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Eponymous Diseases

カード 94枚 作成者: KenB (作成日: 2014/01/04)

  • Kartagener's Syndrome

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  • 1

    Kartagener's Syndrome

    補足(例文と訳など)

    答え

    • immotile cilia due to dynein defects. Infertility, recurrent respiratory infections, situs inversus

    解説

  • 2

    Ehlers-Danlos Syndrome

    補足(例文と訳など)

    答え

    • defect in type 3 collagen. elastic skin, extendable joints, easy bruising. associated with berry aneurysms

    解説

  • 3

    Lesch-Nyhan Syndrome

    補足(例文と訳など)

    答え

    • absence of HGPRT, which turns hypoxanthine into IMP and guanine into GMP. retardation, self-mutilation, aggression, gout, hyperuricemia

    解説

  • 4

    Von-Gierke's Disease

    補足(例文と訳など)

    答え

    • lack glucose-6-phosphate. fasting hypoglycemia, hepatomegaly, too much normal glycogen, no gluconeogenesis. (Type 1 GSD)

    解説

  • 5

    Pompe's Disease

    補足(例文と訳など)

    答え

    • lack lysosomal acid maltase. Can't degrade glycogen in lysosomes. cardiomegaly, early death. (Type 2 GSD)

    解説

  • 6

    Cori's Disease

    補足(例文と訳など)

    答え

    • Lack debranching enzyme. impaired glycogenolysis, normal gluconeogenesis. (Type 3 GSD)

    解説

  • 7

    McArdle's Disease

    補足(例文と訳など)

    答え

    • lack glycogen phosphorylase in skeletal muscle. too much glycogen in muscle. Muscle cramps/pain with exercise. (Type 5 GSD)

    解説

  • 8

    Fabry's Disease

    補足(例文と訳など)

    答え

    • X-linked recessive lack of a-galactosidase. peripheral neuropathy, angiokeratoma, heart/kidney disease

    解説

  • 9

    Gaucher's Disease

    補足(例文と訳など)

    答え

    • Autosomal recessive lack of beta-glucocerebroside. hepatosplenomegaly, femur necrosis, bone crisis, crumply macrophages

    解説

  • 10

    Niemann-Pick Disease

    補足(例文と訳など)

    答え

    • Autosomal recessive lack of sphingomyelinase. neurodegeneration, hepatosplenomegaly, cherry red spot

    解説

  • 11

    Tay-Sachs Disease

    補足(例文と訳など)

    答え

    • Autosomal Recessive lack of hexosaminidase A. neurodegeneration, developmental delay, cherry red spot, layered lysosomes

    解説

  • 12

    Krabbe's Disease

    補足(例文と訳など)

    答え

    • Autosomal recessive lack of galactocerebroside. peripheral neuropathy, developmental delay, optic atrophy, globoid cells

    解説

  • 13

    Hurler's Syndrome

    補足(例文と訳など)

    答え

    • Autosomal recessive lack of A-L iduronidase. Developmental delay, airway obstruction, hepatosplenomegaly, gargoyle-like face, corneal clouding

    解説

  • 14

    Hunter's Syndrome

    補足(例文と訳など)

    答え

    • X-linked recessive lack of iduronate sulfatase. aggressive behavior, mild developmental delay, short stature, NO EYE INVOLVEMENT

    解説

  • 15

    Marfan's Syndrome

    補足(例文と訳など)

    答え

    • mutation in fibrillin leads to connective tissue issues. tall, long extremities, aortic weakness, floppy mitral valve, lens subluxation in eye

    解説

  • 16

    von-Hippel Lindau disease

    補足(例文と訳など)

    答え

    • autosomal dominant deletion of VHL gene on chromosome 3p. hemangioblastoma in retina/brain, renal cancer

    解説

  • 17

    Huntington's Disease

    補足(例文と訳など)

    答え

    • Autosomal dominant CAG repeats on chromosome 4. dementia, chorea, brain atrophy, decreased GABA in brain

    解説

  • 18

    Dushenne's Dystrophy

    補足(例文と訳など)

    答え

    • X-linked recessive deletion of dystrophin gene. cardiomyopathy, big calves, central muscle weakness

    解説

  • 19

    Becker's Dystrophy

    補足(例文と訳など)

    答え

    • X-linked recessive mutation in dystrophin gene. mild cardiomyopathy, mild muscle weakness

    解説

  • 20

    Down Syndrome

    補足(例文と訳など)

    答え

    • trisomy 21. mental retardation, flat face, heart defects, Alzheimers, unlined hands. Very common

    解説

  • 21

    Edward's Syndrome

    補足(例文と訳など)

    答え

    • trisomy 18. Severe mental retardation, small jaw, big head, low-set ears, rocker-bottom feet. Death within one year

    解説

  • 22

    Patau's Syndrome

    補足(例文と訳など)

    答え

    • trisomy 13. Severe mental retardation, small eyes, small head, cleft palate, polydactyly. Death within 1 year

    解説

  • 23

    Cri-du-Chat Syndrome

    補足(例文と訳など)

    答え

    • deletion of part of chromosome 5p. small head, severe mental retardation, heart problems, cat-like cry

    解説

  • 24

    Bruton's Disease

    補足(例文と訳など)

    答え

    • X-linked recessive defect in tyrosine kinase gene leads to low immunoglobin production. recurrent bacterial infections

    解説

  • 25

    DiGeorge Syndrome

    補足(例文と訳など)

    答え

    • deletion on chromosome 22q11 leads to pharyngeal pouch 3 and 4 not developing. No thymus, parathyroid, possible heart defects. recurrent viral/fungal infections, hypoclacemia

    解説

  • 26

    Wiskott-Alldritch Syndrome

    補足(例文と訳など)

    答え

    • X-linked, can't produce IgM. High IgA. recurrent pyogenic infection, thrombocytopenic purpura, eczema

    解説

  • 27

    Job's Syndrome

    補足(例文と訳など)

    答え

    • Helper T cells do not produce interferon gamma, so neutrophils fail to activate. Coarse facies, cold abscesses, baby teeth, eczema, high IgE

    解説

  • 28

    Chediak-Higashi Disease

    補足(例文と訳など)

    答え

    • Autosomal recessive defect in microtubules and lysosomal emptying. recurrent staph/strep infections, albinism, neuropathy

    解説

  • 29

    Plummer-Vinson Syndrome

    補足(例文と訳など)

    答え

    • iron deficiency leading to atrophied tongue, esophageal webs, anemia. Leads to esophageal cancer

    解説

  • 30

    Wolf-Parkinson-White Syndrome

    補足(例文と訳など)

    答え

    • alternate conduction pathway in the heart bypasses the AV node, leads to delta wave before the QRS complex on EKG and possible ventricular tachycardia

    解説

  • 31

    Eisenmenger's Syndrome

    補足(例文と訳など)

    答え

    • Uncorrected ASD, VSD, or patent ductus leads to pulmonary hypertension and cyanosis

    解説

  • 32

    Tetrology of Fallot

    補足(例文と訳など)

    答え

    • Pulmonary stenosis, right ventricle hypertrophy, overriding aorta, and ventricular septal defect. causes cyanotic spells

    解説

  • 33

    Virchow's Triad

    補足(例文と訳など)

    答え

    • blood stasis, hypercoagulability, endothelial damage. Predisposes to clot formation and pulmonary embolism

    解説

  • 34

    Raynaud's Disease

    補足(例文と訳など)

    答え

    • arteriolar spasm causes decreased blood flow to the skin due to cold or stress

    解説

  • 35

    Wegener's Granulomatosis

    補足(例文と訳など)

    答え

    • c-ANCA gene causes necrotizing vasculitis, necrotizing granulomas in lung and trachea, and necrotizing glomerulonephritis

    解説

  • 36

    Churg-Strauss Syndrome

    補足(例文と訳など)

    答え

    • p-ANCA gene causes granulomatous vasculitis with increased eosinophils in lung, heart, skin, kidneys, nerves.

    解説

  • 37

    Sturge-Weber Disease

    補足(例文と訳など)

    答え

    • capillary vascular disorder. Port wine stain on face, leptomeningeal angiomatosis.

    解説

  • 38

    Henoch-Schonlein purpura

    補足(例文と訳など)

    答え

    • vasculitis of small vessels in skin, joints, GI. affects children.

    解説

  • 39

    Buerger's Disease

    補足(例文と訳など)

    答え

    • seen in smokers. vasculitis of small/medium vessels, leads to thrombosis, cold sensitivity, pain, gangrene. Also called thromboangiitis obliterans

    解説

  • 40

    Kawasaki Disease

    補足(例文と訳など)

    答え

    • acute, self-limiting vasculitis of small/medium vessels in children. fever, conjunctivits, "strawberry tongue"

    解説

  • 41

    Takayasu's Disease

    補足(例文と訳など)

    答え

    • granulomatous thickening of aortic arch. weak pulses, fever, arthritis, night sweats, pain, eye problems.

    解説

  • 42

    Cushing's Syndrome

    補足(例文と訳など)

    答え

    • increased cortisol due to pituitary adenoma, adrenal hyperplasia, cancer. Hyperglycemia, central obesity, skin striae, immune suppression

    解説

  • 43

    Conn's Syndrome

    補足(例文と訳など)

    答え

    • aldosterone-producing tumor leading to hypertension, hypokalemia, alkalosis, low renin

    解説

  • 44

    Addison's Disease

    補足(例文と訳など)

    答え

    • autoimmune adrenal damage leading to low aldosterone and low cortisol. Hypotension, skin hyperpigmentation

    解説

  • 45

    Waterhouse-Friedrichsen Syndrome

    補足(例文と訳など)

    答え

    • acute adrenal insufficiency due to hemorrhage or sepsis

    解説

  • 46

    Sheehan's Syndrome

    補足(例文と訳など)

    答え

    • postpartum hypopituitarism due to infarct and bleeding during delivery. fatigue, anorexia, poor lactation, hair loss

    解説

  • 47

    Wermer's Syndrome

    補足(例文と訳など)

    答え

    • autosomal dominant tumors of pancreas, parathyroid, pituitary (MEN1). presents with kidney stones and stomach ulcers.

    解説

  • 48

    Sipple's Syndrome

    補足(例文と訳など)

    答え

    • autosomal dominant tumors of thyroid, pheocromocytoma, parathyroid (MEN2). Problems with the RET gene

    解説

  • 49

    Graves Disease

    補足(例文と訳など)

    答え

    • Autoimmune hyperthyroidism, the antibodies are stimulatory. Low TSH, proptosis, pretibial myxedema, goiter

    解説

  • 50

    Hashimoto's Disease

    補足(例文と訳など)

    答え

    • Autoimmune hypothyroidism. The antibodies are destructive. cold intolerance, weight gain, brittle hair

    解説

  • 51

    Zollinger-Ellison Syndrome

    補足(例文と訳など)

    答え

    • gastrin-secreting tumor in pancreas or duodenum. Causes recurrent ulcers

    解説

  • 52

    Barrett's Esophagus

    補足(例文と訳など)

    答え

    • chronic acid reflux causes metaplasia in esophagus, turns to intestinal columnar epithelium. Leads to esophageal adenocarcinoma

    解説

  • 53

    Mallory-Weiss Syndrome

    補足(例文と訳など)

    答え

    • painful mucosal lacerations due to severe vomiting. Seen in alcoholics and bulimics

    解説

  • 54

    Plummer-Vinson Syndrome

    補足(例文と訳など)

    答え

    • Triad of dysphagia due to esophageal webs, glossitis, and iron deficiency anemia

    解説

  • 55

    Whipple's Disease

    補足(例文と訳など)

    答え

    • bacterial infection of macrophages of the intestinal wall. arthralgia, cardiac, neuro symptoms. Seen in old men.

    解説

  • 56

    Menetrier's Disease

    補足(例文と訳など)

    答え

    • stomach hypertrophy with protein loss, parietal cell atrophy, mucous cell hypertrophy. Leads to gastric cancer.

    解説

  • 57

    Crohn's Disease

    補足(例文と訳など)

    答え

    • Autoimmune bowel inflammation, with skip lesions, rectal sparing, cobblestone mucosa, granulomas, fistula, malabsorption

    解説

  • 58

    Zenker's Diverticulum

    補足(例文と訳など)

    答え

    • herniation of esophageal mucosa. Dysphagia, halitosis, obstruction

    解説

  • 59

    Meckel's Diverticulum

    補足(例文と訳など)

    答え

    • remnant of vitelline duct causes a pouch in the intestines containing gastric/pancreatic tissue. bleeding, intussusseption, volvulus, obstruction

    解説

  • 60

    Hirschsprung's Disease

    補足(例文と訳など)

    答え

    • constricted area of intestine causes backup and dilation behind it. Due to lack of ennervation to bowel segment. Chronic constipation early in life

    解説

  • 61

    Gardener's Syndrome

    補足(例文と訳など)

    答え

    • familial adenomatous polyposis with bone/soft tissue tumors, retinal hyperplasia

    解説

  • 62

    Turcot's Syndrome

    補足(例文と訳など)

    答え

    • familial adenomatous polyposis with glioblastoma

    解説

  • 63

    Lynch Syndrome

    補足(例文と訳など)

    答え

    • proximal colon cancer due to mutations in DNA mismatch repair. also called HNPCC

    解説

  • 64

    Peutz-Jehgers Syndrome

    補足(例文と訳など)

    答え

    • hamatoma polyps in colon, hyperpigmented mucosa, increased risk of colon, pancreas, breast, stomach, ovary cancer

    解説

  • 65

    Reye's Syndrome

    補足(例文と訳など)

    答え

    • fatty liver, hypoglycemia, coma. Results from childhood viral infections treated with salicyates (aspirin, pepto bismol)

    解説

  • 66

    Budd-Chiari Syndrome

    補足(例文と訳など)

    答え

    • Blocked inferior vena cava or hepatic veins, leads to liver congestion/necrosis. hepatomegaly, ascities, belly pain, liver failure.

    解説

  • 67

    Gilbert's Syndrome

    補足(例文と訳など)

    答え

    • decreased activity of UDP glucuronyl transferase in liver. elevated unconjugated bilirubin. Asymptomatic, associated with stress

    解説

  • 68

    Crigler-Najjar Syndrome

    補足(例文と訳など)

    答え

    • Absent EDP glucuronyl transferase in liver. Jaundice, kernicterus, high unconjugated bilirubin. Death early in life.

    解説

  • 69

    Dubin-Johnson Syndrome

    補足(例文と訳など)

    答え

    • Defective liver excretion of conjugated bilirubin. Liver is black colored. No real symptoms.

    解説

  • 70

    Rotor's Syndrome

    補足(例文と訳など)

    答え

    • Mild defect in conjugated bilirubin secretion from the liver. Asymptomatic.

    解説

  • 71

    Wilson's Disease

    補足(例文と訳など)

    答え

    • Autosomal recessive defect in hepatic copper excretion, leads to copper deposits in tissue. Asterixis, parkinsonian symptoms, corneal deposits, liver damage, dementia

    解説

  • 72

    von Willebrand's Disease

    補足(例文と訳など)

    答え

    • lack of vWF leads to low clotting factor 8 levels and defective platelet adhesion. Easy brusing, bleeding into joints, elevated PT/PTT

    解説

  • 73

    Bernard-Soulier Disease

    補足(例文と訳など)

    答え

    • low levels of GP1b on platelet surfaces leads to increased bleeding time and decreased platelet count

    解説

  • 74

    Hogkin's Lymphoma

    補足(例文と訳など)

    答え

    • localized cancerous lymph nodes, constitutional symptoms, Reed-Steenberg (owl eye) cells, common in very young or very old people

    解説

  • 75

    Burkitt's Lymphoma

    補足(例文と訳など)

    答え

    • diffuse B-cell cancer, associated with EBV, tumors contain macrophages and are in pelvis or abdomen or jaw

    解説

  • 76

    Waldenstrom's macroglobinemia

    補足(例文と訳など)

    答え

    • plasma cell cancer producing lots of IgM. Leads to very viscous blood. Does not cause bone lesions.

    解説

  • 77

    Paget's Disease of the Bone

    補足(例文と訳など)

    答え

    • osteoclast/osteoblast balance is off, uncontrolled bone remodelling. Can lead to hearing loss, CHF, bone sarcoma

    解説

  • 78

    Ewing's sarcoma

    補足(例文と訳など)

    答え

    • malignant bone tumor in boys under 15. tumor has onion-skin appearance, found in the shaft of long bones, pelvis, scapula, ribs

    解説

  • 79

    Sjorgen's Syndrome

    補足(例文と訳など)

    答え

    • triad of dry eyes, dry mouth, and arthritis. Due to autoantibodies to ribonucleoproteins. Affects females more often

    解説

  • 80

    Reiter's Syndrome

    補足(例文と訳など)

    答え

    • triad of conjunctivitis, urethritis, and arthritis. Due to prior GI or chlamydia infections

    解説

  • 81

    Lambert-Eaton syndrome

    補足(例文と訳など)

    答え

    • autoantibodies to presynaptic nerve Ca++ channels. Associated with some cancers. Pain/weakness improves with muscle use.

    解説

  • 82

    Brown-Sequard Syndrome

    補足(例文と訳など)

    答え

    • Hemisection of spinal cord. Below the lesion: ipsilateral loss of fine touch, vibration, proprioception; contralateral loss of pain and temperature

    解説

  • 83

    Horner's Syndrome

    補足(例文と訳など)

    答え

    • Ptosis, flushing, no sweating, pupil constriction on one side of face. Due to sympathetic de-ennervation from spinal cord injuries above T1

    解説

  • 84

    Broca's Aphasia

    補足(例文と訳など)

    答え

    • injury to Broca's area. Speech is slow and halting, understanding is just fine

    解説

  • 85

    Wernicke's Aphasia

    補足(例文と訳など)

    答え

    • injury to Wernicke's area. Speech is fast and makes no sense, understanding is impaired

    解説

  • 86

    Alzheimer's Disease

    補足(例文と訳など)

    答え

    • extracellular b-amyloid plaques, intracellular tau tangles in brain neurons. Dementia.

    解説

  • 87

    Pick's Disease

    補足(例文と訳など)

    答え

    • intracellular tau protein in neurons. dementia, aphasia, parkinsonian symptoms

    解説

  • 88

    Lewy Body dementia

    補足(例文と訳など)

    答え

    • defect in a-synuclein causes parkinsonism, dementia, hallucinations

    解説

  • 89

    Creutzfeld-Jakob disease

    補足(例文と訳など)

    答え

    • prion disease causing spongiform encephalopathy, dementia. Very fast acting

    解説

  • 90

    Parkinson's Disease

    補足(例文と訳など)

    答え

    • atrophy of caudate nucleus, loss of dopamine neurons. Resting tremor, akinesia, blank face

    解説

  • 91

    Lou Gehrig's Disease (ALS)

    補足(例文と訳など)

    答え

    • defect in superoxide dismutase causes nerve damage. motor dysfunction, no sensory impairment

    解説

  • 92

    Wrndig-Hoffman Disease

    補足(例文と訳など)

    答え

    • autosomal recessive degeneration of anterior horns of spinal cord. floppy baby, tongue fasciculations, death before 7 months old

    解説

  • 93

    Gullian-Barre Syndrome

    補足(例文と訳など)

    答え

    • inflammation/demyelination of peripheral nerves, associated with cross-reacting infections. ascending muscle weakness, cardiac depression. Self-limiting

    解説

  • 94

    Bell's palsy

    補足(例文と訳など)

    答え

    • destruction of facial nerve or nucleus. lower face paralysis on affected side. Associated with AIDS, lyme disease, sarcoid, diabetes

    解説

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