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: Gargoylism and corneal clouding is suggestive of _____

Answer: Hurler syndrome

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

Flashcard 414: 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 415: _____ = typically seen in children (genetic)

Answer: Cystine stones

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

Flashcard 416: 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 417: A 4-day-old infant is brought with abnormal movements. - He has had intermittent episodes of tonic posturing over the past 3 hours. - He also presents with poor feeding, vomiting, and irritability for the past 2 days. - Diaper smells like: caramelizing sugar. - Labs of plasma & urine confirm diagnosis. - In addition to appropriate dietary restriction, supplementation with what may improve this infant's condition?

Answer: Thiamine (Vitamin B1) :: The infant has **Maple Syrup Urine Disease (MSUD)**, caused by a deficiency of the **branched-chain α-ketoacid dehydrogenase** complex. This complex requires five cofactors: 1. **T**hiamine (B1) 2. **L**ipoic acid 3. **C**oenzyme A (B5) 4. **F**AD (B2) 5. **N**AD (B3) (Mnemonic: **T**ender **L**oving **C**are **F**or **N**ancy) While dietary restriction of branched-chain amino acids (Valine, Isoleucine, Leucine) is the mainstay of treatment, some patients have a thiamine-responsive variant.

Flashcard 418: 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 419: Rank the following from highest to lowest prevalence: ASD, PDA, VSD_____

Answer: VSD > ASD > PDA

Flashcard 420: What type of airway obstruction is seen in tracheomalacia and bronchogenic cysts?

Answer: Variable intrathoracic obstruction