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