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194 Cards in this Set
- Front
- Back
Addison’s Disease
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1. Primary adrenocortical deficiency
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Addisonian Anemia
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2. Pernicious anemia (antibodies to intrinsic factor or parietal cells ® ¯IF ® ¯Vit B12 ® megaloblastic anemia)
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Albright’s Syndrome
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3. Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
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Alport’s Syndrome
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4. Hereditary nephritis with nerve deafness
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Alzheimer’s
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5. Progressive dementia
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Argyll-Robertson Pupil
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6. Loss of light reflex constriction (contralateral or bilateral)
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7. “Prostitute’s Eye” – accommodates but does not react
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8. Pathognomonic for 3°Syphilis
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9. Lesion pretectal region of superior colliculus
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Arnold-Chiari Malformation
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10. Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
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Barrett’s
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11. Columnar metaplasia of lower esophagus ( risk of adenocarcinoma)- constant gastroesophageal reflux
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Bartter’s Syndrome
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12. Hyperreninemia
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Becker’s Muscular Dystrophy
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13. Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)
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Bell’s Palsy
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14. CNVII palsy (entire face; recall that UMN lesion only affects lower face)
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Berger’s Disease
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15. IgA nephropathy causing hematuria in kids, usually following infection
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Bernard-Soulier Disease
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16. Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
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Berry Aneurysm
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17. Circle of Willis (subarachnoid bleed) Anterior Communicating artery
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18. Often associated with ADPKD
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Bowen’s Disease
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19. Carcinoma in situ on shaft of penis ( risk of visceral ca) [compare w/ Queyrat]
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Brill-Zinsser Disease
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20. Recurrences of rickettsia prowazaki up to 50 yrs later
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Briquet’s Syndrome
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21. Somatization disorder
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22. Psychological: multiple physical complaints without physical pathology
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Broca’s Aphasia
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23. Motor Aphasia (area 44 & 45) intact comprehension
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Brown-Sequard
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24. Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)
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Bruton’s Disease
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25. X-linked agammaglobinemia (¯ B cells)
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Budd-Chiari
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26. Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure
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Buerger’s Disease
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27. Acute inflammation of medium and small arteries of extremities ® painful ischemia ® gangrene
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28. Seen almost exclusively in young and middle-aged men who smoke.
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Burkitt’s Lymphoma
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29. Small noncleaved cell lymphoma EBV
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30. 8:14 translocation
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31. Seen commonly in jaws, abdomen, retroperitoneal soft tissues
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32. Starry sky appearance
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Caisson Disease
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33. Nitric gas emboli
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Chagas’ Disease
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34. Trypansoma infection - cardiomegaly with apical atrophy, achlasia
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Chediak-Higashi Disease
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35. (AR) Phagocyte Deficiency = defect in microtubule polymerization
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36. Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph
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Conn’s Syndrome
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37. Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ¯ renin
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Cori’s Disease
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38. Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. Glycogen)
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Creutzfeldt-Jakob
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39. Prion infection ® cerebellar & cerebral degeneration
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Crigler-Najjar Syndrome
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40. Congenital hyperbilirubinemia (unconjugated)
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41. Glucuronyl transferase deficiency. Can progress to Kernicterus
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42. Less severe form will respond to Phenobarbital therapy
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Crohn’s
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43. IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
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44. (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, colon cancer risk)
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45. Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures
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Curling’s Ulcer
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46. Acute gastric ulcer associated with severe burns
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Cushing’s
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47. Disease: Hypercorticism 2° to ACTH from pituitary (basophilic adenoma)
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48. Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
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49. - moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia
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Cushing’s Ulcer
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50. Acute gastric ulcer associated with CNS trauma
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de Quervain’s Thyroiditis
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51. Self-limiting focal destruction (subacute thyroiditis)
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DiGeorge’s Syndrome
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52. Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
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53. Thymic hypoplasia ® T-cell deficiency
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54. Hypoparathyroidism à Tetany
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Down’s Syndrome
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55. Trisomy 21 or translocation – Simian Crease
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Dressler’s Syndrome
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56. Post-MI Fibrinous Pericarditis autoimmune
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Dubin-Johnson Syndrome
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57. Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
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58. Striking brown-to-black discoloration of the liver
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Duchenne Muscular Dystrophy
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59. Deficiency of dystrophin protein ® MD X-linked recessive
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Edwards’ Syndrome
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60. Trisomy 18
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61. Rocker-bottom feet, low ears, small lower jaw, heart disease
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Ehler’s-Danlos
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62. Defective collagen
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Eisenmenger’s Complex
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63. Late cyanotic shunt (R®L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA
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Erb-Duchenne Palsy
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64. Trauma to superior trunk of brachial plexus Waiter’s Tip
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Ewing Sarcoma
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65. Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22
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Eyrthroplasia of Queyrat
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66. Carcinoma in situ on glans penis
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Fanconi’s Syndrome
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67. Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
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Felty’s Syndrome
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68. Rheumatoid arthritis, neutropenia, splenomegaly
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Gardner’s Syndrome
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69. AD = adenomatous polyps of colon, osteomas & soft tissue tumors
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Gaucher’s Disease
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70. Lysosomal Storage Disease glucocerebrosidase deficiency – glucocerebroside accumulation
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71. Hepatosplenomegaly, femoral head & long bone erosion, anemia
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Gilbert’s Syndrome
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72. Benign congenital hyperbilirubinemia (unconjugated) = ¯d glucuronyl transferase activity
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Glanzmann’s Thrombasthenia
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73. Defective glycoproteins on platelets = deficient platelet aggregation
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Goodpasture’s
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74. Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s
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Grave’s Disease
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75. Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4
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Guillain-Barre
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76. Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)
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Hamman-Rich Syndrome
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77. Idiopathic pulmonary fibrosis. Can see honey comb lung.
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Hand-Schuller-Christian
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78. Chronic progressive histiocytosis
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Hashimoto’s Thyroiditis
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79. Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
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Hashitoxicosis
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80. Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
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Henoch-Schonlein purpura
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81. Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
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82. Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
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83. Associated with upper respiratory infections
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Hirschprung’s Disease
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84. Aganglionic megacolon
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Horner’s Syndrome
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85. Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
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Huntington’s (Chromosome 4)
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86. AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ¯ GABA
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Jacksonian Seizures
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87. Epileptic events originating in the primary motor cortex (area 4)
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Job’s Syndrome
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1. Immune deficiency: neutrophils fail to respond to chemotactic stimuli
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2. Defective neutrophilic chemotactic response = repeated infections
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3. Commonly seen in light-skinned, red-haired girls
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88. ’d IgE levels
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Kaposi Sarcoma
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89. Malignant vascular tumor (HHV8 in homosexual men)
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Kartagener’s Syndrome
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90. Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility
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Kawasaki Disease
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91. Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
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Klinefelter’s Syndrome
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92. 47, XXY: Long arms, Sterile, Hypogonadism
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Kluver-Bucy
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93. Bilateral lesions of amygdala (hypersexuality; oral behavior)
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Krukenberg Tumor
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94. Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to
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95. the ovaries
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Laennec’s Cirrhosis
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96. Alcoholic cirrhosis
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Lesch-Nyhan
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97. HGPRT deficiency
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98. Gout, retardation, self-mutilation
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Letterer-Siwe
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99. Acute disseminated Langerhans’ cell histiocytosis
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Libman-Sacks
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100. Endocarditis with small vegetations on valve leaflets
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101. Associated with SLE
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Lou Gehrig’s
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102. Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
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Mallory-Weis Syndrome
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103. Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
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Marfan’s
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104. Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses
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McArdle’s Disease
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105. Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = Glycogen)
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Meckel’s Diverticulum
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106. Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
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107. Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk
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Meig’s Syndrome
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108. Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries
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Menetrier’s Disease
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109. Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
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Monckeberg’s Arteriosclerosis
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110. Calcification of the media (usually radial & ulnar aa.)
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Munchausen Syndrome
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111. Factitious disorder (consciously creates symptoms, but doesn’t know why)
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Nelson’s Syndrome
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112. 1° Adrenal Cushings ® surgical removal of adrenals ® loss of negative feedback to pituitary ® Pituitary Adenoma
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Niemann-Pick
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113. Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
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114. “Foamy histiocytes”
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Osler-Weber-Rendu Syndrome
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115. Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.
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Paget’s Disease
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116. Abnormal bone architecture (thickened, numerous fractures ® pain)
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Pancoast Tumor
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117. Bronchogenic tumor with superior sulcus involvement ® Horner’s Syndrome
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Parkinson’s
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118. Dopamine depletion in nigrostriatal tracts
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Peutz-Jegher’s Syndrome (AD)
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119. Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
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Peyronie’s Disease
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120. Subcutaneous fibrosis of dorsum of penis
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Pick’s Disease – 2 Different Diseases -
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121. 1. Progressive dementia similar to Alzheimer’s
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122. 1. Constrictive pericarditis – sequel to mediastinal tuberculosis
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123. Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole
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Plummer’s Syndrome
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124. Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)
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Plummer-Vinson
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125. Esophageal webs & iron-deficiency anemia, spoon-shaped nails, SCCA of esophagus
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Pompe’s Disease
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126. Type II Glycogenosis – Glycogen storage disease ® cardiomegaly (a 1,4 Glucosidase deficiency: Glycogen)
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Pott’s Disease
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127. Tuberculous osteomyelitis of the vertebrae
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Potter’s Complex
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128. Renal agenesis ® oligohydramnios ® hypoplastic lungs, defects in extremities
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Raynaud’s
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129. Disease: recurrent vasospasm in extremities = seen in young, healthy women
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130. Phenomenon: 2° to underlying disease (SLE or scleroderma)
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Reiter’s Syndrome
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131. Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
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Reye’s Syndrome
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132. Microvesicular fatty liver change & encephalopathy
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133. 2° to aspirin ingestion in children following viral illness, especially VZV
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Riedel’s Thyroiditis
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134. Idiopathic fibrous replacement of thyroid
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Rotor Syndrome
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135. Congenital hyperbilirubinemia (conjugated)
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136. Similar to Dubin-Johnson, but no discoloration of the liver
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Sezary Syndrome
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137. Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
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Shaver’s Disease
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138. Aluminum inhalation ® lung fibrosis
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Sheehan’s Syndrome
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139. Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery
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Shy-Drager
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140. Parkinsonism with autonomic dysfunction & orthostatic hypotension
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Simmond’s Disease
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141. Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s
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Sipple’s Syndrome
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142. MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism
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Sjogren’s Syndrome
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143. Triad: dry eyes, dry mouth, arthritis risk of B-cell lymphoma
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Spitz Nevus
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144. Juvenile melanoma (always benign)
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Stein-Leventhal
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145. Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = LH secretion
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Stevens-Johnson Syndrome
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146. Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma or sulfa drugs)
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Still’s Disease
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147. Juvenile rheumatoid arthritis (absence of rheumatoid factor)
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Takayasu’s arteritis
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148. Aortic arch syndrome
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149. Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats.
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150. Common in young Asian females
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Tay-Sachs (AR)
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151. Gangliosidosis (hexosaminidase A deficiency ® GM2 ganglioside) Cherry Red Spots of the Macula
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Tetralogy of Fallot
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152. 1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy
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Tourette’s Syndrome
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153. Involuntary actions, both motor and vocal Txt w/ Pimozide
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Turcot’s Syndrome
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154. Colon adenomatous polyps plus CNS tumors
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Turner’s Syndrome
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155. 45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.
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Vincent’s Infection
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156. “Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium
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Von Gierke’s Disease
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157. Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton
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Von Hippel-Lindau
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158. Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
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159. Adenomas of the viscera, especially Renal Cell Carcinoma
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160. Chromosome 3p
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Von Recklinghausen’s
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161. Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)
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Von Recklinghausen’s Disease of Bone
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162. Osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism = osteoclastic resorption w/
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163. fibrous replacement
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Von Willebrand’s Disease (AD)
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164. Defect in platelet adhesion 2° to deficiency in vWF. aPPT, Bleed time
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Waldenstrom’s macroglobinemia
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165. Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies
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Wallenberg’s Syndrome
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166. Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
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167. Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
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Waterhouse-Friderichsen
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168. Adrenal insufficiency 2° to DIC
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169. DIC 2° to meningiococcemia
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Weber’s Syndrome
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170. Paramedian Infarct of Midbrain
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171. Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
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Wegener’s Granulomatosis
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172. Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
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Weil’s Disease
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173. Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis
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174. Dark field microscopy for dx
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Wermer’s Syndrome
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175. MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
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Wernicke’s Aphasia
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176. Sensory Aphasia impaired comprehension
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Wernicke-Korsakoff Syndrome
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177. Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)
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Whipple’s Disease
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178. Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
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Wilson’s Disease
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179. Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin)
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180. Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
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181. Chromosome 13
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Wiskott-Aldrich Syndrome
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182. Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
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183. ¯ IgM w/ IgA
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Wolff-Chaikoff Effect
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184. High iodine level (-)’s thyroid hormone synthesis
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Zenker’s Diverticulum
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185. Esophageal; cricopharyngeal muscles above UES
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Zollinger-Ellison
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186. Gastrin-secreting tumor of pancreas (or intestine) ® acid ® recurrent ulcers
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Roger’s Disease
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187. Interventricular septal defect
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Barlow’s Syndrome
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188. Floppy vale syndrome – women b/t 20-40 yoa
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Bracht-Wachter Lesions
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189. Minute abscesses found in subacute bacterial endocarditis
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Lutembacher’s Syndrome
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190. Combination of septum secundum atrial septal defect w/ mitral stenosis
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Schmidt’s Syndrome
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191. Autoimmnue thyroid Disease (Hashimoto’s ) & insulin-dependent diabetes
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