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COM - MOD 2 > Chapter 10 Slides - Dobson > Flashcards

Chapter 10 Slides - Dobson Flashcards

1
Q

What is the classic example of a sequence?

Due to what?

A

Potter sequence

Oligohydramnios

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2
Q

What is the characteristic morphological feature of Potter syndrome?

A

Amnion nodosum

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3
Q

What does the TORCH mneumonic stand for?

A 
Toxoplasmosis
Other - syphillis
Rubella
CMV
Herpes
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4
Q

Babies with short arms and short legs are exposed to what?

A

Thalidomide

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5
Q

When is the embryo susceptible to teratogens?

When is the peak sensitivity?

A

Weeks 3-9

Weeks 4-5

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6
Q

What defines prematurity?

A

Gestational age less than 37 weeks

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7
Q

What are the risk factors associated with prematurity?

A

PROM
Intrauterine infections
Structural abnormalities
Multiple gestation

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8
Q

What are some causes of fetal growth restriction (FGR)?

A 
Fetal abnormalities
Placental abnormalities - ch. 22
Maternal abnormalities (AAS)
IUGR
SGA
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9
Q

What are the strong associations with RDS?

A

Male gender
Maternal diabetes
C-section

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10
Q

What is the major morphological feature of RDS?

A

Cyanosis, rales, ground glass xray

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11
Q

What hormones and GFs are responsible for surfactant synthesis?

A

PICTT

Cortisol
Insulin
Prolactin 
Thyroxine
TGF-B
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12
Q

What are the 2 complications of prolonged therapy for RDS?

A

Retrolental fibroplasia (ROP) -> VEGF

BPD -> proinflammatory cytokines

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13
Q

What inflammatory mediator is common in NEC?

A

PAF

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14
Q

What is the most common sign of NEC in patients?

A

Pneumatosis intestinalis

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15
Q

When should Rhogam be administered?

A

28 weeks
Within 72 hours of delivery
After abortions

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16
Q

What are the main consequences of immune hydrops?

A

Anemia

CNS -> kernicterus

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17
Q

What are the 3 major etiologies of non-immune hydrops?

A 
Cardiovascular defects
Chromosomal anomalies (Turner, down, Edwards)
Fetal anemia
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18
Q

What is the major morphologic feature of fetal hydrops of liver?

A

Extra medullary hematopoiesis (precursors rbc’s)

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19
Q

PKU is what kind of disorder?

What enzyme deficiency?

A

Autosomal recessive

Phenylalanine hydroxylase (PAH)

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20
Q

What is the key sign to PKU?

A

Musty or mousy odor of urine

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21
Q

What are the major clinical consequences of PKU?

A

Mental retardation by 6 months

Seizures, decreased pigmentation, eczema

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22
Q

What kind of disorder is galactosemia?

Accumulation of what?

A

Autosomal recessive

Galactose-1-phosphate in tissues

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23
Q

What are the major systems affected by galactosemia?

A

Liver -> cirrhosis
Eye, galactolol -> opacification of lens
Brain -> loss of nerve cells, gliomas, edema

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24
Q

What are the clinical features associated with galactosemia?

A 
Failure to thrive
GI - vomit and diarrhea
Eye - cataracts 
Mental retardation - 6-12 mo
Kidney - aminoaciduria

E.coli

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25
Q

Cystic fibrosis is most lethal genetic disease to whom?

What is the carrier frequency?

A

Crackers (Caucasians)

1 in 20

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26
Q

What is the class II defect in cystic fibrosis?

What % of patients?

What mutation?

A

Abnormal protein folding, processing, and trafficking

70%

Deletion of F508

27
Q

What is the Class I defect in cystic fibrosis?

A

Defective protein synthesis

Complete LACK of CFTR protein at apical surface

28
Q

What is the classic feature of cystic fibrosis?

A

Pancreatic insufficiency, cannot make the enzymes

29
Q

Is cystic fibrosis a loss of exocrine or endocrine pancreas?

Leads to what?

A

Exocrine leaving only the islets within a fibrofatty stroma

Squamous Metaplasia of the lining epithelium of the ducts in the pancreas
Meconium ileus

30
Q

What is the neonatal period?

Infancy?

A

First 4 weeks of life

1st year of life

31
Q

What kind of solution in sweat ducts with CFTR mutation?

Extra NaCl where?

A

Hypertonic

Lumen

32
Q

What kind of solution in airway of CFTR mutation?

Excess NaCl where?

Result?

A

hypotonic

Epithelial cells

Dehydrated, viscid mucus

33
Q

What are the 3 most common organisms responsible for lung infections?

A

Staph aureus
Haemophilus influenzae
Pseudomonas

34
Q

Definition for primary errors of morphogenesis in which there is an intrinsically abnormal developmental process?

A

Malformation

35
Q

What is an extrinsic disturbance of development called? Can be due to localized or generalized compression of the growing fetus.

A

Deformation

36
Q

What results from secondary destruction of an organ or body region that was previously normal in development, and arise from extrinsic disturbance in morphogenesis?

A

Disruptions

37
Q

Uterine constraint is a type of what?

What is an example?

A

Deformation

Potter syndrome

38
Q

What are congenital heart defects and anencephaly examples of?

A

Malformations

39
Q

Amniotic bands are an example of what?

A

Disruption

40
Q

What are the 3 overlapping factors in SIDS pathogenesis?

A

Vulnerable infant
Critical development in homeostatic control
Exogenous stressor

41
Q

What are some environmental stressors for SIDS?

A

Prone/side sleeping positions
Sleeping with parents first 3 months
Sleeping on soft surfaces
Thermal stress

42
Q

What are 3 organs in SIDS cases where petechiae are found?

A

Lungs
Thymus
Heart

43
Q

What are normal cells in an abnormal location called?

A

Heterotopia (choristoma)

44
Q

What is an excessive focal overgrowth of tissue native to the organ called?

A

Hamartoma

45
Q

What kind of hemangiomas may occur?

Aka what?

A

Capillary and cavernous

Port-wine stain

46
Q

Sacrococcygeal teratomas are more common in whom?

A

Females to males (4 to 1)

47
Q

What gene is implicated in familial neuroblastic tumors?

A

ALK

48
Q

What is the characteristic clinical presentation in children with neuroblastomas?

A

Large abdominal mass

Blueberry muffin baby

Under 2 y.o.

49
Q

Where do 40% of neuroblastomas arise in childhood?

A

Adrenal medulla

50
Q

What is the most important diagnostic feature of neuroblastomas?

What is elevated in urine levels?

A

Produce catecholamines

VMA and HVA

51
Q

What characteristic histological features are found in neuroblastomas?

A

Neuropil

Homer-Wright pseudorosettes

52
Q

Amplification of what in neuroblastomas has the most profound and negative impact on prognosis?

A

MYCN oncogene

53
Q

Wilms tumor is a primary what?

When is the peak incidence?

A

Primary renal tumor of childhood

Between 2-5 year of age

54
Q

WAGR syndrome has what risk with Wilms tumor?

What clinical features?

A

33%

Wilms tumor
Aniridia
Genital anomalies
Mental Retardation

55
Q

What associated deletion is found in WAGR?

What genes are affected with what development?

A

Germline deletion of 11p13

WT1
PAX6 - eyes, brain, sc, pancreas

56
Q

What is the risk for Wilms in Denys-Drash syndrome?

What is the mutation?

A

90%

Dominant-negative missense mutation in zinc-finger region of WT1 protein

57
Q

What are the clinical features of Denys-Drash?

A

Gonadal dysgenesis (male pseudohermaphrodism)

Early onset neuropathy and renal failure

58
Q

Beckwith-Wiedmann syndrome has what clinical features?

A 
Organomegaly
Macroglossia
Hemihypertrophy 
Omphalocele
Adrenal cytomegaly
59
Q

Beckwith-Wiedmann is an example of what?

What chromosome?

What other mutations?

A

Genomic imprinting

11

CDKN1C and beta catenin GOF

60
Q

What is the characteristic morphological findings in Wilms tumor?

A

Tan-to-gray color
Well-circumscribed margins
Can have necrosis, cysts, or hemorrhage

61
Q

What is the morphology of Wilms tumor?

A

Tri phasic combination
Blastemal small blue cells
Stromal
Epithelial tubules

62
Q

5% of Wilms tumors show what?

A

Anaplasia -> TP53 mutation

63
Q

What are the general clinical features of Wilms tumor?

A

Present with large abdominal mass across midline or pelvis

Hematuria, pain, bowel obstruction, HTN

64
Q

What mutations are associated with poor prognosis of Wilms tumor?

A

Loss of genetic material ch. 11 and 16

Gain of chromosome 1q in tumors

COM - MOD 2 (3 decks)

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