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Eden general board review > Eden general board review > Flashcards

Eden general board review Flashcards

1
Q

presentation of fatty acid oxidation disorders

A

hypoketotic hypoglycemia

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2
Q

one best test for fatty acid oxidation disorders

A

plasma acylcarnitines

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3
Q

presentation of organic acidemias

A

metabolic acidosis with anion gap

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4
Q

one best test for organic acidemias

A

urine organic acids

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5
Q

presentation of aminoacidopathies

A

NO acidosis or hyperammonemia

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6
Q

one best test for aminoacidopathies

A

plasma amino acids

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7
Q

presentation of urea cycle disorders

A

hyperammonemia with NO acidosis

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8
Q

one best test for urea cycle disorders

A

hyperammonemia (and plasma amino acids, urine orotic acid)

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9
Q

metabolic test indication of mitochondrial disorder

A

high lactate (lactate:pyrivate)

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10
Q

what differentiates marfan from homocystinuria?

A

marfan has aortic dilation and joint hypermobility, also marfan would have normal metabolic profile

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11
Q

presentation of fabry in males and females

A

painful hands and feet or abdominal pain in late childhood/early adulthood. Eventually renal disease due to proteinuria if untreated.

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12
Q

heteroplasmy in mitochondria

A

intracellular mosaicism

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13
Q

bottleneck in mitochondria

A

random process where daughter cells of one primary cell has different loads of mtDNA. If primary cell is 50% daughter cell can have more or less. One reason so variable.

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14
Q

most common form of inheritance for mito disorders

A

autosomal recessive (only 30-40 mtDNA genes code for mitochondria, the rest are nuclear)

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15
Q

components included in calculation of first trimester screen

A

papp-a, hcg, nuchal, gestational age, and demographics (age, race, weight) (some labs use afp)

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16
Q

pattern of abnormal first trimester screen for down syndrome

A

low papp-a, high hcg

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17
Q

pattern of abnormal first trimester screen for trisomy 13/18

A

loww papp-a, low hcg

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18
Q

when is a first trimester screen done?

A

12-14 weeks

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19
Q

what analytes are used in the quad screen

A

afp, estriol, hcg, inhibin

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20
Q

what is the pattern of analytes on a quad screen for down syndrome

A

hcg and inhibin INCREASED, afp and estriol DECREASED

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21
Q

what is the pattern of analytes on a quad screen for t18

A

hcg, inhibin, estriol and afp all decreased

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22
Q

when is a quad screen done

A

15-22 weeks

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23
Q

what can a high AFP mean besides ONTD?

A

abdominal wall defect! (also twins, misdating, bleeding etc)

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24
Q

what can low estriol mean besides anueploidy?

A

x-linked icthyosis and smith lemli opitz

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25
Q

sonographic findings with T18

A

rocker bottom feet, clenched hands, choroid plexus cysts, ontd, strawberry sign, micrognathia, polyhydramnios, renal abnormalities

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26
Q

sonographic findings with t13

A

cleft lip/palate, microcephaly, heart defects, IUGR, omphalocele, polydactyly, polycystic kidneys

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27
Q

carrier rate for CF

A

1 in 25 (slightly higher in AJ)

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28
Q

carrier rate for sickle cell

A

1 in 12 AA

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29
Q

carrier rate for tay sachs

A

1 in 25 AJ, 1 in 250ish everyone else

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30
Q

risks of warfarin in pregnancy

A

nasal bone hypoplasia, bone abnormalities, CNS abnormalities, eye abnormalities

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31
Q

risk of depakote (valproic acid) in pregnancy

A

ntd, heart, hypospadias, cleft lip, limb abnormalities

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32
Q

risks for insulin dependent diabetes in pregnancy

A

cns defects, cardio defects, skeletal defects. no clear risks for gestational or type 2 (non insulin dependent)

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33
Q

risks of prozac (Fluoxitine) in pregnancy

A

cardiac early in pregnancy. later on neonatal adaptation.

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34
Q

risks of acutane (retinoids) in pregnancy

A

craniofacial, cns, cardiac. missing thymus. cognitive delay.

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35
Q

offspring options of paracentric inversion

A

does not include centromere. can lead to unviable offspring.

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36
Q

offspring options of paricentric inversion

A

includes centromere. can lead to viable offspring with a phenotype

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37
Q

FAP common mutation

A

The most frequent APC pathogenic variant is located at codon 1309 (c.3927_3931delAAAGA)

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38
Q

most common heart defect in noonan

A

pulmonic stenosis

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39
Q

most common heart defect in down syndrome

A

antrioventricular septal defect (av canal defects)

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40
Q

whats the most common heart defect in general?

A

VSD

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41
Q

most common heart defect in williams syndrome

A

supravalvular stenosis

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42
Q

most common heart defect in turner syndrome

A

bicuspid aortic valve and coarctation of the aorta

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43
Q

most common heart defect in 22q

A

tetralogy of fallot and other conotruncal defects

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44
Q

presentation of smith lemli opitz

A

defect in cholesterol metabolism. Characterized by poor growth, ID, microcephaly and anomalies

45
Q

common anomalies seen in SLOS

A

heart defects, cl/p, genital anomalies ie hypospadias, polydactyly

46
Q

inheritance pattern of SLOS

A

AR

47
Q

gene that causes SLOS

A

DHCR7, codes for 7-DHC reductase

48
Q

prenatal indication of SLOS

A

low estriol on serum screen (also could mean icthyosis) and US findings such as IUGR, cleft lip, syndactyly, abnormal genitalia

49
Q

carrier frequency for SLOS

A

1 in 30

50
Q

presentation of meckel gruber syndrome

A

lethal ciliopathy characterized by encephalocele, renal cystic dysplasia, bowing of limbs, and polydactyly.

51
Q

US findings indicative of meckel syndrome

A

polydactyly, bowing of limbs and encepohalocele. Can have polyhydramnios

52
Q

inheritance pattern of meckel syndrome

A

AR

53
Q

presentation of DMD

A

progressive proximal muscle weakness. Delayed milestones and wheelchair by 12 years old. cardiomyopathy by 18.

54
Q

presentation of BMD

A

later onset progressive proximal muscle weakness. Cardiomyopathy but later than DMD

55
Q

presentation of females with DMD pathogenic variant

A

can be asymptomatic or have full condition. At risk of cardiomyopathy

56
Q

genotype-phenotype correlation for BMD vs DMD

A

generally follow the reading frame rule. if deletion alters reading frame, will be more severe DMD phenotype vs if it is in frame will be more mile BMD phenotype

57
Q

presentation of myotonic dystrophy type 1

A

can be mild- cataracts and mild myotnia or diabetes; classic- cataracts, myotonia and cardiac defects, and congential- severe weakness and respiratory insufficiency, often with ID and early death

58
Q

genetic mechanism of myotonic dystrophy type 1

A

expanded trinucleotide repeat (CTC) in DMPK gene causes expanded messenger RNA that forms clumps and interferes with muscle

59
Q

difference in muscle weakness for myotonic dystrophy versus dystrophinopathies

A

DMD/BMD is proximal while myotonic dystrophy is more distal. CK elevated in DMD/BMD and may be slightly in myotonic dystrophy but not usually observed in asymptomatic individuals

60
Q

allele sizes for myotonic dystrophy

A

Normal: 5-34
pre-mutation: 35-49
full penetrance: 50+ (differs for mild, classic, and congenital)

61
Q

allele sizes for mild, classic, and congenital myotonic dystrophy

A

mild: 50-150
classic: 150-1,000)
congenital: 1,000+
(can all overlap, but in general)

62
Q

FMR-1 related disorders

A

fragile-x, fragile x assocaited tremors and ataxia, fmr-1 related primary ovarian insufficiency

63
Q

risks of being a fragile x pre-mutation carrier

A

males- fxtas, females- rarely fxtas, POI, and child with fragile X

64
Q

allele sizes for fragile x

A

normal: 5-44
gray zone: 45-54
pre-mutation: 55-200 (at risk of fxtas and poi)
fully penetrant: 200+

65
Q

testing for fragile X repeats

A

CGG repeats can be identified by PCR when in normal and pre-mutation range however southern blot analysis is required to identify larger repeats.

66
Q

genetic mechanism in fragile X

A

3’ repeats of CGG cause abnormal hypermethylation of FMR1 and is the cause of transcriptional silencing

67
Q

role of AGG repeats in fragile X risks

A

AGG repeats may make stretch of CGG repeats more stable and less at risk of expansion

68
Q

skin findings of Cowden

A

trichilemmomas and papillomatous papules

69
Q

skin findings in Birt Hogg Dube

A

trichodiscomas, angiofibroma,

70
Q

presentation of birt hogg dube

A

skin findings, renal tumors, pneumothorax

71
Q

presentation of peutz-jegher

A

gastrointestinal polyposis, dark pigment on lips, cancer risk

72
Q

repeat sizes in huntingtons

A

Normal: up to 26
Intermediate: 27-35
reduced penetrance: 36-39
Full Penetrant: 40 or more

73
Q

belmont report core principles for research

A

core principles are identified: respect for persons, beneficence, and justice

74
Q

belmont report primary areas of application

A

informed consent, assessment of risks and benefits, and selection of subjects

75
Q

Prader-willi testing

A

Start with methylation. Mechanism is most likely deletion, then UPD, rarely imprinting center defect

76
Q

angelman syndrome testing

A

methylation for UPD and deletion. If normal and clinically suspected, sequence of UBE3A

77
Q

beckwith weidemann testing

A

imprinting center 2 defect (loss of maternal methylation), paternal UPD, imprinting center 1 defect (gain of maternal methylation)

78
Q

russell silver testing

A

Chromosome 11- imprinting center 1 defect (hypomethylation of paternal), Chromosome 7- maternal UPD

79
Q

presentation of hypertrophic cardiomyopathy

A

left ventricular hypertrophy. Can be asymptomatic, progressive heart failure, or sudden death.

80
Q

inheritance of hypertrophic cardiomyopathy

A

AD

81
Q

diagnosing hypertrophic cardiomyopathy

A

imagine ie echocardiogram

82
Q

genetic mechanism in hypertrophic cardiomyopathy

A

pathogenic variants affecting sarcomeres

83
Q

how often can a mutation be found in hypertrophic cardiomyopathy?

A

50-60%

84
Q

sensitivity

A

=true positive/true positives + false negatives

85
Q

specificity

A

=true negatives/true negatives + false positives

86
Q

positive predictive value

A

=true positives/true positives + false positives

87
Q

negative predictive value

A

=true negatives/true negatives + false negatives

88
Q

timing of CLP and NTD for exposure counseling

A

neural tube closed by week 4, palate forming and fused 6-12 weeks

89
Q

Wilson disease is a disorder of what?

A

copper metabolism

90
Q

What are the main features of Wilsons disease?

A

neuro symptoms, psych symptoms, and liver failure

91
Q

Inheritance of Wilson disease

A

autosomal recessive

92
Q

Inheritance of Menkes disese

A

x-linked

93
Q

Menkes disease is a disorder of what?

A

Copper metabolism

94
Q

What are the features of Menkes?

A

more severe than wilson, neuro findings. loss of developmental milestones. Brittle hair! (kinky hair disease). Death by 3. Menkes does NOT include liver failure like Wilsons.

95
Q

what are the features of TSC?

A

renal cancer, ID, angiofibromas, central nervous system tumors, can have heart problems (rhabdomyomas and arrhythmias), and lung issues

96
Q

What is the difference between TSC1 and TSC2?

A

TSC2 tends to be more severe. TSC2 more likely to be de novo. TSC1 is about 50/50 de novo vs inherited

97
Q

What is alpha-1-anti trypsin deficiency?

A

emphysema, COPD, liver disease

98
Q

What are the clinical features of MEN1?

A

three p’s- Primary hyperparathyroidism, Pancreatic and duodenal neuroendocrine tumors, and Pituitary tumors.

99
Q

What is the gene in MEN1?

A

MEN1

100
Q

What condition does MEN2b look like (physically?)

A

marfan body habitus

101
Q

Do MEN2a and MEN2b both have parathyroid issues?

A

NO, only MEN2a

102
Q

What is the gene in MEN2?

A

RET

103
Q

What is the gene in MEN2?

A

RET

104
Q

common mutations in HFE gene

A

C282Y and H63D

105
Q

what gene is involved in hemachromatosis

A

HFE

106
Q

features of friedreichs ataxia

A

dysarthia (slurred speech), muscle weakness, lower limb spasticity, scoliosis. Can have cardiomyopathy and diabetes.

107
Q

age of onset of friedreichs ataxia

A

typically before age 25 (mean 10-15)

108
Q

inheritance of friedreichs ataxia

A

typically biallelic GAA repeats in FXN, rarely compound heterozygous for expanded repeat and different mutation (can sequence or do del/dup)

109
Q

expansion sizes for Friedreichs ataxia

A

normal- 5 to 33
premutation- 34 to 65 (borderline/reduced penetrance is 44 to 66)
full mutation- 66 to 1,300

Eden general board review (1 decks)

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