Flashcards in gold usmle: Diseases Deck (146)
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61
Hirschprungs Disease
Aganglionic megacolon
62
Horners Syndrome
Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
63
Huntingtons (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
Jobs 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
Kartageners 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
Klinefelters 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
Laennecs 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 Gehrigs
Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
77
Mallory-Weis Syndrome
Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
78
Marfans
Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses
79
McArdles Disease
Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = ↑ Glycogen)
80
Meckels Diverticulum
Rule of 2s: 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
Meigs Syndrome
Triad: ovarian fibroma, ascites, hydrothorax associated w/ fibroma of ovaries
82
Menetriers Disease
Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
83
Monckebergs Arteriosclerosis
Calcification of the media (usually radial & ulnar aa.)
84
Munchausen Syndrome
Factitious disorder (consciously creates symptoms, but doesnt know why)
85
Nelsons 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 Mormons of Utah.
88
Pagets Disease
Abnormal bone architecture (thickened, numerous fractures → pain)
89
Pancoast Tumor
Bronchogenic tumor with superior sulcus involvement → Horners Syndrome
90