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Alya Cards Pathology Robbins basis > Ch 10 > Flashcards

Ch 10 Flashcards

1
Q

What is a congenital malformation?

A

Primary error of morphogenesis - can be single gene, usually is multifactorial

Eg congenital heart defect, anencephaly

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2
Q

What is a congenital disruption?

A

Secondary destruction of organ that was previously normal . Not heritable. Eg amniotic band disrupting morphogenesis in foetus.

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3
Q

What is a deformation?

A

Extrinsic cause leading to disturbance to normal development eg uterine constriction

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4
Q

What is a sequence?

A

A cascade of abnormalities triggered by one initiating aberration eg oligohydramnios (Potter Sequence)–> fetal compression –> altered facies, breech, pulmonary hypoplasia

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5
Q

What is malformation syndrome?

A

A constellation of congenital anomalies secondary to a single agent eg viral infection

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6
Q

What is agenesis?

A

Complete absence of organ and associated primordium

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7
Q

What is aplasia?

A

Absence of organ due to failure of growth primordium

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8
Q

What are the 2 phases on intrauterine development?

A
  1. Embryonic period (first 9 weeks)
  2. Fetal period (finishes after birth)
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9
Q

What is the ‘early embryonic’ period?

A

First 3 weeks after fertilization

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10
Q

What is the teratogenesis period (foetus most susceptible to major congenital abnormalities)?

A

3-9 weeks

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11
Q

What is cyclopramine and what effects does it have to the foetus?

A

Plant teratogen found in corn lily. Inhibits hedgehog signalling and leads to cyclopia/holoproencephaly

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12
Q

What is the effect of valproic acid on the developing foetus?

A

Disrupts Homeobix (HOX) signalling. Involved in patterning of limbs: vertebrae, craniofacial abnormalities

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13
Q

What is the effect of excessive Vitamin A (Retinol/Retinoid acid) on developing foetus?

A

Deregulated TGFB.

CNS, cardiac, craniofacial/cleft lip/palate

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14
Q

What is an example of transcervical infection to fetus?

A

Herpes simplex II

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15
Q

How does the foetus acquire an infection from cervix/vagina?

A

1.Through birth canal
2. Inhales amniotic fluid into lung preterm

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16
Q

What is an example of transplacental/hematologic infection?

A

Toxoplasmosis, Treponema, Listeria, malaria

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17
Q

What are the TORCH infections?

A

Toxo
Other (Syphilis, varicella, Parvo B19)
Rubella
Cytomegalovirus
Herpes

18
Q

What are the clinical manifestations of TORCH infections?

A

Fever
Encephalitis
Chorioretinitis
Hepatosplenomegaly
Pneumonitis
Myocarditis
Haemolytic anemia
Haemorrhagic skin
Growth restriction later in life

19
Q

What is ‘Fifths disease’ or Erythema infectiosum?

A

Parvovirus B19 infection

20
Q

Bone marrow of foetus. Dx

A

Parvo B19 infection - viral inclusion rim to erythroid progenitors

21
Q

What are the usual causes of assymetric growth restriction?

A

Placental
Maternal

(Infections, genetic or erythroblastosis causes SYMMETRIC restriction)

22
Q

What are the risk factors of SIDS (Sudden Infant death syndrome)?

A

Age of child (1mo-1yr)
Low SES
Gender (Male)
Absence of abnormal anatomy

23
Q

What histologic finding would be seen in CF?

A

Mucous plugging

24
Q

What is Hyaline membrane disease?

A

Insufficient Type II alveolar cell surfactant production

25
Q

Deficiency in galactosemia?

A

Galactose-1-phosphate uridyl transferase

26
Q

What findings in galactosemia?

A

Liver damage (pancreas is normal)

27
Q

What makes a neuroblastoma worse prognosis?

A

N-myc amplification

28
Q

Presentation of a neuroblastoma in child?

A

Fever
Weightloss
Abdominal mass (on adrenals)
Urine homovanillic acid

29
Q
A

Lymphangioma

30
Q
A

Teratoma (benign)

31
Q

How does oligohydramnios cause respiratory distress?

A

Lung hypoplasia (small)

32
Q

When does Hyaline membrane disease occur?

A

Birth before 35 weeks

33
Q

What tests on amniotic fluid can help assess lung maturity? 3

A

Lamellar body counts
Lecithin-sphingomyelin ratio
Florescence polarization

34
Q

Which infection can lead to heart defects?

A

Rubella

35
Q

What are the complications of erythroblastosis?

A

Anaemia
Heart failure
SYMMETRIC growth restriction

36
Q

When do type II pneumocytes differentiate?

A

Week 26

37
Q

What 2 compounds reduce surfactant surface tension?

A

Phosphatidylcholine and phosphotidylglycerol

38
Q

What maternal risk factor can increase risk of hyaline membrane disease?

A

Gestational diabetes

39
Q

Port wine stain is composed of

A

Capillaries

40
Q

Large renal tumours (Wilms) are associated with which syndrome

A

Beckwidth-Widemann

41
Q

Chorioamnionitis is likely caused by

A

Bacterial (usually strep)

42
Q

Complications associated with galactosemia?

A

E.coil septicemia (unknown reason)
Cataracts

Alya Cards Pathology Robbins basis (12 decks)

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