Ksyndromes: Kaplan Companion To First Aid For Usmle Step 2 Ck

Front 1

Q001. 11β-hydroxylase deficiency

Back 1

A001. 11β-hydroxylase is step later in pathway than 21α- hydroxylase. Milder form of disease. Still unable to produce cortisol and aldosterone. Hypertension (deoxycorticosterone is mineralocorticoid and has similar effects as aldosterone); Masculinization - increase sex hormones; Since this is less severe form of disease, female pseudohermaphroditism is less likely.

Front 2

Q002. 17α-hydroxylase deficiency

Back 2

A002. 17α-hydroxylase required to make cortisol and sex hormones; Hypertension; Hypokalemia (aldosterone effect); Male pseudohermaphroditism - external female genitalia (no DHT), testes, and no internal female genitalia (MIF by Sertoli cells); Female Sexual Infantilism - failure to develop secondary sex characteristics. Default development is female, but estrogen required for breast development and ovulation

Front 3

Q003. 21α-hydroxylase deficiency

Back 3

A003. 21α-hydroxylase required to make Cortisol and Aldosterone; Hypotension; Hyperkalemia (No Aldosterone); Salt-wasting: Hypovolemic shock in newborn - salt-wasting leads to decrease blood volume --> decrease Renal perfusion --> increase Renin --> increase AT II --> Efferent arteriole constriction --> increase GFR which perpetuates salt-wasting and hypovolemia; increase sex hormones; Female Pseudohermaphroditism - increase androstenedione and testosterone; Masculinization - increase androstenedione and testosterone

Front 4

Q004. 22q11 syndromes

Back 4

A004. cleft palate,; abnormal faces,; hypocalcemia (secondary to parathyroid aplasia, microdeletion at 22q11); Variable presentation as DiGeorge syndrome (thymic, parathyroid and cardiac defects) or velocardiofacial syndrome (palate, facial and cardiac defects)

Front 5

Q005. Abetalipoproteinemia

Back 5

A005. AR inheritance Deficient in apoB-100 and ApoB-48->Inability to export absorbed lipid as chylomicron-> lipid accumulation in enterocyte Sx in first few months of life Failure to Thrive, Steatorrhea, Acanthocytosis, Ataxia, Night Blindness"

Front 6

Q006. Achondroplasia

Back 6

A006. AD inheritance; Defect: FGF receptor 3 causes decrease cartilage (enchondral ossification, intramembranous ossification is unaffected) --> decrease long bone growth; Sx: Dwarfism (short limbs, but head and trunk normal), limitation of elbow extension, trident hands (increased space between the third and fourth fingers), flexion contractures of the hip, and genu varum (bowlegs); Associated with advanced paternal age

Front 7

Q007. Addisonian Anemia

Back 7

A007. Pernicious anemia; antibodies to intrinsic factor or parietal cells; Vit B12 deficiency; megaloblastic anemia

Front 8

Q008. Addison's disease

Back 8

A008. Primary Chronic adrenal insufficiency; Autoimmune is MOST COMMON CAUSE in U.S. Miliary TB in developing countries; All 3 layers of cortex affected; Hypokalemia, Weakness; Diffuse hyperpigmentation; Hypotension, Hyponatremic volume contraction; No response to ACTH stimulation test; Elevated ACTH; Fasting hypoglycemia

Front 9

Q009. Adenine Deaminase deficiency

Back 9

A009. ADA deficiency, autosomal recessive disorder; ADA in purine salvage pathway, Excess ATP and dATP- >imbalance in nucleotide pool via feedback inhibition of ribonucleotide reductase -> prevents DNA synthesis-> Decreased Lymphocytes -> SCID (Lacking both B-cell and T- cell function); Causes SCID (2nd most common); Children are multiply infected with many organisms (Pneumocystis carin ii, Candida); do not survive without treatment. High levels of dATP accumulate in red cells

Front 10

Q010. Albinism

Back 10

A010. 1. AR: Tyrosinase Deficient (Complete): Defiency of copper- dependent tyrosinase (AR) or defective tyrosine transporter -- > decrease amount of melanin; 2. Defective Tyrosine Transporter (Partial); 3. Lack of Migration of Neural Crest Cells; Example of Locus Heterogeneity"

Front 11

Q011. Albright’s Syndrome

Back 11

A011. Polyostotic fibrous dysplasia; precocious puberty; café au lait spots; short stature; young girls

Front 12

Q012. Alcaptonuria (Ochronosis)

Back 12

A012. Homogentisate Oxidase Deficiency, AR trait; urine gradually darkens upon exposure to air. dark pigment also accumulates over years in the cartilage (ochronosis), and most patients develop arthritis in adulthood; Sx: Dark CT, pigmented sclera, **urine turns black on standing

Front 13

Q013. alpha1-Antitrypsin Deficiency

Back 13

A013. AR disorder-mutant AAT can't be secreted by liver; Accumulation in liver; PAS stain shows red granules in hepatocytes; Neonatal hepatitis with intrahepatic cholestasis; MOST COMMON CAUSE of cirrhosis in kids; Increased risk of HCC; Variant with no AAT synthesis have panacinar emphysema

Front 14

Q014. Alport syndrome

Back 14

A014. a rare X-linked disorder; a defect in type 4 collagen in the COL4A5 gene coding for the alpha-5 chain of type 4 collagen; hereditary nephritis, Gross or microscopic hematuria begins in childhood, ultimately results in renal failure. hearing loss, leading to sensorineural deafness; ocular abnormalities of the lens and cornea. Electron microscopy: alternating thickening and thinning of basement membrane is seen with splitting of the lamina densa.

Front 15

Q015. Alzheimer's Disease

Back 15

A015. extracellular b-amyloid plaques,; intracellular tau tangles in brain neurons. Progressive dementia

Front 16

Q016. Amyloid / Amyloidosis

Back 16

A016. AL (Amyloid Light chain): associated with heart, muscle and tongue; plasma cell disorders; AA protein: associated with kidney, liver, adrenals, pancreas, LN and spleen, chronic inflammatory diseases (RA, TB, osteomyelitis, syphilis); Amyloid Beta-protein (A4 amyloid): associated with Alzheimers; Amylin (Islet Amyloid Polypeptide/IAPP): associated with Insulin or glucagon (in DM-2); Transthyretin (senile Amyloidosis): associated with Elderly; Amyloidosis: Nephrotic Syndrome; Congo-red apple green birefringence

Front 17

Q017. Amyotrophic lateral sclerosis (Lou Gehrig disease)

Back 17

A017. relatively pure motor system disease, Destruction of Lateral Corticospinal Tract and Anterior Horns (α motor neurons) leading to UMN and LMN signs. affects both upper and lower motoneurons. typically begins at cervical levels of the cord and progresses either up or down the cord. present with bilateral flaccid weakness of the upper limbs and bilateral spastic weakness of the lower limbs. Lower motoneurons in the brain stem nuclei may be involved later; NO SENSORY DEFECTS! PURE MOTOR

Front 18

Q018. Angelman's Syndrome

Back 18

A018. also called the "happy puppet" syndrome. Microdeletion on maternal chromosome 15 {del[15]q11;q13]}. Affected children are normally grown and normally formed at birth. global developmental delay; speech is the most affected area, and most children never speak. Inappropriate laugh frequently; an atxic gait, often holding their elbows away from their bodies as they walk. Seizures,

Front 19

Q019. Anterior Spinal Artery Syndrome (Occlusion)

Back 19

A019. Spares only Dorsal Columns; All others lost.

Front 20

Q020. Apert syndrome

Back 20

A020. acrocephalosyndactyly; acrocephaly (coronal craniosynostosis); syndactyly

Front 21

Q021. Argyll-Robertson Pupil

Back 21

A021. Loss of light reflex constriction (contralateral or bilateral); Prostitute’s Eye; accommodates but does not react; Pathognomonic for tertiary Syphilis; Lesion pretectal region of superior colliculus

Front 22

Q022. Arnold-Chiari Malformation

Back 22

A022. Cerebellar tonsil herniation through foramen magnum

Front 23

Q023. asplenia / polysplenia syndromes

Back 23

A023. probably different degrees of the same disorder; asplenia (Ivemark syndrome, bilateral right sidedness), more severe; right lung lobar anatomy bilaterally; bilateral eparterial bronchi; associated with cardiac, GI/GU and situs anomalies; TAPVR(~100%),ECD(85%)and many others; Howell-Jolly bodies - RBC inclusions; polysplenia (bilateral left-sidedness), left lung lobar anatomy bilaterally, bilateral hyparterial bronchi; multiple spleens/splenules; bilateral SVCs, azygos continuation of IVC; associated with cardiac(less common than in asplenia), GI/GU and situs anomalies

Front 24

Q024. Ataxia-Telangectasia

Back 24

A024. Defect in DNA repair mechanisms. Autosomal Recessive. Leads to cerebellar ataxia and blanching nests of distended capillaries. Hypersensitive to X-RAY Radiation Triad:; 1. Ataxia (normally narrow-based); 2. Telangectasias (blanching) of eyes and skin (spider angiomas); 3. Sinopulmonary infections (IgA deficiency); increased serum alpha-feto protein

Front 25

Q025. Bare lymphocyte syndrome

Back 25

A025. failure of APC's to express class II MHC molecules; CD4 T cells aren't presented antigens for activation --> no maturation and activation of T cells (defective T cell maturation in the thymus, deficient activation of T cells in peripheral lymphoid organs)

Front 26

Q026. Barlow’s Syndrome

Back 26

A026. Floppy vale syndrome; women between 20-40 years old

Front 27

Q027. Barrett esophagus

Back 27

A027. Columnar metaplasia of lower esophagus; constant gastroesophageal reflux; increased risk of adenocarcinoma

Front 28

Q028. Bartter’s Syndrome

Back 28

A028. Hyperreninemia

Front 29

Q029. Basal cell nevus syndrome (Gorlin syndrome)

Back 29

A029. autosomal dominant; multiple nevoid basal-cell carcinomas; odontogenic keratocysts (OKCs); rib + vertebral anomalies; short metacarpal(s)

Front 30

Q030. Battered child syndrome

Back 30

A030. multiple assymetrical fractures; separation of distal epiphyses; irregularity and fragmentation of metaphyses; "bucket-handle" fracture; corner fracture of elbow, knee, ankle (sudden twisting motion); isolated spiral fracture; extensive periosteal reaction (subperiosteal hemorrhage); exuberant callus formation; cortical hyperostosis extending to epiphyseal plate; avulsion fracture at ligamentous insertion; subdural hematoma (most common); brain atrophy (up to 100%); infarction (50%); subdural hygroma; encephalomalacia; porencephaly

Front 31

Q031. Becker’s Muscular Dystrophy

Back 31

A031. X-linked recessive mutation in dystrophin gene; mutation, not a deficiency, in dystrophin protein; Similar to Duchenne, but less severe; mild cardiomyopathy, mild muscle weakness

Front 32

Q032. Bell’s Palsy

Back 32

A032. CNVII palsy; Affect entire face (recall that UMN lesion only affects lower face); Associated with AIDS, lyme disease, sarcoid, diabetes

Front 33

Q033. Berger's Disease

Back 33

A033. Other name: IgA Nephropathy; Nephritic Syndrome, causing hematuria in kids, but often presents as Nephrotic Syndrome; Increased IgA Production; OFTEN FOLLOWS URI; MESANGIAL IC deposition

Front 34

Q034. Bernard-Soulier Syndrome

Back 34

A034. Autosomal recessive; Deficiency of platelet Gp Ib (abnormally large platelets & lack of platelet-surface glycoprotein); Defective platelet adhesion; leads to increased bleeding time and decreased platelet count

Front 35

Q035. biliary cirrhosis, primary

Back 35

A035. autoimmune disease, destruction of the intrahelpatic bile ducts, with portal inflammation and scarring; middle aged women with automimmune disease; fatigue, pruritis; right upper quadrant pain; +AMA; cholestatic liver function tests; elevated alk phos; liver biopsy to confirm diagnosis; Treatment: urodeoxycholic acid slows the progression and relieves symptoms, liver transplant is curative

Front 36

Q036. Binswanger

Back 36

A036. subcortical leukencephalopathy; Diffuse loss of deep white matter - as hypertension

Front 37

Q037. Bland-White-Garland syndrome

Back 37

A037. anomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA)

Front 38

Q038. Bloom's syndrome

Back 38

A038. autosomal recessive; small body size; immunodeficiency; light-sensitive facial erythema; predisposed to cancer

Front 39

Q039. Boerhaave syndrome

Back 39

A039. complete, transmural laceration of esophagus etiology:; spontaneous (retching, EtOH); secondary to endoscopy, trauma, vagotomy, FB; sx: chest pain, shock, dyspnea, cyanosis; Pneumomediastinum, Hamman's crunch; grave prognosis; M > F; usually on LEFT; uncommonly sub-diaphragmatic

Front 40

Q040. Bowen’s Disease

Back 40

A040. Carcinoma in situ on shaft of penis; gray-white; increase risk of visceral ca

Front 41

Q041. Bracht-Wachter Lesions

Back 41

A041. Minute abscesses found in subacute bacterial endocarditis

Front 42

Q042. Brill-Zinsser Disease

Back 42

A042. Recurrences of rickettsia prowazaki up to 50 yrs later

Front 43

Q043. Briquet’s Syndrome

Back 43

A043. Somatization disorder; Psychological: multiple physical complaints without physical pathology

Front 44

Q044. Broca’s Aphasia

Back 44

A044. Motor Aphasia (area 44 & 45); Speech is slow and halting; intact comprehension

Front 45

Q045. Bronze diabetes

Back 45

A045. Pathognomonic for hemochromatosis; AR disorder with unrestricted Fe reabsorption; Hereditary hemochromatosis gene (HFE); Free radical damage; Cirrhosis, pancreas damage with Type I DM & malabsorption, restrictive cardiomyopathy, degenerative joint disease; Increased ferritin, serum Fe, % sat; Decreased TIBC

Front 46

Q046. Brown-Sequard syndrome

Back 46

A046. Hemisection of cord; contralateral loss of pain & temp; ipsilateral loss of fine touch, Proprioception (joint position sense, tactile discrimination, and vibratory sensations); Ipsilateral loss of UMN signs; At the level of the lesion, there will be an ipsilateral loss of all sensation, including touch modalities, and LMN signs

Front 47

Q047. Bruton's agammaglobulinemia

Back 47

A047. X-linked recessive, mutation in Btk gene; failure of pre-B cells to become mature B cells (B-cell maturation stops after the rearrangement of heavy chain genes) --> B cell levels in bloodstream and lymphoid organs are decreased/absent. Opsonization defect. patient with sinopulmonary infections after 6 months of age; decreased all serum Ig's; Decreased or abscent B cells

Front 48

Q048. Budd-Chiari Syndrome

Back 48

A048. IVC or hepatic vein occlusion; Centrilobular congestion and necrosis leading to congestive liver disease, Nutmeg liver; Associated with malignancy or congenital IVC webs, polycythemia vera, pregnancy, Sickle cell anemia; abdominal pain; hepatomegaly; ascites; portal HTN; liver failure, “hot” caudate lobe

Front 49

Q049. Buerger’s Disease

Back 49

A049. Acute inflammation of medium and small arteries of extremities; painful ischemia → gangrene; Seen almost exclusively in young and middle-aged men who smoke; intermittent claudication; superficial nodal phlebitis; cold sensitivity; Smoke cessation

Front 50

Q050. Caisson Disease

Back 50

A050. Nitric gas emboli

Front 51

Q051. Camptodactyly

Back 51

A051. congenital flexion contracture of the PIP join

Front 52

Q052. Cantrell syndrome

Back 52

A052. herniation of gut into pericardial sac; common anterior communication in diaphragm and pericardium; associated with congenital defects of sternum, heart, mesentery, anterior abdominal wall; must be excluded in presence of omphalocele

Front 53

Q053. Caplan syndrome

Back 53

A053. pneumonconiosis plus rheumatoid arthritis Combination of:; necrobiotic rheumatoid lung nodules; coal worker's pneumoconiosis; pulmonary findings may precede joint manifestations Findings:; round, peripheral nodules (0.5 - 5.0 cm), +/- cavitation; nodules associated with subQ rheumatoid nodules

Front 54

Q054. Carcinoid syndrome

Back 54

A054. Intestinal, lung endocrine tumors: Most common appendiceal tumor (location of carcinoid tumor if it is malignant: ileal tumor); indicates liver mets: Intestinal tumors must metastasize to liver to produce syndrome due to first pass metabolism of 5-HT; Flushing (increase 5-HT --> increase Bradykinin --> potent vasodilation); Wheezing (increase 5-HT ---> increase Bradykinin --> bronchoconstriction; Right-sided valvular disease (fibrosis); Secondary Pellagra - In carcinoid syndrome, all the tryptophan is shunted toward serotonin production, and decrease niacin. (Dermatitis, Dementia, Diarrhea); Treatment: Octreotide (decrease Production of serotonin by tumors)

Front 55

Q055. Carney syndrome

Back 55

A055. association of:; pheochromocytoma; paraganglioma (functioning); chondroma (multiple chondromatous hamartomas)

Front 56

Q056. Caroli disease

Back 56

A056. Congenital malformation bile ducts

Front 57

Q057. Carpal tunnel syndrome

Back 57

A057. caused by compromise of the median nerve within the tunnel formed by the carpal bones and flexor retinaculum; pain, sensory disturbance, and weakness in the distribution of the median nerve in the hand

Front 58

Q058. CHARGE

Back 58

A058. Coloboma,; Heart defects,; choanal Atresia,; Retarded growth,; Genitourinary abnormalities,; Ear anomalies

Front 59

Q059. Chediak-Higashi Disease

Back 59

A059. AR trait; defect in microtubules and lysosomal emptying à no lysosomal enzymes in phagosomes -> giant inclusions; infections (neutropenia) with strep & staph; albinism; cranial & peripheral neuropathy; bleeding diathesis

Front 60

Q060. Chilaiditi syndrome

Back 60

A060. interposition of colon between liver and right hemidiaphragm; causes elevation of right hemidiaphragm

Front 61

Q061. Chronic Bronchitis

Back 61

A061. increased Reid Index; excess mucus; productive cough for three consecutive months to 2 years; seen in smokers; possible cor pumonale

Front 62

Q062. Chronic granulomatous disease (CGD)

Back 62

A062. X-linked recessive, men predominance; NADPH Oxidase Deficiency à Can't Make H202, Can kill bateria that produce peroxide but not catalase (staph but not strep produces catalase, so can kill strep but not staph); Neutrophils and monocytes that phagocytose microbes are unable to kill them; Accumulation of phagocytes à granulomas. CGD patients suffer from chronic, recurrent infections with catalase-positive organisms. Negative Tetrazolium Test

Front 63

Q063. Churg-Strauss syndrome (allergic granulomatosis and angiitis)

Back 63

A063. granulomatous vasculitis with eosinophilia, Involves the lung, spleen, kidney; Asthma; sinusitis; skin lesions; wrist/foot drop; p-ANCA positive

Front 64

Q064. Coal Workers Pneumoconiosis

Back 64

A064. Carbon dust ingested by alveolar macrophages forms bronchiolar macules; may progress to fibrosis; plaques are asymptomatic, often benign but may progress to fibrosis; may be fatal due to pulmonary hypertension and *cor pumonale

Front 65

Q065. Cockayne syndrome

Back 65

A065. type of dysmyelinating disease; autosomal recessive; onset usually within 2nd year CT findings:; microcephaly; basal ganglion calcification; cerebral atrophy

Front 66

Q066. Colles fracture

Back 66

A066. Fracture of the lower inch of the radius

Front 67

Q067. Common variable immunodeficiency

Back 67

A067. Defect in B cell differentiation to plasma cells, inadequate antibody production, reduced IgM, IgG, IgA; ADULT immunodeficiency disorder. Patient with sinopulmonary infections, GI infections, pneumonia; decreased serum Ig's; autoimmune disease; lymphomas

Front 68

Q068. Complement C2/C4 deficiency

Back 68

A068. components of the classical pathway (humoral); immune complex-mediated diseases

Front 69

Q069. Complement C3 deficiency

Back 69

A069. severe infections --> usually fatal

Front 70

Q070. Congenital Adrenal Hyperplasia

Back 70

A070. Enzyme deficiency leads to cortisol deficiency which causes increased ACTH and bilateral hyperplasia of adrenal glands Enzyme-Deficiencies:; 17α-hydroxylase deficiency; 21α-hydroxylase deficiency (most common); 18β-hydroxylase deficiency

Front 71

Q071. congenital talipes equinovarus

Back 71

A071. foot is plantar-flexed and inverted

Front 72

Q072. Conn’s Syndrome

Back 72

A072. Primary hyperaldosteronism, most commonly due to benign adenoma; HTN; retain Na+ & H2O à hypernatremia; hypokalemia (causing metabolic alkalosis à muscle weakness, tetany); elevated aldosterone; decrease renin

Front 73

Q073. Cori’s Disease [Glycogen Storage Dx (Type III)]

Back 73

A073. Type III Glycogen storage disease (milder form of type I (Von Gierke's disease)); debranching enzyme: alpha-1,6 glucosidase deficiency à increase Glycogen, Gluconeogenesis is intact; Accumulation of glycogen in liver and heart; Muscle hypotonia; Normal blood lactate levels

Front 74

Q074. Cortical Necrosis, Diffuse

Back 74

A074. Bilateral Cortical Necrosis due to Infarction of both kidneys. Most likely due to simultaneous Vasospasm & DIC; Causes: Obestetric complications (abruptio placentae), SEPSIS

Front 75

Q075. Cowden syndrome

Back 75

A075. multiple hamartoma syndrome; GI-tract hamartomas (including stomach and colon); circumoral papillomatosis; nodular gingival hyperplasia; breast Ca; thyroid Ca

Front 76

Q076. CREST syndrome

Back 76

A076. More Limited form of scleroderma; C: calcinosis cutis; R: Raynaud's phenomenon; E: esophageal dysmotility; S: scleroderma; T: telangiectasias; Limited skin involvement (normally fingers and face); Associated with Anti-centromere Ab (C for CREST)

Front 77

Q077. Creutzfeld-Jakob disease

Back 77

A077. prion disease causing spongiform encephalopathy, cerebellar & cerebral degeneration; dementia, Very fast acting

Front 78

Q078. Cri-du-chat Syndrome

Back 78

A078. congenital deletion of short arm of chromosome 5; microcephaly; severe mental retardation; high-pitched crying/mewing; epicanthal folds; cardiac abnormalities

Front 79

Q079. Crigler-Najjar syndrome

Back 79

A079. Decreased to absent UDP-glucuronyl transferase for bilirubin conjugation; Type I: Glucuronyl transferase deficiency, severe with early childhood death because of kernicterus; plasmapheresis and phototherapy; Type II: bilirubin glucuronosyltransferase (UGT) absence or deficiency , responds to phenobarbital, increases liver enzyme synthesis

Front 80

Q080. Crohn’s Disease

Back 80

A080. - ileocecum is common, rectal sparing; transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas; abdominal pain & diarrhea; fever; malabsorption; fistulae between intestinal loops & abd structures

Front 81

Q081. Cronkhite-Canada syndrome

Back 81

A081. not inherited; no pattern; inflammatory glandular dilatation of stomach, colon, Small Bowel (50%); juvenile-type polyps, no malignant potential; protein and electrolyte loss; ectodermal abnormalities; Skin and appendages abnormality: alopecia, hyperpigmentation, nail loss (onycholysis); prognosis: males- remits; females - die in 6-18 months due to cachexia

Front 82

Q082. Crouzon syndrome (craniofacial dysostosis)

Back 82

A082. autosomal dominant, Nucleo-tide alterations causing amino-acid substitutions at the FGFR2 gene on chromosome 10, Nearly 60 percent of cases are new mutations; paternal age older than 35 years; premature closure of sutures(craniosynostosis): usually coronal ==> brachycephaly, all sutures ==> Kleeblatschaedel; hypoplasia of facial bones; beaked ("parrot") nose; significant hypertelorism, proptosis. Pathology of the ear and cervical spine is common. Infants with Crouzon's disease do not have anomalies of the hands and feet as do infants with Apert's syndrome.

Front 83

Q083. Curling’s Ulcer

Back 83

A083. acute gastric ulcer associated with severe burns

Front 84

Q084. Cushing syndrome

Back 84

A084. Etiology: Pituitary adenoma (70%), adrenal hyperplasia or adenoma 20%, and ectopic Cushing syndromes (10%), Iatrogenic (prolonged corticosteroid therapy); Hyperglycemia, hyperinsulinism, weight gain; Muscle weakness; thin extremities, Muscle weakness; truncal obesity; moon facies; buffalo hump; purple striae; osteoporosis; diastolic hypertension Dex test: Only useful with increase ACTH; 1. ACTH tumor (pituitary): increase cortisol with low dose Dex; decrease cortisol with high dose Dex; 2. ACTH tumor (ectopic): increase cortisol with both high and low dose dex. **Normal - decrease cortisol after low dose

Front 85

Q085. Cushing’s Ulcer

Back 85

A085. Acute gastric ulcer associated with CNS trauma

Front 86

Q086. Cystic Fibrosis

Back 86

A086. AR Trait; Defect: mutation on cholride transporter CFTR gene on chromosome 7 (mostly deletion of Phe 508); Secretion of abnormally thick mucous due to defect Cl- channel; increased risk of Pseudomonas and S. aureus infection, chronic bronchitis, bronchiectasis; male infertility from vas deferens defect; pancreatic insufficiency à fat-malabsorbtion (Vit ADEK deficiency and steatorrhea); increase concentration of Cl- ions in sweat test is diagnostic; Treatment: N-acetylcysteine

Front 87

Q087. Dandy-Walker malformation

Back 87

A087. rare congenital malformation, obstruction of foramina of Luschka + Magendie; Cystic dilatation fourth ventricle; agenesis or hypoplasia of the cerebellar vermis,; enlargement of the posterior fossa. A large number of concomitant problems may be present (agenesis of corpus callosum, encephalocele); Approximately 70-90% of patients have postnatal hydrocephalus

Front 88

Q088. de Quervain’s Thyroiditis (subacute thyroiditis)

Back 88

A088. Postviral destruction thyroid; Causing hyperthyroidism than hypothyroidism; Self-limiting

Front 89

Q089. Developmental displacement of the hip

Back 89

A089. laxity of the ligaments resulting in subluxation of head of the femur

Front 90

Q090. Diabetes Insipidus, Central

Back 90

A090. Due to decrease ADH secretion; Causes:; Pituitary Tumor; Surgery/Trauma; Histiocytosis X; Sx: Intense Thirst and Polyuria. Serum Osmolality increase; Hypernatremia and hypotonic urine; Patients will respond to desmopressin; Treatment: Nasal Desmopressin

Front 91

Q091. Diabetes Insipidus, Nephrogenic

Back 91

A091. Lack of response by kidney to ADH; Causes:; Genetic; secondary to hypercalcemia or lithium; Demeclocyline (ADH Antagonist); Findings: Serum Osmolality increase; Hypernatremia and hypotonic urine; Patients will not respond to desmopressin stimulation test; Treatment: Hydrochlorthiazide, Amiloride, or Indomethacin

Front 92

Q092. Diabetic Glomerulonephropathy

Back 92

A092. Basement Membrane gets glycosylated from high glucose load; causes thickening of GBM and efferent arterioles à increased GFR à mesangial damage. Kimmelstiel-Wilson "wire loop" lesions - acellular ovoid lesions in periphery.

Front 93

Q093. Dialysis Cysts of Kidneys

Back 93

A093. CORTICAL and MEDULLARY cysts due to dialysis

Front 94

Q094. diethylstilbestrol syndrome

Back 94

A094. category X teratogen; T-shpaed uterus; vaginal adenosis; predisposition to vaginal clear cell carcinoma; cervical hood; incompetent cervix; preterm delivery

Front 95

Q095. DiGeorge Syndrome

Back 95

A095. 22q11 deletion à abbarant 3rd and 4th branchial pouch development à missing/underdeveloped thymus, thyroid; no parathyroids àhypocalcemia à Cramp, Seizure, muscle twitch; T cell defect à recurrent viral and fungal infections; delayed type IV hypersensitivity; can't diagnose from CXR

Front 96

Q096. Down syndrome

Back 96

A096. trisomy 21 (95%) or robertsonian translocation 4% (14;21), 1% mosaicism (nonmaternal); 1:700 (most common chromosomal disorder); epicanthial folds; flat faces, flat feet; simian crease in hand; toe gap between first 2 toes; Congenital heart defect (ASD); Bone: Instability at C1-C2 junction, scoliosis, dislocated hips, dislocated patella; increased ALL and Alzheimers; Dx with low alphaFP, high beta-HCG, low estriol, high inhibin A; Prenatal screening: increase alpha-fetoprotein, decrease beta-hCG and increase nuchal translucency

Front 97

Q097. Drash syndrome

Back 97

A097. male pseudohermaphroditism; progressive nephritis; Wilms tumor

Front 98

Q098. Dressler’s Syndrome

Back 98

A098. Post-MI Fibrinous Pericarditis; autoimmune fibrinous pericarditis; fever and peripleural chest pain (several weeks after MI)

Front 99

Q099. Dubin-Johnson syndrome

Back 99

A099. Benign autosomal recessive disorder; Genetic defect in excretion of conjugated bilirubin into intrahepatic bile ducts; Black pigment in hepatocytes; grossly black liver; Conjugated hyperbilirubinemia; No clinical consequences

Front 100

Q100. Duchenee's Muscular Dystrophy

Back 100

A100. X-linked recessive; Frame shift-mutation; deletion of dystrophin gene (Duchennes is deleted dystrophin, Beckers is mutation); onset before 5 years old; weakness begins in the pelvic girdle muscles and progresses superiorly; PSEUDOHYPERTROPHY OF CALF MUSCLES due to fibrofatty replacement of muscles; cardiac myopathy; Use of Gower's maneuver, requiring assistance of the upper extremities to stand up (proximal lower limb weakness)

Front 101

Q101. Dwarfism

Back 101

A101. Rhizomelic: arms or thighs that are short relative to the entire limb Mesomelic: disproportionately short forearms or legs Acromelic: disproportionately short hands or feet

Front 102

Q102. Dyke-Davidoff-Masson syndrome

Back 102

A102. unilateral skull + sinus hypertrophy: mainly frontal sinus + mastoid air cells; atrophy of ipsilateral cerebral hemisphere (in childhood); cerebral infarction (most often); Others: infection, trauma, congenital hypoplasia

Front 103

Q103. Eaton-Lambert syndrome

Back 103

A103. Commonly a paraneoplastic syndrome of small-cell lung cancer; Proximal muscular weakness; Weakness improves with repeated contraction; Mechanism: production of autoantibodies directed against the calcium channel.

Front 104

Q104. Edwards syndrome

Back 104

A104. Trisomy 18, 1:8000; Clenched hands; small jaw; low-set ears; retardation; prominent occiput; heart defects; rocker-bottom feet; die at 1

Front 105

Q105. Ehlers-Danlos (ED) Syndrome

Back 105

A105. AD or AR, Defect in collagen synthesis or structure; nine types, ED type IV is a defect in type III collagen. Hyperextensibile skin; Hypermobile joints, joint dislocation; Tendency to bleed (easy bruising), poor wound healing; Associated with aneurysm, aorta dissection, organ rupture, rarely, tortuous arch, ectatic pulmonary artery, even medullary sponge kidney

Front 106

Q106. Eisenmenger syndrome

Back 106

A106. Late cyanotic shunt secondary to long-standing VSD, ASD, or PDA, shift from L-R shunt to R-L due to pulmonary hypertension; pulmonary aterial HTN; heart size normal (or slightly increased); big central PAs with abrupt tapering; bidirectional or reversed cardiac shunt

Front 107

Q107. Ellis-van Creveld syndrome

Back 107

A107. chondro-ectodermal dysplasia; hereditary (esp. seen in Amish of Pennsylvania); polydactyly (100%); congenital heart disease (60%); abnormalities of cutaneous appendages (skin, hair, nails

Front 108

Q108. empty sella syndrome

Back 108

A108. Primary: Idiopathic, most commonly reported in middle- aged obese women (associated with DM, HTN, normal pituitary function); secondary: pituitary adenoma, surgery or irradiation, communicating hydrocephalus, or familial (very rare); xray findings: sella normal or increased, intrasellar herniation of subarachnoid space; symptoms: headache, visual disorders, +/- decreased pituitary function, CSF rhinorrhea

Front 109

Q109. Erb-Duchenne Palsy

Back 109

A109. Trauma to superior trunk of brachial plexus; Waiter’s Tip; The arm cannot be raised; Elbow flexion is weakened; Paralysis of the rhomboids and serratus anterior

Front 110

Q110. Essential Fructosuria

Back 110

A110. AR; Defect in fructokinase --> benign Asymptomatic condition; Elevated Fructose in blood and urine

Front 111

Q111. Euthyroid sick syndrome

Back 111

A111. Circulating T3 decrease while rT3 increases; Type I: 5' deiodinase is inhibited by metabolic shock; Type II: 5' monodeiodinase still functions so the hypothalamic feeedback mechanism doesn't see the problem.

Front 112

Q112. Eyrthroplasia of Queyrat

Back 112

A112. carcinoma in situ on glans penis; red, soft lesion

Front 113

Q113. Fabry's Disease

Back 113

A113. Lysosomal Storage Disease; XR (unique); Alpha galactosidase A Deficiency à Ceramide Trihexoside Accumulation; Peripheral Neuropathy (hands/feet, Pain in extremities); Ocular abnormalities: Angiokeratomas; CV/Renal Disease

Front 114

Q114. Familial Adenomatous Polyposis (FAP)

Back 114

A114. AD - APC gene on Ch 5 (polyp); Covered with polyps in colon post-puberty à CANCER

Front 115

Q115. Familial Dyslipidemias, Type I

Back 115

A115. Lipoprotein Lipase or Apo CII Deficiency; Increased Chylomicros à Elevated Blood levels of TG and Cholesterol; Pancreatitis; Hepatosplenomegaly; eruptive/pruritic xanthomas; No risk for atherosclerosis"

Front 116

Q116. familial Dyslipidemias, Type IV

Back 116

A116. Hepatic Overproduction of VLDL à Increased VLDL à Increased TG; Pancreatitis

Front 117

Q117. Familial hypercholesterolemia (hyperlipidemia type IIA)

Back 117

A117. Defective or absence of LDL receptor= increaseLDL; heterozygotes (1:500) have cholesterol around 300 mg/dL; homozygotes (rare) have cholesterol around +700 mg/dL: severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20

Front 118

Q118. Fanconi’s Syndrome

Back 118

A118. Impaired proximal tubular reabsorption; Secondary  to Heavy metal (lead poisoning, Wilson's Disease), Drugs (Cisplatin or Tetracycline), Glycogen Storage Disease,; glycosuria, hyperphosphaturia, aminoaciduria; Rickets/Osteomalacia (decrease PO3 reabs.); Metabolic Acidosis (decrease HCO3- reabs.); Hypokalemia (decrease proximal Na+ reabs à increase distal Na+ reabs.)

Front 119

Q119. Felty’s Syndrome

Back 119

A119. Rheumatoid arthritis; neutropenia; splenomegaly

Front 120

Q120. fetal alcohol syndrome

Back 120

A120. IUGR; midfacial hypoplasia; developmental delay; short palpebral fissures; long filtrum; joint anomalies; cardiac defects

Front 121

Q121. fetal hydantoin syndrome

Back 121

A121. due to Dilantin, category D teratogen; IUGR; craniofacial dysmorphism; mental retardation; microcephaly; nail hypoplasia; heart defects

Front 122

Q122. Focal Segmental Glomerulosclerosis (FSGS)

Back 122

A122. Nephrotic syndrome - Proteinuria & Edema; Light microscopy finding: focal sclerosis and hyalinosis; Most common glomerular disease in HIV patients. Very severe in HIV patients

Front 123

Q123. Fragile X Syndrome

Back 123

A123. The 2nd most mental retardation behind Down syndrome. X-linked, CGG repeat on FMR1 gene in the long arm of the X chromosome (Xq27.3), stops MGluR5 receptor in brain; Males: 100% penetranc; Females: 60% penetrance; large ears; elongated face and prominent jaw; hypermobile joints; macroorchidism in postpubertal males.

Front 124

Q124. Friedrich's Ataxia

Back 124

A124. Autosomal Recessive; Trinucleotide (GAA) in frataxin gene; Presents in childhood with kyphoscoliosis; Impaired Mitochondrial functioning; Findings: Frequent falls, Hypertrophic Cardiomyopathy, staggering gait.

Front 125

Q125. Fructose Intolerance

Back 125

A125. AR inheritance; Defiency of aldolase B à Accumulation of Fructose 1 phosphate à Decrease in Available Phosphate à Inhibition of Glycogenolysis and Gluconeogenesis; hypoglycemia; jaundice; cirrhosis; vomiting; NO CATARACTS (vs. Galactosemia); Treatment: Decrease intake of fructose and sucrose

Front 126

Q126. G6PD deficiency

Back 126

A126. XLR inheritance; Can't form NADPH in RBCs à hemolytic anemia due to poor RBC defense against oxidizing agents; Triggered by Fava Beans, Sulfonamides, Primaquine, antiTB drugs, Infections; Heinz bodies and Bite cells; Greek patient comes in with symptoms of anemia and has eaten fava beans

Front 127

Q127. Galactokinase deficiency

Back 127

A127. AR trait; Deficient in Galactokinase à Increase Galactose à Increase Galactitol (osmotically active); elevated galactose in blood and urine; infantile cataracts, may present as failure to tract objects or develop a social smile

Front 128

Q128. Galactosemia

Back 128

A128. AR trait; Absence of galactose-1-P uridytransferase, accumulation of toxic substances; Failure to thrive; jaundice; hepatomegaly; infantile cataracts (due to accumulation of galactitol in eye); mental retardation; Treatment: Exclude galactose and lactose in diet

Front 129

Q129. Gardner's Syndrome

Back 129

A129. Autosomal dominant; Variant familial adenomatous polyposis à colon cancer, duodenal cancer; bone: osteomas, exostoses; soft tissue tumors: desmoid tumors, epidermal cysts, lipoma, leiomyomas, fibromatosis; Eye: cortical thickening, retinal hyperplasia, pigmented ocular fundus; Dental abnormalities (caries, extra teeth, odontomas)

Front 130

Q130. Gaucher disease

Back 130

A130. AR trait, Lysosomal enzyme Glucocerebrosidase missing; Accumulation of glucocerebroside in brain, bone marrow, spleen, liver beta-glucocerebrosidase; Hepatosplenomegaly; Bone crises: femoral head & long bone erosion or aseptic necrosis of femur; Neurologic dysfunction; Gaucher macrophages (like crumped tissue paper) in bone marrow: anemia

Front 131

Q131. Gerstmann Syndrome

Back 131

A131. If the lesion is confined to just the angular gyrus (area 39), the result is a loss of ability to comprehend just written language (alexia) and to write it (agraphia),; spoken language may be understood Alexia with agraphia in pure angular gyrus lesions is often seen with three other unique symptoms:; acalculia (loss of the ability to perform simple arithmetic problems); finger agnosia (inability to recognize one's fingers),; right-left disorientation. This constellation of deficits constitutes Gerstmann syndrome and underscores the role of this cortical area in the integration of how children begin to count, add, and subtract using their fingers.

Front 132

Q132. Gilbert syndrome

Back 132

A132. Common benign inherited disorder; Mechanism: bilirubin UDP-glucuronosyl transferase (UGT) deficiency; Unconjugated hyperbilirubinemia; Jaundice is related to stress (fasting, infection, etc.). No clinical consequences.

Front 133

Q133. Glanzmann’s Thrombasthenia

Back 133

A133. Autosomal recessive, Deficiency of Gp lIb-IlIa on platelets; deficient platelet aggregation

Front 134

Q134. Glycolytic Enzyme Deficiency

Back 134

A134. Pyruvate Kinase Deficiency (mostly) or Phosphoglucose Isomerase Deficiency (rare); Hemolytic anemia; Rememeber: RBCs depend solely on glycolysis for energy – can’t maintain Na-K pump à lysis; No Heinz Bodies (vs G6PD def)

Front 135

Q135. Goldenhar syndrome (oculo-auriculo-vertebral spectrum or hemifacial microsmia)

Back 135

A135. developmental malformation of the first and second branchial arches. epibulbar dermoids,; auricular appendages or malformations,; malformations of the auricle,; skeletal anomalies (including hemifacial microsomia and/or hemivertebra or butterfly vertebra. facial defects can include microphthalmos, strabismus, eyelid coloboma, preauricular fistulas, macrostomia, hemifacial microsomia, maxillary and mandibular hypoplasia, cleft palate, cleft lip

Front 136

Q136. Goodpasture syndiome

Back 136

A136. anti-GBM disease: Production of antibodies directed against basement membrane (type IV collagen), which result in damage of the lungs and the kidney. Seen in men in their 20’s; Pulmonary involvement typically precedes the renal disease, Present with pulmonary hemorrhage and recurrent hemoptysis, CXR bilateral fluffy infiltrates; Most develop rapidly progressive glomerulonephritis (RPGN); Light microscopy: hypercellularity, crescents, and fibrin; Electron microscopy: no deposits, but there is glomerular basement membrane (GBM) disruption; Immunofluorescence: smooth and linear pattern of IgG and C3 in the GBM. Treatment: plasina exchange, steroids, and cytotoxic drugs.

Front 137

Q137. Gorham-Stout syndrome.

Back 137

A137. Dissolution of bone caused by either lymphangiomas or hemangiomas

Front 138

Q138. Grave's disease

Back 138

A138. MOST COMMON CAUSE of hyperthyroidism/toxicosis; HLA-B8, DR3 associated Autoimmune disease with stimulating Anti-TSH-R IgG; Low TSH, High T3 / T4, goiter; proptosis, Exophthalmos; pretibial myxedema

Front 139

Q139. Gullian-Barre Syndrome

Back 139

A139. inflammation/demyelination of peripheral nerves, associated with cross-reacting infections; ascending muscle weakness; cardiac depression; Self-limiting

Front 140

Q140. Hamman-Rich syndrome

Back 140

A140. Idiopathic pulmonary fibrosis; autoimmune likely secondary to viral URI; rarely seen in kids; ramifying, streaky densities (interstitial fibrosis) in middle + lower lung fields +/- superimposed patchy infiltrates

Front 141

Q141. Hand-Schuller-Christian

Back 141

A141. Chronic progressive histiocytosis

Front 142

Q142. Hartnup Disease

Back 142

A142. AR Trait; Defective neutral amino acid transporter on renal and intestinal epithelial cells; Increase tryptophan excretion in urine à PELLAGRA; rashes, neuro probs

Front 143

Q143. Hashimoto’s Thyroiditis

Back 143

A143. Autoimmune hypothyroidism, Cytotoxic T cell destruction of thyroid parenchyma, mild non-tender goiter; HLA-Dr3 and HLA-Dr5 association; #1 cause of hypothyroidism, cold intolerance, weight gain, brittle hair; May have transient hyperthyroidism. Low T3 /T4 & High TSH due to gland destruction and T4 release; Antimicrosomal and antithyroglobulin Abs develop as a result of gland injure

Front 144

Q144. hemochromatosis

Back 144

A144. AR trait, excessive fe absorption in intestines à Fe accumulation in liver, pancreas, skin, heart, joints; Liver: liver disease, cirrhosis; Joint: arthritis; Prancreas abdominal pain, DM; Heart: cardiac arrhythmias, Cardiomyopathy; bronzing of the skin; liver biopsy required for diagnosis

Front 145

Q145. Hemolytic uremic syndrome (HUS)

Back 145

A145. Occurs most commonly in children; Follows a gastroenteritis with bloody diarrhea; Organism: verotoxin-producing E. coli 0157:H7; Similar clinical pentad,

Front 146

Q146. hemophilia

Back 146

A146. sex-linked recessive; arthropathy from repeated intraarticular bleeds; pseudotumors

Front 147

Q147. Henoch-Schoenlein syndrome

Back 147

A147. acute, self-limited arteritis, Hypersensivity vasculitis = allergic purpura; often follows upper respiratory or urinary tract infection; Children common; Fever; purpura; nephritis; abdominal pain; joint pain; thick SB folds; thumbprinting in SB or colon

Front 148

Q148. hepatorenal syndrome

Back 148

A148. decreased renal perfusion b/c RAAS gets activated from decreased blood pressure in splanchnic circulation, so there is peripheral vasoconstriction --> poor renal perfusion; azotemia, oliguria; hyponatremia; hypotension; low urine sodium; octreotide + midodrine: palliative; liver transplant is the only cure

Front 149

Q149. Hereditary hemorragic telangiectasia (Osler-Weber-Rendu syndrome

Back 149

A149. AD, disorder of blood vessels; Telangiectasia; epistaxis; Skin discoloration; arteriovenous malformations

Front 150

Q150. Hereditary Nonpolyposis colorectal Cancer (HNPCC)

Back 150

A150. Defect: Mismatch repair à proofreading ability defective

Front 151

Q151. Hereditary Spherocytosis

Back 151

A151. AD Trait; Defect: spectrin or ankyrin; Sx: hemolytic anemia (increase MCHC); Treatment: Splenectomy

Front 152

Q152. Hers Disease

Back 152

A152. Hepatic glycogen phosphorylase deficiency; relatively mild disease; hypoglycemia; hyperlipidemia; hyperketosis; Hepatomegaly and growth retardation may be present in early childhood

Front 153

Q153. Hirschsprung's disease

Back 153

A153. Aganglionic megacolon, Sprung colon; Congenital megacolon lacking enteric nervous plexuses; Failure of neural crest cell migration; Risk is increased with Down syndrome; Dilated colon is proximal to constricted aganglionic segment; Chronic constipation early in life

Front 154

Q154. Holt-Oram syndrome

Back 154

A154. autosomal dominant; congenital heart disease, usually a septal defect; upper limb defect, triphalangeal thumb (uncommon in other disorders)

Front 155

Q155. Homocystinemia

Back 155

A155. Cystathionine p-synthase deficiency or Methyltetrahydrofolate-homocysteine methyltransferase deficiency à Accumulation of homocystine in blood; cardiovascular disease; deep vein thrombosis; thromboembolism, and stroke; dislocation of the lens (ectopic lens); mental retardation; atherosclerosis in childhood, myocardial infarctions before 20 years of age.

Front 156

Q156. Horner’s Syndrome

Back 156

A156. Ptosis; miosis; anhidrosis; lesion of cervical sympathetic nerves often secondary  to a Pancoast tumor or Brown-Sequard hemisection of cord, or late syringomyelia

Front 157

Q157. Hunter syndrome

Back 157

A157. MPS II (Mucopolysaccharidosis); X-linked recessive inheritance, Deficiency of L- iduronosulfate sulfatase à Dermatan Sulfate Accumulation, Milder form of Hurler’s; Group of lysosomal storage disorders characterized by deficiencies in the lysosomal enzymes required for the degradation of mucopolysaccharides (glycosaminoglycans); mild developmental delay; mild gargoylism; mild airway obstruction; but has aggressive behavior; no corneal clouding

Front 158

Q158. Huntington disease

Back 158

A158. an autosomal dominant condition, triplet repeat mutation (CAG) of the Huntington gene on chromosome 4 produces an abnormal protein (Huntington), which is neurotoxic. progressive dementia; loss of motor control, Choreiform movements. Depression; This is a slowly progressing disease, with an average duration of approximately 15 years. Atrophy of caudate nucleus, putamen (striatum) & frontal cortex; low GABA and ACh

Front 159

Q159. Hurler syndrome

Back 159

A159. MPS I (Mucopolysaccharidosis), Severe form; Deficiency of a-L-iduronidase à Heparan Sulfate and Dermatan Sulfate Accumulation; 1 in 10000 births; Mental retardation; Cloudy cornea; Hepatosplenomegaly; Skeletal & joint deformities: kyphosis, dwarfism, long bones are short and thick; phalanges of hands - coarse texture, wide shafts, tapered proximal ends (esp. metacarpals); coarse facial features: thick everted lips, large tongue, small malformed teeth; Cardiac lesions; gargoylism; airway obstruction; J-shaped sella; prognosis: death in early teens

Front 160

Q160. Hutchinson syndrome

Back 160

A160. primary adrenal neuroblastoma; extensive skeletal metastases, particularly skull; proptosis (metastases to orbit); bone pain

Front 161

Q161. Hyper-IgM syndrome

Back 161

A161. X-linked, defect CD40L on Th1 helper cells (leads to inability to class-switch) à defective B cell heavy chain class switching; baby presents with severe pyogenic infections, most common with staph aureus; high IgM, very low IgG, IgA and IgE

Front 162

Q162. hypoplastic left heart syndrome

Back 162

A162. underdevelopment of the left side of the heart; aortic valve atresia; hypoplastic ascending aorta; hypoplastic/atretic mitral valve; endocardial fibroelastosis; most common cause of CHF in neonate; 25% of cardiac deaths in 1st week of life; prognosis if untreated: 100% fatal by 6 weeks; hemodynamics: pulmonary venous return is diverted from LA to RA through ASD, RV supplies pulmonary artery, ductus arteriosus, descending aorta (antegrade flow), aortic arch, ascending aorta, coronary circulation (retrograde flow), leads to RV work overload and CHF; Treatment: Norwood procedure (palliative) - three stage surgery that results in the RA feeding the pulmonary circulation and the RV feeding the systemic circulation. Heart transplant for cure

Front 163

Q163. I cell disease (Inclusion cell disease)

Back 163

A163. AR inheritance; Lysosomal enzyme disease: Defective trafficking via mannose 6-phosphorylation Deficiency (failure of adding mannose-6-P to lysozyme proteins); Developmental delay; Coarse facial features; Corneal clouding; high plasma levels of lysozyme enzymes; Often Fatal in Childhood

Front 164

Q164. IgA deficiency

Back 164

A164. MOST COMMON CAUSE of B-cell defect; infections of mucosal surfaces; sinus and lung infections, milk allergies, diarrhea, giardiasis

Front 165

Q165. Intermittent Porphyria, Acute

Back 165

A165. Uroporphyrinogen-I Synthase Deficiency. late-onset autosomal dominant disease. Abdominal pain,; Neuropathy, Anxiety, paranoia, and depression,; Excretion of ALA (delta-aminolevulinic) and PBG (porphobilinogen),; In severe cases, dark port-wine color to urine on standing. Never give barbiturates

Front 166

Q166. Jacksonian Seizures

Back 166

A166. Epileptic events originating in the primary motor cortex (area 4)

Front 167

Q167. Job’s Syndrome

Back 167

A167. Immune deficiency: Helper T cells do not produce interferon gamma, so neutrophils fail to respond to chemotactic stimuli; Defective neutrophilic chemotactic response = repeated infections , “cold” abscesses; Commonly seen in light-skinned, red-haired girls; Coarse facies, baby teeth; increased IgE levels & Eczema

Front 168

Q168. Kaposi Sarcoma

Back 168

A168. Malignant vascular tumor; HHV8 in homosexual men

Front 169

Q169. Kartagener syndrome (dysmotile cilia syndrome)

Back 169

A169. Autosomal recessive, Immotile cilia due to defect of dynein arms; situs inversus; sinusitis; bronchiectasis; deafness; Male and Female infertility; defiency of dynein arms of cilia

Front 170

Q170. Kasabach-Merritt syndrome

Back 170

A170. thrombocytopenia caused by sequestration and destruction of platelets in a large cavernous hemangiomas; usually seen in infants, rare in adults

Front 171

Q171. Kawasaki disease

Back 171

A171. mucocutaneous lymph node syndrome. Involves Large, medium-sized, and small arteries, Segmental necrotizing vasculitis, Weakened vascular wall may undergo aneurysm formation. Commonly affects infants and young children (age <4); Japan, Hawaii, and U.S. mainland; Acute febrile illness; Conjunctivitis; erythema and erosions of the oral mucosa, Strawberry tongue; Generalized desquamative maculopapular skin rash; Lymphadenopathy; Coronary artery commonly affected (70%). Self-limited course; Mortality rate of 1-2% due to rupture of a coronary aneurysm or coronary thrombosis. Treatment: IV Ig, Aspirin

Front 172

Q172. Klein-Waardenburg syndrome

Back 172

A172. All of the tissues affected are derived from embryonic tissue in which PAX-3 is expressed. Dystopia canthorum (lateral displacement of the inner corner of the eye); Pigmentary abnormalities (frontal white blaze of hair, patchy hypopigmentation of the skin, heterochromia irides); Congenital deafness; Limb abnormalities

Front 173

Q173. Klinefelter’s Syndrome

Back 173

A173. 47, XXY; Long arms; Sterile/infertility; Hypogonadism

Front 174

Q174. Klippel-Feil syndrome

Back 174

A174. segmental abnormalities of the cervical spine due to defective embryogenesis, fused vertebrae, esp. cervical spine (C3-C4); elevation of scapula (Sprengel deformity); omocervical bones; GU abnormalities (66%); renal agenesis (33%); deafness (33%)

Front 175

Q175. Klumpke's Palsy

Back 175

A175. Lower Brachial Plexus Injury; Increased Risk with Cervical Rib; Caused by Shoulder Dysotcia at birth (think grabbing a tree branch while falling); Atrophy of Thenar and Hypothenar Eminences (Median and Ulnar nerves); Interosseus Muscle atrophy (Ulnar); Sensory deficits on medial side of forearm (C8-T2 distribution); Disappearance of radial pulse upon moving head toward OPPOSITE side (compression of subclavian artery)

Front 176

Q176. Kluver-Bucy Syndrome

Back 176

A176. Bilateral lesions of amygdala and hippocampus; hypersexuality; Placidity; Psychic blindness; Hypermetamorphosis; Increased oral exploratory behavior; Anterograde amnesia.

Front 177

Q177. Korsakoff Syndrome

Back 177

A177. Lesions of the mammillary bodies occur in Korsakoff syndrome; usually associated with thiamine deficiency due to chronic alcoholism; Both anterograde and retrograde amnesia; confabulations

Front 178

Q178. Krabbe's Disease

Back 178

A178. AR trait, Lysosomal Storage Disease; Galactocerebrosidase Deficiency à Galactocerebroside Accumulation in cerebrum à progressive neurologic degeneration; Peripheral Neuropathy; Developmental Delay; Optic Atropy; Globoid Cells

Front 179

Q179. Krukenberg Tumor

Back 179

A179. Adenocarcinoma with signet-ring cells; typically originating from the stomach metastases to the ovaries

Front 180

Q180. Lactose intolerance

Back 180

A180. Age Dependent / Hereditary / May follow gastroenteritis; Lactase Deficiency; Loss of Brush Border Enzyme; Bloating, flatulence, cramps, osmotic diarrhea

Front 181

Q181. Laennec’s Cirrhosis

Back 181

A181. Alcoholic cirrhosis

Front 182

Q182. Lambert-Eaton Syndrome

Back 182

A182. Neuromuscular Junction Disease with autoantibodies to PREsynaptic Ca channels. Results in decrease ACh release. Symptoms: Proximal muscle weakness; PARANEOPLASTIC syndrome (Associated with Small Cell Lung Cancer); **Symptoms IMPROVE with use**

Front 183

Q183. Leber's hereditary Optic neuropathy

Back 183

A183. Degeneration of retinal ganglion gells and axons; Mitochondrial Inheritance; Acute loss of central vision (bilaterally)

Front 184

Q184. Lesch Nyhan Syndrome

Back 184

A184. X-linked recessive condition, HGPRT deficiency; Aggression; self mutilation; choreoathetosis; hyperuricemia, gout; CNS deterioration, mental retardation; yellow-orange crystals of uric acid in diaper

Front 185

Q185. Letterer-Siwe syndrome

Back 185

A185. Acute disseminated Langerhans cell histiocytosis

Front 186

Q186. leukocyte adhesion deficiency (LAD)

Back 186

A186. a rare autosomal recessive disease; absence of CD18 à defect migration of leukocytes. The first indication of this defect is often omphalitis, a swelling and reddening around the stalk of the umbilical cord. no more susceptible to virus infection than are normal controls; they suffer recurrent, chronic bacterial infections; frequently have abnormally high numbers of granulocytes in their circulation; leukocyte migrations into sites of infection is not possible, so abscess and pus formation do not occur.

Front 187

Q187. Libman-Sacks endocarditis

Back 187

A187. endocarditis with small vegetations on both sides of the valve leaflets; do not embolize; leading to mitral stenosis; associated with SLE

Front 188

Q188. Li-Fraumini syndrome

Back 188

A188. Germ-line mutation of p53 on chromosome 17; High rate of many types of tumors

Front 189

Q189. Lutembacher’s Syndrome

Back 189

A189. septum secundum atrial septal defect; mitral stenosis

Front 190

Q190. Lynch Syndrome

Back 190

A190. autosomal dominant familial colorectal CA; proximal colon cancer due to mutations in DNA mismatch repair; also called HNPCC

Front 191

Q191. Mafucci syndrome

Back 191

A191. Rare, multiple enchondromata; 40 - 45% malignant transformation à chondrosarcoma; multiple cavernous hemangiomata; may degenerate à angiosarcoma; Cf: Ollier disease

Front 192

Q192. majewski

Back 192

A192. short rib; polydactyly; facial cleft

Front 193

Q193. Mallory-Weis Syndrome

Back 193

A193. men over 40, alcoholics; tear in mucosa of cardia (GE junction or proximal stomach) secondary to wretching; vomiting of blood Bleeding; Diagnosis: endoscopy; Rx: IA vasopressin; Complications: Boerhaave syndrome: esophageal rupture (rare)

Front 194

Q194. Maple Syrup Urine Disease

Back 194

A194. Branched-Chain alpha-Ketoacid Dehydrogenase Deficiency. infants are normal for the first few days of life, after which they become progressively lethargic, have alternating episodes of hypertonia and hypotonia, and the urine develops a characteristic odor of maple syrup; Ketosis, coma, and death ensue if not treated; Treatment requires restricting dietary valine, leucine, and isoleucine.

Front 195

Q195. Marfan syndrome

Back 195

A195. autosomal dominant disease, 15% sporadic, a mutation in the gene that encodes fibrillin; skeletal abnormiMies (thin, elongated limbs; pectus excavatum; pectus carinatum), scoliosis (60%) / kyphosis / pectus; hypermobile joints; ocular abnormalities (frequent myopia and detached lens); cardiovascular disease (mitral valve prolapse and aortic aneurysm). Dilatation of the ascending aorta is seen in 90% of patients and frequently leads to aortic rupture or congestive heart failure.

Front 196

Q196. Maternal PKU

Back 196

A196. Lack in proper dietary during pregnancy; Infant: Microcephaly, Mental Retardation, Growth Retardation, Congenital Heart Defects

Front 197

Q197. May-White syndrome

Back 197

A197. familial progressive myoclonus epilepsy; lipomas; deafness; ataxia

Front 198

Q198. McArdle Disease

Back 198

A198. Myophosphorylase Deficiency (Type V glycogen storage disease); muscle phosphorylase deficiency = increase Glycogen; Exercise intolerance during the initial phase of high- intensity exercise; Muscle cramping; Possible myoglobinuria; Recovery or "second wind" after 10-15 minutes of exercise.

Front 199

Q199. McCune-Albright syndrome

Back 199

A199. multiple lesions of bone, polyostotic fibrous dysplasia; precocious puberty (33% of females, rarely in males); cafe-au-lait spots (coast of Maine)

Front 200

Q200. Meckel’s Diverticulum

Back 200

A200. Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population; Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk; bleeding, intussusseption, volvulus, obstruction

Front 201

Q201. Meckel-Gruber syndrome

Back 201

A201. encephalocele; multiple renal cysts

Front 202

Q202. Medullary Cystic Disease of Kidneys

Back 202

A202. Medullary Cysts; Poor Prognosis; Ultrasound shows Small Kidney

Front 203

Q203. Medullary Sponge Disease of Kidneys

Back 203

A203. Cysts of COLLECTING DUCT; Good prognosis

Front 204

Q204. Meig’s Syndrome

Back 204

A204. ovarian fibroma; ascites; hydrothorax

Front 205

Q205. MEN 1 (Wermer’s Syndrome)

Back 205

A205. AD trait, MEN 1 MUTATION, 3P’s; Parathyroid tumor 88%; Pancreatic tumor (Z-E syndrome) 50%; Pituitary tumors 65%; Common Presentation: Kidney Stones (increase PTH) & Stomach Ulcers (increase Gastrin (ZE))

Front 206

Q206. MEN 2A (Sipple's syndrome)

Back 206

A206. AD trait, RET gene; Medullary carcinoma, usually multifocal, metastasize to local nodes, lung, liver; pheochromocytoma, almost always bilateral; parathyroid tumor, may be secondary to calcitonin secreted by medullary thyroid Ca

Front 207

Q207. MEN III (or 2B, Schimke, marfanoid syndrome)

Back 207

A207. AD trait, RET gene; Medullary thyroid carcinoma; pheocromocytoma; marfanoid habitus; Oral/intestinal ganglioneuromatosis, neuroma or neurofibroma

Front 208

Q208. Menetrier’s Disease

Back 208

A208. giant hypertrophic gastritis; parietal cell atrophy, mucous cell hypertrophy; thickened mucosa – rugae; plasma protein loss; Leads to gastric cancer.

Front 209

Q209. Menkes kinky-hair syndrome

Back 209

A209. X-linked recessive, males only; Deficient cross-linking secondary to functional copper deficiency, facial/ocular/vascular/cerebral; Depigmented (steely) hair; Arterial tortuosity, rupture; Cerebral degeneration; osteoporosis; anemia; Wormian bones

Front 210

Q210. Metachromatic Leukodystrophy

Back 210

A210. AR trait, Lysosomal Storage Disease; Arylsulfatase A Deficiency à Cerebroside Sulfate Accumulation; Central and Peripheral Demyelination; ataxia; dementia

Front 211

Q211. microcephaly

Back 211

A211. most frequent consequence of radiation

Front 212

Q212. Mikulicz syndrome

Back 212

A212. enlargement of the salivary and lacrimal glands; in Sjogren syndrome

Front 213

Q213. Milroy Disease

Back 213

A213. congenital lymphatic malformation / lymphedema

Front 214

Q214. Minimal Change Disease

Back 214

A214. Nephrotic Syndrome - Massive proteinuria (>3.5g) and edema; Most common in kids (postinfectious); RESPONDS TO CORTICOSTEROIDS; EM: podocyte foot process effacement. LM: Normal

Front 215

Q215. Mirizzi syndrome

Back 215

A215. incomplete obstruction of Common hepatic Duct; inflammation due to stone lodged in cystic duct or GALLBLADDER neck

Front 216

Q216. Mitochondrial Encephalomyopathies with Lactic Acidosis and Stroke-like symptoms (MELAS)

Back 216

A216. Mitochondrial encephalomyopathy; lactic acidosis; stroke-like episodes; mitochondrial DNA (mtDNA) diseases

Front 217

Q217. Mitochondrial Myopathies

Back 217

A217. Ragged Red Fiber Diseases; Mitochondrially-inherited; 1. Myoclonic Epilepsy with Ragged Red Fibers; 2. Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like episodes (MELAS)

Front 218

Q218. mitral valve prolapse (Barlow) syndrome

Back 218

A218. scoliosis; straight back; pectus excavatum; (any of above seen in 60-75%)

Front 219

Q219. Mixed Connective Tissue Disease (MCTD)

Back 219

A219. Disease with varying symptoms associated with autoantibodies to U1RNP; Raynaud's; Arthralgias; Myalgias; Fatigue; ESOPHAGEAL HYPOMOTILITY; no renal involvement; Anti-U1RNP antibodies; Treatment: Steroids

Front 220

Q220. MLF Syndrome

Back 220

A220. Normally due to MS since MLF is a white matter tract; MLF normally is a connection between CN VI and the contralateral CN III. This coordinates abduction of the eye with adduction of the contralateral eye. In MLF syndrome, the MLF is destroyed, so when the CN VI nucleus fires to abduct the eye, the signal is not transmitted to the contralateral CN III nucleus. The contralateral eye doesn't move, so the patient will have nystagmus beating back toward the midline.

Front 221

Q221. Monckeberg’s Arteriosclerosis

Back 221

A221. Calcification of the media; usually radial & ulnar artery

Front 222

Q222. Morquio syndrome

Back 222

A222. autosomal recessive, mucopolysaccharidosis - Keratan sulfate accumulates; instability of the cervical portion of the vertebral column due to hypoplasia of the dens; scoliosis and/or kyphosis; a keel-like sternum (pectus carinatum); laxity of the joints; knock-knees; dysplastic hips

Front 223

Q223. Mounier-Kuhn syndrome

Back 223

A223. inheritance: autosomal recessive; Airway: loud cough, hoarseness, recurrent pneumonia, dyspnea, copious purulent sputum production; tracheobronchomegaly (trachea equal to or greater than the width of the tracheal vertebral body. increase in lumen of the trachea with Valsalva and narrowing with Muller maneuver. saclike recesses; pulmonary fibrosis; bullae

Front 224

Q224. Muir-Torre syndrome

Back 224

A224. autosomal dominant inheritance; soft tissue tumors: keratoacanthoma, actinic keratosis, etc. internal malignancies (50% gastrointestinal, 25% genito- urinary); high incidence of colonic polyps

Front 225

Q225. Munchausen Syndrome

Back 225

A225. Factitious disorder; consciously creates symptoms, but doesn’t know why

Front 226

Q226. Myasthenia Gravis

Back 226

A226. Neuromuscular Junction Disorder characterized by autoantibodies against POSTsynaptic ACh receptors; **Symptoms WORSEN with use**; Ptosis, Diplopia; General Weakness; Treatment: AChE inhibitors

Front 227

Q227. myeloperoxidase deficiency

Back 227

A227. autosomal recessive; have oxidative burst and makes peroxide, but does not have MPO à can't make bleach to kill bacteria

Front 228

Q228. myeloschisis

Back 228

A228. failure of vertebral arch to enclose vertebral canal; neural tissue exposed

Front 229

Q229. nail-patella syndrome

Back 229

A229. Fong syndrome, onycho-osteodysostosis; autosomal dominant; abnormal fingernails; absent/hypoplastic patella; defects in radial head; iliac horns (bony processes along posterior surfaces of iliac bones); discoloration of iris

Front 230

Q230. Nelson’s Syndrome

Back 230

A230.  Adrenal Cushings →  surgical removal of adrenals →  loss of negative feedback to pituitary → Pituitary Adenoma; extreme hyperpigmentation after adrenalectomy

Front 231

Q231. Neurofibromatosis 1 (Von Reckilghausen's disease)

Back 231

A231. AD trait, on long-arm of 17q Two or more of the following:; 1. six or more cafe au lait macules measuring greater than 0.5 cm in diameter in prepubertal individuals and greater than 1.5 cm in those who are postpubertal. 2. More than 2 neurofibromas of any type or more than one plexiform neurofibroma; 3. Freckling in the axillary and or inguinal regions; 4. Optic Glioma; 5. More than 2 lisch nodules or iris hamartomas; 6. dysplasia of the sphenoid bone or dysplasia of thinning of long bone cortex. 7. a first degree relative who has NF-1

Front 232

Q232. Neurofibromatosis 2

Back 232

A232. AD trait, Genetics: Tumor suppressor gene NF-2 on Chromosome 22; Accounts for 10% of cases of neurofibromatosis, Frequency: 1 in 45,000. Bilateral acoustic neuromas; Neurofibromas; cafe-au-lait spots; juvenile cataracts; Increased risk of meningioma and ependymomas

Front 233

Q233. Niemann Pick Disease

Back 233

A233. AR trait, Lysosomal Storage Disease; Sphigomyelinase Deficiency à Sphingomyelin Accumulation; Progressive neurodegeneration; hepatospleenomegaly; cheery red spot on macula; Foam Cells; Zebra Bodies; Early death

Front 234

Q234. Nutmeg liver

Back 234

A234. Backup of blood into liver; Right-sided heart failure or Budd-Chiari syndrome; Mottled surface appearance; Centrilobular congestion and necrosis, leading to cardiac cirrhosis

Front 235

Q235. Ornithine Transcarbamoylase (OTC) deficiency

Back 235

A235. XLR; Defect: Can’t eliminate ammonia; Excess carbamoyl phyosphate à Increase Orotic Acid à Orotic Acid in Blood and Urine; low BUN; hyperammonemia

Front 236

Q236. Orotic Aciduria

Back 236

A236. an autosomal recessive disorder; a defect in either oratic acid phosphoribosyltransferase or orotidine 5'-phosphate (OMP) decarboxylase that convert ororic acid to uridine monophosphate (UMP); retarder growtha and development; megaloblastic anemia (not treatable with B12 or folate); ororic acid crystals in urine. Treat with oral uridine

Front 237

Q237. Osler-Weber-Rendu Syndrome (Hereditary hemorrhagic telangiectasia)

Back 237

A237. Autosomal dominant. Seen in the Mormon’s of Utah; Telangiectasias of skin and mucous membranes, Common on lips, tongue, and fingertips: Recurrent epistaxis, GI bleeding; Skin discolorations; Mucosal small vessel arteriovenous malformation; May develop iron deficiency anemia.

Front 238

Q238. Osteitis Fibrosa Cystica (Von Recklinghausen's disease)

Back 238

A238. Hyperparathyroidism à formation of cystic spaces in bone filled with fibrous stroma and blood. Cystic bone spaces filled with fibrous tissue leading to bone pain; Characteristic "Brown Tumors"; increase Ca, decrease PO3, increase ALP

Front 239

Q239. Osteogenesis Imperfecta

Back 239

A239. Type I: AD Trait; Type II: AR trait; Defect: in forming triple helix of procollagen (mostly Type I); Multiple Fractures; Blue Sclerae; Hearing loss; Dental imperfections; Type II is fatal in utero

Front 240

Q240. Pancoast Tumor

Back 240

A240. Bronchogenic tumor with superior sulcus involvement; Horner’s Syndrome

Front 241

Q241. Parinaud syndrome (supranuclear palsy)

Back 241

A241. Pineal tumors compresses the dorsal aspect of the midbrain including the cerebral aqueduct and tectal (quadrigeminal) plate; paralysis of upward gaze; Argyll Robertson pupils, accommodate but are unreactive to light; noncommunicating hydrocephalus.

Front 242

Q242. Parkinson's Disease

Back 242

A242. atrophy of caudate nucleus, loss of dopamine neurons. Resting tremor; akinesia; blank face

Front 243

Q243. Patau's syndrome

Back 243

A243. Trisomy 13; 1:15,000; Severe mental retardation; microphthalmia (small eyes), microcephaly; cleft-lip/palate; polydactyly and holoprosencephaly; death <1 year old

Front 244

Q244. pauci-immune crescentic glomerulonephritis, primary

Back 244

A244. - vasculitis limited to kidney

Front 245

Q245. PDH deficiency

Back 245

A245. Lactic acidosis; Neurologic deficits in alcoholic; PDH

Front 246

Q246. Pelizaeus-Merzbacher syndrome

Back 246

A246. slowly progressive dysmyelinating disease; diffuse, symmetrical demyelination of cerebrum, cerebellum, brainstem, spinal cord; "islands" of partially demyelinated fibers; CT may be normal; two types: X-linked recessive (presents in infancy); autosomal dominant (preadulthood)

Front 247

Q247. Pepper syndrome

Back 247

A247. primary adrenal neuroblastoma; massive hepatomegaly from metastases

Front 248

Q248. Peutz-Jegher’s Syndrome

Back 248

A248. AD disorder (50% sporadic); Hamartomas, not a TRUE neoplasm; melanin pigmentation of lips, mouth, hand, genitalia; hamartomatous polyps of small intestine and stomach, not in colon; increased risk for pancreas, breast, lung, ovary/uterus cancer

Front 249

Q249. Peyronie’s Disease

Back 249

A249. Subcutaneous fibrosis of dorsum of penis

Front 250

Q250. Phenylketonuria

Back 250

A250. AR trait; Phenylalanine Hydroxylase Deficiency or Decrease Tetrahydrobiopterin Cofactor à defect aromatic amino acid metabolism à Increase Phenylalanine à Phenyalanine in Urine; slow development; severe mental retardation; autistic symptoms; loss of motor control; Fair Skin and hair; Musty Body Odor; treatment: life-long semisynthetic diet restricted in phenylalanine, Decrease Phenylalanine and Increase Tyrosine; avoid aspartame; Women with PKU who become pregnant must be especially careful about the phenylalanine level in their blood so as not to adversely affect neurologic development in the fetus.

Front 251

Q251. Pick’s Disease

Back 251

A251. Two Different Diseases; 1. Progressive dementia similar to Alzheimer’s, intracellular tau protein in neurons, aphasia, parkinsonian symptoms; 2. Constrictive pericarditis sequel to mediastinal tuberculosis, Calcium-frosting, unyielding layer. heart chambers may be unable to dilate to receive blood during diastole

Front 252

Q252. Pickwickian syndrome

Back 252

A252. obesity hypoventilation syndrome; obesity; sleep apnea

Front 253

Q253. Plummer’s Syndrome

Back 253

A253. hyperthyroidism; Toxic multinodular goiter, TSH independent nodules; absence of eye signs and pretibial myxedema

Front 254

Q254. Plummer-Vinson syndrome

Back 254

A254. Middle-aged women; Esophageal webs, dysphagia for solids; Iron deficiency anemia,; koilonychia (spoon nails); achloryhydria, glossitis; Increased risk of esophageal carcinoma.

Front 255

Q255. Poland anomaly/syndrome

Back 255

A255. an underdevelopment or absence of the chest muscle (pectoralis) on one side of the body; webbing of the fingers (cutaneous syndactyly) of the hand on the same side (ipsilateral hand). For people born with PA, the breastbone portion (sternal) of the pectoralis is also missing.

Front 256

Q256. Polycystic kidney disease, Adult (ADPKD)

Back 256

A256. AD Inheritance, 90% are due to a mutation in APKD1 (chromosome 16); always bilateral, massive enlargement of the kidneys; patients present with pain, hematuria, hypertension, progressive renal failure Associated with; 1) polycystic liver disease; 2) BERRY ANEURYSMS; 3) mitral valve prolapse Juvenile could be AR trait

Front 257

Q257. Polycystic Kidney Disease, Infantile (ARPKD)

Back 257

A257. Infantile Presentation of MULTIPLE, LARGE, BILATERAL RENAL CYSTS causing DESTRUCTION of PARENCHYMA; Autosomal Recessive; Associated with Hepatic Cysts, Fibrosis

Front 258

Q258. polycystic ovarian syndrome

Back 258

A258. irregular menstrual bleeding (from anovulation/unopposed estrogen; gonadotropins arent pulsatile); hirsutism (increased LH stimulates androgens which also decrease SHBG); obesity; infertility; ovarian enlargement with multiple cysts; confirmed with --> LH/FSH ratio 3:1 (normal is 1.5:1); Tx: OCPs (normalize bleeding and suppress LH); spironolactone (suppresses 5-alpha reductase); if pregnancy is desired --> clomiphene

Front 259

Q259. Polyostotic Fibrous Dysplasia

Back 259

A259. Bone replaced by fibroblasts & collagen. McCune Albright is a good example

Front 260

Q260. Pompe’s Disease (Type II glycogen storage disease)

Back 260

A260. Lysosomal a1,4-Glucosidase Deficiency; tissues that contain most of the body glycogen (liver and muscle) are severely affected in Pompe disease; hepatomegaly; skeletal muscle hypotonia; cardiomegaly; death from cardiac failure by age 2.

Front 261

Q261. Porphyria Cutanea Tarda

Back 261

A261. adult-onset hepatic porphyria,; hepatocytes are unable to decarboxylate uroporphyrinogen in heme synthesis; characteristic red-wine urine; Hepatotoxic substances, such as excessive alcohol or iron deposits, can exacerbate the disease; Skin lesions are related to high circulating levels of porphyrins.

Front 262

Q262. Porphyria, Acute Intermittent (AIP)

Back 262

A262. Enzyme deficiencies in early steps of porphyrin synthesis will have photosensitivity. Enzyme deficiencies later like AIP will not. 1. Abdominal Pain; 2. Neuropsychiatric Manifestations; 3. Darkened Urine upon Standing; 5Ps of Porphyria; Precipitated by Drugs (EtOH and Barbiturates); Painful Abdomen; Pink Urine; Psychological Distubances; Polyneuropathy; Glucose will improve symptoms because it blocks ALA Synthase

Front 263

Q263. Pott’s Disease

Back 263

A263. Tuberculous osteomyelitis of the vertebrae

Front 264

Q264. Potter syndrome

Back 264

A264. Type I: autosomal recessive ("infantile") polycystic disease, "microscopic" (1-mm) cysts, US: +/- increased echo, no gross cysts; Type II: multicystic dysplastic kidney ("renal dysplasia"), US: multiple cysts, usually unilateral; Type III: autosomal dominant ("adult") polycystic disease, usually not present until adult life, US: multiple cysts; renal agenesis; associated with oligohydramnios, abnormal facies, hypoplastic lungs

Front 265

Q265. Prader Willi Syndrome

Back 265

A265. Deletion of normal active Paternal allele on Chromosome 15; is imprinted so that it is normally expressed only from the paternal; Mental retardation; hyperphagia, Childhood obesity; Hypogonadotrophic hypogonadism; hypotonia; Small hands and feet

Front 266

Q266. progeria (Hutchinson-Gilford) syndrome

Back 266

A266. premature aging in children; normal at birth; "wizened old man": alopecia, atrophy of muscles and skin; atherosclerosis à coronary artery disease; dwarfism; hypoplastic facial bones + sinuses: receding chin, beaked nose, exophthalmos; open cranial sutures + fontanelles; acro-osteolysis; Wormian bones; coxa valga

Front 267

Q267. prune belly (Eagle-Barrett) syndrome

Back 267

A267. absent abdominal musculature; undescended testes; dilated ureters & calyces; clubbed feet; heart & lung abnormalities; ** predominantly in males

Front 268

Q268. Pulmonary Fibrosis, Idiopathic

Back 268

A268. *Chronic Inflammation of the alveolar wall; Fibrosis; csytic spaces; usually occurs in the sixth genration of life; *Honeycomb lung; fatal within years

Front 269

Q269. pulmonary venolobar (scimitar) syndrome

Back 269

A269. always involves aplasia of one or more lobes of right lung variably involves:; partial anomalous pulmonary venous return (scimitar- shaped vein); usually drains to IVC; but portal vein, hepatic vein, RA possible; absent or small pulmonary artery perfusing abnormal lung segment; arterial supply from thoracic/abdominal aorta or celiac axis; anomalies of hemidiaphragm on affected side; anomalies of bony thorax or thoracic soft tissues

Front 270

Q270. Pyruvate Dehydrogenase Deficiency

Back 270

A270. Congenital or from B1 Deficiency; Backup of substrate à lactic acidosis; neuro defects; Treatment: increase intake of ketogenic nutrients (Lys and Leu) à ketogenesis

Front 271

Q271. Rathke's pouch

Back 271

A271. Ectodermal remnants above the sella turcica; Develops a craniopharyngioma, destroys pituitary gland; Cystic tumor with hemorrhage and calcification; Bitemporal hemianopsia

Front 272

Q272. Raynaud's Disease

Back 272

A272. - seen in young, healthy women; Recurrent arteriolar spasm causes decreased blood flow to the skin due to cold or stress; Phenomenon: secondary  to underlying disease (SLE or scleroderma)

Front 273

Q273. Reiter syndrome

Back 273

A273. Males> females; onset usually in the 20s or 30s; Classic triad: conjunctivitis, urethritis, arthritis; polyarthritis affects the ankles and knees; Onset often follows a venereal disease (gonorrhea) or bacillary dysentery; Associated with HLA-B27 (90%).

Front 274

Q274. Reye syndrome

Back 274

A274. following viral upper respiratory tract infection (especially VZV) with history of large dose of aspirin postviral/aspirin à enlarged distorted mitochrondria à esp. liver (disruption biochemical pathways à microvesicular steatosis); age: children and young adults; cns disorder and brain problem (edema). 75% mild, 25% coma; liver failure; increased ammonia; CT findings: initially (within 2-3 days) small ventricles, later progressive enlargement of lateral ventricles and sulci, markedly diminished attenuation of white matter; diagnosis by liver biopsy: fatty infiltration; 15 - 85% mortality (from white matter edema and demyelination)

Front 275

Q275. Riedel's thyroiditis

Back 275

A275. idiopathic Fibrous replacement of thyroid tissue. Painless, fixed, hard goiter. Most patients are EUTHYROID.

Front 276

Q276. right middle lobe syndrome

Back 276

A276. controversial; associated with asthma; cough, wheezing, recurrent pneumonia; XR findings: total or partial RML atelectasis; +/- bronchial narrowing

Front 277

Q277. Riley-Day syndrome

Back 277

A277. familial dysautonomia; autosomal recessive; seen in Jewish infants; malfunction of autonomic nervous system; possibly associated with catecholamine release + beta-NGF; hypersecretion of mucous glands; XR resembles cystic fibrosis

Front 278

Q278. Roger’s Disease

Back 278

A278. Interventricular septal defect

Front 279

Q279. Rotor syndrome

Back 279

A279. Autosomal recessive, Mild defect Bilirubin Diglucuronide Transport to intestine; Conjugated hyperbilirubinemia; Similar to Dubin-Johnson but without liver pigmentation; No clinical consequences

Front 280

Q280. Sandifer syndrome

Back 280

A280. seen in infants; torsion spasms of head + neck, occasionally of upper torso; associated with "rumination syndrome"; regurgitation + re-chewing; secondary to hiatus hernia

Front 281

Q281. Schilder syndrome

Back 281

A281. sudanophilic leukodystrophy; males (2:1), onset prepuberty; rapidly progressive demyelinating disease; weakness --> paralysis; apathy --> stupor; death usually in months; occipital + temporal most severely affected

Front 282

Q282. Schmidt’s Syndrome

Back 282

A282. Autoimmnue thyroid Disease (Hashimoto’s ) plus; insulin-dependent diabetes

Front 283

Q283. scimitar syndrome

Back 283

A283. hypoplasia / aplasia of one or more lobes of lung; always on RIGHT; +/- partial APVR (to IVC, portal vein, etc.); scimitar-shaped density is draining vein

Front 284

Q284. sclerosing cholangitis, primary

Back 284

A284. thickening of bile duct walls and narrowing of their lumens; patient with uc, pruritis, and jaundice; Diagnosis: ercp shows bead like strictures and dilations of intra and extra hepatic ducts; Treatment: ercp + stent placement to relieve symptoms, liver transplant is curative; Complication: cholangiocarcinoma, recurrent cholangitis, portal htn, liver failure

Front 285

Q285. Severe combined immunodeficiency (SCID)

Back 285

A285. immune defects in which there are problems with both B cells and T cells; 3 types: X-linked (mutation in gamma chain of the lymphocyte cytokine receptors), Autosomal (mutations in adenosine deaminase), and Rare autosomal (mutations in RAG1 or RAG2); die before 2; Treatment: bone marrow transplantation; no rejection of the allograft!!

Front 286

Q286. Sezary Syndrome

Back 286

A286. Leukemic form of cutaneous T-cell lymphoma; mycosis fungoides

Front 287

Q287. Shaver’s Disease

Back 287

A287. Aluminum inhalation;  lung fibrosis

Front 288

Q288. Sheehan's syndrome

Back 288

A288. Post-partum hypopituitarism; Hypovolemic shock causes infarction; Manifests as a sudden cessation of lactation, Fatigue (Cortisol decrease), Loss of Pubic/Axillary Hair (decrease Sex Hormones); Eventually develops hypopituitarism

Front 289

Q289. Shy-Drager disease

Back 289

A289. ANS failure; Parkinsonism; autonomic dysfunction; orthostatic hypotension

Front 290

Q290. SIADH

Back 290

A290. increase ADH due to:; 1. Ectopic ADH (Small cell lung cancer); 2. CNS disorder/trauma; 3. Pulmonary Disease; 4. Drugs (Cyclophosphamide); Excessive H2O Reabsorption; Hyponatremia (Dilution effect from H2O); Urine Osmolality>Serum Osmolality; Treatment: Demeclocycline or decrease H20 Intake; **Correct sodium slowly. low sodium causes brain cells to swell, if you correct too quickly, they shrink and can cause seizures

Front 291

Q291. Sicca syndrome

Back 291

A291. Dry eyes; dry mouth; dry nose; dry vagina; chronic bronchitis. Like Sjogren's, but no ARTHRITIS

Front 292

Q292. sickle cell anemia

Back 292

A292. autosomal recessive; bone infarcts; arthritic change; Sickle cells

Front 293

Q293. Simmond’s Disease

Back 293

A293. Pituitary cachexia; can occur from either pituitary tumors or Sheehan’s

Front 294

Q294. Simple Cysts of Kidneys

Back 294

A294. Benign finding; CORTEX only

Front 295

Q295. Sjogren syndrome

Back 295

A295. chronic systematic inflammatory disorder of unknown etiology characterized by dryness of mucous membranes; Arthritis; xerostomia (dry mouth); keratoconjunctivitis (dry eyes); CXR: reticulododular pattern, patchy consolidation/atelactisis, pneumonitis, +/- pleural effusion; ULTRASOUND: enlarged lacrimal glands, multiple scattered parotid cysts bilaterally; Can be associated with SICCA syndrome (no arthritis) + vaginal and nasal dryness and chronic infections; more prevalent in woman; antibodies to ribonucleotide proteins (RNPs) SS-A (Ro) & SS-B (La); increase risk of B-CELL LYMPHOMAS

Front 296

Q296. spina bifida

Back 296

A296. local failure of the vertebral arch to enclose the vertebral canal

Front 297

Q297. spina bifida occulta

Back 297

A297. failure of vertebral arch to enclose vertebral canal - bony defect only; skin attached at various points

Front 298

Q298. Spitz Nevus

Back 298

A298. Juvenile melanoma; always benign

Front 299

Q299. Stein-Leventhal syndrome

Back 299

A299. Polycystic ovary; see amenorrhea; infertility; obesity; hirsutism = increase LH secretion

Front 300

Q300. Stevens-Johnson Syndrome

Back 300

A300. Erythema multiforme; fever, malaise; mucosal ulceration; often secondary  to infection = mycoplasma or sulfa drugs

Front 301

Q301. Still’s Disease

Back 301

A301. Juvenile rheumatoid arthritis; absence of rheumatoid factor

Front 302

Q302. Sturge Weber Syndrome

Back 302

A302. AD trait; Facial port-wine stain; Ipsilateral intracerebral Arteriovenous malformations with subjacent cortical calcification, leptomeningeal angiomatosis; ipsilateral early-onset congenital glaucoma; seizures; contralateral focal signs (90%) + hemiparesis (33-66%); subnormal mentation (50%)

Front 303

Q303. Subacute Combined Degeneration

Back 303

A303. Loss of Dorsal Columns and Lateral Corticospinal Tract; Due to B12 deficiency; ataxic gait; + Romberg; impaired position and vibration sense.

Front 304

Q304. subclavian steal syndrome

Back 304

A304. stenosis or obstruction of subclavian artery near its origin, flow reversal in ipsilateral vertebral artery à decreased cerebral circulation; 2.5% of extracranial arterial occlusions; 40-60y, M:F 3:1; Etiology: ASD (#1), congenital, interruption of arch, hypoplasia of right aortic arch with hypoplasia of anomalous lt SA, dissection; vertebrobasilar (HA/N/V/vertigo); brachial (arm pain, paresthesias); Diagnosis: angio, doppler (flow reversal in vertebral artery); Rx: surgery, PTA

Front 305

Q305. superior mesenteric artery (SMA) syndrome

Back 305

A305. partial obstruction of third part of duodenum by superior mesenteric artery (SMA); marked weight loss; anorexia nervosa; total body casting; x-ray: distension of proximal duodenum; classically disappears when prone

Front 306

Q306. superior vena cava syndrome

Back 306

A306. obstruction of SVC with development of collateral pathways; etiology: bronchogenic carcinoma (> 50%), lymphoma, granulomatous mediastinitis, histoplasmosis, sarcoidosis, TB, substernal goiter, ascending aortic aneurysm, pacer wires; central venous catheters (25%), constrictive pericarditis; collaterals venous stasis: esophageal varices ("downhill varices"), azygos/hemiazygos veins, accesory hemiazygos and superior intercostal veins ("aortic nipple"), lateral thoracic veins and umbilical vein, vertebral veins

Front 307

Q307. Swyer-James syndrome

Back 307

A307. unilateral hyperlucent lung or Macleod syndrome; hyperlucency + air-trapping; decreased pulmonary arteries; paucity of bronchial subdivisions +/- proximal bronchiectasis; history of early + recurrent lower respiratory tract infections; possibly secondary to obliterative bronchitis/bronchiolitis (adenovirus)

Front 308

Q308. Syringomyelia

Back 308

A308. Central cord syndrome; Formation of cystic cavity in center of spinal cord; Bilateral loss of pain and temperature at or 1-2 levels below the level of the lesion.

Front 309

Q309. Takayasu’s arteritis

Back 309

A309. Aortic arch syndrome; medium and large arteries, granulomatous thickening of aortic arch and/or proximal great vessels and/or mesenteric arteries; Loss of carotid, radial or ulnar pulses = pulseless disease; myalgias, skin lesions, ocular disturbances; Night sweats. Common in young Asian females

Front 310

Q310. Tay-Sachs Disease

Back 310

A310. AR trait, Lysosomal enzyme Hexosaminidase A missing on chromosome 15 à Ganglioside GM2 accumulation. lysosomes with onion skin; Cherry red spots in macula; Blindness; Psychomotor retardation; no hepatosplenomegaly (vs Niemann-Pick); Death usually <2 years

Front 311

Q311. Tetralogy of Fallot

Back 311

A311. VSD; overriding aorta; pulmonary artery stenosis; right ventricular hypertrophy

Front 312

Q312. Tourette syndrome

Back 312

A312. Basal ganglia disorder; involves facial and vocal tics that progress to jerking movements of the limbs; It is frequently associated with explosive, vulgar speech. Treated with Pimozide

Front 313

Q313. tricho-rhino-phalangeal syndrome

Back 313

A313. a heritable syndrome; brachydactyly; sparce scalp hair; broad, pear shaped nose.

Front 314

Q314. Trinucleotide repeat expansion diseases

Back 314

A314. huntingtons; myotonic dystrophy; Friedreich's ataxia; fragile X syndrome; May show anticipation (disease severity increases and age of onset decreases in successive generations)

Front 315

Q315. Tuberous sclerosis

Back 315

A315. AD - incomplete penetrance; mental retardation and seizures beginning with infancy; increase incidence of astrocytomas, Astrocyte "drippings" in subependyma; facial lesions; hypopigmented "ash leaf spots" on skin; Connective tissue tumors: angiofibromata (adenoma sebaceum), angiomyolipomas in kidney, cardiac rhabdomyomas

Front 316

Q316. Turcot syndrome

Back 316

A316. AR trait, Rare variant of FAP (Familial adenomatous polyposis); onset in teens; Numerous colonic adenoma to us polyps; CNS tumors (gliomas, astrocytomas, medulloblastomas).

Front 317

Q317. Turner syndrome

Back 317

A317. 45 XO female (or mosaic XO/XX) incidence 1:2500 liveborn females; Skeleton: short stature, delayed skeletal maturation, osteoporosis, short 4th + 5th metacarpals; broad, "shield" chest; Webbing of neck and cubitus valgus; cardiovascular anomalies: present in 20%, 70% are coarctation; ovarian dysgenesis; kidneys: horseshoe kidney, bifid renal pelvis; cystic hygroma (40-80%)

Front 318

Q318. Uncal Herniation Syndrome

Back 318

A318. 1. Ipsilateral dilated pupil/ptosis --> stretching of CN III; 2. Contralateral homonymous hemianopsia --> Compression of ipsilateral PCA (no blood to visual cortex); 3. Ipsilateral Paresis --> compression of contralateral cerebral peduncle against falx tentorium; 4. Duret Hemorrhages/Paramedian artery rupture --> Caudal displacement of brainstem.

Front 319

Q319. Uncoupling Agents

Back 319

A319. 2,4 DNP, Aspirin, Thermogeninin; Increase Permeability of Membrane à Decrease Proton Gradient à Increase O2 Consumption à ATP Synthesis stops but electron transport continues à Heat Production

Front 320

Q320. Unhappy Triad

Back 320

A320. 1. Medial Meniscus Damage; 2. MCL Damage; 3. ACL Damage; MCL tear: Abnormal Passive Abduction; ACL tear: Positive Anterior Drawer Sign; Usually caused by lateral hit with knee extended (football)

Front 321

Q321. VATER syndrome

Back 321

A321. V: vertebral anomalies, vascular anomalies; A: anal atresia; T: tracheo-esophageal fistula; E: esophageal atresia; R: renal anomalies, radial dysplasia

Front 322

Q322. Velocardiofacial syndrome

Back 322

A322. another 22q11 deletion syndrome; only palate, heart, and face defects

Front 323

Q323. Verner-Morrison (WDHA) syndrome

Back 323

A323. WDHA syndrome, vasoactive intestinal peptide (VIP) secreted by pancreatic islet-cell tumor (VIPoma); watery diarrhea; hypokalemia; achlorhydria

Front 324

Q324. Virchow's Triad

Back 324

A324. blood stasis; hypercoagulability; endothelial damage; Predisposes to clot formation and pulmonary embolism

Front 325

Q325. von Gierke’s Disease

Back 325

A325. Type I Glycogen storage disease; Deficiency of hepatic glucose-6-phosphatase, Impaired fructose metabolism; produces a profound fasting hypoglycemia; increased blood lactate, lactic acidosis; increased glycogen in live à hepatomegaly; Hyperlipidemia

Front 326

Q326. Von hippel landau Disease

Back 326

A326. AD trait, gene mutation in Chromosome 3p; Cavernous hemangiomas (capillary hemangioblastoma) in cerebellum+brain stem+spinal cord (Lindau tumor) and retina (von Hippel tumor); Adenomas of the viscera, especially increased risk for Renal Cell Carcinoma renal cell carcinoma; cysts or angioma any organ: cortical renal cysts (75%), pheochromocytoma (17%)

Front 327

Q327. von Recklinghausen’s Disease of Bone

Back 327

A327. osteitis fibrosa cystica (“brown tumor”); secondary to hyperparathyroidism; fibrous replacement

Front 328

Q328. von Willebrand’s Disease

Back 328

A328. AD Trait, defect in platelet adhesion secondary to deficiency in vWF; Easy brusing, bleeding into joints; increase PT/aPPT, increase Bleed time

Front 329

Q329. Waldenstrom macroglobulinemia

Back 329

A329. Type 1 cryoglobulinemia, cancer of the IgM-producing plasma cells; in men 50-70 years old; increased IgM and decreased of other Ig's; Bence Jones proteins in urine; generalized lymphadenopathy (not present in multiple myeloma); anemia; hyperviscosity; no lytic bone lesions; "flame cells" (eosinophilic plasma cells), PAS(+) Dutcher bodies

Front 330

Q330. Wallenberg’s Syndrome (PICA syndrome)

Back 330

A330. Posterior Inferior Cerebellar Artery (PICA) thrombosis; Lateral medulla involvement; Ipsilateral: ataxia, facial pain & temp loss; Contralateral: body pain & temp loss

Front 331

Q331. Waterhouse-Friderichsen syndrome

Back 331

A331. Acute Adrenal insufficiency with hemorrhagic necrosis; Secondary to DIC of meningiococcemia; Endotoxic shock and DIC; Treatment: antibiotics and steroid replacement.

Front 332

Q332. Weber’s Syndrome

Back 332

A332. Paramedian Infarct of Midbrain; Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

Front 333

Q333. Wegener's granulomatosis

Back 333

A333. - affects small vessels; necrotizing granulomas in lung/ upper airway and kidney; hemoptysis, cough, dyspnea; necrotizing glomerulonephritis, hematuria; perforation of nasal septum, chronic sinusitis; otitis media, mastoiditis; pyoderma gangrenosum; c-ANCA positive; nodular densities on X-ray; Treatment: cyclophosphamide, steroids

Front 334

Q334. Werdnig-Hoffman disease

Back 334

A334. Infantile spinal muscular atrophy; Autosomal Recessive; Degeneration of anterior horns; All LMN findings. Tongue fasciculations; Avg age of death <7mo.

Front 335

Q335. Wernicke’s Aphasia

Back 335

A335. - injury to Wernicke's area; Sensory Aphasia; Speech is fast and makes no sense; impaired comprehension

Front 336

Q336. Wernicke-Korsakoff Syndrome

Back 336

A336. Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua); Wernicke peripheral neuropathy: atxia, Ophthalmoplegia, nystagmus; Korsakoff psychosis: Memory loss and confabulation; Cerebral hemorrhage

Front 337

Q337. Whipple’s Disease

Back 337

A337. Malabsorption syndrome; Seen in old men; Infection with Tropheryma whippeli (with bacteria-laden macrophages); skin darkening; polyarthritis: inflamed painful joints; diarrhea; Other Rheumatologic, CNS, ocular, and constitutional symptoms

Front 338

Q338. Williams elfin-facies syndrome

Back 338

A338. sporadic, congenital disorder, Ch 7 microdeletion (elastin gene); idiopathic hypercalcemia; Cardiovascular problems: supravalvular aortic stenosis; facial dysmorphism: elfin facies; retardation; extremely cheerful, extreme friendliness with strangers; associated with medullary nephrocalcinosis, pancreatitis

Front 339

Q339. Wilms' Tumor

Back 339

A339. Most common renal malignancy in YOUNG CHILDREN (2-4 yrs); Associated with deletion of WT1 gene on Chromosome 11; Large Abdominal Mass; Can be part of WAGR syndrome:; W = Wilms Tumor; A = Aniridia - ALWAYS PRESENT (malformation of iris); G = Genitourinary malformation; R = Retardation

Front 340

Q340. Wilson's Disease

Back 340

A340. AR disorder-defective copper transport system; Decreased ceruloplasmin (binding protein); Decreased copper excretion into bile; Liver hepatitis and cirrhosis; Kayser-Fleischer rings in Descemet's membrane of cornea; CNS disease with chorea (putamen), hemiballismus (STN), dementia (cortex); Treatment: chelating agents (penacillamidene - removes and detoxifies cu deposits), zn (prevents dietary uptake of cu), liver transplant

Front 341

Q341. Wiscott-Aldrich syndrome

Back 341

A341. X-linked disorder, Mutation in the gene for Wiskott-Aldrich syndrome protein (WASP); defective B cell/ T cell, defective response to polysaccharide antigens (defect T cells prevents binding to B cells); recurrent Infections; elevated IgA, low IgM; Eczema; thrombocytopenic Purpura; Treatment: bone marrow transplant; Complications: Increased risk (12%) of non-hodgkin lymphoid cancers, Death due to infection or hemorrhage.

Front 342

Q342. Wolff-Chaikoff Effect

Back 342

A342. High iodine level; Decreases thyroid hormone synthesis

Front 343

Q343. Wolf-Parkinson-White Syndrome

Back 343

A343. alternate conduction pathway in the heart bypasses the AV node; leads to delta wave before the QRS complex on EKG and possible ventricular tachycardia

Front 344

Q344. Xeroderma Pigmentosum

Back 344

A344. Defect in Endonuclease = defect in Nucleotide Excision repair or Base Excision repair; Dry skin; melanoma and other cancers

Front 345

Q345. X-linked recessive disorders

Back 345

A345. Brutons agammaglobulinemia; Wiskott-Aldrich; Fragile X; G6PD deficiency; ocular albinism; Lesch-Nyhan syndrome; Duchenee's muscular dystrophy; Hemophilia A and B; Fabry's disease; Hunter's syndrome

Front 346

Q346. Zellweger syndrome

Back 346

A346. deficiency of peroxisomes causes an accumulation of very long chain fatty acids and several unusual fatty acids, such as hydroxylated and branched fatty acids.

Front 347

Q347. Zenker's diverticulum

Back 347

A347. Most common esophageal diverticulum; Cricopharyngeal muscle dysfunction; Increased oropharyngeal pressure causes mucosal herniation; Dysphagia, halitosis, obstruction

Front 348

Q348. Zollinger-Ellison syndrome

Back 348

A348. Gastrinoma in pancreatic islet; 50% malignant; 10% ectopic (stomach, duodenum, splenic hilum); multiple ulcers of stomach + duodenum; Treatment: gastrectomy; May related to MEN-1