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USMLE Step 1 > Diseases > Flashcards

Diseases Flashcards

1
Q

Addison’s Disease

A

Primary adrenocortical deficiency

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2
Q

Addisonian Anemia

A

Pernicious anemia (antibodies to intrinsic factor or parietal cells → ↓IF → ↓Vit B12 → megaloblastic anemia)

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3
Q

Albright’s Syndrome

A

Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls

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4
Q

Alport’s Syndrome

A

Hereditary nephritis with nerve deafness

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5
Q

Alzheimer’s

A

Progressive dementia

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6
Q

Argyll-Robertson Pupil

A
  • Loss of light reflex constriction (contralateral or bilateral)
  • “Prostitute’s Eye” - accomodates but does not react
  • Pathognomonic for 3°Syphilis
  • Lesion pretectal region of superior colliculus
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7
Q

Arnold-Chiari Malformation

A

Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele

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8
Q

Barrett’s

A

Columnar metaplasia of lower esophagus (↑ risk of adenocarcinoma)- constant gastroesophageal reflux

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9
Q

Bartter’s Syndrome

A

Hyperreninemia

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10
Q

Becker’s Muscular Dystrophy

A

Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein

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11
Q

Bell’s Palsy

A

CN VII palsy (entire face; recall that UMN lesion only affects lower face)

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12
Q

Berger’s Disease

A

IgA nephropathy causing hematuria in kids, usually following infection

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13
Q

Bernard-Soulier Disease

A

Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)

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14
Q

Berry Aneurysm

A
  • Circle of Willis (subarachnoid bleed) Anterior Communicating artery
  • Often associated with ADPKD
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15
Q

Bowen’s Disease

A

Carcinoma in situ on shaft of penis (↑ risk of visceral ca) [compare w/ Queyrat]

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16
Q

Brill-Zinsser Disease

A

Recurrences of rickettsia prowazaki up to 50 years later

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17
Q

Briquet’s Syndrome

A
  • Somatization disorder

- Psychological: multiple physical complaints without physical pathology

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18
Q

Broca’s Aphasia

A

Motor Aphasia (area 44 & 45) intact comprehension

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19
Q

Brown-Sequard

A

Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsilateral loss of conscious propioception)

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20
Q

Bruton’s Disease

A

X-linked agammaglobinemia (↓ B cells)

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21
Q

Budd-Chiari

A

Post-hepatic venous thrombosis = abdominal pain; hepatomegaly; ascites; portal HTN; liver failure

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22
Q

Buerger’s Disease

A
  • Acute inflammation of medium and small arteries of extremities → painful ischemia → gangrene
  • Seen almost exclusively in young and middle-aged men who smoke
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23
Q

Burkitt’s Lymphoma

A
  • Small noncleaved cell lymphoma - EBV
  • 8:14 translocation
  • Seen commonly in jaws, abdomen, retroperitoneal soft tissues
  • Starry sky appearance
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24
Q

Caisson Disease

A

Nitric gas emboli

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25
Q

Chagas’ Disease

A

Trypanosoma infection - cardiomegaly with atypical atrophy, achalasia

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26
Q

Chediak-Higashi Disease

A
  • (AR) Phagocyte Deficiency = defect in microtubule polymerization
  • Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph
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27
Q

Conn’s Syndrome

A

Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ↓ renin

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28
Q

Cori’s Disease

A

Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. ↑ Glycogen)

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29
Q

Creutzfeldt-Jakob

A

Prion infection → cerebellar & cerebral degeneration

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30
Q

Crigler-Najjar Syndrome

A
  • Congenital hyperbilirubinemia (unconjugated)
  • Glucuronyl transferase deficiency. Can progress to Kernicterus
  • Less severe form will respond to Phenobarbital therapy
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31
Q

Crohn’s

A
  • IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
  • (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ↑ colon cancer risk)
  • Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures
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32
Q

Curlin’s Ulcer

A

Acute gastric ulcer associated with severe burns

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33
Q

Cushing’s

A
  • Disease: Hypercorticism 2° to ↑ ACTH from pituitary (basophilic adenoma)
  • Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
  • moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia
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34
Q

Cushing’s Ulcer

A

Acute gastric ulcer associated with CNS trauma

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35
Q

de Quervain’s Thyroiditis

A

Self-limiting focal destruction (subacute thryoiditis)

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36
Q

DiGeorge’s Syndrome

A
  • Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
  • Thymic hypoplasia → T-cell deficiency
  • Hypoparathyroidism → Tetany
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37
Q

Down’s Syndrome

A

Trisomy 21 or translocation - Simian Crease

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38
Q

Dressler’s Syndrome

A

Post-MI Fibrinous Pericarditis (autoimmune)

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39
Q

Dubin-Johnson Syndrome

A
  • Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
  • Striking brown-to-black discoloration of the liver
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40
Q

Duchenne Muscular Dystrophy

A

Deficiency of dystrophin protein → MD (X-linked recessive)

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41
Q

Edwards’ Syndrome

A
  • Trisomy 18

- Rocker-bottom feet, low ears, small lower jaw, heart disease

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42
Q

Ehler’s-Danlos

A

Defective collagen

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43
Q

Eisenmenger’s Complex

A

Late cyanotic shunt (R→L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA

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44
Q

Erb-Duchenne Palsy

A

Trauma to superior trunk of brachial plexus - Waiter’s Tip

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45
Q

Ewing Sarcoma

A

Malignant undifferentiated round cell tumor of bone in boys <15 years of age - t11;22

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46
Q

Erythroplasia of Queyrat

A

Carcinoma in situ on glans penis

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47
Q

Fanconi’s Syndrome

A

Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria,
hyperphosphaturia, aminoaciduria, systemic acidosis)

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48
Q

Felty’s Syndrome

A

Rheumatoid arthritis, neutropenia, spelenomegaly

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49
Q

Gardner’s Syndrome

A

AD = adenomatous polyps of colon, osteomas & soft tissue tumors

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50
Q

Gaucher’s Disease

A
  • Lysosomal Storage Disease - glucocerebrosidase deficiency - glucocerebroside accumulation
  • Hepatosplenomegaly, femoral head & long bone erosion, anemia
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51
Q

Gilbert’s Syndrome

A

Benign congenital hyperbilirubinemia (unconjugated) = ↓d glucuronyl transferase activity

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52
Q

Glanzmann’s Thrombasthenia

A

Defective glycoproteins on platelets = deficient platelet aggregation

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53
Q

Goodpasture’s

A

Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s

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54
Q

Grave’s Disease

A

Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4

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55
Q

Guillain-Barre

A

Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)

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56
Q

Hamman-Rich Syndrome

A

Idiopathic pulmonary fibrosis. Can see honeycomb lung.

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57
Q

Hand-Schuller-Christian

A

Chronic progressive histiocytosis

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58
Q

Hashimoto’s Thyroiditis

A

Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH

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59
Q

Hashitoxicosis

A

Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

60
Q

Henoch-Schonlein purpura

A
  • Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
  • Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
  • Associated with upper respiratory infections
61
Q

Hirschprung’s Disease

A

Aganglionic megacolon

62
Q

Horner’s Syndrome

A

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

63
Q

Huntington’s (Chromosome 4)

A

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

64
Q

Jacksonian Seizures

A

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

65
Q

Job’s Syndrome

A
  • Immune deficiency: neutrophils fail to respond to chemotactic stimuli
  • Defective neutrophilic chemotactic response = repeated infections
  • Commonly seen in light-skinned, red-haired girls
  • ↑’d IgE levels
66
Q

Kaposi Sarcoma

A

Malignant vascular tumor (HHV8 in homosexual men)

67
Q

Kartagener’s Syndrome

A

Immotile cilia secondary to defective dynein arms - infection, situs inversus, sterility

68
Q

Kawasaki Disease

A

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

69
Q

Kleinfelter’s Syndrome

A

47, XXY: Long arms, Sterile, Hypogonadism

70
Q

Kluver-Bucy

A

Bilateral lesions of amygdala (hypersexuality, oral behavior)

71
Q

Krukenberg Tumor

A

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

72
Q

Laennec’s Cirrhosis

A

Alcoholic cirrhosis

73
Q

Lesch-Nyhan

A
  • HGPRT deficiency

- Gout, retardation, self-mutilation

74
Q

Letterer-Siwe

A

Acute disseminated Langerhans’ cell histiocytosis

75
Q

Libman-Sacks

A
  • Endocarditis with small vegetations on valve leaflets

- Associated with SLE

76
Q

Lou Gehrig’s

A

Amyotrophic Lateral Sclerosis - degeneration of upper & lower motor neurons

77
Q

Mallory-Weis Syndrome

A

Bleeding from esophagogastric lacerations secondary to wretching (alcoholics)

78
Q

Marfan’s

A

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

79
Q

McArdle’s Disease

A

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

80
Q

Meckel’s Diverticulum

A
  • Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
  • Embryonic duct origin; may have ectopic tissue: gastric/pancreatic - remnant of vitteline duct/yolk stalk
81
Q

Meig’s Syndrome

A

Triad: ovarian fibroma, ascites, hydrothorax - associated with fibroma of ovaries

82
Q

Menetrier’s Disease

A

Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)

83
Q

Monckeberg’s Arteriosclerosis

A

Calcifaction of the media (usually radial & ulnar arteries)

84
Q

Munchausen Syndrome

A

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

85
Q

Nelson’s Syndrome

A

Primary Adrenal Cushing’s → surgical removal of adrenals → loss of negative feedback to pituitary → Pituitary Adenoma

86
Q

Niemann-Pick

A
  • Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
  • “Foamy histocytes”
87
Q

Osler-Weber-Rendu Syndrome

A

Heredetary Hemorrhagic Telangiectasia. Seen in the Mormons of Utah

88
Q

Paget’s Disease

A

Abnormal bone architecture (thickened, numerous fractures → pain)

89
Q

Pancoast Tumor

A

Bronchogenic tumor with superior sulcus involvement → Horner’s Syndrome

90
Q

Parkinson’s

A

Dopamine depletion in nigrostriatal tracts

91
Q

Peutz-Jegher’s Syndrome (AD)

A

Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine

92
Q

Peyronie’s Disease

A

Subcutaneous fibrosis of dorsum of penis

93
Q

Pick’s Disease - 2 Different Diseases

A
    1. Progressive dementia similar to Alzheimer’s
    1. Constrictive pericarditis - sequel to mediastinal tuberculosis
  • Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole
94
Q

Plummer’s Syndrome

A

Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye sign)

95
Q

Plummer-Vinson

A

Esophageal webs & iron-deficiency anemia, spoon-shaped nails, ↑ Squamous Cell CA of esophagus

96
Q

Pompe’s Disease

A

Type II Glycogenosis – Glycogen storage disease → cardiomegaly (α 1,4 Glucosidase deficiency: ↑ Glycogen)

97
Q

Pott’s Disease

A

Tuberculous osteomyelitis of the vertebrae

98
Q

Potter’s Complex

A

Renal agenesis → oligohydramnios → hypoplastic lungs, defects in extremities

99
Q

Reynaud’s

A
  • Disease: recurrent vasospasm in extremities - seen in young, healthy women
  • Phenomenon: secondary to underlying disease (SLE or scleroderma)
100
Q

Reiter’s Syndrome

A

Urethritis, conjunctivitis, arthritis - non-infectious (but often follows infections), HLA-B27, polyarticular

101
Q

Reye’s Syndrome

A
  • Microvesicular fatty liver change & encephalopathy

- Secondary to aspirin ingestion in children following viral illness, especially VZV

102
Q

Riedel’s Thyroiditis

A

Idiopathic fibrous replacement of thyroid

103
Q

Rotor Syndrome

A
  • Congenital hyperbilirubinemia (conjugated)

- Similar to Dubin-Johnson, but no discoloration of the liver

104
Q

Sezary Syndrome

A

Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)

105
Q

Shaver’s Disease

A

Aluminum inhalation → lung fibrosis

106
Q

Sheehan’s Syndrome

A

Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery

107
Q

Shy-Drager

A

Parkinsonism with autonomic dysfunction & orthostatic hypertension

108
Q

Simmond’s Disease

A

Pituitary cachexia - can occur from either pituitary tumors or Sheehan’s

109
Q

Sipple’s Syndrome

A

MEN type IIa = pheocromocytoma, thyroid medullary CA, hyperparathyroidism

110
Q

Sjogren’s Syndrome

A

Triad: dry eyes, dry mouth, arthritis - ↑ risk of B-cell lymphoma

111
Q

Spitz Nevus

A

Juvenile melanoma (always benign)

112
Q

Stein-Levanthal

A

Polycystic ovary: amenorrhea, infertility, obesity, hirsutism (↑↑LH secretion)

113
Q

Stevens-Johnson Syndrome

A

Erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection = mycoplasma or sulfa drugs)

114
Q

Still’s Disease

A

Juvenile rheumatoid arthritis (absence of rheumatoid factor)

115
Q

Takayasu’s Arteritis

A
  • Aortic arch syndrome
  • Loss of carotid, radial, or ulnar pulses = pulseless disease. Night sweats.
  • Common in young Asian females
116
Q

Tay-Sachs (AR)

A

Gangliosidosis (hexosaminidase A deficiency → GM2 ganglioside) Cherry Red Spots of the Macula

117
Q

Tetrology of Fallot

A

VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy

118
Q

Tourette’s Syndrome

A

Involuntary actions, both motor and vocal (treat with Pimazide)

119
Q

Turcot’s Syndrome

A

Colon adenomatous polyps plus CNS tumors

120
Q

Turner’s Syndrome

A

45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.

121
Q

Vincent’s Infection

A

“Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium

122
Q

Von Gierke’s Disease

A

Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton

123
Q

Von Hippel-Lindau

A
  • Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
  • Adenomas of the viscera, especially ↑ Renal Cell Carcinoma
  • Chromosome 3p
124
Q

Von Recklinhausen’s

A

Neurofibromatosis & cafe au lait spots & Lisch nodules (Chromasome 17)

125
Q

Von Recklinhausen’s Disease of Bone

A
  • Osteitis fibrosa cystica (“brown tumor”) secondary to hyperparathyroidism = osteoclastic resorption with fibrous replacement
126
Q

Von Willebrand’s Disease (AD)

A

Defect in platelet adhesion secondary to deficiency in vWF. ↑aPPT, ↑ Bleed time

127
Q

Waldenstrom’s Macroglobinemia

A

Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies

128
Q

Wallenberg’s Syndrome

A
  • Posterior Inferior Cerebellar Artery (PICA) thrombosis - “Medullary Syndrome”
  • Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
129
Q

Waterhouse-Friderichsen

A
  • Adrenal insufficiency secondary to DIC

- DIC secondary to meningiococcemia

130
Q

Weber’s Syndrome

A
  • Paramedian infarct of midbrain

- Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

131
Q

Wegener’s Granulomatosis

A

Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.

132
Q

Weil’s Disease

A
  • Icteric Leptospirosis (non-icteric progresses to renal failure & myocarditis)
  • Dark field microscopy for diagnosis
133
Q

Wermer’s Syndrome

A

MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary

134
Q

Wernicke’s Aphasia

A

Sensory Aphasia - impaired comprehension

135
Q

Wernicke-Korsakoff Syndrome

A

Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia,
ophthalmoplegia)

136
Q

Whipple’s Disease

A

Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis

137
Q

Wilson’s Disease

A
  • Hepatolenticular degeneration (copper accumulation [treat with Penicillamine] & decrease in ceruloplasmin)
  • Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
  • Chromosome 13
138
Q

Wiskott-Aldrich Syndrome

A
  • Immunodeficiency: combined B- & T-cell deficiency (thrombocytopenia & eczema)
  • ↓ IgM w/ ↑ IgA
139
Q

Wolff-Chaikoff Effect

A

High iodine level (−)’s thyroid hormone synthesis

140
Q

Zenker’s Diverticulum

A

Esophageal; cricopharyngeal muscles above UES

141
Q

Zollinger-Ellison

A

Gastrin-secreting tumor of pancreas (or intestine) → ↑ acid → recurrent ulcers

142
Q

Roger’s Disease

A

Interventricular septal defect

143
Q

Barlow’s Syndrome

A

Mitral valve prolapse syndrome - women between 20-40 years of age

144
Q

Bracht-Wachter Lesions

A

Minute abscesses found in subacute bacterial endocarditis

145
Q

Lutembacher’s Syndrome

A

Combination of septum secundum atrial septal defect with mitral stenosis

146
Q

Schmidt’s Syndrome

A

Autoimmune thyroid disease (Hashimoto’s) & insulin-dependent diabetes

USMLE Step 1 (9 decks)

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