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JFNG > 2014 - Final XLS in CSV form - Sheet1 > Flashcards

2014 - Final XLS in CSV form - Sheet1 Flashcards

1
Q

If the disease frequency for PKU is 1/10,000 what is the carrier frequency?

A

PKU is AR, q^2 = 1/10,000 so q = 1/100 and carrier frequency is 2pq = 2 * 1 * 1/100 = 1/50

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2
Q

Freq of an autosomal recessive disease is 1/6400, what is the carrier frequency?

A

q² = 1/6400
q = 1/80
2pq = 2 x 1/80 = 1/40

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3
Q

A woman has recurrent SABs, her karyotype reveals a balanced translocation. Phenotypic trisomy 21 will be present in what percentage of subsequent surviving pregnancies?

A

1/6 = 16.7% of all gametes

1/3 if only living child

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4
Q

What is the most common fetal anaomaly in obese patients?

A

Neural tube defects / Spina Bifida

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5
Q

Most likely diagnosis of echogenic bowel at 20 weeks?

A

Normal

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6
Q

What confers the worst neonatal prognosis in CMV?

A

Microcephaly

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7
Q

Patient with 8 week IUP has IUD in place, develops fever, chills, abdominal pain. What should you do next?

A
  1. Remove IUD, then evaluate for other causes of abdominal pain / fever and check for signs of septic abortion.
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8
Q

What is the most likely complication of pregnancy conceived with IUD in place?

A

SAB - 3x more likely (50%)

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9
Q

Which HIV drug should you avoid in first trimester?

A

Efavirenz due to concern for NTD

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10
Q

Which ashkenazi disease is treatable with enzyme replacement?

A

Gauchers

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11
Q 
Which of the following fetal cardiac anomaly is least likely to result in a critically ill newborn?
 TGA 
 HLHS 
 AVSD
 TOF w pulm atresia
A

AVSD

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12
Q

TTTS is best diagnosed with a discrepency in what ?

A

Amniotic fluid volumes

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13
Q

Which fetal anomaly has highest risk of malignancy?

A

CCAM (Pleuropulmonary blastoma and bronchoalveolar carcinoma )

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14
Q

Smoking is least likely associated with an incease in which pregnancy associated condition?

A

Preeclampsia

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15
Q

Which complication is not associated with SSRI use in pregnancy?

A

Gastroschisis

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16
Q

Which ultrasound finding in gastroschisis is most associated with intestinal atresia ?

A

Bowel dilation (>14mm strongly predicts atresia)

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17
Q

Which cells are the innate immune cells?

Which are the adaptive immune cells?

A

Innate: NK, Monocytes, macrophages, trophoblasts

Adaptive: B cells and T cells

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18
Q

What factors are most important in oxygen delivery to tissue?

A

CO x PaO2 (Oxygen delivery = CO x arterial oxygen content )

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19
Q

What does a class 1 MHC get attacked by?

A

Cytotoxic T cells

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20
Q

Very Low Estriol levels are most commonly associated with what?

A

Placental Sulfatase Deficiency, X linked icthyoses, SLOS

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21
Q

What is the treatment for NAIT?

A

IVIG

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22
Q

What is mode of inheritene of IHSS?

A

Hypertrophic cardiomyopathy is also called IHSS.

Autosomal Dominant

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23
Q

Short bent femurs, humerus, radii, and thoracic circumference <5%. Normal ossification of cranuim and spine. What is the most likely diagnosis?

A

Thanatophoric Dysplasia

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24
Q

How does dialysis change with pregnancy?

  1. Longer sessions
  2. More frequent sessions
  3. Add less calcium to dialysate
  4. Add more HCO3 to dialysate
A

Longer sessions

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25
Q

What enable increased fetal calcium?

A

Increased intestinal absorption of calcium from mother

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26
Q

Why does creatinine decrease in pregnancy?

A

Increased renal perfusion and renal plasma flow (GFR)

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27
Q

What represents a thyroid profile of first trimester?

A

TSH decreases slightly

FT4 remains same

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28
Q 
What is least commonly seen in fetal alcohol syndrome?
 SUA 
 IUGR 
 midface hypoplasia
 renal dysplasia 
 MR
A

Single Umbilical artery

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29
Q

Low level of which hormone is most associated with placental insufficiency?

A

low PAPP-A

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30
Q

What is FGR at 20 weeks most associated with?

A

Triploidy, If >26 weeks probably Trisomy 18

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31
Q

What is the most common aneuploidy found in first trimester abortions?

A

Trisomy 16

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32
Q

What is the gestational age at which fetal lung alveolarization occurs?

A

36 weeks

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33
Q

What is the major component of surfactant?

A

Phosphotidylcholine

34
Q

Which stage of lung development is surfactant produced?

A

Saccular phase

35
Q

Which disease is most transmittable in breastfeeding?

A

CMV

36
Q

In what setting is Down Syndrome most likely?

  1. brachycephaly
  2. Hypoplasia of mid phalangeal joint of 5th digit
  3. normal humerus
A

Hypoplasia of the midphalanx of the fifth digit

37
Q 
What condition results from pituitary deficiency?
 acromegaly
 diabetes insipidus 
 addisons 
 cushings
A

Diabetes Insipidus (Decreased ADH from Posterior pituitary)

38
Q

What is the Barker hypothesis on fetal programming saying for IUGR fetuses?

A

They will develop Type 2 Diabetes later in life or metabolic syndrome

39
Q

What is the most important factor affecting Positive Predictive Value?

A

Prevalence of disease

40
Q 
What is the least common with myxedema?
 hypothermia
 hypoglycemia
 bradycardia
 hypocapnia
A

Hypocapnea
In Myxedematous coma patients have (Low blood sugar, low blood pressure, hyponatremia, hypercapnia, hypoxia, slowed heart rate, and hypoventilation)

41
Q

What is the best way to test for a fetus having CAH?

A

Direct gene testing

42
Q 
Which PG is not associated with labor?
 PGE 1
 PGE 2 
 PGE 3 
 prostacyclin 
 thromboxane
A

Prostacyclin

43
Q

If a patient tests IgM positive at 20 weeks for parvovirus, how long should the pregnancy be monitored?

A

Serial ultrasound should be performed every 1-2 weeks after exposure for 8-12 weeks. (Peak hydrops risk as at 4-6 weeks after maternal infection)

44
Q

What is the #1 cause of low maternal estriol?

A

Placental sulfatase deficiency , SLOS, X linked Icthyoses

45
Q

What is the main source of estriol?

A

C19 adrenal steroids (DHEAS from fetal adrenals)

46
Q

Which artery most likely to cause vulvar hematoma?

A

Branches of pudendal artery

47
Q

When you open the broad ligament, where is the ureter located?

A

Crosses over the common iliac artery

48
Q

What is the most likely diagnosis if NT > 4mm?

A

45X - Turners , most common with very increased NT

49
Q

Pfannestial incision opening rectus muscles, what vessels are most likely injured?

A

Epigastric vessels

50
Q

Which medication increases cardiac contractility?

A

Beta agonist

51
Q

Which medication increases cardiac output when preload and afterload are optimized?

A

Dobutamine (B agonist)

52
Q

How can you distinguish preeclampsia from lupus flare?

A

Increased Urine Sediment, Decreased CH50 activity, Anti DsDNA

53
Q

How would you investigate whether there is an association between smoking and bladder cancer?

A

Case control study (Compares a group with disease to a group without and looks back at risk factor)

54
Q

Maternal blood comes into direct contact with what?

A

Syncytiotrophoblasts

55
Q

Which rash is associated with the worst fetal/neonatal outcomes?

A

Pemphigoid AKA Herpes Gestationalis

56
Q

Discussion of mode of delivery in a pregnancy with a lethal anomaly involves which ethical principal?

A

Autonomy

57
Q

When can a physician override refusal of treatment?

A

Lack of capacity

58
Q

What is the first line medication when there is uterine inversion?

A

Terbutaline , second line Nitroglycerine

59
Q

When a CVS result is mosaic, what is the most likely outcome?

A

Confined placental mosaicism

60
Q

Which anesthetic has the fastest onset of action?

A

Lidocaine

61
Q

In TRAP what is found in the acardiac twins’s Dopplers?

A

Pulsatile flow in UA

Continuous flow in UV

62
Q

After an overnight fast, what is most likely decreased in the morning?

A

Glucose

63
Q

What lab value are features of DKA?

A

PH: <7.3
HCO3: <15
AG: >12
+Ketones

64
Q 
If O2 is decreased, which fetal organ gets less blood flow?
 Lungs
 Brain
 Adrenals
 Myocardium
A

Lungs,

Fetus will maintain flow to Brain and Adrenals and Myocardium

65
Q

Which medicine is NOT associated with PPHN?

Keppra, NSAIDs, SSRIs

A

Keppra

66
Q

What is the most common enzyme deficiency in CAH?

A

21 α Hydroxylase deficiency

67
Q

What is MOA of iodine in maternal thyroid function?

A

Blocks release of thyroid hormone from the gland

68
Q

What Ultrasound finding is agenesis of the corpus callosum most associated with?

A

Absent CSP

Also colpocephaly

69
Q

What is the most common location of an arachnoid cyst?

A

Middle Cranial Fossa

70
Q 
The 4 chamber view is not sensitive for detecting which cardiac anomaly?
 HLHS
 TGA
 Ebsteins Anomaly
 VSD
A

Transposition of great arteries (also bad for Coarctation)

71
Q

Which fish should be avoided in pregnancy?

A

King Mackeral

72
Q 
Which disease is NOT associated with relapsing/remitting fevers?
 Brucella
 Lyme
 Malaria
 Listeria
A

Listeria

73
Q

Why does NPH stay longer in body than aspart?

A

Increased halflife due to protamine and pH

74
Q

What does wedge pressure represent?

A

LV preload

75
Q

Which coagulation factor is decreased in pregnancy?

A

Protein S, Factor XI, Factor XIII, Platelets

76
Q

Which cytokine is anti-inflammatory?

A

IL-10

77
Q

Which condition does plasmapheresis treat?

A

TTP

78
Q

What nerve causes foot drop?

A

Common peroneal

79
Q

What nerve injury causes decreased labial sensation?

A

Illioinguinal

80
Q

Which nerve injury causes decreased mons sensation?

A

iliohypogastric

JFNG (9 decks)

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