Ped Path Flashcards by Jordan Jacobsen

Disruption

Extrinsic, mechanical force altering the development

How well did you know this?

Not at all

Perfectly

Deformation

Extrinsic, biomechanical force altering development

How well did you know this?

Not at all

Perfectly

Malformation

Intrinsic/genetic force altering development

How well did you know this?

Not at all

Perfectly

Malformation: epidemiology

Idiopathic: 60%
Multifactorial: 25%
Chromosomal abnormalities: 10-15%
Maternal disease states: 6-8%
TORCHES: 2-3%

How well did you know this?

Not at all

Perfectly

Viral susceptibility: time frame

From just before conception - 16 weeks

How well did you know this?

Not at all

Perfectly

Alcohol as a teratogen

Disrupts signaling of retinoic acid and sonic hedgehog

How well did you know this?

Not at all

Perfectly

Thalidomide teratogenicity

Upregulates WNT suppressors

How well did you know this?

Not at all

Perfectly

Nicotine effect on fetus

SGE, prone to SIDS

How well did you know this?

Not at all

Perfectly

Maternal diabetes effects

Hyperglycemia -> fetal hyperinsulinemia -> acts as GF increasing both size and rates of organ abnormalities

How well did you know this?

Not at all

Perfectly

Sensitive period

3-8 weeks

- neurulation occurs earliest and has greatest susceptibility

How well did you know this?

Not at all

Perfectly

Cyclopamine

Screws with sonic hedghog, can result in sever NTDs

How well did you know this?

Not at all

Perfectly

Valproic acid as a teratogen

Causes mutations in the HOX genes

How well did you know this?

Not at all

Perfectly

Vitamin A (retinol)

It’s essential for organogenesis, but too much can result in retinoic acid embryopathy. May be associated with messed up TGF-B

How well did you know this?

Not at all

Perfectly

Gestation time: risk factors for early parturition

Prematurity is the second leading cause of infant mortality.

premature rupture of membranes and intramniotic infection are common causes
structural abnormalities
multiple gestations

How well did you know this?

Not at all

Perfectly

Risk factors for newborns

Weight trumps appropriateness for age

How well did you know this?

Not at all

Perfectly

Fetal growth restrictions; fetal and maternal factors

maternal factors: hypertension, preeclampsia, hypercoagulable states
fetal (represented by symmetric abnomalities) and placental (represented by asymmetric abnormalities) factors also play a role.

How well did you know this?

Not at all

Perfectly

Risks for preterm infants (5); 2 organ systems, 2 systemic risks

Hyaline membrane disease
Necrotizing enterocolitis
Sepsis 
Intervenous hemorrhage 
Long term complications

How well did you know this?

Not at all

Perfectly

Neonatal RDS: etiology, risk factors (3)

Etiology: underdeveloped lung tissue -> little/no surfactant ->contributing to hyaline membrane disease
- male, c-section, maternal diabetes risk factors

How well did you know this?

Not at all

Perfectly

Surfactant A/B vs. C/D

A/B - immune function: innate defense
C/D - reduction in surface tension
- surfactant controlled by SFTPB/SFTPC

Chemical mediators if surfactant

TGF-B and corticosteroids stimulate it

Insulin inhibits it

Bronchopulmonary dysplasia

Rare in infants over 1200 g

high lvls of O2 contribute to development
inflammatory cytokines increase
if they survive past 4 days recovery can be expected at ~ 31 weeks.

Transcervical vs. transpalacental infections

Transcervical: mostly bacteria (some viruses like HSVII). In fetus infections is typically respiratory (inhaled amniotic fluid) and sepsis
- transplacental: most parasites, TORCHES viruses, listeria, treponema pallium

TORCH effects

Fever, encephalitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, vesicular damage, and hemorrhagic skin lesions

Immune hydrops

aka hemolytic disease of the new born. Can result in anemia, kernicterus, or hydrops from cardiac decompensation
The D antigen is the major cause of Rh incompatibility
occurs only after significant trans-placental bleeding
administration of Anti Ab Ig happens at 28 weeks to prevent sensitization, and again within 72 hours of delivery.

PKU

- Most commonly it the Absence of phenylalanine hydroxylase-> accumulation of Phe - it may also be reduced TH4 (phe doesn't get oxidized to tyrosine) this form will not be treated by reducing phe intake. - control of maternal PKU is ESSENTIAL during pregnancy. Elevated Phe lvls are devastating to baby.

Galactosemia

- primarily a deficiency of GALT - leads to the G-1-P accumulates and is toxic. (Cataracts and DD are two giveaways) - hepatomegaly happens early, FTT is also early - may also have frequent E. coli septicemia - trt by removing galactose from diet

Cystic fibrosis

- CFTR gene mutation -> bad chloride channels as well as ENaCs, and k channels - channels are cAMP mediated - the sweat gland ENaC channels aren't CFTR controlled, resulting in high sodium AND high chloride sweat - decreased luminal pH from lack of Bicarbonate transport contributes to obstructions

6 classes of CF

I. Defective protein synthesis II. Abnormal protein folding: most common (delta F508) III. Defective regulation IV. Decreased conductance V. Reduced abundance VI. Altered regulation of separate ion channels - types I,II and III are the most

Phenotypic differences among CF PTs.

TGF- B and MBL are both influenced by the CFTR gene and are involved in innate immunity.

Heterotropia

Heterotrophic tissue is normal tissue in a an abnormal place - lipoma - hamartoma

Anaplastic lymphoma kinase (ALK-1)

The major cause of neuroblastomas

Homer-wright pseudorossets

Small, scant cytoplasm containing cells compacted in a tumor represent a histologically classical neuroblastoma

Ganglioma

Similar to Neuroblastoma accept the ganglioma contains mature ganglion cells

Schwannian stroma

Represents a more favorable prognosis

Neuroblastoma prognosis

Age and stage are most important prognostic factors - 18 mo is the turning point Amplification of the N-MYC gene is the most important independent factor

N-MYC in neuroblastomas

Hemizigous deletion of distal short arm found in 25-35% of primary tumors Partial gain of distal long arm is present in up to 50% of tumors

Wilms tumor

- renal tumor that typically occurs from Age 2-5 up to about age 9 - follows two hit hypothesis - WAGR syndrome has higher risk of developing the Wilms tumor

Denys-drash syndrome

- male pseudohermaphroditism - early onset neuropathy - Germ line abnormalities in WT1 gene (biallelic activation)

WT-1

Gene associated with development of Wilms tumor

Beckwith-weiderman syndrome

- organomegaly - microglossia - hemihypertrophy - gene abnormality near locus of WT-1: Associated with Wilms tumor

IGF-2

Paternally imprinted insulin like growth factor | - when its over expressed can lead to development of Wilms tumor

Nephrogenic rests

Putative precursor lesions to a Wilms tumor | - Associated with some unilateral Wilms tumors and almost all bilateral Wilms tumors

Oxygen toxicity

Contribute to Bronchopulmonary dysplasia

Frequent early E. coli septicemia

May indicate Galactosemia, Especially if accompanied by failure to thrive

Male, c-section, maternal diabetes

Risk factor for neonatal RDS

Symmetric vs. asymmetric fetal abnormalities

Symmetric: fetal factor Asymmetric: placental factor

Maternal fetal growth restrictions

It's all about blood flow: HTN, hypercoagulable states