Question Review Flashcards
Signs of intentional burn injury
Zebra striping, lack of splash marks, well demarcated, sparing of flexor surfaces and creases.
Two year old child language?
200 words, 50% intelligible by stranger, 2 word sentences
Wiskott-Aldrich Syndrome cause and symptoms
X linked recessive in WASP gene. Features are eczema, microthrombocytopenia, and recurrent infections
Bone pain worse at night but improved with ibuprofen?
Osteoid osteoma
Genetics for Duchenne muscular dystrophy
X linked deletion of dystrophin due to a frameshift
Genetics for Becker muscular dystrophy
X linked reduction in amount of dystrophin due to a nonsense mutation
Genetics for myotonic dystrophy
Autosomal dominant expansion of CTG
Comorbidities for duchenne muscular dystrophy
Scoliosis, cardiomyopathy
Cause of death in friedrich’s ataxia?
Cardiomyopathy
Newborns and varicella
Newborns are not at any increased risk for complications from varicella after day 2. If mom has varicella 5 days prepartum, give VZV ig
Common complication of delivery
Broken clavicle presents as anterior shoulder bulge.
Infectious contraindications to breast feeding?
Drug contraindications for breast feeding?
HIV, active pulmonary TB, typhoid, sepsis
Heroin, amphetamines, cocaine
Complication of small-for-date infants
Congenital abnormalities
PPHN hemodynamics
Increased pulm pressure and decreased systemic pressure lead to R to L shunt across PDA and cyanosis
Apt-downey test?
Given to newborns with melena or hematemesis to distinguish if blood is maternal or fetal
Derangements of infants born to diabetic mothers?
Immediate hypoglycemia followed by hypocalcemia 24-48 hours later
Treatment for galactosemia?
Stop giving milk, switch to soy protein
Injections to newborns?
Vitamin K, hepatitis B vaccine
Most common TE fistule
Proximal esophageal atresia, distal fistulization
McCune-Albrigt Syndrome
Sporadic mutation in GPCR
Precocious puberty, bone defects (polyostotic fibrous dysplasia), cafe au lait spots
Earliest manifestation of sickle cell?
Dactylitis
Jervell-Lange-Nielsen Syndrome
How to treat if symptomatic?
Long QT with sensorineural hearing loss. Autosomal recessive.
Treat with beta blockers and pacemaker if symptomatic
Fanconi Anemia
Caused by defects in DNA repair, causes aplastic anemia, short stature, hypoplastic thumbs, strabismus, low set ears, hypo/hyper pigmented areas
Most common cause of nephrotic syndrome in children? Treatment?
Minimal change disease. Treat with steroids
Vitamin abnormalities with CF?
ADEK
B1 deficiency
Beri beri, peripheral neuropathy and cardiomyopathy
Workup for breath-holding spells?
CBC because they can be associated with iron deficiency anemia
How to treat a cat bite?
Augmentin, because want to prevent pasteurella cellulitis