USMLE Gold Pearls

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USMLE Gold Pearls
2010-04-05 22:41:45

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  1. Albright's Syndrome
    Polystotic fibrous dysplasia, precocious puberty, cafe au lait spots, short statue, young gir.s
  2. Addisonian Anemia
    Pernicious anemia (antibodies to intrinsic factor or parietal cells - decrease IF - decrease Vit B12 - megaloblastic anemia)
  3. Addison's Disease
    Primary adrenocortical deficiency
  4. Alport's Syndrome
    Hereditary nephritis with nerve deafness
  5. Alzheimer's
    Progressive dementia
  6. Argyll-Robertson Pupil
    • Loss of light reflex constriction (contralateral or bilateral)
    • "Prostitute's Eye" - accommodates but does not react
    • Pathognomic for 3-syphilis
    • Lesion pretectal region of superior colliculus
  7. Arnold-Chiari Malformation
    Cerebellar tonsil herniation through foramen magnum - see thoracolumber meningomyelocele
  8. Barrett's
    Columnar metaplasia of lower esophagus (increased risk of ADCA) - constant gastroesophageal reflux
  9. Bartter's Syndrome
  10. Becker's Muscular Dystrophy
    Similar to Duchenne, but less severe (mutation, not deficiency in dystrophin protein)
  11. Bell's Palsy
    CN VII (entire face: recall that UMN lesion only effects lower face)
  12. Berger's Disease
    IgA nephropathy causing hematuria in kids, usually following infection
  13. Bernard-Soulier Disease
    Defect in platelet adhesion (abnormally large platelets and lack of platelet-surface glycoprotein)
  14. Berry Aneurysm
    • Circle of Willis (subarachnoid bleed); Anterior Communicating artery
    • Often associated with ADPKD
  15. Bowen's Disease
    Carcinorma in situ on shaft of penis (increased risk of visceral Ca) - [compare with Queyrat]
  16. Brill-Zinsser Disease
    Recurrence of rickettsia prowazaki up to 50 years later
  17. Briquet's Syndrome
    • Somatization disorder
    • Psychological: multiple physical complaints w/o physical pathology
  18. Broca's Aphasia
    Motor aphasia (area 44 and 45) intact comprehension
  19. Brown-Sequard
    Hemisection of cord (contralateral loss of pain and temp / ipsilateral loss of fine touch, UMN / ipsilateral loss of conscious proprioception)
  20. Bruton's Disease
    X-linked agammaglobinemia (decreased B cells)
  21. Budd-Chiari
    Post-hepatic venous thrombosis = abdominal pain; hepatomegaly; ascites; portal HTN; liver failure
  22. Buerger's Disease
    • Acute inflammation of medium and small arteries of extremities - painful ischemia - gangrene
    • Seen almost exclusively in young and middle-aged men who smoke
  23. Burkitt's Lymphoma
    • Small noncleaved cell lymphoma - EBV
    • 8:14 translocation
    • Seen commonly in jaws, abdomen, retroperitoneal soft tissue
    • Starry sky appearance
  24. Caisson Disease
    Nitric gas emboli
  25. Chagas' Disease
    Trypansoma infection - cardiomegaly with apical atrophy, achlasia
  26. Chediak-Higashi Disease
    • (AR) Phagocyte Deficiency = defect in microtubule polymerization
    • Neutropenia, albinism, cranial and peripheral neuropathy and repeated infections w/ strep and staph
  27. Conn's Syndrome
    Primary Aldosteronism: HTN, retain Na+ and H2O; hypokalemia (causing alkalosis); decreased renin
  28. Cori's Disease
    Type III Glycogenosis - Glycogen storage disease (debranching enzyme amylo 1,6 glyosidase def, increased Glycogen)
  29. Creutzfeldt-Jakob
    Prion infection - cerebellar and cerebral degeneration
  30. Crigler-Najjar Syndrome
    • Congenital hyperbilirubinemia (unconjugated)
    • Glucuronyl transferase deficiency. Can progress to Kernicterus
    • Less severe form will respond to Phenobarbital therapy
  31. Crohn's
    • IBD; ileocecum, transmural, skip lesions, cobblestone, lymphocytic infiltrate, granulomas
    • (contrast to UC; limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, increased colon ca risk)
    • Clinically: ab pain and diarrhea; fever; malabsorption; fistulae b/t intestinal loops and abd strictures
  32. Curling's Ulcer
    Acute gastric ulcer associated w/ severe burns
  33. Cushing's
    • Disease: Hypercorticism 2 to increased ACTH from pituitary (basophilic adenoma)
    • Syndrome: hypercorticism of all other causes (1 adrenal or ectopic)
    • moon face, buffalo hump, purple striae, hirsutisim, HTN, hyperglycemia
  34. Cushing's Ulcer
    Acute gastric ulcer associated with CNS trauma
  35. de Quervain'sThyroiditis
    Self-limiting focal destruction (subacute thyroiditis)
  36. DiGeorge's Syndrome
    • Failure of 3rd and 4th pharyngeal pouches to form: thymus and parathyroid
    • Thymic hypoplasia - T-cell deficiency
    • Hypoparathyrodism - tetany
  37. Down's Syndrome
    Trisomy of 21 or transolcation - Simian crease
  38. Dressler's Syndrome
    Post-MI fibrinous pericarditis - autoimmune
  39. Dubin-Johnson Syndrome
    • Congenital hyperbilirubinemia (conjugated) = bilirubin transport is defected not conjugation
    • Striking brown-to-black discoloration of liver
  40. Duchenne Muscular Distrophy
    Difficiency of dystrophin protein - MD (X-linked recessive)
  41. Edwards' Syndrome
    • Trisomy 18
    • Rocker-bottom feet, low ears, small lower jaw, heart disease
  42. Ehler's-Danlos
    Defective collagen
  43. Eisenmenger's Complex
    Late cyanotic shunt (R --> L) pulmonary HTN & RHV secondary to long standing VSD, ASD or PDA
  44. Erb-Duchenne Palsy
    Trauma to superior trunk of brachial plexus - Waiter's Tip
  45. Ewing Sarcoma
    Malignant undifferentiated round cell tumor of bone in boys <15yo- t11;22
  46. Eyrthroplasia of Queyrat
    Carcinoma in situ on glans penis
  47. Fanconi's Syndrome
    Impaired proximal tubular reabsorption secondary to lead poisoning or Tetracycline )glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
  48. Felty's Syndrome
    Rheumatoid arthritis, neurtopenia, splenomegaly
  49. Gardner's Syndrome
    AD = adenomatous polyps of colon, osteomas and soft tissue tumors
  50. Gaucher's Disease
    • Lysosomal Storage Disease: glucocerbroside deficiency - glucocerebroside accumulation
    • Hepatosplenomegaly, femoral head and long bone erosion, anemia
  51. Gilbert's Syndrome
    Benign congenital hyperbilirubinemia (unconjugated) = decreased glycuronyl transferase act
  52. Glanzmann's Thrombasthenia
    Defective glycoproteins on platelets = deficient platelet aggregation
  53. Goodpasture's
    Autoimmune: ab's to glomerular and alveolar basement membranes. Seen in men in their 20's
  54. Grave's Disease
    Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptor. Low TSH & TRH - High T3/T4
  55. Guillain-Barre
    Polyneuritis following viral infection / autoimmune (ascending muscle weakness and paralysis; usually self limiting)
  56. Hamman-Rich Syndrome
    Idiopathic pulmonary fibrosis. Can see honey comb lung
  57. Hand-Schuller-Christian
    Chronic progressive histiocytosis
  58. Hashimoto's Thyroiditis
    Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3/T4 - High TSH
  59. Hashitoxicosis
    Initial hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism
  60. Henoch-Schonlein purpura
    • Hypersensitivity vasculitis = allergic purpura, Lesions have the same age
    • Hemorrhagic urticaria (with fever, arthalgias, GI and renal involvement)
    • Associated with URI
  61. Hirschprung's Disease
    Aganglionic megacolon
  62. Horner's Syndrome
    Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often secondary to Pancoast tumor)
  63. Huntington's (Chromosome 4)
    AD: progressive degeneration of caudate nucleus, putamen (striatum) and focal cortex. decreased 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
    • Defective neutrophilic chemotactic response = repeated infections
    • Commonly seen in light-skinned, red-haired girls
    • Increased IgE levels
  66. Kaposi Sarcoma
    Malignant vascular tumor (HHV8 in homosexual men)
  67. Kartagener's Syndrome
    Immotile cilia secondary 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 w/ signet-ring cell (typically originating from stomach) metastases to ovaries
  72. Laennec's Cirrhosis
    Alcoholic cirrhosis
  73. Lesch-Nyhan
    • HGPRT deficiency
    • Gout, retardation, self-mutilation
  74. Letterer-Siwe
    Acute disseminated Langerhans' cell histiocytosis
  75. Libman-Sacks
    • Endocarditis w/ small vegetations on valve leaflets
    • Associated w/ SLE
  76. Lou Gehrig's
    Amyotrophic Lateral Sclerosis - degeneration of upper and lower motor neurons
  77. Mallory-Weis Syndrome
    bleeding from esophagogastric lacerations secondary 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 phyophorylase deficiency = increased glycogen)
  80. Meckel's Diverticulum
    • Rule of 2's = 2 in long, 2 feet from ileocecum, in 2% of the population
    • 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 hypertropic gastritis (enlarged rugae; plasma protein loss)
  83. Monckeberg's Artheriosclerosis
    Calcification of media (usually radial and ulnar aa.)
  84. Munchausen Syndrome
    Factitious disorder (consciously create symptom, but does not know why)
  85. Nelson's Syndrome
    Primary Adrenal Cushings -- surgical removal of adrenals --> loss of negative feedback to pituitary --> Pituitary Adenoma
  86. Niemann-Pick
    • Lysosomal Storage Disease (sphingomyelinase deficiency - sphingomyelin accumulation)
    • "Foamy histiocytes"
  87. Osler-Weber-Rendu Syndrome
    Hereditary Hemorrhagic Telangiectasia - seen in 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
  91. Peutz-Jegher's Syndrome
    (AD) Melanin pigmentation of lips, mouth, hand, genitalia, and hamartomatous polyps of small intestine
  92. Peyronie's Disease
    Subcutaneous fibrosis of dorsum of penis
  93. Pick's Disease
    2 different diseases
    • - Progressive dementia similar to Alzheimer's
    • - Constrictive pericarditis - sequel to mediastinal tuberculosis
    • Calcium-frosting, unyielding layer - heart chambers may be unable to dilate to receive blood during diastole
  94. Plummer's Syndrome
    Hyperthyroidism, nodular goiter, absence of eye signs (Plummer's = Grave's - eye signs)
  95. Plummer-Vinson
    Esophageal webs & iron deficiency anemia, spoon-shaped nails, increased SCCA of esophagus
  96. Pompe's Disease
    Type II Glycogenosis - Glycogen Storage Disease --> Cardiomegaly (alpha 1,4 Glycoside deficiency: increased Glycogen)
  97. Pott's Disease
    Tuberculous osteomyelitis of the vertebrae
  98. Potter's Complex
    Renal agenesis --> oligohydramnios --> hypoplastic lungs, defects in extremities
  99. Raynaud's
    • Disease: recurrent vasospasm in extremities = seen in young healthy woman
    • Phenomenon: secondary to underlying disease (SLE or scleroderma)
  100. Reiter's Syndrome
    • Urethritis, Conjunctivits, Arthritis
    • non-infectious (but often follows infections), HLA-B27, polyarticular
  101. Reye's Syndrome
    • Microvesicular fatty liver change & encephalopathy
    • Secondary to aspirin ingestion in children following viral illness, especially VZV
  102. Riedel's Thyroiditis
    Idiopathic fibrous replacement of thyroid
  103. Rotor Syndrome
    • Congenital hyperbilirubinemia (conjugated)
    • Similar to Dubin-Johnson, but no discoloration of liver
  104. Sezary Syndrome
    Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
  105. Shaver's Disease
    Aluminum inhalation - lung fibrosis
  106. Sheehan's Syndrome
    Postpartum pituitary necrosis - hemorrhage and shock usually occurred during delivery
  107. Shy-Drager
    Parkinsonism w/ autonomic dysfunction and orthostatic hypotension
  108. Simmond's Disease
    Pituitary cachezia - can occur from either pituitary tumors or Sheehan's
  109. Sipple's Syndrome
    MEN type IIa - pheochromocytoma, thyroid medullary CA, hyperparathyroidism
  110. Sjogren's Syndrome
    • Triad: dry eyes, dry mouth, arthritis.
    • Increased risk of B-cell lymphoma
  111. Spitz Nevus
    Juvenile melanoma (always benign)
  112. Stein-Leventhal
    Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = increased LH secretion
  113. Stevens-Johnson Syndrome
    Erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection = mycoplasma or sulfa drugs)
  114. Still's Disease
    Juvenile rheumatoid arthritis (absence of rheumatoid factor)
  115. Takayasu's arthritis
    • Aortic arch syndrome
    • Loss of carotid, radial or ulnar pulse = pulseless disease. Night sweats
    • Common in young Asian females
  116. Tay-Sachs
    • (AR) Gangliosidosis (hexosaminidase A deficiency --> GM2 ganglioside)
    • Cherry red spots of the Macula
  117. Tetralogy of Fallot
    • VSD
    • Overriding Aorta
    • Pulmonary artery stenosis
    • Right ventricular hypertrophy
  118. Tourette's Syndrome
    • Involuntary actions, both motor and vocal
    • Tx w/ Pimozide
  119. Turcot's Syndrome
    Colon adenomatous polyps plus CNS tumors
  120. Turner's Syndrome
    45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear
  121. Vincent's Infection
    "Trench mouth" - acute necrotizing ulcerative gingivitis due to Fusobacterium
  122. Von Gierke's Disease
    Type I Glycogenosis - Glycogen storage disease (G6Ptase deficiency) - Glycogen accumulation
  123. Von Hippel-Lindau
    • Hemangioma (or hamangioblastoma) = cerebellum, brain stem and retina
    • Adenomas of the viscera, especially increased Renal Cell Carcinoma
    • Chromosome 3p
  124. Von Recklinghausen's
    Neurofibromatosis and cafe au lait spots and Lisch nodules (Chromosome 17)
  125. Von Recklinghausen's Disease of Bone
    Osteitis fibrosa cystica ("brown tumor") secondary to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement
  126. Von Willebrand's Disease
    (AD) Defect in platelet adhesion secondary to deficiency in vWF, increased aPPT and bleeding time
  127. Waldenstrom's macroglobinemia
    Proliferation of IgM producing lymphoid cells in men 50-70yo; PAS(+), Dutcher bodies
  128. Wallenberg's Syndrome
    • Posterior Inferior Cerebellar Artery (PICA) thrombosis - "Medullary Syndrome"
    • Ipsilateral: ataxia, facial pain & temp
    • Contralateral: body pain & temp
  129. Waterhouse-Friderichsen
    • Adrenal insufficiency secondary to DIC
    • DIC secondary to meningiococcemia
  130. Weber's Syndrome
    • Paramedian Infarct of Midbrain
    • Ipsilateral: Mydriasis
    • Contralateral: UMN, paralysis (lower face and body)
  131. Wegener's Granulomatosis
    Necrotizing granulomatous vasculitis of paranasal sinuses, lung, kidneys etc.
  132. Weil's Disease
    • Icteric Leptospirosis (non-icteric progress to renal failure and myocarditis)
    • Dark field microscopy for dx
  133. Wermer's Syndrome
    MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islet, pituitary
  134. Wernicke's Aphasia
    Sensory aphasia - impaired comprehension
  135. Wernicke - Korsakoff Syndrome
    Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) - confusion, ataxia, ophthalmoplegia)
  136. Whipple's Disease
    Malabsorption syndrome (w/ bacteria-laden macrophages) and polyarthritis
  137. Wilson's Disease
    • Hepatolenticular degeneration (copper accumulation [tx w/ Penicillamine] and decrease in ceruloplasmin)
    • Mallory Bodies in the Liver (and also with alcoholic hepatitis & Hyaline change)
    • Chromosome 13
  138. Wiskott-Aldrich Syndrome
    • Immunodifficiency: combined B and T cell deficiency (thrombocytopenia & eczema)
    • Decreased IgM w/ Increased IgA
  139. Wolff-Chaikoff Effect
    High iodine level (-)'s thyroid hormone synthesis
  140. Zenker's Diverticulum
    Esophageal; cricopharyngeal muscles above UES
  141. Zollinger-Ellison
    Gastrin-secreting tumor of pancreas (or intestine) --> increased acid --> recurrent ulcers
  142. Roger's Disease
    Interventricular septal defect
  143. Barlow's Syndrome
    Floppy vale syndrome - woman b/t 20-40 yo
  144. Bracht-Wachter Lesions
    Minute abscesses found in subacute bilateral endocarditis
  145. Lutembacher's Syndrome
    Combination of septum secundum atrial septal defect w/ mitral stenosis
  146. Schmidt's Syndrome
    Autoimmune thyroid disease (Hashimoto's) and insulin-dependent diabetes