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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
Cystic fibrosis is most lethal genetic disease to whom? What is the carrier frequency?
Crackers (Caucasians) 1 in 20
26
What is the class II defect in cystic fibrosis? What % of patients? What mutation?
Abnormal protein folding, processing, and trafficking 70% Deletion of F508
27
What is the Class I defect in cystic fibrosis?
Defective protein synthesis Complete LACK of CFTR protein at apical surface
28
What is the classic feature of cystic fibrosis?
Pancreatic insufficiency, cannot make the enzymes
29
Is cystic fibrosis a loss of exocrine or endocrine pancreas? Leads to what?
Exocrine leaving only the islets within a fibrofatty stroma Squamous Metaplasia of the lining epithelium of the ducts in the pancreas Meconium ileus
30
What is the neonatal period? Infancy?
First 4 weeks of life 1st year of life
31
What kind of solution in sweat ducts with CFTR mutation? Extra NaCl where?
Hypertonic Lumen
32
What kind of solution in airway of CFTR mutation? Excess NaCl where? Result?
hypotonic Epithelial cells Dehydrated, viscid mucus
33
What are the 3 most common organisms responsible for lung infections?
Staph aureus Haemophilus influenzae Pseudomonas
34
Definition for primary errors of morphogenesis in which there is an intrinsically abnormal developmental process?
Malformation
35
What is an extrinsic disturbance of development called? Can be due to localized or generalized compression of the growing fetus.
Deformation
36
What results from secondary destruction of an organ or body region that was previously normal in development, and arise from extrinsic disturbance in morphogenesis?
Disruptions
37
Uterine constraint is a type of what? What is an example?
Deformation Potter syndrome
38
What are congenital heart defects and anencephaly examples of?
Malformations
39
Amniotic bands are an example of what?
Disruption
40
What are the 3 overlapping factors in SIDS pathogenesis?
Vulnerable infant Critical development in homeostatic control Exogenous stressor
41
What are some environmental stressors for SIDS?
Prone/side sleeping positions Sleeping with parents first 3 months Sleeping on soft surfaces Thermal stress
42
What are 3 organs in SIDS cases where petechiae are found?
Lungs Thymus Heart
43
What are normal cells in an abnormal location called?
Heterotopia (choristoma)
44
What is an excessive focal overgrowth of tissue native to the organ called?
Hamartoma
45
What kind of hemangiomas may occur? Aka what?
Capillary and cavernous Port-wine stain
46
Sacrococcygeal teratomas are more common in whom?
Females to males (4 to 1)
47
What gene is implicated in familial neuroblastic tumors?
ALK
48
What is the characteristic clinical presentation in children with neuroblastomas?
Large abdominal mass Blueberry muffin baby Under 2 y.o.
49
Where do 40% of neuroblastomas arise in childhood?
Adrenal medulla
50
What is the most important diagnostic feature of neuroblastomas? What is elevated in urine levels?
Produce catecholamines VMA and HVA
51
What characteristic histological features are found in neuroblastomas?
Neuropil Homer-Wright pseudorosettes
52
Amplification of what in neuroblastomas has the most profound and negative impact on prognosis?
MYCN oncogene
53
Wilms tumor is a primary what? When is the peak incidence?
Primary renal tumor of childhood Between 2-5 year of age
54
WAGR syndrome has what risk with Wilms tumor? What clinical features?
33% Wilms tumor Aniridia Genital anomalies Mental Retardation
55
What associated deletion is found in WAGR? What genes are affected with what development?
Germline deletion of 11p13 WT1 PAX6 - eyes, brain, sc, pancreas
56
What is the risk for Wilms in Denys-Drash syndrome? What is the mutation?
90% Dominant-negative missense mutation in zinc-finger region of WT1 protein
57
What are the clinical features of Denys-Drash?
Gonadal dysgenesis (male pseudohermaphrodism) Early onset neuropathy and renal failure
58
Beckwith-Wiedmann syndrome has what clinical features?
``` Organomegaly Macroglossia Hemihypertrophy Omphalocele Adrenal cytomegaly ```
59
Beckwith-Wiedmann is an example of what? What chromosome? What other mutations?
Genomic imprinting 11 CDKN1C and beta catenin GOF
60
What is the characteristic morphological findings in Wilms tumor?
Tan-to-gray color Well-circumscribed margins Can have necrosis, cysts, or hemorrhage
61
What is the morphology of Wilms tumor?
Tri phasic combination Blastemal small blue cells Stromal Epithelial tubules
62
5% of Wilms tumors show what?
Anaplasia -> TP53 mutation
63
What are the general clinical features of Wilms tumor?
Present with large abdominal mass across midline or pelvis | Hematuria, pain, bowel obstruction, HTN
64
What mutations are associated with poor prognosis of Wilms tumor?
Loss of genetic material ch. 11 and 16 Gain of chromosome 1q in tumors

COM - MOD 2 (3 decks)

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