Comenius University in Bratislava, Slovakia · 2017. 6. 30. · Research at the Faculty of Medicine...

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FACULTY OF MEDICINE Comenius University in Bratislava, Slovakia MAIN RESEARCH AREAS

Transcript of Comenius University in Bratislava, Slovakia · 2017. 6. 30. · Research at the Faculty of Medicine...

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FACULTY OF MEDICINEComenius University in Bratislava, Slovakia

MAIN RESEARCH AREAS

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FACULTY OF MEDICINEComenius University in Bratislava, Slovakia

MAIN RESEARCH AREAS

As for June 2017

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Research at the Faculty of Medicine of the Comenius University in Bratislava

The Faculty of Medicine, which has been developing since 1919, is the first and founding faculty of the Comenius University in Bratislava. The Faculty of Medicine in Bratislava is the largest and oldest medical faculty in Slovakia.

From the beginning, the Faculty of Medicine was focused on two tightly interconnected activities, education and research. In 1921 there was established a scientific medical journal Bratislava Medical Journal (Bratisl Lek Listy), which has been published so far as the oldest medical journal in Slovakia.

In the last decade, the research at the Faculty of Medicine is focused on four main research areas:• Neuroscience• Cardiovascular diseases• Oncological diseases• Metabolic, endocrine, and inflammatory diseases

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Contents

Neuroscience . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1A. Central nervous system tumors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4B. Neuroanatomy, brain mapping, neuromonitoring . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6C1. Neurodegenerative diseases - dementias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7C2. Neurodegenerative diseases - Parkinson’s disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9D1. Multiple sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11D2. Multiple sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13D3. Multiple sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14E. Cerebrovascular diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15F. Sensory diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17G1. Sleep disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19G2. Sleep disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20H1. Depression in adults . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21H2. Depression in children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22I. Schizophrenia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23J. Autism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24K. Neurobiology of cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26

Cardiovascular Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29A. Hypertension . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 32B. Heart failure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33C. Remodeling in cardiovascular system . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35D. Cardiotoxicity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37E. Inherited heart defects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 38F1. Vascular diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39F2. Vascular diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40G. Pharmacoepidemiology of cardiovascular diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . 42H. Drugs for hypertension therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43

Oncological Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 45A1. Mammary carcinoma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48A2. Mammary carcinoma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 50B. Testicular cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 51C. Tumors of head and neck . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53D. Innovative clinical applications of diagnostic radiopharmaceuticals . . . . . . . . . . . . . . . . . . . 54E. Late toxicity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 55F. Probiotics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 56

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Metabolic, Endocrine, and Inflammatory Diseases. . . . . . . . . . . . . . . . . . . . . . . . . . . 59A1. Diabetes mellitus - diabetic foot . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 62A2. Diabetes mellitus - monogenic disorders of insulin secretion and action . . . . . . . . . . . . . . . . . 64B. Osteoporosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67C. Short stature in children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69D. Disorders of sexual development . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 70E. Metabolic syndrome in children . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72F. Inborn errors of metabolism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 74G. Thyroid gland and ORL . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 76H. Nutrition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77I. Autoimmunity and autoinflammation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79J. Inflammation in cardiovascular diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81K. Rheumatoid arthritis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 82L. Inflammatory bowel diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83M. Legionnaires´disease, Leptospirosis, Tularemia, nosocomial infections . . . . . . . . . . . . . . . . . . 85N. Sepsis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87O1. Microscopic structure, development and evolution of thymus . . . . . . . . . . . . . . . . . . . . . . . 88O2. Microscopic structure and blood microcirculation of spleen . . . . . . . . . . . . . . . . . . . . . . . . 90P. Hereditary ciliopathies, RASopathies and tubulopathies. . . . . . . . . . . . . . . . . . . . . . . . . . . . 92Q. Extracellular DNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 94R. Novel biomarkers in chronic kidney disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 96S. Bioenergetics and anti-oxidative systems . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98

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NEUROSCIENCE

Neuroscience

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Research area Topic Specification

Neurological diseases

Central nervous system tumors

Glioma Optimization of cerebral glioma therapy

Hypophyseal tumors Correlation of expression of cell proliferation markers, immunohistochemical profile, growth features of tumors and patients age with biological features of hormonally active adenoma of hypophysis

Neuroanatomy Brain mapping, neuromonitoring

Per-operative identification of small arterioles reaching deep brain structures

Neurodegenerative diseases

Dementias, Parkinson’s disease, multiple sclerosis

Clinical and therapeutical aspects (role of free radicals and antioxidants)

Multiple sclerosis

Markers of therapeutic outcome

Relation between changes in liquor in patients and clinical and therapeutic outcomes

Genetic polymorphisms Role of polymorphisms and other genetic variations in genes for cytokines and membrane signalization molecules of immune cells in predisposition and progression of multiple sclerosis

Role of inflammation Clinical and therapeutic aspects

Sensory deficits Genetically determined hearing disorders

Genotype of patients with hearing diseases as predictor of success of cochlear implantation

Sleep diseasesCerebral ischemia and sleep disorders

Changes of sleep architecture in patients with focal brain ischemia

Restless legs syndrome Predictors of therapeutic response

Psychiatric diseases

Affective diseasesDepression in adults Neurobiological mechanisms

Depression in children Impact of omega 3 fatty acids on depressive symptoms in children and adolescence

Schizophrenia Psychopathology and pharmacology

Social cognition, psychopharmacology

Neurodevelopmental Autism Etiology of autism, the effect of hormones on cognitive functions

Somatic diseases

Brain and somatic cancer

Neurobiology of cancer Modulatory effect of the brain on development and progression of somatic cancer

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Neuroscience research has a long tradition at the Faculty of Medicine. Whereas in the past research was focused mainly on investigation of axonal transport and morphological features of nerve tissue, recently is represented by investigation of optimal therapy of cerebral gliomas, etiopathogenesis of neurodegenerative diseases, multiple sclerosis, depression and other disease.

Principal investigatorsDr. h. c. Prof. Juraj Šteňo, MD, DSc, IFAANSProf. Peter Valkovič, MD, PhDAssoc. Prof. Mária Bucová, MD, PhDProf. Boris Mravec, MD, PhDProf. Daniela Ostatníková, MD, PhDProf. Ján Pečeňák, MD, PhDAssoc. Prof. Andrej Šteňo, MD, PhD, MPHProf. Milan Profant, MD, PhDProf. Peter Turčáni, MD, PhD

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A. Central nervous system tumors

InvestigatorsDr. h. c. Prof. Juraj Šteňo, MD, DSc, IFAANS ([email protected])Gabriela Timárová, MD, PhDAssoc. Prof. Andrej Šteňo, MD, PhDVladimír Hollý, MDProf. Viktor Matejčík, MD, PhDVíťazoslav Belan, MD, PhDĽubica Pružincová, MDMartin Fabian, MDAnna Peržeľová, MDIvana Siváková, RNDr, PhDIvan Bízik, MD

Grants and Funding (in the last 10 years)• VEGA 1/3430/06: Dynamics of changes of selected metabolic parameters of gliomas and surrounding brain

tissue after different therapeutic modalities (2006-2008)• VEGA 1/3439/06: Immunocytochemical analysis of glia precursor cells in adult brain tissue an in tissue cultures

(2006-2008)• VEGA 1/1166/10: Correlation between expression of cell proliferation markers, immunohistochemical profile,

growth features of tumor and patient age with biological features of hormonally active hypophyseal adenoma (2011-2014)

Plans for future research• Optimization of cerebral glioma therapy based on results of their genotyping, biomarkers determinations, by

more precise investigation of their growth dynamics by employing of serial MRI

Devices and methods• Device for pre- and peri-operative stimulation of brain structures and for neuroimaging• 3D navigated sonograph• fMRI, DTI (MR) tractography (imaging of nervous pathways)• Surgical microscopes (module for 5ALA, module for ICG angiography)• Endoscope

Selected publications• Šteňo J. Craniopharyngiomas. In: M Sindou (ed.): Practical handbook of neurosurgery. From leading neurosurgeons. Wien:

Springer 2009; 235-53.• Šteňo J. Craniopharyngiomas and suprasellar tumors. In: RG Ellenbogen, I Abdulrauf, LN Sekhar (eds.): Principles of

Neurological Surgery. Philadelphia: Elsevier Saunders 2012; 597-620.• Šteňo J, Najjar J, Aboud ET, Elbabaa SK, Knosp E, Aygül M. Approaches to a colloid cyst: Transcranial vs. endoscopic.

Controversies in Neurosurgery 2. New York: Thieme Medical Publishers 2014; 219-37.• Steno J. Microsurgical topography of craniopharyngiomas. Acta Neurochir Suppl (Wien) 1985; 35: 94-100.• Šteňo J, Bízik I, Matejčík V, Šurkala J. Surgical experience with trigeminal neurinomas. Clin Neurosci 1994; 47: 204-6.• Lombardi V, Valko L, Valko M, Scozzafava A, Morris H, Melnik M, Svitel J, Budesinský M, Pelnár J, Steno J, Liptaj T, Zalibera

L, Budinská J, Zlatos J, Giuliani A, Mascolo L, Leibfritz D, Troncone A, Marzullo F, Mazur M, Klener J, Zverina E. 1H NMR ganglioside ceramide resonance region on the differential diagnosis of low and high malignancy of brain gliomas. Cell Mol Neurobiol 1997; 17: 521-35.

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• Steno J, Malácek M, Bízik I. Tumor-third ventricular relationships in supradiaphragmatic craniopharyngiomas: correlation of morphological, magnetic resonance imaging, and operative findings. Neurosurgery 2004; 54: 1051-8.

• Pruzincová L, Steno J, Srbecký M, Kalina P, Rychlý B, Boljesíková E, Chorváth M, Novotný M, Procka V, Makaiová I, Belan V. MR imaging of late radiation therapy- and chemotherapy-induced injury: a pictorial essay. Eur Radiol 2009; 19: 2716-27.

• Steňo J, Bízik I, Steňo A, Matejčík V. Craniopharyngiomas in children: how radical should the surgeon be? Childs Nerv Syst 2011; 27: 41-54.

• Steňo J, Bízik I, Steňo A, Matejčík V. Craniopharyngiomas and the hypothalamus. J Neurosurg 2013; 119: 1646-50.• Chorvath M, Boljesikova E, Pruzincova L, Procka V, Rychly B, Novotny M, Kalina P, Belan V, Makaiova I, Steno J. Post-

therapeutical changes in the brain: novel trends in imaging and their infuence on external beam radiotherapy. Neoplasma 2009; 56: 156-62.

• Steno J, Bízik I, Biksadský P. Pineal region teratomas in children. Ann NY Acad Sci 1997; 824: 241-4.• Šteňo A, Bocko J, Rychlý B, Chorváth M, Celec P, Fabian M, Belan V, Šteňo J. Nonfunctioning pituitary adenomas: association

of Ki-67 and HMGA-1 labeling indices with residual tumor growth. Acta Neurochir (Wien) 2014; 156: 451-61.• Šteňo A, Illéš R, Rychlý B, Fabian M, Šteňo J. Detection of anaplastic foci within infiltrative gliomas with nonsignificant

contrast enhancement using 5-aminolevulic acid- a report of five cases. Cesk Neurol Neurochir 2012; 75: 227-32.• Steno J, Jezová D, Belan V, Tomecková E, Vigas M. Radical and selective removal of hyperfunctional hypophyseal adenomas

using a transsphenoidal approach. Cesk Neurol Neurochir 1991; 54: 107-15.• Fabian M, Jezberová M, Pružincová Ľ, Belan V, Chorváth M, Rzchlý B, Kalina P, Šteňo J, Šteňo A. The Effect of Supratentorial

Grade II GLiomas Growth Rate on their Prognosis. Cesk Neurol Neurochir 2015, 78: 274-81.• Malácek M, Steno J. Does selectivity in radical adenomectomy in invasive hypophyseal adenomas increase the risk of

recurrence? Bratisl Lek Listy 1994;95: 349-53.• Steno J, Bizik I, Krajina A, Matejcik V, Surkala J, Profant M, Krist J. Meningioma of the clivus. Bratisl Lek Listy 2000; 101: 200-5.• Šteňo A, Matejčík V, Šteňo J. Letter to the Editor: Identification of residual glioma using ultrasound miniprobes. Neurosurg

Focus 2016; 41: E15.• Šteňo A, Giussani C, Riva M. Multimodal imaging in glioma surgery. In: Prada F, Solbiati L, Martegani A, DiMeco F (eds):

Intra-operative ultrasound in neurosurgery: from standard B-mode to elastosonography. Vienna: Springer 2016; 81-97.• Šteňo A, Matejčík V, Šteňo J. Intraoperative ultrasound in low-grade glioma surgery. Clin Neurol Neurosurg 2015;135:96-9.• Šteňo J. Skull base involvement in pituitary adenomas. Surgery of the sellar region and paranasal sinuses. In: Samii M (ed.).

Berlin: Springer-Verlag 1991; 302-8.• Šteňo A, Karlík M, Mendel P, Čík M, Šteňo J. Navigated three-dimensional intraoperative ultrasound-guided awake resection

of low-grade glioma partially infiltrating optic radiation. Acta Neurochir (Wien) 2012; 154: 1255-62.• Šteňo A, Šteňová V, Belan V, Hollý V, Šurkala J, Šteňo J.Awake resection of adult supratentorial low-grade gliomas located

within or adjacent to eloquent areas. Cesk Neurol Neurochir 2011; 74: 539-49.

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B. Neuroanatomy, brain mapping, neuromonitoring

InvestigatorsDr. h. c. Prof. Juraj Šteňo, MD, DSc, IFAANS ([email protected])Gabriela Timárová, MD, PhDAssoc. Prof. Andrej Šteňo, MD, PhDVladimír Hollý, MDProf. Viktor Matejčík, MD, PhDVíťazoslav Belan, MD, PhDĽubica Pružincová, MDMartin Fabian, MDAnna Peržeľová, MDIvana Siváková, RNDr, PhDIvan Bízik, MDProf. Peter Valkovič, MD, PhDZuzana Košutzká, MD

Grants and Funding (in the last 10 years)• VEGA 1/0959/16: Correlation of imaging preciosity of lenticulostriatal arteries in patients with infiltrative

glioma of insula by intraoperative 3D-sonography with imaging by pre-operative 3-Tesla MRI (2016-2018)

Plans for future research• Verification of reliability of per-operative identification of small arterioles reaching deep brain structures by MRI

and 3D-navigated sonography

Devices and methods• Device for pre- and peri-operative stimulation of brain structures and for neuroimaging• 3D navigated sonograph• fMRI, DTI (MR) tractography (imaging of nervous pathways)• Surgical microscopes (module for 5ALA, module for ICG angiography)• Endoscope

Selected publications• Steno J. Microsurgical topography of craniopharyngiomas. Acta Neurochir Suppl (Wien) 1985; 35: 94-100.• Steno A, Popp AJ, Wolfsberger S, Belan V, Steno J. Persisting embryonal infundibular recess. J Neurosurg 2009; 110: 359-62.• Steňo J, Bízik I, Steňová J, Timárová G. Subtemporal transtentorial resection of cavernous malformations involving the

pyramidal tract in the upper pons and mesencephalon. Acta Neurochir (Wien) 2011; 153: 1955-62.• Siváková I, Peržeľová A, Mráz P, Bízik I, Šteňo J. GFAP-positive astrocytes are rare or absent in primary adult human brain

tissue cultures. Biologia 2009; 64: 833-9.• Steňo A, Hollý V, Fabian M, Kuniak M, Timárová G, Steňo J. Direct electrical stimulation of the optic radiation in patients with

covered eyes. Neurosurg Rev 2014; 37: 527-33.• Šteňo A, Jezberová M, Hollý V, Timárová G, Šteňo J. Visualization of lenticulostriate arteries during insular low-grade glioma

surgeries by navigated 3D ultrasound power Doppler: technical note. J Neurosurg 2016; 125: 1016-23.• Steno J. Compression of structures in the visual pathway by arteries of the circle of Willis in suprasellar tumors. Cesk Neurol

Neurochir 1989; 52: 143-7.

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C1. Neurodegenerative diseases - dementias

InvestigatorsProf. Peter Turčáni, MD, PhD ([email protected])Prof. Branislav Kollár, MD, PhDPavel Šiarnik, MD, PhDKatarína Klobučníková, MD, PhDAssoc. Prof. Jaroslav Pancák, MD, PhDAssoc. Prof. Stanislav Šutovský, MD, PhDMarián Kondáš, MD, PhDMária Králová, MD, PhDAssoc. Prof. Ján Chandoga, MD, PhDRobert Petrovič, RNDr, PhDMonika Siváková, MDJozef Szabo, MDAssoc. Prof. Mária Bucová, MD, PhDProf. Milan Buc, MD, DScAssoc. Prof. Ivana Shawkatova, RNDr, PhDJuraj Javor, MD, PhD

Grants and Funding (in the last 10 years)• MZ-SR 2005/8-UK-011: Epidemiological and genetic aspects of Alzheimer‘s disease in Slovakia (2006-2008)• APVV- 0048-11: Cognitive-communication alterations in patients with moderate cognitive impairment and

dementia (2012-2015)• APPV-15-0253: Molecular mediators of effects of physical activity and carnosine in patients with preclinical and

early stages of neurodegenerative diseases (2016-2020)• VEGA 1/0240/16: Immunogenetic markers in Slovak patients with Alzheimer‘s disease (2016-2018) Plans for future research• Algorithms for early detection of MCI and Alzheimer’s disease• Monitoring of changes in volume of brain structure• Cerebral energetic metabolism in neurodegenerative diseases• Define effects of aerobe-powerful training and/or carnosine at the level of body and muscle-specific metabolism

(in vivo 31P-MRS), physical fitness as well as regulation of GABA/glutamatergic system in the brain (in vivo 1H-MRS) in relationship with intervention in patients with subjective or mild cognitive deficit and in early stages of Alzheimer’s or Parkinson’s disease

• Analysis of miRNA expression in serum, skeletal muscle, and cerebrospinal fluid in relationship with circulating levels of neurotrophins (BDNF), advanced product of glycation (AGEs) as well as with cognitive, motor, and metabolic functions in patients with neurodegenerative diseases

• Differential diagnosis of different types of dementias

Devices and methods• Computer-assisted evaluation of cognitive functions• MR spectroscopy• MR volumetry• In vivo imaging of amyloid and tau protein• Expression of miRNA in serum, muscle, and liquor• Determination of levels of neurotrophins and advanced product of glycation in serum and liquor

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Selected publications• Ďurmanová V, Shawkatová I, Javor J, Párnická Z, Čopíková-Cundráková D, Turčáni P, Lisá I, Gajdošechová B, Buc M, Bucová

M. VLA4 Gene Polymorphism and Susceptibility to Multiple Sclerosis in Slovaks. Folia Biol (Praha) 2015; 61: 8-13.• Keményová P, Siarnik P, Sutovský S, Blaho A, Turcáni P, Kollár B. Impairment of endothelial function in patients with multiple

sclerosis. Neuro Endocrinol Lett 2015; 36: 67-71.• Kemenyova P, Turcani P, Sutovsky S, Waczulikova I. Optical coherence tomography and its use in optical neuritis and multiple

sclerosis. Bratisl Lek Listy 2014; 115: 723-9.• Kuračka L, Kalnovičová T, Kucharská J, Turčáni P. Multiple sclerosis: evaluation of purine nucleotide metabolism in central

nervous system in association with serum levels of selected fat-soluble antioxidants. Mult Scler Int 2014; 2014:759808.• Krizova L, Kollar B, Jezova D, Turcani P. Genetic aspects of vitamin D receptor and metabolism in relation to the risk of

multiple sclerosis. Gen Physiol Biophys 2013; 32: 459-66.• Fazekas F, Bajenaru O, Berger T, Fabjan TH, Ledinek AH, Jakab G, Komoly S, Kobys T, Kraus J, Kurča E, Kyriakides T, Lisý

L, Milanov I, Nehrych T, Moskovko S, Panayiotou P, Jazbec SŠ, Sokolova L, Taláb R, Traykov L, Turčáni P, Vass K, Vella N, Voloshyná N, Havrdová E. How does fingolimod (gilenya(®)) fit in the treatment algorithm for highly active relapsing-remitting multiple sclerosis? Front Neurol 2013; 4:10.

• Preiningerova JL, Baumhackl U, Csepany T, Czaplinski A, Deisenhammer F, Derfuss T, Fabjan TH, Fazekas F, Fuchs S, Havrdova E, Ledinek AH, Illes Z, Jazbec SS, Klimova E, Komoly S, Kurca E, Linnebank M, Lisy L, Mares J, Prochazkova L, Csilla R, Szilasiova J, Stourac P, Talab R, Turcani P, Vachova M, Vecsei L, Vodusek D, Zapletalova O, Berger T. Recommendations for the use of prolonged-release fampridine in patients with multiple sclerosis (MS). CNS Neurosci Ther 2013; 19: 302-6.

• Čarnická Z, Kollár B, Šiarnik P, Krížová L, Klobučníková K, Turčáni P. Sleep disorders in patients with multiple sclerosis. J Clin Sleep Med 2015; 11: 553-7.

• Marková J, Horváthová Ľ, Králová M, Cséfalvay Z. Sentence comprehension in Slovak-speaking patients with Alzheimer‘s disease. Int J Lang Commun Disord 2016.

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C2. Neurodegenerative diseases - Parkinson’s disease

InvestigatorsProf. Peter Valkovič, MD, PhD ([email protected])Prof. Ján Benetin, MD, PhDMichal Minár, MD, PhDKarin Gmitterová, MD, PhDZuzana Košutzká, MDJana Martinková, MDDarina Petrleničová, MD, PhDIgor Straka, MDAlice Kušnírová, MDProf. Boris Mravec, MD, PhDAssoc. Prof. Ivan Varga, RNDr, PhDAndrea Gažová, PharmDr, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0286/08: Effect of sensory interaction and cognitive load on postural instability in patients with

Parkinson‘s disease (2008-2010)• MZSR 2007/67/FNsPBA-05: Effect of cognitive dysfunction on postural instability (2008-2010)• VEGA 1/0070/11: Perforation tests of posture in functional diagnostic of sportsmen and individuals with altered

motor functions (2011-2013)• VEGA 2/0138/13: Kinematic analysis of posture and walk in healthy individuals and patients with alteration of

balance (2013-2015)• Novartis Slovakia: Adherence to pharmacotherapy in Parkinson‘s disease (2014-2015)• VEGA 1/0373/14: Functional tests in diagnosis of postural instability and strength of thoracic muscles (2014-

2016)

Plans for future research• Detection of new clinical and tissue biomarkers (pre-clinical diagnosis and therapeutical responses)• Alteration of balance, quality of life, improvement of pharmacotherapy, improvement of criteria and results of

surgical treatment

Devices and methods• Computer-assisted psychometric• Complex diagnosis of balance• Imaging methods• Complex liquor diagnostic• Histological and immunohistochemical diagnosis

Selected publications• Valkovič P, Brožová H, Bötzel K, Růžička E, Benetin J. Push and Release Test predicts better Parkinson fallers and nonfallers

than the Pull Test: comparison in OFF and ON medication states. Mov Disord 2008; 23: 1453-57.• Levin J, Krafczyk S, Valkovič P, Eggert T, Claassen J, Bötzel K. Objective measurement of muscle rigidity in parkinsonian

patients treated with subthalamic stimulation. Mov Disord 2009; 24: 57-63.• Valkovič P, Abrahámová D, Hlavačka F, Benetin J. Static posturography and infraclinical postural instability in early-stage

Parkinson´s disease. Mov Disord 2009; 24: 57-63.

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• Gmitterová K, Heinemann U, Gawinecka J, Varges D, Ciesielczyk B, Valkovič P, Benetin J, Zerr I. 8-OHdG in Cerebrospinal Fluid as a Marker of Oxidative Stress in Various Neurodegenerative Diseases. Neurodegenerative Dis 2009; 6: 263-9.

• Martinková J, Valkovič P, Benetin J. Paraneoplastic chorea associated with breast cancer. Mov Disord 2009; 24 :2296-7.• Martinková J, Trejbalová L, Sásiková M, Benetin J, Valkovič P. Impulse control disorders associated with dopaminergic

medication in patients with pituitary adenomas. Clin Neuropharmacol 2011; 34: 179-81.• Valkovič P, Haršány J, Hanáková M, Martinková J, Benetin J. Nonmotor symptoms in early- and advanced-stage Parkinson´s

disease patients on dopaminergic therapy: how do they correlate with quality of life? ISRN Neurology 2014; ID 587302: 4p.• Minár M, Valkovič P. Thyroid-Induced Worsening of Parkinsonian Tremor Resistant to Drugs and Subthalamic Nucleus Deep

Brain Stimulation. Case Rep Neurol Med 2014; 2014: 489275.• Brecl Jakob G, Pelykh O, Košutzká Z, Pirtošek Z, Trošt M, Ilmberger J, Valkovic P, Mehrkens JH, Bötzel K. Postural stability

under globus pallidus internus stimulation for dystonia. Clin Neurophysiol 2015; 126: 2299-305.• Škorvánek M, Rosenberger J, Minár M, Grofik M, Haň V, Groothoff JW, Valkovič P, Gdovinová Z, van Dijk JP. Relationship

between the non-motor items of the MDS-UPDRS and Quality of Life in patients with Parkinson‘s disease. J Neurol Sci 2015; 353: 87-91.

• Škorvánek M, Minár M, Grofik M, Kračunová K, Haň V, Cibulčík F, Necpál J, Gurčík L, Valkovič P. Validation of the official Slovak version of the Unified Dyskinesia Rating Scale (UDysRS). Parkinsons Dis 2015; 2015: 674796.

• Valkovic P, Minar M, Singliarova H, Harsany J, Hanakova M, Martinkova J, Benetin J. Pain in Parkinson´s disease: A cross-sectional study of its prevalence, types, and relationship to depression and quality of life. PLoS One 2015; 10: e0136541.

• Moro E, Schüpbach M, Wächter T, Allert N, Eleopra R, Honey C, Rueda M, Schiess M, Shimo Y, Valkovic P, Whone A, Stoevelaar H. Referring Parkinson’s disease patients for deep brain stimulation: results a RAND/UCLA appropriateness study. J Neurol 2016; 263: 112-9.

• Gmitterová K, Minár M, Smutný M, Valkovič P. Continuous intrajejunal levodopa-carbidopa intestinal gel in the treatment of patients with advanced Parkinson’s disease – effects on motor symptoms. Act Nerv Super Rediviva 2015; 57: 57–62.

• Cibulcik F, Benetin J, Kurca E, Grofik M, Dvorak M, Richter D, Donath V, Kothaj J, Minar M, Valkovic P. Effects of rasagiline on freezing of gait in Parkinson‘s disease - an open-label, multicenter study. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016; 160: 549-52.

• Mravec B, Lejavova K, Vargovic P, Ondicova K, Horvathova L, Novak P, Manz G, Filipcik P, Novak M, Kvetnansky R. Tauopathy in transgenic (SHR72) rats impairs function of central noradrenergic system and promotes neuroinflammation. J Neuroinflammation 2016; 13: 15.

• Mravec B, Lejavova K, Cubinkova V. Locus (coeruleus) minoris resistentiae in pathogenesis of Alzheimer‘s disease. Curr Alzheimer Res 2014; 11: 992-1001.

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D1. Multiple sclerosis

InvestigatorsProf. Peter Turčáni, MD, PhD ([email protected])Prof. Branislav Kollár, MD, PhDMonika Siváková, MDPavel Šiarnik, MD, PhDKatarína Klobučníková, MD, PhDAssoc. Prof. Mária Bucová, MD, PhDProf. Milan Buc, MD, DScAssoc. Prof. Ďurmanová Vladimíra, RNDr, PhDJuraj Javor, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0810/12: Immunogenetic determination of response to biological therapy in patients with multiple

sclerosis (2013-2016)• APVV-0028-10: Interaction of psychological, cardiovascular, neuroendocrine, and metabolic factors: from new

animal models to clinical applications (2011-2014)

Plans for future research• Determination of the role of mitochomdrial dysfunction on development of neurodegeneration• Determination of presence of specific miRNA in liquor and plasma in multiple sclerosis• Monitoring of changes of brain structures volume• Genetic determination of sclerosis multiplex, the role of cytokines, chemokines, new inflammatory markers

HMGB1 and TREM, miRNA and vitamin D in disease severity monitoring

Devices and methods• Completely equipped laboratory for processing of biological material (serum, liquor, saliva)• EndoPAT 2000 (Itamar-Medical), device for determination of endothelial function• Finometer (Finapres Medical Systems), device for determination of baroreflex sensitivity• PCR -SSP, PCR-RFLP, sequencing - methods for immunogenetic determination• ELISA - method for estimation of the level of cytokines and chemokines

Selected publications• Ďurmanová V, Shawkatová I, Javor J, Párnická Z, Čopíková-Cundráková D, Turčáni P, Lisá I, Gajdošechová B, Buc M, Bucová

M. VLA4 Gene Polymorphism and Susceptibility to Multiple Sclerosis in Slovaks. Folia Biol (Praha) 2015; 61: 8-13.• Keményová P, Siarnik P, Sutovský S, Blaho A, Turcáni P, Kollár B. Impairment of endothelial function in patients with multiple

sclerosis. Neuro Endocrinol Lett 2015; 36: 67-71.• Kemenyova P, Turcani P, Sutovsky S, Waczulikova I. Optical coherence tomography and its use in optical neuritis and multiple

sclerosis. Bratisl Lek Listy 2014; 115: 723-9.• Kuračka L, Kalnovičová T, Kucharská J, Turčáni P. Multiple sclerosis: evaluation of purine nucleotide metabolism in central

nervous system in association with serum levels of selected fat-soluble antioxidants. Mult Scler Int 2014; 2014:759808.• Krizova L, Kollar B, Jezova D, Turcani P. Genetic aspects of vitamin D receptor and metabolism in relation to the risk of

multiple sclerosis. Gen Physiol Biophys 2013; 32: 459-66.• Fazekas F, Bajenaru O, Berger T, Fabjan TH, Ledinek AH, Jakab G, Komoly S, Kobys T, Kraus J, Kurča E, Kyriakides T, Lisý

L, Milanov I, Nehrych T, Moskovko S, Panayiotou P, Jazbec SŠ, Sokolova L, Taláb R, Traykov L, Turčáni P, Vass K, Vella N, Voloshyná N, Havrdová E. How does fingolimod (gilenya(®)) fit in the treatment algorithm for highly active relapsing-remitting multiple sclerosis? Front Neurol 2013; 4:10.

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• Preiningerova JL, Baumhackl U, Csepany T, Czaplinski A, Deisenhammer F, Derfuss T, Fabjan TH, Fazekas F, Fuchs S, Havrdova E, Ledinek AH, Illes Z, Jazbec SS, Klimova E, Komoly S, Kurca E, Linnebank M, Lisy L, Mares J, Prochazkova L, Csilla R, Szilasiova J, Stourac P, Talab R, Turcani P, Vachova M, Vecsei L, Vodusek D, Zapletalova O, Berger T. Recommendations for the use of prolonged-release fampridine in patients with multiple sclerosis (MS). CNS Neurosci Ther 2013; 19: 302-6.

• Čarnická Z, Kollár B, Šiarnik P, Krížová L, Klobučníková K, Turčáni P. Sleep disorders in patients with multiple sclerosis. J Clin Sleep Med 2015; 11: 553-7.

• Shawkatová I, Javor J, Párnická Z, Bucová M, Čopíková-Cudráková D, Michalík J, Gmitterová K, Čierny D, Buc M, Ďurmanová V. Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients. Folia Microbiol (Praha) 2017.

• Čierny D, Michalik J, Škereňová M, Kantorová E, Sivák Š, Javor J, Kurča E, Dobrota D, Lehotský J. ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks. Neurol Res 2016; 38: 678-84.

• Javor J, Párnická Z, Michalik J, Čopíková-Cudráková D, Shawkatová I, Ďurmanová V, Gmitterová K, Klímová E, Bucová M, Buc M. The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gene is associated with susceptibility to multiple sclerosis in HLA-DRB1*15:01-negative individuals. J Neurol Sci 2015; 349: 138-42.

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D2. Multiple sclerosis

InvestigatorsProf. Peter Valkovič, MD, PhD ([email protected])Darina Petrleničová, MD, PhDIgor Straka, MDKarin Gmitterová, MD, PhD

Plans for future research• Determine predictors of therapeutic response and quality of life• Measurement of balance instability as a marker of Parkinson’s disease

Devices and methods• Complex psychodiagnostic tools• Complex analysis of liquor• Determination of balance alterations

Selected publications• Valkovič P, Krastev G, Mako M, Leitner P, Gasser T. A unique case of coincidence of early onset Parkinson´s disease and

multiple sclerosis. Mov Disord 2007; 22: 2278-81.• Bartova R, Petrlenicova D, Oresanska K, Prochazkova L, Liska B, Turecky L, Durfinova M. Changes in levels of oxidative stress

markers and some neuronal enzyme activities in cerebrospinal fluid of multiple sclerosis patients. Neuro Endocrinol Lett 2016; 37: 102-6.

• Durfinova M, Bartova R, Prochazkova L, Balco M, Liska B, Gavurnikova G. Role of astrocytes in pathogenesis of multiple sclerosis and their participation in regulation of cerebral circulation. Neuro Endocrinol Lett 2014; 35: 666-72.

• Karlík M, Valkovič P, Hančinová V, Krížová L, Tóthová Ľ, Celec P. Markers of oxidative stress in plasma and saliva in patients with multiple sclerosis. Clinical Biochemistry 2015; 48: 24-8.

• Minár M, Petrleničová D, Valkovič P. Restless legs syndrome in multiple sclerosis decreases health-related quality of life. Act Nerv Super Rediviva 2016; 58: 19–21.

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D3. Multiple sclerosis

InvestigatorsAssoc. Prof. Mária Bucová, MD, PhD ([email protected])Juraj Javor, MD, PhDAssoc. Prof. Vladimíra Ďurmanová, RNDr, PhDAssoc. Prof. Ivana Shawkatová, MSc, PhDBeáta Gajdošechová, RNDrZuzana Párnická, MD, PhDMagda Suchánková, MD, PhDProf. Milan Buc, MD, DSc

Plans for future research• Immunogenetic determination of inflammation in multiple sclerosis• Polymorphism of cytokines, chemokines, adhesive molecules, transcription factors, receptors• New inflammatory markers, cytokines, hormones, miRNA, oxidative status• Association with clinical stage of patients, EDSS, results of MRI, biologic therapy• Currently, more than 400 samples are stored, biobanking samples and clinical data

Devices and methods• PCR cyclers, centrifuges• DNA/RNA spectrophotometer, transilluminator• ELFO, photo-recording system• ELISA, flow cytometer

Selected publications• Buc M. Role of regulatory T cells in pathogenesis and biological therapy of multiple sclerosis. Mediators Inflamm 2013; 2013:

963748.• Javor J, Párnická Z, Michalik J, Čopíková-Cudráková D, Shawkatová I, Ďurmanová V, Gmitterová K, Klímová E, Bucová M, Buc

M. The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gene is associated with susceptibility to multiple sclerosis in HLA-DRB1*15:01-negative individuals. J Neurol Sci 2015; 349: 138-42.

• Ďurmanová V, Shawkatová I, Javor J, Párnická Z, Čopíková-Cundráková D, Turčáni P, Lisá I, Gajdošechová B, Buc M, Bucová M. VLA4 Gene Polymorphism and Susceptibility to Multiple Sclerosis in Slovaks. Folia Biol (Praha) 2015; 61: 8-13.

• Shawkatová I, Javor J, Párnická Z, Bucová M, Čopíková-Cudráková D, Michalík J, Gmitterová K, Čierny D, Buc M, Ďurmanová V. Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients. Folia Microbiol (Praha) 2017.

• Čierny D, Michalik J, Škereňová M, Kantorová E, Sivák Š, Javor J, Kurča E, Dobrota D, Lehotský J. ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks. Neurol Res 2016; 38: 678-84.

• Javor J, Párnická Z, Michalik J, Čopíková-Cudráková D, Shawkatová I, Ďurmanová V, Gmitterová K, Klímová E, Bucová M, Buc M. The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gene is associated with susceptibility to multiple sclerosis in HLA-DRB1*15:01-negative individuals. J Neurol Sci 2015; 349: 138-42.

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E. Cerebrovascular diseases

InvestigatorsProf. Peter Turčáni, MD, PhD ([email protected])Prof. Branislav Kollár, MD, PhDPavel Šiarnik, MD, PhDAssoc. Prof. Marek Sýkora, MD, PhDKatarína Klobučníková, MD, PhDAssoc. Prof. Jaroslav Pancák, MD, PhDAssoc. Prof. Stanislav Šutovský, MD, PhDJozef Szabo, MDZoltán Goldenberg, MD, PhDVladimír Javorka, MD, PhDMagdaléna Mižičková, MDAssoc. Prof. Ingrid Žitňanová, MEng, PhDProf. Stanislav Oravec, MD, PhDProf. Igor Farkaš, MEng, PhDBarbora Cimrová, RNDr, PhD

Grants and Funding (in the last 10 years)• European Regional Development Fund Research and Development Grant (ITMS 26240120015): Establishment

of centre of excellence for stroke at Faculty of Medicine in Bratislava (2009-2011)• European Regional Development Fund Research and Development Grant (ITMS:26240120023): Completion of

centre of excellence for stroke at Faculty of Medicine in Bratislava (2012-2014)• MZ-SR 2012/10-UKBA-10: Oxidative stress and its role in pathogenesis of stroke (2012-2016)• VEGA 1/3423/064: Pathophysiological mechanisms of cardiovaskular alterations in stroke (2006-2008)• APVV-0668-12: Interface brain-computer with adaptive robotic arm for rehabilitation (2012-2016)• MZ-SR 2012/56-SAV-6: Changes of sleep architecture in patients with focal brain ischemia and its influence on

cognitive functions (2012-2016)• APVV-0028-10: Interaction between psychiatric, cardiovascular, neuroendocrin, and metabolic factors: from

new animal models to clinical applications (2011-2014)

Plans for future research• Complex investigation of stroke etiopathogenesis• New view on the spectrum of risk factors• Evaluation of drugs effect on brain perfusion• Establishment of new therapeutic approaches in Slovakia• Experimental research of mechanisms participating on stroke development and stroke-induced changes in

organism

Devices and methods• Standard equipment of centre focused on stroke therapy• Complexly equipped laboratory for processing of biological materials (serum, liquor, saliva)• Device for USG determination of brain circulation with possibility to detect embolus• Angiograph• EndoPAT 2000 (Itamar-Medical), device for determination of endothelial functions• Finometer (Finapres Medical Systems), device for determination of baroreflex sensitivity

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• Polysomnograph Alice 5 and Alice 6 (Philips-Respironics)• C-Flow (Ornim), determination of non-invasive determination of cerebral blood flow• Agregometer and viscosimeter (Chronolog, A. Paar)

Selected publications• Szárazová AS, Bartels E, Bartels S, Turčáni P. Possible morphological pathomechanisms of ischemic stroke in the posterior

circulation of patients with vertebral artery hypoplasia. J Neuroimaging 2015; 25: 408-14.• Lenti L, Brainin M, Titianova E, Morovic S, Demarin V, Kalvach P, Skoloudik D, Kobayashi A, Czlonkowska A, Muresanu

DF, Shekhovtsova K, Skvortsova VI, Sternic N, Beslac Bumbasirevic L, Svigelj V, Turcani P, Bereczki D, Csiba L. Stroke carein Central Eastern Europe: current problems and call for action. Int J Stroke 2013; 8: 365-71.

• Sykora M, Steiner T, Rocco A, Turcani P, Hacke W, Diedler J. Baroreflex sensitivity to predict malignant middle cerebral artery infarction. Stroke 2012; 43: 714-9.

• Sykora M, Steiner T, Poli S, Rocco A, Turcani P, Diedler J. Autonomic effectsof intraventricular extension in intracerebral hemorrhage. Neurocrit Care 2012; 16: 102-8.

• Sykora M, Diedler J, Poli S, Rizos T, Kellert L, Turcani P, Steiner T. Association of non-diabetic hyperglycemia with autonomic shift in acute ischaemic stroke. Eur J Neurol 2012; 19: 84-90.

• Sykora M, Diedler J, Poli S, Rizos T, Turcani P, Veltkamp R, Steiner T. Autonomic shift and increased susceptibility to infections after acute intracerebral hemorrhage. Stroke 2011; 42: 1218-23.

• Sykora M, Diedler J, Poli S, Rupp A, Turcani P, Steiner T. Blood pressure course in acute stroke relates to baroreflex dysfunction. Cerebrovasc Dis 2010; 30: 172-9.

• Martiniskova Z, Kucera P, Sykora M, Kollar B, Goldenberg Z, Turcani P. Baroreflex sensitivity in patients with type I diabetes mellitus. Neuro Endocrinol Lett 2009; 30: 491-5.

• Sykora M, Diedler J, Turcani P, Hacke W, Steiner T. Baroreflex: a new therapeutic target in human stroke? Stroke 2009; 40: e678-82.

• Sykora M, Diedler J, Turcani P, Rupp A, Steiner T. Subacute perihematomal edema in intracerebral hemorrhage is associated with impaired blood pressure regulation. J Neurol Sci 2009; 284: 108-12.

• Sykora M, Diedler J, Rupp A, Turcani P, Steiner T. Impaired baroreceptor reflex sensitivity in acute stroke is associated with insular involvement, but not with carotid atherosclerosis. Stroke 2009; 40: 737-42.

• Sykora M, Diedler J, Rupp A, Turcani P, Rocco A, Steiner T. Impaired baroreflex sensitivity predicts outcome of acute intracerebral hemorrhage. Crit Care Med 2008; 36: 3074-9.

• Šiarnik P, Kollár B, Čarnická Z, Šurda P, Klobučníková K, Sýkora M, Turčáni P. Association of sleep disordered breathing with wake-up acute ischemic stroke: a full polysomnographic study. J Clin Sleep Med 2016; 12: 549-54.

• Klobučníková K, Šiarnik P, Čarnická Z, Kollár B, Turčáni P. Causes of excessive daytime sleepiness in patients with acute stroke-A polysomnographic study. J Stroke Cerebrovasc Dis 2016; 25: 83-6.

• Šiarnik P, Kollár B, Čarnická Z, Šutovský S, Klobučníková K, Turčáni P. Characteristics of sleep-disordered breathing in etiologic subtypes of minor-to-moderate acute ischemic stroke. J Stroke Cerebrovasc Dis 2015, 24: 1087-93.

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F. Sensory diseases

InvestigatorsProf. Milan Profant, MD, PhD ([email protected])Assoc. Prof. Zuzana Kabátová, MD, PhDLukáš Varga, MD, RNDr, PhDGabriela Pavlovčinová, MD, PhDLívia Majerníková, MD

Grants and Funding (in the last 10 years)• APVV-15-0067: Identification of new gene variants of hereditary hearing disorders on the base of national

screening (2016-2020)• VEGA 1/0214/16: Wide-exome sequencing in multiplex families with hereditary hearing disorders in Slovakia

(2016-2019)• VEGA 2/0180/15: The study of molecular mechanisms exercise- and cold-induced metabolic activation of

brown/pink fat in humans in relationship with obesity and diabetes type 2 (2015-2017)• APVV-0148-10: Screening of hereditary hearing disorders in Slovakia by methods of DNA analysis (2011-2014)• ASFEU- structural founds of EU (ITMS: 26240220051): TRANSENDOGEN (Transfer of genetic knowledge of

endocrine research into clinical praxis (2010-2014)• VEGA 1/0465/11: Incidence, DNA analysis, and phenotype spectrum of most frequent hereditary hearing

disorders in Slovakia (2011-2013)• VEGA 1/4315/07: Diagnostic and rehabilitation of altered swallowing (2007-2009)

Plans for future research• Experimental audiology and audiologic diagnostic of hearing disorders• Differential diagnosis of dizziness

Devices and methods• Audiologic outpatients‘ department• Otoneurologic and surgery section of Department of ORL

Selected publications• Jovankovičová A, Staník R, Kunzo S, Majáková L, Profant M. Surgery or implantable hearing devices in children with

congenital aural atresia: 25 years of our experience. Int J Pediatr Otorhinolaryngol 2015; 79: 975-9.• Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka

S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D. MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin. PLoS One 2015; 10: e0124232.

• Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Hum Genet 2015; 134: 423-37.

• Suchankova M, Paulovicova E, Paulovicova L, Majer I, Tedlova E, Novosadova H, Tibenska E, Tedla M, Bucova M. Increased antifungal antibodies in bronchoalveolar lavage fluid and serum in pulmonary sarcoidosis. Scand J Immunol 2015; 81: 259-64.

• Beltrame AM, Todt I, Sprinzl G, Profant M, Schwab B. Consensus statement on round window vibroplasty. Ann Otol Rhinol Laryngol 2014; 123: 734-40.

• Varga L, Kabátová Z, Mašindová I, Nechojdomová D, Gašperíková D, Klimeš I,Profant M. Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation? Acta Otolaryngol 2014; 134: 571-8.

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• McKinnon BJ, Dumon T, Hagen R, Lesinskas E, Mlynski R, Profant M, Spindel J, Van Beek-King J, Zernotti M. Vibrant soundbridge in aural atresia: does severity matter? Eur Arch Otorhinolaryngol 2014; 271: 1917-21.

• Varga L, Mašindová I, Hučková M, Kabátová Z, Gašperíková D, Klimeš I, Profant M. Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. Eur Arch Otorhinolaryngol 2014; 271: 1401-7.

• Masindova I, Varga L, Stanik J, Valentinova L, Profant M, Klimes I, Gasperikova D. Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies. Endocr Regul 2012; 46: 167-86.

• Profant M, Sláviková K, Kabátová Z, Slezák P, Waczulíková I. Predictive validity of MRI in detecting and following cholesteatoma. Eur Arch Otorhinolaryngol 2012; 269: 757-65.

• Mohammed el R, Profant M. Spontaneous otogenic pneumocephalus. Acta Otolaryngol 2011; 131: 670-4.• Kabátová Z, Profant M et al. Audiology. Grada: Praha 2012; 360 pp.• Profant M Kabátová Z, Varga L. Otosclerosis and Cochlear Implantation. In: Sziklai I. (Ed.): Surgery of Stapes Fixation,

Springer, Cham, Heidelberg, New York, Dordrecht, London 2016; 105-12.• Cremers CW, O‘Connor AF, Helms J, Roberson J, Clarós P, Frenzel H, Profant M, Schmerber S, Streitberger C, Baumgartner

WD, Orfila D, Pringle M, Cenjor C, Giarbini N, Jiang D, Snik AF. International consensus on Vibrant Soundbridge® implantation in children and adolescents. Int J Pediatr Otorhinolaryngol 2010; 74: 1267-9.

• Kabatova Z, Profant M, Simkova L, Groma M, Nechojdomova D. Cochlear implantation in malformed inner ear. Bratisl Lek Listy 2009; 110: 609-13.

• Jakubíková J, Kabátová Z, Pavlovcinová G, Profant M. Newborn hearing screening and strategy for early detection of hearing loss in infants. Int J Pediatr Otorhinolaryngol 2009; 73: 607-12.

• Coninx F, Weichbold V, Tsiakpini L, Autrique E, Bescond G, Tamas L, Compernol A, Georgescu M, Koroleva I, Le Maner-Idrissi G, Liang W, Madell J, Mikić B, Obrycka A, Pankowska A, Pascu A, Popescu R, Radulescu L, Rauhamäki T, Rouev P, Kabatova Z, Spitzer J, Thodi Ch, Varzic F, Vischer M, Wang L, Zavala JS, Brachmaier J. Validation of the LittlEARS((R)) Auditory Questionnaire in children with normal hearing. Int J Pediatr Otorhinolaryngol 2009; 73: 1761-8.

• Profant M, Kabátová Z, Simková L. From hearing screening to cochlear implantation: cochlear implants in children under 3 years of age. Acta Otolaryngol 2008; 128: 369-72.

• Jakubíková J, Kabátová Z, Závodná M. Identification of hearing loss in newborns by transient otoacoustic emissions. Int J Pediatr Otorhinolaryngol 2003; 67: 15-8.

• Profant M, Steno J. Petrous apex cholesteatoma. Acta Otolaryngol 2000; 120: 164-7.

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G1. Sleep disorders

InvestigatorsProf. Peter Turčáni, MD, PhD ([email protected])Prof. Branislav Kollár, MD, PhDPavel Šiarnik, MD, PhDKatarína Klobučníková, MD, PhDAlžbeta Cvičelová, RNDr, PhDMonika Siváková, MDProf. Igor Farkaš, MEng, PhDBarbora Cimrová, RNDr, PhD

Grants and Funding (in the last 10 years)• MZ-SR 2012/56-SAV-6: Changes of sleep architecture in patients with focal brain ischemia and its influence on

cognitive functions (2012-2016)• European Regional Development Fund Research and Development Grant (ITMS:26240120023): Completion of

centre of excellence for stroke at Faculty of Medicine in Bratislava (2012-2014)

Plans for future research• Sleep disturbances in patients with extrapyramidal diseases• Effect of sleep disturbances on cognitive functions• Sleep disturbances in patients with intracerebral hemorrhage• Sleep disturbances in professional sportsmen

Devices and methods• Polysomnograph Alice 5 and Alice 6 (Philips-Respironics)• Auto-BiPAP (Philips-Respironics), device for titration of over-pressure ventilation• EndoPAT 2000 (Itamar-Medical), device for determination of endothelial functions• Finometer (Finapres Medical Systems), device for determination of baroreflex sensitivity

Selected publications• Šiarnik P, Kollár B, Čarnická Z, Šurda P, Klobučníková K, Sýkora M, Turčáni P. Association of Sleep Disordered Breathing with

Wake-Up Acute Ischemic Stroke: A Full Polysomnographic Study. J Clin Sleep Med 2016; 12: 549-54.• Klobučníková K, Šiarnik P, Čarnická Z, Kollár B, Turčáni P. Causes of Excessive Daytime Sleepiness in Patients with Acute

Stroke-A Polysomnographic Study. J Stroke Cerebrovasc Dis 2016; 25: 83-6.• Šiarnik P, Kollár B, Čarnická Z, Šutovský S, Klobučníková K, Turčáni P. Characteristics of Sleep-Disordered Breathing in

Etiologic Subtypes of Minor-to-Moderate Acute Ischemic Stroke. J Stroke Cerebrovasc Dis 2015; 24: 1087-93.• Čarnická Z, Kollár B, Šiarnik P, Krížová L, Klobučníková K, Turčáni P. Sleep disorders in patients with multiple sclerosis. J Clin

Sleep Med 2015; 11: 553-7.• Siarnik P, Carnicka Z, Krizova L, Wagnerova H, Sutovsky S, Klobucnikova K, Kollar B, Turcani P, Sykora M. Predictors of

impaired endothelial function in obstructive sleep apnea syndrome. Neuro Endocrinol Lett 2014; 35: 142-8.• Klobucníková K, Carnická Z, Wagnerová H, Siarnik P. Is nocturnal epilepsy cause of disturbed quality of sleep and elevated

daytime sleepiness? Neuro Endocrinol Lett 2014; 35: 405-10.• Klobucníková K, Kollár B, Martinisková Z. Daytime sleepiness and changes of sleep architecture in patients with epilepsy.

Neuro Endocrinol Lett 2009; 30: 599-603.

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G2. Sleep disorders

InvestigatorsProf. Peter Valkovič, MD, PhD ([email protected])Michal Minár, MD, PhDJana Martinková, MDDarina Petrleničová, MD, PhDIgor Straka, MDZuzana Košutzká, MD

Grants and Funding (in the last 10 years)• Grant of Boehringer Ingelheim: Eporis epidemiology of RLS in Slovakia (2011-2013)

Plans for future research• Epidemiology in general population• Secundarities• Predictors of therapeutic response• Quality of life

Devices and methods• Complex psychodiagnostics• Complex analysis of liquor• Neurophysiological diagnosis• Complex neuroimaging• Continual EEG monitoring

Selected publications• Minár M, Valková P, Valkovič P. Prevalence and impact of restless legs syndrome in university students. Mov Disord 2013; 28:

1157-8.• Minár M, Habánová H, Rusňák I, Planck K, Valkovič P. Prevalence and impact of restless legs syndrome in pregnancy.

Neuroendocrinol Lett 2013; 34: 366–71.• Minár M, Košutzká Z, Habánová H, Rusňák I, Planck K, Valkovič P. Restless legs syndrome in pregnancy is connected with

iron metabolism disturbances. Sleep Med 2015; 16: 589–92.• Chrastina M, Martinková J, Minár M, Žilinská Z, Valkovič P, Breza J. Impact of kidney transplantation on restless legs

syndrome. Bratisl Lek List 2015; 116: 404-7.• Minár M, Petrleničová D, Valkovič P. Restless legs syndrome in multiple sclerosis decreases health-related quality of life. Act

Nerv Super Rediviva 2016; 58: 19–21.

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H1. Depression in adults

InvestigatorsProf. JánPečeňák, MD, PhD ([email protected])Ľubomíra Izáková, MD, PhDKatarína Ondičová, MVD, PhDProf. Boris Mravec, MD, PhD

Grants and Funding (in the last 10 years)• VEGA1/0300/15: Identification of modulatory acitivity of nervus vagus in periferal and central anti-

inflammatory activity of antidepressants and antipsychotics (2015-2017)• VEGA 2/0057/15: The clinical significance of the relationship between aldosterone and depression and the

regulatory mechanisms involved (2015-2017)• VEGA 1/0258/10: The study of mechanisms of peripheral anti-inflammatory effects of antidepressants (2010-

2012)

Selected publications• Segeda V, Izakova L, Hlavacova N, Bednarova A, Jezova D. Aldosterone concentrations in saliva reflect the duration and

severity of depressive episode in a sex dependent manner. J Psychiatr Res 2017; 91: 164-8.• Pecenak J, Novotny V. Agomelatine as monotherapy for major depression: an outpatient, open-label study. Neuropsychiatr Dis

Treat 2013; 9: 1595-604.• Motovsky B, Pecenak J. Psychopathological characteristics of bipolar and unipolar depression - potential indicators of

bipolarity. Psychiatr Danub 2013; 25: 34-9.• Mravec B, Ondicova K, Tillinger A, Pecenak J. Subdiaphragmatic vagotomy enhances stress-induced epinephrine release in

rats. Auton Neurosci 2015; 190: 20-5.• Ondicova K, Pecenák J, Mravec B. The role of the vagus nerve in depression. Neuro Endocrinol Lett 2010; 31: 602-8.

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H2. Depression in children

InvestigatorsJana Trebatická, MD, PhD ([email protected])Prof. Zdeňka Ďuračková, MEng, PhDProf. Stanislav Oravec, MD, PhDAssoc. Prof. Igor Škodáček, MD, PhDZuzana Matzová, MD, PhDZuzana Hradečná, PhDrAssoc. Prof. Jana Muchová, RNDr, PhDZuzana Padúchová, RNDr, PhDLucia Laubertová, MEng, PhDZuzana Deáková, MSc, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0703/13: Molecular bases of childhood psychiatric disorders (depression, anxiety states), involvement of

oxidative stress and the use of omega-3 fatty acids in therapy (2013-2015)• APVV-15-0063: Molecular bases of depressive disorders in children and adolescents, effect of omega-3 fatty acids

and oxidative stress (2016-2020)

Plans for future research• Determination of metabolites of neurotransmitters in the blood (HPLC)• Determination of fatty acids composition in erythrocyte membranes (GC)• Determination of korticoids in saliva (Elisa)• Determination of membrane fluidity (fluorospectrometric method)• Determination of telomere length (molecular biology)• Determination of oxidative damage to DNA by Comet assay and kinetic of DNA reparation – Comet assay in

ADHD children

Devices and methods• Determination of oxidative damage to DNA by Comet assay and kinetic of DNA reparation – Comet assay• Spectrophotometric, fluorospectrometric methods, Elisa methods, HPLC and GC methods

Selected publications• Trebatická J, Ďuračková Z. Psychiatric disorders and polyphenols: Can they be helpful in therapy? Oxid Med Cell Longev 2015;

2015: 248529.• Vaváková M, Ďuračková Z, Trebatická J. Markers of oxidative stress and neuroprogression in depression Disorder. Oxid Med

Cell Longev 2015; 2015: 898393.• Trebatická J, Dukát A, Ďuračková Z, Muchová J. Cardiovascular diseases, depression disorders and potential effects of omega-3

fatty acids. Physiol Res 2017.• Trebatická J, Hradečná Z, Böhmer F, Vaváková M, Waczulíková I, Garaiova I, Luha J, Škodáček I, Šuba J, Ďuračková Z.

Emulsified omega-3 fatty-acids modulate the symptoms of depressive disorder in children and adolescents – a pilot study. Child and adolescent psychiatry and mental health 2017.

• Viktorínová A, Ursínyová M, Trebatická J, Uhnáková I, Ďuračková Z, Masanová V. Were plasma trace element levels changed in the children with ADHD? Biol Trace Elem Res 2015; 168: 518-9.

• Viktorínová A, Ursínyová M, Trebatická J, Uhnáková I, Ďuračková Z, Masanová V. Changed plasma levels of zinc and copper to zinc ratio and their possible associations with parent- and teacher-rated symptoms in children with attention-deficit hyperactivity disorder. Biol Trace Elem Res 2016; 169: 1-7.

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I. Schizophrenia

InvestigatorsProf. Ján Pečeňák, MD, PhD ([email protected])Michal Hajdúk PhDr, PhD

Grants and Funding (in the last 10 years)• APVV-15-0037: Investigation of anatomical-functional differences between the effects of aripiprazole

and quetiapine, atypical antipsychotics with similar therapeutic indications, but different impact on brain dopaminergic receptors, in experimental animals (2016-2018)

• Slovak Psychiatric Association Grant 2016: Perception and identification of face expression and their relationship to the functioning of patients with schizophrenia (2016)

Selected publications• Pecenák J, Kopeliovic B, Turcek M. Preference for normal, reversed or chimeric self-faces with neutral emotional expression in

patients with schizophrenia and control subjects. Neuro Endocrinol Lett 2014; 35: 497-502.• Mohr P, Rodriguez M, Bravermanová A, Melicher T, Čeplová Z, Čermák J, Pečeňák J. Social and functional capacity of

schizophrenia patients: A cross-sectional study. Int J Soc Psychiatry 2014; 60: 352-8.• Peuskens J, Porsdal V, Pecenak J, Handest P, D‘yachkova Y, Brousil R, Deberdt W. Schizophrenia symptoms and functioning in

patients receiving long-term treatment with olanzapine long-acting injection formulation: a pooled analysis. BMC Psychiatry 2012; 12: 130.

• Majercikova Z, Horvathova L, Osacka J, Pecenak J, Kiss A. Impact of repeated asenapine treatment on FosB/ΔFosB expression in the forebrain structures under normal conditions and mild stress preconditioning in the rat. Brain Res Bull 2016; 127: 29-37.

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J. Autism

InvestigatorsProf. Daniela Ostatníková, MD, PhD ([email protected])Katarína Babinská, MD, PhDSilvia Hnilicová, MD, PhDAlexandra Tomová, MD, PhDAneta Kubranská, MD, PhDMária Vidošovičová, MDJán Bakoš, RNDr, PhDJaroslava Durdiaková, RNDr, PhDLenka Siklenková, MDAssoc. Prof. Peter Celec, MD, Dipl Eng, Dr Rer Nat, DSc, MPHAssoc. Prof. Mária Bucová, MD, PhD

Grants and Funding (in the last 10 years)• APVV 15-0045: Autism spectrum disorders from genotype-phenotype perspectives (2016-2019)• APVV 15-0085: Autism in the light of emotional, cognitive and biological contexts (2016-2019)• APVV 0254-11: Social, emotional, and cognitive picture of autism in interdisciplinary reflections (2012-2014)• VEGA1/0141/17: Immunogenetic factors and chronic low grade inflammation in pathomechanisms of autism

and their associations with gastrointestinal dysfunction, behavioual and biological markers (2017-2019)• VEGA1/0086/14: Molecular biological analysis of fecal microflora and its impact on inflammation and

gastrointestinal symptoms in autistic children (2014-2016)• VEGA1/0066/12: Genetic factors as modulators of hormonal influences on cognitive functions (2013-2015)• VEGA 1/0955/17: Multimodality of emotion regulation development in adolescents with the typical and atypical

development. Perspective of complex dynamic interplay of structural and functional biological, psychological and social environmental system changes (2017-2020)

Plans for future research• Investigation of autism etiology• Interventional studies• Investigation of autism epidemiology• Investigation of the role of inflammation, new inflammatory molecules, cytokines and vitamin D in disease

pathology• Investigation of sleep disorders in autism• Investigation of proteomic and metabolomic profiles in autism

Devices and methods• Sysmex – blood cell analyzer• Centrifuges• PCR cyclers• Spectrophotometer• ELISA reader• Electrophoresis • Actigraph – assessment of sleep disorders by actigraphy• Mass spectrometry - proteomic and metabolomic profiling

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Selected publications• Kelemenova S, Schmidtova E, Ficek A, Celec P, Kubranska A, Ostatnikova D. Polymorphisms of candidate genes in Slovak

autistic patients. Psychiatr Genet 2010, 20: 137-9.• Durdiakova J, Ostatnikova D, Celec P. Testosterone and its metabolites-modulators of brain functions. Acta Neurobiol Exp

2011; 71: 434-54.• Celec P, Tretinarova D, Minarik G, Ficek A, Szemes T, Lakatosova S, Schmidtova E, Turna J, Kadasi L, Ostatnikova D. Genetic

polymorphisms related to testosterone metabolism in intellectually gifted boys. PLoS One 2013; 8: e54751.• Durdiakova J, Lakatosova S, Kubranska A, Laznibatova J, Ficek A, Ostatnikova D, Celec P. Mental rotation in intellectually

gifted boys is affected by androgen receptor CAG repeat polymorphism. Neuropsychol 2013; 51: 1693-8.• Pivovarciova A, Hnilicova S, Ostatnikova D, Mace FC. Testosterone and explosive aggression in Autism Spectrum Disorder.

Neuro Endocrinol Lett 2014; 35: 553-9.• Kubranská A, Lakatošová S, Schmidtová E, Durdiaková J, Celec P, Ostatníková D. Spatial abilities are not related to testosterone

levels and variation in the androgen receptor in healthy young men. Gen Physiol Biophys 2014; 33: 311-9. • Babinská K, Bucová M, Ďurmanová V, Lakatošová S, Jánošíková D, Bakoš J, Hlavatá A, Ostatníková D. Increased plasma

levels of the high mobility group box 1 protein (HMGB1) are associated with a higher score of gastrointestinal dysfunction in individuals with autism. Physiol Res 2014; 63: S613-8.

• Pivovarciova A, Hnilicova S, Ostatnikova D, Mace FC. Bio-behavioral model of aggression in autism spectrum disorders-pilot study. Bratisl Lek Listy 2015; 116: 702-6.

• Pivovarciova A, Durdiakova J, Hnilicova S, Filcikova D, Ostatnikova D. Testosterone in relation to behavioral problems in pre-pubertal boys with autism spectrum disorders. Physiol Res 2015; 64: S595-601.

• Vokálová L, Durdiaková J, Ostatníková D. Topoisomerases interlink genetic network underlying autism. Int J Dev Neurosci 2015; 47: 361-8.

• Bakos J, Bacova Z, Grant SG, Castejon AM, Ostatnikova D. Are molecules involved in neuritogenesis and axon guidance related to autism pathogenesis? Neuromolecular Med 2015; 17: 297-304.

• Filova B, Malinova M, Babickova J, Tothova L, Ostatnikova D, Celec P, Hodosy J. Effects of testosterone and estradiol on anxiety and depressive-like behavior via a non-genomic pathway. Neurosci Bull 2015; 31: 288-96.

• Tomova A, Husarova V, Lakatosova S, Bakos J, Vlkova B, Babinska K, Ostatnikova D. Gastrointestinal microbiota in children with autism in Slovakia. Physiol Behav 2015; 138: 179-87.

• Durdiaková J, Celec P, Laznibatová J, Minárik G, Ostatníková D. Testosterone metabolism: a possible biological underpinning of non-verbal IQ in intellectually gifted girls. Acta Neurobiol Exp (Wars) 2016; 76: 66-74.

• Husarova VM, Lakatosova S, Pivovarciova A, Babinska K, Bakos J, Durdiakova J, Kubranska A, Ondrejka I, Ostatnikova D. Plasma Oxytocin in Children with Autism and Its Correlations with Behavioral Parameters in Children and Parents. Psychiatry Investig 2016 13: 174-83.

• Babinská K, Pivovarčiová A, Filčíková Diana, Tomova A, Ostatníková D. Association of conduct problems and gastrointestinal symptoms in individuals with autism spectrum disorders. Act Nerv Super Rediviva 2016; 58: 69–72.

• Filcikova D. Mravec B. Alterations in autonomic nervous system in autism spectrum disorders: Means of detection and intervention. Act Nerv Super Rediviva 2016; 58: 115-7.

• Pivovarciova A, Durdiakova J, Babinska K, Kubranska A, Vokalova L, Minarik G, Celec P, Murin M, Ostatnikova D. Testosterone and Androgen Receptor Sensitivity in Relation to Hyperactivity Symptoms in Boys with Autism Spectrum Disorders. PLoS One 2016; 24: e0149657.

• Bakos J, Zatkova M, Bacova Z, Ostatnikova D. The role of hypothalamic neuropeptides in neurogenesis and neuritogenesis. Neural Plast 2016; 2016: 3276383.

• Zatkova M, Bakos J, Hodosy J, Ostatnikova D. Synapse alterations in autism: Review of animal model findings. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016, 160: 201-10.

• Hnilicová S, Celušáková H, Hnilica P, Babinská, K, Ostatníková D. Screening for autism spectrum disorders in population of young children in Slovakia. Act Nerv Super Rediviva 2017; 59: 101-4.

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K. Neurobiology of cancer

InvestigatorsProf. Boris Mravec, MD, PhD ([email protected])Ivana Siváková, RNDr, PhDKatarína Ondičová, MVD, PhDZuzana Poljak-Valašková, RNDr, PhD

Grants and Funding (in the last 10 years)• APVV-0007-10: Neurobiology of cancer: the study of nervous system role in cancer growth and development of

metastases (2011-2014)• APVV-0045-06: The role of nervous system in monitoring and modulation of tumorigenesis. New approach in

the study of cancer etiopathogenesis (2007-2009)

Plans for future research• Investigation of innervation of selected human cancers• Investigation of hypothalamus role in mechanisms of cancer cachexia

Devices and methods• Stereotaxic apparatus for small laboratory animals• Surgical microscope• Cooling plate for microdissection of brain structures

Selected publications• Mravec B, Gidron Y, Hulin I. Neurobiology of cancer: interactions between nervous, endocrine and immune systems as a base

for monitoring and modulating the tumorigenesis by the brain. Semin Cancer Biol 2008; 18: 150-63.• Ondicova K, Mravec B. Role of nervous system in cancer aetiopathogenesis. Lancet Oncol 2010; 11: 596–601.• Mravec B. The brain as a target for development of new class of drugs for the treatment of somatic diseases. Exp Opion Ther Targ

2012; 16: 433-7.• Lackovicova L, Gaykema RP, Banovska L, Kiss A, Goehler LE, Mravec B. The time-course of hindbrain neuronal activity varies

according to location during either intraperitoneal or subcutaneous tumor growth in rats: single Fos and dual Fos/dopamine β-hydroxylase immunohistochemistry. J Neuroimmunol 2013; 260: 37-46.

• Horvathova L, Tillinger A, Sivakova I, Mikova L, Mravec B, Bucova M. Chemical sympathectomy increases neutrophil-to-lymphocyte ratio in tumor-bearing rats but does not influence cancer progression. J Neuroimmunol 2015; 278:255-61.

• Horvathova L, Padova A, Tillinger A, Osacka J, Bizik J, Mravec B. Sympathectomy reduces tumor weight and affects expression of tumor-related genes in melanoma tissue in the mouse. Stress 2016; 19: 528-34.

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CARDIOVASCULAR DISEASES

Cardiovascular Diseases

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Research area Topic Specification

Cardiovascular diseases

Heart diseases

Hypertension New pharmacological approaches for protection of hypertension-induced heart damage

Heart failure Early changes in cardiovascular system in arterial hypertension

Remodeling in cardiovascular system

RAAS and remodeling

Cardiotoxicity/oncocardiology

Detection of cardiotoxicity of anti-cancer drugs

Hereditary defects Genetic polymorphisms and the risk of hereditary heart defects

Vascular diseasesVaricosity Investigation of structures of wall of primary varicose

veins

Endothelium Drug effects on endothelial dysfunction

Treatment

Pharmacoepidemiology of cardiovascular diseases

Adherence of patients to drugs used for secondary prevention of cardiovascular diseases in elderly

Drugs for the therapy of hypertension

Role of L-NAME

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In the field of cardiovascular disease, research at Faculty of Medicine in Bratislava is focused mainly on investigation of etiopathogenesis of hypertension, heart failure and vessels diseases. Original data were obtained from experiments investigating mechanisms of heart failure and remodeling in cardiovascular system.

Principal investigatorsProf. Viera Štvrtinová, MD, PhDProf. Beáta Mladosievičová, MD, PhDProf. Jozef Mašura, MD, PhD, FSCAI, FESC, FAEPCProf. Andrej Dukát, MD, PhDAssoc. Prof. Ľudovít Gašpar, MD, PhDProf. Ján Murín, MD, PhDĽudovít Paulis, MD, MSc, PhDProf. Fedor Šimko, MD, PhDProf. Martin Wawruch, MD, PhDAssoc. Prof. Jana Poláková-Mištinová, MD, PhD

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A. Hypertension

InvestigatorsProf. Ján Murín, MD, PhD ([email protected])Prof. Martin Wawruch, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0939/14: Augmentation (augmentation index) of systolic blood pressure and aortal stiffness and therapy

of arterial hypertension and its complications (2014-2016)

Selected publications• Valentová M, von Haehling S, Doehner W, Murín J, Anker SD, Sandek A. Liver dysfunction and its nutritional implications in

heart failure. Nutrition 2013; 29: 370-8.• Valentova M, von Haehling S, Bauditz J, Doehner W, Ebner N, Bekfani T, Elsner S, Sliziuk V, Scherbakov N, Murín J, Anker

SD, Sandek A. Intestinal congestion and right ventricular dysfunction: a link with appetite loss, inflammation and cachexia in chronic heart failure. Eur Heart J 2016; 37: 1684-91.

• Bulas J, Potočárová M, Murín J, Kozlíková K, Luha J, Čaprnda M. Central Systolic Hypertension in Patients with Well-Controlled Hypertension. Biomed Res Int 2017; 2017: 8158974.

• Celec P, Hodosy J, Jáni P, Janega P, Kúdela M, Kalousová M, Holzerová J, Parrák V, Halčák L, Zima T, Braun M, Pecháň I, Murín J, Šebeková K. Advanced glycation end products in myocardial reperfusion injury. Heart Vessels 2012; 27: 208-15.

• Dobre D, Rossignol P, Murin J, Parkhomenko A, Lamiral Z, Krum H, van Veldhuisen DJ, Pitt B, Zannad F. Statin therapy and clinical outcomes in myocardial infarction patients complicated by acute heart failure: insights from the EPHESUS trial. Eur J Heart Fail 2013; 15: 221-7.

• Gamra H, Murin J, Chiang CE, Naditch-Brûlé L, Brette S, Steg PG; RealiseAF investigators. Use of antithrombotics in atrial fibrillation in Africa, Europe, Asia and SouthAmerica: Insights from the International Realise AF Survey. Arch Cardiovasc Dis 2014; 107: 77-87.

• Chiang CE, Naditch-Brûlé L, Murin J, Goethals M, Inoue H, O‘Neill J, Silva-Cardoso J, Zharinov O, Gamra H, Alam S, Ponikowski P, Lewalter T, Rosenqvist M, Steg PG. Distribution and risk profile of paroxysmal, persistent, and permanent atrial fibrillation in routine clinical practice. Insight from the real-life global survey evaluating patients with Atrial Fibrillation International Registry. Circ Arrhythm Electrophysiol 2012; 5: 632-9.

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B. Heart failure

InvestigatorsProf. Fedor Šimko, MD, PhD ([email protected])

Grants and Funding (in the last 10 years)• VEGA 1/3429/06: Modification of heart hypertrophy and heart failure in NO (nitric oxide)-deficient

hypertension in rats by melatonin (2006-2008)• VEGA 1/0187/09: Modification of heart hypertrophy and heart failure in continuous light-induced hypertension

in rats by melatonin and captopril (2009-2011)• VEGA 1/0227/12: Novel model of experimental hypertension, remodeling of left ventricule and heart failure

induced by inhivition of transcption nuclear factor kappa B (NF-kB): protection by melatonin and captopril (2012-2014)

• VEGA 1/0071/15: Protection of hypertensive and failing heart by blocker of I(f) channel, ivabradine: comparison with ACE-inhibition and melatonin (2015-2018)

• NOREG - Centre of Excellence for Research on the regulatory role of nitric oxide in diseases of civilization (2011-2014)

• APVV -0538-07: Hypertension and diabetes as part of the metabolic syndrome: the effect of antioxidant therapy (2007-2009)

Selected publications• Simko F. Is NO the king? Pathophysiological benefit with uncertain clinical impact. Physiol Res 2007; 56: S1-6.• Paulis L, Simko F. LA419, a novel nitric oxide donor, prevents cardiac remodeling via the endothelial nitric oxide synthase

pathway: NO donors as a means of antiremodeling. Hypertension 2007, 50: 1009-11.• Simko F. Statins: a perspective for left ventricular hypertrophy treatment. Eur J Clin Invest 2007, 37: 681-91.• Simko F, Paulis L. Melatonin as a potential antihypertensive treatment. J Pineal Res 2007; 42: 319-22.• Simko F, Paulis L. Chronotherapy beyond blood pressure reduction? J Pineal Res 2008; 45: 227-28.• Simko F, Pechanova O, Pelouch V, Krajcirovicova K, Müllerova M, Repova K, Adamcova M, Paulis L. Effect of melatonin,

captopril, spironolactone and simvastatin on blood pressure and left ventricular remodelling in spontaneously hypertensive rats. J Hypertens 2009; 27: S5-10.

• Pechanova O, Simko F. Chronic antioxidant therapy fails to ameliorate hypertension: potential mechanisms behind. J Hypertens 2009; 27: S32-6.

• Simko F, Pechanova O. Recent trends in hypertension treatment: perspectives from animal studies. J Hypertens 2009; 27: S1-4.• Simko F, Pechanova O. Potential roles of melatonin and chronotherapy among the new trends in hypertension treatment. J

Pineal Res 2009; 47: 127-33.• Pechanova O, Simko F. The role of nuclear factor kappa B and nitric oxide interaction in heart remodelling. J Hypertens 2010;

28: S39-44.• Simko F, Pechanova O, Pelouch V, Krajcirovicova K, Celec P, Palffy R, Repova K, Vrankova S, Adamcova M, Paulis L.

Continuous light and L-NAME-induced left ventricular remodelling: different protection with melatonin and captopril. J Hypertens 2010; 28: S13-8.

• Simko F, Pechanova O. Remodelling of the heart and vessels in experimental hypertension: advances in protection. J Hypertens 2010; 28: S1-6.

• Paulis L, Pechanova O, Zicha J, Barta A, Gardlik R, Celec P, Kunes J, Simko F. Melatonin interactions with blood pressure and vascular function during L-NAME-induced hypertension. J Pineal Res 2010; 48: 102-8.

• Simko, F, Paulis L. Hypertensive heart disese: bone marrow as a significant player in pathologic remodelling? J Hypertens 2012; 30: 1702-5.

• Simko F. Chronobiology of blood pressure: emerging implications of melatonin. Europ J Clin Invest 2012; 42: 1252-4.

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• Paulis L, Simko F, Laudon M. Cardiovascular effects of melatonin receptor agonists. Expert Opin Invest Drugs 2012; 21:1661-78.• Simko F, Paulis L. Antifibrotic effect of melatonin-Perspective protection in hypertensive heart disease. Int J Cardiol 2013; 168:

2876-7.• Simko F, Reiter RJ, Pechanova O, Paulis L. Experimental models of melatonin-deficient hypertension. Front Biosci (Landmark

Ed) 2013; 18: 616-25.• Simko F, Pechanova O, Repova K, Krajcirovicova K, Celec P, Kamodyova N, Zorad S, Kucharska J, Gvozdjakova A, Adamcova

M, Paulis L. Hypertension and cardiovascular remodelling in rats exposed to continuous light: protection by ACE-inhibition andmelatonin. Mediators Inflamm 2014; 2014: 3175.

• Simko F, Repova K, Krajcirovicova K, Hrenak J, Celec P, Kamodyova N, Gajdosechova L, Zorad S, Adamcova M. Melatonin reduces cardiac remodeling and improves survival in rats with isoproterenol-induced heart failure. J Pineal Res 2014, 57: 177-84.

• Simko F, Pechanova O, Krajcirovicova K, Matuskova J, Pelouch V, Adamcova M, Paulis L. Effects of captopril,spironolactone, and simvastatin on the cardiovascular system of non-diseased Wistar rats. Int J Cardiol 2015; 190: 128-30.

• Simko F, Baka T, Paulis L, Reiter R J. Elevated heart rate and nondipping heart rate as potential targets for melatonin: a review. J Pineal Res 2016; 61: 127-37.

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C. Remodeling in cardiovascular system

InvestigatorsĽudovít Paulis, MD, MSc, PhD ([email protected])

Grants and Funding (in the last 10 years)• APVV-0205-11: The effect of long-term stimulation of AT2 receptors on cardiovascular system: the effect on

remodeling and its mechanisms (2012-2015)• VEGA 1/0380/14: The effect of pharmacological stimulation of AT2 receptors on morphology and functional

characteristics of failing myocardium in rats (2014-2016)• VEGA 1/0831/11: Possible modulation of myocardial and vessels remodeling by pharmacological stimulation of

AT2 receptors (2011-2013)

Selected publications• van Thiel BS, Góes Martini A, Te Riet L, Severs D, Uijl E, Garrelds IM, Leijten FPJ, van der Pluijm I, Essers J, Qadri F, Alenina

N, Bader M, Paulis L, Rajkovicova R, Domenig O, Poglitsch M, Danser AHJ. Brain renin-angiotensin system: Does it exist? Hypertension 2017; 69: 1136-44.

• Paulis L, Foulquier S, Namsolleck P, Recarti C, Steckelings UM, Unger T. Combined angiotensin receptor modulation in the management of cardio-metabolic disorders. Drugs 2016; 76: 1-12.

• Paulis L, Rajkovicova R, Simko F. New developments in the pharmacological treatment of hypertension: dead-end or a glimmer at the horizon? Curr Hypertens Rep 2015; 17: 557.

• Paulis L, Fauconnier J, Cazorla O, Thireau J, Soleti R, Vidal B, Ouillé A, Bartholome M, Bideaux P, Roubille F, Le Guennec JY, Andriantsitohaina R, Martínez MC, Lacampagne A. Activation of Sonic hedgehog signaling in ventricular cardiomyocytes exerts cardioprotection against ischemia reperfusion injuries. Sci Rep 2015; 5: 7983.

• Simko F, Pechanova O, Repova Bednarova K, Krajcirovicova K, Celec P, Kamodyova N, Zorad S, Kucharska J, Gvozdjakova A, Adamcova M, Paulis L. Hypertension and cardiovascular remodelling in rats exposed to continuous light: protection by ACE-inhibition and melatonin. Mediators Inflamm 2014; 2014: 703175.

• Schmerler P, Jeuthe S, O h-Ici D, Wassilew K, Lauer D, Kaschina E, Kintscher U, Müller S, Muench F, Kuehne T, Berger F, Unger T, Steckelings UM, Paulis L, Messroghli D. Mortality and morbidity in different immunization protocols for experimental autoimmune myocarditis in rats. Acta Physiol (Oxf) 2014; 210: 889-98.

• Hrenák J, Arendášová K, Rajkovičová R, Aziriová S, Repová K, Krajčírovičová K, Celec P, Kamodyová N, Bárta A, Adamcová M, Paulis L, Simko F. Protective effect of captopril, olmesartan, melatonin and compound 21 on doxorubicin-induced nephrotoxicity in rats. Physiol Res 2013; 62: S181-9.

• Simko F, Reiter RJ, Pechanova O, Paulis L. Experimental models of melatonin-deficient hypertension. Front Biosci (Landmark Ed) 2013; 18: 616-25.

• Paulis L, Simko F, Laudon M. Cardiovascular effects of melatonin receptor agonists. Expert Opin Investig Drugs 2012; 21: 1661-78.

• Paulis L, Steckelings UM, Unger T. Key advances in antihypertensive treatment. Nat Rev Cardiol 2012; 9: 276-85.• Paulis L, Becker ST, Lucht K, Schwengel K, Slavic S, Kaschina E, Thöne-Reineke C, Dahlöf B, Baulmann J, Unger T, Steckelings

UM. Direct angiotensin II type 2 receptor stimulation in Nω-nitro-L-arginine-methyl ester-induced hypertension: the effect on pulse wave velocity and aortic remodeling. Hypertension 2012; 59: 485-92.

• Unger T, Paulis L, Sica DA. Therapeutic perspectives in hypertension: novel means for renin-angiotensin-aldosterone system modulation and emerging device-based approaches. Eur Heart J 2011; 32: 2739-47.

• Paulis L, Pechanova O, Zicha J, Liskova S, Celec P, Mullerova M, Kollar J, Behuliak M, Kunes J, Adamcova M, Simko F. Melatonin improves the restoration of endothelium-derived constricting factor signalling and inner diameter in the rat femoral artery after cessation of L-NAME treatment. J Hypertens 2010; 28: S19-24.

• Paulis L, Unger T. Novel therapeutic targets for hypertension. Nat Rev Cardiol 2010; 7: 431-41.

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• Paulis L, Pechanova O, Zicha J, Barta A, Gardlik R, Celec P, Kunes J, Simko F. Melatonin interactions with blood pressure and vascular function during L-NAME-induced hypertension. J Pineal Res 2010; 48: 102-8.

• Paulis L, Pechanova O, Zicha J, Krajcirovicova K, Barta A, Pelouch V, Adamcova M, Simko F. Melatonin prevents fibrosis but not hypertrophy development in the left ventricle of NG-nitro-L-arginine-methyl ester hypertensive rats. J Hypertens Suppl 2009; 27: S11-6.

• Paulis L, Zicha J, Kunes J, Hojna S, Behuliak M, Celec P, Kojsova S, Pechanova O, Simko F. Regression of L-NAME-induced hypertension: the role of nitric oxide and endothelium-derived constricting factor. Hypertens Res 2008; 31: 793-803.

• Paulis L, Matuskova J, Adamcova M, Pelouch V, Simko J, Krajcirovicova K, Potacova A, Hulin I, Janega P, Pechanova O, Simko F. Regression of left ventricular hypertrophy and aortic remodelling in NO-deficient hypertensive rats: effect of L-arginine and spironolactone. Acta Physiol (Oxf) 2008; 194: 45-55.

• Paulis L, Simko F. Blood pressure modulation and cardiovascular protection by melatonin: potential mechanisms behind. Physiol Res 2007; 56: 671-84.

• Paulis L, Simko F. LA419, a novel nitric oxide donor, prevents cardiac remodeling via the endothelial nitric oxide synthase pathway: NO donors as a means of antiremodeling. Hypertension 2007; 50: 1009-11.

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D. Cardiotoxicity

InvestigatorsProf. Beata Mladosievičová, MD, PhD ([email protected])

Grants and Funding (in the last 10 years)• MZ SR 2007/42-UK-18: Complex diagnostic and monitoring of consequences of anti-cancer therapy with focus

on genetic aspects of cytostatics toxicity - PharmakoGen (2007-2010)• VEGA 1/4307/07: Long-lasting complications in oncological patients treated in childhood and adolescent period

- new multidisciplinary problem (2007-2009)• VEGA 1/0906/14: Biomarkers and genetic predictors of anti-cancer drugs toxicity (2014-2016)• League against Cancer Slovak Republic: Modern diagnostics of lipoproteins in haematooncologic patients after

allogeneic haematopoietic stem cells transplantation (2015)

Selected publications• Mladosievičová B, Kaiserová E, Foltinová A, Čáp J, Hlivová I, Kapellerová A, Lehotská V, Mišíková Ž, Šufliarska S. Potential late

effects of anticancer therapy in childhood: Pathogenesis, early diagnosis, therapy, prevention. 1st edition. Bratislava: SAP, 2007; 212 pp.

• Mladosievicova B, Carter A, Kristova V. Genetic tests for predicting the toxicity and efficacy of anticancer chemotherapy. Neoplasma 2007; 54: 181-8.

• Urbanova D, Urban L, Simkova I, Danova K, Mikuskova E, Mladosievicova B. Long-term cardiac effects of treatment for childhood leukemia. Neoplasma 2010; 57: 179-83.

• Soltysova A, Minarik G, Dzurenkova A, Sufliarska S, Kadasi L, Turna J, Mladosievicova B.APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population. Pharmacogenomics 2011; 12: 577-92.

• Mladosievicova B, Urbanova D, Radvanska E, Slavkovsky P, Simkova I. Role of NT-proBNP in detection of myocardial damage in childhood leukemia survivors treated with and without anthracyclines. J Exp Clin Cancer Res 2012; 31:86.

• Roziakova L, Bojtarova E, Mistrik M, Dubrava J, Gergel J, Lenkova N, Mladosievicova B. Serial measurements of cardiac biomarkers in patients after allogeneic hematopoietic stem cell transplantation. J Exp Clin Cancer Res 2012; 31: 13.

• Roziakova L, Mistrik M, Batorova A, Kruzliak P, Bojtarova E, Dubrava J, Gergel J, Mladosievicova B. Can we predict clinical cardiotoxicity with cardiac biomarkers in patients after haematopoietic stem cell transplantation? Cardiovasc Toxicol 2015; 15: 210-6.

• Mladosievičová B. Cardiooncology. 2nd edition. Praha: Grada Publishing a.s, 2014; 208 pp.• Pitekova B, Ravi S, Shah SV, Mladosievicova B, Heitner S, Ferencik M. The role of imaging with cardiac computed tomography

in cardio-oncology patients. Curr Cardiol Rep 2016; 18: 87.

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E. Inherited heart defects

InvestigatorsProf. Jozef Mašura, MD, PhD, FSCAI, FESC, FAEPC ([email protected])

Grants and Funding (in the last 10 years)• VEGA 1/0593/11: Polymorphisms in methylentetrahydropholate reductase and risk of inherited heart defects

(2001 -2013)

Selected publications• Widimský P, Suryapranata H, Vahanian A, Mašura J. Catheterization and interventional cardiology in adult patients. 1st

edition. New York: Oxford University Press 2010; 136 pp.• Masura J, Tittel P, Gavora P, Podnar T. Long-term outcome of transcatheter patent ductus arteriosus closure using Amplatzer

duct occluders. Am Heart J 2006; 151: 755.e7-10.• Masura J, Bordacova L, Tittel P, Berden P, Podnar T. Percutaneous management of cyanosis in Fontan patients using Amplatzer

occluders. Catheter Cardiovasc Interv 2008; 71: 843-9.• Venczelova Z1, Tittel P, Masura J. The new Amplatzer duct occluder II: when is its use advantageous? Cardiol Young 2011; 21:

495-504.• Venczelova Z, Tittel P, Masura J. First experience with AndraStent XL implantation in children and adolescents with congenital

heart diseases. Catheter Cardiovasc Interv 2013; 81: 103-10.

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F1. Vascular diseases

InvestigatorsProf. Viera Štvrtinová, MD, PhD ([email protected])Assoc. Prof. Ľudovít Gašpar, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/7506/20: The role of polymorphonuclear leukocytes in etiopathogenesis of microcirculation defects in

patients with chronic disease of venous system of lover extremities (2000-2002)

Selected publications• Štvrtinová V. Diseases of the vessels. 1st edition; Bratislava: SAP, 2008. 896 pp.• Rovenský J, Leeb B, Howard FB, Štvrtinová V, Imrich R. Polymyalgia rheumatica and giant cell arteritis. Wien: Springer 2010;

91 pp.• Štvrtinová V. Limb pain. 1st edition; Bratislava: SAP 2012; 165 pp.• Krahulec B, Gašpar Ľ, Štvrtinová V. Management of patient with diabetic foot syndrome. 1st edition; Bratislava: Veda 2013; 400 pp.• Andreozzi GM, Kalodiki E, L Gašpar L, Martini R, Minar E, Angelides N, Nicolaides AN, Novo S, Visonà A, Prior M, Arosio

E, Hussein EA, Poredos P, Antignani PL, Avram R, Roztocil K, Stvrtinova V, Kozak M, Vacula I; Central European Vascular Forum; Mediterranean League of Angiology and Vascular Surgery; North Africa and Middle East Chapter of International Union of Angiology. Consensus Document on Intermittent Claudication from the Central European Vascular Forum(CEVF)-3rd revision (2013) with the sharing of the Mediterranean League of Angiology and Vascular Surgery, and the North Africa and Middle East Chapter of International Union of Angiology. Int Angiol 2014; 33: 329-47.

• Catalano M, Poredos P, Brodmann M, Wautrecht JC, Carpentier P, Roztocil K, Nikol S, Dimakakos EP, Marakomichelakis G, Pecsvarady Z, Carlizza A, Sieron A, Stanek A, Olinic D, Stvrtinova V, Kozak M, Agewall S, Amann-Vesti B, Gallino A, Fitzgerald P, Colgan MP.UEMS training requirements for angiology and vascular medicine: European standards of postgraduate medical specialist training (ETR Document). Int Angiol 2016; 35: 217-31.

• Ferencík M, Stvrtinová V, Hulín I, Novák M. Inflammation - a lifelong companion: Attempt at a non-analytical holistic view. Folia Microbiol (Praha) 2007; 52: 159-73.

• Kalodiki E, Stvrtinova V, Allegra C, Andreozzi G, Antignani PL, Avram R, Brkljacic B, Cadariou F, Dzsinich C, Fareed J, Gaspar L, Geroulakos G, Jawien A, Kozak M, Lattimer CR, Minar E, Partsch H, Passariello F, Patel M, Pécsvárady Z, Poredos P, Roztocil K, Scuderi A, Sparovec M, Szostek M, Skorski M. Superficial vein thrombosis: a consensus statement. Int Angiol 2012; 31: 203-16.

• Michiels JJ, Moosdorff W, Maasland H, Michiels JM, Lao MU, Neumann HA, Dulicek P, Stvrtinova V, Barth J, Palareti G.Duplex ultrasound, clinical score, thrombotic risk, and D-dimer testingfor evidence based diagnosis and management of deep vein thrombosis and alternative diagnoses in the primary care setting and outpatient ward. Int Angiol 2014; 33: 1-19.

• Petrovic T, Koller T, Stvrtinova V, Payer J. Cancer as a risk factor for residual pulmonary embolism. Int Angiol 2012; 31: 283-88.• Vacula I, Ambrózy E, Makovník M, Stvrtina S, Babál P, Stvrtinová V. Cryoglobulinemia manifested by gangraene of almost all

fingers and toes. Int Angiol 2010; 29: 560-4.• Madaric J, Klepanec A, Valachovicova M, Mistrik M, Bucova M, Olejarova I, Necpal R, Madaricova T, Paulis L, Vulev I.

Characteristics of responders to autologous bone marrow cell therapy for no-option critical limb ischemia. Stem Cell Res Ther 2016; 7: 116.

• Gaspar L, Kruzliak P, Komornikova A, Celecova Z, Krahulec B, Balaz D, Sabaka P, Caprnda M, Kucera M, Rodrigo L, Uehara Y, Dukat A. Orthostatic hypotension in diabetic patients-10-year follow-up study. J Diabetes Complications 2016; 30: 67-71.

• Gaspar L, Reich M, Kassai Z, Macasek F, Rodrigo L, Kruzliak P, Kovac P. Long-term quality assurance of [(18)F]-fluorodeoxyglucose (FDG) manufacturing. Am J Nucl Med Mol Imaging 2016; 6: 154-65.

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F2. Vascular diseases

InvestigatorsProf. Viera Kristová, MD, PhD ([email protected])Robert Vojtko, MD, PhDMiriam Petrová, MD, PhDLukáš Dobiaš, PharmDr, PhD

Grants and Funding (in the last 10 years)• VEGA1/2293/05: Study of endothelium-protective effects on experimentals models of endothelial damage (2005-

2007)• VEGA 1/0314/08: Evaluation of drug effects on endothelial dysfunction in experimental and clinical conditions

(2008-2010)• VEGA 1/ 0501/11: The role of endothelium-released factors in contraction of isolated vessels in the development

of hypertension (2011-2013)

Selected publications• Kristova V, Kiss A, Pirnik Z, Kriska M, Jezova D. Effect of pentoxifylline on endothelaemia and hypothalamic-pituitary-

adrenocortical axis activation in female rats under stress exposure. Gen Physiol Biophys 2006; 25: 81-9.• Babal P, Kristova V, Cerna A, Janega P, Pechanova O, Danihel L, Andriantsitohaina R. Red wine polyphenols prevent endothelial

damage induced by CCl4 administration. Physiol Res 2006; 55: 245-51.• Zurova-Nedelcevova J, Navarova J, Drabikova K, Jancinova V, Petrikova M, Bernatova I, Kristova V, Snirc V, Nosalova V, Sotnikova

R. Participation of reactive oxygen species in diabetes-induced endothelial dysfunction. Neuro Endocrinol Lett 2006; 2: 168-71.• Rajec J, Tisonova J, Kriska M, Kristova V, Vojtko R, Dukat A, Ambrozy E, Slysko R, Varga I. Endothelaemia--a marker of vascular

damage. Bratisl Lek Listy 2007; 108: 403-5.• Durisova M, Dedik L, Kristova V, Vojtko R. Mathematical model indicates nonlinearity of noradrenaline effect on rat renal artery.

Physiol Res 2008; 57: 785-8.• Kristova V, Liskova S, Sotnikova R, Vojtko R, Kurtansky A. Sulodexide improves endothelial dysfunction in streptozotocin-induced

diabetes in rats. Physiol Res 2008; 57: 491-4.• Liskova S, Petrova M, Karen P, Kunes J, Zicha J. Influence of calcium-dependent potassium channel blockade and nitric oxide

inhibition on norepinephrine-induced contractions in two forms of genetic hypertension. J Am Soc Hypertens 2010; 4: 128-34.• Liskova S, Petrova M, Karen P, Kunes J, Zicha J. Effects of aging and hypertension on the participation of endothelium-derived

constricting factor(EDCF) in norepinephrine-induced contraction of rat femoral artery. Eur J Pharmacol 2011; 667: 265-70.• Sotnikova R, Nedelcevova J, Navarova J, Nosalova V, Drabikova K, Szocs K, Krenek P, Kyselova Z, Bezek S, Knezl V, Drimal J,

Broskova Z, Kristova V, Okruhlicova L, Bernatova I, Bauer V. Protection of the vascular endothelium in experimental situations. Interdiscip Toxicol 2011; 4: 20-6.

• Kristova V, Kriska M, Vojtko R, Petrova M, Liskova S, Villaris R, Varga Z, Wawruch M. Trends in vascular pharmacology research in the Department of Pharmacology and Clinical Pharmacology, Faculty of Medicine, Comenius University, Bratislava. Interdiscip Toxicol 2011; 4: 40-6.

• Petrova M, Liskova S, Vojtko R, Villaris R, Varga Z, Zicha J, Kristova V. Vascular reactivity of arteria femoralis in adult and aged spontaneously hypertensive and Wistar-Kyoto rats. Bratisl Lek Listy 2013; 114: 553-5.

• Behuliak M, Pinterova M, Bencze M, Petrova M, Liskova S, Karen P, Kunes J, Vaneckova I, Zicha J. Ca2+ sensitization and Ca2+ entry in the control of blood pressure and adrenergic vasoconstriction in conscious Wistar-Kyoto and spontaneously hypertensive rats. J Hypertens 2013; 31: 2025-35.

• Liskova S, Petrova M, Karen P, Behuliak M, Zicha J. Contribution of Ca²⁺-dependent Cl⁺ channels to norepinephrine-induced contraction of femoral artery is replaced by increasing EDCF contribution during ageing. Biomed Res Int 2014; 2014:289361.

• Varga Z, Kriska M, Kristova V, Petrova M. Analysis of non-steroidal anti-inflammatory drug use in hospitalized patients and perception of their risk. Interdiscip Toxicol 2013; 6: 141-4.

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• Dobias L, Petrova M, Vojtko R, Ulicna O, Vancova O, Kristova V. Effect of sulodexide on vascular responses and liver mitochondrial function in diabetic rats. Physiol Res 2015; 4: 497-505.

• Dobias L, Petrova M, Vojtko R, Kristova V. Long-term treatment with hesperidin improves endothelium-dependent vasodilation in femoral artery of spontaneously hypertensive rats: The involvement of NO-synthase and K(v) channels. Phytother Res 2016; 30: 1665-71.

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G. Pharmacoepidemiology of cardiovascular diseases

InvestigatorsProf. Martin Wawruch, MD, PhD ([email protected])Prof. Jan Murin, MD, PhDJan Luha, RNDr, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0135/09: Specific features of pharmacotherapy in geriatrics and the possibilities of its quality assessment

(2009-2011)• VEGA 1/0886/14: Suboptimal use of drugs in secondary prevention of cardiovascular diseases in elderly patients

(2014-2016)• VEGA 1/0112/17: Adherence with pharmacotherapy – a basic precondition of successful secondary prevention

of cardiovascular diseases in elderly patients (2017-2019)

Selected publications• Wawruch M, Zikavska M, Wsolova L, Jezova D, Fialova D, Kunzo M, Kuzelova M, Lassanova M, Kruty P, Kriska M. Perception

of potentially inappropriate medication in elderly patients by Slovak physicians. Pharmacoepidemiol Drug Saf 2006; 15: 829-34.• Wawruch M, Zikavska M, Wsolova L, Kuzelova M, Tisonova J, Gajdosik J, Urbanek K, Kristova V. Polypharmacy in elderly

hospitalised patients in Slovakia. Pharm World Sci 2008; 30: 235-42.• Wawruch M, Fialova D, Zikavska M, Wsolova L, Jezova D, Kuzelova M, Liskova S, Krajcik S. Factors influencing the use of

potentially inappropriate medication in older patients in Slovakia. J Clin Pharm Ther 2008; 33: 381-92.• Wawruch M, Zikavska M, Wsolova L, Kuzelova M, Kahayova K, Strateny K, Kristova V. Adverse drug reactions related to

hospital admission in Slovak elderly patients. Arch Gerontol Geriatr 2009; 48: 186-90.• Wawruch M, Dukat A, Murin J, Wsolova L, Kuzelova M, Macugova A, Wimmer G Jr, Shah R. The effect of selected patient‘s

characteristics on the choice of antihypertensive medication in the elderly in Slovakia. Pharmacoepidemiol Drug Saf 2009; 18: 1199-205.

• Wawruch M, Macugova A, Kostkova L, Luha J, Dukat A, Murin J, Drobna V, Wilton L, Kuzelova M. The use of medications with anticholinergic properties and risk factors for their use in hospitalised elderly patients. Pharmacoepidemiol Drug Saf 2012; 21: 170-6.

• Wawruch M, Kuzelova M, Foltanova T, Ondriasova E, Luha J, Dukat A, Murin J, Shah R. Characteristics of elderly patients who consider over-the-counter medications as safe. Int J Clin Pharm 2013; 35: 121-8.

• Wawruch M, Slezakova V, Murin J, Luha J, Bozik M, Leitmann T, Kuzelova M, Shah R. Influence of hospitalisation on the use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in elderly hypertensive patients. Aging Clin Exp Res 2014; 26: 307-14.

• Böhmdorfer B, Rohleder S, Wawruch M, van der Cammen TJ, Frühwald T, Jagsch C, Janowitz SM, Nagano M, Petrovic M, Sommeregger U, Iglseder B. DEL-FINE: a new tool for assessing the delirogenic properties of drugs of relevance for European pharmacotherapy. Z Gerontol Geriatr 2016; 49: 416-22.

• Wawruch M, Zatko D, Wimmer G Jr, Luha J, Kuzelova L, Kukumberg P, Murin J, Hloska A, Tesar T, Kallay Z, Shah R. Factors Influencing Non-Persistence with Antiplatelet Medications in Elderly Patients After Ischaemic Stroke. Drugs Aging 2016; 33: 365-73.

• Wawruch M, Zatko D, Wimmer G Jr, Luha J, Hricak V Jr, Murin J, Kukumberg P, Tesar T, Hloska A, Shah R. Patient-related characteristics associated with non-persistence with statin therapy in elderly patients following an ischemic stroke. Pharmacoepidemiol Drug Saf 2017; 26: 201-7.

• Wawruch M, Zatko D, Wimmer G Jr, Luha J, Wimmerova S, Kukumberg P, Murin J, Hloska A, Tesar T, Shah R. Non-persistence with antiplatelet therapy in elderly patients after a transient ischemic attack. Aging Clin Exp Res 2017.

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H. Drugs for hypertension therapy

InvestigatorsProf. Pavel Babál, MD, PhD ([email protected])

Grants and Funding (in the last 10 years)• VEGA 2/0021/15: New molecular mechanisms of cardiovascular system damage by ionization radiation and

possibility of its targeted pharmacological prevention (2015 -2017)• APVV-51-017905: Molecular mechanisms responsible for effect of new drugs affecting oxidative stress -

important etiopathogenetic factor of multiple diseases (2008 -2009)

• VEGA 2/7064/7: Long-term administration of low dose of L-NAME: possibility for improvement of vessel wall function in borderline hypertension (2007)

• VEGA 2/4156/24: Interaction between stress and genetic factors in etiology of hypertension and behavioral alterations: the role of nitric oxide (2004 - 2006)

• VEGA 1/1171/04: Protective effect of polygenole compounds against endothelial damage (2004 - 2005)

Selected publications• Babál P, Kristová V, Cerná A, Janega P, Pechánová O, Danihel L, Andriantsitohaina R. Red wine polyphenols prevent

endothelial damage induced by CCl4 administration.Physiol Res 2006; 55: 245-51.• Bernátová I, Babál P, Grubbs RD, Morris M. Acetylcholinesterase inhibition affects cardiovascular structure in mice. Physiol

Res 2006;55: S89-97.• Bernátová I, Kopincová J, Púzserová A, Janega P, Babál P. Chronic low-dose L-NAME treatment increases nitric oxide

production and vasorelaxation in normotensive rats. Physiol Res 2007; 56: S17-24.• Hlavackova L, Janega P, Cerna A, Pechanova O, Andriantsitohaina R, Babal P. Red wine polyphenols affect the collagen

composition in the aorta after oxidative damage induced by chronic administration of CCl(4). Physiol Res 2009; 58: 337-44.• Hlavačková L, Vranková S, Janega P, Pecháňová O, Babál P. The effect of indapamide on development of myocardial

hypertrophy and fibrosis in L-NAME-induced hypertension in rat. Physiol Res 2011; 60: 845-52.• Hlavačková L, Janegová A, Uličná O, Janega P, Cerná A, Babál P. Spice up the hypertension diet - curcumin and piperine

prevent remodeling of aorta in experimental L-NAME induced hypertension. Nutr Metab (Lond) 2011; 8: 72.• Janega P, Kojsová S, Jendeková L, Babál P, Pechánová O. Indapamide-induced prevention of myocardial fibrosis in spontaneous

hypertension rats is not nitric oxide-related. Physiol Res 2007; 56: 825-8.• Mézešová L, Vlkovičová J, Kaločayová B, Jendruchová V, Barančík M, Fülöp M, Slezák J, Babál P, Janega P, Vrbjar N. Effects of

γ-irradiation on Na,K-ATPase in cardiac sarcolemma. Mol Cell Biochem 2014; 388: 241-7.• Paulis L, Vazan R, Simko F, Pechánová O, Styk J, Babál P, Janega P. Morphological alterations and NO-synthase expression in

the heart after continuous light exposure of rats. Physiol Res 2007; 56: S71-6.• Pechánová O, Rezzani R, Babál P, Bernátová I, Andriantsitohaina R. Beneficial effects of Provinols: cardiovascular system and

kidney. Physiol Res 2006; 55: S17-30.• Remková A, Halcín A, Stenová E, Babál P, Kasperová V, Vranovský A. Acute vasculitis as a first manifestation of hairy cell

leukemia. Eur J Intern Med 2007; 18: 238-40.• Strilić B, Eglinger J, Krieg M, Zeeb M, Axnick J, Babál P, Müller DJ, Lammert E. Electrostatic cell-surface repulsion initiates

lumen formation in developing blood vessels. Curr Biol 2010; 20: 2003-9.• Cačányiová S, Pecháňová O, Babál P, Cerná A, Janega P, Andriantsitohaina R. Red wine polyphenols correct vascular function

injured by chronic carbon tetrachloride intoxication. Gen Physiol Biophys 2011; 30: 207-13.

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ONCOLOGICAL DISEASES

Oncological Diseases

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ONCOLOGICAL DISEASES 46 |

Research area Topic Specification

Experimental and human tumors

Mammary carcinoma

Circulating tumor cells (CTC)

Prognostic and predictive significance CTC

Tumor microenvironment and CTC

CTC and coagulation, CTC and immune system

Functional breast MRI Role of biomarkers in prediction of neoadjuvant chemotherapy response

Urologic malignity Testicular cancer

Treatment of advanced stages, relapses, and refractory diseases

Identification of biomarkers associated with resistance and late toxicity

Late toxicity in the treatment of TGCTs, quality of life

Development of experimental animal model of TGCTs

Cultivation and characterization of TGCT from cell lines

Optimization of therapy and follow-up patients with TGCT in I. clinical stage

Hormonal substitution therapy by testosterone and defects of bone density in patients with TGCT

Secondary malignity after therapy of testicular tumors

Other tumors Tumors of head and neck

Functional consequences of therapy of head and neck tumorsImmunological and immunogenetic aspects of tumors and other lesion of head and neck.The role of HMGB1, TREM-1, and TREM-2 molecules and cytokines.Salivary and other molecular markers of head and neck tumors

Diagnostic and therapy

Nuclear medicine PET/CT Innovative clinical applications of diagnostic radiopharmaceuticals

Late adverse effects Late toxicity of anti-cancer therapy

Monitoring of late toxicity in pediatric and TGCTs patients

Probiotics Probiotics as adjuvant to anti-cancer therapy

Safety of probiotics in oncological patients

Prevention of irinotekan-induced diarrhea

Prevention of chemotherapy toxicity and potentiation of its efficiency

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Oncological research if currently focused on investigation of etiopathogenesis of mammary, urological, and other malignancies. Outstanding findings were obtained in the research focused on the role of circulation tumor cells.

Principal investigatorsAssoc. Prof. Jozef Mardiak, MD, PhDProf. Pavel Babál, MD, PhDDr. h. c. Prof. Ján Breza, MD, DScAssoc. Prof. Soňa Balogová, MD, PhDProf. Ľudovít Danihel, MD, PhDProf. Štefan Durdík, MD, PhDProf. Michal Mego, MD, PhDProf. Beáta Mladosievičová, MD, PhDProf. Dalibor Ondruš, MD, DScProf. Vanda Repiská, RNDr, PhDProf. Juraj Šteňo, MD, DSc

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A1. Mammary carcinoma

InvestigatorsProf. Michal Mego, MD, PhD ([email protected])Assoc. Prof. Jozef Mardiak, MD, PhDProf. Pavel Babál, MD, PhDAssoc. Prof. Soňa Balogová, MD, PhDProf. Ľudovít Danihel, MD, PhDProf. Štefan Durdík, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0044/15: Identification of factors participating on release and migration of circulating tumor cells in

mammary carcinoma (2016-2018)• VEGA 1/0724/11: Circulating tumor cells and epithelial-mesenchymal transition (2012-2014)• APVV-14-0327: Identification of new biomarkers and alternative approaches for analysis of tumor DNA

utilizable in diagnostics and prognostics of mammary carcinoma (2015-2018)

Plans for future research• Genotyping of tumors in relationship with circulating tumor cells• Evaluation of predictive and prognostic value new subpopulation of circulating tumor cells with epithelial-

mesenchymal transition

Devices and methods• Standard equipment of laboratory• Laminar box

Selected publications• Bystricky B, Reuben JM, Mego M. Circulating tumor cells and coagulation-Minireview. Crit Rev Oncol Hematol 2017; 114:33-42.• Bystricky B, Cierna Z, Sieberova G, Janega P, Karaba M, Minarik G, Benca J, Sedlackova T, Jurisova S, Gronesova P, Pindak D,

Macuch J, Mardiak J, Mego M. Relationship Between Circulating Tumor Cells and Annexin A2 in Early Breast Cancer Patients. Anticancer Res 2017; 37: 2727-34.

• Bystricky B, Jurisova S, Karaba M, Minarik G, Benca J, Sedlácková T, Tothova L, Vlkova B, Cierna Z, Janega P, Manasova D, Gronesova P, Pindak D, Mardiak J, Celec P, Mego M. Relationship Between Circulating Tumor Cells and Tissue Plasminogen Activator in Patients with Early Breast Cancer. Anticancer Res 2017; 37: 1787-91.

• Mego M, Gao H, Cohen EN, Anfossi S, Giordano A, Tin S, Fouad TM, De Giorgi U, Giuliano M, Woodward WA, Alvarez RH, Valero V, Ueno NT, Hortobagyi GN, Cristofanilli M, Reuben JM. Circulating tumor cells (CTCs) are associated with abnormalities in peripheral blood dendritic cells in patients with inflammatory breast cancer. Oncotarget 2016.

• Mego M, Gao H, Cohen EN, Anfossi S, Giordano A, Sanda T, Fouad TM, De Giorgi U, Giuliano M, Woodward WA, Alvarez RH, Valero V, Ueno NT, Hortobagyi GN, Cristofanilli M, Reuben JM. Circulating tumor cells (CTC) are associated with defects in adaptive immunity in patients with inflammatory breast cancer. J Cancer 2016; 7: 1095-104.

• Smolkova B, Mego M, Horvathova Kajabova V, Cierna Z, Danihel L, Sedlackova T, Minarik G, Zmetakova I, Krivulcik T, Gronesova P, Karaba M, Benca J, Pindak D, Mardiak J, Reuben JM, Fridrichova I. Expression of SOCS1 and CXCL12 proteins in primary breast cancer are associated with presence of circulating tumor cells in peripheral blood. Transl Oncol 2016; 9: 184-90.

• Mego M, Cholujova D, Minarik G, Sedlackova T, Gronesova P, Karaba M, Benca J, Cingelova S, Cierna Z, Manasova D, Pindak D, Sufliarsky J, Cristofanilli M, Reuben JM, Mardiak J. CXCR4-SDF-1 interaction potentially mediates trafficking of circulating tumor cells in primary breast cancer. BMC Cancer 2016; 16: 127.

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• Mego M, Cierna Z, Janega P, Karaba M, Minarik G, Benca J, Sedlácková T, Sieberova G, Gronesova P, Manasova D, Pindak D, Sufliarsky J, Danihel L, Reuben JM, Mardiak J. Relationship between circulating tumor cells and epithelial to mesenchymal transition in early breast cancer. BMC Cancer 2015; 15: 533.

• Mego M, Karaba M, Minarik G, Benca J, Sedlácková T, Tothova L, Vlkova B, Cierna Z, Janega P, Luha J, Gronesova P, Pindak D, Fridrichova I, Celec P, Reuben JM, Cristofanilli M, Mardiak J. Relationship between circulating tumor cells, blood coagulation, and urokinase-plasminogen-activator system in early breast cancer patients. Breast J 2015; 21: 155-60.

• Mego M, Giordano A, De Giorgi U, Masuda H, Hsu L, Giuliano M, Fouad TM, Dawood S, Ueno NT, Valero V, Andreopoulou E, Alvarez RH, Woodward WA, Hortobagyi GN, Cristofanilli M, Reuben JM. Circulating tumor cells in newly diagnosed inflammatory breast cancer. Breast Cancer Res 2015; 17: 2.

• Fridrichova I, Smolkova B, Kajabova V, Zmetakova I, Krivulcik T, Mego M, Cierna Z, Karaba M, Benca J, Pindak D, Bohac M, Repiska V, Danihel L. CXCL12 and ADAM23 hypermethylation are associated with advanced breast cancers. Transl Res 2015; 165: 717-30.

• Mego M, Zuo Z, Gao H, Cohen EN, Giordano A, Tin S, Anfossi S, Jackson S, Woodward W, Ueno NT, Valero V, Alvarez RH, Hortobagyi GN, Khoury JD, Cristofanilli M, Reuben JM. Circulating tumour cells are linked to plasma D-dimer levels in patients with metastatic breast cancer. Thromb Haemost 2015; 113: 593-8.

• Giuliano M, Giordano A, Jackson S, De Giorgi U, Mego M, Cohen EN, Gao H, Anfossi S, Handy BC, Ueno NT, Alvarez RH, De Placido S, Valero V, Hortobagyi GN, Reuben JM, Cristofanilli M. Circulating tumor cells as early predictors of metastatic spread in breast cancer patients with limited metastatic dissemination. Breast Cancer Res 2014; 16: 440.

• Cierna Z, Mego M, Janega P, Karaba M, Minarik G, Benca J, Sedlácková T, Cingelova S, Gronesova P, Manasova D, Pindak D, Sufliarsky J, Danihel L, Reuben JM, Mardiak J. Matrix metalloproteinase 1 and circulating tumor cells in early breast cancer. BMC Cancer 2014; 14: 472.

• Mego M, Gao H, Lee BN, Cohen EN, Tin S, Giordano A, Wu Q, Liu P, Nieto Y, Champlin RE, Hortobagyi GN, Cristofanilli M, Ueno NT, Reuben JM. Prognostic Value of EMT-Circulating Tumor Cells in Metastatic Breast Cancer Patients Undergoing High-Dose Chemotherapy with Autologous Hematopoietic Stem Cell Transplantation. J Cancer 2012; 3: 369-80.

• Mego M, Mani SA, Lee BN, Li C, Evans KW, Cohen EN, Gao H, Jackson SA, Giordano A, Hortobagyi GN, Cristofanilli M, Lucci A, Reuben JM. Expression of epithelial-mesenchymal transition-inducing transcription factors in primary breast cancer: The effect of neoadjuvant therapy. Int J Cancer 2012; 30: 808-16.

• Mego M, Mani SA, Cristofanilli M. Molecular mechanisms of metastasis in breast cancer--clinical applications. Nat Rev Clin Oncol 2010; 7: 693-701.

• Mego M, De Giorgi U, Dawood S, Wang X, Valero V, Andreopoulou E, Handy B, Ueno NT, Reuben JM, Cristofanilli M. Characterization of metastatic breast cancer patients with nondetectable circulating tumor cells. Int J Cancer 2011; 129: 417-23.

• Mego M, De Giorgi U, Broglio K, Dawood S, Valero V, Andreopoulou E, Handy B, Reuben JM, Cristofanilli M. Circulating tumour cells are associated with increased risk of venous thromboembolism in metastatic breast cancer patients. Br J Cancer 2009; 101: 1813-6.

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A2. Mammary carcinoma

InvestigatorsAssoc. Prof. Viera Lehotska, MD, PhD ([email protected])Lucia Vanovcanova, MD, PhDProf. Stanislav Spanik, MD, PhDProf. Stefan Durdik, MD, PhD, MHA

Grants and Funding (in the last 10 years)• APVV 0297/10: Early detection of prostate cancer with 3T MRI (2010-2013)

Plans for future research• Identification of early predictive biomarkers in monitoring of response to neoadjuvant chemotherapy• Identification of risk patient population non-responding to first- line chemotherapy in breast cancer treatment

Devices and methods• 3T MR device• Stereotactic and MR navigated vacuum-assisted biopsy (VAB)• Stereotactic and US navigated breast lesion excison system (BLES)• Tumor marking set

Selected publications• Lehotska V, Rauova K, Vanovcanova L. MR-mammography - impact on disease extent determination and surgical treatment of

invasive ductal and lobular breast cancers. Neoplasma 2015; 62: 269-77.• Vanovcanova L, Lehotska V, Rauova K. Digital mammography - a new trends in breast carcinoma diagnostics. Bratisl Lek Listy

2010; 111: 510-3.• Lehotska V, Tothova L, Valkovic L. The role of dynamic contrast-enhanced MRI in differentiation of local recurrence and

residual soft-tissue tumor versus post-treatment changes. Bratisl Lek Listy 2013; 114: 88-92.• Tothova L, Rauova K, Valkovic L, Vanovcanova L, Lehotska V. Stereotactic vacuum-assisted breast biopsy: our experience and

comparison with stereotactic automated needle biopsy. Bratisl Lek Listy 2013; 114: 71-7.• Spanik S, Spanikova B. Bone mineral density in early breast cancer patients. Bratisl Lek Listy 2010; 111: 27-32.• Sevcikova K, Vertakova-Krakovska B, Spanik S. Neoadjuvant treatment in patients with HER2-positive breast cancer. ISRN

Oncol 2013; 2013: 362467.• Ondrusova D, Muzik J, Durdik S, Ondrus D. Long-term trends in the development of the epidemiology of breast cancer in the

Slovak and Czech Republic with reference to applied screening and international comparisons. Neoplasma 2012; 59: 70-8.

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B. Testicular cancer

InvestigatorsAssoc. Prof. Jozef Mardiak, MD, PhD ([email protected])Prof. Michal Mego, MD, PhDProf. Pavel Babál, MD, PhDDr. h. c. prof. Ján Breza, MD, DScProf. Beáta Mladosievičová, MD, PhDProf. Dalibor Ondruš, MD, DScMichal Chovanec, MD, PhDViera Miskovska, MD, PhD

Grants and Funding (in the last 10 years)• APVV-15-0086: Identification of biomarkers associated with late toxicity of chemotherapy in germinative tumors

of testis (2016-2018)• APVV-0016-11: Identification of biomarkers associated with resistance on chemotherapy in testicular tumors

from germinative cells (TGCTs) (2012-2015)• MZ - 2007/30-NOU-01: Complex program of the care for patients with germinative tumors (2008-2010)

Plans for future research• Treatment of advanced stages• Treatment of relapses and refractory diseases• Identification of biomarkers associated with resistance• Identification of biomarkers associated with late toxicity• Late toxicity in the treatment of TGCTs, quality of life• Development of experimental animal model of TGCTs• Cultivation and characterization of TGCT from cell lines

Devices and methods• Equipment in Department of clinical studies• Equipment of Unit of translational research at Faculty of Medicine in Bratislava and National Institute of Cancer

Selected publications• Mego M, Svetlovska D, Miskovska V, Obertova J, Palacka P, Rajec J, Sycova-Mila Z, Chovanec M, Rejlekova K, Zuzák P, Ondrus

D, Spanik S, Reckova M, Mardiak J. Phase II study of everolimus in refractory testicular germ cell tumors. Urol Oncol 2016; 34: 122.e17-22.

• Cierna Z, Mego M, Miskovska V, Machalekova K, Chovanec M, Svetlovska D, Hainova K, Rejlekova K, Macak D, Spanik S, Ondrus D, Kajo K, Mardiak J, Babal P. Prognostic value of programmed-death-1 receptor (PD-1) and its ligand 1 (PD-L1) in testicular germ cell tumors. Ann Oncol 2016; 27: 300-5.

• Chovanec M, Oravcova I, Demitrovicova L, Mego M, Mardiak J. Malignant transformation of teratoma to adenocarcinoma with complete remission with all-trans retinoic acid-based treatment and surgery. Clin Genitourin Cancer 2016; 14: e131-3.

• Mego M, Cierna Z, Svetlovska D, Macak D, Machalekova K, Miskovska V, Chovanec M, Usakova V, Obertova J, Babal P, Mardiak J. PARP expression in germ cell tumours. J Clin Pathol 2013; 66: 607-12.

• Reckova M, Mego M, Sycova-Mila Z, Obertova J, Svetlovska D, Mardiak J. Sunitinib in patients with cisplatin-refractory germ cell tumors. Onkologie 2012; 35: 455-6.

• Mego M, Rejlekova K, Reckova M, Sycova-Mila Z, Obertova J, Rajec J, Mardiak J. Kinetics of tumor marker decline as an independent prognostic factor in patients with relapsed metastatic germ-cell tumors. Neoplasma 2009; 56: 398-403.

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• Mego M, Recková M, Sycova-Mila Z, Obertova J, Brozmanova K, Salek T, Mardiak J. Bevacizumab in a growing teratoma syndrome. Case report. Ann Oncol 2007; 18: 962-3.

• Mego M. Cancer stem cell in relapsed testicular germ cell cancer: embryonic or somatic? Int J Androl 2006; 29: 627. • Maťoška J, Ondruš D, Horňák M. Metastatic spermatocytic seminoma : A case report with light microscopic, ultrastructural

and immunohistochemical findings Cancer 1988; 62: 1197-201.• Ondrus D, Hornak M, Vrabec J. Low sperm counts as a prognostic factor of progression in stage I non-seminomatous germ cell

testicular tumours. Br J Urol 1988; 62: 82-4.• Ondrus D, Hornak M. Orchiectomy alone for clinical stage I nonseminomatous germ cell tumors of the testis (NSGCTT): a

minimum follow-up period of 5 years. Tumori 1994; 80: 362-4.• Ondrus D, Ondrusova M, Dusek L. Recent patterns in testicular cancer incidence, mortality and survival in the Slovak

Republic with reference to international comparisons. Cancer Invest 2012; 30: 545-51.• Ondrus D, Ondrusova M, Friedova L. Second malignancies in long-term testicular cancer survivors. Int Urol Nephrol 2014; 46:

749-56.• Oldenburg J, Aparicio J, Beyer J, Cohn-Cedermark G, Cullen M, Gilligan T, De Giorgi U, De Santis M, de Wit R, Fosså SD,

Germà-Lluch JR, Gillessen S, Haugnes HS, Honecker F, Horwich A, Lorch A, Ondruš D, Rosti G, Stephenson AJ, Tandstad T; On behalf of: SWENOTECA (Swedish Norwegian Testicular Cancer group), the Italian Germ Cell Cancer Group (IGG), Spanish Germ Cell Cancer Group (SGCCG). Personalizing, not patronizing: the case for patient autonomy by unbiased presentation of management options in stage I testicular cancer. Ann Oncol 2015; 26: 833-8.

• Ondrusova M, Ondrus D, Miskovska V, Kajo K, Szoldova K, Usakova V, Stastna V. Management of clinical stage I testicular seminoma: active surveillance versus adjuvant chemotherapy. Int Urol Nephrol 2015; 47: 1143-7.

• Ondrus D, Hornák M, Breza J, Mat’oska J, Schnorrer M, Belan V, Kausitz J. Delayed orchiectomy after chemotherapy in patients with advanced testicular cancer. Int Urol Nephrol 2001; 32: 665-7.

• Ondrus D, Hornák M, Mat’oska J. Bilateral testicular germ-cell tumors--a single centre long-term experience. Int Urol Nephrol 2001; 33: 521-4.

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C. Tumors of head and neck

InvestigatorsPatrik Štefanička, MD, PhD ([email protected])Miroslav Tedla, MD, PhDProf. Milan Profant, MD, PhDLukáš Varga, MD, RNDr, PhDMatej Babinec, MDMagda Suchánková, MD, PhDAssoc. Prof. Mária Bucová, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/4315/07: Diagnostic and rehabilitation of altered swallowing (2007-2009)

Devices and methods• Molecular-genetic analysis at IMBM Faculty of Medicine, BMC SAV• ELISA - analysis of new inflammatory markers HMGB1, TREM-1, cytokines, chemokines and TREM-2

Selected publications• Bucová M, Suchánková, M, Tibenská, E, Tedlová, E, Demian, J, Majer, I, Novosadová H, Tedla, M. TREM-2 receptor expression

increase with 25(OH)D vitamin serum levels in patients with pulmonary sarcoidosis. Mediators Inflamm 2015; 2015: 181986.• Suchankova, M, Paulovicova, E, Paulovicova, L, Majer, I, Tedlova, E, Novosadova, H, Tibenska, E, Tedla, M, Bucova, M.

Increased antifungal antibodies in bronchoalveolar lavage fluid and serum in pulmonary sarcoidosis. Scand J Immunol 2015; 81: 259-64.

• Tedla M,Valach M, Carrau R L, Varga I, Profant M, Mráz P, Weismann P. Impact of radiotherapy on laryngeal intrinsic muscles. Eur Arch Otorhinolaryngol 2012; 269: 953-8

• Suchankova M, Bucova M, Tibenska E, Tedlova E, Demian J, Majer I, Novosadova H, Tedla M, Paulovicova E, Kantarova D. Triggering receptor expressed on myeloid cells-1 and 2 in bronchoalveolar lavage fluid in pulmonary sarcoidosis. Respirology 2013; 18: 455-62.

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D. Innovative clinical applications of diagnostic radiopharmaceuticals

InvestigatorsAssoc. Prof. Soňa Balogová, MD, PhD ([email protected])

Grants and Funding (in the last 10 years)• VEGA 1/0196/16: Non-invasive in-vivo prediction of therapeutic response to inhibitors of angiogenesis using

68Ga-RGD PET/CT (2016-2018)

Plans for future research• Evaluation of innovative clinical applications of diagnostic radiopharmaceuticals for PET in oncology

Selected publications• Cassou-Mounat T, Balogova S, Nataf V, Calzada M, Huchet V, Kerrou K, Devaux JY, Mohty M, Talbot JN, Garderet L.

18F-fluorocholine versus 18F-fluorodeoxyglucose for PET/CT imaging in patients with suspected relapsing or progressive multiple myeloma: a pilot study. Eur J Nucl Med Mol Imaging 2016; 43: 1995-2004.

• Jorgov L, Montravers F, Balogova S, Ragu C, Pacquement H, Leblanc T, Abbou S, Ducou-Lepointe H, Landman-Parker J, Talbot JN. Paediatric and adolescent Hodgkin lymphoma: information derived from diffuse organ uptake of 18 F-fluorodeoxyglucose on pre-treatment and on interim PET/CT. Eur J Nucl Med Mol Imaging 2016; 43: 1220-30.

• Talbot JN, Gligorov J, Nataf V, Montravers F, Huchet V, Michaud L, Ohnona J, Balogova S, Cussenot O, Daraï E, Lotz JP, Kerrou K. Current applications of PET imaging of sex hormone receptors with a fluorinated analogue of estradiol or of testosterone. Q J Nucl Med Mol Imaging 2015; 59: 4-17.

• Balogova S, Zakoun JB, Michaud L, Khalil A, Tassart M, Esteso A, Kerrou K, Huchet V, Carette MF, Lotz JP, Talbot JN. Whole-body 18F-fluorocholine (FCH) PET/CT and MRI of the spine for monitoring patients with castration-resistant prostate cancer metastatic to bone: a pilot study. Clin Nucl Med 2014; 39: 951-9.

• Balogova S, Talbot JN, Nataf V, Michaud L, Huchet V, Kerrou K, Montravers F. 18F-fluorodihydroxyphenylalanine vs other radiopharmaceuticals for imaging neuroendocrine tumours according to their type. Eur J Nucl Med Mol Imaging 2013; 40: 943-66.

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E. Late toxicity

InvestigatorsAssoc. Prof. Jozef Mardiak, MD, PhD ([email protected])Prof. Pavel Babál, MD, PhDProf. Michal Mego, MD, PhDDr. h. c. Prof. Ján Breza, MD, DScProf. Beáta Mladosievičová, MD, PhDProf. Dalibor Ondruš, MD, DScMichal Chovanec, MD, PhDViera Miskovska, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0906/14: Biomarkers and genetic predictors of toxicity of anti-cancer therapy (2014-2016)• MZ SR 2007/42-UK-18: Complex diagnostic and monitoring of consequences of anti-cancer therapy with focus

on genetic aspects of cytostatics toxicity - PharmakoGen (2007-2010)

Plans for future research• Monitoring of late toxicity in patients with testicular cancer from germinative cells

Selected publications• Urbanová D, Urban L, Carter A, Maasova D, Mladosievicova B. Cardiac troponins-biochemical markers of cardiac toxicity

after cytostatic therapy. Neoplasma 2006; 53: 183-90.• Roziakova L, Mladosievicova B. Endocrine late effects after hematopoietic stem cell transplantation. Oncol Res 2010; 18: 607-15.• Mladosievicova B, Urbanova D, Radvanska E, Slavkovsky P, Simkova I. Role of NTproBNP in detection of myocardial damage

in childhood leukemia survivors treated with and without anthracyclines. J Exp Clin Cancer Res 2012; 31:86.• Roziakova L, Mistrik M, Batorova A, Kruzliak P, Bojtarova E, Dubrava J, Gergel J, Mladosievicova B. Can we predict clinical

cardiotoxicity with cardiac biomarkers in patients after haematopoietic stem cell transplantation? Cardiovasc Toxicol 2015; 15: 210-6.

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F. Probiotics

InvestigatorsProf. Michal Mego, MD, PhD ([email protected])Assoc. Prof. Jozef Mardiak, MD, PhD Assoc. Prof. Luboš Drgoňa, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0722/11: Prevention of irinotekan-induced diarrhea by probiotics (2011-2013)• APVV-0646-11: The role of bacteria in process of carcinogenesis and syndrome of acquired immunodeficiency

(2011-2013)

Plans for future research• Prevention of irinotekan-induced diarrhea by probiotics. Clinical study phase III

Devices and methods• Equipment of Unit of translational research at Faculty of Medicine in Bratislava and National Institute of Cancer

Selected publications• Ciernikova S, Mego M, Semanova M, Wachsmannova L, Adamcikova Z, Stevurkova V, Drgona L, Zajac V. Probiotic survey in

cancer patients treated in the outpatientdepartment in a comprehensive cancer center. Integr Cancer Ther 2017; 16: 188-95.• Mego M, Chovanec J, Vochyanova-Andrezalova I, Konkolovsky P, Mikulova M, Reckova M, Miskovska V, Bystricky B, Beniak

J, Medvecova L, Lagin A, Svetlovska D, Spanik S, Zajac V, Mardiak J, Drgona L. Prevention of irinotecan induced diarrhea by probiotics: A randomized double blind, placebo controlled pilot study. Complement Ther Med 2015; 23: 356-62.

• Ciernikova S, Mego M, Hainova K, Adamcikova Z, Stevurkova V, Zajac V. Modification of microflora imbalance: future directions for prevention and treatment of colorectal cancer? Neoplasma 2015; 62: 345-52.

• Mego M, Holec V, Drgona L, Hainova K, Ciernikova S, Zajac V. Probiotic bacteria in cancer patients undergoing chemotherapy and radiation therapy. Complement Ther Med 2013; 21: 712-23.

• Mego M, Májek J, Konceková R, Ebringer L, Cierniková S, Raovác M, Trupl J, Slezák P, Zajac V. Intramucosal bacteria in colon cancer and their elimination by probiotic strain Enterococcus faecium M-74 with organic selenium.Folia Microbiol (Praha) 2005; 50: 443-7.

• Mego M, Koncekova R, Mikuskova E, Drgona L, Ebringer L, Demitrovicova L, Nemova I, Trupl J, Mardiak J, Koza I, Zajac V. Prevention of febrile neutropeniain cancer patients by probiotic strain Enterococcus faecium M-74. Phase II study. Support Care Cancer 2006; 14: 285-90.

• Mego M, Ebringer L, Drgona L, Mardiak J, Trupl J, Greksak R, Nemova I, Oravcova E, Zajac V, Koza I. Prevention of febrile neutropenia in cancer patients by probiotic strain Enterococcus faecium M-74. Pilot study phase I. Neoplasma 2005; 52: 159-64.

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METABOLIC, ENDOCRINE, AND INFLAMMATORY DISEASES

Metabolic, Endocrine, and Inflammatory Diseases

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Research area Topic Specification

Metabolic and endocrine diseases

Endocrinology

Diabetes mellitusDiabetes mellitus and diabetic foot syndrome

Monogenic disorders of insulin secretion and action

OsteoporosisMetabolism - osteologyInvestigation of pathophysiology, diagnostic and therapy of osteoporosis

Growth and Development

Short stature in children

Disorders of sexual development

General metabolism

Endocrine glands and endocrinopathies with symptoms in ORL area

Thyroidectomy and quality of lifePhysiology and molecular-genetic characteristics of brown fat tissue in manDNA diagnostics of rare diseases and syndromes associated with ORL diseases (alteration of hearing, malformation in ORL areas associated with endocinopathies and metabolic disturbances)

Metabolic syndrome Metabolic syndrome in children

Inborn errors of metabolism

Selective screening

Environmental factors Nutrition

Nutrition and nutritional status in populationEffect of selected environmental and psychosocial factors on health and development of children and adolescents

Immunology

Alterations of immunity and autoimmune disorders

Alterations of immunity

Autoimmunity: Rheumatoid arthritis, Sjögren‘s syndrome, systemic sclerosis, diabetes mellitus, Crohn disease

Inflammation in cardiovascular diseases

Inherited alterations of immunity, bronchial asthma

Rheumatoid arthritisStudy of combination of immunosuppressive therapy and modulation of redox balance of organism in animal models of rheumatoid arthritis

Inflammatory bowel diseases (IBD)

New therapeutic options in IBDMonitoring disease activity in IBDThe role of vitamin D in IBD

InfectionInfectious diseases Legionnaires´disease, Leptospirosis, Tularemia,

nosocomial infections

Sepsis Biomarkers of sepsis and SIRS

Morphology Histology of immune system

Development and evolution of lymphatic organs, focused on thymus

Microscopic structure and blood microcirculation of spleen

Other Varia

Orphan diseases Hereditary ciliopathies, RASopathies and tubulopathies

Extracellular DNA Role of extracellular DNA in physiological and pathological conditions

Kidney diseasesNovel biomarkers in chronic kidney disease: from kidney function to kidney damage & from animal model to human kidney

Bioenergetics Investigation of bioenergetic and anti-oxidative systems of organism in selected diseases

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Traditionally, research at Faculty of Medicine in Bratislava is focused on investigation of etiopathogeneis of diabetes mellitus, osteoporosis, thyroid diseases, rheumatoid arthritis, sepsis, and other immune diseases.

Principal investigatorsProf. Juraj Payer, MD, PhD, MPH, FRCPProf. Ľudmila Podracká, MD, PhDProf. László Kovács, MD, DScAssoc. Prof. Tibor Hlavatý, MD, PhDAssoc. Prof. Mária Bucová, MD, PhDAssoc. Prof. Peter Celec, MD, Dipl Eng, Dr Rer Nat, DSc, MPHAssoc. Prof. Katarína Šebeková, MD, DScProf. Mária Šimaljaková, MD, PhDProf. Ladislav Turecký, MD, PhD

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A1. Diabetes mellitus - diabetic foot

InvestigatorsAssoc. Prof. Ľudovít Gašpar, MD, PhD ([email protected])Prof. Andrej Dukát, MD, PhDProf. Stanislav Oravec, MD, PhDProf. Viera Štvrtinová, MD, PhDAssoc. Prof. Ján Lietava, MD, PhDMatej Bendžala, MD, PhDMartin Čaprnda, MD, PhDMarek Kučera, MD, PhDPeter Sabaka, MD, PhDDenisa Čelovská, MD, PhDAndrea Komorníková, MD

Projects realized in the last 10 years• Management of patient with diabetic foot syndrome• Diabetic foot - diagnostic and therapy• Transcutaneous oximetry in diagnostic of diabetic foot• Determination of amputation level by transcutaneous oximetry• Orthostatic hypotension in patients with diabetes mellitus• Effect of therapy by prostaglandin El on prognosis of patients with diabetic foot syndrome• Effect of hyperbaric oxygen therapy on lipoprotein sub-fractions in patients with diabetes mellitus• Differential diagnosis of ulceration on foot of diabetic patients

Plans for future research• Optimization of diagnosis and therapy of patients with diabetic foot syndrome• Association between insulin administration by insulin pump and prognosis of patients with diabetes mellitus• Resistant hypertension in patients with diabetes mellitus• Diabetes mellitus, dipping status and prognosis of patients• Incidence of mediocalcinosis in patients with diabetes mellitus a their prognosis

Devices and methods• Complex non-invasive cardiovascular diagnostics (Holter EKG, AMTK, ergometric investigation,

echocardiography, Laser-Doppler investigation of vessels, transcutaneous oximetry)• Analysis of spectrum and sub-fractions of lipids by method Lipoprint LDL and HDL• Spectral analysis of heart rate variability• Diagnosis of cardiovascular autonomic neuropathy• Determination of ankle-brachial index by automatic system

Selected publications• Balaz D, Komornikova A, Sabaka P, Bendzala M, Leichenbergova E, Leichenbergova K, Novy M, Gaspar L, Dukat A. Effect of

hyperbaric oxygen on lipoprotein subfractions in diabetic patients. Undersea Hyperb Med 2015; 42: 399-407.• Gaspar L, Kruzliak P, Komornikova A, Celecova Z, Krahulec B, Balaz D, Sabaka P, Caprnda M, Kucera M, Rodrigo L, Uehara Y,

Dukat A. Orthostatic hypotension in diabetic patients-10-year follow-up study. J Diabetes Complications 2016; 30: 67-71.

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• Balaz D, Komornikova A, Sabaka P, Leichenbergova E, Leichenbergova K, Novy M, Kralikova D, Gaspar L, Dukat A. Changes in vasomotion--effect of hyperbaric oxygen in patients with diabetes Type 2. Undersea Hyperb Med 2016; 43: 123-34.

• Pleskovič A, Letonja MŠ, Vujkovac AC, Nikolajević Starčević J, Gazdikova K, Caprnda M, Gaspar L, Kruzliak P, Petrovič D. C-reactive protein as a marker of progression of carotid atherosclerosis in subjects with type 2 diabetes mellitus. Vasa 2017; 46: 187-192.

• Kasko M, Gaspar L, Dukát A, Gavorník P, Oravec S. High-density lipoprotein profile in newly-diagnosed lower extremity artery disease in Slovak population without diabetes mellitus. Neuro Endocrinol Lett 2014; 35: 531-5.

• Strbova L, Krahulec B, Waczulikova I, Gaspar L, Ambrozy E, Bendzala M, Dukat A. Influence of infection on clinical picture of diabetic foot syndrome. Bratisl Lek Listy. 2011;112: 177-82.

• Buc M, Bucová M, Javor J, Krivosíkova M, Stuchlíkova M, Shawkatova I, Michalková D, Barák L, Jancová E, Petrek M. Associations between HLA class II alleles and type 1 diabetes mellitus in the Slovak population. Endocr Regul 2006; 40: 1-6.

• Javor J, Bucova M, Ferencik S, Grosse-Wilde H, Buc M. Single nucleotide polymorphisms of cytokine genes in the healthy Slovak population. Int J Immunogenet 2007; 34: 273-80.

• Javor J, Ferencik S, Bucova M, Stuchlikova M, Martinka E, Barak L, Strbova L, Grosse-Wilde H, Buc M. Polymorphisms in the genes encoding TGF-beta1, TNF-alpha, and IL-6 show association with type 1 diabetes mellitus in the Slovak population. Arch Immunol Ther Exp (Warsz) 2010; 58: 385-93.

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A2. Diabetes mellitus - monogenic disorders of insulin secretion and action

InvestigatorsAssoc. Prof. Juraj Staník, MD, PhD ([email protected])Ľubomír Barák, MD, PhDDaniela Staníková, MD, PhDDenisa Lobotková, MD, PhDLukáš Varga, MD, PhDKristína Podoláková, MD

Projects realized in the last 10 years• VEGA 2/0083/17: Whole-exome sequencing in patients with a suspicion on primary mitochondriopathies (2017-

2020)• APVV 0107-12: Molecular-genetic research with pharmacogenetic consequences in children with

hyperinsulinemic hypoglycemia (2013-2017)• APVV 0187-12: Identification of new genetic aspects of monogenic endocrinophaties by next generation

sequencing (2013-2017)• VEGA 2/0166/14: Prevalence and mutation spectrum of the most common forms of monogenic obesity (2013-

2016)• VEGA 2/0151/11: Prevalence of various types of diabetes type MODY in Slovakia (2010-2014)• APVV: 51-0142-05: DNA analysis of monogenic forms of diabetes mellitus in Slovakia (2006-2009)• MZ.2005/15-NEDU-01: Establisment of DNA diagnostics and screening of monogenic types of diabetes mellitus

in Slovakia (2006-2008)• ASFEU- structural founds of EU (ITMS: 26240220051): TRANSENDOGEN (Transfer of genetic knowledge of

endocrine research into clinical praxis (2010-2014)

Plans for future research• Optimization of diagnosis and therapy of patients with monogenic diabetes and congenital hyperinsulinism• Epidemiology of patients with monogenic diabetes and congenital hyperinsulinism• Association between insulin administration by insulin pump and prognosis of patients with diabetes mellitus• Pharmacogenetics of monogenic diabetes and congenital hyperinsulinism• Genetics of insulin resistance in children• Optimization of diagnosis and therapy of patients with mitochondrial diabetes

Devices and methods• Molecular-genetic analysis at Biomedical Research Center, Slovak Academy of Sciences• Clinical diagnostics and management in Children Diabetes Center at the Pediatric Department of Faculty of

Medicine in Bratislava

Selected publications• Stanikova D, Buzga M, Krumpolec P, Skopkova M, Surova M, Ukropcova B, Ticha L, Petrasova M, Gabcova D, Huckova M,

Piskorova L, Bozensky J, Mokan M, Ukropec J, Zavacka I, Klimes I, Stanik J, Gasperikova D. Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents. PLoS One. 2017; 12: e0177222.

• Löffler D, Behrendt S, Creemers JW, Klammt J, Aust G, Stanik J, Kiess W, Kovacs P, Körner A. Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism. Mol Metab 2016; 6: 295-305.

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• Stanik J, Skopkova M, Brennerova K, Danis D, Rosolankova M, Salingova A, Bzduch V, Klimes I, Gasperikova D. Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. Diabetes Res Clin Pract 2017; 126: 144-150.

• Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat 2017; 38: 409-25.

• Skopkova M, Ciljakova M, Havlicekova Z, Vojtkova J, Valentinova L, Danis D, Murgas D, Szepeova R, Stanik J, Banovcin P, Klimes I, Gasperikova D. Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa. Eur J Med Genet 2016; 59: 429-35.

• Stanikova D, Surova M, Buzga M, Skopkova M, Ticha L, Petrasova M, Huckova M, Gabcova-Balaziova D, Valentova L, Mokan M, Zavacka I, Stanik J, Klimes I, Gasperikova D. Age of obesity onset in MC4R mutation carriers. Endocr Regul 2015; 49: 137-40.

• Stanikova D, Surova M, Ticha L, Petrasova M, Virgova D, Huckova M, Skopkova M, Lobotkova D, Valentinova L, Mokan M, Stanik J, Klimes I, Gasperikova D. Melanocortin-4 receptor gene mutations in obese Slovak children. Physiol Res 2015; 64: 883-90.

• Stanik J, Dusatkova P, Cinek O, Valentinova L, Huckova M, Skopkova M, Dusatkova L, Stanikova D, Pura M, Klimes I, Lebl J, Gasperikova D, Pruhova S. De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia 2014; 57: 480-4.

• Thanabalasingham G, Huffman JE, Kattla JJ, Novokmet M, Rudan I, Gloyn AL, Hayward C, Adamczyk B, Reynolds RM, Muzinic A, Hassanali N, Pucic M, Bennett AJ, Essafi A, Polasek O, Mughal SA, Redzic I, Primorac D, Zgaga L, Kolcic I, Hansen T, Gasperikova D, Tjora E, Strachan MW, Nielsen T, Stanik J, Klimes I, Pedersen OB, Njølstad PR, Wild SH, Gyllensten U, Gornik O, Wilson JF, Hastie ND, Campbell H, McCarthy MI, Rudd PM, Owen KR, Lauc G, Wright AF. Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes 2013; 62: 1329-37.

• Masindova I, Varga L, Stanik J, Valentinova L, Profant M, Klimes I, Gasperikova D. Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies. Endocr Regul 2012; 46: 167-86.

• Stanik J, Kusekova M, Huckova M, Valentinova L, Masindova I, Stanikova D, Ferenczova J, Gasperikova D, Klimes I. Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report. Endocr Regul 2012; 46: 99-105.

• Valentínová L, Beer NL, Staník J, Tribble ND, van de Bunt M, Hučková M, Barrett A, Klimeš I, Gašperíková D, Gloyn AL. Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. PLoS One 2012; 7: e34541.

• Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gašperíková D, Szopa M, Tjora E, James TJ, Kokko P, Loiseleur F, Andersson E, Gaget S, Isomaa B, Nowak N, Raeder H, Stanik J, Njolstad PR, Malecki MT, Klimes I, Groop L, Pedersen O, Froguel P, McCarthy MI, Gloyn AL, Owen KR. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia 2011; 54: 2801-10.

• Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R. Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. Diabet Med 2010; 27: 631-5.

• Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL. Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. Diabetes 2009; 58: 2954-61.

• Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL. Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans. Diabetes 2009; 58: 1929-35.

• Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I. Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care 2008; 31: 1736-7.

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• Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group., Hattersley AT, Ellard S. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57: 1034-42.

• Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 2007; 92: 1276-82.

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B. Osteoporosis

InvestigatorsProf. Juraj Payer, MD, PhD, MPH, FRCP ([email protected])Assoc. Prof. Zdenko Killinger, MD, PhDPeter Jackuliak, MD, PhDMartin Kužma, MD, PhDAssoc. Prof. Tibor Hlavatý, MD, PhDAssoc. Prof. Tomáš Koller, MD, PhDAnna Krajčovičová, MD, PhDProf. Ľudmila Podracká, MD, PhDĽubica Tichá, MD, PhD

Projects realized in the last 10 years• VEGA 2/0029/16: Redox regulation of professional phagocytes in the blood and central nervous system:

Molecular mechanisms and functional significance (2016-2018)• VEGA 2/0010/13: Pharmacological regulation of phagocyte activity and apoptosis: study at cellular and

molecular level (2013 – 2015)• Center for Research on Serious Diseases and their Complications. Supported by the Operational Program

Research and Development co-funded by the European Union from the European Regional Development Fund, ITMS Code 26240120038 (2013-2015)

• LipidomicNet – 7th Framework Program, European Commission, Brussels, Belgium – Lipid droplets as dynamic organelles of fat deposition and release: translational research towards human disease

• Ministry of health scientific grant n.2005/1-DFNKE-01: Molecular aspects of teratogenic, metabolic and atherogenic effects of hyperhomocysteinemia on the fetus and child (2006-2008)

• VEGA 1/0613/17: Early diagnosis of osteoporosis in children and adolescents with mental anorexia (2017-2019)• Norwegian found SJK0017-GOL-00143-H-V2(1):The research of glucocorticoid influence on pediatric diseases –

children´s health improvement (2007-2010)• Effect of selected therapeutic approaches on bone parameters with regards to bone structure assessment• Secondary osteoporosis in rheumatoid arthritis – bone quality and the effect of biological treatment on bone• Impact of adult growth hormone deficiency and on bone mineral density, trabecular bone score, and effect of

vitamin D as cofactor in the treatment of growth hormone deficiency• Prediction models of clinical fractures in patients with postmenopausal osteopenia • The effect of glycemic compensation on bone - bone quality in diabetic patients• Prevalence of osteoporosis in patients with inflammatory bowel diseases and the effect of treatment on bone

parameters

Plans for future research• Effect of acromegaly on bone parameters and incidence of clinical and morphometric vertebral fractures• Chronic heart failure and incidence of clinical and morphometric vertebral fractures• Effect of hydrocortisone treatment on bone in patients with Addison disease• Association between hyperthyroidism, bone quality and novel bone turnover markers• Assessment of bone quality in adults with hypophosphatasia• Prevalence of fractures in patients with rheumatoid arthritis treated with biological therapy.• Extend existing epidemiological data of osteoporotic fractures in diabetic patients• Mutual influence of other factors of secondary osteoporosis on incidence of osteoporosis in diabetic patients• Non-invasive measurement of advanced glycation end-products (AGEs)

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• Metabolic consequences of bone disease in children• New potential biomarkers of bone metabolism• Aassessment of sarcopenia in selected groups with secondary osteoporosis

Devices and methods• Determination of biochemical markers of bone metabolism• Determination of vitamin D• Investigation of calcium-related and calcium non-related effects of vitamin D• Dual energy X-ray absorptiometry• Trabecular bone score, hip structure analysis, 3D-DXA• AGE reader for skin autofluorescence• Serum CX3CL1/Fractalkine, IL-1Ra, IL-8

Selected publications• Kužma M, Binkley N, Bednárová A, Killinger Z, Vaňuga P, Payer J. Trabecular bone score change differs with regard to 25(OH)

D levels in patients treated for adult-onset growth hormone deficiency. Endocr Pract 2016; 22: 951-8.• Kužma M, Kužmová Z, Zelinková Z, Killinger Z, Vaňuga P, Lazurová I, Tomková S, Payer J. Impact of the growth hormone

replacement on bone status in growth hormone deficient adults. Growth Horm IGF Res 2014; 24: 22-8.• Killinger Z, Kužma M, Sterančáková L, Payer J. Osteoarticular changes in acromegaly. Int J Endocrinol 2012; 2012: 839282.• Jackuliak P, Payer J. Osteoporosis, fractures, and diabetes. Int J Endocrinol 2014; 2014: 820615.• Payer J, Brázdilová K, Jackuliak P. Management of glucocorticoid-induced osteoporosis: prevalence, and emerging treatment

options. Drug Healthc Patient Saf 2010; 2: 49-59.• Baqi L, Payer J, Killinger Z, Sušienková K, Jackuliak P,Čierny D, Langer P. The level of TSH appeared favourable in maintaining

bone mineral density in postmenopausal women. Endocr Regul 2010; 44: 9-15.• Hlavaty T, Krajcovicova A, Payer J. Vitamin D therapy in inflammatory bowel diseases: who, in what form, and how much? J

Crohns Colitis 2015; 9: 198-209.• Miznerova E, Hlavaty T, Koller T, Toth J, Holociova K, Huorka M, Killinger Z, Payer J. The prevalence and risk factors for

osteoporosis in patients with inflammatory bowel disease. Bratisl Lek Listy 2013; 114: 439-45.• Krajcovicova A, Hlavaty T, Killinger Z, Miznerova E, Toth J, Letkovsky J,Nevidanska M, Cierny D, Koller T, Zelinkova Z,

Huorka M, Payer J. Combination therapy with an immunomodulator and anti-TNFα agent improves bone mineral density in IBD patients. J Crohns Colitis 2014; 8: 1693-701.

• Šebeková K, Somoza V, Jarčušková M, Heidland A, Podracká Ľ. Plasma advanced glycation end products are decreased obese children compared with lean controls. Int J Pediatr Obes 2009, 4:112-8.

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C. Short stature in children

InvestigatorsAssoc. Prof. Ľudmila Košťálová, MD, PhD ([email protected])Zuzana Pribilincová, MD, PhDEva Vitáriušová, MD PhDĽubica Tichá, MD, PhDKatarína Prochotská, MD, PhDZuzana Blusková, MD, PhD

Projects realized in the last 10 years• ECOS - Easypod Connect observational Study (2012-2016)• GeNeSIS - The genetic and endocrinology of Short Stature International Study (2006-2016)• KIGS - Kabi international growth hormone study (1992-2015)

Plans for future research• Growth hormone treatment in children with deficit of growth hormone - effect and complications• Growth hormone treatment in SGA born children - effect and complications• Growth hormone treatment in Turner syndrome and rasopathies - effect and complications• Growth hormone treatment children with disorder of sexual differentiation in mosaicism in karyotype - effect

and complications• Genetic causes of short stature (Geleophysic nanism, 3-M syndrome, Silver-Russell syndrome, Deficiency of

SHOX gene)• Onset of puberty in SGA born children

Devices and methods• Hormonal and metabolic profile• Body composition• Genetic assay• Evaluation of puberty• Evaluation of bone age

Selected publications• Cizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D. Rasopathies - dysmorphic

syndromes with short stature and risk of malignancy. Endocr Regul 2013; 47: 217-22.• Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá

A, Kovács L, Ilenčíková D. New mutations associated with Rasopathies in a Central European population and genotype-phenotype correlations. Ann Hum Genet 2016; 80: 50-62.

• Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. Eur J Hum Genet 2016; 24: 415-20.

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D. Disorders of sexual development

InvestigatorsZuzana Pribilincová, MD, PhD ([email protected])Assoc. Prof. Ľudmila Košťálová, MD, PhDProf. László Kovács, MD, DSc, MPHEva Vitáriušová, MD PhDKatarína Prochotská, MD, PhDPeter Bartoň, MDJozef Babala, MD, PhDZuzana Nižňanská, MD, PhDJudita Puškáčová, MD, PhD

Projects realized in the last 10 years• MESPE CAH study group, CEEPUS grant (1999-2002)• VEGA 1/0497/08: Risk factors of metabolic syndrome in population of patients with exogenous obesity, mutation

of melanocortin receptor 4 and classic form of congenital adrenal hyperplasia with 21 hydroxylase deficiency (2008-2012)

Plans for future research• Database of DSD in Slovakia• Genotype – phenotype correlations in DSD patients• EvaIuating risk of gonadal cancer in DSD patients• Role of Androstendione in evaluating treatment of CAH and other hyperandrogenic states• Blood pressure and insulin resistance in paediatric CAH patients• Surgical outcomes in DSD patients – novel approach

Devices and methods• Genotyping DSD populatin• Examination of metabolic status in CAH patients• Analysis of circadian rhytms of blood pressure in CAH patients• Immunohistochemistry in operated gonads in DSD patients, correlation with genotype

Selected publications• Kovács J, Votava F, Heinze G, Sólyom J, Lebl J, Pribilincová Z, Frisch H, Battelino T, Waldhauser F; Middle European Workshop

on Paediatric Endocrinology-Congenital Adrenal Hyperplasia Study Group. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle european countries. J Clin Endocrinol Metab 2001; 86: 2958-64.

• Frish H, Waldhauser F, Lebl J, Solyom J, Hargitai G, Kovacs J, Pribilincova Z. Krzisnik C, Battelino T. Congenital adrenal hyperplasia: lessons from a multinational study. Horm Res 2002: 58: 95-101.

• Votava F, Török D, Kovács J, Möslinger D, Baumgartner-Parzer S, M, Sólyom J, Pribilincová Z, Battelino T, Lebl J, Frisch H, Waldhauser F. Estimation of Fals- Negative Rate in Newborn screening for Congenital Adrenal Hyperplasia. Horm Res 2002; 58: 98-9.

• Dolzan V, Solyom J, Fekete G, Kovacs J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2006; 153: 99-106.

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• Vitáriušová E, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L. Problems of metabolic syndrome diagnostics in children. Endocr Regul 2010; 44: 115-20.

• Blusková Z, Košťálová Ľ, Celec P, Vitáriušová E, Pribilincová Z, Maršálková M, Šemberová J, Kyselová T, Hlavatá A, Kovács L. Evaluation of lipid and glucose metabolism and cortisol and thyroid hormone levels in obese appropriate for gestational age (AGA) born and non-obese small for gestational age (SGA) born prepubertal Slovak children. J Pediatr Endocrinol Metab 2014; 27: 693-9.

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E. Metabolic syndrome in children

InvestigatorsProf. László Kovács, MD, DSc, MPH ([email protected])Assoc. Prof. Ľudmila Košťálová, MD, PhDZuzana Pribilincová, MD, PhDEva Vitáriušová, MD PhDKatarína Prochotská, MD, PhDAnna Hlavatá, MD, PhD, MPHZuzana Blusková, MD, PhDKatarína Krivošíková, MD

Projects realized in the last 10 years• VEGA 1/4278/07: Current state of nutrition and incidence of obesity in 6-15 years old children in selected

regions of Slovakia (2007-2011)• VEGA 1/0497/08: Risk factors of metabolic syndrome in population of patients with exogenous obesity, mutation

of melanocortin receptor 4 and classic form of congenital adrenal hyperplasia with 21 hydroxylase deficiency (2008-2012)

• VEGA 1/1267/12: Chronic microinflammation of visceral fat and its role in development of cardiovascular and bone complications in obese children and in children with chronic inflammatory bowel disease (2012-2016)

• VEGA 1/0202/17: Humoral, renal and psychological factors in pediatric obesity and hypertension (2017-2019)

Plans for future research• Etiology of pediatric metabolic syndrome• Components of metabolic syndrome and hormonal disturbances in praepubertal and pubertal SGA born

children• Components of metabolic syndrome and hormonal disturbances in Roma SGA born children• Metabolic syndrome in Slovak Roma population• Etiology pediatric primary hypertension• Salt consumption and its influence on blood pressure• Mineral and electrolyte metabolism in children with metabolic syndrome• Changes in metabolic syndrome after intervention treatment

Devices and methods• 24 hour blood pressure monitoring• Adipokines• Body composition, bioimpedance• Examination of renal function and renal salt excretion• Mineral and electrolyte metabolism• Biochemical and humoral markers of metabolic syndrome• Analysis of circadian and ultradian rhythms of blood pressure

Selected publications• Švec P, Vásárhelyi B, Pászthy B, Körner A, Kovács L, Tulassay T, Treszl A. Do regulatory T cells contribute to Th1 skewness in

obesity? Exp Clin Endocrinol Diabet 2007; 115: 439-43.• Kovács L, Babinska K, Ševčiková Ľ. New trends in infant and child nutrition. TRIAD s.r.o. 2008; 92 pp.

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• Kovács L, Babinská K et al. Obesity, nutrition and physical activity in children. LF UK 2008.• Vitáriušová E, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L. Problems of metabolic syndrome diagnostics in children.

Endocr Regul 2010; 44: 115-20.• Vitáriušová E, Babinská K, Košťálová Ľ, Rosinský J, Hlavatá A, Pribilincová Z, Babinská K.jr, , Kovács L. Food intake , leisure

time activities and the prevalence of obesity in school children in Slovakia, Cent Eur J Public Health 2010; 18: 192-7.• Ondrejčáková M, Bakos J, Garafová A, Kovács L, Kvetňanský R, Ježová D. Neuroendocrine and cardiovascular parameters

during simulation of stress-induced rise in circulating oxytocin in the rat. Stress 2010; 13: 315-23.• Babinska K, Kovacs L, Janko V, Dallos T, Feber J. Association between obesity and the severity of ambulatory hypertension in

children and adolescents. J Am Soc Hypertens 2012; 6: 356-63.• Blusková Z, Košťálová Ľ, Celec P, Vitáriušová E, Pribilincová Z, Maršálková M, Šemberová J, Kyselová T, Hlavatá A, Kovács L.

Evaluation of lipid and glucose metabolism and cortisol and thyroid hormone levels in obese appropriate for gestational age (AGA) born and non-obese small for gestational age (SGA) born prepubertal Slovak children. J Pediatr Endocrinol Metab 2014; 27: 693-9.

• Polák E, Vitáriušová E, Celec P, Pribilincová Z, Košťálová Ľ, Hlavatá A, Kovács L, Kádaši Ľ. The prevalence of melanocortin – 4 receptor gene mutations in Slovak obese children and adolescents. J Pediatr Endocrinol Metab 2016; 29: 55-61.

• Prochotská K, Kovacs L, Vitariušová E, Feber J. Is arterial stiffness predicted by continuous metabolic syndrome score in obese children? J Am Soc Hypertens 2016; 10: 47-54.

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F. Inborn errors of metabolism

InvestigatorsAssoc.Prof. Vladimír Bzdúch, MD, PhD ([email protected])Darina Behúlova, MD, PhDKatarína Brennerová, MDAnna Hlavatá, MD, PhDKatarína Juríčková, MDMiriam Kolníková, MD, PhDS

Projects realized in the last 10 years• VEGA 2/0083/17: Whole-exome sequencing in patients with a suspicion on primary mitochondriopathies (2017-

2020)

Plans for future research• Application of tandem mass spectrometry to biochemical genetics

Devices and methods• Gas Chromatography mass spectrometry ( GC/MS)• Amino Acid Analyzer• New biochemical methods for selective screening

Selected publications• Kure S, KatoK, Dinopoulos A, Gail C, deGrauw TJ, Christodoulos J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B,

Breningstall G, Tohyama J, Aoki Y, Matsubara Y. Comprehensive Mutation Analysis of GLDC, AMT, and GCSH in Nonketotic Hyperglycinemia. Hum Mutat 2006; 27: 343-52.

• Jariabkova K, Ruisel, I, Andreánska V, Bzdúch V. Personality characteristics of adolescents and adults with Williams syndrome and Down syndrome. Studia Psychologica 2006; 48: 361-70.

• Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P. Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. J Hum Genet 2007; 52: 342-8.

• Bzduch V, Behulova D, Kozak L. Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis 2007; 30: 269-70.

• Bzduch V, Sykora P, Behulova D, Kolnikova M, Klcova V. Glucose transporter type 1 (GLUT-1) deficiency. Bratisl Lek Listy 2008; 109: 245.

• Brucknerová I, Bzdúch V, Behúlová D, Ferianec V, Dubovický M, Ujházy E, Mach M. Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency. Neuro Endocrinol Lett 2008; 29: 627-30.

• Lubanda JC, Anijalg E, Bzduch V, Thurberg BL, Benichou B, Tylki/Szymanska A. Evaluation of a low dose, after standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 2009; 11: 256-64.

• Brucknerová I, Behúlová D, Sebova C, Bzdúch V, Mach M, Dubovický M, Ujházy E. Conjugated hyperbilirubinemia as the first manifestation of mevalonic aciduria in a term newborn. Neuro Endocrinol Lett 2009; 30: 29-31.

• Brucknerová I, Behúlová D, Bzdúch V, Mach M, Dubovický M, Ujházy E. Newborn with neonatal form of molybdenum cofactor deficiency - The first patient in the Slovak Republic. Neuro Endocrinol Lett 2010; 31: 5-7.

• Behulova D, Sebova C, Syrova D, Ostrozlikova M, Bzduch V, Vasilenkova A. Transient hyperphosphatasemia: Revisited diagnostic criteria base on the study of 533 cases. Clin Biochem 2011; 44: 523.

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• Holesova D, Behulova D, Salingova A, Ostrozlikova M, Sebova C, Fabriciova K, Bzduch V, Hlavata A. Elevated serum biotinidase activity: a new view in diagnostics of hepatic glycogenoses. Clin Biochem 2011; 44: 532-3.

• Lobotková D, Staníková D, Staník J, Červeňová O, Bzdúch V, Tichá L. Lack of association between peripheral activity of thyroid hormones and elevated TSH levels in childhood obesity. JCRPE 2014; 6: 100-4.

• Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoglu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanovic V, Dionisi-Vici D, van Coster R, Morava-Kozicz E, Sperl W, Zeman J, Honzik T. TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis 2015; 38: 417-26.

• Straka M, Danišovič L, Bzdúch V, Polák Š, Varga I. The significance of electron microscopic examination of gingiva in cases of Hunter syndrome & hereditary gingival fibromatosis.Neuro Endocrinol Lett 2016; 37: 353-60.

• Lisyova J, Petrovic R, Jurickova K, Brennerova K, Urbanova D, Behulova D, Bzduch V, Chandoga J. GAI - distinct genotype and phenotype characteristics in reported Slovak patients. Bratisl Lek Listy 2016; 117: 631-8.

• Dvorakova L, Vlaskova H, Sarajlija A, Ramadza DP, Poupetova H, Hruba E, Hlavata A, Bzduch V, Peskova K, Storkanova G, Kecman B, Djordjevic M, Baric I, Fumic K, Barisic I, Reboun M, Kulhanek J, Zeman J, Magner M. Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II. Clin Genet 2017; 91: 787-96.

• Stanik J, Skopkova M, Brennerova K, Danis D, Rosolankova M, Salingova A, Bzduch V, Klimes I, Gasperikova D. Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. Diabetes Res Clin Pract 2017; 126: 144-50.

• Bzduch V, Tomcikova D, Gerinec A, Behulova D. Cataract and early nystagmus due to galactokinase deficiency. J Inherit Metab Dis 2017.

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G. Thyroid gland and ORL

InvestigatorsMiroslav Tedla, MD, PhD ([email protected])Patrik Štefanička, MD, PhDLukáš Varga, MD, PhDProf. Milan Profant, MD, PhD

Plans for future research• Effect of thyroid gland surgery on quality of life (monitoring of voice and swallowing alterations)• Thyroid gland and obesity

Devices and methods• Molecular-genetic analysis at BMC SAV• Surgical unit of ORL department in UNB

Selected publications• Fussey JM, Crunkhorn R, Tedla M, Weickert MO, Mehanna H. External beam radiotherapy in differentiated thyroid

carcinoma: A systematic review. Head Neck 2016; 38: E2297-305.• Al Maqbali T, Tedla M, Weickert MO, Mehanna H. Malignancy risk analysis in patients with inadequate fine needle aspiration

cytology (FNAC) of the thyroid. PLoS One 2012; 7: e49078.• Masindova I, Varga L, Stanik J, Valentinova L, Profant M, Klimes I, Gasperikova D. Molecular and hereditary mechanisms of

sensorineural hearing loss with focus on selected endocrinopathies. Endocr Regul 2012; 46: 167-86.

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H. Nutrition

InvestigatorsAssoc. Prof. Ľubica Argalášová, MD, PhD ([email protected])Jana Babjaková, MD, PhDProf. Jana Jurkovičová, MD, PhDProf. Ľudmila Ševčíková, MD, PhDZuzana Štefániková, MD, PhDKatarína Hirošová, RNDrMartin Samohýl, MEng, PhDr

Grants and Funding (in the last 10 years)• VEGA 1/3433/06: Study of somatic development in children and adolescents in relationship with selected genetic

and psychosocial factors (2006-2008)• VEGA 1/4274/07: Study of environmental, behavioral, and psychosocial risk factors in relationship to biological

markers of cardiovascular diseases (2007-2009)• ENNAH-European Network on Noise and Health – 7. Frame Program of EU No. 226442, FP7-ENV-2008-1,

Z-10-101/0001-00 (2009 – 2011)• SF EU Program Education, ITMS 26140230009: Preparation of study program Master of Public Health (2013-

2015)• VEGA 1/1045/12: Physical activity in relationship to somatic development, physical fitness, and psychical

balance (2012 – 2014)• VEGA 1/0637/13: Metabolic syndrome in adolescents (2013-2015)• VEGA 2/0084/14: Epicatechine in prevention of early development of primary hypertension: mechanisms of

action in cardiovascular and central nervous system (2014 – 2016)• Project proposal in the framework of the Memorandum of Understanding on Academic Exchanges between

School of Medicine Comenius University in Bratislava and New York University School of Medicine No. O-15-101-/0001-00: The Youth and Parents Risk Factor Behaviour Survey in Slovakia (YABS) (2015-2016)

Plans for future research• Detection of selected environmental, behavioral, and psychosocial risk factors of cardiovascular diseases

prevalence in adolescents and undergraduate students• Analysis of selected cardiometabolic parameters in adolescent for prevention cardiometabolic and other chronic

diseases• Monitoring of distribution of risk factors and biological markers in relation to age, sex, education, regions• Risk behavior in adolescents

Devices and methods• Reflotron – automatic device for screening of blood lipids and other biochemical parameters in capillary blood• FUTREX - NIR method for determination of body fat percentage• BIA method for determination of body fat and lean body mass content (Omron)• Caliper method for determination of body fat percentage• InBody 720 – precision body composition analyzer• Software for nutrients intake and energy expenditure analysis

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Selected publications• Jurkovičová J. Do we know how to live healthy? The incidence of cardiovascular diseases risk factors in the Slovak population

sample and the prevention possibilities. Bratislava: Comenius University 2005; 166 pp.• Argalášová Ľ, Jurkovičová J, Štefániková Z, Ševčíková Ľ, Ághová Ľ. Community response to environmental noise and the

impact on cardiovascular risk score. Sci Total Environ 2010; 408: 1264-70.• Argalášová Ľ, Lekaviciute J, Jeram S, Ševčíková Ľ, Jurkovičová J. Environmental noise and cardiovascular disease in adults:

Research in Central, Eastern and South-Eastern Europe and Newly Independent States. Noise Health 2013; 15: 22-31.• Siváková D, Vondrová D, Valkovič P, Cvíčelová M, Danková Z, Luptáková L. Bioelectrical Impedance Vector Analysis (BIVA)

in Slovak population: application in a clinical sample. Cent Eur J Biol 2013; 8: 1094-101.• Jusko TA, Oktapodas M, Palkovičová Murinová L, Babinská K, Babjaková J, Verner MA, DeWitt JC, Thevenet-Morrison K,

Čonka K, Drobná B, Chovancová J, Thurston SW, Lawrence BP, Dozier AM, Järvinen KM, Patayová H, Trnovec T, Legler J, Hertz-Picciotto I, Lamoree MH. Demographic, Reproductive, and Dietary Determinants of Perfluorooctane Sulfonic (PFOS) and Perfluorooctanoic Acid (PFOA) Concentrations in Human Colostrum. Environ Sci Technol 2016; 50: 7152-62.

• Jurkovičová J, Ághová Ľ, Štefániková Z, Ševčíková Ľ, Nosková T, Sekretár S. Cardiovascular disease risk in medical students. Studia Psychol 1997; 39: 259-65.

• Ševčíková Ľ, Ághová Ľ, Jurkovičová J, Štefániková Z, Sekretár S. Influence some family social factors on the lifestyle-associated habits in children. Studia Psychol 1997; 39: 266-9.

• Ševčíková Ľ, Ághová Ľ, Štefániková Z, Jurkovičová J. Methodical possibilities of body fat evaluation. Hygiena 1994; 39: 345-51.• Štefániková Z, Ševčíková Ľ, Ághová Ľ, Jurkovičová J. Health-nutritional attitudes, nutritional regimen and nutritional habits in

children – a cross-sectional study. Hygiena 1994; 39: 152-8.• Štefániková Z, Jurkovičová J, Ághová Ľ, Ševčíková Ľ. Selected nutritional parameters asessment in relation to cardiovascular

diseases risk in university students. Hygiena 1995; 40: 281-7.• Jurkovičová J, Ághová Ľ, Štefániková Z, Ševčíková Ľ, Ragan J, Dubrovová I. Perception of risk in relation to prevalence of

cardiovascular disease risk factors in selected population groups. Homeostasis 2000; 40: 139-41.• Štefániková Z, Jurkovičová J, Ševčíková Ľ, Sekretár S, Ághová Ľ. Psychosocial and somatic determinants of nutrition and of

physical activity self-evaluation. Homeostasis 2000; 40: 137-9.• Štefániková Z, Jurkovičová J, Ševčíková Ľ, Argalášová Ľ, Ághová Ľ. Did the nutrition of Slovak medical students change?

A comparison after 15 years. Cent Eur J Public Health 2001; 9: 223-7.• Štefániková Z, Jurkovičová J, Ševčíková Ľ, Argalášová Ľ, Sekretár S, Ághová Ľ. The influence of psychosocial conditions on

nutrition and nutritional behavior. Homeostasis 2003; 42: 199-201.• Jurkovičová J, Štefániková Z, Argalášová Ľ, Ševčíková Ľ, Ághová Ľ. Psychosocial factors in relation to cardiovascular diseases

risk in Slovak population sample. Homeostasis 2006; 44: 151-4.• Štefániková Z, Ševčíková Ľ, Jurkovičová J, Argalášová Ľ, Ághová Ľ. Positive and negative trends in university students´ food

intake. Bratisl Lek Listy 2006; 107: 217-20.• Jurkovičová J, Štefániková Z, Argalášová Ľ, Ševčíková Ľ, Ághová Ľ. Cardiovascular disease risk factors in a sample group of 65+

year-old people in the Slovak Republic. Cardiology 2009; 18: 47-62.• Hirošová K, Gerová Z, Samohýl M, Kapsdorfer D, Vondrová D, Argalášová Ľ, Ševčíková Ľ, Jurkovičová J. Prevalence of

overweight and obesity in adolescents and their association with cardiometabolic risk factors and life-style. Hygiena 2016; 61: 100-7.

• Samohýl M, Rams R, Hirošová K, Vondrová D, Kapsdorfer D, Filová A, Jurkovičová J. Impact of nutrition and the mother´s lifestyle risk factors on the birth weight and birth length of newborns´. Hygiena 2016; 61: 48-55.

• Vondrová D, Kapsdorfer D, Argalášová Ľ, Hirošová K, Samohýl M, Ševčíková Ľ. The impact of selected environmental, behavioral and psychosocial factors on schoolchildrens´ somatic and mental health. Rev Environ Health 2017; 32: 189-92.

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I. Autoimmunity and autoinflammation

InvestigatorsProf. Milan Buc, MD, DSc ([email protected])Assoc. Prof. Mária Bucová, MD, PhDAssoc. Prof. Vladimíra Ďurmanová, RNDr, PhDMonika Homolová, MD, PhDJuraj Javor, MD, PhDZuzana Párnická, MD, PhDAssoc. Prof. Ivana Shawkatová, MSc, PhDMagda Suchánková, MD, PhDTomáš Dallos, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/1170/04: Genetic predisposition to autoimmune diseases and graft versus host disease (2004-2006)• MRTN-CT-2004-005693 EURO-RA: Functional genomic approaches targeting rheumatoid arthritis, research

fellow within the „Marie-Curie Research Training Networks (2006)• Familial Mediterranean Fever in Slovakia – description of first cases• Biomarkers of Autoinflammtory Diseases (IgD in mevalonate-kinase deficiency)• Genetic determinants of Paediatric Autoimmune Diseases• Mimmics of juvenile idiopathic arthritis

Plans for future research• Immunogenetic determination of polymorphisms of genes for cytokines, chemokines, inflammatory markers

and biomarkers of disease• Focus on autoimmune diseases: rheumatoid arthritis and juvenile idiopathic artrhritis, Sjögren‘s syndrome,

systemic sclerosis, juvenile dematomyositis, diabetes mellitus, Crohn disease• Focus on autoinflammatory diseases: prevalence of autoinflammatory diseases

Devices and methods• PCR cyclers, ELISA-reader, transilluminator, spectrophotometer, photo-recording system• PCR-based methods (PCR-RFLP, PCR-SSP)• HLA typing of classical and non-classical genes• SNP typing of genes coding cytokines, cytokines receptors, adhesive molecules, membrane antigens and other

immune-related molecules• DNA sequencing• ELISA for protein detections (cytokines, acute phase proteins, pattern recognition receptors, inflammatory

markers)• Flow cytometry (cell surface markers – CDs, cytokines)• ELFO (agarose and polyacrylamide gels)

Selected publications• Kantárová D, Buc M. Genetic Susceptibility to Type I diabetes mellitus in humans. Physiol Res 2007; 56: 255-66.• Navratilova Z, Lukac J, Mrazek F, Kriegova E, Bucova M, Bosak V, Petrek M. MCP-1 -2518 A/G single nucleotide

polymorphism in Slovak patients with systemic sclerosis. Mediators Inflamm 2008; 2008: 204063.• Krivosikova M, Dallos T, Maslinski W, Buc M. B cell activating factor, its role in autoimmunity, and targeting in autoimmune

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diseases. Bratisl Lek Listy 2009; 110: 137-45.• Dallos T, Krivosikova M, Chorazy-Massalska M, Warnawin E, Zanova E, Rudnicka W, Maslinski W. BAFF from bone marrow-

derived mesenchymal stromal cells of rheumatoid arthritis patients improves their B-cell viability-supporting properties. Folia Biol 2009; 55: 166-76.

• Javor J, Ferencik S, Bucova M, Stuchlikova M, Martinka E, Barak L, Strbova L, Grosse-Wilde H, Buc M. Polymorphisms in the genes encoding TGF-beta1, TNF-alpha, and IL-6 show association with type 1 diabetes mellitus in the Slovak population. Arch Immunol Ther Exp (Warsz). 2010; 24: 65-8.

• Javor J, Chmurova N, Parnicka Z, Ferencik S, Grosse-Wilde H, Buc M, Svecova D. TNF-alpha and IL-10 gene polymorphisms show a weak association with pemphigus vulgaris in the Slovak population. J Eur Acad Dermatol Venereol 2010; 24: 65-8.

• Shawkatová I, Javor J, Párnická Z, Kozub P, Žilinková M, Frey P, Ferenčík S, Buc M. HLA-C, DRB1 and DQB1 alleles involved in genetic prodisposition to psoriasis vulgaris in the Slovak population. Folia Microbiol 2013; 58: 319-24.

• Párnická Z, Švecová D, Javor J, Shawkatová I, Buc M. High susceptibility to pemphigus vulgaris due to HLA-DRB1*14:54 in the Slovak population. Int J Immunogenet 2013; 40: 471-5.

• Buc M. Therapy of autoimmune diseases by regulatory T cells. Rheumatol 2015; 29: 63-8.• Švecova D, Parnická Z, Luha J, Buc M. HLA-DRB1 and DQB1 alleles are associated with disease severity in patients with

pemphigus vulgaris. Int J Dermatol 2015; 54: 168-73.• Ďurmanová V, Shawkatová I, Javor J, Párnická Z, Čopíková-Cundráková D, Turčáni P, Lisá I, Gajdošechová B, Buc M, Bucová

M. VLA4 gene polymorphism and susceptibility to multiple sclerosis in Slovaks. Folia Biol (Praha) 2015; 61: 8-13.• Patente TA, Monteiro MB, Vieira SM, Rossi da Silva ME, Nery M, Queiroz M, Azevedo MJ, Canani LH, Parisi MC, Pavin EJ,

Mainardi D, Javor J, Velho G, Coimbra CN, Corrêa-Giannella ML. Linkage disequilibrium with HLA-DRB1-DQB1 haplotypes explains the association of TNF-308G>A variant with type 1 diabetes in a Brazilian cohort. Gene 2015; 568: 50-4.

• Michalik J, Čierny D, Kantorová E, Kantárová D, Juraj J, Párnická Z, Kurča E, Dobrota D, Lehotský J. The association of HLA-DRB1 and HLA-DQB1 alleles with genetic susceptibility to multiple sclerosis in the Slovak population. Neurol Res 2015; 37: 1060-7.

• Javor J, Párnická Z, Michalik J, Čopíková-Cudráková D, Shawkatová I, Ďurmanová V, Gmitterová K, Klímová E, Bucová M, Buc M. The +190 G/A (rs1799864) polymorphism in the C-C chemokine receptor 2 (CCR2) gene is associated with susceptibility to multiple sclerosis in HLA-DRB1*15:01-negative individuals. J Neurol Sci 2015; 349: 138-42.

• Buc M. Juvenile idiopathic arthritis – current view on pathogenesis, genetic determination and biologic therapy. Rheumatol 2016; 30: 1-6.

• Čierny D, Michalik J, Škereňová M, Kantorová E, Sivák Š, Javor J, Kurča E, Dobrota D, Lehotský J. ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks. Neurol Res 2016; 38: 678-84.

• Buc M. Characteristic and function of ILC cells in man under physiological and pathological conditions. Allergy 2017; 19: 24-30.• Shawkatová I, Javor J, Párnická Z, Bucová M, Čopíková-Cudráková D, Michalík J, Gmitterová K, Čierny D, Buc M, Ďurmanová

V. Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients. Folia Microbiol (Praha) 2017.• Buc M. Autoimmunity and autoimmune diseases. Bratislava, 2nd edition. Veda 2016; 667 pp.• Dallos T, Avbelj M, Barák Ľ, Zapletalová J, Pribilincová Z, Krajčírová M, Košťálová Ľ, Battelino T, Kovács L. CTLA-4 gene

polymorphisms predispose to endocrine autoimmune diseases but not to celiac disease. Neuro Endocrinol Lett 2008; 29: 334-40.• Dallos T, Heiland GR, Strehl J, Karonitsch T, Gross W, Moosig F, Holl-Ulrich C, Distler JH, Manger B, Schett G, Zwerina J.

Chemokine CCL17/TARC in Churg-Strauss syndrome. Arthritis Rheum. 2010; 62: 3496-503.• Kovács L, Hlavatá A, Baldovič M, Paulovičová E, Dallos T, Fehérvízyová Z, Kadasi L. Elevated immunoglobulin D levels in

children with PFAPA syndrome. Neuro Endocrinol Lett 2010; 31: 743-6.• Dallos T, Oppl B, Kovács L, Zwerina J. Pachydermodactyly: a review. Curr Rheumatol Rep 2014; 16: 442.

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J. Inflammation in cardiovascular diseases

InvestigatorsAssoc. Prof. Mária Bucová, MD, PhD ([email protected])Assoc. Prof. Jan Lietava, MD, PhDProf. Marian Bernadic, MD, PhD

Plans for future research• Cytokine polymorphism and inflammation in cardiovascular diseases• Determination of cytokines, chemokines, and new markers of inflammation, gene expression of TREM-1 and

HMGB1, adhesive molecules

Devices and methods• PCR cyclers, PCR-SSP, RFLP, Taq Man, centrifuges• DNA/RNA spectrophotometer, transilluminator• ELFO, photo-recording system• ELISA

Selected publications• Bucova M, Lietava J, Penz P, Mrazek F, Petrkova J, Bernadic M, Petrek M. Association of MCP-1 -2518 A/G single nucleotide

polymorphism with the serum level of CRP in Slovak patients with ischemic heart disease, angina pectoris, and hypertension. Mediators Inflamm 2009; 2009: 390951.

• Bucova M, Lietava J, Mrazek F, Petrkova J, Bernadic M, Buckingham T, Petrek M. Association of chronic stable angina pectoris with MCP-1-2518 A/G single nucleotide polymorphism in the Slovak population. Clin Chim Acta 2008; 392: 71-2.

• Lietava J, Vohnout B, Penz P, Kuka P, Bucova M, Kosmalova V, Atalay M.Relationship of self-reported exercise tolerance with inflammatory markers in women with stable ischemic heart disease. Neuro Endocrinol Lett 2012; 33: 50-4.

• Bucova M. Inflammation and genetics of inflammation in cardiovascular diseases. (1-34). Angina pectoris. Federico Piscione, intech open acces Publisher, 2011, 184 pp.

• Bucova M, Lietava J, Mrazek F, Petrkova J, Penz P, Bernadic M, Buckingham TA, Petrek M.The MCP-1 -2518 (A/G) single nucleotide polymorphism is associated with ischemic heart disease and myocardial infarction in men in the Slovak population. Bratisl Lek Listy 2009; 110: 385-9.

• Bucova M, Bernadic M, Buckingham T. C-reactive protein, cytokines and inflammation in cardiovascular diseases.Bratisl Lek Listy 2008; 109: 333-40.

• Kuka P, Bucova M, Penz P, Paulovicova E, Blazicek P, Atalay M, Lietava J. HSP60, oxidative stress parameters and cardiometabolic risk markers in hypertensive and normotensive Slovak females. Bratisl Lek Listy 2010; 111: 527-34.

• Penz P, Bucova M, Lietava J, Blazicek P, Paulovicova E, Mrazek F, Bernadic M, Buckingham TA, Petrek M. MCP-1 -2518 A/G gene polymorphism is associated with blood pressure in ischemic heart disease asymptomatic subjects. Bratisl Lek Listy 2010; 111: 420-5.

• Martakova L, Olejarova I, Danova K, Fischer V, Parrak V, Bucova M, Pechan I. Cytokine levels in patients with a very low left ventricular ejection fraction after open heart surgery. Bratisl Lek Listy 2001; 102: 548-51.

• Bucova M. Inflammation and genetics of inflammatory response in cardiovascular diseases. Kardiologia 2008; 17: 15-22.• Madaric J, Klepanec A, Valachovicova M, Mistrik M, Bucova M, Olejarova I, Necpal R, Madaricova T, Paulis L, Vulev I.

Characteristics of responders to autologous bone marrow cell therapy for no-option critical limb ischemia. Stem Cell Res Ther 2016; 7: 116.

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K. Rheumatoid arthritis

InvestigatorsAssoc. Prof. Zdenko Killinger, MD, PhD ([email protected])Prof. Juraj Payer, MD, PhD, MPH, FRCPProf. Jozef Rovenský, MD, DSc, FRCPPeter Jackuliak, MD, PhDKristína Brázdilová, MD, PhDDaniel Čierny, MD, PhD

Projects realized in the last 10 years• Determination of cellular and molecular mechanisms responsible for pharmacological modulation of activity of

phagocytes - neutrophil granulocytes and microglia cells• Elucidation of effects of drugs affecting production of free oxygen and nitrate species• Elucidation of changes in neutrophils activity in patients with rheumatoid arthritis

Plans for future research• Determination of effect of inflammatory rheumatic diseases on bone metabolism, metabolic syndrome and

cardiovascular risk• Evaluation of bone quality in secondary osteoporosis with focus on inflammatory rheumatic diseases• Effect of biological therapy on bone metabolism and parameters related to bone quality

Devices and methods• Whole body densitometer (Discovery Wi Hologic) enabling to measure bone density, morphological scan of

spine (software IVA, Hologic), Hip structure analysis software - measurement of several indexes characterizing solidity of femoral cervix, whole body composition - ration of fat, muscle and bone

• Non-invasive evaluation of aortal calcifications by DXA method• Determination of parameters characterizing bone turnover, calcium phosphate metabolism

Selected publications• Killinger Z, Kužma M, Sterančáková L, Payer J. Osteoarticular changes in acromegaly. Int J Endocrinol 2012; 2012: 839282.• Killinger Z, Cierny D, Jackuliak P, Zelinkova Z, Rovensky J, Payer J. Long-term efficacy of infliximab for treating Takayasu

arteritis. Isr Med Assoc J 2012; 14: 771-3.• Brazdilova K, Dlesk A, Koller T, Killinger Z, Payer J. Vitamin D deficiency - a possible link between osteoporosis and metabolic

syndrome. Bratisl Lek Listy 2012; 113: 412-6.• Kužma M, Binkley N, Bednárová A, Killinger Z, Vaňuga P, Payer J. Trabecular bone score change differs with regard to 25(OH)

D levels in patients treated for adult-onset growth hormone deficiency. Endocr Pract 2016; 22: 951-8.

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L. Inflammatory bowel diseases

InvestigatorsAssoc. Prof. Tibor Hlavatý, MD, PhD ([email protected])Assoc. Prof. Tomáš Koller, MD, PhDAssoc. Prof. Peter Celec, MD, Dipl Eng, Dr Rer Nat, DSc, MPHProf. Juraj Payer, MD, PhD, MPH, FRCPAnna Krajčovičová, MD, PhDIgor Šturdík, MDZuzana Lešková, MD

Projects realized in the last 10 years• Grant APVV (APVV-0672-11): The role of vitamin D in inflammatory bowel diseases (2012-2015)• Ministry of Health scientific grant (2007/19-UK-02): Extraintestinal complications of inflammatory bowel

diseases (2008-2013)• Ferring international scientific grant: Screening of colorectal dysplasia in IBD patients (2008-2011)• VEGA (VEGA 1/0007/08): Pharmacogenetics of therapy for inflammatory bowel diseases (2008-2011)

Plans for future research• Assesment of the optimal therapeutic regimen of vitamin D supplementation• Investigation of further potential biomarkers of disease acitvity• Investigation of prevention of osteoporosis• Evaluation of the role of therapeutic drug monitoring• Systematic reviews and meta-analysis

Devices and methods• Endoscopy department incl, videocolonoscopy, enteroscopy, chromoendoscopy• Abdominal and small bowel ultrasound• Infusion unit at the IBD centre• Investigation of infliximab through levels and antibody formation• Investigation of calcium related and calcium not related effects of vitamin D• Dual energy X-ray absorptiometry• Trabecular bone score, hip structure analysis

Selected publications• Hlavaty T, Pierik M, Henckaerts L, Ferrante M, Joossens S, van Schuerbeek N, Noman M, Rutgeerts P, Vermeire S.

Polymorphisms in apoptosis genes predict response to infliximab therapy in luminal and fistulizing Crohn’s disease. Aliment Pharmacol Ther 2005; 22: 613-26.

• Hlavaty T, Ferrante M, Henckaerts L, Pierik M, Rutgeerts P, Vermeire S. Predictive model for the outcome of infliximab therapy in Crohn’s disease based on apoptotic pharmacogenetic index and clinical predictors. Inflam Bowel Dis 2007; 13: 372-9.

• Hlavaty T, Huorka M, Koller T, Zita P, Kresanova E, Rychly B, Toth J. Colorectal cancer screening in patients with ulcerative and Crohn’s colitis with use of colonoscopy, chromoendoscopy and confocal endomicroscopy. Eur J Gastroenterol Hepat 2011; 23: 680-9.

• Hlavaty T, Batovsky M, Balakova D, Pav I, Celec P, Gregus M, Zakuciova M, Hlista M, Horakova M, Desatova B, Koller T, Toth J, Kadasi L, Huorka M; Slovak IBD study group (SK IBD). The impact of thiopurine-S-methyltransferase genotype on the adverse drug reactions to azathioprine in patients with inflammatory bowel diseases. Bratisl Lek Listy 2013; 114:199-205.

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• Hlavaty T, Krajcovicova A, Koller T, Toth J, Nevidanska M, Huorka M, Payer J. Higher vitamin D serum concentration increases health related quality of life in patients with inflammatory bowel diseases. World J Gastroenterol 2014; 20: 15787-96.

• Hlavaty T, Krajcovicova A, Payer J. Vitamin D Therapy in Inflammatory Bowel Diseases: Who, in What Form, and How Much? J Crohns Colitis 2014; 9: 198-209.

• Krajcovicova A, Hlavaty T, Killinger Z, Miznerova E, Toth J, Letkovsky J, Nevidanska M, Cierny D, Koller T, Zelinkova Z, Huorka M, Payer J. Combination therapy with an immunomodulator and anti-TNFalpha agent improves bone mineral density in IBD patients. J Crohns Colitis 2014; 8: 1693-701.

• Rencz F, Péntek M, Bortlik M, Zagorowicz E, Hlavaty T, Śliwczyński A, Diculescu MM, Kupcinskas L, Gecse KB, Gulácsi L, Lakatos PL Biological therapy in inflammatory bowel diseases: Access in Central and Eastern Europe. World J Gastroenterol 2015; 21: 1728-37.

• Hlavaty T, Krajcovicova A, Letkovsky J, Sturdik I, Koller T, Toth J, Huorka M. Relapse rates of inflammatory bowel disease patients in deep and clinical remission after discontinuing anti-tumor necrosis factor alpha therapy. Bratisl Lek Listy 2016; 117: 205-11.

• Hlavatý T, Krajcovicova A, Sturdik I, Letkovský J, Koller T, Tóth J, Huorka M. Biosimilar infliximab CT-P13 treatment in patients with inflammatory bowel diseases - a one year, single centre retrospective study. Gastrenterol Hepatol 2016; 70: 27-36.

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M. Legionnaires´disease, Leptospirosis, Tularemia, nosocomial infections

InvestigatorsAssoc. Prof. Margita Špaleková, MD, PhD ([email protected])Martina Kotrbancová, MScMiriam Fulová MD, MScVanda Výrosteková, MD, PhDJana Jareková, MD, PhDErika Macháčová, MD, PhDJana Perželová, RNDr

Projects realized in the last 10 years• VEGA 1/0426/11: Epidemiology and diagnostics of selected infectious diseases – tularemia, leptospiroses and

legioneloses by classic and molecular biological methods (2011-2014)• Project of League against cancer: Risk of legionelloses for paediatric oncologic patients (2016)• VEGA 1/4281/07: Complex epidemiologic investigation of selected infections with natural focality in Slovakia in

genomic era (2007 – 2009)• VEGA 2/7020/7: Species competensis of vectors in circulation of tick-borne transmitted microorganisms (2007 -

2009)• VEGA 2/0142/10: Importance of ectoparasitic arthropodes (mites, ticks) in circulation of intracelular

proteobacteriae (rickettsiae, anaplasmae, Francisella tularensis) in natural foci on infections (2010-2012)

Plans for future research• Diagnostics of legionelloses (cultivation, detection of legionella antigen in urine -ELISA, PCR), selogical tests

(immunofluorescence, agglutination), participation in international external control (ELISA, PCR)• Investigation of legionellae colonisation in water systems, risk assessment in hospitals, monitoring of legionella

in water in hospitals• Epidemiological investigation and analysis of community and nosocomial cases• Surveillance of legionelloses in Slovakia – epidemiologic patterns/characteristics of legionella infections in

Slovakia• Cooperation with ECDC –ELDSNet (notification of cases in TESSY, national focal point, collaboration in TALD

–travel associated legionella cases)• Diagnostics of tularemia in human (serological tests (agglutination), cultivation, PCR), investigation of natural

focus – sampling animal sera, risk assessment, monitoring of natural focuses of infection• Epidemiological investigation and analysis of community cases of tularemia and other vector-borne zoonotic

infections• Surveillance of tularemia – epidemiologic characteristics of francisellae infections in Slovakia• Cooperation with Veterinary Authorities, Slovak Academy of Sciences• Diagnostics of leptospiroses (serological tests - agglutination-MAT, ELISA), cultivation, microscopy in dark field,

detection of nucleic acid ofleptospirae in PCR, participation in international external control (MAT)• Notification of human leptospira infection to national EPIS• Investigation of leptospiral infections in foci (association with animal infections), risk assessment, •

epidemiological investigation and analysis of community cases• Surveillance of leptospiroses in Slovakia – changing epidemiologic characteristics of leptospirae infections in

Slovakia• Epidemiology of nosocomial infections, particularly in paediatric wards/hospitals in Slovakia, infections in

children with oncologic diseases

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• Diagnostics of legionelloses in patients with underlying diseases in hospitals (cultivation, detection of legionella antigen in urine -ELISA, PCR, serological tests (immunofluorescence, agglutination),

• Surveillance of legionelloses in Slovakia – epidemiologic characteristics of legionella nosocomial infections in Slovakia-notification in national EPIS

• Cooperation with ECDC –ELDSNet (notification of nosocomial cases in TESSY, national focal point)

Devices and methods• PCR termocycler, centrifuges• Spectrophotometer, transilluminator• ELFO, photo-recording system• ELISA reader• Incubator

Selected publications• Spalekova M. Epidemiology of legionellosis in Europe and in the Slovak Republic. Bratisl Lek Listy 2006; 107: 221.• Gurycová D, Tináková K, Výrosteková V, Gacíková E. Occurrence of tularemia in Slovakia 1997 - 2008. Epidemiol Mikrobiol

Imunol 2010; 59: 39-44.• Resch G, Awad-Masalmeh M, Bakoss P, Jareková J. Utility of phylogenetic studies in the identification of Leptospira strains.

Epidemiol Infect 2007; 135: 1266-73.• Bakoss P, Jareková J, Labuda M. An attempt to control a natural focus of leptospirosis grippotyphosa by rodenticide - a long-

term study (1977-2004). Ann Agric Environ Med 2007; 14: 51-6.• Bakoss P, Macháčová E, Jareková J. Long-term trends in the epidemiology of human leptospirosis (Slovak Republic, 1954 -

2006). Eur J Clin Microbiol Infect Dis 2012; 31: 2167-76.• Awad-Masalmeh M, Resch G, Bakoss P, Jarekova J. DNA relatedness and serotyping of Leptospira strains. Bratisl Lek Listy

2012; 113: 70-2.

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N. Sepsis

InvestigatorsAssoc. Prof. Mária Bucová, MD, PhD ([email protected])Michaela Olejárová, MDMagda Suchánková, MD, PhDAnna Dobišová, MD, PhD

Plans for future research• Determination of biomarkers of early diagnosis of sepsis, differentiation from SIRS and for monitoring and

prediction of mortality• New inflammatory markers TREM-1, TEM-2, sTREM-1, sTREM2, CD64, presepsin, IL-6, IL-10, IL-35 and others• Immunogenetic determination of cytokines polymorphism and polymorphism of TREM and HMGB1 molecules

Devices and methods• PCR cyclers, PCR-SSP, RFLP, Taq Man, centrifuges• DNA/RNA spectrophotometer, transilluminator• ELFO, photo-recording system• ELISA• Flow cytometry

Selected publications• Bucová M, Záhorec R, Buc M. Immunomodulatory effect of recombinant human procalcitonin on mitogenic activity of

lymphocytes. Centr Eur J Immunol 2006; 31: 87-93.• Naglova H, Bucova M. HMGB1 and its physiological and pathological roles. Bratisl Lek Listy 2012; 113: 163-71.• Pinčíková T, Bucová M, Slobodníková L. Influence of recombinant human procalcitonin on phagocytic and candidacidal

ability of polymorphonuclear le and on killing mechanisms of serum and blood against bacteria Staphylococcus aureus and Escherichia coli. Vnitr Lek 2005; 51: 1365-70.

• Bucová M. Inflammation and sepsis. In: Ferenčík M (ed.): Inflammation – fundamental principle of diseases origin. Balneotherma 2008; 234-45.

• Bucová, M. Role of cytokines in the development of local and systemic inflammation and septic shock. Vnitr Lek 2002; 48: 755-62.• Bucová M. Procalcitonin - prohormon, hormokine, mediator of inflammation, diagnostic and prognostic marker of systemic

inflammation. Cesk Fyziol 2005; 54: 97-108.

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O1. Microscopic structure, development and evolution of thymus

InvestigatorsAssoc. Prof. Ivan Varga, RNDr, PhD ([email protected])Prof. Štefan Polák, MD, PhDRenáta Mikušová, MD, PhDPaulína Gálfiová, MD, PhDJán Liška, MVD, PhDMichal Miko, MD, PhD

Grants and Funding (in the last 10 years)• VEGA 1/0902/11: Thymus in human ontogenesis - changes in microscopic structure and ultrastructure of

thymus in children with congenital heart defects (2011-2013)• APVV-0434-12: Morphologic characterization of reparative and regenerative processes in myocardium during

chronic diseases (2013-2017)• VEGA 1/0086/17: Congenital gut motility disorders: histological and molecular biological study of aganglionar

parts of colon of pediatric patients with Hirschsprung disease (2017-2021)

Plans for future research• Determination of the role of enteric nervous system in the development of immune system, especially in cases of

gut aganglionosis (e.g, Hirschsprung disease)• Microscopic morphological changes of thymus in children in cases of congenital heart defects or sudden infant

death syndrome• The role of thymic Hassall´s bodies in the development of immunity• Clinical anatomical aspects of congenital anomalies of human lymphatic organs

Devices and methods• Light and fluorescent microscopy, include immunohistochemistry and histochemistry• Transmission and scanning electron microscopy• EDAX analysis

Selected publications• Varga I. Thymus. In Tubbs RS, Shoja MM, Loukas M (Eds). Bergman´s Comprehensive Encyclopedia of Human Anatomic

Variation. Hoboken: John Wiley & Sons 2016; 914-8.• Béder I, Varga I, Béder I. Systema lymphaticum hominis. Bratislava: Herba 2015; 112 pp.• Mikušová R, Mešťanová V, Polák Š, Varga I. What do we know about the structure of human thymic Hassall’s corpuscles? A

histochemical, immuno-histochemical,and electron microscopic study. Ann Anat 2017; 211: 140-8.• Mešťanová V, Varga I. Morphological view on the evolution of the immunity and lymphoid organs of vertebrates, focus on

thymus. Biologia 2016; 71: 1080-97.• Jablonská-Mešťanová V, Šišovský V, Danišovič Ľ, Polák Š, Varga I. The normal human newborns thymus. Bratisl Lek Listy 2013;

114: 402-8.• Varga I, Neščáková E, Tóth F, Uhrinová A, Adamkov M. Nutrition and immune system: the size of the thymus as an indicator

of the newborn´s nutrition status. Anthropol Anz 2011; 68: 265-74.• Varga I, Uhrinová A, Tóth F, Mištinová J. Assessment of the thymic morphometry using ultrasound in full-term newborns.

Surg Radiol Anat 2011; 33: 689-95.

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• Varga I, Pospíšilová V, Mešťanová V, Gálfiová P, Polák Š. The thymus: picture review of human thymus prenatal development. Bratisl Lek Listy 2011; 112: 368-76.

• Varga I, Gálfiová P, Mešťanová V, Polák Š, Adamkov M. Some aspects of early development of the thymus: embryological basis for ectopic thymus and thymopharyngeal duct cyst. Rev Arg de Anat Clin 2011; 3: 22-31.

• Varga I, Jablonská – Mešťanová V, Cingel V, Kubíková E, Dorko F, Polák Š. The first histological and immunohistological examination of thymus in a case of fetus in fetu. Ann Anat 2010; 192: 232-6.

• Varga I, Pospíšilová V, Mešťanová V, Šišovský V, Gálfiová P, Polák Š, Adamkov M. Thymic Hassall´s bodies of children with congenital heart defects. Bratisl Lek Listy 2010; 111: 552-7.

• Gálfiová P, Pospíšilová V, Varga I, Šikuta J, Kiss A, Majeský I, Jakubovský J, Polák Š. Endocrine organs and laser scanning confocal microscopy (LSCM) imaging: vascular bed in human spleen. Endocr Regul 2010; 44: 137-42.

• Varga I, Gálfiová P, Adamkov M, Danišovič Ľ, Polák Š, Kubíková E, Galbavý Š. Congenital anomalies of the spleen from an embryological point of view. Med Sci Monit 2009; 15: 269-76.

• Polák Š, Gálfiová P, Varga I. Ultrastructure of human spleen in transmission and scanning electron microscope. Biologia 2009; 64: 402-8.

• Gálfiová P, Varga I, Kopáni M, Michalka P, Michalková J, Jakubovský J, Polák Š. Some possibilities of representing microcirculation in human spleen. Biologia 2009; 64: 1242-6.

• Varga I, Mikušová R, Pospíšilová V, Gálfiová P, Adamkov M, Polák Š, Galbavý Š. Morphologic heterogeneity of human thymic nonlymphocytic cells. Neuro Endocrinol Lett 2009; 30: 275-83.

• Varga I, Tóth F, Uhrinová A, Neščáková E, Polák Š. Association among size of thymus, anthropometric dimensions and number of lymphocytes in peripheral blood in newborns from Slovakia. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2009; 153: 229-34.

• Varga I, Pospíšilová V, Gmitterová K, Gálfiová P, Polák Š, Galbavý Š. The phylogenesis and ontogenesis of the human pharyngeal region focused on the thymus, parathyroid, and thyroid glands. Neuro Endocrinol Lett 2008; 29: 837-45.

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O2. Microscopic structure and blood microcirculation of spleen

InvestigatorsProf. Štefan Polák, MD, PhD ([email protected])Assoc. Prof. Ivan Varga, RNDr, PhDSimona Polakovičová, MD, PhDMária Csöbönyeiová, RNDrRenáta Mikušová, MD, PhDJán Liška, MVD, PhDMichal Miko, MD, PhDMichaela Vrabcová, MSc, PhD

Grants and Funding (in the last 10 years)• VEGA 1/4252/07: The structure of blood microcirculation of human spleen (2007-2009)• VEGA 1/0902/11: Thymus in human ontogenesis - changes in microscopic structure and ultrastructure of

thymus in children with congenital heart defects (2011-2013)• APVV-0434-12: Morphologic characterization of reparative and regenerative processes in myocardium during

chronic diseases (2013-2017)• VEGA 1/0086/17: Congenital gut motility disorders: histological and molecular biological study of aganglionar

parts of colon of pediatric patients with Hirschsprung disease (2017-2021)

Plans for future research• Determination of the role of enteric nervous system in the development of immune system, especially in cases of

gut aganglionosis (e.g, Hirschsprung disease)• Microscopic morphological changes of thymus in children in cases of congenital heart defects or sudden infant

death syndrome• The role of thymic Hassall´s bodies in the development of immunity• Clinical anatomical aspects of congenital anomalies of human lymphatic organs

Devices and methods• Light microscopes• Fluorescent microscopes• Electron microscope - transmission and scanning

Selected publications• Varga I, Urban L, Kajanová M, Polák Š. Functional histology and possible clinical significance of recently discovered telocytes

inside the female reproductive system. Arch Gynecol Obstet 2016; 294: 417-22.• Varga I, Danisovic L, Kyselovič J, Musil P, Gažová A, Miko M, Polák Š. The functional morphology and role of cardiac telocytes

in myocardium regeneration. Can J Physiol Pharmacol 2016; 94: 1117-21.• Csöbönyeiová M, Polák Š, Danišovič L. Toxicity testing and drug screening using iPSC-derived hepatocytes, cardiomyocytes,

and neural cells. Can J Physiol Pharmacol 2016; 1: 1-8.• Csöbönyeiová M, Polák Š, Danišovič L. Recent approaches and challenges in iPSCs: modeling and cell-based therapy of

Alzheimer‘s disease. Rev Neurosci 2016; 27: 457-64.• Juríková M, Danihel Ľ, Polák Š, Varga I. Ki67, PCNA, and MCM proteins: Markers of proliferation in the diagnosis of breast

cancer. Acta Histochem 2016; 118: 544-52.• Csöbönyeiová M, Danišovič Ľ, Polák Š. Recent advances in iPSC technologies involving cardiovascular and neurodegenerative

disease modeling. Gen Physiol Biophys 2016; 35: 1-12.

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• Biro C, Busikova P, Fujerikova G, El-Hassoun O, Kopaniova A, Caplovicova M, Galfiova P, Sisovsky V, Kopani M, Jakubovsky J. Iron-rich complexes in human spleen in hereditary spherocytosis. Bratisl Lek Listy 2012; 113: 214-6.

• Biro C, Kopani M, Kopaniova A, Zitnanova I, El-Hassoun O, Minoo P, Kolenova L, Sisovsky V, Caplovicova M, Stvrtina S, Galfiova P, Guller L, Jakubovsky J. Iron accumulation in human spleen in autoimmune thrombocytopenia and hereditary spherocytosis. Bratisl Lek Listy 2012; 113: 92-4.

• Galfiova P, Pospisilova V, Varga I, Sikuta J, Kiss A, Majesky I, Jakubovsky J, Polak S. Endocrine organs and laser scanning confocal microscopy (LSCM) imaging: vascular bed in human spleen. Endocr Regul 2010; 44: 137-42.

• Varga I, Galfiova P, Adamkov M, Danisovic L, Polak S, Kubikova E, Galbavy S. Congenital anomalies of the spleen from an embryological point of view. Med Sci Monit 2009; 15: 269-76.

• Polák Š, Gálfiová P, Varga I. Ultrastructure of human spleen in transmission and scanning electron microscope. Biologia 2009; 64: 402-8.

• Gálfiová P, Varga I, Kopáni M, Michalka P, Michalková J, Jakubovský J, Polák Š. Some possibilities of representing microcirculation in human spleen. Biologia 2009; 64: 1242-6.

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P. Hereditary ciliopathies, RASopathies and tubulopathies

InvestigatorsProf. László Kovács, MD, DSc, MPH ([email protected])Prof. Ľudovit Danihel, MD, PhDKatarína Skalická, RNDr, PhDAnna Hlavatá, MD, PhD, MPHViktor Jankó, MD, PhDGabriela Hrčková, MDPavol Janega, MD, PhDÁgnes Baranyaiová, MScAnita Vaská, MSc

Projects realized in the last 10 years• APVV 14/0234: Mutational analysis of genes affecting structure and function of primary cilia and their

importance in polycystic kidney disease (2014-2017)• Grant Slovak Ministry of Health 2012/5-UKBA-5: DNA analysis and identification of risk factors of progression

of renal disease in patients with polycystic kidney disease (2014-2017)• Grant Slovak Ministry of Health 2012/21-UKBA-21: Evaluation of effect of genetic, genomic and immunologic

alterations in children with dysregulation of the (MAPK)-RAS signal pathway s predilection to malignities. (RASGEN) (2014-2017)

• VEGA 1/0955/11: Mutational anylysis, log-term clinical follow-up and therapeutics of autosomal dominant polycystic kidney disease in Slovak children and their family members (2011-2013)

• VEGA 1/0497/08: Obesity in children and metabolic syndrome (2009-2011)• VEGA 1/4314/07: Screening and mutational analysis of Fabri disease and hyper-IgD syndrome in Slovak

population (2007-2009)• Grant Slovak Ministry of Health 2005/4-DFNsPBA-02: Mutational analysis, early DNA diagnosis and prevention

of frequent and severe hereditary diseases of childhood (2005-2008)

Plans for future research• NGS mutational analysis of genes affecting structure and function of cilia and their relationship to human

diseases including polycystic kidney disease and primary ciliary dyskinesia. Pathogenesis of interstitial inflammation at the molecular level and identification of genetic changes along key signal pathways influencing cystic growth and progression of the disease to terminal renal failure. Building and extension of Slovak patient registries for ciliopathies.

• NGS mutational analysis of genes involved in the pathogenesis of rasopathies. Effect of genetic, genomic and immunologic alterations in children with dysregulation of the (MAPK)-RAS signal pathway and predilection to malignancies. Development and extension of registry for Slovak patients with rasopathies, including neurofibromatosis.

• Molecular analysis of causal genes responsible for various inherited forms of diabetes insipidus and renal tubular defects. Development of patient registry for renal tubulopathies.

Devices and methods• ABI PRISM 3100 Avant genetic analyzer (Applied Biosystems), MiSeq (Illumina),• Bioanalyzer 2100 (Agilent technologies), AriaMX real-time PCR system (Agilent technologies)• Covaris ultrasonificator with AFA technology (Covaris), CentriVap DNAVacuum Concentrator (Labconco),

Blotting equipments

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Selected publications• Šufliarska S, Minárik G, Horáková J, Boďová I, Bojtárová E, Czako B, Mistrík M, Drgoňa Ľ, Demitrovičová M, Lakota J. Homolová

M, Kovács L. Establishing the method of chimerism monitoring after allogeneic stem cell transplantation using multiplex polymerase chain reaction amplification of short tandem repeat markers and Amelogenin. Neoplasma 2007; 54: 424-30.

• Kolesár P, Minárik G, Baldovič M, Ficek A, Kovács L, Kádaši Ľ. Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. Gen Physiol Biophys 2008; 27: 299-305.

• Dallos, T, Avbelj M, Barák, Ľ, Zapletalová, J, Pribilincová, Z, Krajčírová, M, Košťálová, Ľ, Battelino, T, Kovács, L. CTLA-4 gene polymorphisms predispose to autoimmune endocrinopathies but not to celiac disease. Neuro Endocrinol Lett 2008; 29: 334-40.

• Radvanská, E, Kamperis, K, Kleif, A, Kovács, L, Rittig, S. Effect of laser acupuncture for monosymptomatic nocturnal enuresis on bladder reservoir function and nocturnal urine output. J Urol 2011; 185: 1857-61.

• Ilenčíková D, Cižmárová M, Krajčiová A, Požgayová S, Rybárová A, Kovács L. Clinical dysmorphic syndromes with tumorigenesis. Klin Onkol 2012; 25: S39-48.

• Bolčeková, A, Némethová, M, Zaťková, A, Skalická, K, Požgayová, S, Hlavatá, A, Kádaši, Ľ, Ďurovčíková, D, Gerinec, A, Husáková, K, Pavlovičová, Z, Holobradá, M, Kovács, L, Ilenčíková, D. Clustering of mutations in the 5’tertile of the NF1 gene in Slovak patients with optic pathway glioma. Neoplasma 2013; 60: 655-65.

• Čizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy. Endocr Regul 2013; 47: 217-22.

• Čižmárová, M, Nagyová, G, Jankó, V, Pribilincová, Z, Virgová, D, Ilenčíková, D, Kovács, L. Late onset of familial neurogenic diabetes insipidus in monozygotic twins. Endocr Regul 2013; 47: 211-16.

• Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A. Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. Ann Hum Genet 2013; 77: 364-79.

• Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Ann Hum Genet 2016; 80: 50-62.

• Hrčková G, Jankó V, Kytnarová J, Čižmárová M, Tesařová M, Košťálová Ľ, Virgová D, Dallos T, Hána V, Lebl J, Zeman J, Kovács L. Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing. Eur J Pediatr 2016; 175: 1199-207.

• Skalická K, Kovács L. Ciliotherapy–new opportunity for targeted therapy in autosomal dominant polycystic kidney disease. J Genet Syndr Gene Ther 2016; 7: 310-5.

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Q. Extracellular DNA

InvestigatorsAssoc. Prof. Peter Celec, MD, Dipl Eng, Dr Rer Nat, DSc, MPH ([email protected])Assoc. Prof. Katarína Šebeková, MD, DScJúlius Hodosy, MD, MSc, PhD, MPHRoman Gardlík, MD, RNDr, PhDBarbora Vlková, RNDr, PhDĽubomíra Tóthová, RNDr, PhDJanka Bábíčková, MSc, PhD

Grants and Funding (in the last 10 years)• APVV-16-0273: Deoxyribonuclease activity in plasma and its role in the cleavage of extracellular DNA (2017-

2020)• APVV-0539-12: Salivary steroids and their effects on cognitive abilities according to prenatal testosterone (2013-

2016)• APVV-0447-12: Metabolic syndrome in adolescent children (2013-2016)

Plans for future research• Plasma deoxyribonuclease activity and extracellular DNA in the pathogenesis of inflammatory diseases• Metabolic effects of prenatal dietary advanced glycation end products• Pathomechanisms of neurodevelopmental disorders in animal models• Molecular biomarkers for point of care testing

Devices and methods• Animal models of human diseases• Quantification and characterisation of plasma DNA• Behavioral phenotyping of experimental rodents• Analysis of markers of oxidative and carbonyl stress

Selected publications• Čonka J, Konečná B, Lauková L, Vlková B, Celec P. Fetal DNA does not induce preeclampsia-like symptoms when delivered in

late pregnancy in the mouse. Placenta 2017; 52: 100-5.• Vokálová L, Lauková L, Čonka J, Melišková V, Borbélyová V, Bábíčková J, Tóthová L, Hodosy J, Vlková B, Celec P.

Deoxyribonuclease partially ameliorates thioacetamide-induced hepatorenal injury. Am J Physiol Gastrointest Liver Physiol 2017; 312: G457-63.

• Bábíčková J, Borbélyová V, Tóthová L, Kubišová K, Janega P, Hodosy J, Celec P. The renal effects of prenatal testosterone in rats. J Urol 2015; 193: 1700-8.

• Celec P, Tretinárová D, Minárik G, Ficek A, Szemes T, Lakatošová S, Schmidtová E, Turňa J, Kádaši Ľ, Ostatníková D. Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys. PLoS One 2013; 8: e54751.

• Šebeková K, Dušinská M, Simon Klenovics K, Kollárová R, Boor P, Kebis A, Staruchová M, Vlková B, Celec P, Hodosy J, Bačiak L, Tušková R, Beňo M, Tulinská J, Príbojová J, Bilaničová D, Pojana G, Marcomini A, Volkovová K. Comprehensive assessment of nephrotoxicity of intravenously administered sodium-oleate-coated ultra-small superparamagnetic iron oxide (USPIO) and titanium dioxide (TiO2) nanoparticles in rats. Nanotoxicology 2014; 8: 142-57.

• Hodosy J, Zelmanová D, Majzúnová M, Filová B, Malinová M, Ostatníková D, Celec P. The anxiolytic effect of testosterone in the rat is mediated via the androgen receptor. Pharmacol Biochem Behav 2012; 102: 191-5.

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• Celec P, Hodosy J, Gardlík R, Behuliak M, Pálffy R, Pribula M, Jáni P, Turňa J, Šebeková K. The effects of anti-inflammatory and anti-angiogenic DNA vaccination on diabetic nephropathy in rats. Hum Gene Ther 2012; 23: 158-66.

• Boor P, Celec P, Martin IV, Villa L, Hodosy J, Klenovicsová K, Esposito C, Schäfer S, Albrecht-Küpper B, Ostendorf T, Heidland A, Šebeková K. The peroxisome proliferator-activated receptor-α agonist, BAY PP1, attenuates renal fibrosis in rats. Kidney Int 2011; 80: 1182-97.

• Celec P, Hodosy J, Jáni P, Janega P, Kúdela M, Kalousová M, Holzerová J, Parrák V, Halčák L, Zima T, Braun M, Pecháň I, Murín J, Šebeková K. Advanced glycation end products in myocardial reperfusion injury. Heart Vessels 2012; 27: 208-15.

• Tóthová L, Hodosy J, Kamodyová N, Janega P, Slobodníková L, Liptáková A, Boor P, Celec P. Bactofection with toll-like receptor 4 in a murine model of urinary tract infection. Curr Microbiol 2011; 62: 1739-42.

• Celec P, Pálffy R, Gardlík R, Behuliak M, Hodosy J, Jáni P, Božek P, Šebeková K. Renal and metabolic effects of three months of decarbonated cola beverages in rats. Exp Biol Med (Maywood) 2010; 235: 1321-7.

• Wagnerová A, Bábíčková J, Lipták R, Vlková B, Celec P, Gardlík R. Sex differences in the effect of resveratrol on DSS-induced colitis in mice. Gastroenterol Res Pract 2017; 2017: 8051870.

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R. Novel biomarkers in chronic kidney disease

InvestigatorsAssoc. Prof. Katarína Šebeková, MD, DSc ([email protected])Prof. Ľudmila Podracká, MD, PhDAssoc. Prof. Peter Celec, MD, Dipl Eng, Dr Rer Nat, DSc, MPHKristina Simon Klenovics, MD, PhDĽubomíra Tóthová, RNDr, PhDAlexandra Kovalčíková, MScAlžbeta Lencsenyová, MD

Grants and Funding (in the last 10 years)• VEGA 1/1178/04: Factors determined renal scarring in children with vesicorenal reflux (2005-2007)• VEGA 1/3362/06: Polymorphism of 5,10 MTHR gene and deficiency of folic acid in Slovak pediatric population

– incidence and role in multifactorial diseases (2007-2009)• Norwegian found SJK0017-GOL-00143-H-V2(1):The research of glucocorticoid influence on pediatric diseases -

children´s health improvement (2007-2010)• MZ 2005/1-DFNKE-01: Molecular aspects of teratogenic, metabolic and atherogenic effects of

hyperhomocysteinemia on the fetus and child (2006-2008)• APVV-20-038305: Quality of life in patients with a chronic disease: multilevel integrative approach (2006-2009)• MZ SR č. 2007/65-UPJS-02: Genomic data on birth defects (2008-2010)• VEGA 1/0525/10: Defects of folate metabolism in patogenesis of multiple malformations (2010-2011)• VEGA 1/0805/08: New markers of cardiovascular risks in children and adolescents with chronic renal diseases

(2008-2011)• 7FP EC EU, Health-F5-2008-201335, NANOtest - Alternative testing strategies for the assessment of the

toxicological profile of nanoparticles used in medical diagnostics (2008-2012)• VEGA 01/0715/11: Molecular and genetic diagnosis of nephrotic syndrome in children (2012-2014)• VEGA 1/0172/14: Saliva as a potencial diagnostic fluid in monitoring of ocidative and carbonyl stress in relation

to cardiovascular risk in children with chronic nephropaties (2014 - 2016)• VEGA 1/0613/17: Early diagnosis of osteoporosis in children and adolescents with mental anorexia (2017-2019)

Plans for future research• Analysis of salivary markers of renal functions• Pathogenesis of complications of renal insufficiency• Non-invasive measurement of advanced glycation end-products (AGEs)• Metabolic consequences of renal diseases• New potential biomarkers of detecting kidney damage prior to the currently used markers

Devices and methods• Salivary diagnostics in nephrology• Non-invasive measurement of oxidative and carbonyl stress• AGE reader for skin autofluorescence• Metabolic cages for urine collection from experimental rodents• Experimental models of renal diseases

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Selected publications• Chromek M, Slamová Z, Bergman P, Kovács L, Podracká L, Ehrén I, Hökfelt T, Gudmundsson GH, Gallo RL, Agerberth B,

Brauner A. The antimicrobial peptide cathelicidin protects the urinary tract against invasive bacterial infection. Nat Med 2006; 12: 636-41.

• Šebeková K, Eifert T, Klassen A, Heidland A, Amann K. Renal Effects of S18886 (Terutroban), a TP Receptor Antagonist, in an Experimental Model of Type 2 Diabetes. Diabetes 2007; 56: 968-74.

• Boor P, Šebekova K, Ostendorf T, Floege J. Treatment targets in renal fibrosis. Nephrol Dial Transplant 2007; 12: 3391-407.• Šebeková K, Somoza V, Jarčušková M, Heidland A, Podracká Ľ. Plasma advanced glycation end products are decreased obese

children compared with lean controls. Int J Pediatr Obes 2009; 4: 112-8.• Behunova J, Klimcakova L, Zavadilikova E, Potocekova D, Sykora P, Podracka L. Methylenetetrahydrofolate Reductase Gene

Polymorphisms and Neural Tube Defects Epidemiology in the Slovak Population. Birth Defects Res A Clin Mol Teratol 2010; 88: 695-700.

• Hedvig J., Podracka L., Potocekova D. Elevated Brain Natriuretic Peptide Is Associated with Abnormal Heart Geometry in Children with Chronic Kidney Disease. Kidney Blood Press Res 2010; 33: 87-93.

• Rusai K, Banki NF, Prokai A, Podracka L, Szebeni B, Tulassay T, Reusz GS, Sallay P, Koermendy R, Szabo AJ, Fekete A. Heat Shock Protein Polymorphism Predisposes to Urinary Tract Malformations and Renal Transplantation in Children. Transplant Proc 2010; 42: 2309-11.

• Behunova J, Klimčaková L, Podracká Ľ. Urinary ract Anomalies Associated with MTHFR Gene Polymorphism C677T in Girls. Kidney Blood Press Res 2011; 34: 465-71.

• Boor P, Celec P, Martin IV, Villa L, Hodosy J, Klenovicsova K, Esposito C, Schafer S, Albrecht-Kupper B, Ostendorf T, Heidland A, Sebekova K. The peroxisome proliferator-activated receptor-™ agonist, BAY PP1, attenuates renal fi brosis in rats. Kidney International 2011; 80: 1182-97.

• Šebeková K, Klenovicsová K, Ferenczová J, Hedvig J, Podracká L, Heidland A. Advanced oxidation protein products and advanced glycation end products in children and adolescents with chronic renal insufficiency. J Ren Nutr 2012; 22: 143-8.

• Celec P, Gardlik R, Sebekova K. The effects of antiinfl ammatory and anti-angiogenic DNA vaccination on diabetic nephropathy in rats. Hum Gene Ther 2012; 23: 158-66.

• Šebeková K, Ramuscak A, Boor P, Heidland A, Amann K. The Selective TP Receptor Antagonist, S18886 (Terutroban), Attenuates Renal Damage in the Double Transgenic Rat Model of Hypertension. Am J Nephrol 2008; 28: 47-53.

• Simon Klenovics K, Kollárová R, Hodosy J, Celec P, Sebeková K. Reference values of skin autofluorescence as an estimation of tissue accumulation of advanced glycation end products in a general Slovak population. Diabet Med 2014; 31: 581-5.

• Kolvek G, Podracka L, Rosenberger J, Stewart RE, van Dijk JP, Reijneveld SA. Solitary Functioning Kidney in Children - A Follow-Up Study. Kidney Blood Press Res 2014; 39: 272-8.

• Čižmáriková M, Podracká Ľ, Klimčáková L, Habalová V, Boor A, Mojžiš J, Mirossay L. MDR1 Polymorphisms and idiopathic Nephrotic Syndrome in Slovak Children: Preliminary Results. Med Sci Monit 2015; 21: 59-68.

• Yung Gee H, Zhang F, Ashraf S, Kohl S, Sadowski EC, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu J, Hoefele J,Weber LT, Podracka L, Boor A, Fehrenbach H, Jeffrey WI, Washburn J, Levy S, Lifton R, Edgar A, Han Z, Hildebrandt F. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. Clin Invest 2015; 125: 2375–84.

• Krischock LA, van Stralen KJ, Verrina E, Tizard EJ, Bonthuis M, Reusz G, Hussain FK, Jankauskiene A, Novljan G, Spasojević-Dimitrijeva B, Podracka L, Zaller V, Jager KJ, Schaefer F; ESPN/ERA-EDTA Registry. Anemia in children following renal transplantation-results from the ESPN/ERA-EDTA Registry. Pediatr Nephrol 2016; 31: 325-33.

• Bonthuis M, Busutti M, van Stralen KJ, Jager KJ, Baiko S, Bakkaloğlu S, Battelino N, Gaydarova M, Gianoglio B, Parvex P, Gomes C, Heaf JG, Podracka L, Kuzmanovska D, Molchanova MS, Pankratenko TE, Papachristou F, Reusz G, Sanahuja MJ, Shroff R, Groothoff JW, Schaefer F, Verrina E. .Mineral metabolism in European children living with a renal transplant: a European society for paediatric nephrology/european renal association-European dialysis and transplant association registry study. Clin J Am Soc Nephrol 2015; 10: 767-75.

• Celec P, Tóthová Ľ, Šebeková K, Podracká Ľ, Boor P. Salivary markers of kidney function - Potentials and limitations. Clin Chim Acta 2016; 453: 28-37.

• Tothova L, Babickova J, Borbelyova V, Filova Barbora, Sebekova K, Hodosy J: Chronic renal insufficiency does not induce behavioral and cognitive alteration in rats. Physiol Behav 2015; 138: 133-40.

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S. Bioenergetics and anti-oxidative systems

InvestigatorsProf. Anna Gvozdjáková, RNDr, DSc ([email protected])Jarmila Kucharská, PharmDr, PhDOľga Uličná, RNDr, PhDOľga Vančová, MEngZuzana Sumbalová, RNDr, PhDZuzana Rausová, MSc, PhDAssoc. Prof. Viliam Mojto, MD, PhD, MHA

Grants and Funding (in the last 10 years)• VEGA 1/3442/06: Study of damage of bioenergetics and anti-oxidative systems in organism in selected diseases:

pharmacological and non-pharmacological approaches in therapy (2006-2008)• APVV-51-017905: Molecular mechanisms of effects of new drugs affecting oxidative stress - the role of

etiopathogenetic factors of various diseases (2006-2008)• VEGA 2/0173/08: Activation of cellular signaling pathways and transcription factors during adaptation processes in

myocardium as alternative approach in protection against ischemia (2008-2010)• VEGA 2/0090/08: New pharmacological approaches for modulation of rheumatoid arthritis studied on model of

adjuvant arthritis (2008-2010)• VEGA 2/6148/27: Mechanisms of indapamine effect in prevention and therapy of experimental hypertension and

organs damage (2006-2008)• VEGA 1/3429/06: Modification of hypertrophy an heart failure in NO (nitric oxide)-deficient hypertension by

melatonin (2006-2008)

Plans for future research• New diagnostic methods for determination of mitochondria features in isolated thrombocytes and lymphocytes

in patients with different alteration of mitochondria• Build up unit of Mitochondrial Medicine

Devices and methods• Oxygraph-2k (Oroboros Instruments) high resolution respirometry enabling to measure parameters of

mitochondrial respira¬tion and complexes of respiratory chain of mitochondria• Oxygraph 5/6 H Gilson enabling measurement of parameters of oxidative phosphorylation in mitochondria• High-performance liquid chromatograph with programmed UV detector• Programmed UV-VIS spectrophotometer Biochrom 4060• Cooled centrifuges

Selected publications• Gvozdjáková A. Mitochondrial Medicine: Mitochondrial metabolism, Diseases, Diagnosis and Therapy, Springer, Netherlands

2008; 409 pp.• Sumbalová Z, Kucharská J, Kristek F. Losartan improved respiratory function and coenzyme Q content in brain mitochondria

of young spontaneously hypertensive rats. Cell Mol Neurobiol 2010; 30: 751-8.• Vančová O, Bačiak L, Kašparová S, Kucharská J, Palacios H, Horecký J, Aliev G. In vivo and in vitro assessment of brain

bioenergetics in aging rats. J Cell Mol Med 2010; 14: 2667-74.• Labienec M, Ulicna O, Vancova O, Kucharska J, Gabryelak T, Watala C. Effect of poly(amido)amine (PAMAM) G4 dendrimer

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METABOLIC, ENDOCRINE, AND INFLAMMATORY DISEASES | 99

on heart and liver mitochondria in an animal model of diabetes. Cell Biol Int 2010; 34: 89-97.• Kucharska J, Ulicna O, Gvozdjakova A, Vancova O, Waczulikova I, Bozek P, Bada V. Effects of atorvastatin on heart

mitochondrial function and coenzyme Q content in the experiment. Bratisl Med J 2011; 112: 603-4.• Horecký J, Gvozdjáková A, Kucharská J, Obrenovich ME, Palacios HH, Li Y, Vančová O, Aliev G. Effects of coenzyme Q and

creatine supplementation on brain energy metabolism in rats exposed to chronic cerebral hypoperfusion. Current Alzheimer Research 2011; 8: 868-75.

• Uličná O, Vančová O, Waczulíková I, Božek P, Šikurová L, Bada V, Kucharská J. Liver mitochondrial respiratory function and coenzyme Q content in rats on a hypercholesterolemic diet treated with atorvastatin. Physiol Res 2012; 61: 185-93.

• Gvozdjáková A, Mravec B, Kucharská J, Lackovičová Ľ, Ondičová K, Tkačov M, Singh RB. Increased ubiquinone concentration after intracerebrovascularly-administered ubiquinol to selected brain regions. Gen Physiol Biophys 2012; 31: 469-72.

• Ferko M, Kancirová I, Jašová M, Čárnická S, Muráriková M, Waczulíková I, Sumbalová Z, Kucharská J, Uličná O, Ravingerová T, Ziegelhoffer A. Remote ischemic preconditioning of the heart: Protective responses in functional and biophysical properties of cardiac mitochondria. Physiol Res, 2014; 63: S469-78.

• Gvozdjáková A, Mikulecký M, Crane FL, Kucharská J, Cornelissen G, Kumar A, Palacka P, Singh RB. Mitochondrial cardiomyopathy and coenzyme Q10. World Heart J 2014; 6: 29-46.

• Krumschnabel G, Fontana-Ayoub M, Sumbalova Z, Heidler J,Gauper K, Fasching M, Gnaiger E. Simultaneous high-resolution measurement of mitochondrial resiration and hydrogen peroxide production In: Mitochondrial Medicine Volume 1: Probing Mitochondrial Function. New York: Springer 2015; 245-61.

• Dobiáš L, Petrová M, Vojtko R, Uličná O, Vančová O, Kristová V. Effect of sulodexide on vascular responses and liver mitochondrial function in diabetic rats. Physiol Res 2015; 64: S497-505.

• Volkovova K, Handy RD, Staruchova M, Tulinska J, Kebis A, Pribojova J, Ulicna O, Kucharska J, Dusinska M. Health effects of selected nanoparticles in vivo: Liver function and hepatotoxicity following intravenous injection of titanium dioxide and Na-oleate-coated iron oxide nanoparticles in rodents. Nanotoxicology 2015; 9: 95-105.

• Ferko M, Kancirová I, Jašová M, Waczulíková I, Čarnická S, Kucharská J, Uličná O, Vančová O, Muráriková M, Ravingerová T, Ziegelhöffer A. Participation of heart mitochondria in myocardial protection against ischemia/reperfusion injury: benefit effects of short-term adaptation processes. Physiol Res; 64: S617-25.

• Gvozdjáková A, Kucharská J, Vančová O, Uličná O, Mojto V, Singh RB, Cornelissen G. Mitochondrial coenzyme Q and oxidative phosphorylation in brain and myocardium of control and diabetic rats. World Heart J 2015; 7: 119-29.

• Mikulecký M, Gvozdjáková A, Kucharská J, Mojto V, Mikulecký M, Singh RB, Cornelissen G. Are mitochondrial energetics in the rat under control of the solar (24 hours) and/or lunar (24.8 hours) day? World Heart J 2015; 7: 119-27.

• Kancirová I, Jašová M, Muráriková M, Sumbalová Z, Uličná O, Ravingerová T, Waczulíková I, Ziegelhöffer A, Ferko M. Cardioprotection induced by remote ischemic preconditioning preserves the mitochondrial respiratory function in acute diabetic myocardium. Physiol Res 2016; 65: S611-9.

• Gvozdjáková A, Kucharská J, Singh RB, Vančová O, Uličná O, Mojto V, Fedačko J, Pella D, Verma NS, Cornélissen G. Statin-induced mitochondrial dysfunction and targeting coenzyme Q10 therapy. World Heart J 2016; 8: 171-81.

• Gvozdjáková A. Mitochondrial Medicine and Coenzyme Q10. Herba Bratislava 2017; 228 pp.

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