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Pathology III > 25: Childhood diseases I > Flashcards

25: Childhood diseases I Flashcards

1
Q

morphological defects that are present at birth

A

anomalies

  • not just on genetic basis, can be cosmetic or functional
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2
Q

most anomalies are..

A

of unknown origin (40-60%)

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3
Q

top 4 congenital malformations in the US

A

clubfoot
patent ductus arteriosus
ventriular septal defect
cleft lip

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4
Q

affected foot appears to have been rotated internally at the ankle

A

club foot

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5
Q

neonate’s ductus arteriosus fails to close after birth

A

patent ductus arteriosus PDA

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6
Q

a defect/hole in the ventricular septum

A

ventricular septal defect

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7
Q

a cleft is a fissure or opening

A

cleft lip

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8
Q

baby regurgitates at every feeding …

A

atresia

esophagus almost completely occluded demonstrated by endoscopic examination

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9
Q

most common chromosmal disorder and is the leading cause of mental retardation in US

A

down syndrome

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10
Q

10-20 fold increase in developing leukemia

A

down syndrome

most common is megakaryoblastic leukemia

  • all have abnoramal immune response predisposing them to serious infections
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11
Q

down syndrome patients over 40 will develop…

A

neurodegenerative changes characteristic of alzheimer disease

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12
Q

at what age does maternal age increase incidence of DS

A

7X 40-44

13X 45+

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13
Q

incidence of down syndrome

A

1 in 700 births

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14
Q

genetic cause of trisomy 21

A

meiotic nondsjunction in the ovum

  • robersonian translocation and mosaic type may also occur
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15
Q
  • epicanthic folds and flat facial profile
  • simian crease
  • predisposition to leukemia
  • hypotonia
  • gap between first and second toe
  • intestinal stenosis
A

down syndrome

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16
Q

flat facial profile

oblique palpebral fissures

epicanthal folds

simian crease

A

down syndrome

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17
Q

what type of genetic disease is cystic fibrosis

A

autosomal recessive

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18
Q

incidence of cystic fibrosis

A

1 in 3200

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19
Q

principle defect of cystic fibrosis

A

epithelial chloride channel protein is defective resulting in high salt concentration exocrien glands and viscous luminal fluid of the respiratory tract, GI and reproductive tracts

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20
Q

mutation affect both alleles of CFTR gene on chromosome

A

7q 31.2

cystic fibrosis

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21
Q

most common cystic fibrosis mutation

A

deletion of 3 nucleotides coding for phenyalalanie at aa postion 508

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22
Q

Cl movement in lumen of sweat duct v. airway

A

in sweat duct supposed to be going into the cells, in airway supposed to be going out of the cells

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23
Q
  • recurrent pulmonary infection
  • cor pulmonae
  • chronic pancreatitis
  • meconium ileus
  • sterility
  • malabsorption
A

clinical features of cystic fibrosis

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24
Q

define neonate

A

0-28 days

25
Q

define preterm

A
26
Q

define post term

A

> 42 weeks

27
Q

define term

A

38-42 weeks

28
Q

define infant

A

28 days - 1 yr

29
Q

define child

A

1 -17 yr

30
Q

APGAR score categories

A 
color 
heart rate
respiration
reflex
 muscle tone
31
Q

color scoring 0-2

A

0- entirely blue
1- blue extremities
2- no cyanosis

32
Q

heart rate scoring 0-2

A

0- absent

1- 100

33
Q

respiration scoring 0-2

A

absent - 0
weak or irregular 1
strong -2

34
Q

relfex scoring

A

absent -0
grimace or feeble cry -1
sneeze/cough or pulls away -2

35
Q

muscle tone scoring

A

none -0
some flexion -1
active movement -2

36
Q

when do you do the APGAR scoring?

A

at 5 min

37
Q

APGAR 0-1

A

50% chance of death

38
Q

APGAR 4

A

20 %

39
Q

APGAR >7

A

0%

40
Q

second most common cause of neonatal mortality

A

prematurity

41
Q

___% of infants are bron prematurely

A

prematurity

42
Q

prematurity signs

A
  • small infat

-

43
Q

complications of prematurity

A
  • hyaline membrane disease
  • necrotizing enterocolitis
  • spesis
  • intraventricular hemorrhage
  • developmental delay
44
Q

define fetal growth restriction

A

fetal weight that is below the 10th percentile for gestational age as determined through an ultrasound

45
Q

symmetric/ proportionate FGR

A

fetal causes

-chromosomal, congenital malformations, infections

46
Q

asymmetric/ disproportionate FGR (brain spared)

A

placental causes

  • placental anomalies, infection, confined mosaicism
47
Q

maternal FGR causes

A

preeclampsia, chronic hypertension, malnutrition, renal disease, drugs, smoking

48
Q

baby of smoking pregnant woman …

A

prematurity AND FGR (asymmetric with sparing of brain and head)

49
Q

fetal growth restriction complications

A

perinatal asphyxia

meconium aspiration

hypoglycemia

polycythemia

brian dysfunction

hearing and visual impairment

learning disability

50
Q

scalp swelling caused by the presence of the presenting part of the scalp against the dilating cervix during delivery

A

caput succedaneum

51
Q

TORCH transplacental infections

A 
Toxoplasmosis
Other
Rubella
Cytomegalovirus
Herpesvirus

other: listeriosis, syphilis, HIV, HBV, Parvovirus B19

52
Q

in pregant syphilitc women stillbirth occurs in ____ and, of the infant carried to term, _____ have congenital syphillis

A

stillbirth- 1/3

congenital syphilis - 2/3 of carried to term

53
Q

when can treponema pallidum pass the placenta

A

5th month

54
Q

risk to fetus of developing syphilis after exposure is ….

A

40%

55
Q

mulberry molars

A

multiple rounded rudimentary enamel cusps on molars

congenital syphilis

56
Q

hutchinsons incisors

A

notches on biting surfaces, smaller and more widely spaced than normal

congenital syphilis

57
Q

a sharp anterior bowing of the tibia

A

saber shin

congenital syphilis

58
Q

when is rubella virus infection in the mother dangerous to infant

A

first trimester

10% incidence of subsequent fetal infection

59
Q

abnormalities associated with congenital rubella syndrome

A
  • low birth weight
  • purpuric rash
  • small head size
  • heart defects
  • visual problems

Pathology III (7 decks)

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