Module 8:PEDS: Causes of death,birth injuries, Congen. Abnorm, Comp. of Preg Flashcards
(33 cards)
Starting off with PEDS what are the various age classifications when it comes to death?
Neonates = first 4 weeks after birth
Infancy = 1st year
Early childhood = 1-4 years
Late childhood = 5-14 years
What are the various causes of death for the different age groups?
Under 1 yr: congenital malformations, LBW and SIDS
1-4 years: accidents, congenital abnormalities, assault/homicide
5-9 yrs: Accidents, malignant neoplasms, congenital abnormalities
10-14 yrs: Accidents, malignant neoplasms, assault/homicide
What are the pre-disposing factors for birth injuries?
Cephalopelvic disproportion
Difficult labor (breech presentation)
Prematurity
What cranial injuries can arise during birth?
Caput succedaneum: compression of venous and lymph drainage — swelling: resolves spontaneously
Cephalohematoma
Skull Fractures
Intracranial hemorrhage
What peripheral injuries can arise during birth?
Brachial palsy: due to pulling during birth
Facial nerve palsy
What is the most common birth injury?
Clavicle fracture
–humerus fracture is also super common
Moving on to congenital Abnormalities what is the presentation for Downs Syndrome (Trisomy 21)?
Mental Retardation Flat Facies Prominent Epicanthal Folds Simian Crease Gap b/w 1st and 2nd toes Duodenal atresia Congenital Heart Disease: ASD, VSD and septum primum! Increased risk of ALL (over 5) and Alzheimers Disease Increased risk for Leukemia!!!
What gene mutations are in Down’s Syndrome (Trisomy 21)?
DYRK1A and RCAN1
What are some features of Klinefelter’s Syndrome (XXY)?
Men are Sterile!!!
- -male hypogonadism: in the presence of at least two x chromosomes and one or more Y chromosomes
- -TESTICULAR ATROPHY!
What are features of Turner’s Syndrome (XO)?
FEMALES
- -short stature, streak ovaries, coarctation of aorta, and horseshoe kidney
- -dysgerminoma!!!
What gene is responsible for Turner’s Syndrome?
Homeobox Gene
22q11.2 deletion syndrome- diagnosed by FISH, what are some features?
Velocardiofacial Syndrome: congenital heart disease and developmental delay
DiGeorge Syndrome: TBX1 gene loss: thymic and parathyroid hypoplasia
–PSYCHOSIS IN BOTH SYNDROMES (schizophrenia and bipolar disorder)
What are some environmental reasons for congenital abnormalities?
Maternal/placental infections: rubella, toxo, syphilis
Maternal Diseases: PKU
Drugs/Chemicals: alcohol – fetal alcohol syndrome
Irradiation
What is the most common cause of congenital malformations?
Multifactorial Inheritance!
cleft lip/palate and neural tube defects
What is polygenic congenital abnormalities?
Timing of prenatal insult has an impact on both the occurrence and type of malformation produced
What genes regulate morphogenesis?
Genes that regulate morphogenesis are targets of teratogens:
–Homeobox (HOX) genes: defect cause limb abnormalities
valproic acid and Retinoic acid (Acne): cleft lip
-Sonic hedgehog gene: holoprosencephaly
There various errors in morphogenesis, each card will go through one. First is malformations, what are some features?
Malformations: primary structural abnormality with poor formation of tissue due to a localized error that occurs during development (intrinsically abnormal developmental process)
–most children are otherwise normal apart from the defect (polydactyly or cleft lip)
The second error in morphogenesis is disruptions, what are some features?
Caused by secondary destruction of a previously normally formed part due to an extrinsic disturbance
The third error in morphogenesis is deformation, what are some features?
Compression of the growing fetus by abnormal biomechanical forces
–maternal factors: first pregnancy, small uterus and leiomyomas
–fetal factors: multiple fetuses
Uterine constraint most common cause!!!!
The fourth error in morphogenesis is sequence, what are some features?
Multiple congenital abnormalities that result from secondary effects of a single localized aberration in organogenesis (Ex. potter sequence)
The last error in morphogenesis is malformation syndrome, what are some features?
Presence of over 1 developmental anomalies with greater than 2 systems due to a common etiology
–none of these disorders occur more frequently than 1 in 3000 births EXCPET: down syndrome and XXY syndrome
Moving on to premature and fetal growth, what is considered small and large for gestational age?
Small (SGA): birth weight less than 10%
Large (LGA): birth weight greater than 90% – caused by maternal diabetes
What is the criteria for premature and LBW?
Premature: less than 37 weeks
LBW: less than 2500 grams
What are fetal, placental and maternal causes of fetal growth restriction/IUGR?
Fetal causes: symmetric (Brain and other organs are proportional)
Placental Causes: asymmetric (other organs are smaller than the brain)
Maternal Causes: asymmetric (other organ are smaller than the brain)
