Ch 10: Diseases of Childhood/infancy Flashcards
What happens with exposure to cyclopamine?
Inhibits Hedgehog signaling
Leads to:
Holoproencephaly
Cyclopia
What happens with exposure to Valproic acid?
Reduced expression of HOX proteins, which are important for patterning of limbs, vertebrae, and craniofacial structures
Leads to: Limb mutations (similar to thalidomide)
What happens with exposure to Vitamin A deficiency?
All-trans retinoic acid is key for normal development
Leads to:
Eyes, GU, CV, diaphragm, lung probs
What happens with exposure to Vitamin A toxicity?
Too much inhibits TGF-B, important for palatogenesis
Leads to:
CNS and cardiac defects
Craniofacial defects = cleft lip/palate
How would you classify preterm?
Anytime before 37 weeks of gestation
What are the risk factors associated with preterm premature rupture of membranes?
Prior history of PPROM
Vaginal bleeding
Maternal smoking
Low SE status and poor maternal nutrition
What is the MOD behind PPROM?
Infectious agents activated TLR –> deregulate prostaglandin expression –> uterine smooth muscle contraction
What are some common infections seen with PPROM?
Ureaplasma urealyticum mycoplasma hominis Gardnerella vaginalis Trichomonas Gonorrhea Chlamydia
What can result with PPROM?
Gives rise to RDS, necrotizing enterocolitis, sepsis, intraventricular and germinal matrix hemorrhage
What gives rise to fetal infections and what sx do you see?
TRCH: Toxoplasmosis Rubella Cytomegalovirus Herpes virus
SX:
fever, encephalitis, chorioretinitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, vesicular or hemorrhagic skin lesions
What is neonatal RDS? What is the mechanism behind it?
It is a hyaline membrane disease
Commonly associated with preterm males, maternal diabetes, and C-section delivery
There is a lack of surfactant (SP-B and SP-C) production from type 2 pneumocytes, which is accelerated at week 35 of gestation
Lungs will collapse with each successive breath. compounded by soft thoracic wall that get pulled in as diaphragm recedes
What would you see in imaging with RDS?
CXR shows ground-glass infiltrates
What would you see on physical examination of lungs with RDS?
Collapsed alveoli
Necrotic cellular debris on autopsy that is incorporated with eosinophilic hyaline membranes lining bronchioles and alveoli
What are some immediate complications with RDS? What is the mechanism behind them?
Retrolental fibroplasia = retinopathy of maturity, VEGF level low then increase, which causes retinal vessel proliferation –> lesions
Bronchopulmonary dysplasia = inflammatory cytokines IL-1, TNF, IL-6, IL-8 may play a role
What are some long term complications with RDS?
Patent ductus arterioles
Intraventricular hemorrhage
Necrotizing enterocolitis
In who do you see necrotizing enterocolitis most commonly?
Pre mature infants (1 in 10 for very low birth weight)
How is necrotizing enterocolitis triggered?
It is multifactorial
Likely triggered by eating
No single bacterial pathogen has been linked
What is the mechanism behind necrotizing enterocolitis?
PAF (platelet activating factor) –> increases mucosal permeability by promoting enterocyte apoptosis and reducing intercellular tight junctions
What problems does necrotizing enterocolitis lead to in the GI tract?
Target terminal ileum, cecum, and right colon
Leads to distention
Mucosal or transmural coagulative necrosis, ulceration, bacterial colonization and submucosal gas bubbles
Often leas to strictures from fibrosis involved in healing process
How is necrotizing enterocolitis managed?
Most managed conservatively, some need bowel resection
What happens with exposure to Parovirus B19?
Common cause of transplacental infections
Commonly targets erythroid cells
Leads to: erythema infectious (face-slap rash)
What happens with exposure to Group B streptococcus?
Most common cause of early-onset perinatal sepsis and meningitis (within first 7 days of life)
What happens with exposure to Listeria and candida?
Most common cause of late-onset sepsis (7 days to 3 month)