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Flashcards in gold usmle: Diseases Deck (146)
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61

Hirschprung’s Disease

Aganglionic megacolon

62

Horner’s Syndrome

Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)

63

Huntington’s (Chromosome 4)

AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ↓ GABA

64

Jacksonian Seizures

Epileptic events originating in the primary motor cortex (area 4)

65

Job’s Syndrome

Immune deficiency: neutrophils fail to respond to chemotactic stimuli
2. Defective neutrophilic chemotactic response = repeated infections
3. Commonly seen in light-skinned, red-haired girls
88. ↑’d IgE levels

66

Kaposi Sarcoma

Malignant vascular tumor (HHV8 in homosexual men)

67

Kartagener’s Syndrome

Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility

68

Kawasaki Disease

Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)

69

Klinefelter’s Syndrome

47, XXY: Long arms, Sterile, Hypogonadism

70

Kluver-Bucy

Bilateral lesions of amygdala (hypersexuality; oral behavior)

71

Krukenberg Tumor

Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to
95. the ovaries

72

Laennec’s Cirrhosis

Alcoholic cirrhosis

73

Lesch-Nyhan

HGPRT deficiency
98. Gout, retardation, self-mutilation

74

Letterer-Siwe

Acute disseminated Langerhans’ cell histiocytosis

75

Libman-Sacks

Endocarditis with small vegetations on valve leaflets
101. Associated with SLE

76

Lou Gehrig’s

Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons

77

Mallory-Weis Syndrome

Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)

78

Marfan’s

Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses

79

McArdle’s Disease

Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = ↑ Glycogen)

80

Meckel’s Diverticulum

Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
107. Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk

81

Meig’s Syndrome

Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries

82

Menetrier’s Disease

Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)

83

Monckeberg’s Arteriosclerosis

Calcification of the media (usually radial & ulnar aa.)

84

Munchausen Syndrome

Factitious disorder (consciously creates symptoms, but doesn’t know why)

85

Nelson’s Syndrome

1° Adrenal Cushings → surgical removal of adrenals → loss of negative feedback to pituitary →Pituitary Adenoma

86

Niemann-Pick

Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
114. “Foamy histiocytes”

87

Osler-Weber-Rendu Syndrome

Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.

88

Paget’s Disease

Abnormal bone architecture (thickened, numerous fractures → pain)

89

Pancoast Tumor

Bronchogenic tumor with superior sulcus involvement → Horner’s Syndrome

90

Parkinson’s

Dopamine depletion in nigrostriatal tracts