pathology

Question 1

trinucleotide-repeat mutations

Answer 1

🔹Huntington’s disease (CAG)
🔹myotonic dystrophy (CTG)
🔹friedreich’s ataxia (GAA)
🔹fragile x syndrome (CGG)

Question 2

cardiac tamponade:

beck’s triad

Answer 2

🔹neck vein engorgement
🔹muffled heart sound
🔹hypotension

Question 3

x-linked dominant disorders

Answer 3

🔹vitamin D- resistant (hypophosphatemic) rickets

🔹alport syndrome

Question 4

differentiate marfan’s syndrome from ehlers-danlos syndrome:

Answer 4

marfan’s: (+) ectopic lentis and MVP, aortic dissection

Question 5

triad of TB

Answer 5

🔹fever
🔹night sweats
🔹hemoptysis

Question 6

x-linked recessive diseases

Answer 6

Bruton's agammaglobulinemia
Wiskott-Aldrich syndrome
Fabry's disease
G6PD deficiency
Ocular albinism
Lesch-Nyhan syndrome
Duchenne's muscular dystrophy
Hunter syndrome
Hemophilia

Question 7

quadruple screen for Down syndrome

Answer 7

ACE i

⬇️ AFP, estriol
⬆️ bHCG, inhibin

Question 8

DiGeorge Syndrome

Answer 8

CATCH-22

Cardiac defects
Abnormal facies 
Thymic aplasia
Cleft palate
Hypocalcemia
22q11.2 deletion

Question 9

primary inhibito

Answer 9

CNS - GABA

PNS - Glycine

Question 10

wernicke encephalopathy

Answer 10

🔹ataxia
🔹confusion
🔹ophthalmoplegia

Question 11

korsakoff syndrome

Answer 11

🔹confabulation
🔹hallucinations
🔹amnesia

Question 12

embryologic remnant of umbilical arteries

Answer 12

mediaL umbilical ligament

Question 13

embryologic remnant of umbilical vein

Answer 13

ligamentum teres hepatis

Question 14

MEN I

Answer 14

3 Ps

pituitary lesions
parathyroid lesions
pancreas lesions

Question 15

triad of pituitary apoplexy

Answer 15

🔹headache
🔹diplopia
🔹hypopituitarism

Question 16

type I diabetes auto-antibodies

Answer 16

anti-insuli
anti-GAD
anti-ICA512

Question 17

pheochromocytoma rule of 10s

Answer 17

10% extra-adrenal 
10% bilateral
10% biologically malignant
10% not associated with hypertension
10-25% harbor a germline mutation

Question 18

3 anatomic constrictions of the ureter

Answer 18

🔹ureteropelvic junction
🔹ureterovesical junction
🔹where they cross the iliac vessels

Question 19

rescue therapy:
methotrexate?
cyclophosphamide?
doxorubicin?
cisplatin?

Answer 19

leucovorin (folinic acid)
mesna
dexrazoxane
amifostine

Question 20

reiter syndrome

Answer 20

can’t pee - urethritis
can’t see - conjunctivitis
can’t climb a tree - arthritis

Question 21

MELAS Syndrome

Answer 21

Mitochondrial Encephalopathy
Lactic Acidosis
Stroke-like episodes

Question 22

only indications for giving ASA to children

Answer 22

kawasaki disease
juvenile rheumatoid arthritis
rheumatic fever

Question 23

whipple’s disease triad

Answer 23

diarrhea
malabsorption
weight loss

Question 24

hepatopulmonary syndrome triad

Answer 24

chronic liver disease
hypoxemia
intra-pulmonary vascular dilations

Question 25

hemochromatosis triad

Answer 25

hepatomegaly
diabetes mellitus
bronze skin pigmentation

Question 26

risk factors for acute pancreatitis

Answer 26

GET SMASHED

gallstones
ethanol
trauma
steroids
mumps
autoimmune (PAN)
scorpion sting 
hyperlipidemia/ hypercalcemia
ERCP
drugs (sulfa drugs)

Question 27

Virchow’s triad

Answer 27

🔹endothelial injury
🔹hypercoagulability
🔹abnormal blood flow