Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

My board review cards > Board Study Cards > Flashcards

Board Study Cards Flashcards

(108 cards)

Start Studying
1
Q

Describing oxygen dissociation curve

A

Left, higher affinity:
High pH, fetal hemoglobin, decrease 2,3 diphosphoglycerate, low CO2, decrease temp
Right, lower affinity.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Heart Block + Thrombocytopenia
what’s the disease

A

neonatal lupus
neonatal lupus rash
anti-Ro (SSA) and anti-La (SSB antibodies_
fetal effects are independent from severity of maternal illness
IUGR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

most common cardiac issue in Turner
most common severe cardiac issue
what’s the abnormalities with hand

A

bicuspid aortic valves
coarctation of the aorta
limb edema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

phases in lung development

A

Embryonic (0-5 wk)
Psudoglandular (5-16 wk)
Canalicular (16-25 wk)
Terminal sac (Saccular) (25-36 wk)
Alveolar and Vasculature (36 wk+)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what urea cycle defect is x-linked recessive

what about the rest of them

A

Ornithine carbamyl transferase (also most common)
(high urine orotic aice, high glutamine/alanine. low citrulline and arginine)

the rest are mostly autosome recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

CAH

A

if 1st is 1: –> HTN
if 2nd is 1: –> become male

21- normal BP, female with ambiguous genitalia
11 beta - HTN, female with ambiguous genitalia
17 alpha- HTN, male with ambiguous genitalia
3 beta- : incomplete male, ambiguous female, normal BP, salt wasting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

meoconium ileus and CF

A

90% patients with meconium ileus have CF.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

which thyroid compound does not cross placenta

A

TSH does not cross

T4, T3: infant make at 14-15 wks.

TRH can cross but only in small amount
T4 convert to rT3 by placenta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

respiratory quotient: low to high

A

low to high:
Fat, protein, carbonhydrate

RQ: CO2 produced / ox2 consumed
used in calculatin of basal metabolic rate (BMR)

Don’t confuse with energy production.
(energy production: fat is the highest)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

term infant:
high methionine
positive urine nitroprusside test

A

homocystinuria

methionine and homocystein high.

doward dislocated lens, osteoporosis, etc.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

false negative CCHD occurs when

A

hypoplastic left heart, coarctation to aorta, aortic stenosis.

all left sided cardiac lesions.

can have low perfusion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

vitamin E deficiency

A

hemolysis, anemia, reticulocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Vit B12 deficient

A

macrocytic anemia, hyper-segmented neutrophils

Terminal Ileum: nec kid at risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

photophobia, conjunctivitis could be due to what vitamin deficiency

A

a number of vitamins:
A, B, D.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

BPP (explain)

A

fetal movement: 3
breathing: > 30s, 1 breath
tone: 1 flexion/extension
Amionic fluid: 1> 2cm x 1cm

NST: reactive >/ 2 FHR, accel > 15 bpm, lasting >/ 15s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what can microarray detect

A

microdeletion or duplications, unbalanced translocation, aneuploides, some imprint

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Tzanck test

A

HSV

can also varicella, CMV

Look for Tzanck cells at base of lesion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Tricuspid atresia EKG

A

Left superior QRS axis: I, aVF
AV cannal
Tricuspid atresia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

primary respiratory alkalosis
what disease

A

Urea cycle defect.
central hyperventilation
(due to hyperrammonia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Northern analysis.
Southern blot.
Western blot
Eastern blot

A

Northern analysis: DNA probe digest RNA
Southern blot: DNA probe digest DNA
Western: antibody probe detect protein.
Eastern: probe to find protein modification.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

surfactant deficiency: most severe

A

surfactant: Protein B

A, B, C, D.
90% lipid and 10% protein.

also cause of lung issues:
ABCA2 transporter deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

newborn with:
lower eyelid colobomas
down-slanting palpebral fissues
mandibular hypoplasia
dysmporhpic ears
hearing loss

A

Tracher collin syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

zidovudine side effect in neonate

A

Macrocytoic anemia

6 weeks. 2mg/kg/dose

check hemolgobin at birth and 1 month.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

echogenic bowel: bright bowel. (white).
what’s possible cause

A

CF, aneuploidy (decrease bowel motility), CMV infection, IUGR, swallowed blood. (clotts)

If bowel is whiter than iliac bone, it’s echogenic.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Prader-Willi does not have what
Hydroneprhosis almond-shap eye, diminished DTR, hypogonadonism.
26
classic PKU lab: What is high, What is low what enzyme deficiency is present
high phenylalanine low Tyrosine, high urine phenylpyruvate (from excreted phenylalanine to urine) phenylalanine hydroxylase deficient. resource: can use ACT sheet from metabolic disease to help form ddx.
27
zinc deficiency
rash Acute zinc deficiency: dermatitis around **limbs, body orifices (mouth),** diarrhea, impaired immune function. Chronic zinc deficiency: liver and kidney failure. essential trace element, cofactor for enzyme, support: immune function. protein metabolosim, developmen of GI track.
28
maternal fever chocolate color amnionic fluid hispanic woman
Listeria 3rd leading cause of meningitis invade syncytitrophoblasts. pregnant hispanic women are 24 times more likely. placental microabscess.
29
gestational alloimmune liver disease (GALD)
GALD: prior sibling with disease maternal antibodies attack fetal hepatocytes. extensive fibrosis, proliferation of progenitor cell tubules. can do exchange transfusion process starts midgestation, resulting in liver failure and/or cirrhosis LFT normal. because hepatocytes have died. can give pregnancy women IVIG they act as in live failure
30
name some x-link dominant disease
fragile x, aicardi syndrome, incontinetia pigmentosa, Vitamin D -resistant rickets.
31
hypocalcemia cause what EKG abnormalities
prolonged QT
32
Anomalous L coronary artery to pulmonary artery EEG finding? Pathophysiology and why?
ALCAPA: Q waves: I, avL, V4-V6 ST segment elevtion. PVR low, flow reverses and now ferom left conoary art to PA --> ischemia.
33
Kerniterus sequence
hearing loss, extrapyramidal syndromes (athetosis and chorea) visual abnormalities (gaze palsies). abnormal dentition
34
mom with acute fatty liver disease of pregnancy (AFLD) and HELLP syndrome. infant at risk for
LCHAD deficiency (Long chain 3-hydroxacyl-CoA dehydrogenase) deficiency
35
why is G6PD elevated (false negative) in younger baby
severe hemolysis -> increase reticulocyte --> increase G6PD levels. G6PD activity higher in younger immature RBCs even if have G6PD def. hemolysis from G6PD is self-limited a younger TBD more resostant t to hemolysis.
36
Salt and pepper retina
Rubella Syphillis depigmentation and pigmentation
37
Blue-diaper syndrome
abnormal intestinal tryptophan transport blue urine
38
Alaskan Eskimos (infection)
Hep B (Alaskan Eskimos are not impacted by Hep B as much)
39
Blueberry muffin
CMV
40
Celery-stalking long bone
Rubella
41
Popcorn-snowflake intra-cranial calcifications
Toxo
42
Greek-helmet facies
Wolf Hirschohorn
43
Mitten hands/feet
Aperts
44
Cloverleaf skull
thanatophoric dysplasia (a type of achondroplasia) Pfeiffer, Crouzon
45
Pili torti
Menkes disease (X-linked recessive disorder that causes copper deficiency. Copper build up kidney and intestine) Pili Torti: fragile hair. flattened shaft with clusters of narrow twists at irregular intervals
46
Testes at “12” (by 12 year of age)
5-alpha reductase deficiency
47
Seal bark cry
> tracheomalacia need to look for esophageal atresia
48
Stippled epiphyses
coumadin
49
Hockey stick palmar crease
fetal EtOH
50
Patellar stippling
Zellweger's
51
Snuffles, saber shins, Hutchinson’s teeth
syphilis
52
x-ray: single bubble double bubble triple bubble
- Single bubble > pyloric atresia - Double bubble > duodenal atresia - Triple bubble > jejunal or ileal atresia
53
Apple core/string sign
pyloric stenosis
54
“filling defects” on barium enema
meconium plug
55
Northern European mother-infant with anemia
sphero/elliptocytosis, pyruvate kinase deficiency.
56
Navajo Indian
congenital Met Hb
57
chocolate blood
metHb
58
Finnish or Amish/neutropenia
Cartilagehair-hypoplasia
59
Sodium valproate (Depakote)
NTD, limb defect
60
Digoxin toxicity
feeding intolerance, any arrhythmia
61
Boggy placenta
syphilis, congenital nephrotic syndrome
62
3/E - sign
coarctation
63
heart on CXR: snowman Boot Egg
Snowman-TAPVR, Boot-TOF, Egg-TGA
64
Howell-jolly bodies
no spleen
65
Heinz bodies
denatured Hb, enzyme defect Ex: Thalassemia, G6PD
66
Banana/lemon sign on prenatal US
meningomyelocele
67
Mouse urine odor
PKU
68
Sweaty feet (odor)
Isovaleric academia, Glutaric aciduria type 2
69
Urine succinylacetone elevated
tyrosinemia
70
Male cat urine smell
Beta-methylcrotonyl glycinuria
71
Meckel-Gruber Syndrome
encephalocele Other: This rare AR lethal malformation characterized 1. occipital encephalocele, 2. bilateral polycystic kidneys 3. post axial polydactyly.
72
Dive bomber EMG
congenital myotonic dystrophy
73
Corkscrew upper GI
malrotation
74
Lithium
Ebstein's
75
Elfin facies
William’s syndrome
76
Expressionless facies
Mobius
77
Cataracts and hepatomegaly What metabolic disease?
Galactosemia
78
Retrograde aortic flow (as in aorta) on echo
HLHS
79
T18 and T 21 quad screen
T21: low AFP, high beta-HcG, low estradiol, high inhibin T18: normal inhibin, rest are Low Quad cannot diagnose other conditions
80
Division of zygote and type of twins
Days: 0-3: di-di 3-8: mo-di 8-13: mo-mo 13-15 or more: conjoined
81
double walled incubator
deacrease **radiant** heat loss
82
place infant in isolette (as to open radiant warmer)
decreas **convective** heat loss (air)
83
Lab in 21-hydroxylase deficiency
^ 17-OHP (17-OH progesterone) Even after ACTH stim, ^ 17-OHP Salt wasting
84
Lab in 11 beta-hydroxylase deficiency
^ DOC and deoxycortisol
85
Lab in 17 alpha-hydroxylase deficiency
^ DOC, ^ corticosterone, Low 17-OHP, low 17-OH pregnenolone
86
3 beta-hydroxyesteroid dehydrogenase deficiency
Ambiguous genitalia for male AND female Normal BP, salt wasting ^ 17-OH pregnenolone, pregnenolone, DHEA
87
Normal PT, PTT, plt. But infant bleed, what factor deficiency?
Factor XIII deficiency
88
Site of EPO production in fetus and neonate
Fetal liver Change to kidney in 3rd trimester But Liver > Kidney in general
89
Stem cell is from where?
Mesoderm
90
Hematopoiesis sites fetus
Secondary yolk sac (16 days to 8 wk) Liver (6 wk - 22 wk) Bone marrow (start at 8-19 wk. primary after 22 wk)
91
Most common inherited kidney disease
Autosomal **dominant** polycystic kidney disease Don’t normally present in neonate period
92
Infectious causes of cataract
Rubella, HSV, Varicella, Toxo
93
Metabolic causes of cataract
Galaxtosemia Galaxtokinase deficiency T21? Smith-lemli-Opitz Stickler WAGR Lowe syndrome (oculocerebrorenal syndrome)
94
Pompe disease, what lab is elevated
Creatine phosphokinase
95
how can you tell the differencd between carbamyl phosphate synethase deficiency vs. Ornithine carbamyl transferase deficiency
Ornithin carbamyl transferase deficiency has higher urine/plasma **O**rotic acid It's also most common. x-link recessive.
96
Preeclampsia vs. severe preeclampsia
SBP>140 or DBP>90 plus proteinuria (>300 mg or dipstick 1+) SBP>160 or DBP>110 plus proteinuria (>5000 mg (24hr))
97
Fetal Finding: SGA/IUGR, large placenta, elevated AFP Neonatal Finding: severe protein uria, hypoproteinemia, hyperlipidemia what is this? genetic pattern (and gene) infant at risk for what?
**Congenital nephrotic syndrome, Finnish Type** *AR (NPHS1)* also immunocompromised (loss immunoglobulins) and thrombosis (loss anti-coagulation proteins) --> need dialysis and renal tranplant. *Diffuse mesangial sclerosis: similar presentation. but no in utero finding. present later*
98
Lowe Syndrome
oculo-cerebro-renal syndrome - Eye: cataracts, glaucoma - Nervous: hypotonia, areflexia, mental deficiency - Kidneys: tubular dysfunction, proteinuria, amnioaciduria, **congenital neprhotic syndrome** - Reproductive: cryptorchidism *x-link recessive* elevated maternal and amniotic AFP (like congenital nephrotic syndrome finish type). Golgi apparatus
99
triangular facies, protruding ears, large eyes w/ strabismus, drooping mouth polyhdramnios What syndrome is this? what eletrolyte abnormalities?
Bartter syndrome hypokalemia, metabolic alkalosis, hypercalciuria. (also hypo Na, hypoCl, hypoMg, hypoCa) -> severe salt wasting, hypotention. -> polyuria. (affect loop of Henle, Na, Cl, and K transport).
100
ARPKD is associated with what?
congenital hepatic fibrosis biliary dysgenesis. (prenatal ultrasound shows abnormal kidney until later in gestation. vs. MCDK, has bad ultrasound earlier in GA, 20 weeks)
101
MCDK is normally associated with what?
urinary tract abnormalities i.e. VUR vesicoureteral reflux
102
Renal development: differentiate the below. pronephros **meso**nephros **meta**nephros Nephrogenesis complete by __ GA
- Pronephros: goes away by 4 week - Mesonephros: 1. ureteric buds: collecting duct (w/o ureteric bud, renal agensis) 2. seminal vesicles/ GU structure - Metanephros: definitive kidney (*T*rue kidney) 35-36 weeks.
103
what hematological abnormalities is found with Fatty acid deficiency?
Thrombocytopenia! *FAD has rash（scaly rash), like zinc deficiency. but it has low Plt too! * *the symptoms of FAD showes up earlier, in a couple week. Zinc deficiency in a couple months*
104
Thalamic hemorrhage
Cerebral sinovenous thrombosis
105
What gestational age is maximal rate of growth
28-32 weeks
106
PVL in premie. What type of cerebral palsy
Spastic DIPLAsia (lower more affected than upper)
107
Narrow pulse pressure Vs Wide pulse pressure
Narrow: tamponade (cardiac) Wide: tension Pneumo, PDA
108
DTGA, triagnular face, cirotia, epicantha folds, smaller arm, macrocephaly what maternal drug expsoure
Isotrtinoin.

My board review cards (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions