May 5th

Question 1

Homocystenuria

Answer 1

Intelectual disaility
Marfanoid-like
Lens sublaxation (dislocation)
LIM

Question 2

Neurofibromatosis 2

Answer 2

Memingiomas and bilateral schwannomas

Autosomal dominant

Question 3

LDL receptor deficiency

Answer 3

AD
Xanthoma in achilles tendon
Arcus lipoides (opaque rings on edge of iris)

Question 4

Pallegra

Answer 4

Niacin deficiency (3 Beefy Ds)
Dermatitis
Diarrhea
Dementia
Beffy glossitis

Question 5

Crigler NAjjar syndrome

Answer 5

UDP-glucoronyosyltransferase Deficiency
AR
Jaudince, elevated unconjugated, kericterus

Question 6

MArfans

Answer 6

Chormosome 15,
Aortic dilation -> regurge
Mitral valve prolapse 
Fibrillin
Dislocated lens

Question 7

Introns sequence

Answer 7

Begin with 5’GU and end with AG3’

Question 8

Cri-du-chat

Answer 8

Microcephaly
Vetnricular septal defect
Mewing cry
Chromosome 5 deletion

Question 9

Wiskott Aldrich syndromeRecurrent infections

Answer 9

Thrombocytopenia (recurrent nose bleeds)
Purpura
Excimax

Question 10

Edward’s syndrome

Answer 10

Malformed ears
Ocular hypertelorism
Syndactylyl
Congential heart issues
Trisomy 18

Question 11

Gilberts syndrome

Answer 11

UDP glucorynyl transtrerase deficiecy

Random jaundice when fasting.

Question 12

Secondary structure of proteins are held together by

Answer 12

Hydrogen bonds

Question 13

Alkaptonuria

Answer 13

Homogentisic acid dioxygenase
AR
Tyrosine can’t be broken down. Hyperpigmentation AND urine turns black if allowed to sit.

Question 14

Primary carnithine deficiency

Answer 14

Myopathy
Cardiomyopathy (S3 gllop)
Hypoketotic hypoglycemia
Can’t make Acetyl CoA from fatty acid

Question 15

Transaminations are helped by

Answer 15

Pyridoxine (vitamin B6)

Question 16

What degrades bilirubin into bilivedin

Answer 16

Heme oxygenase

Biliverdin reductase into unconjugated bilirubin

Question 17

HPV can infect

Answer 17

True vocal cords. Respiratory epithelium is collumnar like cervix but doesnt have protective cilia

Question 18

No upper vagina

Answer 18

Normal female except for mullerian aplasia.
Kidney aplasia common
Uterus can be abscent or hypertrophied. No menstruation either way.

Question 19

Renal arteries come from aaorta at what level?

Answer 19

L1, seen in CT

Question 20

IVC originates from

Answer 20

Union of right and left common illiac veins. L4-L5

Question 21

Aldosterone escape.

Answer 21

In cases of hyeraldosteronism, renal blood flow increases causing sodium to be excreted. Hypokalemia and alkalosis happen but Na is normal.

Question 22

Reticulocyte count after IM b12 administration

Answer 22

Peaks early.

Erythrocytes peak later.

Question 23

Pyruvate dehydrogenase deficiency needs supplementation of what?

Answer 23

Lysine and leucine (ketogenic).

Can’t be metabolized to pyruvate so no lactic acidosis. Can promote TCA.

Question 24

Anesthetic onset

Answer 24

Slow if atriovenous concentration is large. High tissue solubility have high AV gradient (bc not much gets back through venous). Slow onset, need more.

Question 25

Myocplasma pneumoniae diagnosis

Answer 25

``` Cold agglutinins (cross reacting IgM increased). Hemolytic anemia (attack I antigen on blood cell) LDH, reticulcyte elevation and a positive Coombs test = sign of hemolyitic anemia. ```

Question 26

Produce aversion to smoking and nicotine withdrawal

Answer 26

Varenicline

Question 27

X linked agammaglobunemia (bruton)

Answer 27

Mutation of bruton tyrosine kinase. | No germinal center/B cells

Question 28

Heteroplasmy

Answer 28

Different cells contain different amounts of affected mitochondria

Question 29

Aspergillus fumigatus infection

Answer 29

45 degree angle branched hyphae. Commonly attack old cavities as fungus ball. (Asthma or previous tuberculosis) Immunocompromised

Question 30

Paroxysmal breathlessness with no aspirin, infection, or exerise

Answer 30

Extrinsic allergic astma Carchot-leyden cells (eosphiophilcrystaloid bodies) IL5 mediated via Th2 cells

Question 31

Larger than normal lung volume with breathing problems

Answer 31

Increased Residual volume (left over after expiration) | COPD Like emphysema/asthma.bronchiectasis.

Question 32

Homeobox genes

Answer 32

Encodde transcription factors

Question 33

Sucrose

Answer 33

Glucose and fructose | Watch out for in AR aldolase B deficiency

Question 34

Adenoma to carcinoma sequence

Answer 34

Colon. Normal to early adenoma (APC mutation, tumor sup) EArly adenoma to late adenoma (Kras mutation, proto-onco) late ademona to Malignant (P53 and DCC)

Question 35

Methotrexate

Answer 35

Inhibits Dihydrofolate reductase (prevents formation of THF from DHF and folic acid) DHF accumulation

Question 36

Tetanus

Answer 36

Exotoxin prevents inhibitory neurotransmitters (glycine, GABA)

Question 37

RAises circulating factor VIII

Answer 37

Desmopressin, also helps vWE secretion.

Question 38

Prevent acyclovir toxicity

Answer 38

Aggressive hydration

Question 39

lyme disease treatment

Answer 39

Doxycycline or penicillin-like (ceftriaxone)

Question 40

Super high, acute hypertensino vs low, chronic hypertension

Answer 40

Acute/high: hyperplastic (onion thickening via smooth muscle) Lower/chronic: acellular thickening (hYaline) in intema.

Question 41

Can look like insuloma

Answer 41

Sulfonylurea medication

Question 42

Cardiac tamponade

Answer 42

Hypotension with pulsus paradoxus (decrease in systolic/pulse on inspiration) Eleavated JVD Muffled heart sounds

Question 43

Varices and veins

Answer 43

Esophageal varice: left gastric vein if lower 1/3. Azygous if upper 2/3ds Hemmorrhoids: superio rectal vein Capud medussa: paraumbilical Fundic stomach: small gastric