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Unit 4 disease charts > 4.3 > Flashcards

4.3 Flashcards

1
Q

how high will indirect bilirubin be in kernicterus

A

> 25

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2
Q

hereditary mild isolated unconjugated hyperbilirubinemia

A

Gilbert’s syndrome

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3
Q

what activity is reduced in Gilbert’s syndrome

A

UGT1A1

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4
Q

most common inherited disorder of bilirubin glucuronidation

A

gilbert’s syndrome

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5
Q

when might someone with Gilbert’s syndrome develop jaundice

A

periods of stress
fasting
alcohol
illness
dehydration
menstruation
alcohol use
overexertion

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6
Q

diagnosis of Gilbert’s syndrome

A

slight increase in isolated indirect bilirubin level with otherwise normal LFTs

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7
Q

treatment for Gilbert’s

A

no treatment; not needed

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8
Q

blockage, absence, deformity or total absence of a bile duct in newborns or young infants

A

biliary atresia

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9
Q

most common cause of neonatal jaundice that is surgically treatable

A

biliary atresia

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10
Q

procedure for biliary atresia

A

kasai procedure

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11
Q

what ducts are affected in biliary atresia

A

extra hepatic ducts (common bile duct and common hepatic duct)

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12
Q

gold standard of diagnosis for biliary atresia

A

cholangiogram

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13
Q

how is diagnosis of biliary atresia confirmed

A

liver biopsy

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14
Q

what type of bilirubin is increased in biliary atresia

A

conjugated/direct (because it is post hepatic)

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15
Q

most common indication for pediatric liver transplant

A

biliary atresia

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16
Q

when does physiologic jaundice appear

A

AFTER 24 hours

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17
Q

what type of bilirubin is elevated in physiologic jaundice

A

unconjugated/indirect

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18
Q

breastfeeding failure jaundice

A

inadequate intake of breast milk

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19
Q

breast milk jaundice

A

deconjugation of conjugated bilirubin by beta-glucuronidase which is in breast milk

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20
Q

crying for no apparent reason

A

colic

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21
Q

what criteria is used to diagnose colic

A

Wessel

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22
Q

Wessel criteria for colic

A

crying lasts > 3 hours
3+ days per week
infant is < 3 months of age

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23
Q

when does colic typically present

A

between 2nd and 3rd week of life

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24
Q

when does colic typically PEAK

A

6 weeks

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25
Q

when does colic RESOLVE

A

12 weeks

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26
Q

during what time of day is crying worse in colic

A

evening

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27
Q

pitch of cry in colic

A

louder, higher
may sound like infant is screaming

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28
Q

when might a baby with colic experience relief

A

after passing gas or feces

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29
Q

what are babies with colic at risk for

A

shaken baby

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30
Q

what disease is an important consideration in infants presenting with N/V

A

Infant GERD

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31
Q

GERD typically increases during what age

A

2-6 months – likely due to increase in volume of food

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32
Q

at what age does GERD begin to decreased

A

7 months

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33
Q

By what age is infant GERD usually resolved

A

18 months - 2 years of age

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34
Q

what is the only/most common symptom of infant GERD

A

spitting up/reflux

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35
Q

what is the only immunoglobulin that causes hemolytic disease of the fetus and newborn or erythroblastosis fetalis

A

IgG

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36
Q

causes of erythroblastosis fetalis

A

fetomaternal hemorrhage
ABO incompatibility
RH incompatibility

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37
Q

ABO incompatibility

A

Mom has O blood and natural antibodies to A and B
Fetus with A or B blood

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38
Q

erythroblastosis fetalis can lead to severe and life threatening anemia of the fetus which is called

A

hydrops fetalis

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39
Q

what test is used to diagnose erythroblastosis fetalis

A

DAT
Positive = presence of maternal antibodies + evidence of hemolysis
Negative = does not exclude bc A and B antigens are less developed in neonates

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40
Q

surgical removal of the prepuce that covers the glans penis

A

circumcision

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41
Q

what is anesthetized during circumcism

A

dorsal nerve

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42
Q

what is anesthetized during circumcision

A

dorsal nerve

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42
Q

what is anesthetized during circumcision

A

dorsal nerve

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43
Q

benefits of circumcision

A

decreased risk of acquiring HIV, HPV, HSV2 transmission

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44
Q

what color is meconium

A

sticky, greenish black

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45
Q

what color is transition stool

A

greenish-brown, yellowish-brown

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46
Q

stool in breastfed infants

A

mustard yellow, seedy

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47
Q

stool in formula fed infants

A

pasty yellowish brown - consistency of peanut butter

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48
Q

why do many infants have BM after every feeding

A

gastrocolic reflex

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49
Q

stools for constipated infant

A

dry, hard pellet stools

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50
Q

how often should newborns be monitored for jaundice

A

every 8-12 hours

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51
Q

how long do vital signs have to be stable before a newborn is discharged

A

12 hours

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52
Q

most common newborn hearing screening

A

otoacoustic emissions

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53
Q

when should all babies have a newborn screening

A

before they are one month old

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54
Q

all babies who do not pass the initial screening should have a follow up screening by what age

A

3 months

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55
Q

all babies should begin intervention with hearing loss before what age

A

6 months

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56
Q

other common hearing test for infants that utilizes electrodes

A

automated auditory brainstem response

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57
Q

5 bones in newborn skull

A

2 frontal bones
2 parietal bones
1 occipital bone

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58
Q

what is the largest fontanelle

A

anterior fontanelle

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59
Q

when does anterior fontanelle close

A

13-24 months

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60
Q

when does posterior fontanelle close

A

6-8 weeks after birth

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61
Q

when does mastoid fontanelle close

A

6-18 months

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62
Q

when does sphenoidal/anterolateral fontanelle close

A

6 months

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63
Q

large for gestational age

A

birth weight greater than 90th percentile – > 4000 g
(could be restricted to > 97th percentile) – > 4400 g

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64
Q

small for gestational age

A

< 10th percentile for gestational age

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65
Q

weight of a normal term infant

A

2500-3999 grams = 5.5-8.8 lbs

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66
Q

Normal range for ICP in infants

A

1.5-6 mmHg

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67
Q

most common presenting feature of increased intracranial pressure in infant

A

bulging anterior fontanelle

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68
Q

threshold for treatment for ICP in infants

A

ICP > 20 for longer than 5 minutes

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69
Q

accumulation of blood under scalp

A

cephalohematoma

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70
Q

does cephalohematoma cross suture lines

A

no

71
Q

edematous scalp due to fluid accumulation shortly after delivery

A

caput succedaneum

72
Q

does caput succedaneum cross suture lines

A

yes

73
Q

bleeding in cephalohematoma is gradual, therefore

A

bleeding/swelling will not be evidence at birth

74
Q

asymmetric shape of the head due to unilateral flattening

A

plagiocephaly

75
Q

unilateral coronal synostosis

A

anterior plagiocephaly

76
Q

premature fusion of lambdoid suture

A

posterior plagiocephaly

77
Q

leading infectious cause of congenital hearing loss

A

congenital CMV

78
Q

common cause of acquired hearing loss

A

bacterial meningitis

79
Q

cleft lip is also called

A

cheiloschisis

80
Q

cleft palate is also called

A

palatoschisis

81
Q

combo of cleft lip and cleft palate

A

cheilopalatoschisis

82
Q

common symptoms of palatoschisis

A

split uvula

83
Q

how long do you have to stop breathing for it to be considered apnea

A

20 seconds

84
Q

what does BRUE stand for

A

Brief
Resolved
Unexplained
Event

85
Q

what actually is BRUE

A

apnea
bradycardia
color change (pallor or cyanosis)
gagging/choking

86
Q

Does the American Academy of Pediatrics (AAP) recommend apnea monitors

A

no

87
Q

earliest manifestation of cystic fibrosis

A

meconium ileus

88
Q

what gene is mutated in cystic fibrosis

A

CFTR gene

89
Q

failure to pass meconium within how many hours is a red flag for neonatal bowel obstruction

A

48 hours

90
Q

What will you see on abdominal X-ray in baby with meconium ileus

A

soap bubble appearance

91
Q

lens opacification (thickening)

A

cataracts

92
Q

what are congenital cataracts usually caused by

A

TORCH syndrome

93
Q

what will you see on PE for congenital cataracts

A

absent red reflex
leukocoria
opaque lens

94
Q

neonatal galactorrhea is due to

A

maternal estrogen

95
Q

“false menses” in newborn is commonly due to

A

lack of maternal estrogen

96
Q

ventral

A

below

97
Q

dorsal

A

upper side

98
Q

congenital animal of the male urethra that results in abnormal ventral placement of the urethral opening

A

hypospadias

99
Q

pathophysiology of hypospadias

A

failure of urogenital folds to fuse during development

100
Q

should patients with hypospadias be circumcised

A

no

101
Q

congenital animal of the male urethra that results in abnormal dorsal placement of the urethral opening

A

epispadias

102
Q

what else is epispadias commonly associated with

A

bladder exstrophy

103
Q

pathophysiology of epispadias

A

failure of midline fusion of penis

104
Q

what might you see in a female with epispadias

A

bifid clitoris

105
Q

should person with epispadias get circumcised

A

no

106
Q

imperforate anus is commonly associated with what congenital abnormalities

A

VACTERL

107
Q

What is VACTERL

A

V- vertebral decects
A - anal defects
C - cardiac defects
TE - TracheoEsophageal fistula
R - Renal defects
L - limb defects

108
Q

how many defects must be present to diagnose VACTERL

A

at least 3

109
Q

when should you suspect anal atresia

A

if newborn hasn’t had BM within 24 hours

110
Q

retracted foreskin in an uncircumcised male that cannot be returned to the normal position

A

paraphimosis

111
Q

between paraphimosis and phimosis, which is considered a urological emergency

A

paraphimosis

112
Q

inability to retract foreskin over penis

A

phimosis

113
Q

what could phimosis be due to

A

distal scarring of the foreskin

114
Q

definitive management of paraphimosis and phimosis

A

circumcision

115
Q

most common cause of painless scrotal swelling

A

hydrocele

116
Q

initial test of choice for diagnosis of hydrocele

A

testicular ultrasound

117
Q

treatment for hydrocele

A

watchful waiting

118
Q

hernia through the umbilical fibromuscular ring

A

umbilical hernia

119
Q

pathophysiology of umbilical heria

A

failure of umbilical ring closure – usually due to loosening of the tissue around the ring

120
Q

management of umbilical hernia

A

observation - usually resolves by 2 years old
surgical repair may be indicated if still persistent in kids 5 years of age or older to avoid incarceration or strangulation

121
Q

management of umbilical hernia

A

observation - usually resolves by 2 years old
surgical repair may be indicated if still persistent in kids 5 years of age or older to avoid incarceration or strangulation

122
Q

when does umbilical cord usually fall off

A

1-3 weeks

123
Q

adducting hip while holding knee straight

A

Barlow maneuver

124
Q

flexing baby’s hip at 90 degrees and then abducting hip

A

Ortolani maneuver

125
Q

which maneuver will pop the hip out of place if baby has developmental dysplasia of the hip

A

Barlow maneuver

126
Q

what harness can you use in someone with developmental dysplasia of the hip

A

pavlik harness

127
Q

clubfoot is also called

A

talipes equinovarus

128
Q

what type of clubfoot is flexible and results from a fetus’s position in the uterus

A

positional clubfoot

129
Q

characteristics of club foot

A

plantar flexion
inward tilting of the heel
adduction of the foot (medial deviation away from leg’s vertical axis)

130
Q

most frequent congenital limb deformity

A

polydactyly

131
Q

most common type of polydactyly

A

post axial (ulnar side/pinky side)

132
Q

most common cause of congenital hypothyroidism

A

thyroid gland dysgenesis (80-85%)

133
Q

common cause of congenital hypothyroidism in developing countries

A

lack of maternal iodine

134
Q

how do infants with congenital hypothyroidism appear at birth

A

normal at birth

135
Q

classic clinical features of neonates with hypothyroidism

A

prolonged jaundice
feeding problems
hypotonia
enlarged tongue
delayed bone maturation
umbilical hernia

136
Q

what cognitive issues might someone with congenital hypothyroidism have

A

mental developmental delays

137
Q

Goiter symptoms in children with congenital hypothyroidism

A

hoarseness and dyspnea due to tracheal compression

138
Q

how to diagnose congenital hypothyroidism

A

primary hypothyroid profile: increased TSH and decreased T3 and T4

139
Q

what causes torticollis

A

atypical contraction of the sternocleidomastoid muscle

140
Q

if torticollis develops prenatally

A

congenital torticollis

141
Q

describe the inheritance of crigler-najjar syndrome

A

autosomal recessive

142
Q

hereditary unconjugated (indirect) bilirubin

A

crigler-najjar syndrome

143
Q

the activity of what enzyme is decreased in crigler-najjar syndrome

A

glucuronosyltransferase (UGT); this is needed to convert indirect bilirubin to direct bilirubin

144
Q

Two types of Crigler-najjar syndrome

A

Type 1 - no UGT activity; higher risk of developing bilirubin induced neurologic dysfunction
Type 2 (arias syndrome) - markedly decreased UGT activity

145
Q

which type of crigler-najjar syndrome is often asymptomatic

A

Type 2

146
Q

clinical manifestations of type 1 crigler-najjar syndrome

A

neonatal jaundice with severe progression during the 2nd week which may lead to kernicterus

147
Q

Diagnosis of crigler-najjar syndrome

A

isolated elevated unconjugated bilirubin + normal LFTs

Type 1: strikingly elevated - 20-50
Type 2: elevated - 7-10 (<20)

148
Q

when may symptoms of crigler-najjar syndrome worsen

A

fasting or illness

149
Q

management for type 1 crigler-najjar syndrome

A

phototherapy + oral calcium

liver transplant is definitive

150
Q

management for type 2 crigler-najjar syndrome

A

treatment isn’t usually necessary but phenobarbital may increase UGT activity in type 2

151
Q

does phenobarbital help UGT activity in TYPE 1 crigler-najjary syndrome

A

no

152
Q

breastfeeding can reduce the incidence of what illness in a baby

A

necrotizing enterocolitis

153
Q

most common acquired hemolytic anemia

A

autoimmune hemolytic anemia

154
Q

SIDS

A

when a baby younger than 1 dies for no apparent reason

155
Q

how should you always lay a baby for them to sleep

A

on their BACK

156
Q

should baby sleep on firm or soft surface

A

FIRM

157
Q

congenital narrowing or blockage of the nasal passage by abnormal bony or soft tissue

A

choanal atresia

158
Q

are most cases of choanal atresia unilateral or bilateral

A

unilateral

159
Q

choanal atresia is associated with CHARGE syndrome. what does that stand for?

A

Colobama
Heart issues
Atresia of choanae
Retardation (physical and mental)
GU issues
Ear defects

160
Q

hereditary conjugated (direct) Hyperbilirubinemia due to decreased hepatocyte excretion of conjugated bilirubin

A

dubin-johnson syndrome

161
Q

what gene is mutated in dubin-johnson syndrome

A

MRP2

162
Q

clinical manifestations of dubin-johnson syndrome

A

usually asymptomatic
may have mild icterus

163
Q

diagnosis of dubin-johnson syndrome

A

mild, isolated conjugated Hyperbilirubinemia (at least 50% of bilirubin is conjugated)

164
Q

biopsy for dubin-johnson syndrome

A

grossly black liver and dark granular pigment in the hepatocytes

165
Q

treatment for dubin-johnson syndrome

A

this is a benign condition; no treatment is required

166
Q

inherited disorder of hepatic storage –> conjugated and unconjugated Hyperbilirubinemia

A

rotor’s syndrome

167
Q

Clinical presentation of rotor’s syndrome

A

usually asymptomatic
may have mild icterus

168
Q

between dubin-johnson and rotors syndrome, which has normal levels of corporphyrin 1

A

dubin-johnson

169
Q

between dubin-johnson and rotors syndrome, which has elevated levels of corporphyrin 1

A

rotor’s syndrome

170
Q

what is responsible for generating alpha-1 antitrypsin

A

the liver

171
Q

genetic disorder that leads to pan-acinar emphysema

A

alpha-1 antitrypsin deficiency

172
Q

liver findings in alpha-1 antitrypsin deficiency

A

hepatomegaly, chronic hepatitis, cirrhosis, hepatocellular carcinoma

173
Q

diagnosis for alpha-1 antitrypsin deficiency

A

serum alpha-1 antritrypsin is < 11 micromol/L

174
Q

most common species in mastitis

A

staph aureus

175
Q

most common cause of neonatal meningitis

A

Group b strep

Unit 4 disease charts (9 decks)

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