Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

FMS > Wk2 > Flashcards

Wk2 Flashcards

Teratogens, genetic diseases

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Valproic acid/carbamazepine

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

phenytoin

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

chemotherapy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

highest risk chemos to fetus

A

alkylating agents and antimetabolites- missing digits, spontaneous abortions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Vitamin A excess

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Methimazole

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Lithium

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Aminoglycosides

A

Antibiotic- permanent deafness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Tetracycline

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Fluoroquinolones

A

Antibiotic-fetal cartilage damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Trimethoprim

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Sulfonamides

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Thalidomide

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Diethylstilbesterol

A

nonsteroidal estrogen- teratogen removed from US market in 1971

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Cocaine

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Mercury

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

X-rays

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Maternal Diabetes

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Neonatal hypoglycemia

A

Maternal diabetes-baby makes excess insulin. usually transient.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Caudal regression syndrome(sacral agenesis)

A

insulin dependent mothers- incomplete development of sacrum. may include sirenomelia (mermaid syndrome)

27
Q

Maternal PKU

A

mom can’t metabolize Phenylalanine which acts as teratogen at high doses

28
Q

ACE inhibitors

A

renal damage from decreased renal blood flow. hypotension, anuria, skull hypoplasia

29
Q

TORCH infections

A

Intrauterine growth restriction (IUGR), prematurity. hypo/hyperthermia, apnea, tachypnea. CNS- hypo/hypertonia, seiaures, microcephaly, hydrocephalus

30
Q

Congenital Rubella syndrome

A

IUGR, microcephaly, cataracts, sensorineural hearing loss, chorioretinitis, mengioencephalitis, ID. There is a vaccine

31
Q

Congenital cytomegalovirus infection

A

1% of new borns, sensorineural hearing loss, chorioretinitis, microcephaly, hearing loss in some asymptomatic newborns

32
Q

Zika Virus

A

severe neurological complications: microcephaly. Neurotropism: inflammation, apoptosis

33
Q

Maternal insulin dependent diabetes

A

congential anomalies in 1st trimester. Cardiac, sacral defects, neural tube defects, pregnancy loss. Termed an embryopathy- 10% risk at birth

34
Q

chimerism

A

two genomes present in one individual. very rare

35
Q

somatic mosiacisms

A

mosiacism in the body which usually develops post-conception (mosiac trisomy 8)

36
Q

Congenital hyperpigmentation

A

Male with mental retardation and swirling pigmentation. somatic mosiacism for a chromosomal abnormality (Incontinentia pigmenti is X linked gene problem)

37
Q

Genomic imprinting

A

parent-of-origin difference in gene expression from choromosomal homologs. epigenetic modification

38
Q

Uniparental Disomy (UPD)

A

both chromosomes are inherited from one parent. (trisomy with loss of one of the extra chromosomes)

39
Q

Prader-Willi Syndrome

A

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
Q

Genetic mechanisms leading to prader-willi syndrome

A

70% deletion at paternal chromosome 15. Maternal UPD, Imprinting defect

41
Q

Angleman Syndrome

A

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
Q

Genetic Mechanisms of angleman syndrome

A

70% deletion, UBE3A mutation, Paternal UPD, 2% Imprinting Defect

43
Q

Fragile X Syndrome

A

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
Q

Mitochondrial disorders

A

13 proteins, can affect any tissues- mostly affect neurologic, muscular and cardiac. No real effective treatment.

45
Q

Huntington Disease

A

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
Q

FMRP protein of FMR1 gene

A

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
Q

Fragile X monitor diseases

A

mitral valve prolapse, hypertension, seizure, ophthalmologic evaluation for sgtrabismus

48
Q

Friedreich Ataxia (FRDA)

A

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
Q

Myotonic Dystrophy (DM)

A

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
Q

deformation

A

no inherent problem in embryo/fetus/neonate. Mechanical forces result in altered formation. 2nd and 3rd trimesters

51
Q

Disruption

A

breakdown of normal tissue- vasular, infection, mechanical problems. Example-amiotic band sequence

52
Q

Syndrome vs. Sequence

A

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
Q

Phenootypic Heterogeneity

A

different mutation in same gene give rise to very different phenotypes

54
Q

Noonan Syndrome

A

RAS/MAPK pathway

55
Q

Rac1

A

multiple roles in cellular functions, including actin cytoskeleton organization, cell adhesion, migration, proliferation, and apoptosis in mammalian cells(hands)

56
Q

Cryptorchidism

A

failure of testes to descend. nonspecific and usually resolves itself

57
Q

Neuronal Migration- Heterotopias

A

apparently normal neurons in abnormal locations. periventricular nodular heterotopia (PNH syndromes)
Genes: FLNA most common, LIS1 (lissencephaly), DCX(doublecortin)

58
Q

Tuberous sclerosis

A

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
Q

HOX genes

A

body patterning. Temporal colinearity- 3’Hox genes expressed earlier than 5’ genes. Spacial colinearity -3’ genes expressed more anteriorly than 5’ Hox genes.

60
Q

PAX genes

A

Transcription regulators- eye development

61
Q

Waardenburg Syndrome (I-IV)

A

Type 1: PAX3, AD. heterochromia (no vision problems) hypertelorism (widely spaced eyes) White forlock, deafness
Type IV: hirschsprung disease, aganglionic megacolon

62
Q

Sonic hedgehog/SHH

A

holoprosencephaly, clefting, missing or malformed midline structures, cyclopia, single central incisor, absent frenulum

63
Q

Adenovirus for gene therapy

A

infects respiratory epithelia, can carry a large payload, but high immune response. NOT STABLY INTEGRATED into the genome. expression is transient

FMS (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions