4.3 Flashcards
1
Q
how high will indirect bilirubin be in kernicterus
A
> 25
2
Q
hereditary mild isolated unconjugated hyperbilirubinemia
A
Gilbert’s syndrome
3
Q
what activity is reduced in Gilbert’s syndrome
A
UGT1A1
4
Q
most common inherited disorder of bilirubin glucuronidation
A
gilbert’s syndrome
5
Q
when might someone with Gilbert’s syndrome develop jaundice
A
periods of stress
fasting
alcohol
illness
dehydration
menstruation
alcohol use
overexertion
6
Q
diagnosis of Gilbert’s syndrome
A
slight increase in isolated indirect bilirubin level with otherwise normal LFTs
7
Q
treatment for Gilbert’s
A
no treatment; not needed
8
Q
blockage, absence, deformity or total absence of a bile duct in newborns or young infants
A
biliary atresia
9
Q
most common cause of neonatal jaundice that is surgically treatable
A
biliary atresia
10
Q
procedure for biliary atresia
A
kasai procedure
11
Q
what ducts are affected in biliary atresia
A
extra hepatic ducts (common bile duct and common hepatic duct)
12
Q
gold standard of diagnosis for biliary atresia
A
cholangiogram
13
Q
how is diagnosis of biliary atresia confirmed
A
liver biopsy
14
Q
what type of bilirubin is increased in biliary atresia
A
conjugated/direct (because it is post hepatic)
15
Q
most common indication for pediatric liver transplant
A
biliary atresia
16
Q
when does physiologic jaundice appear
A
AFTER 24 hours
17
Q
what type of bilirubin is elevated in physiologic jaundice
A
unconjugated/indirect
18
Q
breastfeeding failure jaundice
A
inadequate intake of breast milk
19
Q
breast milk jaundice
A
deconjugation of conjugated bilirubin by beta-glucuronidase which is in breast milk
20
Q
crying for no apparent reason
A
colic
21
Q
what criteria is used to diagnose colic
A
Wessel
22
Q
Wessel criteria for colic
A
crying lasts > 3 hours
3+ days per week
infant is < 3 months of age
23
Q
when does colic typically present
A
between 2nd and 3rd week of life
24
Q
when does colic typically PEAK
A
6 weeks
25
when does colic RESOLVE
12 weeks
26
during what time of day is crying worse in colic
evening
27
pitch of cry in colic
louder, higher
may sound like infant is screaming
28
when might a baby with colic experience relief
after passing gas or feces
29
what are babies with colic at risk for
shaken baby
30
what disease is an important consideration in infants presenting with N/V
Infant GERD
31
GERD typically increases during what age
2-6 months -- likely due to increase in volume of food
32
at what age does GERD begin to decreased
7 months
33
By what age is infant GERD usually resolved
18 months - 2 years of age
34
what is the only/most common symptom of infant GERD
spitting up/reflux
35
what is the only immunoglobulin that causes hemolytic disease of the fetus and newborn or erythroblastosis fetalis
IgG
36
causes of erythroblastosis fetalis
fetomaternal hemorrhage
ABO incompatibility
RH incompatibility
37
ABO incompatibility
Mom has O blood and natural antibodies to A and B
Fetus with A or B blood
38
erythroblastosis fetalis can lead to severe and life threatening anemia of the fetus which is called
hydrops fetalis
39
what test is used to diagnose erythroblastosis fetalis
DAT
Positive = presence of maternal antibodies + evidence of hemolysis
Negative = does not exclude bc A and B antigens are less developed in neonates
40
surgical removal of the prepuce that covers the glans penis
circumcision
41
what is anesthetized during circumcism
dorsal nerve
42
what is anesthetized during circumcision
dorsal nerve
42
what is anesthetized during circumcision
dorsal nerve
43
benefits of circumcision
decreased risk of acquiring HIV, HPV, HSV2 transmission
44
what color is meconium
sticky, greenish black
45
what color is transition stool
greenish-brown, yellowish-brown
46
stool in breastfed infants
mustard yellow, seedy
47
stool in formula fed infants
pasty yellowish brown - consistency of peanut butter
48
why do many infants have BM after every feeding
gastrocolic reflex
49
stools for constipated infant
dry, hard pellet stools
50
how often should newborns be monitored for jaundice
every 8-12 hours
51
how long do vital signs have to be stable before a newborn is discharged
12 hours
52
most common newborn hearing screening
otoacoustic emissions
53
when should all babies have a newborn screening
before they are one month old
54
all babies who do not pass the initial screening should have a follow up screening by what age
3 months
55
all babies should begin intervention with hearing loss before what age
6 months
56
other common hearing test for infants that utilizes electrodes
automated auditory brainstem response
57
5 bones in newborn skull
2 frontal bones
2 parietal bones
1 occipital bone
58
what is the largest fontanelle
anterior fontanelle
59
when does anterior fontanelle close
13-24 months
60
when does posterior fontanelle close
6-8 weeks after birth
61
when does mastoid fontanelle close
6-18 months
62
when does sphenoidal/anterolateral fontanelle close
6 months
63
large for gestational age
birth weight greater than 90th percentile -- > 4000 g
(could be restricted to > 97th percentile) -- > 4400 g
64
small for gestational age
< 10th percentile for gestational age
65
weight of a normal term infant
2500-3999 grams = 5.5-8.8 lbs
66
Normal range for ICP in infants
1.5-6 mmHg
67
most common presenting feature of increased intracranial pressure in infant
bulging anterior fontanelle
68
threshold for treatment for ICP in infants
ICP > 20 for longer than 5 minutes
69
accumulation of blood under scalp
cephalohematoma
70
does cephalohematoma cross suture lines
no
71
edematous scalp due to fluid accumulation shortly after delivery
caput succedaneum
72
does caput succedaneum cross suture lines
yes
73
bleeding in cephalohematoma is gradual, therefore
bleeding/swelling will not be evidence at birth
74
asymmetric shape of the head due to unilateral flattening
plagiocephaly
75
unilateral coronal synostosis
anterior plagiocephaly
76
premature fusion of lambdoid suture
posterior plagiocephaly
77
leading infectious cause of congenital hearing loss
congenital CMV
78
common cause of acquired hearing loss
bacterial meningitis
79
cleft lip is also called
cheiloschisis
80
cleft palate is also called
palatoschisis
81
combo of cleft lip and cleft palate
cheilopalatoschisis
82
common symptoms of palatoschisis
split uvula
83
how long do you have to stop breathing for it to be considered apnea
20 seconds
84
what does BRUE stand for
Brief
Resolved
Unexplained
Event
85
what actually is BRUE
apnea
bradycardia
color change (pallor or cyanosis)
gagging/choking
86
Does the American Academy of Pediatrics (AAP) recommend apnea monitors
no
87
earliest manifestation of cystic fibrosis
meconium ileus
88
what gene is mutated in cystic fibrosis
CFTR gene
89
failure to pass meconium within how many hours is a red flag for neonatal bowel obstruction
48 hours
90
What will you see on abdominal X-ray in baby with meconium ileus
soap bubble appearance
91
lens opacification (thickening)
cataracts
92
what are congenital cataracts usually caused by
TORCH syndrome
93
what will you see on PE for congenital cataracts
absent red reflex
leukocoria
opaque lens
94
neonatal galactorrhea is due to
maternal estrogen
95
"false menses" in newborn is commonly due to
lack of maternal estrogen
96
ventral
below
97
dorsal
upper side
98
congenital animal of the male urethra that results in abnormal ventral placement of the urethral opening
hypospadias
99
pathophysiology of hypospadias
failure of urogenital folds to fuse during development
100
should patients with hypospadias be circumcised
no
101
congenital animal of the male urethra that results in abnormal dorsal placement of the urethral opening
epispadias
102
what else is epispadias commonly associated with
bladder exstrophy
103
pathophysiology of epispadias
failure of midline fusion of penis
104
what might you see in a female with epispadias
bifid clitoris
105
should person with epispadias get circumcised
no
106
imperforate anus is commonly associated with what congenital abnormalities
VACTERL
107
What is VACTERL
V- vertebral decects
A - anal defects
C - cardiac defects
TE - TracheoEsophageal fistula
R - Renal defects
L - limb defects
108
how many defects must be present to diagnose VACTERL
at least 3
109
when should you suspect anal atresia
if newborn hasn't had BM within 24 hours
110
retracted foreskin in an uncircumcised male that cannot be returned to the normal position
paraphimosis
111
between paraphimosis and phimosis, which is considered a urological emergency
paraphimosis
112
inability to retract foreskin over penis
phimosis
113
what could phimosis be due to
distal scarring of the foreskin
114
definitive management of paraphimosis and phimosis
circumcision
115
most common cause of painless scrotal swelling
hydrocele
116
initial test of choice for diagnosis of hydrocele
testicular ultrasound
117
treatment for hydrocele
watchful waiting
118
hernia through the umbilical fibromuscular ring
umbilical hernia
119
pathophysiology of umbilical heria
failure of umbilical ring closure -- usually due to loosening of the tissue around the ring
120
management of umbilical hernia
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
management of umbilical hernia
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
when does umbilical cord usually fall off
1-3 weeks
123
adducting hip while holding knee straight
Barlow maneuver
124
flexing baby’s hip at 90 degrees and then abducting hip
Ortolani maneuver
125
which maneuver will pop the hip out of place if baby has developmental dysplasia of the hip
Barlow maneuver
126
what harness can you use in someone with developmental dysplasia of the hip
pavlik harness
127
clubfoot is also called
talipes equinovarus
128
what type of clubfoot is flexible and results from a fetus's position in the uterus
positional clubfoot
129
characteristics of club foot
plantar flexion
inward tilting of the heel
adduction of the foot (medial deviation away from leg's vertical axis)
130
most frequent congenital limb deformity
polydactyly
131
most common type of polydactyly
post axial (ulnar side/pinky side)
132
most common cause of congenital hypothyroidism
thyroid gland dysgenesis (80-85%)
133
common cause of congenital hypothyroidism in developing countries
lack of maternal iodine
134
how do infants with congenital hypothyroidism appear at birth
normal at birth
135
classic clinical features of neonates with hypothyroidism
prolonged jaundice
feeding problems
hypotonia
enlarged tongue
delayed bone maturation
umbilical hernia
136
what cognitive issues might someone with congenital hypothyroidism have
mental developmental delays
137
Goiter symptoms in children with congenital hypothyroidism
hoarseness and dyspnea due to tracheal compression
138
how to diagnose congenital hypothyroidism
primary hypothyroid profile: increased TSH and decreased T3 and T4
139
what causes torticollis
atypical contraction of the sternocleidomastoid muscle
140
if torticollis develops prenatally
congenital torticollis
141
describe the inheritance of crigler-najjar syndrome
autosomal recessive
142
hereditary unconjugated (indirect) bilirubin
crigler-najjar syndrome
143
the activity of what enzyme is decreased in crigler-najjar syndrome
glucuronosyltransferase (UGT); this is needed to convert indirect bilirubin to direct bilirubin
144
Two types of Crigler-najjar syndrome
Type 1 - no UGT activity; higher risk of developing bilirubin induced neurologic dysfunction
Type 2 (arias syndrome) - markedly decreased UGT activity
145
which type of crigler-najjar syndrome is often asymptomatic
Type 2
146
clinical manifestations of type 1 crigler-najjar syndrome
neonatal jaundice with severe progression during the 2nd week which may lead to kernicterus
147
Diagnosis of crigler-najjar syndrome
isolated elevated unconjugated bilirubin + normal LFTs
Type 1: strikingly elevated - 20-50
Type 2: elevated - 7-10 (<20)
148
when may symptoms of crigler-najjar syndrome worsen
fasting or illness
149
management for type 1 crigler-najjar syndrome
phototherapy + oral calcium
liver transplant is definitive
150
management for type 2 crigler-najjar syndrome
treatment isn't usually necessary but phenobarbital may increase UGT activity in type 2
151
does phenobarbital help UGT activity in TYPE 1 crigler-najjary syndrome
no
152
breastfeeding can reduce the incidence of what illness in a baby
necrotizing enterocolitis
153
most common acquired hemolytic anemia
autoimmune hemolytic anemia
154
SIDS
when a baby younger than 1 dies for no apparent reason
155
how should you always lay a baby for them to sleep
on their BACK
156
should baby sleep on firm or soft surface
FIRM
157
congenital narrowing or blockage of the nasal passage by abnormal bony or soft tissue
choanal atresia
158
are most cases of choanal atresia unilateral or bilateral
unilateral
159
choanal atresia is associated with CHARGE syndrome. what does that stand for?
Colobama
Heart issues
Atresia of choanae
Retardation (physical and mental)
GU issues
Ear defects
160
hereditary conjugated (direct) Hyperbilirubinemia due to decreased hepatocyte excretion of conjugated bilirubin
dubin-johnson syndrome
161
what gene is mutated in dubin-johnson syndrome
MRP2
162
clinical manifestations of dubin-johnson syndrome
usually asymptomatic
may have mild icterus
163
diagnosis of dubin-johnson syndrome
mild, isolated conjugated Hyperbilirubinemia (at least 50% of bilirubin is conjugated)
164
biopsy for dubin-johnson syndrome
grossly black liver and dark granular pigment in the hepatocytes
165
treatment for dubin-johnson syndrome
this is a benign condition; no treatment is required
166
inherited disorder of hepatic storage --> conjugated and unconjugated Hyperbilirubinemia
rotor's syndrome
167
Clinical presentation of rotor's syndrome
usually asymptomatic
may have mild icterus
168
between dubin-johnson and rotors syndrome, which has normal levels of corporphyrin 1
dubin-johnson
169
between dubin-johnson and rotors syndrome, which has elevated levels of corporphyrin 1
rotor's syndrome
170
what is responsible for generating alpha-1 antitrypsin
the liver
171
genetic disorder that leads to pan-acinar emphysema
alpha-1 antitrypsin deficiency
172
liver findings in alpha-1 antitrypsin deficiency
hepatomegaly, chronic hepatitis, cirrhosis, hepatocellular carcinoma
173
diagnosis for alpha-1 antitrypsin deficiency
serum alpha-1 antritrypsin is < 11 micromol/L
174
most common species in mastitis
staph aureus
175
most common cause of neonatal meningitis
Group b strep
