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USMLE2 Pediatrics 04

Mistakes - PedsAssessments

QuestionAnswer
Neurofibromatosis inheritance pattern autosomal dominant
What is the major malfunction that causes neurofibromatosis? abnormal neural crest differentiation during embryogenesis
Diagnosis criteria for neurofibromatosis 1 2 or more: 1. >6 cafe-au-lait (>5mm prepub, >15mm post-pubertal), 2. >2 NFs, 3. freckling - axillary or inguinal, 4. optic glioma, 5. >2 Lisch nodules - nevi on iris, 6. bone - sphenoid dysplasia or thinning long bone cortex, 7. hx of 1st deg relative.
Diagnosis criteria for neurofibromatosis 2 BL 8th nerve acoustic neuroma 1st degree relative with NF 2
treatment for neurofibromatosis no treatment, genetic counseling since autosomal dominant
jaw cysts Gorlin (basal cell nevus) syndrome - ass with palm and sole pitting and basal cell CA
osteopoikilosis Golz syndrome - focal dermal hypoplasia, X linked dominant, only females affected. Linear and whorled Blashko lined-papules and plaques, fat herniation on skin, MR and convulsions.
train track calcifications of the skull Sturge Weber
retrograde urethrogram used to eval urethral injuries males with pelvic fractures and blood at the meatus
Osgood Schlatter traction apophysitis of tibial tubercle, athletic adolescents, xray to exclude other conditions, tx with rest, resolves completely in 1-2y
steeple sign croup, parainfluenza, looks like pencil
epiglottitis HiB - high fever, airway obstruction, toxic looking, drooling
bronchiolitis and PNA in infants RSV
Otitis Media and PNA in children S. PNA
two most common causes of microcytic anemia on routine testing at 1yo Fe deficiency and thalassemia trait
classic presentation for STD Gonorrhea urethritis, cervicitis, dysuria (burning), purulent discharge
Neiserria gonorrhea on Gram stain G- intracellular diplococci in PMNs
all pts with gonorrhea should be tested for Chlamydia, HIV, and syphillis
tx for gonorrhea IM CTX x1 PLUS doxy or azithromycin for presumed Chlamydia
Chancroid Haemophilus ducreyi, superficial PAINFUL ulcer, with painful inguinal adenitis
Syphillis Treponema pallidum (spirochete); small red papule --> crusted indurated erosion oozing fluid; painless LAD
Genital herpes PAINFUL grouped vesicles with erythematous base, painful small ulcerations, PAINFUL inguinal LAD; affects cervix in women
guillian barre - what bacteria Campylobacter, mycoplasma PNA
guillian barre - ascending or descending weakness ascending, starting in legs, symmetric
can a 3-day old turn toward human voice? yes
Can a 3-day old fixate on a familiar face (i.e. mom)? yes
Does 3-day old have grasp reflex? yes
Does 3-day old have fencing reflex? NO. only at 2 weeks to 6 months.
when does an infant roll over? 4-8 months
how to diagnose RSV RSV antigen in nasopharyngeal aspirate. causes bronchiolitis (inflammation of small airways, rhinitis --> blocked nasal passages with mucus, with obstruction of small airways and air trapping --> hyperinflated lungs)
retropharyngeal abscess Group A strep, S aurea, or anaerobes. Drooling, sore throat, fever, won't flex neck, bulge in posterior pharyngeal wall with erythema and oral secretions collected there.
mode of inheritance for albinism autosomal recessive - because both boys and girls can get it, but not very many people we meet have it!
mode of inheritance for congenital adrenal hyperplasia autosomal recessive - causes hermaphrodites --> both sexes, but again, rare.
mode of inheritance for diabetes insipidus X-linked recessive - actually didn't know, but I guess there might be a male predominance??
mode of inheritance for testicular feminization X-linked recessive - it would have to be boys only since it's testicular!
mode of inheritance for hypophosphatemic rickets X linked dominant
marker for neural tube defects AFP
cause of night blindness, dry scaling papular rash, inability to see bright light Vit A deficiency
marker for neural tube defects AFP
cause of night blindness, dry scaling papular rash, inability to see bright light Vit A deficiency
cheilitis (inflammation of lip), atrophic magenta colored tongue, seborrheic dermatitis on face and genitals, photophobia, blepharitis (inflammation of eyelids) Vit B2 deficiency
tx for Wilson's disease penicillinamine - binds to Cu and increases its elimination through the urine.
tremor, drooling, fixed smile, dysarthria, choreoathetosis, yellow-brown corneal deposits Wilson's disease
sabouraud's dextrose agar to grow fungi
pull test diagnose alopecia areata
turner's karyotype XO, 45
why do Turner's pts have hypertension? coarctation of the aorta
Created by: christinapham
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