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USMLE
General Pathology 2
| Question | Answer |
|---|---|
| Diseases associated with alcohol | Thiamine deficiency (Wernicke-Korsakoff), macrocytic anemia (folate deficiency), Mallory-Wiess, Boerhaave's syndrome, cirrhosis, esophageal varices, acute pancreatitis, congestive cardiomyopathy, hyperlipidemia |
| Down syndrome | Trisomy 21 due to meiotic nondisjunction (95%) or robertsonian translocation (4%); Severe mental retardation, mongoloid features, brushfeld spots, simian crease, heart defects, duodenal atresia, Hirchsprung, ALL, Alzheimer's by age 40 |
| Edward syndrome | Trisomy 18. Mental retardation, low set ears, micrognathia, heart defects, overlapping flexed fingers, rocker-bottom feet |
| Patau syndrome | Trisomy 13. Mental retardation, cleft lip or palate, cardiac defects, renal defects, microcephaly, polydactyly |
| Cri du chat | 5p deletion. Cat-like cry, mental retardation, heart defects, microcephaly |
| Klinefelter syndrome | 47XXY. Male hypogonadism, testicular atrophy, infertility, female distribution of hair, gynecomastia, elevated LH/FSH, loe levels of testosterone |
| Turner syndrome | 45X0. Female hypogonadism, no barr body, no secondary sex characteristics, short stature, widely spaced niples, gonadal dysgenesis, amenorrhea, infertility, hypothyroidism, preductal coarctation of the aorta, bicuspid aortic valve |
| Female hermaphrodite | 46XX. Female internal organs, virilized external genitalia. Cause: congenital adrenal hyperplasia, androgen-producing tumor |
| Male hermaphrodite | 46XY. Testes present, female genitalia, testicular feminization. Cause: androgen insensitivity syndrome |
| Ccystic Phibrosis | Chloride Channel protein defect, DP508 on chromosome 7. Recurrent psudomona/staph infections, chronic bronchitis, bronchiectasis, atrophy of pancreatic ducts, pancreatic insuficiency, fat malabsorbtion, steatorrhea, infertility, meconium ileum, elevated N |
| PKU | Deficiency of phenylalanine hydroxylase. Mental retardation by 6 months, light-colored hair and skin, musty odor. Avoid aspartame, monitor pregnancy |
| Alkaptonuria | "Black Homo" homogentisic acid oxidase deficiency. Black urine, black cartilage |
| Albinism | Tyrosinase deficiency. Increased risk of squamous carcinoma, no melanin |
| Von Gierke disease | Glucose 6 phosphatase deficiency. Hepatomegaly, fasting hypoglycemia, hyperuricemia |
| Pompe disease | Lysosomal alpha 1-4 glucosidase deficiency. Hepatomegaly, muscle hypotonia, cardiomegaly |
| McArdle disease | Myophosphorylase deficiency. Excersice-induced muscle cramps |
| Tay SaX | Hexosaminidase A deficiency with acumulation of glangliocerebroside GM2. Mutation of HEXA gene on chromoseme 15. Cherry-red spot on retina |
| Nieman PickS | Sphingomyelinase deficiency. Cherry-red spot on retina, hepatosplenomegaly, zebra bodie on EM |
| Gaucher disease | Glucocerebrosidase deficiency. In adulthood, hepatosplnomegaly, hypersplnism, lymphadenopathy |
| Mucopolysaccharidosis | Glycosaminoglycans acumulation. Mental retardation, cloudy cornea, coarse facial features, hepatosplnomegaly, skeletal deformities |
| Familial hypercholesterolemia | Mutation on LDL receptor gene on chromosome 19. Xanthomas, xanthelasmas, atherosclerosis |
| Marfan syndrome | Mutation of fibrillin gene on 15q. Tall, thin with big extremities, hyperextensible joints, pectus excavatum, ectopia lentis, disecting aortic aneurysm, aortic insuficiency, mitral prolapse |
| Ehlers-Danlos | Hyperxtensible skin and joints. Collagen gene defects |
| Menkes disease | Mutation in Cu+ efflux protein gene. High concentration of Cu+ that cant be released. Associated with Ehlers-Danlos type 9 |
| Neurofibromatosis type 1 | Von Recklinghousen disease (has 17 letters). NF-1 tumor suppressor gene mutation on chromosome 17. Normal gene product neurofibromim inhibits p21 ras oncoprotein. Neurofibromas, café-au-lait spots, Lisch nodules (pigmented iris hamartomas) |
| Neurofibromatosis type 2 | NF-2 tumor suppressor gene mutation on chromosome 22. Bilateral acoustic neuromas, café-au-lait spots, pheochromocytoma |
| Von Hippel Lindau disease | Mutation on VPL tumor suppressor gene on chromosome 3p. Retinal hemangioblastoma, hemangioblastoma of cerebellum, brainstem and spinal cord, cysts of the liver, pancreas and kidneys, bilateral renal carcinomas |
| Fragile X syndrome | X-linked dominant mutations on FMR-1 gene. CGG triplet repeats. Retardation elongated face with large jaws, large everted ears, macroorchidism |
| Huntington disease | CAG triplet repeats of huntington gene produces neurotoxic protein. Progressive dementia, choreiform movements |
| Prader-Willi syndrome | Deletion of paternal 15q. Mental retardation, obesity, hypogonadism, hypotonia |
| Angelman syndrome | deletion of maternal 15q. Retardation, seizures, ataxia, inapropriate happy-puppet laughter |
| Homocystinuria | Cysthathione synthase deficiency. Resembles Marfan. Ectopic lens, arachnodactyly, eunuchoid proportions osteoporosis, atherosclerosis, DVT |
| Classic 21B-Ohase deficiency | Hypovolemia, hyponatremia, female pseudohermaphrodite, hirsutism (increased 17 KS), skin hyperpigmentation (high ACTH increases melanin). Labs: increased serum 17OH-progesterone, hyperkalemia, metabolic acidosis, increased 17KS, decreased 17OHCS, hypocort |
| Non-classic 21B-Ohase deficiency | Increase in 17 KS, hirsutism, no salt loss, acne in females, secondary amenorrhea. Labs: increased 17OH pregenterone |
| Classic 11OHase deficiency | Salt retention/hypertension (11-deoxycorticosterone), increased 17KS (virilization), skin hyperpigmentation |
| 17OHase deficiency | Salt retention, hypertension, (aldosterone), female hypogonadism (decreased 17KS), male pseudohermaphrodite (low 17KS). Labs: low 17KS, 17OHCS, hypocortisolism, increased ACTH |
| Clinical features of SLE | Type II and III hypersensitivity reactions. Pancytopenia, arthritis, butterfly rash, diffuse proliferative glomerulonephritis, Libman-Sacks endocarditis. ANA, anti-DNA, anti-Sm, anti-histone (drug-induced lupus). Rx.: steroids |
| Sjogren syndrome | Autoantibodies against lacrimal and salivary glands. Keratoconjunctivitis, corneal ulcers (dry eyes), xestomia (dry mouth). Anti-Ro (SS-A), anti-La (SS-B). 15% of rheumathoid arthritis patients have Sjogren. |
| Mikulicz syndrome | Enlargement of the salivary and lacrimal glands associated with Sjogren syndrome |
| Diffuse scleroderma | Fibroblast stimulation and deposition of collagen in the skin and internal organs. Anti-DNA topoisomarease I (Scl-70) (helicase). Skin involvement, dysphagia, malabsorption, pulmonary fibrosis (dyspnea), cardiac fibrosis (arrhythmias), kidney fibrosis (re |
| Localized scleroderma (CREST) | Fibroblast stimulation and deposition of collagen. Anti-centromere antibodies. Calcinosis, Raynaud, esophageal dysmoility, sclerodactyly, telangiectasia. |
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