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CTMD LOMO > All CTMD Diseases > Flashcards

All CTMD Diseases Flashcards

1
Q

Defects in cilia

A

primary ciliary dyskinesia

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2
Q

Defects in primary cilia

A

ciliopathies

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3
Q

Three inherited collagen disorders

A

Ehlers-Danlos, OI, osteoarthritis

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4
Q

Acquired collagen disorder and what step

A

Scurvy. Can’t hydroxylate proline, PROLYL HYDROXYLASE –> requires vit C as cofactor

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5
Q

Marfan’s Syndrome

A

defect in elastic tissue, fibrillin gene

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6
Q

Sacrococcygeal Teratoma

A

occurs when remnants of primitive streak persist as pluripotent cells proliferating in buttocks region

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7
Q

Hirschsprung Disease

A

failure of neural crest cells to migrate into wall of developing large intestine, reduced diameter of distal colon caused by tonic contraction of non-innvervated muscles “backs up” system and causes dilation of more proximal segments

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8
Q

polyhydramnios and oligohydramnios

A

excess and decreased amounts of amniotic fluid, respectively

Both conditions may indicate presence of birth defects such as esophageal atresia, or defective kidneys

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9
Q

achondroplasia (what and cause)

A

most common form of dwarfism, affects long bones

Cause: mutation in FGF receptors

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10
Q

craniosynostosis (what and cause)

A

premature closure of one or more cranial sutures, malformed cranium

Cause: mutation in FGF receptors

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11
Q

polysyndactyly (what and cause)

A

extra fused digits

Cause: Mutations in HOXD13 gene

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12
Q

holoprosencephaly

A

broad spectrum of defects based upon defective formation of forebrain

Cause: mutations in SHH gene (SHH is secreted by prechordal plate and induces forebrain formation)

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13
Q

hypotelorism

A

underexpression of SHH, eyes close together, proboscis

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14
Q

hypertelorism

A

overexpression of SHH, eyes far apart

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15
Q

Renal-Coloboma Syndrome

A

mutation in PAX2 gene

clefting defect of eye, underdevelopment of kidney

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16
Q

brachycephaly

A

flat head syndrome

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17
Q

palpebral fissure

A

line from inner to outer corners of eyes

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18
Q

philtrum

A

groove in area between upper lip and nose

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19
Q

micrognathia

A

undersized jaw

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20
Q

frontal bossing

A

development of unusually pronounced forehead as result of enlarged frontal bone

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21
Q

omphalocoele

A

abdominal wall defect in which liver and intestines remain outside in a sac because of a defect in development of muscles of abdominal wall, oftentimes correlated with genetic defects (60% of time)

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22
Q

gastroschisis

A

defect in anterior abdominal wall through which abdominal contents freely protrude, not usually correlated with genetic anomaly

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23
Q

Robin malformation sequence

A

micrognathia –> displacement of tongue (glossoptosis) –> cleft soft palate

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24
Q

VACTERL association

A

VACTERL association: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities

Not related in any obvious way

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25
Q

Common findings in triploidy

A
  • microsomia

- fused 3rd and 4th fingers

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26
Q

Down Syndrome chromosomal abnormalities

A

94% trisomy 21 (usually originate from mother, risk of non-disjunction with increasing maternal age)
3% mosaic
3% trisomy 21 due to unbalanced translocation

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27
Q

Down Syndrome Clinical Findings

A
  1. short stature
  2. developmental delay/mental retardation
  3. upslanting palpebral fissures
  4. increased skin on back of neck
  5. hearing loss
28
Q

Causes of death in Down Syndrome

A

Infancy: heart disease (do EKGs early to identify any heart defects), leukemia, respiratory issues

Late adult: worsening immune system, premature aging, early-onset dementia

29
Q

Trisomy 18/Edward’s Syndrome

A

Common with 13: heart disease, rocker bottom feet, poor survival, mental retardation

DISTINCT: omphalocoele, micrognathia, 5 over 4 and 2 over 3
Survives longer than 13 usually (~1 year)

30
Q

Trisomy 13

A

Common with 18: heart disease, rocker bottom feet, poor survival, mental retardation

DISTINCT: polydactyly, cleft lip/palate, holoprosencephaly
Lives only for about a month

31
Q

Turner Syndrome

A

45, X
- short stature, streak gonads, amenorrhea, webbed neck, prominent ears, shield chest, renal malformations common, 20% have congenital heart disease (coarction of aorta)

32
Q

Klinefelter

A

47 XXY

- appear normal until puberty, hypogonadism, infertility, tall, male breast enlargement, behavioral problems

33
Q

XYY

A
  • pretty normal, sometimes taller
34
Q

XXX

A
  • no obvious increase in malformations
  • sometimes tall, some fertility problems
  • sometimes learning disabilities
35
Q

Cri du Chat

A
  • 5p-
  • shrill cry
  • microcephaly, round face, ocular hypertelorism, epicanthal folds, downslanting palpebral fissures, single transverse palmar crease, hyptotonia
  • Later: mental retardation, good survival
  • Do parental studies! –> determine carrier status to see if there was unfavorable segregation from parent with unbalanced reciprocal translocation
36
Q

Wolf-Hirshhorn

A
  • 4p-
  • microcephaly, frontal bossing, cleft palate/lip, micrognathia, seizures
  • survival is poor
  • Parental studies
37
Q

Prader-Willi

A
  • 60-70% with deletion on 15q paternal
  • In non-deletion cases, maternal UPD

hypotonia, mental deficiency, progressive obesity with compulsive eating, hypopigmentation

38
Q

Angelman

A
  • deletion on maternal 15 or paternal UPD
  • severe mental retardation, microcephaly, unprovoked laughther, hypopigmentation
  • With age: wide mouth, thin upper lip, widely spaced teeth
39
Q

Williams Syndrome

A
  • 7q- (includes gene for elastin)
  • elfin face, aortic stenosis, wide mouth, loquacious personality, music ability, stellate pattern of iris, developmental delay
  • Can only use FISH (parent chroms normal)
40
Q

Deletions 22q11.2 Syndromes

A
  1. DiGeorge: anormalities of thymus, hypocalcemia, heart defects
  2. Velocardiofacial Syndrome: cleft palate, tubular nose, heartdisease

CATCH-22: cardiac, abnormal facial, thymic aplasia, cleft palate, hypocalcemia, chrom 22

41
Q

Miller-Dieker Syndrome

A

17p13.3 deletion
Lissencephaly = smooth brain

  • developmental delay, hypertelorism, microcephaly
42
Q

Thalassemias

A

mutation in synthesis of specific Hb chains
leads to anemia

  • see Target RBCs
43
Q

Sickle Cell anemia

A

Single mutation Glu6–>Val

  • allows for hydrophobic interactions between B-subunits and sickling
  • lifespan 120 days to 17 days
  • polymerize at low O2 or during illnesses - “crisis”, painful :(
  • HbS –> curve shift right
44
Q

Microcytic Hypochromic Anemia

A

low MCV, MCH, MCHC

Causes: iron deficiency, thalassemia

45
Q

Macrocytic anemia

A

high MCV, vit B12 deficiency

46
Q

Normocytic normochromic anemia

A

normal MCV, MCH, MCHC

Causes: anemia of chronic disease, acute blood loss, hemolytic anemia

47
Q

What virus causes leukemia/lymphomas

A

HTLV-1 (human T cell lymphotrophic virus)

48
Q

What virus causes cervical and anogenital carcinomas

A

HPV

49
Q

What virus causes Burkitt’s lymphoma

A

Epstein-Barr Virus (EBV)

50
Q

What virus causes hepatocellular carcinoma

A

HCV, HBV

51
Q

erb B (EGFR)

A

80% squamous cell carcinoma of lung
80-100% of epithelial tumors of head and neck
50% glioblastomas

52
Q

Ras

A

90% pancreas

50% colon, thyroid

53
Q

Myc

A

c-Myc: Burkitt’s lymphoma
L-myc: small lung cell carcinoma
n-myc: neuroblastoma

54
Q

CML

A

(9;22) abl kinase, bcr regulator

55
Q

Burkitt’s lymphoma

A

(8; 14) c-myc, Ig regulator

56
Q

promyelocytic leukemia

A

(15;17)–> treat with ATRA

57
Q

myelomonocytic leukemia

A

inv(16)

58
Q

myeloblastic leukemia

A

(8;21)

59
Q

Ewing sarcoma

A

(11;22)

60
Q

Meningioma

A

Monosomy 22

61
Q

Retinoblastoma

A

del(13)(q14)

62
Q

alveolar rhabdomyosarcoma

A

t(2;13)

63
Q

synovial sarcoma

A

t(X;18)

64
Q

FA

A

chromosome instability syndrome
- inability to repair interstrand DNA crosslinks/translesional synthesis

  • lymphomas and leukemias
  • hyperpigmentation, triangular face, bone marrow failure
65
Q

Bloom Syndrome

A

RECQ helicase mutation, hyperrecombination
- Blm helicase has role in DNA ds break repair

*solid tumors, lymphomas
malar “butterfly” rash

66
Q

AT

A
  • mutation in ser/thr kinase involved in signal transduction of DNA damage signals to machinery, mutation in ATM gene
  • lymphomas
  • ability to repair DNA damage from ionizing radiation is impaired
67
Q

XP

A

NER pathway

malignancies of skin

CTMD LOMO (14 decks)

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