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1
Q

33 week premature infant is born to a mother with hypertension. Baby is SGA. What other associated findings do you expect?

A

polycythmia

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2
Q

Baby 6 days old presents in shock. Glucose 1.6 and cardiomegaly on CXR. What is the most likely etiology of the shock?

A

congenital heart diseas

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3
Q

Baby with bili of 280 and conjugated 200? What is the most likely cause based on incidence?

A

Neonatal hepatitis 25%

or Extrahepatic Biliary atresia 25%

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4
Q

A newborn term infant had thin meconium at delivery but had good APGAR scores and required only 2 minutes of free flow O2. Now at 12 hours of age he has increasing work of breathing. On CXR there is hyperinflation of the RUL with mediastinal shift. What is the most likely diagnosis:

A

MAS
- hyperinflation
can have pneumothorax and pneumomediastium

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5
Q

Full term baby delivered after traumatic forceps delivery. Now 1 month old with vomiting, lethargy and red plaque on back of hand. What lab test would you check.

A

Calcium!
(hypercalcemia)

Subcutaneous fat necrosis.

Expectant management

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6
Q

Newborn was recently extubated after a course of systemic corticosteroids. What is the likely side effect?

A

hypertropic cardiomyopathy

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7
Q

Fullterm baby delivered to an O+ mom. Looks well but pale. Hb is 70, he is hemodynamically stable. What is the most likely diagnosis?

A

chronic fetal maternal hemorrhage

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8
Q

Breastfed babe born to vegan mom. What supplement should baby have to take?

What should mom have taken in pregnancy?

A

Zinc - fortified starting at 7mo
Vitamin D 400 IU or 800 winter if > 55d latitude

Mom: B12, vitamin D, folic acid, Linolenic acid, calcium

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9
Q

Who should not get soy formula owing to concerns with phytoestrogens

A

congenital hypothyroidism

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10
Q

Neonate with dehydration and mom was IDDM. Baby develops hematuria. What’s the dx:

A

Renal vein thrombosis

associated with IDDM, cyanotic CHD, umbilical lines

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11
Q

Prune belly syndrome

A

congenital disorder with clinical triad: abdominal muscle deficiency, severe Urinary tract abnormalities, bilateral cryptorchidism in males.

bilateral hydroureteronephrosis
VUR
obstruction
malrotation of gut
anorectal maflromations
lung hypoplasia with oligohydramios
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12
Q

3 day old baby sent to NICU. Jittery, tachypneic with nasal flaring, poor feeding, myoclonic jerks. Given the MOST likely diagnosis what is your treatment?

A

Pyridoxine-dependent epilepsy

seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode

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13
Q

Term newborn RR 80, sats 89% RA. Remainder vitals stable BP 65/40. CXR shows fluid in the fissure and small R pleural effusion. No cardiomegaly. Next step in management?

A

TTN

CPAP

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14
Q

36 wk baby 2.1 kg (5lbs) at birth, day 7 jittery, irritable, on exam HR 218, T 37.5, RR 70 bp 90/60. Face is flushed, eyes wide open, alert but irritable, normal tone and normal cry, jaundiced, DTR’s 2/4 and symmetric. There is hepatosplenomegaly. What is the likely
diagnosis (1), List 2 tests to confirm your diagnosis

A

Neonatal Grave’s disease
- maternal Thyroid receptor stimulating ab transmitted. meds excreted

  • TSH, T4, TS antibody
Frontal bossing and triangular facies, 
Warm
lid retraction (eyes open)
●Irritability, hyperactivity, 
●Tachycardia with a bounding pulse +/- cardiomegaly, arrhythmia
hepatosplenomegaly
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15
Q

Baby born at home at 38 wks by midwife. Now presents at 7 days with melena. Hb 70, MCV 112, plts normal. What is the most likely diagnosis?

A

hemorrhagic disease of the newborn

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16
Q

2 day old newborn male with jitteriness. At birth he was found to have a cleft palate, but has been bottle feeding well since. harsh systolic murmur.

a. What is the most likely diagnosis?
b. What is the reason for the baby’s jitteriness?

A

22q11 deletion
hypocalcemia

immunodeficiency
cleft palate
hypocalcemia
cardiac - VSD, right sided arch, TOF
retrognathia, long face with prominent nose
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17
Q

Resp distress syndrome

CXR findings

A

ground glass lungs (bilateral symmetrical)
bell shaped thorax
air bronchograms
hyperinflation

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18
Q

Baby born at 41 wks. Meconium staining. Flat babe requiring resucc. Apgars 2 at 1 min 3 at 5 min and 6 at 7 min. what 5 things may you expect with this baby in the near future. What 2 tests at discharge, if normal would suggests a good neurological outcome for this child

A 
thrombocytopenia
seizures
bradycardia, hypotension
hypocalcemia
resp distress

MRI, EEG

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19
Q

PDA - indomethacin side effects (4)

A 
oliguria, dec GFR
increased serum creatinine
hypoNa, hyperK, hypoglycemia
platelet dysfunction
NEC
GI bleeds/perforation
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20
Q

how to confirm HIV neg in vertical transmission in baby?

A

HIV DNA or RNA PCR is recommended for diagnosis <18 months of age.

reason-ably excluded with 2x negative PCR tests

  • one beyond 1mo old
  • 2nd beyond 2mo old
  • if on AZT, one beyond 4 mo old

CONFIRM with serological assay between 18 and 24 months of age.

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21
Q

5h old kid. Normal wbc/hgb. Plt count 9. Name 3 causes other than sepsis.

A

NAIT (alloimmune)
Autoimmune thrombocytopenia
TAR
congenital platelet disorders

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22
Q

1 week kid with sats 80% not improving with 100% O2. Single S2, III/VI SEM at
LSB. Normal CXR and RVH/RAD on EKG. What is most likely cause.

A

pulmonary stenosis

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23
Q

4 non infectious cause of hearing loss

A

Syndromic

  • AD: Waarenburg, Sticklers, NF2, Treacher Collins
  • AR: Jervell Lange Neislon
  • X linked - Alport

Congenital (mainly AR)

acquired - meningitis, ECMO, ventilation

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24
Q

neonatal toxoplasmosis
CSF findings
how to confirm

A

lymphocytic pleocytosis
elevated protein

PCR on CSF, blood, urine, tissue

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25
Shwachman Diamond syndrome
``` AR inheritance exocrine pancreatitic insufficiency skeletal - metaphyseal dysplasia short stature hepatomegaly +/- LE anemia, neutropenia, or thormbocytopenia bacterial and funcal infections ``` Rx: fat malabsoption - similar to CF G-CSF allogenic HSCT
26
Which of the following findings would help to rule out Klinefelter syndrome:
testicle size 15ml (should be hypogondadism)
27
What is the most likely presentation of an inborn error of metabolism?
encepalopathy preceeding focal neuro deficit
28
5 mo with white forelock, 1 iris blue 1 brown. What next investigation would you do?
``` Waardenburg hearing!! AD, PAX-3 mutation 1/15,000 – 1/25,000 Heterochromia White forelock SNHL 15 - 25% Dystropia canthorum Wide nasal bridge, short palpebral fissures ```
29
A 3 month old is suspected of having an inborn error of metabolism, and has neurological and cardiac involvement. Which of the following can be given before a definitive diagnosis is made to prevent further sequelae:
b. Carnitine
30
Russell Silver syndrome (4)
``` IUGR/SGA GH def Short stature Hypoglycemia triangular face, normal HC cafe au lait normal IQ but difficulties ```
31
Smith lemi Opitz
AR defect with multiple congenital anomalies. Defect in final enzyme in sterol pathway that convers 7 DHC to cholesterol Low serum plasma chol levels microcpehay, second and third toe syndactylyl IQ low Cleft palate
32
Pierre Robin (3)
micrognathia, glossoptosis, and cleft palate pul stenosis eye, MSK anomalies
33
a 5 month old baby presents with a history of poor intake and occasional vomiting over the past 24 hours. You find that his glucose is 2.8. The remainder of his bloodwork is unremarkable. He has no ketones present on urinalysis. List 2 ddx
FAOD | hyperinsulinemia`
34
WAGR
Wilms ANiridia (absent iris) GU anomalies Retardation (ID)
35
Uniparental disomy
``` refers to the situation in which 2 copies of a chromosome come from the same parent, instead of 1 copy coming from the mother, and 1 copy coming from the father. Angelman syndrome (AS) -maternal deletion = Paternal UPD Prader-Willi syndrome (PWS) - paternal deletion = Maternal UPD 15q11 ```
36
Duchenne 4 complications
cardiomyopathy - dilated cardiomyopathy, conduction ortho - # of legs and arms, progressive scholiosis, osteoporosis resp: nocturnal hypoventilation nutrition – overweight or underweight
37
Marfan skeletal deformities (3)
``` Pectus carinatum Pectus excavatum Wrist & thumb sign Decreased U:L ratio Decreased elbow extension pes planus hindfoot deformity (valgus) ```
38
FASD facial feature (5)
``` short palpebral fissure increased intercanthal distance flattened face with short nose thin upper lip absent/hypoplastic filtrum bow shaped mouth ```
39
Turner syndrome | 5 future complications
``` short stature primary amenorrhea cardiac - coarctation, HTN lymphedema GU - renal anomalies risk autoimmune - TSH q 1 -2 y ```
40
5 genetic syndromes predispose luekemia
``` Fanoni Shwachman Diamond SCID T21 NF1 ataxia telangiectasia Li Fraumeni Diamond Blackfan ```
41
angelman
15q11 - maternal deletion ``` Ataxia Speech severe IQ seizures microcephaly hypotonia, GDD paroxysms of laughter ```
42
Bardet Biedel
``` AR obesity intellectual disability pigmentary retinopathy hypogonadotropic hypogonadism cardiac - AS, VSD, etc renal anomalies, DI post axial polydactyly ```
43
Ehler Danlos
skin elasticity easy bruising hyperflexiability sometimes tricuspid or mitral regurg. sometimes aortic root dilation
44
Osteogenesis imperfecta 5 findings 3 xray findings
``` blue sclera frontal bossing macrocephaly dentinogenesis imperfecta short stature sclerosis hearing loss easy # ``` ``` Xray; osteopenia, thin cortices wormian bones (skull) saber shin (fibula anterior bow) coxa vera - femur head smaller angle ```
45
Sotos (3)
``` AD macrocephaly LGA GDD seizures developmental delay and behavioural ```
46
antenatal screen chorionic villus amniocentesis
9 - 12 weeks CV sampling 1% loss chromosomes > 16 weeks Amniocentesis chromosomes, infection, lung, renal 0.5% loss
47
antenatal screen | serum screens
Trisomies: high HCG, low PAPPA, low AFP NTD high AFP
48
38GA C/S eletive | grunt 10mins of age RR70 min indrawaing. O298% r/a. what do next?
observe, no further investigations | TTN - okay to observe as transitioning
49
definition of bronchopulmonary dysplasia?
O2 dependence beyond 28 days or 36 weeks post GA
50
how many Kg? LBW VLBW ELBW
< 2500 VLBW < 1500 ELBW < 1000g
51
definition of apnea
cessation of breathing for 20sec or 10sec with brady (<80)
52
baby 36+6 with bili 350 from community 96hr. Mom O+ve what do you do next?
cbc and coombs (if hemolysis and postive, will need exchange) (> start phototherapy and recheck in 4 -6 hr too long)
53
Twin-twin transfusion. unsuccessful Laser ablation. Twin A Hct 0.75 Twin B 0.35. what is twin B at risk for?
Hct high is recipient so twin B is donor - low crt, anemia, HIGH output failure
54
Which of the following pulse profiles matches the diagnosis given:
pulsus bigeminus-digoxin toxicity
55
Newborn baby with cyanotic congenital heart disease. Most consistent physical exam finding:
normal pulses and quiet precordium
56
Neonatal goiter. What anti-arrhythmic was mom on?
amiodarone | can also be on Propythiouracil, methmazole
57
ECG changes with digoxin
shortening QTc earliesr sagging ST diminished amplitude T wave slowing HR ``` then toxicity PR prolonged profound sinus brady SVT VT/VF ```
58
Meds - Long QT
``` amiodarone procainamide antibiotics: septra, erythro, clarithro/azithro TCA, haldol, risperidone metronidazole azole: fluconazole, itraconazole ```
59
electrolytes - prolong QT
hypoKalemia HypoCalcemia hypo Mg
60
Congenital Prolong QT name and features
Jervell-Lange Nielson- AR, deafness, syncope, FmHx Romano-Ward - AD, syncope, Fmhx Timothy- webbed fingers& toes
61
term IDM newborn is seen at 48 hours of age with a grade 3/6 SEM at the LSB. On echo there is hypertrophy of the septal muscle but no decrease in function. What is the clinical course:
no treatment
62
Which of the following is associated with an increased risk of necrotizing fasciitis?
varicella
63
3 yo with a 3/6 SM at the LUSB with an ejection click and a quiet S2:
pulmonary stenosis
64
what is ALCAPA?
anomalous left coronary arising from polmonary artery - usually isolated anomaly - myocardial ishcemia tht is progressive, lead to ischemic cardiomyopathy - without significant collaterals, function deteriorates in infancy. if okay, later into childhood presentation - MR, gallop, - ECG gallop, ST segmenet changes, Q waves
65
most likely defect in 22q11
TOF
66
etiologies HOCM
``` familial (AD) metabolic GSD - Pomple MPS - Hunter/Hurler mitochondrial Noonan's Fredrich's ataxia IDM ```
67
etiologies of DCM
``` idiopathic familial infectious - myocarditis, RF (adeno, HIV, coxsacke) Rheum - SLE, vascular Duchenne drug - anthracyclines coronary - KD, ALPACA arrhythmias - SVT ```
68
genetic associations with PS
Noonan Alagille Congenital Rubella WIlliams
69
TGA
``` may have absent murmurs ECG - mild RVH or normal Egg shaped heart (narrow mediastinum) Normal to increased pul vascular flow Rx prostaglandin +/- atrial septostomy Arterial switch ```
70
S/E prostaglandin (4)
``` apnea hypotension bradycardia hypoglycemia hypocalcemia jitteriness fever ```
71
syncope etiologies
``` Cardio electrical - long QT, AV block - WPW - short QT <0.3 brugda catacholamine polymorphic VT structural -HCOM, DCM vavular PHTN Marfam - aortic root acute myocarditis ``` ``` vasovagal breatholding neuropsych hypoglycemia seizure cataplexy TIA conversion ```
72
Name 3 EKG finding of Hyperkalemia. | 3 treatment
peaked T waves (shorten QT) prolonged PR Widen QRS ``` rx: remove K+ bicarb insulin (with glucose) kayxylate ventolin dialysis ```
73
T21 repaired CHF | going for elective surgery later. considerations for anesthesia?
airway/atlanto spine stability arrhythmias (heart block) mitral regurg/insufficiciency
74
CPR - 5 good qualitys
``` (Decrease chance 10% q1min) Firm surface Rate 100 – 120 Depth 4cm infants, 5cm others Minimize pauses/interruptions Allow full chest recoil Lone rescuer 30:2 2 person rescuer 15: 2 (NRP 3:1) ``` IF AIRWAY secure – 100:8 unsynchronized Airway RR 8 – 10 Post ROSC – O2 for sats 94 – 99%
75
WPW ECG findings
shorten PR long QTc delta waves
76
sudden death risk on history (3)
* Previous sx of exertional chest discomfort, dizziness or prolonged dyspnea with exercise, syncope or palpitations. * Fam Hx of prolonged QT, Marfans, sudden death, arrhythmias, cardiomyopathy. * Previous recognition of heart murmur or elevated BP.
77
2 heart lesions with single S2
Pul atresia aortic atresia TGA (P2 not heard)
78
Torsades de pointes
Form of polymorphic (VT) that occurs in the setting of acquired or congenital QT interval prolongation ``` rx Magnesium, lidocaine if unstable, shock NO amiodarone ( can lengthen QT) ```
79
chest pain post surgery
Pnuemothorax MI/angina pleural effusion post-pericardiotomy syndrome - few weeks to few months - fever, CP, irritable, malaise - CBC, CRP, ST segment changes, Twaves NSAIDS/ASA 4 - 6 wks steroids
80
4mo progressive CHF. aside from septal defects, what other primary cardiac defects?
large PDA ALPACA (SVT)
81
14 year old boy was found unresponsive in a park the morning after the overnight temperature dropped to -3°C. He has been receiving resuscitation in the ER for 30 minutes. Which of the following would be an indication to stop the resuscitation?
PEA continue until core temp > 34 refractory VF of VT aseen prior to warming reversible - toxicology potential to prolong
82
``` heart lesions with: 22q11 T21 Marfan WIlliams Noonan Turner Alagille Ehler-Danlos Holt-Oram ```
``` 22q11 - TOF, IAA, TA T21 - AVSD**> VSD Marfan Dilated AO> MVP William Supraval AS/PS Noonan - PS, HOCM Turner - Coarc, AS Alagille - PS Ehler - dilAo, MVP Hlt-Oram - ASD ```
83
Maternal conditions and heart lesions
IDM - HOCM, PDA, VSD Rubella - PDA, PS SLE - heart block, cardiomyopathy/myocarditis FASD - VSD, PDA, ASD
84
VSD - pathophy | Which ventricle?
dilated PA, LA, LV - LV is the one that recieveds volme L--> R during systole so blood goes directly to PA and pul veins to L heart
85
large ASD
wide, fixed split s2 grade 2/3 SEM LUSB ``` dilated RA, RV, PA later TR, PR mitral valve prolspe untreated leads to atrial arrhy pul HTN Eisenmenger ```
86
AVSD sequale
``` VSD - holosystolic, harsh diastolic rumble at apex LVH cardiomegaly inc pul marking ``` LV/RV dilation (everything) Pul HTN risk of permanent if not repaired < 6mo endocarditis
87
``` Pulsus paradoxus def and ddx (4) ```
on inspiration, SBP drops > 10mmHg ``` ddx pericarditis tamponade asthma PE emphysema hypovolemia ```
88
Neurocutaneous syndromes | inheritance
Tuberous Sclerosis - AD NF1, NF 2 - AD Von Hipple Lindau - AD Herditary Hemorrhagic Telactectasia - AD Sturge weber - sporadic PHACES - sporadic Ataxia Telangectasia - AR Inconinentia pigmenti - X linked
89
Child at hospital with tonic movements. Consciousness is preserved. He also has ataxia, vomiting, and inability to close mouth. He has been vomiting for several days and mom has been giving him a suppository but can't remember its name. What do you do?
Rx: diphenylhydramine (benadryl) Dystonic reactions are reversible extrapyramidal effects that can occur after administration of a neuroleptic drug. intermittent spasmodic or sustained involuntary contractions of muscles in the face, neck, trunk, pelvis, extremities, and even the larynx. Although dystonic reactions are rarely life threatening, the adverse effects often cause distress for patients and families
90
What is the most common reason for surgical intervention in a child who is born with a myelomeningocele:
hydroecephalus very common in spina bifida and is related to hindbrain herniation. (more so with mylomeningocele than spinal may develop most rapidly in the 1st postnatal mo; ventricular dilation may precede a change in head circumference or signs of increased intracranial pressure.
91
Which of the following newborns requires surfactant administration according to recent guidelines:
29 week infant with no symptoms being transferred between centres - NOT infant with RDS intubated >72hrs (only recommeded up to 3 doses in72hrs)
92
Young boy with history of four weeks of decreased energy. He has recently started to complain about leg pain. On exam, you find bilateral tenderness over his proximal tibia. There is no erythema and no warmth? What are two diseases that could cause this (2) ?
Leukemia, neuroblastoma (if < 5 year old) | ERA (juvenile enthesitis-related arthritis)
93
OI physical findings (4)
Blue sclera Saturn’s rings – perilimbal region is often whiter than remaining sclera - Dental – dentiogenesis imperfect (hereditary hypoplasia of dentin) Short stature, bowed legs Early deafness
94
Boy had recent illness - fx, dx, conjunctivitis, urethritis now with sacroilitis. You diagnose him with Reiter syndrome. List 4 organisms that could cause Reiter syndrome.
``` Reactive arthritis Campylobacter, shigella, yersinia, salmonella, chlamydia , strep ```
95
Wiskott Aldrich
``` x linked thrombocytopenia, eczema, immunodef - dec IgG, inc IgA -encapsulated bacterial infections - thrombocytopenia, bleeding early in life - risk of malignancy(lymphoma) ``` Rx: IVIG, BMT
96
In which condition is the IgE level normal:
ITP a) Wiskott-Aldrich syndrome – eosinophilia Nelsons’s b) immune thrombocytopenic purpura c) selective IgA deficiency - increased IgE (Nelson’s) d) Kawasaki disease – increased IgE (Nelsons) e) ascariasis - parasitic roundworm Ascaris lumbricoides. – increased IgE (Nelsons)
97
Immunotherapy | indications (to what)
venom allergy rhinitis allergic asthma atopic dermatitis risk of immunotherapy
98
IVIG used in all except ``` ITP BMT nephrotic KD GBS ```
nephrotic syndrome
99
18 mo M with knee arthritis, aspirate grew N. meningitidis. This is the same organism that grew in his CSF when he had meningitis at 10 months. Which of the following tests is most likely to be abnormal in this child?
total hemolytic complement Complement deficiency - high risk of meningococcal invasive disease rx: vaccinations pneumococcal and meninig and prop antibioiotics
100
Neutropenic child with central line site red. | what antibiotics?
IV piptazo/vanco or IV ceftazidime/vanco (3rd gen with pseudo) cover CONS and pseudomonas
101
Post-transplant complications (non-infectious)
``` acute GvHD (rejection) chronic GvHD HTN nephrotoxicity avascular nercrosis of osteoporosis mental health nutrition/growth retardation vaccinations high risk behaviorus - foods/unpasterurized etc ```
102
anaphylaxis 1. immediate treatment 2. 4 non-acute prevention
IM epi 0.01mg/kg 1:1000 to vastus lateralis ``` autoinject epinephrine 10kg-25kg 0.15mg IM dose teach parents have all times medical alert bracelet allergist referral ```
103
What is the most frequent cause of school absence in teenage girls:
dysmenorrhea
104
A child presents with watery diarrhea. Stool reducing substances will NOT be positive with which of the following:
sucrose negative reducing substances is unable to r/o a disaccharidase deficiency
105
A previously well 13-month-old presents with generalized puffiness and lethargy. Urine is negative for protein & blood. Albumin is 13. Initial treatment would include:
protein hydrosylate formula ?protein losing enterophathy
106
5 yo with bloody stools. Hyperpigmented lesions on lip and mucosa. Diagnosed with intusseption. What is underlying cause?
Peutz-Jehgers
107
3 mo baby with constipation and failure to thrive. What test to do? a) TSH b) Anal manometry c) Sweat chloride
sweat chloride
108
Baby with delayed meconium passage, abdo distension and calcifications on AXR a) Hirschprungs b) CF c) duodenal atresia
CF
109
An infant is brought for assessment of eczema, failure to thrive, diarrhea, and a rash around his mouth and anus. What is the likely deficiency:
zinc
110
Some vitamins are stored in large amounts and there may be no biochemical or clinical evidence of deficiency for many months. Which of the following vitamins behaves as such:
vitamin B12
111
Neurologically impaired 5 y/o with contractures, non-ambulatory List 5 objectively assess nutritional status malnutrition - 5 management options
mid-upper arm circumference -triceps fat-skin fold thickness subscapular skin fat fold thickness - weight for length Rx - entera: NG/ Gtube - hypercaloric feeds - supplemental - limit demands: r/o concurrent disease, avoid aspiration, chronic disease mg
112
8 year old F sticking hand down male classmate. what other sexual behaviors to enquire (5)
- sexual behaviors different than those of same age - elicit complain from other children - oral/genital contact with animals - sexualize non sexual things - fear, deep guilt associated with sexual behaviors - children engaged in sexual behaviors without ongoing mutual play relationship

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