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PANCE REVIEW > 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 –> low IF –> low vit B12 –> megaloblastic anemia)

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3
Q

Albright’s Syndrome

A

polyostotic fibrous dysplasia, precocious puberty, cafe au lait spots, short stature, young girls

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4
Q

Alport’s Syndrome

A

hereditary nephritis w/ 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 (contra or bilateral); “prostitute’s eye” (accommodates but not react); pathognomonic for tertiary syphilis; lesions pretectal region of superior colliculus

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7
Q

Arnold-Chiari Malformation

A

cerebellar tonsil herniation through foramen magnum

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8
Q

Barrett’s Esophagus

A

columnar metaplasia of lower esophagus; increased risk of adenocarcinoma; GERD

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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 deficiency, in dystrophin protein)

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11
Q

Bell’s Palsy

A

CN VII palsy

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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 w/ ADPKD

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15
Q

Bowen’s Disease

A

carcinoma in situ on shaft of penis (inc. risk of visceral CA)

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16
Q

Brill-Zinsser Disease

A

recurrences of rickettsia prowazaki up to 50 yrs later

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17
Q

Briquet’s Syndrome

A

somatization disorder; multiple physical complaints w/out 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 proprioception

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20
Q

Bruton’s Disease

A

X-linked agammaglobinemia (decrease B cells)

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21
Q

Budd-Chiari

A

post-hepatic venous thrombosis = abd pain, hepatomegaly, ascites, portal HTN, liver failure

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22
Q

Buerger’s Disease

A

acute inflammation of medium & small arteries of extremities –> painful ischemia –> gangrene; young / middle age men who smoke

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23
Q

Burkitt’s Lymphoma

A

small noncleaved cell lymphoma; 8:14 translocation; common in jaws, abd, 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

trypansoma infection; cardiomegaly w/ apical atrophy, achlasia

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26
Q

Chediak-Higashi Disease

A

phagocyte deficiency = defect in microtubule polymerization; neutropenia, albinism, cranial & peripheral neuropathy; repeated infxn w/ strep & staph

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27
Q

Conn’s Syndrome

A

Primary Aldosteronism: HTN, retain Na & H20; hypokalemia (causing alkalosis); dec renin

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28
Q

Cori’s Disease

A

Type III Glycogenosis - glycogen storage disease

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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 responds to Phenobarbital

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31
Q

Crohn’s

A

IBD; transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas; abd pain, D, fever, malabsorption, fistulaes

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32
Q

Curling’s Ulcer

A

acute gastric ulcer associated w/ severe burns

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33
Q

Cushing’s Disease

A

hypercorticism due to inc. ACTH from pituitary (basophilic adenoma); moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia

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34
Q

Cushing’s Syndrome

A

hypercorticism of all other causes (adrenal or ectopic); moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia

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35
Q

Cushing’s Ulcer

A

acute gastric ulcer associated w/ CNS trauma

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36
Q

de Quervain’s Thyroiditis

A

self-limiting focal destruction (subacute thyroiditis)

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37
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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38
Q

Down’s Syndrome

A

Trisomy 21 or translocation; simian crease

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39
Q

Dressler’s Syndrome

A

post-MI fibrinous pericarditis (autoimmune)

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40
Q

Dubin-Johnson Syndrome

A

congenital hyperbilirubinemia (conjugated) - bilirubin transport is defective; striking brown-to-black discoloration of liver

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41
Q

Duchenne Muscular Dystrophy

A

deficiency of dystrophin protein –> MD; X-linked recessive

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42
Q

Edward’s Syndrome

A

Trisomy 18; rocker-bottom feet, low ears, small lower jaw, heart dz

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43
Q

Ehler’s Danlos

A

defective collagen

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44
Q

Eisenmenger’s Complex

A

late cyanotic shunt ( R –> L )

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45
Q

Erb-Duchenne Palsy

A

trauma to superior trunk of brachial plexus; “waiter’s tip”

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46
Q

Ewing Sarcoma

A

malignant undifferentiated round cell tumor of bone in boys

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47
Q

Eyrthroplasia of Queyrat

A

carcinoma in situ on glans penis

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48
Q

Fanconi’s Syndrome

A

impaired proximal tubular reabsorption due to lead poisoning or tetracycline

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49
Q

Felty’s Syndrome

A

rheumatoid arthritis, neutropenia, splenomegaly

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50
Q

Gardner’s Syndrome

A

adenomatous polyps of colon, osteomas & soft tissue tumors

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51
Q

Gaucher’s Disease

A

lysosomal storage disease; HSM, femoral head & long bone erosion, anemia

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52
Q

Gilbert’s Syndrome

A

benign congenital hyperbilirubinemia (unconjugated) = dec. glucuronyl transferase activity

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53
Q

Glanzmann’s Thrombasthenia

A

defective glycoproteins on platelets = deficient platelet aggregation

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54
Q

Goodpasture’s

A

autoimmune; antibodies to glomerular & alveolar basement membranes; men in 20’s

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55
Q

Grave’s Disease

A

autoimmune hyperthyroidism; IgG Ab reactive w/ TSH receptors; low TSH &TRH - high T3/T4

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56
Q

Guillain-Barre

A

polyneuritis following viral infection / autoimmune; ascending muscle weakness & paralysis

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57
Q

Hamman-Rich Syndrome

A

idiopathic pulmonary fibrosis; honey-combing lung

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58
Q

Hand-Schuller-Christian

A

chronic progressive histiocytosis

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59
Q

Hashimoto’s Thyroiditis

A

autoimmune hypothyroidism; may have transient hyperthyroidism; low T3/T4 & high TSH

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60
Q

Hashitoxicosis

A

initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

61
Q

Henoch-Schonlein Purpura

A

hypersensitivity vasculitis = allergic purpura; hemorrhagic urticaria w/ fever, arthralgias, GI & renal involvement; associated w/ URI

62
Q

Hirschprung’s Disease

A

aganglionic megacolon

63
Q

Horner’s Syndrome

A

ptosis, miosis, anhidrosis

64
Q

Huntington’s (Chromosome 4)

A

progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex; dec. GABA

65
Q

Jacksonian Seizures

A

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

66
Q

Job’s Syndrome

A

immune deficiency: neutrophils fail to respond to chemotactic stimuli; defective neutrophilic chemotactic response = repeated infxns; light-skinned, red-haired girls; inc. IgE levels

67
Q

Kaposi Sarcoma

A

malignant vascular tumor

68
Q

Kartagener’s Syndrome

A

immotile cilia due to defective dynein arms; infection, situs inversus, sterility

69
Q

Kawasaki Disease

A

mucocutaneous lymph node syndrome in kids; acute necrotizing vasculitis of lips & oral mucosa

70
Q

Klinefelter’s Syndrome

A

47, XXY; long arms, sterile, hypogonadism

71
Q

Kluver-Bucy

A

bilateral lesions of amygdala; hypersexuality, oral behavior

72
Q

Krukenberg Tumor

A

adenocarcinoma w/ signet-ring cells (typically originating from stomach) metastases to the ovaries

73
Q

Laennec’s Cirrhosis

A

alcoholic cirrhosis

74
Q

Lesch-Nyhan

A

HGPRT deficiency; gout, retardation, self-mutilation

75
Q

Letterer-Siwe

A

acute disseminated Langerhans’ cell histiocytosis

76
Q

Libman-Sacks

A

endocarditis w/ small vegetations on valve leaflets; associated w/ SLE

77
Q

Lou Gehrig’s

A

Amyotrophic Lateral Sclerosis; degeneration of upper & lower motor neurons

78
Q

Mallory-Weis Syndrome

A

bleeding from esophagogastric lacerations that occur due to wretching; common in alcoholics

79
Q

Marfan’s

A

connective tissue defect; defective Fibrillin gene; dissecting aortic aneurysm, subluxation of lenses

80
Q

McArdle’s Disease

A

Type V Glycogenosis; glycogen storage disease (muscle phosphorylase deficiency = inc. glycogen)

81
Q

Meckel’s Diverticulum

A

“rule of 2’s” - 2 inches long, 2 ft from ileocecum, in 2% of population; embryonic duct origin; may have ectopic tissue: gastric / pancreatic

82
Q

Meig’s Syndrome

A

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

83
Q

Menetrier’s Disease

A

giant hypertrophic gastritis; enlarged rugae, plasma protein loss

84
Q

Monckeberg’s Arteriosclerosis

A

calcification of the media (usually radial & ulnar artery)

85
Q

Munchausen Syndrome

A

factitious disorder

86
Q

Nelson’s Syndrome

A

Adrenal Cushings –> surgical removal of adrenals –> loss of negative feedback to pituitary –> Pituitary Adenoma

87
Q

Niemann-Pick

A

lysosomal storage disease; “foamy histiocytes”

88
Q

Osler-Weber-Rendu Syndrome

A

Hereditary Hemorrhagic Telangiectasia; seen in Morman’s of Utah

89
Q

Paget’s Disease

A

abnormal bone architecture; thickened, numerous fractures –> pain

90
Q

Pancoast Tumor

A

bronchogenic tumor w/ superior sulcus involvement –> Horner’s Syndrome

91
Q

Parkinson’s

A

dopamine depletion in nigrostriatal tracts

92
Q

Peutz-Jegher’s Syndrome

A

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

93
Q

Peyronie’s Disease

A

subcutaneous fibrosis of dorsum of penis

94
Q

Pick’s Disease* - two dz states

A
  1. progressive dementia similar to Alzheimer’s 2. constrictive pericarditis; sequel to mediastinal tuberculosis; calcium-frosting, unyielding layer; heart chambers may be unable to dilate to receive blood during diastole
95
Q

Plummer’s Syndrome

A

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

96
Q

Plummer-Vinson

A

esophageal webs & iron-deficiency anemia; spoon-shaped nails; inc SCCA of esophagus

97
Q

Pompe’s Disease

A

Type II Glycogenosis - glycogen storage disease –> cardiomegaly

98
Q

Pott’s Disease

A

tuberculous osteomyelitis of the vertebrae

99
Q

Potter’s Complex

A

renal agenesis –> oligohydramnios –> hypoplastic lungs, defects in extremities

100
Q

Raynaud’s Disease

A

recurrent vasospasm in extremities; seen in young, healthy women

101
Q

Raynaud’s Phenomenon

A

Raynaud’s that develops due to underlying disease ( SLE or scleroderma )

102
Q

Reiter’s Syndrome

A

urethritis, conjunctivitis, arthritis; HLA-B27, non-infectious (but often follows infxn)

103
Q

Reye’s Syndrome

A

microvesicular fatty liver change & encephalopathy; develops due to ASA ingestion in children s/p viral illness, especially VZV

104
Q

Riedel’s Thyroiditis

A

idiopathic fibrous replacement of thyroid

105
Q

Rotor Syndrome

A

congenital hyperbilirubinemia (conjugated); similar to Dubin-Johnson, but no discoloration of the liver

106
Q

Sezary Syndrome

A

leukemic form of cutaneous T-cell lymphoma

107
Q

Shaver’s Disease

A

aluminum inhalation –> lung fibrosis

108
Q

Sheehan’s Syndrome

A

postpartum pituitary necrosis = hemorrhage & shock usually occurred during pregnancy

109
Q

Shy-Drager

A

Parkinsonism w/ autonomic dysfxn & orthostatic hypotension

110
Q

Simmond’s Disease

A

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

111
Q

Sipple’s Syndrome

A

MEN Type IIA = pheo, thyroid medullary CA, hyperparathyroidism

112
Q

Sjogren’s Syndrome

A

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

113
Q

Spitz Nevus

A

juvenile melanoma (always benign)

114
Q

Stein-Leventhal

A

polycystic ovary; amenorrhea, infertility, obesity, hirsutism; increased LH secretion

115
Q

Stevens-Johnson Syndrome

A

erythema multiforme, fever, malaise, mucosal ulceration; often occurs s/p infxn - mycoplasma or sulfa drugs

116
Q

Still’s Disease

A

juvenile rheumatoid arthritis (absence of rheumatoid factor)

117
Q

Takayasu’s Arteritis

A

Aortic Arch Syndrome; loss of carotid, radial or ulnar pulses = pulseless disease; night sweats; common in young, asian females

118
Q

Tay-Sachs

A

gangliosidosis; cherry red spots of the macula

119
Q

Tetralogy of Fallot

A
  1. VSD
  2. overriding aorta
  3. pulmonary artery stenosis
  4. right ventricular hypertrophy
120
Q

Tourette’s Syndrome

A

involuntary actions, both motor & vocal; tx w/ Pimozide

121
Q

Turcot’s Syndrome

A

colon adenomatous polyps + CNS tumors

122
Q

Turner’s Syndrome

A

45, XO = most common cause of primary amenorrhea; no barr body on buccal smear

123
Q

Vincent’s Infection

A

“trench mouth” - acute necrotizing ulcerative gingivitis due to fusobacterium

124
Q

Von Gierke’s Disease

A

Type I Glycogenosis - glycogen storage disease (G6Ptase deficiency) - glycogen accumulation

125
Q

Von Hippel-Lindau

A

hemangioma (or hemangioblastoma) = cerebellum, brain stem & retina; adenomas of the viscera, increased renal cell carcinoma; chromosome 3p

126
Q

Von Recklinghausen’s

A

neurofibromatosis + cafe au lait spots + Lisch nodules ( chromosome 17 )

127
Q

Von Recklinghausen’s Disease of Bone

A

osteitis fibrosa cystica (“brown tumor”) due to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement

128
Q

Von Willebrand’s Disease

A

defect in platelet adhesion due to deficiency in vWF; increase bleed time

129
Q

Waldenstrom’s Macroglobinemia

A

proliferation of IgM-producing lymphoid cells in men 50-70 yrs

130
Q

Wallenberg’s Syndrome

A

Posterior Inferior Cerebellar Artery (PICA) thrombosis; “medullary syndrome” - Ipsilateral: ataxia, facial pain & fever; Contralateral: body pain & fever

131
Q

Waterhouse-Friderichsen

A

adrenal insufficiency due to DIC; DIC due to meningiococcemia

132
Q

Weber’s Syndrome

A

paramedian infarct of midbrain - Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

133
Q

Wegener’s Granulomatosis

A

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

134
Q

Weil’s Disease

A

icteric leptospirosis; dark field microscopy for dx

135
Q

Wermer’s Syndrome

A

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

136
Q

Wenicke’s Aphasia

A

sensory aphasia; impaired comprehension

137
Q

Wernicke-Korsakoff Syndrome

A

thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nuclea)

138
Q

Whipple’s Disease

A

malabsorption syndrome (w/ bacteria-laden macrophages) & polyarthritis

139
Q

Wilson’s Disease

A

hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin); Mallory Bodies in the liver; chromosome 13

140
Q

Wiskott-Aldrich Syndrome

A

immunodeficiency: combined B-cell & T-cell deficiency (thrombocytopenia & eczema); dec. IgM w/ inc. IgA

141
Q

Wolff-Chaikoff Effect

A

high iodine level decreases thyroid hormone synthesis

142
Q

Zenker’s Diverticulum

A

esophageal; cricopharyngeal muscles above UES

143
Q

Zollinger-Ellison

A

gastrin-secreting tumor of pancreas (or intestine) –> inc acid –> recurrent ulcers

144
Q

Roger’s Disease

A

interventricular septal defect

145
Q

Barlow’s Syndrome

A

floppy valve syndrome; females btwn 20-40 yrs; MVP

146
Q

Bracht-Wachter Lesions

A

minute abscesses found in subacute bacterial endocarditis

147
Q

Lutembacher’s Syndrome

A

combination of septum secundum atrial septal defect w/ mitral stenosis

148
Q

Schmidt’s Syndrome

A

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

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