May 5th Flashcards

1
Q

Homocystenuria

A

Intelectual disaility
Marfanoid-like
Lens sublaxation (dislocation)
LIM

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2
Q

Neurofibromatosis 2

A

Memingiomas and bilateral schwannomas

Autosomal dominant

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3
Q

LDL receptor deficiency

A
AD
Xanthoma in achilles tendon
Arcus lipoides (opaque rings on edge of iris)
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4
Q

Pallegra

A
Niacin deficiency (3 Beefy Ds)
Dermatitis
Diarrhea
Dementia
Beffy glossitis
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5
Q

Crigler NAjjar syndrome

A

UDP-glucoronyosyltransferase Deficiency
AR
Jaudince, elevated unconjugated, kericterus

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6
Q

MArfans

A
Chormosome 15,
Aortic dilation -> regurge
Mitral valve prolapse 
Fibrillin
Dislocated lens
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7
Q

Introns sequence

A

Begin with 5’GU and end with AG3’

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8
Q

Cri-du-chat

A

Microcephaly
Vetnricular septal defect
Mewing cry
Chromosome 5 deletion

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9
Q

Wiskott Aldrich syndromeRecurrent infections

A

Thrombocytopenia (recurrent nose bleeds)
Purpura
Excimax

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10
Q

Edward’s syndrome

A
Malformed ears
Ocular hypertelorism
Syndactylyl
Congential heart issues
Trisomy 18
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11
Q

Gilberts syndrome

A

UDP glucorynyl transtrerase deficiecy

Random jaundice when fasting.

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12
Q

Secondary structure of proteins are held together by

A

Hydrogen bonds

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13
Q

Alkaptonuria

A

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

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14
Q

Primary carnithine deficiency

A

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

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15
Q

Transaminations are helped by

A

Pyridoxine (vitamin B6)

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16
Q

What degrades bilirubin into bilivedin

A

Heme oxygenase

Biliverdin reductase into unconjugated bilirubin

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17
Q

HPV can infect

A

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

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18
Q

No upper vagina

A

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

19
Q

Renal arteries come from aaorta at what level?

A

L1, seen in CT

20
Q

IVC originates from

A

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

21
Q

Aldosterone escape.

A

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

22
Q

Reticulocyte count after IM b12 administration

A

Peaks early.

Erythrocytes peak later.

23
Q

Pyruvate dehydrogenase deficiency needs supplementation of what?

A

Lysine and leucine (ketogenic).

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

24
Q

Anesthetic onset

A

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

25
Q

Myocplasma pneumoniae diagnosis

A
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.
26
Q

Produce aversion to smoking and nicotine withdrawal

A

Varenicline

27
Q

X linked agammaglobunemia (bruton)

A

Mutation of bruton tyrosine kinase.

No germinal center/B cells

28
Q

Heteroplasmy

A

Different cells contain different amounts of affected mitochondria

29
Q

Aspergillus fumigatus infection

A

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

30
Q

Paroxysmal breathlessness with no aspirin, infection, or exerise

A

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

31
Q

Larger than normal lung volume with breathing problems

A

Increased Residual volume (left over after expiration)

COPD Like emphysema/asthma.bronchiectasis.

32
Q

Homeobox genes

A

Encodde transcription factors

33
Q

Sucrose

A

Glucose and fructose

Watch out for in AR aldolase B deficiency

34
Q

Adenoma to carcinoma sequence

A

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)

35
Q

Methotrexate

A

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

36
Q

Tetanus

A

Exotoxin prevents inhibitory neurotransmitters (glycine, GABA)

37
Q

RAises circulating factor VIII

A

Desmopressin, also helps vWE secretion.

38
Q

Prevent acyclovir toxicity

A

Aggressive hydration

39
Q

lyme disease treatment

A

Doxycycline or penicillin-like (ceftriaxone)

40
Q

Super high, acute hypertensino vs low, chronic hypertension

A

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

41
Q

Can look like insuloma

A

Sulfonylurea medication

42
Q

Cardiac tamponade

A

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

43
Q

Varices and veins

A

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