Pediatric Path and Lab Flashcards
What are the top 4 causes of death for infants (<1yr) from most to least common?
congenital anomaly, prematurity, SUID/SIDS, maternal pregnancy complications
What are the top 4 causes of death for children (1-4yr) from most to least common?
accidents and adverse events, congenital anomaly, malignancy, homicide
What are the top 4 causes of death for children (5-14yr) from most to least common?
accidents and adverse events, malignancy, homicide, congenital anomaly
What are the top 4 causes of death for teens (15-19yr) from most to least common?
accidents and adverse events, homicide, suicide, and malignancy
What are congenital anomalies? What are the many causes?
morphological defects present at birth, because born with defect does not imply nor exclude a genetic basis for birth defect; malformation, deformation, disruption, syndrome, and sequence
What is malformation and the causes?
intrinsic abnormality, multifactorial- genetic aberrations, early teratogens, infections (CMV, syphilis), and maternal disease
What is a deformation and the causes?
extrinsic abnormality, mechanical factors, localized or generalized compression of growing fetus, ex- uterine constraint due to leiomyoma or oligohydramnios
what is a disruption? example?
destruction of previously formed normal structures, amniotic band amputating a digit
What is a syndrome? cause? examples?
constellation of multiple anomalies secondary to an underlying cause, may be caused by a genetic or infectious process which affects multiple tissues, trisomy 21 or rubella
What is a sequence? Examples?
anomalies triggered by one aberration, oligohydraminos/potter sequence
What are the features of trisomy 21?
karyotype (wk) and FISH (day), most common of all age-related chromosomal abnormalities, risk at 35 yrs 1/270, 40 yr 1/335 and 45 1/50, life span long, variable mental retardation, quad screen- prenatal detection
What are the features of trisomy 18?
not compatible with life, most succumb in first few weeks fo life, mental retardation, congenital heart defects, renal defects, overlapping digits (2nd over 3rd, 5th over 4th), rocker bottom feet deep space btwn 1st and 2nd toe, horseshoe kidney- fusion of inferior poles of kidneys
What is gastroshisis?
paraumbilical wall defect, bowel loops eviscerate through opening, normal umbilical cord insertion (on side of defect), no associated congenital anomalies
What is an omphalocele?
defect at insertion of umbilical cord, cords through and on top, intestine out but still in membrane sack, muscle, fascia and skin absent at defect, 30-50% infants have other major congenital anomalies
what are the features of an infant with large for gestational age?
common with diabetic mom, difficult delivery/injuries due to infant size, congenital anomalies- congenital heart disease or VSD, kidney, and CNS defects; hypoglycemia with hyperinsulinemia, >90%tile
What is SUID? features?
sudden unexplained infant death includes: SIDS, other sleep-related infants death due to unknown cases, sleep-related deaths due to accidental suffocation and strangulation in bed, scene investigation very important
what are the features of SIDS?
sudden death of an infant under one year of age which remains unexplained after thorough investigation, complete autopsy, gross and microscopic exam, cytogenic and metabolic studies, 85% btwn 2-4 months, devastating for entire family
What things help prevent or reduce the risk of SIDS?
breast feeding, immunizations (50% reduction), cribs- nothing but baby, no bumper pads,
What is IUGR? 3 general categories?
infant born at TERM and <2500 g, 7-15% stillborn infants, possible drug induced extremity anomalies; fetal (chromosomal congenital anomalies or congenital infection), placental (infection, placenta previa), and maternal (drug or alcohol, smoking, preeclampsia/eclampsia, HTN, maternal malnutrition, chronic illness)
What are the features of the placenta?
umbilical cord (3 vessels, twists and knots, too much or too little, watch length of cords), membrane where ruptured when delivered
What are the features of vasculosyncytial membrane?
allows diffusion of gases and nutrients btwn fetal and maternal systems
What are the features of CMV in pregnancy?
inclusions in placenta, spread by intrauterine transmission, mother’s milk, respiratory droplets, blood transfusions, newborns commonly infected 3-4K per year, 90% have no sequelae, cause of 25% of congenital hearing loss
What are the torch infections?
toxoplasmosis, other bacteria and viruses, rubella, CMV, and HSV
What are the affects of CMV?
stillbirth, IUGR, extensive brain damage (intracranial calcification), cataracts, cardiac anomalies, deafness; newborn may have- fever, encephalitis, chorioretinitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, skin lesions
What maternal conditions are looked for on placental exam?
diabetes, HTN disorders (pre-eclampsia/eclampsia), fever, TORCH infection
What newborn conditions are looked for on placental exam?
still born (autopsy and placental exam improves ID of etiology of stillborn), congenital anomalies, perinatal distress/illness/poor APGAR scores, multiple pregnancy, IUGR, and hydrops
What placental conditions are looked for on placental exam?
abruption, infarction, placental masses, abnormal cord, vasa previa, calcifications
What is tested on the APGAR? What makes up the score?
HR (0=absent, 1100), RR (0=absent, 1=slow, 2=good), Muscle tone (0=limp, 1=flexion, 2=active), Nasal Stimulus (0=NR, 1= Grimace, 2=cough), and Color (0=blue, 1=body pink, 2=all pink)
What is the function of the APGAR?
predictor of perinatal mortality, score 0-1 = 50% mortality, score 4= 20% mortality, score > or =7 = 0% mortality
What is the criteria for a disease to be on the newborn screening?
disorder can be identified at a phase (24-48 hrs after birth) during which it would not ordinarily be clinically detectable, screening test is available with appropriate sensitivity and specificity, and demonstrated benefits of early detection, timely intervention and efficacious treatment of disorder
Metabolic disorders, inborn errors of metabolism are caused by what? diagnosed?
caused by mutations that impair the function of biochemical pathways, diagnosed by quantifying the substrates, canonical products or alternative products in body fluids or tissue or by measuring specific enzymes
what is the clinical presentation of metabolic disorders?
failure to thrive, hypoglycemia, signs of sepsis, asphyxia, positive family history, acute severe multiorgan system illness, unexplained death
What are the clinical effects of metabolic disorders if not treated?
MR, seizures, deafness, blindness, growth retardation, developmental delays
What are the features of hearing screening?
essential preventive public health, prerequisite for population screen, sufficiently frequent in screened population, serious w/o intervention, treatable,
What is the prevalence of hearing loss?
1/2000 to 1/1000 kids born to profound hearing loss, >/= 50% of prelingual hearing loss (before developmental language) is genetic, >/= 50% due to environment, 90% have parents with normal hearing
What are the clinical and lab features of cystic fibrosis?
PE- slnder, nasal stuffiness, rales, sweat chloride test (pilocarpine, measurement disc, normal <40), blood test for CF gene mutation (delta F508 most common but not all)
What is cystic fibrosis?
metabolic disorder characterized by steatorrhea and malnutrition, autosomal recessive, 1000 new cases/year, >70% of pts diagnosed by age 2
What are the diagnostic features of cystic fibrosis?
one of these: >1 phenotypic characteristic, CF in sibling, or positive NB screening test; plus one of these: lab evidence of CFTR abnormality: elevated sweat Cl test on 2 occasions, or 2 CFTR mutations associated with CF, or in vivo demo of abnormal ion transport across nasal epithelium
What are the cystic fibrosis genetic features?
CFTR located on chromosome 7q31.2, >1000 mutations Identified, Delta F508 most common
What are the features of Hirschsprung’s?
1 mo infant presents with constipation, PE- abdomen soft and distended, upon rectal exam infant defecates, x-ray- plain film and barium enema, diagnostic rectal suction biopsy, primary laprascopic pull-through with resection of anganglionic segment
What is Hirschpsrung’s disease? Epidemiology?
absence of submucosal and myenteric ganglion cells, 75% of cases segment limited to rectal and distal sigmoid colon, 1 in 5K live births, 3/4 males, 1/3 cases present in first month of life, associated with downs, colonic atresia, and rarely congential heart disease, GU abnormalities
What is a hemagnioma?
vascular lesions comprise over 2/3 all soft tissue tumors and tumor like conditions in infants and children, may remain original size, grow with infant or more rapidly, nothing but watchful waiting
What is a teratoma? Classifications of germ cell neoplasms?
germ cell neoplasm containing all 3 embryonic cell types; benign- mature teratoma, gonadoblastoma, indeterminate- immature teratoma, malignant- germinoma, yolk sac tumor, embryonal carcinoma, choriocarcinoma, malignant mixed GCT
What are the features of infantile germ cell neoplasms?
treatoma or YST, no malignant elements, mature teratomas don’t metastasize , extragonadal common, testicular seminoma rare
What are the features of adult germ cell neoplasms?
mixed GCT or seminoma/dysgerminoma, malignant elements, mature teratomas may metastasize, extragonadal tumors uncommon, testicular tumors (seminoma) common
What are the top pediatric cancers?
leukemia, CNS tumors, lymphoma, neuroblastoma, rhabdomyosarcoma, Wilm’s tumor
What are the cancers associated with small round blue cell tumors?
leukemia, lymphoma, Wilm’s tumor, neuroblastoma, peripheral primitive neuroectodermal tumor (ewings sarcoma), rhabdomyosarcoma, and medulloblastoma
How are small blue cell tumor specimen triage?
H&E and special staining, snap freeze- frozen tumor for RT-PCR, biology studies, touch preps- cytology and FISH, cytogenic media- standard chromosomes & PCR, and EM fixative (ultrastructural analysis)
