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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
Q

3 key features CF

A
  1. lung infection
  2. meconium ileus
  3. malabsorption and avitaminosis from chronic pancreatitis and hepatic disease
26
Q

congenital rubella syndrome

A

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
Q

congenital syphilis

A

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
Q

neonatal sepsis

A

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
Q

prematurity def

A

gestational age less than 38 weeks
-small weight (under 2500 g)
-thin skin
-reduced tone and activity
-extremities not flexed

30
Q

APGAR scores

A
  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
Q

complications of prematurity

A
  1. hyaline membrane dz
  2. necortizing enterocolitis
  3. sepsis
  4. intraventricular hemorrhage
  5. developmental delay
32
Q

villitis

A

lymphocytic infiltrate of chorionic villi
-recurrent miscarriage or FGR
-ascending infection

33
Q

early onset sepsis risk factors

A
  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
Q

neonatal pneumonia pathogenesis

A

neutrophils fill immature bronchioles
-as infant aspirates amniotic fluid into lungs

35
Q

clinical prez RDS

respiratory distress syndrome

A

respir distress + cyanosis + hypoxemia + hypercarbia + acidosis (resp and meta)

histology shows dilated alveolar ducts with hyaline,

36
Q

pathogenesis RDS

A
  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
Q

cause of RDS

A

aka hyaline membrane dz
-lack pulmonary surfactant due to prematurity of lungs
-strong associated with maternal diabetes, C sections, male

38
Q

pathologic features bronchopulmonary dysplasia

A

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
Q

clinical prez fetal hydrops

A

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
Q

pathologic features fetal hydrops

A

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
Q

marker for congenital infantile fibrosarcoma

A

ETV6-TRKC
-can also mark secretory breast carcinoma, mesoblastic nephroma, acute myeloid leukemia

42
Q

clinical prez teratoma

A

benign tumors @ sacrococcygeal region in females composed of all 3 germ layers
-most common solid tumors in newborns
-malignancy can happen in 12%

43
Q

clinical prez necrotizing enterocolitis

A

distended intestine, friable, congested, dark red color
-bloody stool
-gas in bowel wall on radiograph
-perferation
-strictures
-circulatory collapse

44
Q

pathologic features necrotizing enterocolitis

A

ischemia = focal to confluent areas of bowel necrosis, usually terminal ileum, cecum, right colon

45
Q

clinical prez neuroblastoma

A

@ 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
Q

pathologic features neuroblastoma

A

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
Q

WT congenital malformations

wilms tumor

A
  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
Q

pathologic features of WT

A

inactivation of WT1 and WT2
-tightly packed blue cels with blastomal component + interspersed primitize tubules
-tan/gray color with well circumscribed margins

49
Q

pathologic subtypes RMS

A
  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
Q

clinical features FAS

A

growth retardatin + microcephaly + short palpebral fissures + maxillary hypoplasia + atrial septal defects

51
Q

role of AFP for prenatal screening of NTD

A

opening in spinal cord or brain early in dev
-prevented by folic acid supplement
-AFP also marker for down syndrome, liver cancer

52
Q

role of L/S ratio in amniotic fluid in assessing fetal lung maturity

A

lecithin -sphingomyelin ratio greater/equal to 2 = lung maturity and low risk for RDS
-under 1.5 high risk of RDS

53
Q

clinical prez WT

A

abdom mass
hematuria
intestinal obstructin
fever
hypertension

Block 4 Found Sci (67 decks)

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