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348 Cards in this Set

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Q001. 11β-hydroxylase deficiency
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.
Q002. 17α-hydroxylase deficiency
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
Q003. 21α-hydroxylase deficiency
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
Q004. 22q11 syndromes
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)
Q005. Abetalipoproteinemia
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"
Q006. Achondroplasia
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
Q007. Addisonian Anemia
A007. Pernicious anemia; antibodies to intrinsic factor or parietal cells; Vit B12 deficiency; megaloblastic anemia
Q008. Addison's disease
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
Q009. Adenine Deaminase deficiency
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
Q010. Albinism
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"
Q011. Albright’s Syndrome
A011. Polyostotic fibrous dysplasia; precocious puberty; café au lait spots; short stature; young girls
Q012. Alcaptonuria (Ochronosis)
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
Q013. alpha1-Antitrypsin Deficiency
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
Q014. Alport syndrome
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.
Q015. Alzheimer's Disease
A015. extracellular b-amyloid plaques,; intracellular tau tangles in brain neurons. Progressive dementia
Q016. Amyloid / Amyloidosis
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
Q017. Amyotrophic lateral sclerosis (Lou Gehrig disease)
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
Q018. Angelman's Syndrome
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,
Q019. Anterior Spinal Artery Syndrome (Occlusion)
A019. Spares only Dorsal Columns; All others lost.
Q020. Apert syndrome
A020. acrocephalosyndactyly; acrocephaly (coronal craniosynostosis); syndactyly
Q021. Argyll-Robertson Pupil
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
Q022. Arnold-Chiari Malformation
A022. Cerebellar tonsil herniation through foramen magnum
Q023. asplenia / polysplenia syndromes
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
Q024. Ataxia-Telangectasia
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
Q025. Bare lymphocyte syndrome
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)
Q026. Barlow’s Syndrome
A026. Floppy vale syndrome; women between 20-40 years old
Q027. Barrett esophagus
A027. Columnar metaplasia of lower esophagus; constant gastroesophageal reflux; increased risk of adenocarcinoma
Q028. Bartter’s Syndrome
A028. Hyperreninemia
Q029. Basal cell nevus syndrome (Gorlin syndrome)
A029. autosomal dominant; multiple nevoid basal-cell carcinomas; odontogenic keratocysts (OKCs); rib + vertebral anomalies; short metacarpal(s)
Q030. Battered child syndrome
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
Q031. Becker’s Muscular Dystrophy
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
Q032. Bell’s Palsy
A032. CNVII palsy; Affect entire face (recall that UMN lesion only affects lower face); Associated with AIDS, lyme disease, sarcoid, diabetes
Q033. Berger's Disease
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
Q034. Bernard-Soulier Syndrome
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
Q035. biliary cirrhosis, primary
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
Q036. Binswanger
A036. subcortical leukencephalopathy; Diffuse loss of deep white matter - as hypertension
Q037. Bland-White-Garland syndrome
A037. anomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA)
Q038. Bloom's syndrome
A038. autosomal recessive; small body size; immunodeficiency; light-sensitive facial erythema; predisposed to cancer
Q039. Boerhaave syndrome
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
Q040. Bowen’s Disease
A040. Carcinoma in situ on shaft of penis; gray-white; increase risk of visceral ca
Q041. Bracht-Wachter Lesions
A041. Minute abscesses found in subacute bacterial endocarditis
Q042. Brill-Zinsser Disease
A042. Recurrences of rickettsia prowazaki up to 50 yrs later
Q043. Briquet’s Syndrome
A043. Somatization disorder; Psychological: multiple physical complaints without physical pathology
Q044. Broca’s Aphasia
A044. Motor Aphasia (area 44 & 45); Speech is slow and halting; intact comprehension
Q045. Bronze diabetes
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
Q046. Brown-Sequard syndrome
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
Q047. Bruton's agammaglobulinemia
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
Q048. Budd-Chiari Syndrome
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
Q049. Buerger’s Disease
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
Q050. Caisson Disease
A050. Nitric gas emboli
Q051. Camptodactyly
A051. congenital flexion contracture of the PIP join
Q052. Cantrell syndrome
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
Q053. Caplan syndrome
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
Q054. Carcinoid syndrome
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)
Q055. Carney syndrome
A055. association of:; pheochromocytoma; paraganglioma (functioning); chondroma (multiple chondromatous hamartomas)
Q056. Caroli disease
A056. Congenital malformation bile ducts
Q057. Carpal tunnel syndrome
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
Q058. CHARGE
A058. Coloboma,; Heart defects,; choanal Atresia,; Retarded growth,; Genitourinary abnormalities,; Ear anomalies
Q059. Chediak-Higashi Disease
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
Q060. Chilaiditi syndrome
A060. interposition of colon between liver and right hemidiaphragm; causes elevation of right hemidiaphragm
Q061. Chronic Bronchitis
A061. increased Reid Index; excess mucus; productive cough for three consecutive months to 2 years; seen in smokers; possible cor pumonale
Q062. Chronic granulomatous disease (CGD)
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
Q063. Churg-Strauss syndrome (allergic granulomatosis and angiitis)
A063. granulomatous vasculitis with eosinophilia, Involves the lung, spleen, kidney; Asthma; sinusitis; skin lesions; wrist/foot drop; p-ANCA positive
Q064. Coal Workers Pneumoconiosis
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
Q065. Cockayne syndrome
A065. type of dysmyelinating disease; autosomal recessive; onset usually within 2nd year CT findings:; microcephaly; basal ganglion calcification; cerebral atrophy
Q066. Colles fracture
A066. Fracture of the lower inch of the radius
Q067. Common variable immunodeficiency
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
Q068. Complement C2/C4 deficiency
A068. components of the classical pathway (humoral); immune complex-mediated diseases
Q069. Complement C3 deficiency
A069. severe infections --> usually fatal
Q070. Congenital Adrenal Hyperplasia
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
Q071. congenital talipes equinovarus
A071. foot is plantar-flexed and inverted
Q072. Conn’s Syndrome
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
Q073. Cori’s Disease [Glycogen Storage Dx (Type III)]
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
Q074. Cortical Necrosis, Diffuse
A074. Bilateral Cortical Necrosis due to Infarction of both kidneys. Most likely due to simultaneous Vasospasm & DIC; Causes: Obestetric complications (abruptio placentae), SEPSIS
Q075. Cowden syndrome
A075. multiple hamartoma syndrome; GI-tract hamartomas (including stomach and colon); circumoral papillomatosis; nodular gingival hyperplasia; breast Ca; thyroid Ca
Q076. CREST syndrome
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)
Q077. Creutzfeld-Jakob disease
A077. prion disease causing spongiform encephalopathy, cerebellar & cerebral degeneration; dementia, Very fast acting
Q078. Cri-du-chat Syndrome
A078. congenital deletion of short arm of chromosome 5; microcephaly; severe mental retardation; high-pitched crying/mewing; epicanthal folds; cardiac abnormalities
Q079. Crigler-Najjar syndrome
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
Q080. Crohn’s Disease
A080. - ileocecum is common, rectal sparing; transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas; abdominal pain & diarrhea; fever; malabsorption; fistulae between intestinal loops & abd structures
Q081. Cronkhite-Canada syndrome
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
Q082. Crouzon syndrome (craniofacial dysostosis)
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.
Q083. Curling’s Ulcer
A083. acute gastric ulcer associated with severe burns
Q084. Cushing syndrome
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
Q085. Cushing’s Ulcer
A085. Acute gastric ulcer associated with CNS trauma
Q086. Cystic Fibrosis
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
Q087. Dandy-Walker malformation
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
Q088. de Quervain’s Thyroiditis (subacute thyroiditis)
A088. Postviral destruction thyroid; Causing hyperthyroidism than hypothyroidism; Self-limiting
Q089. Developmental displacement of the hip
A089. laxity of the ligaments resulting in subluxation of head of the femur
Q090. Diabetes Insipidus, Central
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
Q091. Diabetes Insipidus, Nephrogenic
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
Q092. Diabetic Glomerulonephropathy
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.
Q093. Dialysis Cysts of Kidneys
A093. CORTICAL and MEDULLARY cysts due to dialysis
Q094. diethylstilbestrol syndrome
A094. category X teratogen; T-shpaed uterus; vaginal adenosis; predisposition to vaginal clear cell carcinoma; cervical hood; incompetent cervix; preterm delivery
Q095. DiGeorge Syndrome
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
Q096. Down syndrome
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
Q097. Drash syndrome
A097. male pseudohermaphroditism; progressive nephritis; Wilms tumor
Q098. Dressler’s Syndrome
A098. Post-MI Fibrinous Pericarditis; autoimmune fibrinous pericarditis; fever and peripleural chest pain (several weeks after MI)
Q099. Dubin-Johnson syndrome
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
Q100. Duchenee's Muscular Dystrophy
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)
Q101. Dwarfism
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
Q102. Dyke-Davidoff-Masson syndrome
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
Q103. Eaton-Lambert syndrome
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.
Q104. Edwards syndrome
A104. Trisomy 18, 1:8000; Clenched hands; small jaw; low-set ears; retardation; prominent occiput; heart defects; rocker-bottom feet; die at 1
Q105. Ehlers-Danlos (ED) Syndrome
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
Q106. Eisenmenger syndrome
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
Q107. Ellis-van Creveld syndrome
A107. chondro-ectodermal dysplasia; hereditary (esp. seen in Amish of Pennsylvania); polydactyly (100%); congenital heart disease (60%); abnormalities of cutaneous appendages (skin, hair, nails
Q108. empty sella syndrome
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
Q109. Erb-Duchenne Palsy
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
Q110. Essential Fructosuria
A110. AR; Defect in fructokinase --> benign Asymptomatic condition; Elevated Fructose in blood and urine
Q111. Euthyroid sick syndrome
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.
Q112. Eyrthroplasia of Queyrat
A112. carcinoma in situ on glans penis; red, soft lesion
Q113. Fabry's Disease
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
Q114. Familial Adenomatous Polyposis (FAP)
A114. AD - APC gene on Ch 5 (polyp); Covered with polyps in colon post-puberty à CANCER
Q115. Familial Dyslipidemias, Type I
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"
Q116. familial Dyslipidemias, Type IV
A116. Hepatic Overproduction of VLDL à Increased VLDL à Increased TG; Pancreatitis
Q117. Familial hypercholesterolemia (hyperlipidemia type IIA)
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
Q118. Fanconi’s Syndrome
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.)
Q119. Felty’s Syndrome
A119. Rheumatoid arthritis; neutropenia; splenomegaly
Q120. fetal alcohol syndrome
A120. IUGR; midfacial hypoplasia; developmental delay; short palpebral fissures; long filtrum; joint anomalies; cardiac defects
Q121. fetal hydantoin syndrome
A121. due to Dilantin, category D teratogen; IUGR; craniofacial dysmorphism; mental retardation; microcephaly; nail hypoplasia; heart defects
Q122. Focal Segmental Glomerulosclerosis (FSGS)
A122. Nephrotic syndrome - Proteinuria & Edema; Light microscopy finding: focal sclerosis and hyalinosis; Most common glomerular disease in HIV patients. Very severe in HIV patients
Q123. Fragile X Syndrome
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.
Q124. Friedrich's Ataxia
A124. Autosomal Recessive; Trinucleotide (GAA) in frataxin gene; Presents in childhood with kyphoscoliosis; Impaired Mitochondrial functioning; Findings: Frequent falls, Hypertrophic Cardiomyopathy, staggering gait.
Q125. Fructose Intolerance
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
Q126. G6PD deficiency
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
Q127. Galactokinase deficiency
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
Q128. Galactosemia
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
Q129. Gardner's Syndrome
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)
Q130. Gaucher disease
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
Q131. Gerstmann Syndrome
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.
Q132. Gilbert syndrome
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.
Q133. Glanzmann’s Thrombasthenia
A133. Autosomal recessive, Deficiency of Gp lIb-IlIa on platelets; deficient platelet aggregation
Q134. Glycolytic Enzyme Deficiency
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)
Q135. Goldenhar syndrome (oculo-auriculo-vertebral spectrum or hemifacial microsmia)
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
Q136. Goodpasture syndiome
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.
Q137. Gorham-Stout syndrome.
A137. Dissolution of bone caused by either lymphangiomas or hemangiomas
Q138. Grave's disease
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
Q139. Gullian-Barre Syndrome
A139. inflammation/demyelination of peripheral nerves, associated with cross-reacting infections; ascending muscle weakness; cardiac depression; Self-limiting
Q140. Hamman-Rich syndrome
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
Q141. Hand-Schuller-Christian
A141. Chronic progressive histiocytosis
Q142. Hartnup Disease
A142. AR Trait; Defective neutral amino acid transporter on renal and intestinal epithelial cells; Increase tryptophan excretion in urine à PELLAGRA; rashes, neuro probs
Q143. Hashimoto’s Thyroiditis
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
Q144. hemochromatosis
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
Q145. Hemolytic uremic syndrome (HUS)
A145. Occurs most commonly in children; Follows a gastroenteritis with bloody diarrhea; Organism: verotoxin-producing E. coli 0157:H7; Similar clinical pentad,
Q146. hemophilia
A146. sex-linked recessive; arthropathy from repeated intraarticular bleeds; pseudotumors
Q147. Henoch-Schoenlein syndrome
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
Q148. hepatorenal syndrome
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
Q149. Hereditary hemorragic telangiectasia (Osler-Weber-Rendu syndrome
A149. AD, disorder of blood vessels; Telangiectasia; epistaxis; Skin discoloration; arteriovenous malformations
Q150. Hereditary Nonpolyposis colorectal Cancer (HNPCC)
A150. Defect: Mismatch repair à proofreading ability defective
Q151. Hereditary Spherocytosis
A151. AD Trait; Defect: spectrin or ankyrin; Sx: hemolytic anemia (increase MCHC); Treatment: Splenectomy
Q152. Hers Disease
A152. Hepatic glycogen phosphorylase deficiency; relatively mild disease; hypoglycemia; hyperlipidemia; hyperketosis; Hepatomegaly and growth retardation may be present in early childhood
Q153. Hirschsprung's disease
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
Q154. Holt-Oram syndrome
A154. autosomal dominant; congenital heart disease, usually a septal defect; upper limb defect, triphalangeal thumb (uncommon in other disorders)
Q155. Homocystinemia
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.
Q156. Horner’s Syndrome
A156. Ptosis; miosis; anhidrosis; lesion of cervical sympathetic nerves often secondary  to a Pancoast tumor or Brown-Sequard hemisection of cord, or late syringomyelia
Q157. Hunter syndrome
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
Q158. Huntington disease
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
Q159. Hurler syndrome
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
Q160. Hutchinson syndrome
A160. primary adrenal neuroblastoma; extensive skeletal metastases, particularly skull; proptosis (metastases to orbit); bone pain
Q161. Hyper-IgM syndrome
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
Q162. hypoplastic left heart syndrome
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
Q163. I cell disease (Inclusion cell disease)
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
Q164. IgA deficiency
A164. MOST COMMON CAUSE of B-cell defect; infections of mucosal surfaces; sinus and lung infections, milk allergies, diarrhea, giardiasis
Q165. Intermittent Porphyria, Acute
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
Q166. Jacksonian Seizures
A166. Epileptic events originating in the primary motor cortex (area 4)
Q167. Job’s Syndrome
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
Q168. Kaposi Sarcoma
A168. Malignant vascular tumor; HHV8 in homosexual men
Q169. Kartagener syndrome (dysmotile cilia syndrome)
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
Q170. Kasabach-Merritt syndrome
A170. thrombocytopenia caused by sequestration and destruction of platelets in a large cavernous hemangiomas; usually seen in infants, rare in adults
Q171. Kawasaki disease
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
Q172. Klein-Waardenburg syndrome
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
Q173. Klinefelter’s Syndrome
A173. 47, XXY; Long arms; Sterile/infertility; Hypogonadism
Q174. Klippel-Feil syndrome
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%)
Q175. Klumpke's Palsy
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)
Q176. Kluver-Bucy Syndrome
A176. Bilateral lesions of amygdala and hippocampus; hypersexuality; Placidity; Psychic blindness; Hypermetamorphosis; Increased oral exploratory behavior; Anterograde amnesia.
Q177. Korsakoff Syndrome
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
Q178. Krabbe's Disease
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
Q179. Krukenberg Tumor
A179. Adenocarcinoma with signet-ring cells; typically originating from the stomach metastases to the ovaries
Q180. Lactose intolerance
A180. Age Dependent / Hereditary / May follow gastroenteritis; Lactase Deficiency; Loss of Brush Border Enzyme; Bloating, flatulence, cramps, osmotic diarrhea
Q181. Laennec’s Cirrhosis
A181. Alcoholic cirrhosis
Q182. Lambert-Eaton Syndrome
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**
Q183. Leber's hereditary Optic neuropathy
A183. Degeneration of retinal ganglion gells and axons; Mitochondrial Inheritance; Acute loss of central vision (bilaterally)
Q184. Lesch Nyhan Syndrome
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
Q185. Letterer-Siwe syndrome
A185. Acute disseminated Langerhans cell histiocytosis
Q186. leukocyte adhesion deficiency (LAD)
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.
Q187. Libman-Sacks endocarditis
A187. endocarditis with small vegetations on both sides of the valve leaflets; do not embolize; leading to mitral stenosis; associated with SLE
Q188. Li-Fraumini syndrome
A188. Germ-line mutation of p53 on chromosome 17; High rate of many types of tumors
Q189. Lutembacher’s Syndrome
A189. septum secundum atrial septal defect; mitral stenosis
Q190. Lynch Syndrome
A190. autosomal dominant familial colorectal CA; proximal colon cancer due to mutations in DNA mismatch repair; also called HNPCC
Q191. Mafucci syndrome
A191. Rare, multiple enchondromata; 40 - 45% malignant transformation à chondrosarcoma; multiple cavernous hemangiomata; may degenerate à angiosarcoma; Cf: Ollier disease
Q192. majewski
A192. short rib; polydactyly; facial cleft
Q193. Mallory-Weis Syndrome
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)
Q194. Maple Syrup Urine Disease
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.
Q195. Marfan syndrome
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.
Q196. Maternal PKU
A196. Lack in proper dietary during pregnancy; Infant: Microcephaly, Mental Retardation, Growth Retardation, Congenital Heart Defects
Q197. May-White syndrome
A197. familial progressive myoclonus epilepsy; lipomas; deafness; ataxia
Q198. McArdle Disease
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.
Q199. McCune-Albright syndrome
A199. multiple lesions of bone, polyostotic fibrous dysplasia; precocious puberty (33% of females, rarely in males); cafe-au-lait spots (coast of Maine)
Q200. Meckel’s Diverticulum
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
Q201. Meckel-Gruber syndrome
A201. encephalocele; multiple renal cysts
Q202. Medullary Cystic Disease of Kidneys
A202. Medullary Cysts; Poor Prognosis; Ultrasound shows Small Kidney
Q203. Medullary Sponge Disease of Kidneys
A203. Cysts of COLLECTING DUCT; Good prognosis
Q204. Meig’s Syndrome
A204. ovarian fibroma; ascites; hydrothorax
Q205. MEN 1 (Wermer’s Syndrome)
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))
Q206. MEN 2A (Sipple's syndrome)
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
Q207. MEN III (or 2B, Schimke, marfanoid syndrome)
A207. AD trait, RET gene; Medullary thyroid carcinoma; pheocromocytoma; marfanoid habitus; Oral/intestinal ganglioneuromatosis, neuroma or neurofibroma
Q208. Menetrier’s Disease
A208. giant hypertrophic gastritis; parietal cell atrophy, mucous cell hypertrophy; thickened mucosa – rugae; plasma protein loss; Leads to gastric cancer.
Q209. Menkes kinky-hair syndrome
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
Q210. Metachromatic Leukodystrophy
A210. AR trait, Lysosomal Storage Disease; Arylsulfatase A Deficiency à Cerebroside Sulfate Accumulation; Central and Peripheral Demyelination; ataxia; dementia
Q211. microcephaly
A211. most frequent consequence of radiation
Q212. Mikulicz syndrome
A212. enlargement of the salivary and lacrimal glands; in Sjogren syndrome
Q213. Milroy Disease
A213. congenital lymphatic malformation / lymphedema
Q214. Minimal Change Disease
A214. Nephrotic Syndrome - Massive proteinuria (>3.5g) and edema; Most common in kids (postinfectious); RESPONDS TO CORTICOSTEROIDS; EM: podocyte foot process effacement. LM: Normal
Q215. Mirizzi syndrome
A215. incomplete obstruction of Common hepatic Duct; inflammation due to stone lodged in cystic duct or GALLBLADDER neck
Q216. Mitochondrial Encephalomyopathies with Lactic Acidosis and Stroke-like symptoms (MELAS)
A216. Mitochondrial encephalomyopathy; lactic acidosis; stroke-like episodes; mitochondrial DNA (mtDNA) diseases
Q217. Mitochondrial Myopathies
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)
Q218. mitral valve prolapse (Barlow) syndrome
A218. scoliosis; straight back; pectus excavatum; (any of above seen in 60-75%)
Q219. Mixed Connective Tissue Disease (MCTD)
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
Q220. MLF Syndrome
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.
Q221. Monckeberg’s Arteriosclerosis
A221. Calcification of the media; usually radial & ulnar artery
Q222. Morquio syndrome
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
Q223. Mounier-Kuhn syndrome
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
Q224. Muir-Torre syndrome
A224. autosomal dominant inheritance; soft tissue tumors: keratoacanthoma, actinic keratosis, etc. internal malignancies (50% gastrointestinal, 25% genito- urinary); high incidence of colonic polyps
Q225. Munchausen Syndrome
A225. Factitious disorder; consciously creates symptoms, but doesn’t know why
Q226. Myasthenia Gravis
A226. Neuromuscular Junction Disorder characterized by autoantibodies against POSTsynaptic ACh receptors; **Symptoms WORSEN with use**; Ptosis, Diplopia; General Weakness; Treatment: AChE inhibitors
Q227. myeloperoxidase deficiency
A227. autosomal recessive; have oxidative burst and makes peroxide, but does not have MPO à can't make bleach to kill bacteria
Q228. myeloschisis
A228. failure of vertebral arch to enclose vertebral canal; neural tissue exposed
Q229. nail-patella syndrome
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
Q230. Nelson’s Syndrome
A230.  Adrenal Cushings →  surgical removal of adrenals →  loss of negative feedback to pituitary → Pituitary Adenoma; extreme hyperpigmentation after adrenalectomy
Q231. Neurofibromatosis 1 (Von Reckilghausen's disease)
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
Q232. Neurofibromatosis 2
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
Q233. Niemann Pick Disease
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
Q234. Nutmeg liver
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
Q235. Ornithine Transcarbamoylase (OTC) deficiency
A235. XLR; Defect: Can’t eliminate ammonia; Excess carbamoyl phyosphate à Increase Orotic Acid à Orotic Acid in Blood and Urine; low BUN; hyperammonemia
Q236. Orotic Aciduria
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
Q237. Osler-Weber-Rendu Syndrome (Hereditary hemorrhagic telangiectasia)
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.
Q238. Osteitis Fibrosa Cystica (Von Recklinghausen's disease)
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
Q239. Osteogenesis Imperfecta
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
Q240. Pancoast Tumor
A240. Bronchogenic tumor with superior sulcus involvement; Horner’s Syndrome
Q241. Parinaud syndrome (supranuclear palsy)
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.
Q242. Parkinson's Disease
A242. atrophy of caudate nucleus, loss of dopamine neurons. Resting tremor; akinesia; blank face
Q243. Patau's syndrome
A243. Trisomy 13; 1:15,000; Severe mental retardation; microphthalmia (small eyes), microcephaly; cleft-lip/palate; polydactyly and holoprosencephaly; death <1 year old
Q244. pauci-immune crescentic glomerulonephritis, primary
A244. - vasculitis limited to kidney
Q245. PDH deficiency
A245. Lactic acidosis; Neurologic deficits in alcoholic; PDH
Q246. Pelizaeus-Merzbacher syndrome
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)
Q247. Pepper syndrome
A247. primary adrenal neuroblastoma; massive hepatomegaly from metastases
Q248. Peutz-Jegher’s Syndrome
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
Q249. Peyronie’s Disease
A249. Subcutaneous fibrosis of dorsum of penis
Q250. Phenylketonuria
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.
Q251. Pick’s Disease
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
Q252. Pickwickian syndrome
A252. obesity hypoventilation syndrome; obesity; sleep apnea
Q253. Plummer’s Syndrome
A253. hyperthyroidism; Toxic multinodular goiter, TSH independent nodules; absence of eye signs and pretibial myxedema
Q254. Plummer-Vinson syndrome
A254. Middle-aged women; Esophageal webs, dysphagia for solids; Iron deficiency anemia,; koilonychia (spoon nails); achloryhydria, glossitis; Increased risk of esophageal carcinoma.
Q255. Poland anomaly/syndrome
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.
Q256. Polycystic kidney disease, Adult (ADPKD)
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
Q257. Polycystic Kidney Disease, Infantile (ARPKD)
A257. Infantile Presentation of MULTIPLE, LARGE, BILATERAL RENAL CYSTS causing DESTRUCTION of PARENCHYMA; Autosomal Recessive; Associated with Hepatic Cysts, Fibrosis
Q258. polycystic ovarian syndrome
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
Q259. Polyostotic Fibrous Dysplasia
A259. Bone replaced by fibroblasts & collagen. McCune Albright is a good example
Q260. Pompe’s Disease (Type II glycogen storage disease)
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.
Q261. Porphyria Cutanea Tarda
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.
Q262. Porphyria, Acute Intermittent (AIP)
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
Q263. Pott’s Disease
A263. Tuberculous osteomyelitis of the vertebrae
Q264. Potter syndrome
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
Q265. Prader Willi Syndrome
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
Q266. progeria (Hutchinson-Gilford) syndrome
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
Q267. prune belly (Eagle-Barrett) syndrome
A267. absent abdominal musculature; undescended testes; dilated ureters & calyces; clubbed feet; heart & lung abnormalities; ** predominantly in males
Q268. Pulmonary Fibrosis, Idiopathic
A268. *Chronic Inflammation of the alveolar wall; Fibrosis; csytic spaces; usually occurs in the sixth genration of life; *Honeycomb lung; fatal within years
Q269. pulmonary venolobar (scimitar) syndrome
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
Q270. Pyruvate Dehydrogenase Deficiency
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
Q271. Rathke's pouch
A271. Ectodermal remnants above the sella turcica; Develops a craniopharyngioma, destroys pituitary gland; Cystic tumor with hemorrhage and calcification; Bitemporal hemianopsia
Q272. Raynaud's Disease
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)
Q273. Reiter syndrome
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%).
Q274. Reye syndrome
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)
Q275. Riedel's thyroiditis
A275. idiopathic Fibrous replacement of thyroid tissue. Painless, fixed, hard goiter. Most patients are EUTHYROID.
Q276. right middle lobe syndrome
A276. controversial; associated with asthma; cough, wheezing, recurrent pneumonia; XR findings: total or partial RML atelectasis; +/- bronchial narrowing
Q277. Riley-Day syndrome
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
Q278. Roger’s Disease
A278. Interventricular septal defect
Q279. Rotor syndrome
A279. Autosomal recessive, Mild defect Bilirubin Diglucuronide Transport to intestine; Conjugated hyperbilirubinemia; Similar to Dubin-Johnson but without liver pigmentation; No clinical consequences
Q280. Sandifer syndrome
A280. seen in infants; torsion spasms of head + neck, occasionally of upper torso; associated with "rumination syndrome"; regurgitation + re-chewing; secondary to hiatus hernia
Q281. Schilder syndrome
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
Q282. Schmidt’s Syndrome
A282. Autoimmnue thyroid Disease (Hashimoto’s ) plus; insulin-dependent diabetes
Q283. scimitar syndrome
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
Q284. sclerosing cholangitis, primary
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
Q285. Severe combined immunodeficiency (SCID)
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!!
Q286. Sezary Syndrome
A286. Leukemic form of cutaneous T-cell lymphoma; mycosis fungoides
Q287. Shaver’s Disease
A287. Aluminum inhalation;  lung fibrosis
Q288. Sheehan's syndrome
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
Q289. Shy-Drager disease
A289. ANS failure; Parkinsonism; autonomic dysfunction; orthostatic hypotension
Q290. SIADH
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
Q291. Sicca syndrome
A291. Dry eyes; dry mouth; dry nose; dry vagina; chronic bronchitis. Like Sjogren's, but no ARTHRITIS
Q292. sickle cell anemia
A292. autosomal recessive; bone infarcts; arthritic change; Sickle cells
Q293. Simmond’s Disease
A293. Pituitary cachexia; can occur from either pituitary tumors or Sheehan’s
Q294. Simple Cysts of Kidneys
A294. Benign finding; CORTEX only
Q295. Sjogren syndrome
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
Q296. spina bifida
A296. local failure of the vertebral arch to enclose the vertebral canal
Q297. spina bifida occulta
A297. failure of vertebral arch to enclose vertebral canal - bony defect only; skin attached at various points
Q298. Spitz Nevus
A298. Juvenile melanoma; always benign
Q299. Stein-Leventhal syndrome
A299. Polycystic ovary; see amenorrhea; infertility; obesity; hirsutism = increase LH secretion
Q300. Stevens-Johnson Syndrome
A300. Erythema multiforme; fever, malaise; mucosal ulceration; often secondary  to infection = mycoplasma or sulfa drugs
Q301. Still’s Disease
A301. Juvenile rheumatoid arthritis; absence of rheumatoid factor
Q302. Sturge Weber Syndrome
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%)
Q303. Subacute Combined Degeneration
A303. Loss of Dorsal Columns and Lateral Corticospinal Tract; Due to B12 deficiency; ataxic gait; + Romberg; impaired position and vibration sense.
Q304. subclavian steal syndrome
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
Q305. superior mesenteric artery (SMA) syndrome
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
Q306. superior vena cava syndrome
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
Q307. Swyer-James syndrome
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)
Q308. Syringomyelia
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.
Q309. Takayasu’s arteritis
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
Q310. Tay-Sachs Disease
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
Q311. Tetralogy of Fallot
A311. VSD; overriding aorta; pulmonary artery stenosis; right ventricular hypertrophy
Q312. Tourette syndrome
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
Q313. tricho-rhino-phalangeal syndrome
A313. a heritable syndrome; brachydactyly; sparce scalp hair; broad, pear shaped nose.
Q314. Trinucleotide repeat expansion diseases
A314. huntingtons; myotonic dystrophy; Friedreich's ataxia; fragile X syndrome; May show anticipation (disease severity increases and age of onset decreases in successive generations)
Q315. Tuberous sclerosis
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
Q316. Turcot syndrome
A316. AR trait, Rare variant of FAP (Familial adenomatous polyposis); onset in teens; Numerous colonic adenoma to us polyps; CNS tumors (gliomas, astrocytomas, medulloblastomas).
Q317. Turner syndrome
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%)
Q318. Uncal Herniation Syndrome
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.
Q319. Uncoupling Agents
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
Q320. Unhappy Triad
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)
Q321. VATER syndrome
A321. V: vertebral anomalies, vascular anomalies; A: anal atresia; T: tracheo-esophageal fistula; E: esophageal atresia; R: renal anomalies, radial dysplasia
Q322. Velocardiofacial syndrome
A322. another 22q11 deletion syndrome; only palate, heart, and face defects
Q323. Verner-Morrison (WDHA) syndrome
A323. WDHA syndrome, vasoactive intestinal peptide (VIP) secreted by pancreatic islet-cell tumor (VIPoma); watery diarrhea; hypokalemia; achlorhydria
Q324. Virchow's Triad
A324. blood stasis; hypercoagulability; endothelial damage; Predisposes to clot formation and pulmonary embolism
Q325. von Gierke’s Disease
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
Q326. Von hippel landau Disease
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%)
Q327. von Recklinghausen’s Disease of Bone
A327. osteitis fibrosa cystica (“brown tumor”); secondary to hyperparathyroidism; fibrous replacement
Q328. von Willebrand’s Disease
A328. AD Trait, defect in platelet adhesion secondary to deficiency in vWF; Easy brusing, bleeding into joints; increase PT/aPPT, increase Bleed time
Q329. Waldenstrom macroglobulinemia
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
Q330. Wallenberg’s Syndrome (PICA syndrome)
A330. Posterior Inferior Cerebellar Artery (PICA) thrombosis; Lateral medulla involvement; Ipsilateral: ataxia, facial pain & temp loss; Contralateral: body pain & temp loss
Q331. Waterhouse-Friderichsen syndrome
A331. Acute Adrenal insufficiency with hemorrhagic necrosis; Secondary to DIC of meningiococcemia; Endotoxic shock and DIC; Treatment: antibiotics and steroid replacement.
Q332. Weber’s Syndrome
A332. Paramedian Infarct of Midbrain; Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
Q333. Wegener's granulomatosis
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
Q334. Werdnig-Hoffman disease
A334. Infantile spinal muscular atrophy; Autosomal Recessive; Degeneration of anterior horns; All LMN findings. Tongue fasciculations; Avg age of death <7mo.
Q335. Wernicke’s Aphasia
A335. - injury to Wernicke's area; Sensory Aphasia; Speech is fast and makes no sense; impaired comprehension
Q336. Wernicke-Korsakoff Syndrome
A336. Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua); Wernicke peripheral neuropathy: atxia, Ophthalmoplegia, nystagmus; Korsakoff psychosis: Memory loss and confabulation; Cerebral hemorrhage
Q337. Whipple’s Disease
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
Q338. Williams elfin-facies syndrome
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
Q339. Wilms' Tumor
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
Q340. Wilson's Disease
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
Q341. Wiscott-Aldrich syndrome
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.
Q342. Wolff-Chaikoff Effect
A342. High iodine level; Decreases thyroid hormone synthesis
Q343. Wolf-Parkinson-White Syndrome
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
Q344. Xeroderma Pigmentosum
A344. Defect in Endonuclease = defect in Nucleotide Excision repair or Base Excision repair; Dry skin; melanoma and other cancers
Q345. X-linked recessive disorders
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
Q346. Zellweger syndrome
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.
Q347. Zenker's diverticulum
A347. Most common esophageal diverticulum; Cricopharyngeal muscle dysfunction; Increased oropharyngeal pressure causes mucosal herniation; Dysphagia, halitosis, obstruction
Q348. Zollinger-Ellison syndrome
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