UW Objectives

8/18/2019 UW Objectives

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ANATOMY-Musculoskeletal

The radial nerve is responsible for extension of the hand Damage to the radial nerve results inwrist drop

The musculocutaneous nerve innervates the flexor muscles of the upper arm and providessensory innervation to the lateral forearrn The musculocutaneous nerve is derived from the uppertrunk of the brachial

The musculocutaneous nerve innervates the flexor muscles of the upper arm and providessensory innervation to the lateral forearm The musculocutaneous nerve is derived from the uppertrunk of the brachial plexus and can be injured by forceful injuries that cause separation of theneck and shoulder

Muscles used when sitting up from the supine position include the external abdomirSc frd

abdominis, and the hip flexors The ihopsoas muscle is the most important of the hip fiexors andinctudes the psoas major, psoas minor, and iliacus The rectus femoris. sartorius, tensor fascialata, and the medial compartment of the thigh also conthbute to hip flexion

Flattening of the deftoid muscle after a shoulder injury suggests anterior shoulder dislocationThis injury most commonly results from forceful external rotation and abduction at the shoulder joint. Axillary nerve injury, resulting in deltoid paralysis and loss of sensation over the lateralarm, is often associated.

The most commonly injured structure in rotator cuff syndrome is the tendon of the supraspinatusmuscle. Because the supraspinatus is an abductor of the humerus, injury to its tendon causes pain

on abduction of the arm

Injections given in the superomedial part of the buttock risk injury to the gluteal nerves:Injections given in the inferomedial part of the buttock risk injury to the sciatic nerve Thesuperolateral quadrant of the buttock is a safe site for intramuscular injections.

Lesions of the femoral nerve can occur due to trauma. nerve compression. stretch Injury, orischemia Patients develop weakness of the quadriceps muscle, loss of the patellar reflex, and lossof sensation over the anterior and medial thigh and medial leg.

The median nerve courses between the humeral and ulnar heads of the pronator teres muscle and

then runs between the flexor digitorum superficialis and the flexor digitorum profundus musclesbefore entering the wrist and hand within the carnal tunneL

The supraspinatus muscle assists in abduction of the arm and stabilization of the glenohumeral joint The most commonly injured structure in rotator cuff syndrome is the tendon of thesupraspinatus muscle This tendon is vulnerable to injury due to impingement between theacromion and the hemurus


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Trauma or sustained pressure to the neck of the fibula can cause injury to the common peronealnerve as it courses superficially and laterally to this structure

The tibial nerve innervates the flexors of the lower leg. the extrinsic digital flexors of the toes,and the skin of the sole of the foot.

1) Injury to the superior gluteal nerve causes weakness of the gluteus medius and gF’.iI$ceenWridow Sq Shapeproducing a positive Trendelenburg tea2) The inferior gluteal nerve innervates the gluteus maximus muscle Injury of the inferior glutealnerve causesdifficuLty rising from the seated position and climbing stairs

The deep brachial artery and radial nerve course along the posterior aspect of the humerusMdshaft fractures of the humerus risk injury to these structures. Supracondylar fractures areassociated with injury to the brachial artery

The posterior cruciate ligament prevents posterior displacement of the tibia relative to the femurIt originates from the anterolateral surface of the medial femoral condyle and inserts into theposterior intercondylar area of the tibia Its integrity can be tested in the clinical setting by usingthe posterior drawer test

The psoas muscle originates from the anterior surface of the transverse processes and lateralsurface of the corresponding vertebral bodies T12-L5 The psoas muscle acts primarily to flex thethigh at the hip It contributes somewhat to lateral rotation and abduction of the thigh as well

The anterior cruciate ligament (ACL) can be damaged by forceful anterior motion of the tibiawith respect to the femur.

Ulnar nerve injury classically causes a “claw hand” deformity. The ulnar nerve can be IrIjUreCteither near the medial epicondyle of the humerus or in Guyon’s canal near the hook of thehamate and pisiform bone in the wrist.

Sudden upward stretc[ng on the arm at the shoulder can damage the lower trunk of the brachialplexus. This trunk carries nerves from the C8 and Ti spinal levels that ultimately form themedian and ulnar nerves These nerves innervate all of the inthnsic muscles of the hand.

Mastectomy is a commonly tested cause of long thoracic nerve injury, but any trauma or surgeryin the axitfary region is at risk of damaging this nerve. Injury to this nerve causes winging of thescapula and inability to abduct the shoulder past 90 degrees.

The common peroneal nerve is vulnerable to injury where it courses around the nec F. creWi - Scneck fractures can lesion this nerve, causing weakness of dorsiflexion (deep peroneat nerve) andeversion (superficial peroneal nerve) of the foot as well as loss of sensation over the dorsum ofthe foot. Inversion and plantarfiexion would remain intact due to the action of the tibial nerve.


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Radial head subluxation (nursemaid’s elbow) results from sudden traction on the outstretchedand pronated arm of a child Affected children are usually in little distress unless attempts aremade to move the elbow. The annular ligament is torn and displaced in this injury

A femoral neck fracture can damage the blood supply to the femoral head and necic This is most

common with displaced fractures. The medial femoral circumflex artery provides the majority ofthe blood supply to the femoral head and neck injury to this vessel can cause avascular necrosisof the femoral hea&

The lunate bone can be identified on a hand X-ray as the more medial of the two carpal bonesthat articulate with the radius. It lies immediately medial to the scaphoid bone.

Common peroneal nerve injury as it traces the lateral aspect of the fibular neck is common Bonyfracture and compression are the most common causes. Clinically this manifests as foot drop.

The sternocleidornastoid muscle originates on the medial clavicle and manubrium and inserts on

the mastoid process of the skull. It is innervated by CN Xl and functions to turn the head in theopposite direction.

The serratus anterior muscle serves to fix the scapula against the posterior chest watt and rotatethe scaputa to allow abduction of the arm over the head Paralysis of this muscle occurs withinjury to the long thoracic nerve and results in winging of the scapula.

The Valsalva maneuver increases vagal tone and can be used to abolish paroxysmalsupraventncular tachycardia. The rectus abdominis is the most important muscle in achieving theincreased intraabdominal and intrathoracic pressure of the Valsalva maneuver.

The obturator nerve is the only major nerve that exits the peMs through the obturatorforamenThis nerve supplies the muscles of the medial (adductor) compartment of the thigh and can bedamaged dunng pelvic surgery, especially in procedures such as lymph node dissection

The posterior cruciate ligament prevents anterior displacement of the femur relative to the tibiawhen the knee is flexed. It attaches to the posterior part of the intercondylar area of the tibia andthe anterior part of the lateral surface of the medial epicondyle of the femur.

Fall on an outstretched hand may cause fracture of the scaphoid bone Examinationanatomical snuff box The scaphoid bone is vulnerable to avascular necrosis and nonuñian due toas tenuàii blood supply

Repeated and prolonged kneeling can cause prepatellar bursitis Dubbed housemacfs kne&’ todayit is most commonly seen in roofers, carpenters and plumbers Signs and symptoms of prepatellarbursitis include knee pain, erythema. swelling and inability to kneel on the affected side

Improperly fitted crutches can cause radial nerve injury, resulting in weakness of all forearm,wrist and finger extensors (“wristdrop”).


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ANATOMY-Neurology

The ventromedial hypothalamic nuclei contain the satiety center and regulate food intakeLesions of the ventromedial nuclei result in obesity secondary to hyperphagia as well as

aggressive, savage behavior

The third branch of the trigerninal nerve (CN V3) exits the skull through the foramen ovale andinnervates the muscles of mastication. including the masseter. the medial and lateral pterygoids,and the temporalis muscles.

Trochlear nerve palsy is charactenzed by vertical diplopia

Common peroneal nerve injury is common and typically results from trauma to the leg near thehead of the fibula Signs include foot drop and a characteristic high-stepping gait

The posterior cerebral artery branches off the basilar artery and supplies cranial nerves Ill and IVand other structures in the midbrain It also supplies the thalamus, mesial temporal lobe, spleniumof the corpus callosum, parahippocampal gyrus, fusiform gyms, and occipital Iobe

The combination of fixed segmental loss of upper extremity pain and temperature sensation,upper extremity lower motor neuron signs, and/or lower extremity upper motor neuron signs inthe setting of scoliosis suggests a diagnosis of syringomyelia.

Lesions of the glossopharyngea nerve result in loss of the gag reflex (afferent limb), loss ofsensation in the upper pharynx, posterior tongue. tonsils. and middle ear cavity, and loss of tastesensation on the posterior one-third of the tongue

The third cranial nerve (oculomotor) carrying general somatic efferent fiber and general visceralefferent parasympathetic fiber exits the midbrain and courses between the posterior cerebral andsuperior cerebellar arteries. An aneurysm arising from either artery can lead to a non—pupil-sparing third nerve palsy, which clinically presents with unilateral headache, eye pain, diplopia.dilated nonreactive pupil, and ptosis with the ipsilateral eye in a down and out position.

The tight junctions between endothelial cells in the capillary beds of the CNS form the blood-brain barrier Solutes and fluids cannot move freely across the capillary membrane in the CNSmaterial can only move transcellularly by diffusing across the epithehal plasma membranes or bycarrier-mediated transport

The thalamic syndrome is characterized by total sensory loss on the contralateral skie of the bodyAlthough there are no motor deficits, proprioception is often profoundly affected and may lead todifficulty ambulating and falls.

Lacunar infarctions are the result of small vessel lipohyalinosis and atherosclerosis invoMng thepenetrating vessels supplying the deep brain structures Uncontrolled hypertension and diabetesmellitus are risk factors for this condition


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Neurofibromatosis Type I (NFl. or von Recklinghausens disease) is a common autosomal-dominant disorder resulting from a defect in the NF-l gene on chromosome 17. Cutaneous andsubcutaneous neurofibromas are common in this condition and are tumors of Schwann celIswhich are embryologicalty derived from the neural crest.

Upper motor neuron lesions cause spastic rigidity, hyperreflexia. and paresis Corticospinal tract,internal capsule (posterior limb), and primary motor cortex lesions can cause these symptoms

Injury to Meyer’s loop in the temporal lobe results in contralateral superior quadrantanopia

A lesion in Wemicke’s area can cause receptive aphasia. which is characterized by well-articulated, nonsensical speech paired with a lack of language comprehension (Wemicke-Wordsalad) Wemicke’s area is located in the auditory association cortex within the posterior portion ofthe superior temporal gyrus in the dominant temporal lobe. The middle cerebral artery suppliesBroca’s area (superior division) and Wernicke’s area (inferior division).

The deep branch of the radial nerve arises near the lateral epicondyle of the humerus, where thehumerus articulates with the head of the radius Radial head subluxation can damage the deepbranch of the radial nerve, causing weakness of the forearm and hand extensors but no sensorydeficits

All sensory pathways except olfaction (smell) have relay nuclei in the thaIamus The VPLreceives impulses from spinothalamic and medial lemniscus pathways, the VPM from thetngeminal and gustatory pathways, and the lateral and medial geniculate bodies are relay nucleifor the visual and auditory pathways, respectively

The vagus nerve provides some cutaneous sensation to the posterior external auditory canal viaits small auricular branch Sensation to the rest of the canal is from CN V3 A vasovagal syncopalepisode results from stimulation of the vagus nerve, leading to a decrease in blood pressure andheart rate

The afferent limb of the light reflex pathway is the optic nerve: the efferent limb is theparasympathetic fibers ofthe oculomotor nerve. When an optic nerve is damaged. light in that eye will cause neither pupilto constrict(the nerve can’t sense the light). However, light in the contralateral eye will cause both pupils toconstrict(because the motor pathways are intact).

Lesions involving CN Ill cause ptosis. a downward and laterally deviated eye, impaired pupillaryconstriction and accommodation, and diagonal diplopia The most dreaded cause of CN Ill palsyis an enlarging intracranial aneurysm.

A lesion in the optic tract can produce contralateral homonymous hemianopia and a relativeafferent pupillary defect (Marcus Gunn pupil) in the contralateral eye.


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The stapedius muscle is innervParalysis of the stapedius musclsensitivity to sound (hyperacusis

Hydrocephalus in infants preseand enlarged ventricles on CTspasticity due to stretching oflearning disabilities.

General features that aid in locaa More proximal levels have inca Lower cervical and lumbosacra Thoracic and early lumbar sect

General features that aid in local

a More proximal levels have inca Lower cervical and lumbosacra Thoracic and early lumbar sect

The head of the caudate lies in tis separated from the globusatrophied in Huntington’s diseas

Neonatal intraventncular hemorrin frequency with decreasing agthat can lead to long-term neuro

CSF flows from the third ventric

Sciatica is a painful condition cthat typically results from impicolumn. Compression of the Sileg as well as diminution of the

Thiamine (ie., vitamin B1)defici

leads to Korsakoff psychosis.Wernicke encephalopathy is theor malnourished patients shintravenous dextrose administprecipitate a Wemicke encephaI

ted by the stapedius nerve, a branch of faciae allows wider oscillation of the stapes. and l)

ts with irritability, poor feeding. increased heLong-term sequelae of hydrocephalus includethe periventncular pyramidal tracts, visual

zing a transverse spinal cord section:easing amounts of white matter and more ovoil regions have large ventral hornsions (Ti -L2) contain lateral grey matter horns

izing a transverse spinal cord section:

easing amounts of white matter and more ovoil regions have large ventral hornsions (T1-L2) contain lateral grey matter homs

e inferolateral wall of the anterior horn of the lallidus and putamen by the internal capsule..

hage usually occurs in the fragile germinal mate and birth weight It is a common complicatievelopmental impairment.

le to the fourth ventricle via the cerebral aqued

haracterized by shooting pain down the posterngement of one of the spinal nerves as it leaoot results specifically in pain purely in the pnkle jerk reflex.

ency acutely leads to Wemicke encephalopath

he neural structure most frequently affectedmammillary body, which is part of the Papezuld receive intravenous thiamine suppleation because giving dextrose without pripathy

nerve (CN Vll)ads to increased

d circumferencelower extremityisturbances, and

sections

sections

ateral ventricle ItThe caudate is

rix and increasesn of prematurity

ct of Sylvius.

ior thigh and legves the vertebralsterior thigh and

and chronically

in patients withcircuit Alcoholicentation beforer thiamine can


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General sensation from the antertrigeminal nerve Gustatory inntympani branch of the facial

The first arch can be poorly

syndrome. Abnormalities incluzygoma, vorner, palate, and tem

Wilson’s disease can cause cystiganglia structures. The putamenon coronal sections.

Meningiomas are located adjacontralateral spastic paresis of th

Motor (Broca) aphasia is a non

inferior frontal gyrus of the dproperly formulate the motor cowith short agrammatic phrases.into their aphasia and are often f

Saddle anesthesia and loss of thwhich is associated with damage

Ulnar nerve injury causes sensati

Sensorineural heanng loss. tinnitthe involvement of CN V, Vii, atumor of the cerebeliopontine an

Acute nausea following adminis

chemoreceptor trigger zone (CTfourth ventricle.

ior 2/3 of the tongue is carñed by the mandibulrvation of anterior 2/3 of the tongue is pro

ormed during embryonic development result

de malformation of the mandible. maxilla.oral bone. The first arch is associated with the

c degeneration of the putamen as well as damis located medial to the insula and lateral to th

ent to the cerebral surface, Parasagittal mee leg due to compression of the leg-foot motor

fluent aphasia that results from damage to Br

minant hemisphere. Patients understand langmands to form words or write. Speech is sloword-finding difficulty is often prominent Pati

ustrated by it.

anocutaneous reflex are symptoms of caudato the S2 through S4 nerve roots

on loss to the medial 11/2 digits of the hand.

us. paralysis of facial muscles, and loss of comnd Viii. Simultaneous compression of these negle. which are most commonly acoustic neurom

ration of systemic chemotherapy results from s

), which lies in the area postrema of the dorsal

ar division of thevided by chorda

ing in first arch

malleus, incus,rigeminal nerve.

ge to other basale globus pallidus

ningiomas causerea

oca’s area in the

uage but cannotand fragmented,ents have insight

quina syndrome,

eal reflex signifyves is caused byas

timulation of the

medulla near the


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ANATOMY-Rest-1

The right testicular vein drains directly into the IVC while the left testicular vein drains into theleft renal vein.

The proximal 1/3 of the ureter receives its blood supply from branches of the renal artery For thisreason, this portion of the donor ureter is typically viable after renal transplantation

Conductive hearing loss (bone conduction > air conduction): abnormal Rinne test (in affectedear) and Weber test localizes to affected earSensorineural hearing loss (air conduction> bone conduction): normal Rinne test and Weber testlocalizes to unaffected ear.

The oculomotor nerve (ON Ill), ophthalmic nerve (CN V1) branches, trochlear nerve (ON IV),abducens nerve (ON VI), and superior ophthalmic vein enter the orbit via the superior orbitalfissure

The gastroduodenal artery lies along the posterior wall of the duodenal bulb and is likely to beeroded by posterior duodenal ulcers Ulceration into the gastroduodenal artery can be a source oflife-threatening hemorrhage.

Aneurysm or atherosclerotic calcification of the internal carotid artery can laterally impinge onthe optic chiasm. This can cause nasal hemianopia by damaging uncrossed optic nerve fibersfrom the temporal portion of the ipsilateral retina.

Indirect inguinal hernias are located lateral to the inferior epigastric vessels They can continueinto the scrotum and are felt by deep palpation of the external inguinal ring with the tip of thefinger In contrast, direct inguinal hernias are located medially to the inferior epigastric vessels.They do not protrude into the scrotum and are best felt with the pulp of the flnger

All skin from the umbilicus down. including the anus (up to the dentatelpectinate line) butexcluding the posterior calf, drains to the superficial inguinal lymph nodes

The spleen is not a gut denvative: it forms from the mesodermal dorsal mesentery The splenicartery, however, is a branch of the celiac trunk (the primary blood supply of the foregut)

Cncothyrotomy is indicated when an emergency airway is required and orotracheal ornasotracheal intubation is either unsuccessful or contraindicated The cricothyrotomy incisionpasses through the superficial cervical fascia. pretracheal fascia, and the cncothyroid membrane

In addition to unilateral facial paralysis, patients with Bells palsy may experience decreasedtearing, hyperacusis, and/or loss of taste sensation over the anterior two-thirds of the tongue


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Blunt trauma to the globe can cause orbital blowout fractures. These fractures most commonlyinvolve the medial or inferior orbital walls, because the bone bordenng the ethmoid andmaxillary sinuses is thin.

Superior mesentenc artery syndrome occurs when the transverse portion of the duodenum is

entrapped between the SMA and aorta, causing symptoms of partial intestinal obstruction Thissyndrome occurs when the aortomesentenc angle critically decreases, secondary to diminishedmesenteric fat, pronounced lordosis, or surgical correction of scoliosis.

On abdominal CT scans, the pancreas can be identified by its head in close association with thesecond part of the duodenum by its body overlying the left kidney, aorta. IVC and superiormesenteric vessels; and also by the tail lying in the splenorenal ligament.

The recurrent laryngeal nerve travels in close approximation to the inferior thyroid artery and canbe injured in surgical procedures of the anterior neck (e.g thyroidectomy), resulting in laryngealmuscle paralysis, hoarseness and dyspnea.

The left gonadal (testicular or ovarian) vein drains into the left renal vein. commonly leading toleft-sided vancoceles in males with obstructions of the left renal vein The right gonadal veindrains directly into the inferior vena cava

The nerves and vessels supplying the ovary are delivered through the suspensory ligament of theovary.

Gallstone ileus results from the passage of a large gallstone (typically greater than 25 cm)through a cholecystenteric fistula into the small bowel where it ultimately causes obstruction atthe ileocecal valve. Gas is seen within the gallbladder and biliary tree on abdominal X-ray due tothe presence of the fistula, and patients present with signs and symptoms of small bowelobstruction.

The brachiocephalic vein drains the ipsilateral jugular and subclavian veins. The bilateralbrachiocephalic veins combine to form the SVC. Brachiocephalic vein obstruction causessymptoms similar to those seen in SVC syndrome, but on just one side of the body.

The lesser omentum is a double layer of peritoneum that extends from the liver to the lessercurvature of the stomach and the beginning of the duodenum it is divided into the hepatogastncand hepatoduodenal ligaments

Femoral hernias are inferior to the inguinal ligament lateral to pubic tubercie, and medial to thefemoral vein. They can present with groin discomfort or manifest with a bulge on the upper thighIncarceration and strangulation are common complications of fernoral hernias

The esophagus is located between the trachea and the vertebral bodies in the superior thorax It istypically collapsed with no visible lumen on CT images of the chest


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Injury to the posterior urethra is associated with pelvic fracture whereas anterior urethral injurymost commonly occurs in straddle injuries Inability to void with a sensation of a full bladder, ahigh riding boggy prostate, and blood at the urethral meatus are all suggestive of urethral injuryparticularly in the presence of a pelvic fracture. A retrograde urethrogram should be performedbefore Foley catheter placement if there is concern for a urethral injury

The hindgut encompasses the distal 113 of the transverse colon, the descending colon, thesigmoid colon, and the rectum These structures receive their main arterial blood supply from theinferior rnesentenc artery

Direct hernias occur most commonly in older men and are caused by weakness of thetransversalis fascia in Hesselbach’s triangle They are medial to the inferior epigastric vessels,protrude only through the external inguinal ring, and are covered by the external spermatic fascia

In cirrhosis, portal hypertension arises from increased resistance to portal flow at the hepaticsinusoids This causes increased pressure in the portosystemic collateral veins within the lower

end of esophagus, anterior abdomen, and lower rectum Dilation of these collaterals is responsiblefor the esophageal varices, caput medusae, and hemorrhoids commonly seen in cirrhotic patients

The middle meningeal artery is a branch of the maxillary artery that enters the skull at theforamen spinosum and courses intracranially deep to the pterion. Skull fractures at this site maycause laceration of this vessel, leading to an epidural hematoma

A branch of the mandibular division of the tngerninal nerve (CN V3) provides somatic sensoryinnervation to the anterior 2/3 of the tongue. The chorda tympani branch of the facial nerveprovides taste sensation from the anterior 2/3 of the tongue. The glossopharyngeal nerve (CN IX)provides somatic sensory and taste innervation to the posterior portion of the tongue.

Cardiovascular dysphagia can result from pressure on the esophagus by a dilated left atrium Theleft atrium is commonly enlarged in patients with mitral stenosis and left ventricular failure

The great majority of gastric ulcers occur over the lesser curvature of the stomach, at the borderbetween acid-secreting and gastnn-secreting mucosa The left and right gastric arteries run alongthe lesser curvature and are likely to be penetrated by ulcers. causing gastric bleeding.

Testicular hydrocele results when serous fluid accumulates within the tunica vaginalis. Thetunica vaginalis is embryologically derived from the peritoneum, when it remains incommunication with the peritoneum, a communicating hydrocele results.

Retroperitoneal hematoma in a stable patient is likely to occur due to pancreatic injury It maypresent with mild symptoms, be asymptomatic or be masked by symptoms from other injuriesrelated to trauma Abdominal CT is the diagnostic modality of choice. Frequently nonexpandinghematomas in this location will be treated conservatively (ie. non-operatively)


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Due to its intra-abdominal originodes. In contrast, lymph drainnodes

The pupillary light reflex is asse

eye (direct) and the opposite eafferent limb of the pupillary refferent limb

Low-frequency sound is best dfrequency sound is best detected

The external branch of the superto its proximity to the superiormuscle

The splenic artery originates froand pancreas (pancreatic, shortthe spleen Due to poor anastovulnerable to ischemic injury fol

BPH is a common, age-relatedtreated with aa drenergic blockthe pubic symphysis and the ana

The third part of the duodenumcava at the level of the third luprocess of the pancreas and the s

Prolonged exposure to loud noicells of the organ of Corti

ANATOMY-Rest-2

In horseshoe kidney, both kidn

isthmus of horseshoe kidney usuto the inferior mesentenc arterinferior mesentenc artery during

The inferior vena cava is formelevel of L4-L5. The renal arteriefrom the lower extremities, portthe heart

n. lymphatic drainage of the testis is to the p age from the scrotum goes into the superficia

sed by shining light in an eye and observing th

e (consensual). The optic nerve (CN U) is reflex, and the oculomotor nerve (CN Ill) is re

tected at the apex of the cochlea near the hat the base of the cochlea near the oval and rou

ior laryngeal nerve is at risk of injury during ththyroid artery and vein This nerve innervates

the celiac artery and gives off several branchgastric, and left gastroepiploic arteries) beforeoses. the gastric tissue supplied by the shortlowing splenic artery blockage

condition that causes urinary symptoms andrs or 5-ci reductase inhibitors. The prostate iscanal in inferior sections of the pelvis on CT s

ourses horizontally across the abdominal aortabar vertebra. Here it is in close association

uperior mesentenc vesse1s

es causes hearing loss due to damage of the s

ys are fused together at the poles in early em

ally lies anterior to the aorta and inferior vena cThis centrally located isthmus becomes tra

the relative ascent of the kidney

d by the union of the right and left commons and veins lie at the level of Li. The IVC retul system and abdominal and pelvic viscera to t

ara-aortic lymphl inguinal lymph

response in that

ponsible for theponsible for the

licotrema High- d windOws.

yroidectomy duethe cricothyroid

s to the stomachfinally reachingastric arteries is

an be medicallylocated betweenan.

and inferior venaith the uncinate

tereociliated hair

bryonic Iife The

ava and posteriorpped behind the

iliac veins at therns venous bloode right atrium of


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The inferior vena cava is formed by the union of the right and left common iliac veins at thelevel of L4-L5. The renal arteries and veins lie at the level of Li The IVC returns venous bloodfrom the lower extremities, portal system and abdominal and pelvic viscera to the right atrium ofthe heart

A penetrating injury at the left sternal border in the fourth intercostal space would puncture theanterior surface of the heart The right ventricle composes most of the hearts anterior surface

The left ventncle forms the apex of the heart and reaches as far as the fifth intercostal space atthe left midclavicular line All other chambers of the heart lie medial to the left midclavicular IineThe lungs overlap much of the anterior surface of the heart.

The coronary sinus communicates freely with the right atrium and therefore may become dilatedsecondary to any factor that causes right atrial ddatation The most common such factor ispulmonary artery hypertension, which leads to elevated right heart pressures.

The left atrium forms the majority of the postenor surface of the heart and resides adjacent to theesophagus. Enlargement of the left atnum can compress the esophagus and cause dysphagia.

The descending thoracic aorta lies posterior to the esophagus and the left atrium. This positionpermits clear visualization of the descending aorta by transesophageal echocardiography,allowing for the detection of abnormalities such as dissection or aneurysm.

Aspirated or inhaled particles are most likely to become lodged in the right main bronchus or itsbranches because this bronchus is shorter, wider and more vertically oriented than the left mainbronchus.

Aortic rupture is most commonly due to motor vehicle accidents, and the most common site ofinjury is the aortic isthmus, which is the connection between the ascending and descending aortadistal to where the left subclavian artery branches off the aorta

Lesions of the jugular foramen can result in jugular foramen (Vernet) syndrome, which ischaracterized by the dysfunction of CN IX, X, and XL

The lung apices extend above the level of the clavicle and first rib through the superior thoracicaperture. Penetrating injury in this area may lead to pneumothorax

Lymph from the testes drains through lymph channels directly back to the para-aortic lymphnodes. In contrast, lymph from the scrotum drains to the superficial inguinal lymph nodes.

The internal laryngeal nerve mediates the afferent limb of the cough reflex above the vocal cordsForeign bodies (eg, chicken or fish bones) can become lodged in the piriform recess and maycause damage to the nerve, impairing the cough reflex


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Thoracocentesis should be performed above the 7 rib in midclavicular line, the 9 rib alongmidaxillary line and the 1 1’ rib along posterior scapular hne Insertion of a needle lower thanthese points increases the risk of penetrating abdominal structures, and insertion of the needle onthe inferior margin of the rib risks striking the subcostal neurovascular bundle

The chest x-ray in acute left ventricular failure with pulmonary edema shows cardiomegaly(heart> Ihemithorax in size), pleural effusions, Kerley B lines, and increased vascular shadowing(alveolar edema)bilaterally.

Left ventricular leads in biventricular pacemakers course through the coronary sinus, whichresides in the atrioventncular groove on the posterior aspect of the heart

The inferior wall of the left ventricle forms most of the diaphragmatic surface of the heart Theposterior descending artery supplies this area In 85-90% of individuals, the posterior descending

artery derives from the right coronary artery

Irntaton of the mediastinal or diaphragmatic panetal pleura wiN cause sharp pain, worse oninspiration, in the C3-C5 distribution. Pain sensation from these areas is carned by the phrenicnerVe.

The left kidney lies immediately deep to the tip of the 1 2th rib on the Ieft

The arrow on the chest X-ray above points to the right atiium On postero-antenor (PA) chest X-ray projections, the right atrium composes most of the right side of the cardiac silhouette Theright atrium receives venous blood from the superior and inferior vena cavae, which compose thesuperior and inferior

The right atrium receives venous blood from both the superior vena cava and the inferior venacava The right atrium makes up the majority of the right border of the heart on PA chest fIlmsThe right ventricle forms the anterior waN of the heart and is best seen on lateral chest X-raysThe SVC and IVC compose the superior and inferior borders of the cardiac silhouette on theright side.

The great saphenous vein is a superficial vein of the leg that originates on the medial side of thefoot, courses anterior to the medial mafleolus and then traveis up the medial aspect of the leg andthigh It drains into the femoral vein within the region of the femoral triangle, a few centimetersinferolateral to the pubic tubercle.

The portal vein can be identified on cross-sectional scans lying medial to (or just within) theright lobe of the liver and anterior to the inferior vena cava. The pressure in the portal system iselevated in liver cirrhosis.

A pudendal nerve block can be performed by injecting anesthetic intravaginally in the region ofthe ischial spine Blocking the pudendal nerve provides anesthesia to the majority of the perineum


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additional blockade of the genitofemoral and ilioinguinal nerves would provide completepenneal and genital anesthesia

Apical lung tumors are called Pancoast tumors Pancoast tumors can cause Homer syndrome,SVC syndrome, arm weakness, arm paresthesias, and hoarseness

The inferior vena cava courses through the abdomen and interior thorax in a location anterior tothe right half of the vertebral bodies. The renal veins join the PlC at the level of L1112, and thecommon iliac veins merge to become the IVC at the level of L4

An early systolic murmur best heard over the left lower sternal border that is accentuated byinspiration is most likely due to tncuspid regurgitation


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BEHAVIORAL-1

Schizoaffective disorder is chaprominent mood symptoms A pe

mood symptoms is required for t

A temporary course of benzodithere is a significant increase incan be useful for treating insomhalf-life minimizes undesirable

Obstructive sleep apnea is thethe US It occurs due to poorheadaches, and depressionObstructive sleep apnea is the

the US It occurs due to poorheadaches, and depression

The hallmark of generalized anlasting at least 6 months. It is tre

Among drugs of abuse. intoxicatand cocaine is most commonly aphencyclidine (PCP, angel duscommon with PCP than with LS

According to guidelines releaseof therapy for acute mania is aplus an atypical antipsychotic (e.

In non-emergent settings. one slanguage barrier involving aAmerican Sign Language.

Suppression is a conscious, mthoughts or impulses

Avoidant personality disorder isinadequacy, timidity, and fear of

There are five subtypes of schiDisorganized schizophrenia is dinappropriate affect.

racterized by symptoms of schizophrenia inriod of at least 2 weeks of psychotic symptoms

he diagnosis.

zepines is sometimes used during the SSRI ianxiety related symptoms. Triazolam is a beia in patients employed in mission-critical posiaytime side effects.

ost common medical cause of excessive daytiropharyngeal tone and results in daytime sle

ost common medical cause of excessive dayti

ropharyngeal tone and results in daytime sle

xiety disorder is excessive worry over severaated with antidepressants and benzodiazepines.

ion with hallucinogens (psychotomimetic drugsssociated with violent behavior. Hallucinogenst) Belligerence and psychomotor agitation t

intoxication.

by the American Psychiatric Association (20ood stabilizing agent (eg lithium, vaiproate, og olanzapine).

ould always use a trained objective interpreteatient. This also applies to hearing-impaire

ature defense mechanism invoMng withhold

a maladaptive pattern of behavior characterizrejection.

ophrenia. each characterized by a set of proistinguished by disorganized speech and beha

the presence ofin the absence of

itiation period ifzodiazepine thattions, as its short

me sleepiness inpiness, morning

me sleepiness in

piness, morning

l different issues

), amphetamines,include LSD andend to be more

02) the mainstaycarbamazepine)

when there is apatients using

ing troublesome

d by feelings of

inent symptoms.ior and a flat or


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PCP or phencyclidine is a hallucinogen that works by inhibiting the excitatory NMDA receptor.Moderate amounts of PCP cause feelings of detachment and distance Additionally, PCP canproduce slurred speech, loss of coordination (ataxia). involuntary movements, exaggerated gait,and nystagmus It can induce paranoia and hallucinations and most users will become very hostile

and aggressive.

Passive-aggressive behavior is the expression of hostile feelings in a non-confrontationalmanner.

Patients with delusional disorder harbor nonbizarre delusions but do not meet the criteria forschizophrenia and can function without significant impairment in day-to-day life

Clinicians have ethical and moral obligations to report elder abuse. neglect and exploitation Ifthere is reason to suspect abuse or neglect, the patient should be interviewed alone to avoidintimidation by possible abusers

The only serotonin-releasing neurons in the CNS are found in the raphe nuclei These neuronsdisseminate widely to synapse on numerous structures in the CNS

Marijuana contains THC which stimulates cannabinoid receptors to produce effects on mood,perception, and memory. Marijuana produces a mild euphoria with laughing behavior, slowedreflexes, dizziness, impaired coordination, and short term memory loss. Rapid heart rate andconjunctival injection are the two most immediate physical symptoms of marijuana use. Itremains in tissues for a significant amount of time and can be detected up to 30 days after use.

Obsessive-compulsive disorder is characterized by recurrent, obsessive, anxiety-inducingthoughts, plus behavioral compulsions aimed at reducing the anxiety. In most cases of OCD, thepatient understands the unreasonable nature of their thoughts and behaviors OCD often starts inchildhood

Conversion disorder refers to the unconscious manifestation of neurologic symptoms whenpathophysiological explanations for the symptoms cannot be found It occurs more commonly inwomen and often occurs after a significant life stress

Obsessive compulsive disorder is characterized by persistent intrusive thoughts that lead torepetitive behaviors These thoughts and actions cause significant distress and functionalimpairment Affected individuals recognize the absurdity of their thoughts and actions but areunable to stop them

Transference is the unconscious shifting of emotions or desires associated with one person (eg.sibling, parent, spouse) to another (eg physician. therapist) It can be positive or negative

Differentiation of Delirium and Dementia1 Onset: Acute in delirium vs. gradual in dementia2. Consciousness Impaired in delirium vs. intact in dementia


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3. Course: Fluctuating symptoms in delinum vs. progressive decline in dementia4 Prognosis: Reversible symptoms in delinum vs. irreversible symptoms in dementia5. Memory impairment: Global in delirium vs. remote memory spared in dementia

Patients with prefrontal lobe injury often experience behavioral and personality changes,

secondary to impairment of the organizational, restraint, and motivational systems Frontal lobesyndrome can manifest in variable ways, but can often be categorized into disorganized.disinhibited. and apathetic types.

Narcolepsy is a disorder characterized by excessive daytime sleepiness and REM steep—relatedphenomena such as cataplexy, sleep paralysis, and hypnagogicihypnopompic hallucinations.

There are three categories of postpartum mood disturbances The most common is the postpartumblues, a benign, self-limited change in affect that lasts up to 10 days postpartum It is treated withwatchful waiting and the knowledge that up to 20% of these women will develop postpartumdepression

Reaction f0rmaon the replacement of an unpleasant or unacceptable thought or desire with anemphasis on its opposfte

Bulimia nervosa is an eating disorder characterized by binge-eating and either restrictive orpurging compensatory behaviors. Anorexia nervosa is distinguished from bulimia nervosa byabnormally low body weight (< 85% of ideal or BMI < 175 kg/m) and amenorrhea

Acute stress disorder and post-traumatic stress disorder present with identical symptoms(recurrent nightmares and flashbacks, potential memory loss, and exaggerated startle respOnse).Acute stress disorder can last no more than four weeks, however, while post-traumatic stressdisorder lasts longer than four weeks.

Projection refers to transplanting ones unacceptable impulses or affect onto another person orsituation. It is an immature defense mechanism.

Basic interviewing techniques include facilitation, reflection, confrontation, support, empathy.silence, and direct and indirect questioning. Support involves expressing concern independent ofunderstanding. This is in contrast to empathy, where the physician expresses understanding andvicarious experiencing of a patients situation.

There are numerous defense mechanisms (all of which the USMLE loves). Splitting refers toseeing the world in “black and white’ and is common amongst patients with borderlinepersonality disorder

At three years of age a child is expected to be able to play in parallel. speak in simple sentences,copy a simple shape, and ride a tricycle


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Psychotic symptoms that interfere with the patients functional status are classified as briefpsychotic disorder if the symptoms last less than one month. schizophreniform disorder if thesymptoms last one to six months, and schizophrenia if the symptoms last more than six months.

Opiate withdrawal is marked by abdominal pain. nausea. vomiting. diarrhea. piloerection,

pupillary dilation, diaphoresis and fever. It can occur in patients taking narcotics legally orIllegally.

When patients are unable to make their wishes known and there is no written documentation ofthese wishes, the responsibility for medical decision making falls to their designated health careproxy If a patient has not designated a surrogate decision-maker, medical decisions default to thenext of kin In the case of a married person, the next of kin is usually the spouse.

BEHAVIORAL-2

In situations where patients are unable to make decisions for themselves, responsibility for thosedecisions falls on the next of kin if the patient has no written directives clearly stating theirintentions. The next of kin for a married person is their spouse followed by their adult childrenThe next of kin is to make decisions based on how they believe the patient would have wantedthings.

Bulimia nervosa is an eating disorder characterized by alternating bingirig and weight reductionbehaviors. Patients can develop bilateral parotid gland enlargement, erosion of tooth enamel, andirregular menses.

Minors can consent to treatment for pregnancy, sexually transmitted disease, birth control, anddrug or alcohol addiction without Darental consent or notification.

Disability is a form of assistance provided to workers who can no longer work due to theirgeneral medical condition: it requires certification of disability by a physician When interactingwith difficult patients, it is best to try to calm them, explain your position and inquire more aboutwhat troubles them by using open-ended questions.

There are numerous somatoform disorders Body dysmorphic disorder is one in which a patientbelieves his or her body is pathologically flawed when, in fact, it is not There is a high rate ofcomorbid major depressive disorder and suicide attempts among patients with BDD

Adult patients who are competent or have outlined their wishes in a living will have the authorityto refuse any form of treatment, including life-saving therapies In an emergency situation, ifthere is any doubt in a clinician’s mind concerning the wishes of a patient, the best course ofaction is to treat according to the accepted standard of care. In an emergency, the physicianshould always provide potentially life-saving therapy to a minor.


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Adult patients who are competeto refuse any form of treatmenthere is any doubt in a cIiniciansis to treat according to the accalways provide potentially life-s

Psychogenic causes of ED accanxiety, sexual partner dissatisfpsychogenic impotence include

When an ill patient requests ypersonal support without interjegoal in these situations is to dpatient, not entering into a relig

care of the patient onto others.

If as part of a medical team yoharm to the patient, it is your ecolleague physician who has mwithout invoMng the patient or a

When treating patients that arimperative to not undermine thmaking negative comments abou

PaIents who are temporarily incdecisions.

In situations where a parent is cto get honest answers from thepolitely ask the parent to waitwhen discussing drugs, alcohol,

Displacement is one of the lesredirect emotions from the peracceptable, but still inappropriat

Patient confidentiality is stronglall aspects of their lives so thatbe breached in only 4 exceptistabbing injuries, diagnosis of athreaten to physically harm them

t or have outlined their wishes in a living will, including life-saving therapies In an emergmind concerning the wishes of a patlea the bespted standard of care In an emergency, theving therapy to a minor.

unt for approximately 10% of cases and inclction, and marital problems Important clues tudden onset and the presence of morning erect

ur prayers in an acute setting. it is appropricting your personal beliefs into the interactio

no harm” This can be achieved by not disaious debate with them, and not displacing resp

have been asked to perform an action that yothical obligation to discuss that order with yoade the questionable suggestion in order to rncillary staff.

referred to you for specialty care or seconpatienVs relationship with his or her primar

t the quality of care rendered by that practitione

apacitated should not be allowed to make imp

mplicating an interview or where you feel yoadolescent patient with the parent present, it

outside while you interview the patient Thisobacco and sexual activity with teenagers.

s mature defense mechanisms In displacemeon or object that is causing the negative em, person or object.

protected because patients must feel free to dphysicians can provide optimal care. Patient cnal circumstances suspected child or elder areportable communicable disease, and when pselves or others.

ave the authorityncy situation, ifcourse of action

physician should

de performancehat point towardons.

te to offer yourThe overriding

greeing with theonsibility for the

u feel will causer supervising orach a consensus

d opinions, it isprovider Avoid

r

rtant health care

will not be ableis appropriate tos also important

t. a patient willtions to a more

isclose details onnfidentiality canuse, gunshot ortients believably


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A patient who is competent and not incapacitated has the right to refuse treatment by a physicianat any time, even if that treatment is life-saving. A competent patient understands their situationas well as the possible consequences of decisions made in that situation.

Health care information should be fully disclosed, unless the patient has expressly asked not tobe informe


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Using open-ended questions is the most effective way to start clinical histories Once the patienthas started his history, one can use closed-ended follow-up questions to clarify certain pointS.

In situations where you need to relay difficult information to a patient. you should take the

approach of immediately informing the patient of the news, gMng them a moment to think aboutthe news, and subsequently explaining what the news means and what their options are. Youshould always end by answering any questions the patient may have.

White coat syndrome’ (patient anxiety evoked by healthcare workers dressed in white coats) isan example of classical conditioning, wherein the white coat serves as a conditioned stimulus foranxiety

Prescription of antibiotics for diseases that are not bacterial in origin is not proper procedure.This practice contributes to the societal prob$ern of antibiotic resistance, and it places the patientat unreasonable risks due to adverse reactions to antibiotic therapy

It is unethical to discuss any information regarding the patient’s diagnosis. treatment, prognosis,etc. with a physician who is not involved in the patient’s care. Likewise, the physician shouldneither confirm nor deny whether the person of interest is, in fact, a patient

Advance care planning for end of life issues such as desire for intubation. mechanical ventilation,tube feedings, parenteral feedings, CPR and cardioversion are best initially discussed duringoutpatient visits with primary care providers These decisions must also be readdressed during theadmission process for acute admissions so that medical staff can adhere to the specific wishes ofpatients


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BIOCHEMISTRY 1

Ubiqurtin is a protein that undergoes ATP-dependent attachment to other proteins, labeling themfor degradation. These modified prote.ns enter the proteasome and are degraded into smallpeptides Impairment of the ubiquitin-proteasome system can contribute to the development of

neurodegenerative disorders. including Parldnson’s and Alzheimer’s diseases

All three prokaryotic DNA polymerases have proof reading actrvity and remove mismatchednucleotides via 3’ to 5’ exonuclease activity. Only DNA polymerase I has 5’ to 3’ exonucleaseactivity which is used to excise and replace RNA primers and damaged DNA sequences.

The 1P3 second messenger system begins with hormone binding and G-protein activationleading to activation of phospholipase C. Phospholipase C forms diacyiglycerol and lP3 fromphospholipids, and 1P3 causes an increase in intracellular calcium, which then activates proteinkinase C.

Arginase is an enzyme of the urea cycle that produces urea and ornEthine from arginine

Helicase unwinds DNA at the replication fork and separates dsDNA into ssDNA during thereplication process. Initial separation of dsDNA at the origin of replication is facilitated by DnaAprotein and strand binding proteins (SSB) proteins

Extracellular propeptidases cleave disulfide-rich terminal extensions from the procollagenmolecule. This results in formation of water-insoluble triple helical collagen fibrils.

Tyrosine becomes essential in PKU pabents because can no longer be synthesized fromphenylalanine Phenylketonuna (P1(U) results from an rnabihty to convert phenylalanwie to

tyrosine by the phenylalanine hydroxylase system Although neonatal hyperphenylalaninemia canbe caused by deficiences in any of the phenylalanine hydroxylase system, most are attnbutable toabnormaIies in the phenylalanine hydroxylase enzyme

snRNPs (small nuclear nbonucleoproteins) are synthesized by RNA polymerase II in the nucleus.They help to remove introns from the RNA transcript and are thus necessary for synthesis ofmessenger RNA

The zinc-containwig 6-Aminolevulinate dehydratase and ferrochelatase are enzymes in the hemebiosynthetic pathway that are inactivated by lead Thus, in lead poisoning, ö-AL4 andprotoporphyrin IX accumulate, and the production of heme is decreased, leading to microcytic

anemia secondary to a lack of hemoglObin.

DNA poiymer;selhas 5’ to 3’ exonuclease activify in addition to its 5’ to 3’ polymerase and 3’ to5’ exonuclease activities. This 5’ to 3’ exonuclease activity is used to remove the RNA primer(which initiates DNA polymerization) and to remove damaged DNA.

Hydrogen bonds are the principal stabdizing force for the secondary structure of proteins.


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A patient with orotic aciduna (impaired de novo pyrimidine synthesis) will present withhypochromic megaloblastic anemia, neurologic abnorrnahties. growth retardation and excretionof orotic acid in the urine Uridine supplementation impioves symptoms by inhibiting carbamoylphosphate synthetase II.

Homocystinuna is caused by cystathionirie synthetase deficiency Affected individuals manifestwith skeletal abnormalities resembling those of Marfan syndrome In addition, they are also athigh risk of developing thromboembolism About 50% of affected patients respond to high dosesof vitamin B6 (pyridoxine)

N-acetylglutamate is an essential activator of carbamoyl phosphate synthase I and is formed bythe enzyme N-acetylglutamate synthetase from the precursors acetyl-CoA and glutamate.

In Niemann-Pick disease. deficiency of sphingomyelinase causes abnormal accumulations of theceramide phospholipid sphingomyehn and neurologic detenoration within the first year of life

The nitrogen atoms in the urea moIecue are derived from NH3 and aspartate in the urea cycleRemember that carbamoyl phosphate synthetase I (CPS I) is the rate-limiting enzyme in the ureacycle reaction and is activated by N-acetylglutamate (NAG)

Vitamin A ovewse can result in intracranial hypertension. skin changes and hepatosplenomegaly

tRNA is the smallest subtype of cellular RNA It is responsible for transporting amino acids to thesite of protein synthesis and introducing them into the growing polypeptide chain at the correctlocations The 3k-end of the tRNA molecule is the site of amino acid binding. The opposite sideof the molecule contains the antic odon loop, which recognizes a specific codon on the mRNAmolecule

Glycine is the most abundant amino acid in the collagen molecule. IL occurs in AT LEASTevery third amino acid position The amino acid formula & collagen is (-Gly-X-Y-)333

LeSCh-Nyhan syndrome is an X-Iinked recessive disorder caused by a defect in hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This results in failure of the purine salvagepathway Because they are not recycled, increased amounts of the purine bases hypoxanthine andguanine are degraded to uric acid. De novo purine synthesis must increase to replace the lostbases.

Chronic thiamine (BI) deficiency leads to the diminished abihty of cerebral cells to utilizeglucose The mechanism is decreased function of the enzymes that use vitamin Bi as a cot actor(pyruvate dehydrogenase. a-ketoglutarate dehydrogenase, and transketolase) Thiaminedeficiency can be diagnosed by measuring erythrocyte transketolase activity

Propionyl CoA is derived from amino acids (Val, lie, Met, and Thr), odd-numbered fatty acids,and cholesterol side chains Congenital deficiency of propionyl C0A carboxylase, the enzymeresponsible for the conversion of propionyl CoA to methylmalonyl C0A, leads to thedevelopment of propionic acidemia


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Ornithine transcarbamoylase deficiency is the most common disorder of the urea cycle, resultingin severe neurological abnorrnahties due to high blood and tissue ammonia levels, Increasedurine orotic acid excretion is typica[

Branched.chaina-ketoacid dehydrogenase. similar to pyruvate and a-ketoglutaratedehydrogenase, requiresseveral coenzymes Thiamine pyrophosphate, Lipoate, Coenzyme A. FAD, NAD (mnemonicTender LovingCare For Nancy). Some patients with maple syrup unne disease improve with high-dose thiaminetreatment(thiamine-responsive), but most still require lifelong dietary restncbons

Deficiency of the enzyme phenylalanine hydroxylase or of its cofactor tetrahydrobiopterincauses accumulation of phenylalanine in body fluids and the central nervous system (CNS). Thehomozygous infant is normal at birth, but mental retardation develops gradually in untreated

infants and is frequently evident within six months of life

Transamination reactions typically occur between an amino acid and an a-keto acid The aminogroup from the amino acid is transferred to the a-keto acid, and the a-keto acid in turn becomesan amino acid. Pyndoxal phosphate (vitamin B6) serves as a cofactor in amino acidtransamination and in decarboxylation reactions.

Antibodies to citrulinated peptides/proteins have a high specificity for rheumatoid arthritis.

Marfans syndrome is due to a defect m fibrillin. an extracellular glycoprotein that is abundant inthe zonular fibers of the lens, the periosteum and the aortic media The different locations offibrillin production explains the varied clinical manifestations of Marfan’s syndrome.

Peroxisomal diseases are rare inborn errors of metabolism where peroxisomes are either absentor nonfunctional Very long chain fatty acids or fatty acids with branch points at odd-numberedcarbons can not undergo mitochondnal beta-oxidation, these fatty acids are metabolized by aspecial form of beta oxidation (very long chain fatty acids) or by alpha oxidation (branched chainfatty acids such as phytanic acid) within peroxisomes These diseases commonly lead toneurologic defects from improper CNS myelination.

Gout can occur with increased frequency in patients with activating mutations in5’-phosphoribosyl-P-pyrophosphate (PRPP) synthetase due to an increased production ofpurines, which results in hyperuricemia

Coichicine is useful in the acute management of gouty arthritis because it inhibits the chemotaxisof neutrophils by preventing microtubule formation.

Niernann-Pick disease is an autosomal recessive disorder characterized by a deficiency of thesphingomyelinase enzyme and resuttant accumaiation of sphingomyelin. Patients present ii


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infancy with loss of motor skiBs. hepatosplenomegaly, hypotonia and a cherry-red macular spot.Foamy histiocytes are the classic finding on tissue histology Death occurs before age 3

Tetrahydrobiopterin (BH4) is a cofactor used in the synthesis of tyrosine, DOPPL serotonin. andnitric oxide.

Initially. tyrosine is converted to DOPA by the enzyme tyrosine hydroxylase, with BH used as acofactorNext, DOPA is decarboxylated to dopamine by the enzyme DOPA decarboxyLase In atypicalphenylketonuna(PKU) wrth tyrosine supplementation, only the catecholamine synthesis reachons downstream oftyrosine arecompromised

Ehiers-Danlos syndrome is a heritable connective tissue disease associated with abnormalcollagen forrnation EDS usually manifests clinically as over-flexible (hypermobile) joints, over-elastic (hyperelastic) skin, and fragile tissue susceptible to bruising, wounding, and

herna,’throsis.

Procollagen is synthesized by a series of steps within the endoplasmic reticulum of cells such asfibroblasts. This molecule is then released into the extracellular space by transport through theGolgi apparatus and converted into collagen by procollagen peptidases that cleave the watersoluble, non-helical N- and C-terminal portions of the procollagen molecule from procollagen toform collagen Collagen monomers are then covalently crosslinked with each other after certainresidues are oxidized by lysyl oxidase.

Glycogen degradation is coupled with skeletal muscle contraction due to calcium-mediatedmyophosphorylase activation Increased calcium in the cytosol allosterically activatesphosphorylase kinase, which then phosphorylates (activates) muscle phosphorylase

Alkaptonuria is an autosomal-recessive disorder caused by a deficiency of the enzymehomogentisic acid oxidase, which normally breaks down the tyrosine bypoduct homogentisicacid (also called alkapton). Accumulated homogentisic acid causes pigment deposits inconnective tissues throughout the body.

Maple syrup urine disease (MSUD) is caused by a defect in a-keto acid dehydrogenase. leadingto an inability to degrade branched chain amino acids beyond their deaminated a-keto acid stateThis illness classically results in dystonia and poor feeding as well as the maple syrup scent ofthe patients urine within the first few days of life Treatment rests on dietary restnchon ofbranched-chain amino acids

Aikaptonuna is an autosomal-recessive disorder in which the lack of homogentisic oxidaseblocks the metabolism of phenylalanine and tyrosine at the level of homogentisic acid, leading toan accumulation of homogentisic acid Homogenhsic acid excreted in the urine imparts a blackcolor to urine. if allowed to undergo oxidation Aikaptonuna also causes ocl’wonosis, a blue-black pigmentation that is most evident in the ears, nose, and cheeks.


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Hydroxylation of proline and lysine residues in the collagen precursor occurs m the RER andrequires vitamin C as a cofactor Terminal peptide cleavage and collagen fibnl crosshnking occurin the extracellular space

BHsacofactorusedby hydroxytase enzymes m the synthesis of tyrosine. dopa, and serotonin, as

well as nitric oxide Serotonin is synthesized from tryptophan, and the initial step in this reactionis catalyzed by an enzyme that uses BH4 as a cofactor Enzyme dihydrobioptenn reductasedeficiency causes defective regeneration of BH4, and is an uncommon cause of phenylketonuna(PKU).

Methylmalonic acidemia (also known as methylmalonic aciduria) results from a defect in theisomerization reaction that transforms methylmalonyl CoA to succinyl CoA, prior to succinylCoA entering the TCA CycIe

Alanine is the major amino acid responsible for transferring nitrogen to the liver for disposalDuring the catabolism of proteins, amino groups are transferred to a-ketoglutarate to form

glutarnate. Glutamate is then processed in the liver to form urea, the primary disposal form ofnitrogen in humans. Free ammonia is also excreted into the urine by the kidney for regulation ofacid-base status.

BIOCHEMISTRY 2

Cobalamin (Vitamin B12) deficiency results ii homocystinemia due to impaired methionine re-synthesis Homocystinuria occurs in cobalamin (Vitamin B12) deficiency because homocysteinemethyltransferase, the enzyme that converts homocysteine and methyttetrahydrofolate tomethionine and tetrahydrofolate, requires B12 as a cofactor.

Heme oxygenase converts heme to biliverdin. a pigment that causes the greenish color todevelop in bruises several days after an injury.

There is one codon that signals initiation of protein synthesis (AUG), while three codons stopprotein synthesis (UM, UAG, and UGA) Transfer RNA molecules (tRNA) transport amino acidsto the site of protein synthesis and ensure placement of the proper amino acid for a given mRNAcodon Each tRNA contains a specific anticodon that is complementary (oriented in anantiparallel direction) to certain mRNA codons,

In the lungs, hemoglobin binds oxygen and releases protons while, in the tissues, it releases andacquires protons. Deoxyhemoglobin is stabilized by ionic bonding of 2,3 DPG to the two betasubunits and by salt bridges between N-terminal histidine residues in each globuIin

Pnmase is a DNA-dependent RNA polymerase that mcorporates short RNA primers intoreplicating DNA.


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Hemoglobin S (HbS) aggregatethat reduce red blood cell memconditions associated with anerythrocytes predispose to micro

The PI3KJAkt)mTOR pathway icellular proliferation, and angioPTEN that enhance the activity

Decreased heme concentration rturn, leads to increased formaformation of ö-arninolevulinic ainhibit the synthesis of ALA syn

The liver takes up indirect (unco(conjugated) bilirubin through awater at physiologic pH and is tiform cannot be excreted in thewater-soluble, non-toxic, and on

Releasing factors recognize thsynthesis They facditate releasethe ribosome-mRNA complex

Exertional dyspnea. pneumoniaabdominal and bone pain are clfrom a point mutation that causeb-globin chain of hemoglobin.

Glucose 6-phosphate dehydrogemonophosphate pathway that res

The key functions of important aApoA-l: LCAT activation (choleApoB48: Chylomicron assembly

ApoB-100: LDL particle uptakeApoC-Il: Lipoprotein hpase actiApoE-3 & 4: VLDL and chytom

Fabry disease is an inherited def globoside ceramide tnhexosideangiokeratomas, hypohidrosistypically develop progressive re

in the deoxygenated state HbS polymers forfane flexibility and promote sickling Sicklingxia including low pH and high 2,3-DPG.vascular occlusion and microinfarction

s an intracellular signaling pathway important fgenesis. Mutations in growth factor receptorsf this pathway contribute to cancer pathogenesi

su’ts in an increase in hepatic ALA synthaseion of ö-aminolevuhnic acid and porphobdiid and porphobilinogen occurs because heme nhase.

njugated) bilirubin through a passive process aactive process. Unconjugated bilirubin is virt

ghtly complexed to serum albumin while in thrine, even when blood levels are high. Conju

y loosely bound to albumin. it is freely excrete

stop codons (UAA, UAG and UGA) to tof the polypeptide chain from the hbosome a

resulting in life-threatening acute chest syndroinical features of sickle cell anemia Sickle cevaline to substitute for glutamic acid in the six

nase deficiency is a common X-Iinked disordults in episodes of hemolytic anemia due to oxi

polipoproteins are as follows:sterol esterification)and secretion by the intestine

by extrahepatic cellsationicron remnant uptake by Irver cells

iciency of alpha-galactosidase A that causes acii tissues The earliest manifestations of F

and acroparesthesia Without enzyme replaal failure

fibrous strandsoccurs under allThese inflexible

r anti-apoptosis,. Akt mTOR. ors.

ctivity, which innogen Increasedormally serves to

d secretes directally insoluble incirculation This

gated bihrubin isin the urine.

erminate proteind dissolution of

e. and recurrentll anemia resultsth position of the

er of the hexoseative stress.

umulation of thebry disease areement, patients


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Glucose 6-phosphate dehydrogenase deficiency is a defect in the HMP shunt that impairsglutathione reduction due to failure to produce NADPH. Glutathione reductase deficiency causesa similar clinical picture and is pathophysiologically similar to G6PD deficiency

Western blotting is used to identify proteins. Northern blotting identifies specific RNAsequences and Southern blotting identifies specific DNA sequences in an unknown sample

HbF dominates in newboms It consists of two alpha and two gamma protein subunits (ci2y2),has a high affinity for oxygen and is produced during the final seven months of gestationSwitching to HbA (a232) occurs during the first six months of life

SngIe nucleotide deIeions shift the reading frame, often creating a premature stop codon ordramatically changing the protein structure,

Methemoglobinemla causes dusky discoloration to the skin (similar to cyanosis), and because

methemoglobin is unable to carry oxygen. a state of functional anemia is induced The bloodpartial pressure of 02, however, will be unchanged in this condition because oxygen’s partialpressure is a measure of dissolved in the plasma and is not related to hemoglobin funchon

The individual subunits of the hemoglobin molecule are structurally analogous to myoglobin. Ifseparated, the subunits will demonstrate a hyperbolic oxygen-dissociation curve similar to that ofmyoglobin.

In order for a child to have sickle cell disease, both parents must be carriers. The carrier status ofprospective parents can be established by hemoglobin electrophoresis.

Normally, 2, 3-DPG forms ionic bonds with the two beta subunits of HbA in the tissues afterhemoglobin has been deoxygenated Fetal hemoglobrn binds oxygen with a higher affinity due toits inability to interact with 2, 3- DPG. Ultimately, the fetal hemoglobin must be able to extract02 from maternal hemoglobrn in the placenta

Transketolase and transaldolase carry out the nonoxidative reactions of HMP shunt Some cellsdo not use the oxidative phase reactions to produce cytosohc NADPH, but all cells cansynthesize nbose from fructose-6-phosphate using the nonoxidative reactions

Nitrites are oxidizing agents that are effective in the treatment of cyanide poisoning due to theirability to cause methemoglobinemia Methemoglobin contains femc rather than ferrous ironCyanide binds to ferric iron more avidly than to mitochondnal cytochrome enzymes. which savesthese mitochondnal enzymes from cyanides toxic effect.

The thaassemias result from mutations that cause detective mRNA processing, which leads todeficiency of certain protein chains required for hemoglobin synthesis Beta-thalassemia minor istypically an asymptomatic disorder Laboratory tests will show a mild hypochromic microcyticanemia with increased HbF, Hb% and target cefls


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CO binds to hemoglobin with abinding of CO and 0. to hemoglon the heme iron of hemoglobin

The symptoms of difficulty in s

koilonychia) are specific for iron

Homocysteine is converted to m

Folate deficiency inhibits thelimits DNA synthesis and proBecause thymidine supplemenerythroid precursor cell apoptosi

Matunng erythrocytes lose theirMitochondria are necessary for t

Pyruvate kinase deficiency causfailure to generate sufficienthypertrophy results from increadeformed erythrocytes from the

The Kozak sequence plays a rolfrom the start codon (AUG) in t

A mutation in the Kozak seqintermedia. which results in hyp

HbC is caused by a missense mbeta globin chain, resufting in inslowly than both HbA and HbS

The chronic myeloproliferativeprimary myelofibrosis) often hakinase 2 (JAK2) This results inindependent activation of STAT

With the exception of vitamindepleted without dietary intake.years Severe vitamin K deficibacteria produce functional formK

n affinity that is 220 times that of oxygen forobin are reversible. CO. therefore, competes w

allowing (dysphagia) and disfigured fingernai

deficiency anemia

thionine using methylcobalamin and methyl te

ormation of deoxythymidine monophosphateotes megaloblastosis and erythroid precurs

ation can moderately increase dTMP levels

abihty to synthesize herne when they lose thhe first and final three steps of herne synthesis.

es hemolytic anemia due to failure of glycolTP to maintain erythrocyte structure. In ted work of the splenic parenchyma, which mirculation.

in the initiation of translation A mutation threis sequence is associated with thalassemia inter

ence of the beta-globin gene is associatedchromic, microcytic anemia.

tation that causes a substitution of glutamatecreased positive charge of the molecule Thus,n hemoglobin gel electrophoresis

disorders (polycythemia vera. essential throe a mutation (V617F) in the cytoplasmic tyrosonstitutive tyrosine kinase activity, and conseqtranscription factors.

.. the body’s stores of most water-soluble vitIn contrast, hepatic stores of vitamin B2 mayncy rarely results from poor dietary intakes of vitamin

hemoglobin Theith O for binding

s (spoon nails or

rahydrofolate.

(dTMP), whichr cell apoptosis, it can reduce

ir mitochondria.

sis and resultantis case, splenicst remove these

e bases upstreammedia

ith thalassemia

Ith lysine in thebC moves more

mbocytosis, andine kinase, Janusuently, cytokine-

mins are rapidlyast up to severalbecause colon*c


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The P refers to the partial pressure of oxygen where hemoglobin is 50% saturated A decrease inthe P means that hemoglobin has an increased oxygen affinity An increased oxygen-affinity ofhemoglobin causes less oxygen to be released in the tssues. and results in hypoxia then reflexpolycythemia

Vitamin K assistance of glutamate residue carboxytation is essential for some clotting factorproduction

Hypoxia-induced lactic acidosis is caused by a low activity of pyruvate dehydrogenase(oxidative phosphorylation pathway) and a high activity of lactate dehydrogenase.

HbS contains valine in place of glutamic acid in the amino acid position of the beta subunit Thispromotes hydrophobic interaction among hemoglobin molecules and results in polymerization ofHbS molecules and red blood cell distortion

A left shift of the hemoglobin oxygen dissociation curve indicates increased hemoglobin 02

affinity and can be caused by increased pH, decreased 2, 3-DPG, and decreased temperature Aleft-shift of the

Increased 2,3-BPG concentrations within erythrocytes enable increased oxygen delivery in theperipheral tissues in the presence of lower blood oxygen concentration because 2,3-BPGdecreases the affinity of hemoglobin for oxygen 2,3-BPG is produced from 1 ,3-BPG by theenzyme bisphosphoglycerate mutase This reaction consumes the energy that would have beenotherwise used by the erythrocyte to produce energy in the form of ATP

HbF contains y-globin instead of 13-gIObEi Patients with homozygoüc -thaIassemia (-thaIassemia major) are asymptomatic at birth due to the presence of y-globins and HbFSwitching to HbA production and the cessation of y-globEn synthesis precipitates the symptomsof 13-thalassemia

While DNA synthesis occurs in the 5’ to 3’ direction on both strands, the leading and laggingstrands are constructedin both the 5’ to 3 and 3’ to 5 directions, respectively The lagging strandis synthesized discontinuously and is composed of short stretches of RNA primer plus newlysynthesized DNA segments called Okazak fragments Thus, the lagging strand requires therepetitive action of DNA pnmase and DNA ligase.

BIOCHEMISTRY 3

In contrast to the rough endoplasmc reticulum (ER). the smooth ER contains enzymes for steroidandphospholipid biosynthesis. All steroid-prnducing ce’ls (eg, cells m the adrenals. gonads, andliver) contain a weII-civp1nned smonth PR


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High-output congestive heart failure and neurological symptoms are strongly suggestive of wetberiberi (thiamine deficiency)

Elastin’s pIasticty and abdity to recod upon release of tension is attributable to a unique form ofdesmosine crosslinking between four different lysine residues on four different elastin chains

This crosslinking is accomplished by the action of extraceliular lysyl hydroxylase

Exposure to radiation including therapeutic and palliative radiation therapy, induces DNAdamage through DNA double-strand fractures and the formation of oxygen free radicals

Resembling prokaryotic DNA and being derived completely from the mother. mitochondrialDNA (mtDNA) is the most common non.-nuclear DNA found in eukaryotic Cells.

After 12 to 18 hours of fasting, gluconeogenesis is the principal source of blood glucoseGluconeogenesis uses many of the bidirectional enzymes involved in the process of glycolysis,but a few unidirectional enzymes need to be bypassed The initial committed step of

gluconeogenesis involves the conversion of pyruvate to oxaloacetate, and oxaloacetate tophosphoenolpyruvate

Protein kinase Ais primarily responsible for the intracellular effects of the G-protein I adenylatecyclase second messenger system. Some hormone receptors that use this mechanism include theTSH, glucagon, PTH, and beta-adrenergic receptors.

If AG° is a negative number. K will be greater than 1, and the concentration of products atequilibrium wil exceed that of the substrates If AG° is positive, K will be less than 1, and theformation of substrates will be favored.

Pyruvate dehydrogenase deficiency is a disease with multiple possible presentations rangingfrom neonatal death to mild episodic symptoms in aduRbood By preventing the conversion ofpyruvate to acetyl C0A. pyruvate is shunted to lactic acid resulting in lactic acidosis in thesepatients Lysine and leucine are exclusively ketogenic and would not increase the blood lactatelevel in patients suffering from pyruvate dehydrogenase deflciency

Integral membrane proteins contain transmembrane domains composed of alpha helices withhydrophobic amino acid residues such as valine, alanine, isoleucme. methionine. andphenylalan*ne

Cysteine becomes an essential amino acid m patients with homocystinuria, as the defectiveenzyme cystathionine synthetase produces the substrate used by cystathionase for theendogenous production of cysteine

In patients with essential fructosura. metabolism of fructose by hexokinase to fructose-6-phosphate is the primary method of metabolizing dietary fructose: this pathway Es notsignificant in normal individuals.


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Aldose reductase converts glucose into sorbitol. which is further metabolized into fructose bysorbitol dehydrogenase This pathway is most active in the seminal vesicles The lens alsocontains significant levels of sorbitol dehydrogenase, which become overwhelmed in the settingof hyperglycemia Other tissues, such as the retina, renal papilla, and Schwann cells, have muchless sorbetol dehydrogenase activity

Okazaki fragments are short stretches of newly synthesized DNA that are separated by RNAprimers They are formed by the discontinuous synthesis of DNA on the lagging strand dunngreplication

Deletions or the addthons of a number of base pairs which are not a multiple of three indicatethat a frameshift mutation has occurred Frameshift mutations alter the reading frame of thegenetic code, resulting in the formation of non-functional proteins

Glucokinase is a glucose sensor within pancreatic beta ceIIs Inactivating mutations of theenzyme result in mild hyperglycemia that can be exacerbated by pregnancy

Phenylethanolarnine-N-methyltransterase (PNMT), wtich is responsible for the synthesis ofepinephnne, is under the control of cortisol

Lactic acidosis occurs in patients with septic shock because of tissue hypoxia, which results inimpaired oxidative phosphorylation and the shunting of pyruvate to lactate following glycolysis.Hepatic hypoperfusion also contributes to the buildup of lactic acid, as the liver is the primarysite of lactate clearance.

Elderly patients with dementia or hemiparesis may also have dysphagia, which is a risk factor foraspiration pneumonia. Dependent lung consolidation is commonly seen in aspiration pneumonia.

Fructose 2,6-bisphosphate activates glycolysis by inducing phosphofructokinase-1 and inhibitsgluconeogenesis by inhibiting fructose 1 ,6-bisphosphatase High concentrations of fructose 2,6-bisphosphate also decreases the gluconeogenic conversion of alanine to glucose Fructose 2,6-bisphosphate concentration is regulated by a bifunctional enzyme composed ofphosphofructokinase-2 and fructose 2,6-bisphosphatase.

Dietary fructose is phosphorylated in the liver to F-i-P and is rapidly metabohzed because itbypasses PFK-1, the rate-limiting enzyme of glycolysis. Other sugars enter glycolysis before thisrate-limiting step and are therefore metabolized more slowty due to regulahon of PFK-1.

Biotin acts as a CO carrier on the surface of the carboxylase enzyme and is necessary fornumerous conversions, including pyruvate to oxaloacetate, Excessive ingestion of avdin (whichis found in egg whites) has been associated with biotin deficiency.

Receptors for cortisol are located within the cytoplasm and are translocated to the nucleus afterbinding to cortisol In the nucleus, the cortisol-receptor complex binds to the hormone responsiveelements, causing an alternation in the transcription of target genesxKnow the second messengers very well


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The genetic code is “degenerate,Each tRNA molecule is specififew different codons coding for

ATP is the regulatory substancpancreatic beta cells

PCR requires primers that are camplified. Thermostable DNAtemplate strand are also necessar

Glycogenolysis provides immeddeficiency (McArdle’s syndroglycogenolysis with clinical mamuscle pain with physical activi

After IJV damage. pyrimidinespecdic endonuclease which irüdimer, This action signals the re

After a hormone binds a G-prostep of the lP second messediacyiglycerol (DAG) and inoactivated by DAG as well as caof lP

Southern blotting is a techniqendonuclease digestion of samradoactivety-Iabeled DNA probe

Amino acids with three titrataglutamic acid, cysteine and tyros

UV-specific endonuclease deficdisorder xeroderma pigmentosu

Heavily methylated DNA is ttranscriptionally inactive Tightcontribute to the compact nature

meaning that there are more codons (61) thanfor a given amino acid Many tRNA anticod

he same amino acid This is called the wobble p

e that stimulates KATP channel closure in i

mplementary to the regions of DNA flanking tolymerase, deoxynucleotide triphosphates, any.

iate energy for strenuous muscle contraction Me or type 5 glycogen storage disease) leadifestations of decreased exercise tolerance, m

y.

imers are formed in cellular DNA. which areiates the process of repair by nicking the straoval and replacement of this damaged DNA.

ein coupled receptor that activates phospholipger system involves degradation of membitol triphosphate (1P3) by that enzyme. Procium released from sarcoplasmic reticulum un

ue used to identity UNA mutations. It inple DNA, gel electrophoresis, and gene idenvv

ble protons include histidine, arginine. lysinine

iency is the most common cause of the aut

ypically found in heterochromatin, which isassociation with non-acetylated histones andof heterochromatin and its transcnptionally ina

amino acids (20)ns can bind to ahenomenon

nsulin-producing

he segment to bethe target DNA

yophosphorylaseto a failure of

oglobinuna, and

recognized by ad at the thymine

ase C, the initialrane lipids intoein kinase C isder the influence

olves resinctiontification with a

e, aspartic acid,

somal recessive

condensed andethylation both

tive state


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Colony-stimulating factors, prolactin, growth hormones and cytokines utilize tyrosine kinase-associated rtrtAr rvl th I /cTtT iw,nIenn nthiwu

The nucleolus, the dark intranuclear body visible both by light microscopy and electronmicroscopy, is the site of ribosomal RNA synthesis

Insulin is an anabolic hormone that acts via a tyrosine kinase second messenger system tostimulate the synthesis of glycogen. proteins, fatty acids and nucleic acids. Tyrosine kinase leadsto the activation of protein phosphatase within cells, and protein phosphatase directly modulatesthe activity of enzymes in the metabolic pathways regulated by insuhn

The breast milk content of vitamins [) and K is typically insufficient to meet the nutritional needsof the newbom Vitamin K is given parenterally to infants at birth to prevent hemorrtiagic diseaseof the newbom Exclusively breastfed infants may develop vitamin D deficiency they are notexposed to adequate sunlight Dark-skinned infants are at especially high risk because they mustbe exposed to sunlight for longer periods of time to generate adequate vitamin D

Protons dissociate from amino acids when the pH exceeds the pK) associated with each givenproton.

fl the free energy of the products is lower than that of the substrates, the sign of will be negative.indicating that the reaction favors product formation I the free energy of the products is higherthan that of the substrates, G° will be positive and the reaction favors substrate formation

Thyroid hormones alter gene transcription by binding to receptors situated inside of the nucleusReceptors for several steroid hormones such as glucocorticoids, mineralocorticoids, androgens,and estrogens are usually initially present in cytoplasm, although they do migrate to the nucleusonce activated

GTP is synthesized by the citric acid cycle enzyme succinyl-CoA synthetase during theconversion of succinyl CoA to succinate. In gluconeogenesis. the hydrolysis of GTP is requiredfor the phosphorylation and decarboxylation of oxaloacetate to phosphoenolpyruvate byphosphoenolpyruvate carboxykinase

Nitric oxide is synthesized from arginine by nitric oxide synthase As a precursor of nitric oxide,arginine supplementation may play an adjunct role in the treatment of conditions that improvewith vasodilation. such as stable angina

Aidolase B deficiency causes hereditary fructose intolerance This disease manifests afterintroduction of fructose into the diet with vomiting and hypoglycemia about 20-30 minutes afterfructose ingestion. These infants can present with failure to thrive, j

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