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General Pathology 2

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.
Created by: Asclepius



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