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Wk2 Flashcards

Teratogens, genetic diseases (63 cards)

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1
Q

Oligohydraminos

A

deficiency in amniotic fluid leading to decreased fetal kidney function, Potter’s syndrome(pulmonary hypoplasia,limb/skeletal deformities from loss of cushioning in the womb)

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2
Q

Valproic acid/carbamazepine

A

neural tube defects (give them high dose folic acid supplementation)

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3
Q

phenytoin

A

growth deficiency, anormal facial features, “Fetal Dilantin syndrome” - nail hypoplasia microcephaly, cleft lip and cleft palate

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4
Q

chemotherapy

A

target rapidly dividing cells in the baby. ideally defer chemo after birth or in 3rd trimester.

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5
Q

highest risk chemos to fetus

A

alkylating agents and antimetabolites- missing digits, spontaneous abortions

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6
Q

Isotretinoin(Accutane)

A

Pregnancy class X- derivative of vitamin A used to treat acne. spontaneous abortions. CNS, cardiac, ear, thymic branch arch anomalies, hydrocephalus, cerebellar hypoplasia prescribe with birth control

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7
Q

Vitamin A excess

A

teratogen in 1st trimester- spontaneous abortions, microcephaly, cardiac anomalies

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8
Q

Methotrexate/Misoprostol

A

inhibits folate metabolism, used as anti-inflammatory/cancers/dermatomyositis. Pregnancy class X- used to induce abortion in ectopic pregnancy. neural tube defects

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9
Q

Warfarin

A

anticoagulant pregnancy class D. Fetal hemorrhage, spontaneous abortion, optic atrophy. Warfarin embryopathy- bone and cartilage abnormalities, stippled epiphyses: small, round densities on X-ray, nasal and limb hypoplasia

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10
Q

Methimazole

A

treatment for hyperthyroidism. Pregnancy class D- aplasia cutis( absence of epidermis on scalp). Use propythiouracil(PTU) in 1st trimester instead

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11
Q

Lithium

A

psychiatric disorders. pregnancy class D. heart defects- ebstein’s anomaly of the tricuspid valve

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12
Q

Aminoglycosides

A

Antibiotic- permanent deafness

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13
Q

Tetracycline

A

Antibiotic- accumulate in fetal teeth and long bones, may permanently discolor fetal teeth

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14
Q

Fluoroquinolones

A

Antibiotic-fetal cartilage damage

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15
Q

Trimethoprim

A

Antibiotic- may disrupt folate metabolism in fetus–> neural tube defects

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16
Q

Sulfonamides

A

displace bilirubin from albumin. can cause kernicterus (brain damage from high bilirubin levels)

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17
Q

Thalidomide

A

Pregnancy class X, rarely used for treatment of multple myeloma. Limb deformities

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18
Q

Diethylstilbesterol

A

nonsteroidal estrogen- teratogen removed from US market in 1971

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19
Q

Fetal alcohol Syndrome (FAS)

A

alcohol is a neurotoxin. babies born with ID, skeletal anomalies, smooth philtrum, short palpebral fissures, thin upper lip (vermillion border congenital heart defects- ASD, VSD, Tetraology of Falot. small babies, limb defects.

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20
Q

nicotine and carbon monoxide

A

nicotine-induced vasoconstriction decreases placental blood flow CO competes with O2 decreasing oxyhemoglobin in maternal blood. Intrauterine growth restriction (IUGR)/ low birth weight, SIDS

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21
Q

Cocaine

A

vasoconstriction IUGR/low birthweight, placental abruption, preterm birth, miscarriage, microcephaly

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22
Q

Mercury

A

from seafood- delayed milestones, rarely blindness, deafness, cerebral palsy

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23
Q

X-rays

A

no evidence of harm at small doses but high doses may cause ID, microcephaly. Lead shielding

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24
Q

Maternal Diabetes

A

(fetopathy) macrosomia, blood sugar alterations, congenital heart disease(transposition of the great arteries), CNS disorders.

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25
Neonatal hypoglycemia
Maternal diabetes-baby makes excess insulin. usually transient.
26
Caudal regression syndrome(sacral agenesis)
insulin dependent mothers- incomplete development of sacrum. may include sirenomelia (mermaid syndrome)
27
Maternal PKU
mom can't metabolize Phenylalanine which acts as teratogen at high doses
28
ACE inhibitors
renal damage from decreased renal blood flow. hypotension, anuria, skull hypoplasia
29
TORCH infections
Intrauterine growth restriction (IUGR), prematurity. hypo/hyperthermia, apnea, tachypnea. CNS- hypo/hypertonia, seiaures, microcephaly, hydrocephalus
30
Congenital Rubella syndrome
IUGR, microcephaly, cataracts, sensorineural hearing loss, chorioretinitis, mengioencephalitis, ID. There is a vaccine
31
Congenital cytomegalovirus infection
1% of new borns, sensorineural hearing loss, chorioretinitis, microcephaly, hearing loss in some asymptomatic newborns
32
Zika Virus
severe neurological complications: microcephaly. Neurotropism: inflammation, apoptosis
33
Maternal insulin dependent diabetes
congential anomalies in 1st trimester. Cardiac, sacral defects, neural tube defects, pregnancy loss. Termed an embryopathy- 10% risk at birth
34
chimerism
two genomes present in one individual. very rare
35
somatic mosiacisms
mosiacism in the body which usually develops post-conception (mosiac trisomy 8)
36
Congenital hyperpigmentation
Male with mental retardation and swirling pigmentation. somatic mosiacism for a chromosomal abnormality (Incontinentia pigmenti is X linked gene problem)
37
Genomic imprinting
parent-of-origin difference in gene expression from choromosomal homologs. epigenetic modification
38
Uniparental Disomy (UPD)
both chromosomes are inherited from one parent. (trisomy with loss of one of the extra chromosomes)
39
Prader-Willi Syndrome
lack of expression at paternal genes at 15q11-13. 1/15,000. neonatal hypotonia and cryptorchidism. Hypothalamic dysfunction- lack of satiety and subsequent obesity. hypogonadotropic hypogonadism; growth hormone deficiency and subsequent short stature and dimished muscle. cognitive/behavioral impairment
40
Genetic mechanisms leading to prader-willi syndrome
70% deletion at paternal chromosome 15. Maternal UPD, Imprinting defect
41
Angleman Syndrome
caused by lack of brain expression of maternally inherited UBE3A gene at 15q11-13. 1/15,000 births. severe mental retardation with limited speech, ataxic gait, seizures, spontaneously happy affect
42
Genetic Mechanisms of angleman syndrome
70% deletion, UBE3A mutation, Paternal UPD, 2% Imprinting Defect
43
Fragile X Syndrome
X-linked Dominant trinucleotide repeat in FMR1 gene on X chromosome near the promotor region in 5'UTR . 15-20% have developmental delay. macrocephaly, long face, prominent forehead and chin, protruding ears, joint laxity, large testes after puberty, behavioral abnormalities like autism spectrum disorder
44
Mitochondrial disorders
13 proteins, can affect any tissues- mostly affect neurologic, muscular and cardiac. No real effective treatment.
45
Huntington Disease
Autosomal Dominant mutations in HTT gene (4p16.3) that codes for huntingtin protein in CAG trinucleotide repeat. Chorea, Ataxia, Dysarthria, cognitive decline, psychiatric disturbances
46
FMRP protein of FMR1 gene
maturation of dendrites. gene gets silenced by methylation of CGG repeats . hypermethylation of the region results in meC binding protein recruiting HDACS which deacetylates histones resultine in condensed chromatin and silencing of the FMR1 promoter
47
Fragile X monitor diseases
mitral valve prolapse, hypertension, seizure, ophthalmologic evaluation for sgtrabismus
48
Friedreich Ataxia (FRDA)
autosomal recessive mutation in FXN gene, GAA repeat expansion on first intron causes transcriptional repression. expanded repeats on both alleles neurologic disorder classically presents at 5-15 years of age. poor coordination and balance, vision, hearing, high plantar arches wheelchair by age 10. Treat symptoms. possibly use propanolol
49
Myotonic Dystrophy (DM)
autosomal inheritance expansion of CTG repeat in 3'UTR of myotonic dystrophy protein kinase gene (DMPK) on chromosome 19q and expanded ZNF gene (intron 1)1:8000 tenting of upper lip, skeletal, cardiac and smooth muscles, CNS, cataracts, endodrine, immune systems. `
50
deformation
no inherent problem in embryo/fetus/neonate. Mechanical forces result in altered formation. 2nd and 3rd trimesters
51
Disruption
breakdown of normal tissue- vasular, infection, mechanical problems. Example-amiotic band sequence
52
Syndrome vs. Sequence
syndrome: pattern of anomalies, morphologic, known to be causally related (gene or teratogen) Sequence: one or more secondary morphologic anomalies known or presumed to cascade from a single malformation, disruption or deformation
53
Phenootypic Heterogeneity
different mutation in same gene give rise to very different phenotypes
54
Noonan Syndrome
RAS/MAPK pathway
55
Rac1
multiple roles in cellular functions, including actin cytoskeleton organization, cell adhesion, migration, proliferation, and apoptosis in mammalian cells(hands)
56
Cryptorchidism
failure of testes to descend. nonspecific and usually resolves itself
57
Neuronal Migration- Heterotopias
apparently normal neurons in abnormal locations. periventricular nodular heterotopia (PNH syndromes) Genes: FLNA most common, LIS1 (lissencephaly), DCX(doublecortin)
58
Tuberous sclerosis
autosomal dominant. hamartomas- abnormally firm areas of cortex, cardiac rhabdomyoma , skin and nail findings - unual fibroma, facial angiofibroma, ashleaf spots, seiaures, genes TSC1, TSC2
59
HOX genes
body patterning. Temporal colinearity- 3'Hox genes expressed earlier than 5' genes. Spacial colinearity -3' genes expressed more anteriorly than 5' Hox genes.
60
PAX genes
Transcription regulators- eye development
61
Waardenburg Syndrome (I-IV)
Type 1: PAX3, AD. heterochromia (no vision problems) hypertelorism (widely spaced eyes) White forlock, deafness Type IV: hirschsprung disease, aganglionic megacolon
62
Sonic hedgehog/SHH
holoprosencephaly, clefting, missing or malformed midline structures, cyclopia, single central incisor, absent frenulum
63
Adenovirus for gene therapy
infects respiratory epithelia, can carry a large payload, but high immune response. NOT STABLY INTEGRATED into the genome. expression is transient

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