Congenital defects — Flashcards

Flashcard 411: Inside the body: (1) hamartomas (2) subependymal nodules Outside the body: (1) angiofibromas (on face) (2) ash-leaf spots (anywhere on skin) (3) shagreen patches (common on low back) = _____

Answer: Tuberous sclerosis

Extra:  https://onlinemeded.org/spa/dermatology/hypopigmentation/acquire?ref=anki 

Flashcard 412: What is the next step in management for a newborn with bilious emesis and dilated loops of bowel on X-ray? _____

Answer: Contrast enema

Extra:  https://onlinemeded.org/spa/surgery?ref=anki 

Flashcard 413: Testes that have not descended by _____ are unlikely to descend and require surgical intervention

Answer: 6 months

Extra:  https://onlinemeded.org/spa/surgery?ref=anki 

Flashcard 414: Gargoylism and corneal clouding is suggestive of _____

Answer: Hurler syndrome

Extra:  https://onlinemeded.org?ref=anki 

Flashcard 415: _____ = typically seen in children (genetic)

Answer: Cystine stones

Extra:  https://onlinemeded.org/spa/nephrology/kidney-stones/acquire?ref=anki 

Flashcard 416: Neonate with extra-abdominal intestines; to the right of the umbilicus and not contained in a membrane? _____

Answer: Gastroschisis

Extra:  https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki 

Flashcard 417: A 6 y/o comes to the office for evaluation of short stature. -Physical exam: height 3 standard deviations below the mean for her age. -Other findings include: Low set ears, high arched palate, webbed neck, & cubitus valgus. -Chromosomal analysis: 45, XO karyotype. -Patient: started on a medication to improve growth & normalize her height. -Which intracellular pathway is stimulated by the medication used in this patient?

Answer: JAK-STAT pathway. Due to receptor associated tyrosine kinase. (PiGGLET): Prolactin, GH, G-CSF, Erythropoietin, Thrombopoietin.

Flashcard 418: 4 day old infant is brought with abnormal movements -He has had intermittent episodes of tonic posturing over past 3 hours. -He also present with poor feeding, vomiting, and irritability for past 2 days. -Diapers smells like: caramelizing sugar. -Labs of plama & urine confirms Dx. -In addition to appropriate dietary restriction, supplementation with what may improve this infant's condition?

Answer: Thiamine (most common treatment) Maple syrup urine disease, due to defective breakdown of VIL (valine, leucine, isoleucine) others such as: "Tender Loving Care For Nancy" -Thiamine -Lipoate -Coenzyme -FAD -NAD

Flashcard 419: What type of upper airway obstruction is seen in tracheomalacia and bronchogenic cysts?_____

Answer: Variable intrathoracic obstruction

Flashcard 420: Rank the following from highest to lowest prevalence: ASD, PDA, VSD_____

Answer: VSD > ASD > PDA