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Qoy > U-World: PEDIATRICS > Flashcards

U-World: PEDIATRICS Flashcards

1
Q

NF type 1 vs type 2:

1) Gene mutation
2) Chromosome
3) Main clinical features (3 for NF1, 1 for NF2)

What are Lisch Nodules?

A

1) NF1 tumor suppressor gene: neurofibromin
NF2 tumor suppressor gene: merlin

2) 17; 22
3) Cafe-au-lait spots, neurofibromas, lisch nodules (iris hamartomas)

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2
Q

Tay Sachs vs Niemann Pick

1) path?
2) epidemiology
3) onset
4) clinical features

A

Tay-Sachs Disease:

1) Beta-hexosaminidase A def.
2) AR inheritance, ashkenazi jew
3) age 2-6 months
4) loss of motor milestones, hypotonia, feeding difficulties, “cherry-red” macula, hyperreflexia

Niemann-Pick Disease:

Tay-Sachs+ HSM, A-reflexia, and sphingomyelinase def.

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3
Q

Fever, urticaria, polyarthralgia, lymphadenopathy 1-2 weeks following administration of PCN, TMP-SMX, cefaclor, in the setting of a viral illness

A

Serum sickness (drug-induced reaction)

NOT AN ALLERGY

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4
Q

What lab does factor 8 (VIII) affect?

A

aPTT

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5
Q

Define petechiae, purpura, ecchymoses.

What are petechiae a sign of, and therefore which types of disorders are petechiae seen with?

A

Petechiae (smallest), purpura (medium), ecchymoses (largest)

thombocytopenia, quaNtitative

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6
Q

Which pathway affects PT? PTT? Bleeding time?

A

PT - extrinsic (“PET”); 7; warfarin (“PT/INR”)
PTT - intrinsic; 12, 11, 9, 8 (“more numbers, more letters”); heparin (“hep”)
Bleeding time - platelet adhesion (vWF, etc.)

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7
Q

Lab Values in vWF disease? (3, explain)

A
  • increased bleeding time (no good platelet adhesion)
  • increased PTT (vWF stabilizes factor 8 normally)
  • abnormal ristocetin test
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8
Q

Prolonged QT segment

3 causes?
tx?

A

2 inherited: Jervell and Lange-Nielsen syndrome (AR); Romano-Ward Syndrome (AD)

Electrolyte derangement a (hypokalemia, hypocalcemia, hypomagnesemia)

Propranolol with pacemaker

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9
Q

What is required for the diagnosis of Acute Lymphoblastic Leukemia (ALL)?

Test and result?
2 ddx and reason

A

> 25% lymphoblasts on BONE MARROW BIOPSY

not lymph node biopsy, that’s for lymphoma
(not smear, that helps, but doesn’t ESTABLISH dx)

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10
Q

What are the symptoms of atlantoaxial instability? What is it usually associated with?

A

C1-C2 excesive laxity, compression of spinal cord

-Upper motor neuron symptoms (spasticity, hyperreflexia, +babinski sign, clonus)
-torticollis
-urinary incontinence
vertebrobasilar symptoms (dizziness, vertigo, diplopia)

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11
Q

3 stages of pertussis and characterize

A

1) Catarrhal - mild cough, rhinitis (1-2 weeks)
2) Paroxysmal - POSTTUSSIVE EMESIS (2-6 weeks)
3) Convalescent - symptoms resolve (weeks to months)

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12
Q

5 “-emias” that SGAs are at risk for.

define SGA and LGA

A

SGA: 90th percentile

polycythemia, hypoxemia, hypoglycemia, hypothermia, hypocalcemia

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13
Q

Angelmann’s vs Prader Willi genetics.

Symptoms in both
Unique symptoms

A

THE MNEMONIC REFERS TO DELETION

Angelmann 15q11-q13 MATERNAL deletion (has 2 paternal)
Prader-WIlli 15q11-q13 PATERNAL deletion (has 2 maternal)

short stature and intellectual disability seen in both

Anglemann: laughter/smiling, hand-flapping, ataxia, seizures
Prader-Willi: poor suck, feeding issues, obesity, OSA, DM2

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14
Q

Herpangina vs Herpetic gingivostomatitis

A

(add more?)

coxsackie A vs HSV 1
3-10 years vs 6mo- 5 years
summer/early fall vs no seasonality

GRAY VESICLES/ULCERS ON POSTERIOR OROPHARYNX
vs
VESICLES ON ANTERIOR OROPHARYNX/LIPS

(fever and phayngitis present in both)

supportive vs acyclovir

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15
Q

Explain the physiology of the “knee to chest” maneuver

A

Increases SYSTEMIC VASCULAR RESISTANCE which increases pulmonary vascular flow and decreases cyanosis

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16
Q

What is the most common cause of abnormal (aka either amenorrhea or irregular menses) uterine bleeding? What does this mean as far as labs? What is the best treatment?

A

Immature hypothalamic-pituitary-ovarian axis

Insufficient gonadotropin release required to induce ovulation? (LH/FSH)

High-dose estrogen

17
Q

Normocytic, normochromic anemia in a 2 month old born at 32 weeks gestation ?

A

Anemia of prematurity

18
Q

Spondylolisthesis

A

Forward slip of vertebrae (usually L5 over S1)

Preadolescent child, slow onset of back pain, urinary dysfunction

19
Q

Baby born to unimmunized mother, develops umbilical stump infection, and “whole body spasms” and poor suckling

A

Tetanus

20
Q

What is club foot (other name), how to treat it?

A

Talipes Equinovarus:

1) equinus and varus of the calcaneus and talus
2) varus of the midfoot
3) adduction of the forefoot

Treat IMMEDIATELY with stretching and manipulation, followed by serial casts/taping/malleable splints, THEN surgery if that doesn’t work

21
Q

Patient presents with breath holding spells, what is the next best step?

A

CBC, ferritin. Workup for Iron def. anemia

22
Q

Beckwith-Wiedemann syndrome (5)

2 associations

2 screening

A
  • macroglossia
  • macrosomia
  • umbilical hernia/omphalocele
  • hemihyperplasia
  • hypoglycemia

assoc: Wilm’s tumor, hepatoblastoma
screening: abdominal/renal U/S, alpha-fetoprotein

23
Q

What defines neonatal polycythemia?

Expound

A

Hematrocrit>65%

Caused by delayed cord clamping, maternal HTN, maternal DM

Px: ruddy skin, RESPIRATORY DISTRESS, hypoglycemia, neuro

24
Q

Risk for what complication with VUR disease? Why? Gold standard test? What usually is the workup for a boy with UTI?

A

Renal scarring 2/2 recurrent infections

VCUG gold standard

Renal and bladder U/S is recommended at 2-24 months for first UTI, if reassuring, no VCUG necessary

25
Q

What is acute rheumatic fever?

How would you prevent it?
Dx it?
What are the valvular heart sequelae?

A

Complication of untreated GAS pharyngitis, leading to rheumatic heart complications

Penicillin to prevent pharyngitis
JONES criteria (2 major, or 1 major, 2 minor) review these!

Mitral Stenosis (loud S1, mid-diastolic rumble)

26
Q

Discuss the link between constipation and recurrent cystitis

A

This leads to rectal distention 2/2 fecal retention, which can compress the bladder, leading to urinary stasis, leading to recurrent infections

27
Q

What is transient synovitis? Tx? Two ddx and their tx?

A

Most common cause of hip pain in children, usually after viral infection. Normal labs and no fever.

Tx: Rest and ibuprofen

Legg-Calve-Perth needs an xray (osteonecrosis of femoral head); Septic arthritis would have fever and elevated acute phase reactants

28
Q

CF patient with co-occurring influenza? Tx?

A

Staph Aureus pneumonia, tx. IV vanco

29
Q

When should vaccines be given? Gestational age or chronological age?

A

Always chronological

30
Q

Labs in Turner

A

Ovarian dysgenesis -> low estrogen, inability to menstruate

High FSH and LH from LACK OF negative feedback

31
Q

Compare and contrast Turner vs Kallmann

A

Turner, LOW estrogen, high FSH, LH, 45XO

Kallmann: hypogonadotropic hypogonadism with rhinencaphalon hypoplasia (no GnRH, anosmia, deylayed puberty, short stature); low FSH, LH NORMAL GENOTYPE

32
Q

How should height and weight change by 12 months? (add more from kaplan?)

A

Height increase 50%, weight triple

33
Q

Which vaccines can cause febrile seizures?

A

DTap, MMR

34
Q

Best test when you see signs of hydrocephalus or expanding head circumference

A

CT! (MRI acceptable if patient is stable)

if just craniosynostosis, then skull Xray is sufficient

35
Q

Pain worse only at night, BL LE, no physical impairment responds to OTC pain meds. Dx? Tx? Ddx?

A

Growing pains. Reassurance/observation, massage/stretching, OTC pain meds

Osteoid osteoma (USUALLY SEEN IN SECOND DECADE OF LIFE AND IS UNILATERAL)

36
Q

Precocious puberty ages

Central vs peripheral (path, labs, etc.)

A

secondary sex characteristic <9 in boys

1) central: early activation of HPO axis/excess GnRH; high FSH/LH (just like Turner!), advanced bone age, breast development present?
2) peripheral: gonadal or adrenal release of excess sex hormones; low FSH/LH (like Kallman!), normal bone age and no breast development???

central warrants MRI/CT, tx GnRH analog

37
Q

J wave on ECG means?

A

hypothermia

Qoy (16 decks)

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