DISEASES Flashcards
1
Q
Addison’s Disease
A
primary adrenocortical deficiency
2
Q
Addisonian Anemia
A
pernicious anemia (antibodies to intrinsic factor or parietal cells –> low IF –> low vit B12 –> megaloblastic anemia)
3
Q
Albright’s Syndrome
A
polyostotic fibrous dysplasia, precocious puberty, cafe au lait spots, short stature, young girls
4
Q
Alport’s Syndrome
A
hereditary nephritis w/ nerve deafness
5
Q
Alzheimer’s
A
progressive dementia
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
7
Q
Arnold-Chiari Malformation
A
cerebellar tonsil herniation through foramen magnum
8
Q
Barrett’s Esophagus
A
columnar metaplasia of lower esophagus; increased risk of adenocarcinoma; GERD
9
Q
Bartter’s Syndrome
A
hyperreninemia
10
Q
Becker’s Muscular Dystrophy
A
similar to Duchenne, but less severe (mutation, not deficiency, in dystrophin protein)
11
Q
Bell’s Palsy
A
CN VII palsy
12
Q
Berger’s Disease
A
IgA nephropathy causing hematuria in kids, usually following infection
13
Q
Bernard-Soulier Disease
A
defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
14
Q
Berry Aneurysm
A
Circle of Willis (subarachnoid bleed); Anterior Communicating Artery; often associated w/ ADPKD
15
Q
Bowen’s Disease
A
carcinoma in situ on shaft of penis (inc. risk of visceral CA)
16
Q
Brill-Zinsser Disease
A
recurrences of rickettsia prowazaki up to 50 yrs later
17
Q
Briquet’s Syndrome
A
somatization disorder; multiple physical complaints w/out physical pathology
18
Q
Broca’s Aphasia
A
motor aphasia (area 44 & 45); intact comprehension
19
Q
Brown-Sequard
A
hemisection of cord; contralateral loss of pain & temp; ipsilateral loss of fine touch, UMN ; ipsilateral loss of proprioception
20
Q
Bruton’s Disease
A
X-linked agammaglobinemia (decrease B cells)
21
Q
Budd-Chiari
A
post-hepatic venous thrombosis = abd pain, hepatomegaly, ascites, portal HTN, liver failure
22
Q
Buerger’s Disease
A
acute inflammation of medium & small arteries of extremities –> painful ischemia –> gangrene; young / middle age men who smoke
23
Q
Burkitt’s Lymphoma
A
small noncleaved cell lymphoma; 8:14 translocation; common in jaws, abd, retroperitoneal soft tissues; “starry sky appearance”
24
Q
Caisson Disease
A
nitric gas emboli
25
Chagas' Disease
trypansoma infection; cardiomegaly w/ apical atrophy, achlasia
26
Chediak-Higashi Disease
phagocyte deficiency = defect in microtubule polymerization; neutropenia, albinism, cranial & peripheral neuropathy; repeated infxn w/ strep & staph
27
Conn's Syndrome
Primary Aldosteronism: HTN, retain Na & H20; hypokalemia (causing alkalosis); dec renin
28
Cori's Disease
Type III Glycogenosis - glycogen storage disease
29
Creutzfeldt-Jakob
prion infection --> cerebellar & cerebral degeneration
30
Crigler-Najjar Syndrome
congenital hyperbilirubinemia (unconjugated); glucuronyl transferase deficiency; can progress to kernicterus; less severe form responds to Phenobarbital
31
Crohn's
IBD; transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas; abd pain, D, fever, malabsorption, fistulaes
32
Curling's Ulcer
acute gastric ulcer associated w/ severe burns
33
Cushing's Disease
hypercorticism due to inc. ACTH from pituitary (basophilic adenoma); moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia
34
Cushing's Syndrome
hypercorticism of all other causes (adrenal or ectopic); moon face, buffalo hump, purple striae, hirsutism, HTN, hyperglycemia
35
Cushing's Ulcer
acute gastric ulcer associated w/ CNS trauma
36
de Quervain's Thyroiditis
self-limiting focal destruction (subacute thyroiditis)
37
DiGeorge's Syndrome
failure of 3rd & 4th pharyngeal pouches formation: thymus & parathyroid; thymic hypoplasia --> T-cell deficiency; hypoparathyroidism --> tetany
38
Down's Syndrome
Trisomy 21 or translocation; simian crease
39
Dressler's Syndrome
post-MI fibrinous pericarditis (autoimmune)
40
Dubin-Johnson Syndrome
congenital hyperbilirubinemia (conjugated) - bilirubin transport is defective; striking brown-to-black discoloration of liver
41
Duchenne Muscular Dystrophy
deficiency of dystrophin protein --> MD; X-linked recessive
42
Edward's Syndrome
Trisomy 18; rocker-bottom feet, low ears, small lower jaw, heart dz
43
Ehler's Danlos
defective collagen
44
Eisenmenger's Complex
late cyanotic shunt ( R --> L )
45
Erb-Duchenne Palsy
trauma to superior trunk of brachial plexus; "waiter's tip"
46
Ewing Sarcoma
malignant undifferentiated round cell tumor of bone in boys
47
Eyrthroplasia of Queyrat
carcinoma in situ on glans penis
48
Fanconi's Syndrome
impaired proximal tubular reabsorption due to lead poisoning or tetracycline
49
Felty's Syndrome
rheumatoid arthritis, neutropenia, splenomegaly
50
Gardner's Syndrome
adenomatous polyps of colon, osteomas & soft tissue tumors
51
Gaucher's Disease
lysosomal storage disease; HSM, femoral head & long bone erosion, anemia
52
Gilbert's Syndrome
benign congenital hyperbilirubinemia (unconjugated) = dec. glucuronyl transferase activity
53
Glanzmann's Thrombasthenia
defective glycoproteins on platelets = deficient platelet aggregation
54
Goodpasture's
autoimmune; antibodies to glomerular & alveolar basement membranes; men in 20's
55
Grave's Disease
autoimmune hyperthyroidism; IgG Ab reactive w/ TSH receptors; low TSH &TRH - high T3/T4
56
Guillain-Barre
polyneuritis following viral infection / autoimmune; ascending muscle weakness & paralysis
57
Hamman-Rich Syndrome
idiopathic pulmonary fibrosis; honey-combing lung
58
Hand-Schuller-Christian
chronic progressive histiocytosis
59
Hashimoto's Thyroiditis
autoimmune hypothyroidism; may have transient hyperthyroidism; low T3/T4 & high TSH
60
Hashitoxicosis
initial hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism
61
Henoch-Schonlein Purpura
hypersensitivity vasculitis = allergic purpura; hemorrhagic urticaria w/ fever, arthralgias, GI & renal involvement; associated w/ URI
62
Hirschprung's Disease
aganglionic megacolon
63
Horner's Syndrome
ptosis, miosis, anhidrosis
64
Huntington's (Chromosome 4)
progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex; dec. GABA
65
Jacksonian Seizures
epileptic events originating in the primary motor cortex (area 4)
66
Job's Syndrome
immune deficiency: neutrophils fail to respond to chemotactic stimuli; defective neutrophilic chemotactic response = repeated infxns; light-skinned, red-haired girls; inc. IgE levels
67
Kaposi Sarcoma
malignant vascular tumor
68
Kartagener's Syndrome
immotile cilia due to defective dynein arms; infection, situs inversus, sterility
69
Kawasaki Disease
mucocutaneous lymph node syndrome in kids; acute necrotizing vasculitis of lips & oral mucosa
70
Klinefelter's Syndrome
47, XXY; long arms, sterile, hypogonadism
71
Kluver-Bucy
bilateral lesions of amygdala; hypersexuality, oral behavior
72
Krukenberg Tumor
adenocarcinoma w/ signet-ring cells (typically originating from stomach) metastases to the ovaries
73
Laennec's Cirrhosis
alcoholic cirrhosis
74
Lesch-Nyhan
HGPRT deficiency; gout, retardation, self-mutilation
75
Letterer-Siwe
acute disseminated Langerhans' cell histiocytosis
76
Libman-Sacks
endocarditis w/ small vegetations on valve leaflets; associated w/ SLE
77
Lou Gehrig's
Amyotrophic Lateral Sclerosis; degeneration of upper & lower motor neurons
78
Mallory-Weis Syndrome
bleeding from esophagogastric lacerations that occur due to wretching; common in alcoholics
79
Marfan's
connective tissue defect; defective Fibrillin gene; dissecting aortic aneurysm, subluxation of lenses
80
McArdle's Disease
Type V Glycogenosis; glycogen storage disease (muscle phosphorylase deficiency = inc. glycogen)
81
Meckel's Diverticulum
"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
Meig's Syndrome
Triad: ovarian fibroma, ascites, hydrothorax; associated w/ fibroma of ovaries
83
Menetrier's Disease
giant hypertrophic gastritis; enlarged rugae, plasma protein loss
84
Monckeberg's Arteriosclerosis
calcification of the media (usually radial & ulnar artery)
85
Munchausen Syndrome
factitious disorder
86
Nelson's Syndrome
Adrenal Cushings --> surgical removal of adrenals --> loss of negative feedback to pituitary --> Pituitary Adenoma
87
Niemann-Pick
lysosomal storage disease; "foamy histiocytes"
88
Osler-Weber-Rendu Syndrome
Hereditary Hemorrhagic Telangiectasia; seen in Morman's of Utah
89
Paget's Disease
abnormal bone architecture; thickened, numerous fractures --> pain
90
Pancoast Tumor
bronchogenic tumor w/ superior sulcus involvement --> Horner's Syndrome
91
Parkinson's
dopamine depletion in nigrostriatal tracts
92
Peutz-Jegher's Syndrome
melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
93
Peyronie's Disease
subcutaneous fibrosis of dorsum of penis
94
Pick's Disease* - two dz states
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
Plummer's Syndrome
hyperthyroidism, nodular goiter, absence of eye signs ( Plummer's = Grave's - eye signs )
96
Plummer-Vinson
esophageal webs & iron-deficiency anemia; spoon-shaped nails; inc SCCA of esophagus
97
Pompe's Disease
Type II Glycogenosis - glycogen storage disease --> cardiomegaly
98
Pott's Disease
tuberculous osteomyelitis of the vertebrae
99
Potter's Complex
renal agenesis --> oligohydramnios --> hypoplastic lungs, defects in extremities
100
Raynaud's Disease
recurrent vasospasm in extremities; seen in young, healthy women
101
Raynaud's Phenomenon
Raynaud's that develops due to underlying disease ( SLE or scleroderma )
102
Reiter's Syndrome
urethritis, conjunctivitis, arthritis; HLA-B27, non-infectious (but often follows infxn)
103
Reye's Syndrome
microvesicular fatty liver change & encephalopathy; develops due to ASA ingestion in children s/p viral illness, especially VZV
104
Riedel's Thyroiditis
idiopathic fibrous replacement of thyroid
105
Rotor Syndrome
congenital hyperbilirubinemia (conjugated); similar to Dubin-Johnson, but no discoloration of the liver
106
Sezary Syndrome
leukemic form of cutaneous T-cell lymphoma
107
Shaver's Disease
aluminum inhalation --> lung fibrosis
108
Sheehan's Syndrome
postpartum pituitary necrosis = hemorrhage & shock usually occurred during pregnancy
109
Shy-Drager
Parkinsonism w/ autonomic dysfxn & orthostatic hypotension
110
Simmond's Disease
pituitary cachexia - can occur from either pituitary tumors or Sheehan's
111
Sipple's Syndrome
MEN Type IIA = pheo, thyroid medullary CA, hyperparathyroidism
112
Sjogren's Syndrome
Triad: dry eyes, dry mouth, arthritis; increased risk of B-cell lymphoma
113
Spitz Nevus
juvenile melanoma (always benign)
114
Stein-Leventhal
polycystic ovary; amenorrhea, infertility, obesity, hirsutism; increased LH secretion
115
Stevens-Johnson Syndrome
erythema multiforme, fever, malaise, mucosal ulceration; often occurs s/p infxn - mycoplasma or sulfa drugs
116
Still's Disease
juvenile rheumatoid arthritis (absence of rheumatoid factor)
117
Takayasu's Arteritis
Aortic Arch Syndrome; loss of carotid, radial or ulnar pulses = pulseless disease; night sweats; common in young, asian females
118
Tay-Sachs
gangliosidosis; cherry red spots of the macula
119
Tetralogy of Fallot
1. VSD
2. overriding aorta
3. pulmonary artery stenosis
4. right ventricular hypertrophy
120
Tourette's Syndrome
involuntary actions, both motor & vocal; tx w/ Pimozide
121
Turcot's Syndrome
colon adenomatous polyps + CNS tumors
122
Turner's Syndrome
45, XO = most common cause of primary amenorrhea; no barr body on buccal smear
123
Vincent's Infection
"trench mouth" - acute necrotizing ulcerative gingivitis due to fusobacterium
124
Von Gierke's Disease
Type I Glycogenosis - glycogen storage disease (G6Ptase deficiency) - glycogen accumulation
125
Von Hippel-Lindau
hemangioma (or hemangioblastoma) = cerebellum, brain stem & retina; adenomas of the viscera, increased renal cell carcinoma; chromosome 3p
126
Von Recklinghausen's
neurofibromatosis + cafe au lait spots + Lisch nodules ( chromosome 17 )
127
Von Recklinghausen's Disease of Bone
osteitis fibrosa cystica ("brown tumor") due to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement
128
Von Willebrand's Disease
defect in platelet adhesion due to deficiency in vWF; increase bleed time
129
Waldenstrom's Macroglobinemia
proliferation of IgM-producing lymphoid cells in men 50-70 yrs
130
Wallenberg's Syndrome
Posterior Inferior Cerebellar Artery (PICA) thrombosis; "medullary syndrome" - Ipsilateral: ataxia, facial pain & fever; Contralateral: body pain & fever
131
Waterhouse-Friderichsen
adrenal insufficiency due to DIC; DIC due to meningiococcemia
132
Weber's Syndrome
paramedian infarct of midbrain - Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
133
Wegener's Granulomatosis
necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
134
Weil's Disease
icteric leptospirosis; dark field microscopy for dx
135
Wermer's Syndrome
MEN Type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
136
Wenicke's Aphasia
sensory aphasia; impaired comprehension
137
Wernicke-Korsakoff Syndrome
thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nuclea)
138
Whipple's Disease
malabsorption syndrome (w/ bacteria-laden macrophages) & polyarthritis
139
Wilson's Disease
hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin); Mallory Bodies in the liver; chromosome 13
140
Wiskott-Aldrich Syndrome
immunodeficiency: combined B-cell & T-cell deficiency (thrombocytopenia & eczema); dec. IgM w/ inc. IgA
141
Wolff-Chaikoff Effect
high iodine level decreases thyroid hormone synthesis
142
Zenker's Diverticulum
esophageal; cricopharyngeal muscles above UES
143
Zollinger-Ellison
gastrin-secreting tumor of pancreas (or intestine) --> inc acid --> recurrent ulcers
144
Roger's Disease
interventricular septal defect
145
Barlow's Syndrome
floppy valve syndrome; females btwn 20-40 yrs; MVP
146
Bracht-Wachter Lesions
minute abscesses found in subacute bacterial endocarditis
147
Lutembacher's Syndrome
combination of septum secundum atrial septal defect w/ mitral stenosis
148
Schmidt's Syndrome
autoimmune thyroid disease (Hashimoto's) & insulin-dependent diabetes
