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Flashcards in gold usmle: Diseases Deck (146)
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1

Addison’s Disease

Primary adrenocortical deficiency

2

Addisonian Anemia

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

3

Albright’s Syndrome

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

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)
7. “Prostitute’s Eye” – accommodates but does not react
8. Pathognomonic for 3°Syphilis
9. Lesion pretectal region of superior colliculus

7

Arnold-Chiari Malformation

Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele

8

Barrett’s

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

9

Bartter’s Syndrome

Bartter’s Syndrome

10

Becker’s Muscular Dystrophy

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

11

Bell’s Palsy

CNVII palsy (entire face; recall that UMN lesion only affects 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 & lack of platelet-surface glycoprotein)

14

Berry Aneurysm

Circle of Willis (subarachnoid bleed) Anterior Communicating artery
18. Often associated with ADPKD

15

Bowen’s Disease

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

16

Brill-Zinsser Disease

Recurrences of rickettsia prowazaki up to 50 yrs later

17

Briquet’s Syndrome

Somatization disorder
22. Psychological: multiple physical complaints without physical pathology

18

Broca’s Aphasia

Motor Aphasia (area 44 & 45) intact comprehension

Inferior Posterior Frontal Lobe

19

Brown-Sequard

Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)

20

Bruton’s Disease

X-linked agammaglobinemia (↓ B cells)

21

Budd-Chiari

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

22

Buerger’s Disease

Acute inflammation of medium and small arteries of extremities → painful ischemia → gangrene
28. Seen almost exclusively in young and middle-aged men who smoke.

23

Burkitt’s Lymphoma

Small noncleaved cell lymphoma EBV
30. 8:14 translocation
31. Seen commonly in jaws, abdomen, retroperitoneal soft tissues
32. 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
36. Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph

27

Conn’s Syndrome

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

28

Cori’s Disease

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

29

Creutzfeldt-Jakob

Prion infection → cerebellar & cerebral degeneration

30

Crigler-Najjar Syndrome

Congenital hyperbilirubinemia (unconjugated)
41. Glucuronyl transferase deficiency. Can progress to Kernicterus
42. Less severe form will respond to Phenobarbital therapy