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94 Cards in this Set
- Front
- Back
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Kartagener's Syndrome
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immotile cilia due to dynein defects. Infertility, recurrent respiratory infections, situs inversus
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Ehlers-Danlos Syndrome
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defect in type 3 collagen. elastic skin, extendable joints, easy bruising. associated with berry aneurysms
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Lesch-Nyhan Syndrome
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absence of HGPRT, which turns hypoxanthine into IMP and guanine into GMP. retardation, self-mutilation, aggression, gout, hyperuricemia
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Von-Gierke's Disease
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lack glucose-6-phosphate. fasting hypoglycemia, hepatomegaly, too much normal glycogen, no gluconeogenesis. (Type 1 GSD)
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Pompe's Disease
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lack lysosomal acid maltase. Can't degrade glycogen in lysosomes. cardiomegaly, early death. (Type 2 GSD)
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Cori's Disease
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Lack debranching enzyme. impaired glycogenolysis, normal gluconeogenesis. (Type 3 GSD)
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McArdle's Disease
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lack glycogen phosphorylase in skeletal muscle. too much glycogen in muscle. Muscle cramps/pain with exercise. (Type 5 GSD)
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Fabry's Disease
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X-linked recessive lack of a-galactosidase. peripheral neuropathy, angiokeratoma, heart/kidney disease
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Gaucher's Disease
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Autosomal recessive lack of beta-glucocerebroside. hepatosplenomegaly, femur necrosis, bone crisis, crumply macrophages
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Niemann-Pick Disease
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Autosomal recessive lack of sphingomyelinase. neurodegeneration, hepatosplenomegaly, cherry red spot
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Tay-Sachs Disease
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Autosomal Recessive lack of hexosaminidase A. neurodegeneration, developmental delay, cherry red spot, layered lysosomes
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Krabbe's Disease
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Autosomal recessive lack of galactocerebroside. peripheral neuropathy, developmental delay, optic atrophy, globoid cells
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Hurler's Syndrome
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Autosomal recessive lack of A-L iduronidase. Developmental delay, airway obstruction, hepatosplenomegaly, gargoyle-like face, corneal clouding
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Hunter's Syndrome
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X-linked recessive lack of iduronate sulfatase. aggressive behavior, mild developmental delay, short stature, NO EYE INVOLVEMENT
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Marfan's Syndrome
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mutation in fibrillin leads to connective tissue issues. tall, long extremities, aortic weakness, floppy mitral valve, lens subluxation in eye
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von-Hippel Lindau disease
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autosomal dominant deletion of VHL gene on chromosome 3p. hemangioblastoma in retina/brain, renal cancer
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Huntington's Disease
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Autosomal dominant CAG repeats on chromosome 4. dementia, chorea, brain atrophy, decreased GABA in brain
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Dushenne's Dystrophy
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X-linked recessive deletion of dystrophin gene. cardiomyopathy, big calves, central muscle weakness
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Becker's Dystrophy
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X-linked recessive mutation in dystrophin gene. mild cardiomyopathy, mild muscle weakness
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Down Syndrome
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trisomy 21. mental retardation, flat face, heart defects, Alzheimers, unlined hands. Very common
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Edward's Syndrome
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trisomy 18. Severe mental retardation, small jaw, big head, low-set ears, rocker-bottom feet. Death within one year
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Patau's Syndrome
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trisomy 13. Severe mental retardation, small eyes, small head, cleft palate, polydactyly. Death within 1 year
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Cri-du-Chat Syndrome
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deletion of part of chromosome 5p. small head, severe mental retardation, heart problems, cat-like cry
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Bruton's Disease
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X-linked recessive defect in tyrosine kinase gene leads to low immunoglobin production. recurrent bacterial infections
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DiGeorge Syndrome
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deletion on chromosome 22q11 leads to pharyngeal pouch 3 and 4 not developing. No thymus, parathyroid, possible heart defects. recurrent viral/fungal infections, hypoclacemia
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Wiskott-Alldritch Syndrome
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X-linked, can't produce IgM. High IgA. recurrent pyogenic infection, thrombocytopenic purpura, eczema
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Job's Syndrome
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Helper T cells do not produce interferon gamma, so neutrophils fail to activate. Coarse facies, cold abscesses, baby teeth, eczema, high IgE
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Chediak-Higashi Disease
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Autosomal recessive defect in microtubules and lysosomal emptying. recurrent staph/strep infections, albinism, neuropathy
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Plummer-Vinson Syndrome
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iron deficiency leading to atrophied tongue, esophageal webs, anemia. Leads to esophageal cancer
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Wolf-Parkinson-White Syndrome
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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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Eisenmenger's Syndrome
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Uncorrected ASD, VSD, or patent ductus leads to pulmonary hypertension and cyanosis
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Tetrology of Fallot
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Pulmonary stenosis, right ventricle hypertrophy, overriding aorta, and ventricular septal defect. causes cyanotic spells
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Virchow's Triad
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blood stasis, hypercoagulability, endothelial damage. Predisposes to clot formation and pulmonary embolism
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Raynaud's Disease
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arteriolar spasm causes decreased blood flow to the skin due to cold or stress
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Wegener's Granulomatosis
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c-ANCA gene causes necrotizing vasculitis, necrotizing granulomas in lung and trachea, and necrotizing glomerulonephritis
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Churg-Strauss Syndrome
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p-ANCA gene causes granulomatous vasculitis with increased eosinophils in lung, heart, skin, kidneys, nerves.
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Sturge-Weber Disease
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capillary vascular disorder. Port wine stain on face, leptomeningeal angiomatosis.
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Henoch-Schonlein purpura
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vasculitis of small vessels in skin, joints, GI. affects children.
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Buerger's Disease
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seen in smokers. vasculitis of small/medium vessels, leads to thrombosis, cold sensitivity, pain, gangrene. Also called thromboangiitis obliterans
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Kawasaki Disease
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acute, self-limiting vasculitis of small/medium vessels in children. fever, conjunctivits, "strawberry tongue"
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Takayasu's Disease
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granulomatous thickening of aortic arch. weak pulses, fever, arthritis, night sweats, pain, eye problems.
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Cushing's Syndrome
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increased cortisol due to pituitary adenoma, adrenal hyperplasia, cancer. Hyperglycemia, central obesity, skin striae, immune suppression
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Conn's Syndrome
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aldosterone-producing tumor leading to hypertension, hypokalemia, alkalosis, low renin
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Addison's Disease
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autoimmune adrenal damage leading to low aldosterone and low cortisol. Hypotension, skin hyperpigmentation
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Waterhouse-Friedrichsen Syndrome
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acute adrenal insufficiency due to hemorrhage or sepsis
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Sheehan's Syndrome
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postpartum hypopituitarism due to infarct and bleeding during delivery. fatigue, anorexia, poor lactation, hair loss
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Wermer's Syndrome
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autosomal dominant tumors of pancreas, parathyroid, pituitary (MEN1). presents with kidney stones and stomach ulcers.
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Sipple's Syndrome
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autosomal dominant tumors of thyroid, pheocromocytoma, parathyroid (MEN2). Problems with the RET gene
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Graves Disease
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Autoimmune hyperthyroidism, the antibodies are stimulatory. Low TSH, proptosis, pretibial myxedema, goiter
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Hashimoto's Disease
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Autoimmune hypothyroidism. The antibodies are destructive. cold intolerance, weight gain, brittle hair
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Zollinger-Ellison Syndrome
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gastrin-secreting tumor in pancreas or duodenum. Causes recurrent ulcers
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Barrett's Esophagus
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chronic acid reflux causes metaplasia in esophagus, turns to intestinal columnar epithelium. Leads to esophageal adenocarcinoma
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Mallory-Weiss Syndrome
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painful mucosal lacerations due to severe vomiting. Seen in alcoholics and bulimics
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Plummer-Vinson Syndrome
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Triad of dysphagia due to esophageal webs, glossitis, and iron deficiency anemia
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Whipple's Disease
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bacterial infection of macrophages of the intestinal wall. arthralgia, cardiac, neuro symptoms. Seen in old men.
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Menetrier's Disease
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stomach hypertrophy with protein loss, parietal cell atrophy, mucous cell hypertrophy. Leads to gastric cancer.
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Crohn's Disease
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Autoimmune bowel inflammation, with skip lesions, rectal sparing, cobblestone mucosa, granulomas, fistula, malabsorption
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Zenker's Diverticulum
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herniation of esophageal mucosa. Dysphagia, halitosis, obstruction
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Meckel's Diverticulum
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remnant of vitelline duct causes a pouch in the intestines containing gastric/pancreatic tissue. bleeding, intussusseption, volvulus, obstruction
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Hirschsprung's Disease
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constricted area of intestine causes backup and dilation behind it. Due to lack of ennervation to bowel segment. Chronic constipation early in life
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Gardener's Syndrome
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familial adenomatous polyposis with bone/soft tissue tumors, retinal hyperplasia
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Turcot's Syndrome
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familial adenomatous polyposis with glioblastoma
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Lynch Syndrome
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proximal colon cancer due to mutations in DNA mismatch repair. also called HNPCC
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Peutz-Jehgers Syndrome
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hamatoma polyps in colon, hyperpigmented mucosa, increased risk of colon, pancreas, breast, stomach, ovary cancer
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Reye's Syndrome
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fatty liver, hypoglycemia, coma. Results from childhood viral infections treated with salicyates (aspirin, pepto bismol)
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Budd-Chiari Syndrome
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Blocked inferior vena cava or hepatic veins, leads to liver congestion/necrosis. hepatomegaly, ascities, belly pain, liver failure.
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Gilbert's Syndrome
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decreased activity of UDP glucuronyl transferase in liver. elevated unconjugated bilirubin. Asymptomatic, associated with stress
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Crigler-Najjar Syndrome
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Absent EDP glucuronyl transferase in liver. Jaundice, kernicterus, high unconjugated bilirubin. Death early in life.
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Dubin-Johnson Syndrome
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Defective liver excretion of conjugated bilirubin. Liver is black colored. No real symptoms.
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Rotor's Syndrome
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Mild defect in conjugated bilirubin secretion from the liver. Asymptomatic.
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Wilson's Disease
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Autosomal recessive defect in hepatic copper excretion, leads to copper deposits in tissue. Asterixis, parkinsonian symptoms, corneal deposits, liver damage, dementia
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von Willebrand's Disease
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lack of vWF leads to low clotting factor 8 levels and defective platelet adhesion. Easy brusing, bleeding into joints, elevated PT/PTT
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Bernard-Soulier Disease
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low levels of GP1b on platelet surfaces leads to increased bleeding time and decreased platelet count
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Hogkin's Lymphoma
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localized cancerous lymph nodes, constitutional symptoms, Reed-Steenberg (owl eye) cells, common in very young or very old people
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Burkitt's Lymphoma
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diffuse B-cell cancer, associated with EBV, tumors contain macrophages and are in pelvis or abdomen or jaw
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Waldenstrom's macroglobinemia
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plasma cell cancer producing lots of IgM. Leads to very viscous blood. Does not cause bone lesions.
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Paget's Disease of the Bone
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osteoclast/osteoblast balance is off, uncontrolled bone remodelling. Can lead to hearing loss, CHF, bone sarcoma
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Ewing's sarcoma
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malignant bone tumor in boys under 15. tumor has onion-skin appearance, found in the shaft of long bones, pelvis, scapula, ribs
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Sjorgen's Syndrome
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triad of dry eyes, dry mouth, and arthritis. Due to autoantibodies to ribonucleoproteins. Affects females more often
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Reiter's Syndrome
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triad of conjunctivitis, urethritis, and arthritis. Due to prior GI or chlamydia infections
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Lambert-Eaton syndrome
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autoantibodies to presynaptic nerve Ca++ channels. Associated with some cancers. Pain/weakness improves with muscle use.
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Brown-Sequard Syndrome
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Hemisection of spinal cord. Below the lesion: ipsilateral loss of fine touch, vibration, proprioception; contralateral loss of pain and temperature
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Horner's Syndrome
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Ptosis, flushing, no sweating, pupil constriction on one side of face. Due to sympathetic de-ennervation from spinal cord injuries above T1
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Broca's Aphasia
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injury to Broca's area. Speech is slow and halting, understanding is just fine
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Wernicke's Aphasia
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injury to Wernicke's area. Speech is fast and makes no sense, understanding is impaired
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Alzheimer's Disease
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extracellular b-amyloid plaques, intracellular tau tangles in brain neurons. Dementia.
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Pick's Disease
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intracellular tau protein in neurons. dementia, aphasia, parkinsonian symptoms
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Lewy Body dementia
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defect in a-synuclein causes parkinsonism, dementia, hallucinations
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Creutzfeld-Jakob disease
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prion disease causing spongiform encephalopathy, dementia. Very fast acting
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Parkinson's Disease
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atrophy of caudate nucleus, loss of dopamine neurons. Resting tremor, akinesia, blank face
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Lou Gehrig's Disease (ALS)
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defect in superoxide dismutase causes nerve damage. motor dysfunction, no sensory impairment
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Wrndig-Hoffman Disease
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autosomal recessive degeneration of anterior horns of spinal cord. floppy baby, tongue fasciculations, death before 7 months old
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Gullian-Barre Syndrome
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inflammation/demyelination of peripheral nerves, associated with cross-reacting infections. ascending muscle weakness, cardiac depression. Self-limiting
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Bell's palsy
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destruction of facial nerve or nucleus. lower face paralysis on affected side. Associated with AIDS, lyme disease, sarcoid, diabetes
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