Module 8:PEDS: Causes of death,birth injuries, Congen. Abnorm, Comp. of Preg Flashcards Preview

Pathology Post Midterm > Module 8:PEDS: Causes of death,birth injuries, Congen. Abnorm, Comp. of Preg > Flashcards

Flashcards in Module 8:PEDS: Causes of death,birth injuries, Congen. Abnorm, Comp. of Preg Deck (33):
1

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

2

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

3

What are the pre-disposing factors for birth injuries?

Cephalopelvic disproportion
Difficult labor (breech presentation)
Prematurity

4

What cranial injuries can arise during birth?

Caput succedaneum: compression of venous and lymph drainage --- swelling: resolves spontaneously
Cephalohematoma
Skull Fractures
Intracranial hemorrhage

5

What peripheral injuries can arise during birth?

Brachial palsy: due to pulling during birth
Facial nerve palsy

6

What is the most common birth injury?

Clavicle fracture
--humerus fracture is also super common

7

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!!!

8

What gene mutations are in Down's Syndrome (Trisomy 21)?

DYRK1A and RCAN1

9

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!

10

What are features of Turner's Syndrome (XO)?

FEMALES
--short stature, streak ovaries, coarctation of aorta, and horseshoe kidney
--dysgerminoma!!!

11

What gene is responsible for Turner's Syndrome?

Homeobox Gene

12

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)

13

What are some environmental reasons for congenital abnormalities?

Maternal/placental infections: rubella, toxo, syphilis
Maternal Diseases: PKU
Drugs/Chemicals: alcohol -- fetal alcohol syndrome
Irradiation

14

What is the most common cause of congenital malformations?

Multifactorial Inheritance!
(cleft lip/palate and neural tube defects)

15

What is polygenic congenital abnormalities?

Timing of prenatal insult has an impact on both the occurrence and type of malformation produced

16

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

17

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)

18

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

19

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!!!!

20

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)

21

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

22

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

23

What is the criteria for premature and LBW?

Premature: less than 37 weeks
LBW: less than 2500 grams

24

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)

25

What are the risk factors for prematurity?

Premature rupture of membranes
Intrauterine infections
Structural abnormalities of the uterus, cervix and placenta
Multiple gestations

26

What is the most common complications of prematurity in a neonate?

Hyaline membrane disease (respiratory distress syndrome)
--caused by maternal diabetes
--ground glass appearance on x-ray

27

What is the pathogenesis for hyaline membrane disease?

Immature type II pneumocytes
--1st several hours: necrotic cellular debris in terminal bronchioles and alveolar ducts
--12-24 hours: hyaline membranes composed of necrotic alveolar type II pneumocytes + fibrin
--greater than 1 day: reparative changes

28

What is the treatment and prevention for hyaline membrane disease?

Prevention: delay labor untill lung matures, induce maturation with steriods and evaluate amniotic fluid phospholipids
Tx: ventilatory support and surfactant replacement therapy

29

There are two complications associated with hyaline membrane disease. What are they?

Retrolental fibroplasia: retinopathy of prematurity due to oxygen toxicity and VEGF
Bronchopulmonary dysplasia: arrested development of alveolar septation at saccular stage of development --- dysmorphic capillary configuration

30

A complication of prematurity is necrotizing enterocolitis, what is this?

premature infant with history of asphyxia develops signs of obstruction after oral feedings have begun -- coagulative necrosis of terminal ileum, cecum and right colon.

31

What are the predisposing factors, diagnosis, and complications of necrotizing enterocolitis?

Predisposing factors: intestinal ischemia, bacterial colonization of the gut and administration of formula feeds
Dx: abdominal radiographs show dilated loops of bowel (pneumotosis intestinalis -- multiple small air filled spaces beneath the mucosa)
Comp: early = sepsis and delayed = malabsorption syndrome

32

Another complication of prematurity is intraventricular and germinal matrix hemorrhage, what is this?

b/c richly vascular area with thin walled capillaries that are very sensitive to anoxia

33

What is Apgar scoring?

Predicts perinatal morbidity but NOT a reliable indicator of long term neurologic outcome
--1 minute score
---5 minute score

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