pediatrics 3

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pediatrics 3
2013-02-28 19:49:07

spring 2013
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  1. which layer is affected if you have congenital scoliosis?
  2. 2 causes of congenital scoliosis (what's going on in the vertebrae)
    • vertebral formation failure: hemivertebrae or wedged vertebraevertebral
    • segmentation failure: the vert don't seperate properly --> a bar w
    • no growth plate or disk btwn vertebrate - it's a failure of
    • resegmentation of sclerotomes
  3. lat, ant, post vertebral deformities lead to what?
    • lat --> scoliosis
    • ant --> kyphosis
    • post --> lordosis
  4. some non-obvious signs of congenital scoliosis
    • patch of hair on back
    • midline skin hemangioma
    • congenital heart defects
    • kidney defects
    • LLD
  5. congenital scoliosis may co-exist w a syndrome such as VACTERL which stands for what?

    (you should memorize what each letter stands for)
    • V: vertebral abnormalities
    • A: anal atresia: anus doesn't open to outside of body
    • C: cardiac defects
    • T: tracheal anomalies (ex; tracheoesophageal fistula)
    • E: esophageal atresia; esophagus doesn't connect to stomach
    • R: renal
    • L: limb abnormalities (absent or displaced thumbs, polydactyly, syndactyly, a missing bone in arms or legs)(so if a kid has scoliosis, keep an eye out for this stuff)
  6. congenital scoliosis exists with what acronym of troubles?
  7. syndactyly
    webbed fingers (due to programmed cell death not happening right)most common limb anomaly
  8. what is the apical ectodermal ridge (AER)?
    apex (highest point) of each limb bud
  9. when does the AER appear for UE & LE?
    • ((apical ectodermal ridge - the apex of each limb bud))
    • UE limb buds appear at 4th week
    • LE limb buds appear 2 days later
  10. AER secretes what?
    fibroblast growth factor
  11. fibroblast growth factor - secreted by what? what does it do?
    • secreted by the AER (apical ectodermal ridge)
    • it induces limb growth
  12. disturbance of limb buds at 4th week, at 5th week, at 8th causes...
    • 4th: absent limb
    • 5th: partial limb formed
    • 8th: teratogens can't cause major limb deficiencies
  13. creating skeleton in the limbs... - as the limb lengthens ___ bone models undergo___ to form ___
    mesenchymal bone ... chondrification ... hyaline cartilage bone
  14. what's happening in the limbs at the end of week 7?
    end of week 7, entire limb is cartilaginous, and there's an embyonic skeleton
  15. when is the embryonic stage? what happens here?
    • weeks 3-8organogenesis (organs develop)bc new structures are
    • developing rapidly, this is a very vulnerable time for the embryo, and
    • this is unfortunate, since at this stage lots of ladies don't even
    • realize they're pregnant
  16. chromosomes, the healthy numbers cells should contain
    • 46 chromosomes - 23 pairs
    • 22 pairs are autosomes (body)
    • 1 pair are the gender (xx = girl, xy = boy)
  17. three parts of a chromatid
    • p: the short arm
    • q: the long arm
    • centromere: the middle part, joining the p to q and the chromatid to a sister chromatid
  18. how to number bands on a chromosome
    the higher numbers are further from the centromere
  19. 46XXdel(14)(q23) means what?
    there's a girl with 46 chromosomes but a deletion of band 23 on the long arm chromosome 14
  20. 47, XY, +21 means what?
    boy with 47 chromosomes, trisomy of chromosome 21
  21. non-disjunction error
    • failure of chromosome pairs to separate properly during cell division -- either the homologous chromosome or sister chromatids fail to separate
    • happens during meiosis or mitosis
  22. global developmental delay
    • delay in achieving 2 or more developmental milestones
    • motor
    • speech
    • cognition
    • social
    • emotional
  23. syndromes due to numerical abnormalities caused by non-disjunction errors
    • Turner's: 45X
    • Kleinfelter: 47XXY
  24. de novo abnormalities
    • neither parent has the abnormal gene
    • (as opposed to inherited abnormalities)
  25. 3 syndromes w de novo structural abnormalities
    • Cri-du-Chat: del chrom 7
    • Prader Willi: parental del chrom 15
    • Angelman: maternal del chrom 15
    • Williams: del chrom 7
  26. hypotonia - list of diseases associated with this
    • genetic syndromes
    • neuro diseases
    • endocrine disorders
    • metabolic diseases
    • down syndrome
    • cerebral palsy
    • spinal muscle atrophy
    • and of course, idiopathic
  27. characteristics of hypotonia
    • decreased strength
    • delayed motor skill development
    • poor attention/motivation
    • decreased activity tolerance
    • hypermobile joints - increased flexibility
    • tendancy to lean on supports
    • rounded shoulders
  28. autosomal dominant disorders - def and 3 examples
    • a mutated or abnormal gene from one parent overrides/dominates the matching gene from the other parent
    • osteogenesis imprfecta
    • congenital myotonic dystrophy
    • neurofibromatosis
  29. biochemical disorders
    • metabolism errors caused by metabolic enzyme deficiencies
    • phenylketonuria
    • lysosomal storage diseases
  30. autosomal recessive disorders - def and 4 examples
    • recessive mutated gene is inherited from both parents
    • typically neither parent is affected

    • cystic fibrosis
    • sickle cell
    • spinal muscle atrophy biochemical disorders
  31. sex linked disorders def, and 2 categories
    • associated with the X chromosome
    • x-linked recessive: only males are affected, females are carriers
    • x-linked dominant: m & f get it
  32. 2 x-linked dominant syndromes
    • Fragile X syndrome
    • Retts Syndrome
  33. Retts Syndrome - what kind of syndrome? who gets it?
    • X-linked dominant
    • almost exclusively females
  34. Retts Syndrome - it's a mutation on the x chromosome of what gene?
    MECP2, which regulates other proteins involved with brain maturation
  35. how will a kid with Retts Syndrome look in early infancy / when will the symptoms present?
    normal, until MeCP2 regulation is needed at 6-18 months, and the the dev suddenly declines
  36. 2 ways to diagnose Retts?
    • positive blood test for presence of mutation
    • meets diagnostic criteria (has the clinical pic)
  37. 2 ways Retts presents opposite from Autism
    • Retts: prefers people to objects
    • Retts: enjoys affection
  38. what clue would make you think a girl has Retts?
    • she seems autistic
    • (tho the Retts girl will prefer people to objects, and she'll be affectionate)
  39. head growth in a girl with Retts Syndrome?
    • normal circumference at birth
    • then, slowing of rate of head growth at 2-4 months of age
  40. Retts Syndrome - essential diagnostic criteria include normal dev til 6-18 months, head growth slows at 2-4 months, and what 3 other symptoms
    • MR
    • gait abnormalities
    • stereotypic hand movements (wringing, washing, clapping, bumping...)
  41. Retts Syndrome stage I
    • between 6-18 months
    • subtle slowing of development
    • delays in gross motor
    • less eye contact
  42. Retts Syndrome stage II timing and real basic description
    • 1-4 years
    • gradual loss of acquired skills (loses communication skills & purposeful use of her hands)
  43. 6 features of Retts Syndrome in stage II
    • autistic like: loss of spoken language and social interaction
    • loss of purposeful hand movement: can't feed, gets stereotypic hand motions
    • gait abnormalities: wide BOS, toe walking, ataxia
    • slowed head growth: --> microcephaly
    • behavior disturbances:
    • tremors: .
  44. Retts Syndrome stage III - when?
    • 2-10 yrs, can last for many years or lifetime
    • can be a plateau
  45. Retts Syndrome stage III -- 6 prominent features
    • apraxia
    • seizures
    • communication skills may improve
    • motor difficulties
    • mod to severe MR
    • hyperventilation & breath holding
  46. Retts Syndrome stage IV - the stage's nickname?
    motor deterioration
  47. Retts Syndrome stage IV - features
    • reduced mobility
    • muscle weakness
    • rigidity, spasticity, dystonia
    • neuromuscular scoliosis
    • cognition, communication, hand skills typically don't decline
  48. life expectancy w Retts Syndrome
    uncertain beyond 40 yrs
  49. why do many Retts Syndrome gals get femoral fx
  50. what percent of Retts Syndrome girls get scoliosis by 13 y/o?
    • 75%
    • so conduct a physical exam for this and educate the parents!
  51. mitochondrial disorders come from who?
    the mohter, bc the zygote gets all its mitochondria from the egg
  52. clinical features of mitochondrial disorders
    • CNS & muscle affected bc of large amounts of mitochondria in their tissue
    • myopathies, gen weakness, decreased balance
    • exercise intolerance
    • encephalopathy
    • retinal degen