A 5-month-old boy is brought to the pediatrician by his parents, who began noticing that the infant was not able to hold his head upright when sitting or in a prone position. Upon examination, the infant has a musty odor, fair skin with patches of eczema, and blue eyes. The pediatrician orders laboratory tests and prescribes a special diet. Which of the following amino acids becomes essential and must be supplemented in this patient's condition?
AThiamine
BLarge neutral amino acids
CArginine
DPhenylalanine-free amino acid formula
ETyrosine
A 6-month-old male presents to the emergency department with his parents after his three-year-old brother hit him on the arm with a toy truck. His parents are concerned that the minor trauma caused an unusual amount of bruising. The patient has otherwise been developing well and meeting all his milestones. His parents report that he sleeps throughout the night and has just started to experiment with solid food. The patient’s older brother is in good health, but the patient’s mother reports that some members of her family have an unknown blood disorder. On physical exam, the patient is agitated and difficult to soothe. He has 2-3 inches of ecchymoses and swelling on the lateral aspect of the left forearm. The patient has a neurological exam within normal limits and pale skin with blue irises. An ophthalmologic evaluation is deferred. Which of the following is the best initial step?
AGenetic testing
BComplete blood count and coagulation panel
CEnsure the child's safety and alert the police
DPeripheral blood smear
EHemoglobin electrophoresis
A 35-year-old woman gravida 2, para 1, comes to the physician for her first prenatal visit. Pregnancy and delivery of her first child were uncomplicated. She is not sure about the date of her last menstrual period. Pelvic examination shows a uterus consistent in size with a 10-week gestation. An ultrasound examination confirms the gestational age and shows one fetus with no indication of multiple gestations. During counseling on pregnancy risks and possible screening and diagnostic tests, the patient states she would like to undergo screening for Down syndrome. She would prefer immediate and secure screening with a low risk to herself and the fetus. Which of the following is the most appropriate next step in management at this time?
ANuchal translucency, pregnancy-associated plasma protein-A, human chorionic gonadotropin
BMaternal serum α-fetoprotein, human chorionic gonadotropin, unconjugated estriol, and inhibin A
CChorionic villus sampling
DAmniocentesis
ECell-free fetal DNA testing
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