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Block 4 Found Sci > VIII- Child Path > Flashcards

VIII- Child Path Flashcards

1
Q

most common birth injuries

A
  1. caput succedaneum (scalp swelling)
  2. subgaleal hematoma
  3. skull fractures
  4. intracranial hemorrhage
  5. brachial plexus or facial nerve damage
  6. clavicle, humerus fractures
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2
Q

karyotypes of DS

down syndrome

A
  1. trisomy 21 (3 copies chromo 21) 47 chromos
  2. robertsonian translocation (familial, long part chromo 21 translocated to 14 or 22) still 46 chromos
  3. mosaic (some cells 47 some 46 aka mix of robert and trisomy)

best way to confirm diagnose

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3
Q

clinical features of DS

A
  1. flat facial profile - depressed nasal bridge and small nose
  2. oblique palpebral fissures- upward slant eyes
  3. epicanthal folds - small skin folds in inner eyes corner
  4. simian crease - single deep crease across palm
  5. mental retardation
  6. abundant skin in neck
  7. gap b/t first and second toes
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4
Q

pathogenesis of CF

A

epithelial chloride channel protein defect = high salt concentration in exocrine glands (sweat) + viscous fluid (mucus) in respiratory, GI, reprod tracts

-bc dec reabsorption of NaCl from the lumen via ENaC
-viscosity from dec Cl secretion into lumen and inc Na absorption = inc passive water reabsorp from lumen so dehydrated mucus

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5
Q

genetic features CF

A

autosomal recessive mutation of both alleles for CFTR gene on chromo 7q
-deletion of 3 nucleotides coding at position 508 for phenylalanine

CFTR is tissue specific

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6
Q

clinical features of CF in lungs

A

distended bronchioles + thick mucus WITH marked hyperplasia and hypertrophy of mucus secreting cells + severe lung inflamm
-thick collagen deposition

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7
Q

COD under 1 year

A
  1. congenital anomalies (anatomic defects at birth)
  2. prematurity (RDS leading COD for premature)
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8
Q

COD kids 5-14

A
  1. injury/accidents
  2. malignancy
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9
Q

most common malformations

A
  1. clubfoot W/O CNS anomalies = 25.7%
  2. patent ductus arteriosus = 16.9%
  3. ventricular septal defect = 10.9%
  4. cleft lip W or W/O cleft palate = 9.1%

rectal/ intestinal/esophageal atresia = 3.4%, boards like to test

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10
Q

small for gestational age

A

aka fetal weight below 10th percentile

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11
Q

factors of intrauterine growth restriction

A
  1. fetal abnormalities- symmetric FGR (all systems affected similar)
  2. placental abnormalitis- asymmetric FGR
  3. maternal (most common)- asymmetric FGR

brain growth normal in asym

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12
Q

maternal FGR

A
  1. preeclampsia- HTN, proteinuria, edema
  2. chronic hypertension
  3. thrombophilias
  4. malnutrition, drugs, alc, smoking, renal disease
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13
Q

complications of FGR

A
  1. perinatal asphyxia
  2. meconium aspiration
  3. brain dysfunction
  4. hearing and visual impair
  5. learning disabilities
  6. hypoglycemia
  7. polycythemia
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14
Q

most common causes of perinatal asphyxia

A

FGR

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15
Q

diseases in TORCH

A

T = toxoplasmosis
O = other - syphilis, HIV, HBV, listeriosis
R = rubella
C = cytomegalovirus infection (CMV)
H = herpes virus infection

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16
Q

etiology of SIDS

A

unexplained but risks if young maternal age, smoking during preg, drug abuse, lack prenatal care, short intergestational intervals
-infant has brain stem abnormal, premature, male, antecedent respir infection, multi birth preg

!!environmental!! prone sleep position, sleep on soft surface, hyperthermia, postnatal passive smoking

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17
Q

diagnosing SIDS

A

multiple petechiae + lung congestion from vascular engorgement + hypoplasia of arcuate nucleus + dec brain stem neuronal population

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18
Q

signs of atresia

A

baby regurgitates at every feeding
-if esophageal then may be almost completely occluded

rectal, intestinal, esophageal

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19
Q

complications of DS

A
  1. risk of ALL and AML (acute megakaryoblastic leukemia)
  2. alzheimers
  3. thyroid autoimmunity
  4. serious infections in lungs
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20
Q

clinical features CF can be

A

mild to severe, at birth or later onset, confined to one organ or multiorgan
-since so many different mutations and locations

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21
Q

chronic sinopulmonary disease

in CF

A

persistent infections and chest radiograph abnormalities
chronic cough and sputum
obstruction so wheezing and air trapping
nasal polyps
digital clubbing

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22
Q

GI abnormalities in CF

A

intestinal obstruction, rectal prolapse, meconium ileus
pancreatic insufficiency and inflamm
hepatic cirrhosis, jaundice
nutritional failure to thrive, edema, vitamin def (A, D, E, K)

23
Q

salt loss syndromes in CF

A

acute salt depletion > chronic metabolic alkalosis

24
Q

male GU in CF

A

obstructive azoospermia aka bilateral absence of vas deferens

25
3 key features CF
1. lung infection 2. meconium ileus 3. malabsorption and avitaminosis from chronic pancreatitis and hepatic disease
26
congenital rubella syndrome
mom gets rubella in 1st trimester > transplacental infection but only 10% chance -low birth weight + purpuric rash + microencephaly + heart defects like PDA + vision problems like cataracts
27
congenital syphilis
from Treponema pallidum crossing placenta in 5th month so easily preventable -low SES vesiculobullous rash highly infectious + hutchinson incisors (notches on biting surface, wide spaced) + mulberry molars + saber skin (sharp anterior bowing tibia)
28
neonatal sepsis
early onset: 0-7 days, from *GBS, E. Coli, or klebsiella* = pneumonia, meningitis late onset: 8 days- 3 mo, *staphs, HiB, listeria, chlamydia, mycoplasma, candida* | ascending infection (vaginal delivery)
29
prematurity def
gestational age less than 38 weeks -small weight (under 2500 g) -thin skin -reduced tone and activity -extremities not flexed
30
APGAR scores
1. color = all blue (0) blue extremities (1) no cyanosis (2) 2. heart rate = absent (0) under 100 (1) over 100 (2) 3. respiration = strong (2) weak/irreg (1) absent 0 4. reflex = sneeze/cough/pull away (2) grimace or feeble cry 1 5. muscle tone = active move (2) some flexion (1) at 5 minutes if over 7 then fine
31
complications of prematurity
1. hyaline membrane dz 2. necortizing enterocolitis 3. sepsis 4. intraventricular hemorrhage 5. developmental delay
32
villitis
lymphocytic infiltrate of chorionic villi -recurrent miscarriage or FGR -ascending infection
33
early onset sepsis risk factors
1. previous infant with GBS 2. GBS bacteriuria during preg 3. delivery before 37 weeks (premature) 4. ruptured membranes > 18 hours, inc risk for infection 5. intrapartum temp above 38 deg, peripartum
34
neonatal pneumonia pathogenesis
neutrophils fill immature bronchioles -as infant aspirates amniotic fluid into lungs
35
clinical prez RDS | respiratory distress syndrome
respir distress + cyanosis + hypoxemia + hypercarbia + acidosis (resp and meta) histology shows dilated alveolar ducts with hyaline,
36
pathogenesis RDS
1. **dec surfactant** synthesis, storage, release > dec alveolar surfactant = inc alveolar surface tension 2. **hypoxemia** (from uneven perfusion) + **CO2 retention** (from hypoventilation) 3. acidosis > pulmonary vasocontriction = **hypoperfusion** 4. endothelial and epithelial **damage** = plasma leak into alveoli 5. **hyaline** membrane (fibrin + necrotic cells)
37
cause of RDS
aka hyaline membrane dz -lack pulmonary surfactant due to prematurity of lungs -strong associated with maternal diabetes, C sections, male
38
pathologic features bronchopulmonary dysplasia
reduced total number alveoli + epithelial hyperplasia, squamous metaplasia + interstitial fibrosis -sponge like lung with cobblestone exterior surface neonates treated with oxygen therapy | name is deceiving no actual dysplasia
39
clinical prez fetal hydrops
hemolytic anemia (destruction of anti-D IgG RBC complex) + Hb degradation (lead to jaundice/hyperbilirubin and kernicterus) -anemia leads to heart and liver failure, hydrops -edema
40
pathologic features fetal hydrops
Mo is Rh D-, dad is Rh D+ -fetal RBC (D+) reach maternal circulation during last trimester or during delivery so barriers are gone -anti D IgM produced at initial exposure in first pregnancy, baby is safe bc protected by placenta but future kids at risk bc IgG can cross
41
marker for congenital infantile fibrosarcoma
ETV6-TRKC -can also mark secretory breast carcinoma, mesoblastic nephroma, acute myeloid leukemia
42
clinical prez teratoma
benign tumors @ sacrococcygeal region in females composed of all 3 germ layers -most common solid tumors in newborns -malignancy can happen in 12%
43
clinical prez necrotizing enterocolitis
distended intestine, friable, congested, dark red color -bloody stool -gas in bowel wall on radiograph -perferation -strictures -circulatory collapse
44
pathologic features necrotizing enterocolitis
ischemia = focal to confluent areas of bowel necrosis, usually terminal ileum, cecum, right colon
45
clinical prez neuroblastoma
@ adrenal medulla or sympathetic ganglia 1. neonates show multi cutaneous metastases, blueberry muffin baby 2. under 2 show abdom mass + fever + weight loss 3. overe 2 show GI complaint + ascites + resp distress + bone pain proptosis (forward displacement eye) and periorbital ecchymosis = metastasis
46
pathologic features neuroblastoma
malignant tumor of sympathetic cells -small blue round cells with rosette structure + dense core of neurosecreotry granules -inc catecholamines in blood and urine -NSE in blood | N-myc oncogene
47
WT congenital malformations | wilms tumor
1. WAGR syndrome- Germline Del 11p13 (WT1), genital anomalies, mental retardation, no iris 2. Beckwith-Wiedemann syndrome (WT2 inactivation), organomegaly, adrenal cytomegaly 3. Denys Drash syndrome (WT1 inactivatin), nephropathy, gonadal dysgenesis, gonadoblastoma
48
pathologic features of WT
inactivation of WT1 and WT2 -tightly packed blue cels with blastomal component + interspersed primitize tubules -tan/gray color with well circumscribed margins
49
pathologic subtypes RMS
1. embryonal RMS = good prognosis, sarcoma botryoides variant in holly mucosal lined strucutres 2. alveolar RMS 3. pleomorphic RMS = worst prognosis, predom adults, use **myogenin** IHC marker
50
clinical features FAS
growth retardatin + microcephaly + short palpebral fissures + maxillary hypoplasia + atrial septal defects
51
role of AFP for prenatal screening of NTD
opening in spinal cord or brain early in dev -prevented by folic acid supplement -AFP also marker for down syndrome, liver cancer
52
role of L/S ratio in amniotic fluid in assessing fetal lung maturity
lecithin -sphingomyelin ratio greater/equal to 2 = lung maturity and low risk for RDS -under 1.5 high risk of RDS
53
clinical prez WT
abdom mass hematuria intestinal obstructin fever hypertension

Block 4 Found Sci (67 decks)

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