Boards Buzzworthy Flashcards
(367 cards)
1
Q
salt and pepper retina
A
rubella
2
Q
blue diaper syndrome
A
abnormal intestinal tryptophan transport –> blue urine
3
Q
alaskan eskimos
A
Hep B
4
Q
Blueberry muffin
A
CMV
5
Q
Slapped cheeks
A
Parvo B19
6
Q
Celery stalking long bone
A
Rubella
7
Q
popcorn-snowflake intracranial calcifications
A
toxo
8
Q
plucked chicken skin
A
ketosis pilaris
9
Q
greek helmet facies
A
Wolf Hirschhorn
10
Q
mitten hands/feet
A
Aperts
11
Q
Cloverleaf skull
A
Thanatophoric dysplasia
Pfeiffer
12
Q
Pilli torti
A
Menke’s disease
13
Q
Testes at “12”
A
5 alpha reductase deficiency
14
Q
seal bark cry, tracheomalacia
A
look for esophageal atresia
15
Q
stippled epiphyses
A
coumadin
16
Q
hockey stick palmar crease
A
fetal EtOH
17
Q
patellar stippling
Popliteal area calcifications (chondrodysplasia punctate)
A
Zellweger’s
18
Q
snuffles, saber shins, Hutchinson’s teeth
A
Syphilis
19
Q
single bubble
A
pyloric atresia
20
Q
double bubble
A
duodenal atresia
21
Q
triple bubble
A
jejunal or ilial atresia
22
Q
filling defects on barium enema
A
meconium plug
23
Q
Northern European mother
Infant with: anemia-sphero/elliptocytosis
A
pyruvate kinase deficiency
24
Q
Navajo Indian
A
Congenital Met Hgb
25
chocolate blood
met Hgb
26
chocolate colored amniotic fluid
listeria
27
Finnish or Amish, neutropenia
Cartilage-hair-hypoplasia
28
Depakote
Neural tube defects
limb defects
29
Dig toxicity
feeding intolerance
any arrhythmia
30
BOGGY placenta
syphilis
congenital nephrotic syndrome
31
Scimitar
PAPVR with R PV draining into IVC
32
3/E sign
coarctation
33
Howell-Jolly bodies
no spleen
Need encapsulated immunizations
34
Heinz bodies
denatured Hgb--> enzyme defect
35
banana/lemon sign on prenatal US
meningomyelocele
36
mouse urine odor
PKU
37
sweaty feet
isovaleric acidemia
glutaric aciduria type 2
38
urine succinylacetone elevated
tyrosinemia
39
male cat urine smell
Beta-methylcrotonyl glycinuria
40
Meckel-Gruber
Encephalocele
41
Dive bomber EMG
congenital myotonic dystrophy
42
Corkscrew upper GI
malrotation
43
Elfin facies
WILLIAMS
supravalvular aortic stenosis
44
expressionless facies
Mobius
45
cataracts and hepatomegaly
galatosemia
46
retrograde aortic flow on echo
HLHS
47
snowman
TAPVR
48
Boot
TOF
49
Egg
TGA
50
Swollen feet
Turner's
51
Maternal fatty liver
baby with LCHAD
52
fetal bradycardia
maternal lupus
53
baby or fetus with hiccups
non-ketotic hyperglycinemia
54
Baby bleeding with normal coags
Factor 13 deficiency
55
low TREC on newborn screen
DiGeorge or SCID
56
LCPUFA affects?
retina
brain
57
OTC
high orotic acid
58
Intracellular dipplococci
Neisseria
59
Perinuclear vacuolization
Owl’s eye inclusion bodies
CMV
60
Christmas tree cataract
Myotonic dystrophy
61
Congenital cataract
Rubella
62
Pyloric stenosis
Junctional EB
63
Eosinophil on smear
E. Tox
64
Tzank smear with multinucleated giant cells
HSV
65
placenta with microabscesses, nodules
Listeria
66
MSUD
thiamine = vit B1
67
homocystinuria
pyridoxine = vit B6
68
tyrosinemia
vit c
69
MMA
methylmalonic acidemia
B12 = cobalamin
70
glutaric aciduria T2
riboflavin = vit B2
71
carboxylase synthase deficiency
biotin
72
component of BM affected by freezing
fat
73
GA increases lung compliance
increased surfactant
increased airway septation
74
2.5 to 3.0 ETT
decrease time constant
resistance x compliance
75
iNO use
decreased ECMO
76
placental glucose transport
facilitated diffusion
77
AA transport
ACTIVE transport
78
inflammatory fetal response
funisitis
79
antiphospholipid syndrome
microcephaly
80
rubella heart disease
PDA, PPS
81
tension pneumo
decreased BP
increased HR
82
neonate feeding difficulties and wheezing
double aortic arch
MCC vascular ring
83
gag reflex
CN 9 & 10
84
arthrogryposis
SMA
congenital myotonic dystrophy
85
prader willi test
DNA methylation
86
small foramen magnum
achondroplasia
87
translation template
mRNA
88
major malformation incidence
2-3/100
89
untreated PKU
microcephaly
90
gram + rods
listeria
91
desquamation of hands and soles
syphilis
92
HIV/SCID (T Cell defect) susceptible to?
mycobacterium TB
93
SSSS med contraindicated
steriods
94
congenital candidiasis treatment
amphotericin
95
newborn with ESBL Klebsiella
why?
excessive cephalosporin use
96
Ig not involved in immune protection
IgD
97
Tall peaked T waves
Hyperkalemia
98
TPN/IL with rising triglycerides
why?
lack of lecithin acyl
99
essential amino acids
PVT TIM HALL
100
fat content foremilk vs hind milk
higher in hind
101
protein content premature vs term BM
higher in preterm
102
short gut, starting enteral feeds
add fat soluble vitamins
103
renal flank mass, thrombocytopenia, hematuria
renal vein thrombosis
104
pituitary adenoma
SIADH
105
metabolism of caffeine
liver cytochrome
106
heparin overdose tx
protamine sulfate
107
vitamin A overdose
test LFTs
108
CP after HIE
spastic quadriplegia
109
parasaggital cerebral injury
shoulder girdle injury
110
Low T4 and normal TSH
Low TBG
sick euthyroid
111
seizure with tumor
teratoma
astrocytoma?
112
hemangioma and thrombocytopenia
Kassabach-Merritt
113
PDA ligation complication
vocal cord paralysis
114
decrease the rate of IVH
prenatal steroids
115
NAIT plt count and MCV
LOW plt
HIGH MCV
116
Fanconi electrolytes
Low phos, Na Ca K, protein
117
Hyperbili developmental abnormality
choreoathetoid movements
118
hypogonad, hypopit eye exam
SOD- optic atrophy
119
maternal history of venous thrombosis and infant with necrotic skin lesion
purpura fulminans
protein C deficiency
120
TEF with scaphoid abdomen
Types I and II
121
anti-hypertension med causing oliguria
captopril
122
No corneal reflex
cranial nerve?
CN V
123
Hyperbili affected brain areas
basal ganglia, globus pallidus
124
HOCM CHF tx
beta blocker
125
Alagille
AD
PPS
xanthoma
paucity of intrahepatic bile duct
126
FGFR2- craniosynostosis
Apert (syndactyly) and Crouzon
127
fetal SVT tx
digoxin
128
neonatal SVT tx
adenosine
synchronized cardioversion
129
EEG pattern with worst prognosis
burst suppression
130
jxnal epidermolysis bullosa and vomiting
pyloric stenosis
131
LGA baby with CHD
TGA
132
PGE side effects
fever
apnea
bradycardia
hypotension
cortical hyperostosis
133
Noonan CHD
pulmonic stenosis
cardiomyopathy
134
William's CHD
supravalvular AS
135
CHD post op HTN tx
nitroprusside
can cause cyanoide poisoning
136
Low BW hormone
decreased IGF
137
Hyperinsulinism treatment
diazoxide
risk of pulmonary HTN
138
TTTS, placentation
Mono-di
139
IUGR cause in developed countries
HTN
140
PPHN maternal drugs
SSRI, aspirin, indomethacin
141
breastfeeding contraindications
lithium
chemo
HTCLV
breast HSV
street drugs
HIV (although in real life, not so much anymore)
142
translated protein to properly functioning
folding
143
Zellweger's
increase VLCFA, peroxisome abnormality
high forehead
wide AF
seizures, hypotonia
PCKD
**stippled epiphysis**
hearing loss
cataracts
glaucoma
AR
144
linnear inflammatory vesicles
seizures
spastic paralysis
incontinenti pigmenti
XD
145
syndactyly
cryptorchidism
microcephaly
smith-lemli-opitz
low cholesterol levels
elevated 7 dehydrocholesterol
146
white forelock
waardenburg
deafness
147
cornelia de lange
mode of inheritance
AD
148
protein folding defect
CF
149
imperforate anus with meconium from urethra
supralevator
150
location of fatal brain tumors
infratentorial
151
side effect of exchange transfusion
decrease platelet, Ca, Na
increase K
152
vit K deficiency coags
increase PT
153
eczema, recurrent infections
wiskott aldrich
XR
thrombocytopenia
154
lactoferrin MOA
decreased availability of free Fe
155
albinism
nystagmus
chediak-higashi
AR
abnormal neutrophil degranulation
LYST mutation
156
anemia
high retic
microspherocytes
increased MCV
vitamin E deficiency
157
bilirubin form that reabsorbs in large bowel
unconjugated bilirubin
158
thrombopoeitin:
decreased production vs destruction
High
vs
Low
159
chlamydia treatment
azithromycin
160
elevated ammonia
elevated glycine
non-ketotic hyperglycinemia
HICCUPS
EEG burst suppression
161
brachycephaly
Carpenter Syndrome
polydactyly
CHD
162
flaccid paralysis after difficult delivery
spinal cord injury
MRI
163
HIE changes
increased extracellular glutamate/lactate
decreased ATP
164
Diving reflex
brain
heart
adrenals
165
APGAR 0-3 at 5, 10, 20
1%
9%
57%
166
myotonic dystrophy inheritance
AD
expanded CTG repeats
167
lack of blinking
CN damage
CN VII
CN V- afferent
168
lateral eye deviation
seizures
unequal pupils
hemorrhage over convexities
169
HIE brain injury
selective neuronal necrosis
170
forceps with seizures
Subarachnoid hemorrhage
171
Doll's Eye
CN III, VI
172
frog leg position
tongue fasciculation
SMA 1, AR
173
cerebellar vermis hypoplasia
cystic dilation of 4th ventricle
Dandy Walker
associated with hydrocephalus
174
selective neuronal necrosis
What cells are damaged
oligodendrocytes
175
TPN changes with renal insufficiency
DECREASE:
selenium
chromium
176
TPN changes with cholestasis
DECREASE:
manganese
copper
INCREASE:
zinc
177
essential fatty acids
linoleic
linolenic
178
preseve immune component of BM
freezing
179
optimal calcium requirement
150-200 mg/kg/day
180
optimal phos requirement
75-110 mg/kg/day
181
gluconeogenic AA
alanine
glutamine
aspartate
182
common cause of ascites
PUV
urinary tract blockage, hydronephrosis, thick walled bladder, oligohydramnios
183
stridor
weak cry
feeding problems
unilateral vocal cord paralysis
184
upper airway patency CN
CN IX
glossopharyngeal
185
iNO side effect
metHgb
186
narcan to babies of drug addicted mother
seizures
187
urgent eye exam
increased size of one pupil
188
milk protein allergy at 3 weeks
B-lactoglobulin
189
AA in breastmilk but not TPN
glutamate
aspartate
190
FA in TPN
linoleic acid
191
HSM
hypochromic anemia
osteopenia
copper deficiency
192
FA defect assoc with HELLP
LCHAD
193
candidal infection first symptom
thrombocytopenia
194
RNA polymerase recognizes _ to synthesize RNA
promoter
195
TSH increased at 12 hours of life
physiologic surge due to cold exposure
196
polydactyly
PCKD
encephalocele
Meckel-Gruber
197
fused eyelids
syndactyly
urogenital problems
Fraser
198
cutis aplasia
T13
199
CF testing
blot paper for increased IRT
200
Marfan
fibrillin defect
201
systemic/pulm HTN with LVH and systemic to pulmonary collateral
repaired coarct
202
chronic diuretic
metabolic alkalosis
203
Asian male with jaundice
deficiency glucoronyl transferase
204
Kernicterus eye
UPWARD gaze
205
protein accretion at 30 wks
3g/kg/day
206
n-3 FA essential
eye development
207
GIR 27 weeker
6-8
208
undescended testes
decreased DHT
5-alpha reductase
209
apoptotic damage with HIE
caspase
210
traumatic birth
distended scalp veins
eyelid edema
sagittal thrombosis
211
severe effects of CMV likelihood
10%
212
Down's with skin nodules
leukemia
elevated WBC
213
PDA BP
widened pulse pressure
214
Turner's CHD
bicuspid AV
coarctation
215
triploidy paternal
69 XXY
microcephaly
216
maternal progesterone
fetal virilization
217
ROM- blood
fetal tachycardia
vasa previa
218
decreased vit K clotting factors
warfarin
phenytoin
219
increase distribution across placenta
increase lipid content
220
enzyme deficiency in criglar-najjar
glucoronyl transferase
221
distal ileum/cecum absorption
bile acids
222
minor malformation %
12%
223
cat eye
extra part of chr 22
TAPVR
downward slant palpebral fissures
anal atresia
renal agensis
224
Turner's
increased scoliosis
225
CF loss of what amino acid
phenylalanine on 507 ch 7
226
Mobius
b/l facial paresis 2/2 absence of nuclei 6 & 7
**expressionless face**
limb reduction
Poland sequence
227
Coloboma
micrognathia
scalp hair on cheek
Treacher Collins
228
microcephaly, abnormal cry
Cri du chat
chromosome 5 microdeletion of PATERNAL DNA
229
Toxo transmission
Early GA = lower transmission but more severe
230
CMV transmission
Early GA = higher transmission AND more severe
231
Tx gonococcal eye infection
1x ceftriaxone
232
sepsis
hyperbili
3 week old
galactosemia
E.coli sepsis
233
maternal varicella < 5d before delivery or < 2d after
isolate infant
give VZIG until maternal lesions crust over
234
vWF inheritance
AD
normal plt and PT
abnormal BT
235
pyruvate kinase D inheritance
AR
236
spherocytosis inheritance
AD
237
45 XO
47 XXY
increased risk of gonadoblastoma
(For turners if mosaic 46XY)
238
EPO production
liver > kidney at birth
239
elevated testosterone in XXX
aromatase deficiency
240
chylothoraxx fluid findings
high triglycerides
lymphocyte predominance
high protein
241
single umbilical arter
common in twins
1% in regular pregnancy
urogenital or cardiac
242
TGA
macrocephaly
triangular face
small arms
hypertelorism
vitamin A
243
non-immune hydrops fetalis
Cardiac 25%
244
L superior axis deviation
AV canal
tricuspid atresia
ASD
245
FA mature human milk
oleic acid
246
FT HC and length
HC = 35 cm
Length = 50cm
247
perinatal asphyxia activates
glycogenolysis
248
Chronic granulomatous disease test
NBT test
absent NADPH oxidase fxn in phagocytic cells
249
Sickle cell genetic defect
single nucleotide substitution
250
effect of PGE on kidney
increased renal blood flow
increase UOP
251
22q11 CHD
TOF
252
protein found in formula but not breastmilk
B lactoglobulin
253
cystic PVL
spastic diplegia
254
Neowrap
prevents evaporation losses
255
HCTZ
prevent calcium from being excreted and cause stones and elevated serum calcium
256
pupillary light reflexx
30-32 weeks
257
retinal development
26 weeks
258
absent anal wink
spinal cord lesion
259
parvovirus
affects erythrocyte progenitor cells = ANEMIA
260
parvo prevention
hand washing
261
myasthenia gravis treatment
anticholinesterase
262
PVL affects what cells
Pre- oligodendrocytes
263
Holt Oram
AD
ASD
abnormalities of bones of forearm
ABSENT thumbs
264
Congenital central hypoventilation
Hirschprungs
265
Neutropenia in Kostmann syndrome
treat with GCSF
266
cornelia de lange
AD
microcephaly
low set eats
clef
hypertrichosis
single nucleotide mutation in COHESION pathway
higher GER and malrotation incidence
267
inadequate intake with weight loss
hypernatremia
268
enzyme deficiency in breastmilk jaundice
beta glucuronidase
269
ECMO
hearing loss
270
warfarin
protein C deficiency
271
PTU - Graves disease
hydrops fetalis
272
HBF
resistant to alkali
273
purpura fulminans
protein C/S deficiency
274
athetoid CP
mixed tone
hearing and speech abnormalities
gross and fine motor affected
275
spastic diplegia
LE>UE
276
earliest finding in congenital glaucoma
enlarged cornea
277
crossed adductor disappears
8 months
278
most common cystic renal disease in newborn
MCDK
279
PDH complex inheritance
mitochondrial
280
SMA inheritance
AR
nonsense mutation in SMN1 on 5q13.2
281
neuroblastoma and liver mets
better prognosis than those without mets
282
syndromes with glaucoma
SW syndrome
NF
RB
homocystinuria
T21
rubella
stickler
corticosteroid exposure
283
completed optic myelination
24 months
284
hearing loss syndromes
alport
PR sequence
Waardenburg
TC
CHARGE
KF sequence
T8
T21
Stickler syndrome
285
prolonge dopamine use
reduced inotropic effect due to NE depletion
BLUNTS TSH
286
Epinephrine side effects
B2 effects
hyperglycemia
lactic acidosis
tachycardia
287
ductus arteriosus embryo
LEFT 6th aortic arch
288
persistent right umbilical vein
CHD
289
methadone
QTC prolongation
290
NBS thyroid
tests for elevated TSH
abnormal = > 40
291
TB treatment and breastfeeding
breastfeed after 2 weeks of treatment
292
RS/MAPK pathway
Noonan
NF
293
GNAS 1
McCune Albright
294
TMD associated T21
megakaryocytes
Tx with cytarabine
295
HFNC improves alveolar vent
dead space washout
reduced inspiration resistance
296
neutrophil gelatinase-associated lipocalin
AKI early marker
297
subclinical hypothyroid
Tx at 4-6 weeks if persistent
298
Increased neurodevelopmental outcomes
PDA tx
PDA ligation
299
sinusoidal FHR tracing
fetal anemia
300
metabolic bone disease
preterm infants
vitamin D 200-2400 IU
minimized aluminum as it disturbs normal bone formation
301
Crigler Najjar I
nonsense mutation
302
Crigler Najjar II
base substitutions coding regions
303
Gilbert
missense mutation
7 or more TA repeats
304
cold stress
NE release
vascoconstriction
305
Tuberous sclerosis
Cardiac rhabdomyoma
WPW
no embolic events
get better over time
do not enlarge spontaneously
306
CHD cat eye
TAPVR
307
CHD 22q11.2
interrupted aortic arch
308
CHD Holt Oram
ASD
309
CHD T13
VSD
310
CHD Ellis-van Creveld
common atrium
311
leukoreduced
decreases:
viral transmission
febrile nonhemolytic reactions
HLA alloimmunization
312
irradiation
reduces transfusion associated graft vs host
313
directed blood donation
transfusion assoc graft vs host
314
phentolamine
vasopressor extravasation
315
false positive galactosemia
G6PD deficiency
316
bloody emesis, epigastric distension and pain
gastric volvulus
317
Amphotericin B SE
hypokalemia
hypomagnesemia
hyponatremia
nephron and hepatotoxic
318
phenobarbital teratogen
cardiac
cognitive
orofacial
urogenital
319
carbamazepine teratogen
IUGR
developmental delay
microcephaly
cardiovascular
craniofacial
hypospadias
320
phenytoin teratogen
microcephaly, IUGR, short webbed neck, epicanthal folds, hypertelorism, oral clefts, malformed ears, hypoplastic phalynx, developmental delay, cardiac, GU, **finger like thumbs**
321
valproate
neural tube defects
cardia
GU- hypospadius
IUGR
ASD
cognitive impairment
skeletal anomalies
HIGHEST TERATOGEN POTENTIAL
322
small opacity lateral and inferior to pupil
Peter's Anomaly
complete corneal opacity
form of anterior segment dysgensis
abnormal cleavage of the anterior chamber
sclerocornea is usually b/l
323
renal function post-op
dependent on pre-op Cr
Low Cr associated with higher rates AKI
324
candida invasion
associated with GI perf
325
AT, protein C/S
reduced at birth
326
prolonged QT associated with...
V tach
327
Holt Oram gene
TBX5-12q24
AD
328
Noonan gene
PTPN11
329
neonatal portal venous thrombosis
liver lobe atrophy > portal HTN
330
imprinting disease risk
increases with fertility treatments
331
calcium absorption
duodenum
332
phosphorus absorption
jejunum
333
salt poisoning
hypernatremia
FENa > 2%
normal renal fxn
334
Diandric triploidy
IUGR
335
Dygynic triploidy
macrocephaly
336
looping
sinut inversus
337
convergence
truncus arteriosus
double outlet RV
338
wedging
TOF
outflow tract anomalies
339
delamination abnormalities
valvular problems like Ebstein
340
premature death causes
increase in incidence of NEC
decrease in pulmonary related deaths
341
soy based lipid
low DHA and AA
342
fish oil based lipid
adequate DHA
343
Abdominal surgical disorders
systemic yeast in ELBW
344
MRI after HIE
diffusion weighted 2-5 d
345
hyperinsulinism with low glucose
low beta hydroxy
low FFA
high cortisol
high growth hormone
346
cost effectiveness
NNT
347
cost benefit
cash money
348
cost utility
QALY
349
premature EPO
The tissue oxygenation set point triggering production of hepatic-derived erythropoietin is lower than that for renal-derived erythropoietin, which causes a lower responsiveness to tissue hypoxia.
Fetal erythroid progenitors are relatively more sensitive to erythropoietin than adult progenitors. A lower plasma concentration of erythropoietin is able to stimulate sufficient erythropoiesis.
Erythropoietin clearance is 2 to 4 times faster in preterm infants compared with adults, contributing to relatively lower plasma erythropoietin concentrations
350
Walker Warburg Syndrome
AR
congenital muscular dystrophy
lissencephaly
hydrocephaly
retinal detachment
cataracts
microphthalmia
encephalocele
MR
seizures
351
Neuroblastoma
May regress on own
serial US monitoring
352
congenital cataracts and severe hypotonia in a male neonate with a family history of severe renal disease
oculocerebrorenal syndrome
Lowe syndrome
x linked cryptorchid
353
fever
hepatosplenomegaly
cytopenia
Hemophagocytic lymphohistiocytosis
profoundly elevated serum ferritin
low NK cells
354
fungemia risks
SIP > lines or prolonged abx
355
POMT2
Walker Warburg (lissencephaly, myotonic dystrophy)
356
L1cam
x-linked hydrocephalus
357
neonate with PVL
oligodendrocytes affected
358
CP from PVL
spastic diplegia
359
alagille
eye findings: posterior embryotoxin
heart: PPS
JAG-1 mutation
360
LCPUFA
affect retina and brain
361
bactericidal in breastmilk
secretory IgA
lactoferrin
362
colostrum ratio
whey:casein
80:20
363
mature milk ratio
whey:casein
55:45
364
Preterm formula ratio
whey:casein
80:20
365
formula higher in what compared to human milk
Na, Ca, K, Cl, Mg, Ph, amino acids
366
HIE = decreased ?
phosphocreatinine
367
baby or fetus with hiccups
non-ketotic hyperglycinemia
