NICU boards cards 1 Flashcards
1
Q
What types of shock can sepsis present as?
A
Hypovolemic or distributive
2
Q
In hypovolemic shock, what are the changes in CO, ventricular filling, and stroke volume?
A
Ventricular filling: decreased
CO: decreased
SV: decreased
3
Q
In distributive shock, what are the changes in circulating blood volume and ventricular filling?
A
Ventricular filling: decreased
Normal circulating blood volume
4
Q
What type of heart sound occurs with PHTN?
A
single or narrowly split, loud S2
5
Q
What is the first and second most common cyanotic heart disease presenting in 1st week of birth?
A
1st: TGA
2nd: HLHS (this is most common cause of mortality in 1st week)
6
Q
What is most common overall congenital heart defect? What type is most common?
A
VSD
peri membranous - muscular most likely to close
7
Q
What is most common cyanotic heart disease beyond infancy?
A
Tetralogy of Fallot
8
Q
What are the L to R shunt congenital heart defects?
A
VSD, PDA, ASD, complete AV canal, Partial anomalous pulmonary venous return
9
Q
What is L-TGA?
A
- congenitally corrected heart disease, «1% of all congenital heart disease
- aortic valve is to LEFT (hence L) of pulmonary valve
- no need to have shunt between 2 circulations
- high assoc w other cardiac defects
- acyanotic w mnimal resp distress if no other issues - but majority will have other cardiac defects so will be cyanotic
- single S2
10
Q
Most common type of prenatal poor tracing?
A
Variables
11
Q
With what cardiac anatomy do you have reversed differential cyanosis?
A
D-TGA with PDA, intact ventricular septum, and one of the following:
- PHTN
- coA
- interrupted aortic arch
12
Q
What murmur with DTGA?
A
Loud and sigle S2
- loud bc aortic valve below sternum & anterior
- single: pulmonary valve is posterior and not heard
13
Q
DTGA: is there CHF? What type of hypertrophy?
A
Yes CHF secondary to left sided overload
RVH, can have R atrial hypertrophy and can also have combined ventricular hypertrophy if large VSD PDA PS LVOT obstruction
Has R QRS axis
14
Q
What type of VSD is found in TGA?
A
Typically perimembranous, always large and unrestrictive, so LVP equal RVP’s
15
Q
Murmur with tetralogy?
A
PS murmur only if small, VSD murmur if pink tet (since effect of L->R VSD shunt will be more minimal), otherwise S2 often single and loud (because aorta is anterior when overriding)
16
Q
Murmur with pulmonary atresia with intact ventricular septum?
A
Single s2, no other murmur
17
Q
EKG with pulmonary atresia with intact ventricular septum?
A
Normal QRS axis
(TA has a superior/R axis)
LVH, RVH since RV is hypoplastic and hypertrophied in most cases
18
Q
How does mixing occur with pulmonary atresia with intact ventricular septum?
A
Requires ASD/PFO with PDA to survive
19
Q
How does mixing occur with truncus arteriosis?
A
Large VSD ALWAYS present
20
Q
What kind of pulse pressure with truncus arteriosis?
A
Wide pulse pressure and bounding pulses from diastolic runoff in PA
21
Q
EKG findings with tricuspid atresia
A
L axis deviation
22
Q
Ebstein’s anomaly - what types of shunts?
A
80/90% have ASD with R to L shunt
Also requires PDA with L to R flow for adequate pulmonary blood flow
23
Q
EKG findings with Ebstein’s
A
RBBB, WPW, RA enlargement, occasional 1st degree AV block
24
Q
What other anomalies is single ventricle associated with?
A
Higher risk of asplenia or polysplenia
25
What causes a single S2?
- When one valve is absent, like in pulmonary atresia or truncus arteriosis
- or when both valves close at same time due to equal ventricular pressures, like double outlet single ventricle or VSD with equal ventricular pressures
26
What shunts are required for systemic oxygenated blood flow with TAPVR?
ASD or PFO (R to L shunt)
27
Types of TAPVR?
Supracardiac (most common) - PV to SVC via innominate, azygous, or direct
Cardiac - PV into RA directly (or indirectly via coronary sinus)
Infracardiac/Subdiaphragmatic - PV crosses diaphragm, drains into portal/hepatic vein or IVC
Mixed
28
Presenting sxs of obstructive TAPVR
Majority subdiaphragmatic/infracardiac are obstructive
- cyanosis
- resp distress
- decreased systemic perfusion
29
Presenting sxs of nonobstructive TAPVR
Majority cardiac or supracardiac are nonobstructive
- mild to mod cyanosis (depending on degree of mixing across ASD)
- wildely split and fixed S2 - quadruple rhythm
30
Most common cause CHF after 2nd week of age?
VSD
31
What are the constrictors of PDA?
O2, PGF2a, acetylcholine, bradykinin
32
What are the dilators of PDA?
PGE1, PGI2 (prostacyclin), hypoxemia, acidosis
33
What is the ekg finding with complete av canal?
Left superior (left atrial) QRS axis bc of posterior and inferior rotation of AV node and anatomical abnormality of HIS bundle. Often has 1st degree AV block/prolonged PR
RVH, +/- LVH
34
is PAPVR symptomatic?
Often asymptomatic, usually ASD murmur with fixed split S2, can have increased heart size, amt of pulm blood flow dependent on # of anomalous pulm veins, ASD size and presence, and degree of PVR
35
#1 cause of late onset sepsis
coagulase negative Staph
36
EOS has greater risk of what organ involvement? LOS?
EOS: pneumonia
LOS: meningitis
37
Most common 2 organisms causing EOS?
1. GBS, 2. E.coli
38
Most common site of origin of osteomyelitis?
Metaphysis
39
Most common serotype of GBS infx?
serotype 3
40
Most common bones for osteomyelitis?
Femur>hyumerus>tibia>radius>maxilla
41
Etiologies of osteomyelitis or septic arthritis (HIGH YIELD)
1. hematogenous spread s/p bacteremia
2. directly puncture wound
3. spread from adjacent infx
42
Most common E.coli antigen leading to meningitis?
K1 antigen
43
When is onset of chemical conjunctivitis?
within 24h of exposure
44
Which is earlier timing of onset, gonorrhea or chlamydia conjuntivitis?
Gonorrhea, 2-5 days of age
45
What is the most common cause of conjunctivitis in month 1 of age?
Chlamydia (much more common than gonorrhea)
46
How to diagnose chlamydia conjunctivitis?
Giemsa stain of conjunctival scrapings
47
How to treat gonorrhea conjunctivitis?
3rd generation cephalosporin
(prevent with prophylaxis - prophylaxis does not completely prevent chlamydia conjunctivitis)
48
How to treat chlamydia conjuncivitis?
oral erythromycin x 14 days
49
Which is worse - gonorrhea or chlamydia conjunctivitis?
Gonorrhea - No Good - medical emergency, can progress to involve cornea and ulceration/perforation
50
What type of bacteria is GBS
gram positive dipococci in chains and pairs, catalase neg
51
What type of bacteria is Listeria
Gram positive rod
52
What type of amniotic fluid w Listeria?
chocolate colored or meconium-like stained amniotic fluid
53
Why do brain imaging of Listeria meningitis?
Brain abscess, which would prolong tx course
54
what type of bacteria is Neisseria gonorrhea?
Gram negative intracellular diplococci in pairs
55
What to do in asymptomatic neonate born to mother with untreated gonorrhea?
1 dose ceftriaxone
56
What type of bacteria is chlamydia?
obligate intracellular bacteria - not detectable by gram stain
57
What to do in asymptomatic neonate born to mother with untreated chlamydia?
Nothing until infant develops clinical signs of infection; efficacy of prophylaxis is unknown
58
How is syphilis transmitted?
Majority transplacental, can be contact w active lesion at delivery
59
how is congenital TB spread?
It is rare but
1. hematogenous via placenta
2 ingestion of infected amniotic fluid
60
Gram stain/type of bacteria of bordatella pertussis?
gram negative pleomorphic bacillus
61
CBC findings in pertussis?
lymphocytosis
62
Type of bacteria of clostridium botulinum
anaerobe gram positive bacillus
63
Diagnosis of clostridium botulinum?
detect toxin in stool or stool culture
64
Pathophysiology of how c. botulinum works?
toxin inhibits release of Ach from nerves
65
How to treat c. botulinum?
human derived IV botulism immune globulin
66
Type of bacteria of clostridium tetani?
gram positive bacillus
67
Pathophysiology of how c. tetani works?
releases tetanus toxin that blocks gaba release in neuromuscular junction
68
Treatment of c. tetani?
tetanus immune globulin to neutralize circulating toxin and parenteral Pen G 0-14 days
69
Type of bacteria of ureaplasma urealyticum?
small pleomorphic bacteria that lack a cell wall
70
Type of bacteria of H flu?
gram negative coccobacillus, both encapuslated or unencapsulated/nontypeable (most common)
71
What should be given in H flu meningitis?
dexamethasone to decraese risk of hearing loss before or with first dose abx
72
what does vitamin A do?
pulmonary epithelial growth & cellular differentiaion
may play role in CLD,
deficiency: photophobia, scaling, abnl epiphyseal bone formation and tooth enamel
73
B1 thiamine imp for?
Beri Beri - "B" like blueberry very round like cardiac failure and constipation, fatigue, irritability
assoc w pyruvate dehydrogenase complex def iciency and maple syrup urine disease
74
B2 riboflavin imp for?
B2 is like seeing double - blurry vision. dermatitis and mucositis, assoc with glutaric aciduria type 1
75
B6 pyridoxine
hypochromic ANEMIA, dermatitis, mucositis, seizures, homocystinuria "homoSIXtinuria"
76
B7 Biotin
alopecia, dermatitis, scaling, seborrhea, assoc w biotinidase deficiency, propionic acidemia, and the most metabolic derangements
77
Vitamin C
scurvy, poor wound healing, bleeding gums, assoc w transient tyrisonemia "TANGERINES which are CITRUS"
78
Holder pasteurization destroys what in donor milk?
lymphocytes, alk phos, lipoprotein, some lipases, Immunoglobulin M all Melted, cytokines, growth factors, lactoferrin reduced by 50%, lysozyme reduced by 25%
what is preserved - most of IgA and IgG, oligosaccharides, vitamins ADE (fat soluble), lactose, long chain polyunsaturated FAs LPUFAs, epidermal growth factor
79
What does microwaving milk reduce?
IgA, all immunoglobuins, lysozyme, and vitamin C. Nothing else is stable with microwaving
80
Hindmilk contains - more/less protein, fat, lactose?
More fat, less lactose, same protein,
81
Most common cause of neonatal late onset UTI?
Ecoli
82
Treatment of UTI in neonates
amp/aminoglycoside, should be IV due to high assoc of sepsis with UTI
83
function of sertoli cells in sexual differentiation?
regression of mullerian duct to steer fetus toward male dev
84
function of leydig cells?
testicular development and wolffian duct differentiation. Leydig cells are LIT (produce INS3 & L3 -> testicular, testosterone -> wolffian duct)
85
Wolffian ducts develop into?
epididymis, vas defersn, ejaculaltory duct, seminal vesicles
86
SRY gene function?
lead to differentiation of gonads to testes
87
What does 5a reductase do?
convert testosterone to DHT.
88
Most common cause of hypertension in neonates?
renal artery thrombosis
89
Anatomic dead space
lung areas not involved in gas exchange
90
Alveolar dead space
alveoli not involved in gas exchange with vasculature (V/Q>1)
91
physiologic dead space
anatomic + alveolar dead space, or wasted ventilation. physiologic dead space is always greater than anatomic dead space
92
Embryonic phase lung dev
0-5w, resp tract forms from endoderm****, lung forms from ventral bud of esophagus,
pulm blood vessels and smooth muscles from mesoderm
93
Pseudoglandular
fetal lung fluid begins to form, separation of thorax and peritoneal cavity, onrespiratory bronchioles form/all large airways up to terminal bronchi established, vasculature begin to est
94
Canalicular
~15-25w, respiratory bronchioles form - distal epithelium/pneumocytes begin to differentiate (type II pneumocytes vegin to differentiate into type I), units of gas exchange begin to develop - lamellar bodies begin to appear and store surfactant, surfactant production begins ~24w, at this time there is an adult # of airways (bronchi, etc all complete)
95
Saccular stage
~25-35w, last generation of air spaces, multiple sacs beginning to form from terminal bronchioles. At 32w you have enough surfactant to prevent atelectasis, the surface of gas exchange matures into alveolar ducts. capillaries invade alveolar membrane
96
Alveolarization
36w - age 3 to 8y, increase in bronchioles and alveoli mature from alveolar sacs, microvascular growth and vessel maturation
97
What substances enhance lung development?
thyroxine, vitamin A
98
What delays alveolarization?
postnatal steroids, oxygen, nutritional deficiencies, mech ventilation, insulin, inflammation
99
What issues occur in embryonic phase of lung dev?
(ventral bud forms from esophagus - things are supposed to separate)
laryngeal clefts, TEF, bronchogenic cysts
100
What issues occur in pseudoglandular phase of lung dev?
***congenital diaphragmatic hernias, branching abnormalities, congenital lobar emphysema, cystic malformations, pulmonary lymphangiectasias
101
What issues occur in canalicular phase of lung dev?
surfactant deficiencies, pulmoary hypoplasia, alvolar CAPILLARy dysplasia
102
What issues occur in alveolarizaion phase of lung dev?
vasculature is maturing - pulmonary hypertension
103
Most physiologically active componnt is
DPPC 50% phosphatidylcholine, overall 70-80% phospholipid
10% surfactant, 10% cholesterol
104
type I pneumocytes shape
long flat thin, make up majority of surface area but there are fewer in number, gas exchange bt alveoli and capillaries
105
type II pneumocytes shape
chunkier (number II is chunkier than type I)
106
What inactivates surfactant?
meconium asp, pulm hemorrhage, pneumonia/sepsis
107
How does meconium aspiration inactivate surfactant
phospholipase A2 in meconium competitively displaces surfactant from alveoli
108
How does pulmonary hemorrhage inactivate surfactant?
neutrophils released following endothelial damage from blood -> free radicals that directly damage type II cells
109
Which surfactants critical for surfactant function?
SP-B and SP-C
110
Bartter's syndrome?
polyhydramnios, triangular eyes, strabismus, hyponatremia (severe salt wasting, treat by taking salt tblets), hypochloremia, hypokalemia, metabolic alkalosis, hypercalciuria (**get this since Na Cl and K not being reabsorbed and you have to balance the anions that build up)
111
What is urine production rate in a 20w infant and term infant?
5ml/h at 20w and 50ml/h at term gestation
112
What branchial arch does ductus arteriosus form from?
6th
113
How many nephrons at birth?
1 million (at 34w)
114
Why can't neonates concentrate urine?
Insensitivity to vasopressin, short loop of henle (which usually reabsorbs), low osmolality of medullary interstitium, low serum urea
115
What moves oxyhemoglobin dissociation curve to left?
LOW (low acidity, low paCO2, low 2,3 DPG, low temp
116
What is physiologic dead space?
alveoli + anatomic dead space.
117
what is imp for pulm epithelial growth and cellular differentiation?
vitamin A.
118
Vitamin D
assoc w rickets, FTT, poss tetany
119
Hind milk?
high fat, equal protein, less lactose (body wants baby to get more simple sugars first)
120
What % of caloric content is fat responsible for in breastmilk?
Fat responsible for 50% of caloric content of breast milk
121
Do triglycerides or cholesterol vary by diet and age in breastmilk?
triglycerides
122
Chromium?
regulates glucose levels. CHROME is shiny like hersheys kisses
123
Copper?
Anemia & neutropenia, depigmentation of hair/skin, ataxia & hypotoni. Copper penny - critical for production of red blood cells and absorption of iron
124
Manganese?
Enzyme activation of superoxide dysmutase
125
Selenium?
Cofacter for glutamine peroxidase, deficiency is cardiomyopathy. Selena broke your heart
126
11 beta hydroxylase deficiency?
Elevated testosterone, cortisol deficiency, Do not need to replace mineralocorticoids because DOC are very good mineralicorticoids. No salt wasting, able to retain sodium. Can present with hypertension. Still need to replace glucocorticoid
2nd most common common
127
Erb's palsy nerve roots
C5 & c6 (sometimes c7)
128
bitemporal wasting, hypotonia, poor suck with poor feeding, poor weightgain, excessive sleepiness, almond shaped eyes, narrow nasal bridge, small hands and feet, lightly pigmented skinhair, cryptorchidism small phallus, small labia minora and clitorus
Prader willi neonatal presentation
129
Abnormal methylation studies c/w?
prader willi. All due to imprinting/methylation on 15q11. 75% of cases caused by microdeletion of paternally inherited 15q11 OR 15-20% of ases from uniparental disomy where both copies of chromosomal region inherited from the mother
130
CTG trinucleotide repeat expansion in DMPK
myotonic dystrophy DM1 (autosomal dominant, hypotonia, resp failure, feeding difficulty, mothers with stiff handshake/grip and myopathic facies
131
Elevated creatine kinase, hypotonia, weakness, resp insufficiency, hypertrophic cardiomyopathy, feeding difficulty, macroglossia, hepatomegaly, hearing deficits
Pompe disease/glycogen storage disease type II. Deficiency of alpha glucosidase
132
Hirschsprung's is a defect in what?
Lack of ganglion cells, 80% rectosigmoid,
133
What opens PDA?
acidosis/sepsis, prostacyclin, prostaglandin E1
134
What closes PDA?
Oxygen, prostaglandin f2a, acetylcholine, bradycholine
135
Atrial flutter - pattern, treatment
multiple sawtooth p waves after QRS.
treatment is waiting, then cardioversion or esophageal pacing if unstable. Long term digoxin. No ice to face bc atrial flutter doesnt involve AV node
136
What part from embryology is invovled in renal agenesis?
ureteric bud
137
tuberous sclerosis
Ash leaf spots, enamel pits and teeth*, cardiac rhabdomyomas, CNS tumors, eye involvement, seizures, mental deficiencies, renal aomalies
chromosomes 9 & 16*, autos dominant
138
neurofibromatosis
cafe au lait macules - hyperpigmented, chromosome 17, axillary freckling, macrocephay, aqueductal stensosi, neuromas, fibromas, pheochromocytomas
139
Names of genetic sydromes caused by Microdeletions
William D Warp MD, williams syndrome, DiGeorge, WAGR, Angelman, Rubenstein Taibe, Prader Willi, MicroDeletions
140
leukocyte adhesion defiicency
too much ADHESION of umbilical cord (delayed cord separation), abnormal neutrophil function even though they have normal amts of neutrophils, neutrophils can't grab onto blood vessels and adhere to leave circulation, bacterial infections and poor wound healing
141
chediak higashi
abnl neutrophil degranulation leading to abnl phagocytosis, large intracytoplasmic granules in white cells, partial oculocutaneous albinism, nystagmus, peripheral neuropathy, bacterial infx
142
chronic granulomatous disease
X linked causing NADPH oxidase issue, increased abscesses, granulomas
143
hyper IgE
Job's syndrome, abnl chemotaxis (pay TAXES for your job), E for eczema, coarse facial features
144
Kostmann syndrome
german Krig (K kostman, R= autos recessive, I=infxs, G=treat w GCSF), severe congenital neutropenia (anc<500), first few months of life lots of bacterial infx like utis abscesses, developmental delay and myelodysplsatic syndrome
145
buzzwords with Listeria
chocolate colored or meconium-like stained amniotic fluid, microabscessess, tend to be pneumonia early and meningitis late
146
Most common blood vessel affected in neonatal stroke
left MCA
147
Syndromes with glaucoma
Sturge Weber, trisomy 21, NF, congenital rubella, stickler syndrome, long term corticosteroid use, retinoblastoma
148
Sturge Weber
glaucoma, port wine stain - if includes forehead eye maxillary area there is 50% chance of glaucoma, seizures
149
Beckwith Wiedemann - features, chromosome?
Hemihypertrophy, LGA, macroglossia, hypoglycemia, ear pits or tags, omphalocele,cardiomyopathy, wilms tumor, hepatoblastoma, wilm's tumor, exopthalmos, malrotation
Chromsome 11
150
Hurler syndrome
corneal clouding, mucopolysaccharidoses/lysosomal storage disease, skeletal abnormalities (the HURLER who throws), heart disease, resp problems, deafness
151
Leukocoria - what is most common cause and congenital infx associated?
Most common are cataracts (also retinal detachment, hemorrhage).
Rubella
152
Hyoptonia and undescended testes
PWS
153
Prader Willi
almond shaped eyes, hypotonia, poor feeding, small hands and feet, bitemporal wasting/low muscle bulk
Uniparental disomy - receives both copies from mother
154
Angelman syndrome
Happy puppet -jerky movements/ataxia, happy demeanor, hypotonia, mental deficiencies, seizures, protruding tongue, maxillary hypoplasia,
155
disorders of glycosylation
hypotonia, failure to thrive, strabisumus, cardiomyopthy, hypoglycemia, seizures
156
myotonic dystrophy
hypotonia in skeletal and cardiac muscle, lots resp failure, feeding difficulty, generalized muscle weakness, contractures, masklike facies, mothers also with mytotonic facies firm handshake
trinucleotide CTG repeats***, worse with repeat generations
157
SMA
anterior horn issues, motor delays, early death from respiratory compromise, muscle fasciculations, generalized weakness, joint contractures, absent deep tendon reflexes
SMN genes
158
Preterm formula whey:casein?
60:40 to 80:20 range, mature breast milk about 55:45
159
Copper deficiency
Anemia (copper is red like a penny which looks like rbc), neutropenia, osteopenia
Menke's disease - x linked disorder with severe Cu deficiency
160
Drugs that are absolute contraindications to breastfeeding
illicit drugs where regimen not being followed/controlled
161
Vitamin E deficiency
hemolysis, anemia, reticulocytosis with giving iron. Given with epo (Epogen starts with E)
162
Vitamin B12
macrocytic anemia
163
Preterm breast milk vs term milk
Less lactose, more Na Cl, less cholesterol, more long chain PUFAs, more protein
164
Kcal/g in fat?
9
165
kcal/g in carbs?
3.4
166
kcal/g in protein?
4 (like someone flexing bicep)
167
In tpn cholestasis, what to reduce and what to increase in tpn?
decrease Manganese Copper, Inc zinc
168
In renal insufficiency, what to reduce in tpn?
decrease chromium & selenium
169
function of jejunum?
absorb protein, some fat, carbs, iron Ca Mg
170
fx of ileum?
B12, bile salts, absorb fat-soluble vitamins, can compensate somewhat for jejunal resection
171
Ileocecal valve fx?
regultes transit time, keeps reflux of colonic bacteria
172
colon fx?
water and electrolyte resabsorption
173
placental lactogen fx?
plays most imp role in metabolic and nutritient of fetus from placenta, creates insulin resistance causes high glucose & lipids which then upregulates insulin. High insulin promotes adiposity. placental lactogen is regulated by insulin like growth factor
174
What are the essential fatty acids?
linoleic and linolenic acids
175
essential fatty acid deficiency?
dermatitis, alopecia, thrombocytpoenia, FTT, bacterial infxs
increased triene to tetraene ratio
176
long chain PUFAs - omega 6 and 3 imp in brain and retinal
- omega 6 and 3 imp in brain and retinal
177
what meds induce p450?
phenobarbital, phenytoin, rifampin, dexamethasone
178
what meds inhibit p450?
chloramphenicol, simetidine, erythromycin, fluconazole, ranitidine, omeprazole
179
Caffeine mechanism of action in dec apnea of prem**
adenosine antagonism, decreased hypoxic ventilatory depression, enhanced diagphragmatic contractility from stimulation of Ca release, increased minute ventilation, inhibits GABA receptors
180
large tongue, hepatomegaly, hypotonia, enlarged heart
pompe disease
elevated cpk
181
deletion on chromosome 11
WAGR. Wilms, aniridia, GU anomalies, mental Retardation
182
DiGeorge
CATCH 22, 22q11.2 deletion. Cardiac (conotruncal arch abnormalities, vsd, pda, tof), Abnormal facies (micrognathia), Thymic aplasia/hypo, Cleft, Hypocalcemia (from hypoplastic parathyroid glands)
deficient cellular immunity, esophageal atresia, dev delay, learning abnormalities
dx by FISH
183
How do amino acids cross placenta?
active transport by tranporters
184
How do lipid soluble compounds cross placenta?
Diffusion based on maternal concentrations
185
How do hydrophilic compounds cross placenta?
Transported through transtrophoblastic channels
186
how does glucose cross placenta?
facilitated diffusion by GLUT1
187
Effect of dobutamine on CO, HR, contractility
higher HR, contractility, higher BP, increase in cardiac output, no change in SVR
188
Ca Ph how cross placenta?
Active
189
Fat soluble vitamins and lipids how cross placenta
Simple diffusion
190
How do most meds cross placenta
Simple diffusion
191
Water soluble vitamins how cross placenta?
Active transport
192
Quad screen in trisomy 21
inhibin A high, bHCG high, low AFP, low estriol
193
Quad screen in trisomy 18
all low, normal inhibit A
194
Werdnig Hoffman
SMA type 1, anterior horn atrophy of motor units on biopsy, autos recessive, severe generalized hypotonia, frog leg position, legs >arms, proximal>distal, marked head lag, bulbar weakness (poor suck swallow, tongue fasiculations, hoarse cry), absent DTR
195
ACQUIRED neonatal myasthenia gravis - what is passed from mother?
clinical presentation?
anti Ach receptor antibodies
most require anticholinesterase therapy
in utero or at birth - poor resp failure, inbility to swallow or handle secretions, weak cry
duration of illness 2 weeks
196
CONGENITAL myasthenia gravis
due to genetic defect - either autos recessive or familial infantile myasthenia (rare)
197
Duodenal atresia- what embryonic process and where in duodenum does it occur?
2nd part of duodenum and failure of recannulization in 2nd mo of gestation
198
Which values decrease with increase GA and BW? total BW, extracellular water, intracellular water, Na, Cl
Decrease: total BW, extracellular, Na, Cl
Increase: intracelluluar
199
Human colostrum vs cow's milk - levels of whey:casein, Na, K, Ca, Cl
colostrum 80:20, less Na, K, Ca, Cl, less protein, less lactalbumin
cow's milk 20:80
200
Which substances improves surfactant synthesis? estrogen, indomethacin, pge1, thyroid hormones, steroid hormones
all except indomethacin
201
Heinz bodies
g6pd (small dark circles in rbcs)
202
Features of beckwith wiedemann
umbilical hernia, lateral overgrowth, LGA, protruding tongue, nevus flammeus, b/l earlobe creases, persistent hypoglycemia
chromosome 11p15.5 in 85%
203
side effects of pge1 - initial infusion and longer term?
initial infusion: hyperthermia, apnea, hypotension, bradycardia, seizures, apnea
later (after 9d): cortical hyperostosis, gastric outlet obstruction,
204
presenttion of vitamin k deficiency
prolonged PT, normal platelets, normal fibrinogen
205
Embryology of duodenal atresia?
failure of recanalizaton of intest tube in 8-10w gestation
206
What part of duodenum does duodenal atresia occur?
2nd part
207
How does intestinal atresia occur?
ischemia
208
What parts of GI tract does intestinal atresia occur?
1. distal ileum, 2) prox jejunum, 3. distal jejunum, 4. prox ileum
209
Malrotation anatomy? Embryology?
Failure of normal rotation with abnormal fixation, assoc with narowed mesenteric variations. Small bowel shifted to R side, cecum displaced from RLQ to RUQ, presence of Ladd's bands (fibrous bands forming bt cecum and R posterior retroduodnal peritoneum) serving as lead point around which bowel is twisted
malrotation is the risk factor for volvulus (intestinal ischemia)
210
Nieman Pick
sPhingomyelinase (like Pick), Nieman Picks cherries
211
Gaucher disease
Ashkenazi jewish descent, Glucocerebrosidase (starts with G), no eye abnormalities, do have hepatosplenomeg
gaucher cells in bone marrow
212
Tay Sachs
Tay SaXs (heXosadminidase), cherry red spot
213
Lysosomal storage disorders with cherry red spot
Niemann Picks cherries and puts them in his Sach
214
surfactant B
predominant surfactant protein in respiraotry distress, found on chromosome 2 (B is 2nd letter of alphabet)
215
LaPlace's law
surfactant. P=2T/r
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Howell Jolly bodies
asplenia
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Heterotaxy syndrome
Asplenia, assoc with atrial arrhythmias
Can be due to PCD
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Downside to dopamine with prolonged use
Dopamine is precursor of epinephrine and decreased endogenous stores. With continued use will be less effective
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Coarctation of aorta assoc with what genetic syndrome
Turners. 30% of patients with Turner syndrome have coarctation of aorta
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how to test for hiv
hiv1 pcr 2w, 2mo, 6mo after birth
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treatment of baby born to untreated HIV pos mother
6w azt plus 3 doses of nevirapene
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paired t test
A paired t test is used for the comparison of means between 2 groups that involve the same subjects, commonly before and after an intervention, such as in the example in the vignette. As in the Student t test and other parametric tests, normal distribution of data and similar degree of variance are required for the use of the paired t test.
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Student t test
Student t test is used to compare the means for a numerical variable between 2 groups of unrelated study participants in which there is normal distribution of data and a similar degree of variance in both groups.
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analysis of variance (ANOVA) and Friedman tests
When more than 2 groups are involved, the analysis of variance (ANOVA) and Friedman tests are appropriate for normal or skewed distributions, respectively.
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χ2 test
The χ2 test is used to evaluate the differences in qualitative data (nominal or ordinal data) between 2 or more groups.
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rubella
cardiac lesions such as patent ductus arteriosus and pulmonary artery stenosis. These infants may also have myocarditis, hepatosplenomegaly, petechiae, cataracts, glaucoma, and microphthalmia.
