Disease Infancy Flashcards
Describe
Malformation, disruption, deformation
Malformation- problem of morphogenisis
Disruption- destruction of region that was normal
Deformation- compression/outside force leading to abnormal structure development
Fetal Alcohol syndrome
No philtrum Up-turned/long nose Short cognitive delays Low birth weight
Embryo vs fetus
Embryo= 3-8 weeks
Fetus 8-38
Most common cause of neonatal mortality?
Scale?
Prematurity- less than 37 weeks
Extreme- less than 28
Very- 28-32
Moderate or late- 32-37
Risk factors/ causes of prematurity(4)
Possible dangers/disease
Premature rupture or membrane
Uterine infection
Placenta/uterus abnormality
Multiple gestation
Respiratory distress syndrome
Necrotizing enterocolitis
Sepsis
Hemorrhage
Respiratory distress syndrome
Alternating atelectasis(collapse) and dilation of alveoli. Decreases pulmonary surfactant
Seen with hyaline membranes
Ground glass x-ray
L/S ratio in amniotic fluid- want above 2 for lung maturity
Give glucocorticoids to mother to help stimulate baby growth of surfactant.
Necrotizing enterocolitis
Ileum, cecum, right colon
Distended, friable, gangrenous
Seen in exray with large bubble along intestine.
Surgery repair may cause later malabsorption due to shortening of digestive tract
Two routes for perinatal infection
Transcervial
Transplacental
Fetal Hydrops vs Cystic hygroma
Hydrops- fluid accumulation in multiple compartments(pleural,peritoneal,skin)
Cystic hygroma-one space(neck- turners syndrome)
Fetal Hydrops
Immune vs nonimmune
Immune- Rh factor
- type 2 hypersensitivity
- RBC breakdown= kernicturus, erthryroblastosis fetalis
Nonimmune
- cardiovascular defect
- chromosomes(45X, trisomy 21,18)
- Fetal anemia (thalassemia)
PKU
Affect pregnancy?
Can’t make phenylalanine into tyrosine(phenylalanine hydroxilaze)
Retardation, albinism, musty odor
Excess phenylalanine can affect child due to metabolites/excess crossing placenta(stay on diet)
Galactosemia
Accumulate Galactose-1- phosphate (GALT or galactokinase deficiency)
Liver damage, cataracts, CNS damage,
Cystic fibrosis
Most common lethal genetic disease in Caucasian.
Commonly protein folding mutation= proteosome degradation)
Recurrent infection, pancreatic insufficiency, malnutrition, make infertility.
Meconiun illeus-plugged intestine due to impaired fat absorption, mucus in Small intestine
Common CF infections
Staph aureus, haemophilus influenzas, paeudomonus aerogenosa.
Opportunistic B. Cenocepacia
Heterotopia vs hamartoma
Heterotropia- normal cells in abnormal location
Hamartoma- excess overgrowth of tissue in native organ
Neuroblastoma
Stats, mutation, appearance, chemical marker
Most common extracranial solid tumor of childhood.
MYC gene amplification
Large abdomen, age 2, “blueberry muffin” baby.
High chance of metastasis
Increase catecholamine production (90%)
LLBB
What is it?
Lymph, liver, brain ,bone
Metastasis sites
Wilms tumor
Chromosome associations?
Large abdomen mass. Kidneys
Hematuria, hypertension
blastemal, stromal and epithelium cells.
Common p53 mutation.
WAGR, Denys-Drash syndrome, Beckeith-Wiedeman
WAGR
Where? Mechanism?
Deletion chromosome 11p13
Wilms tumor- WT1
PAX6- eye, brain, spine,pancreas
Androids, Genital abnormal, mental retard, wilms tumor
Denys-Drash
Gonadal dysgenesis (male laeudohermaphratism) Early nephropathy- wilms Gonadoblastoma
Beckwith-Wiedemann
Organometallic, macroglossia, omphalocele(intestine sac outside body)
Chromosome 11p15.5
Increase liver, pancreas, adrenal, muscle and kidney cancers
Agenesis
Aplasia
Atresia
Agenesis - absence of organ and primordium
Aplasia- failure of organ after having primordium
Atresia- absence of opening (esophagus, trachea, Anal.
Potter sequence is????
Syndrome due to oligohydramniosis
Flat facies
Abnormal hands/feet
Dislocated hips
Small lungs
