A 6-year-old boy is brought to your pediatric clinic by his parents who are concerned with his growth and development. They immigrated to the United States a few months ago from Tunisia. He has not been growing as he should compared to other children of his age. At school, he has learning disabilities. His reading skills are poor. His motor skills are inadequate. Other children make fun of him for having a ‘musty body odor’. His behavior becomes erratic when he eats certain foods like beef, pork, lamb, venison, salmon, trout and drinks diet sodas. On physical examination, the boy has blue eyes and blonde hair; microcephaly, hypertonia and hyperreflexia in all four limbs. Biochemical defect in this disorder is in which of the following proteins?
A 6-year-old boy is brought to your pediatric clinic by his parents who are concerned with his growth and development. They immigrated to the United States a few months ago from Tunisia. He has not been growing as he should compared to other children of his age. At school, he has learning disabilities. His reading skills are poor. His motor skills are inadequate. Other children make fun of him for having a ‘musty body odor’. His behavior becomes erratic when he eats certain foods like beef, pork, lamb, venison, salmon, trout and drinks diet sodas. On physical examination, the boy has blue eyes and blonde hair; microcephaly, hypertonia and hyperreflexia in all four limbs. Which of the following investigations would lead to identifying the possible organic cause of pervasive developmental impairment in this boy?
A 38-year old obese woman brings her newborn son to your office for the establishment of care. She was diagnosed with diabetes mellitus when she was 22 years-old. She has been taking insulin and throughout her pregnancy she reports, ‘I tried to control my sugars as much as I can’. Her baby had to be delivered at 38 weeks via cesarean section a week ago because he weighed more than 11 lb (4900 g). Which of the following statements is FALSE regarding fetal macrosomia?
A 38-year old obese woman brings her newborn son to your office for the establishment of care. She was diagnosed with diabetes mellitus when she was 22 years-old. She has been taking insulin and throughout her pregnancy she reports, ‘I tried to control my sugars as much as I can’. Her baby had to be delivered at 38 weeks via cesarean section a week ago because he weighed more than 11 lb (4900 g). Which of the following was a risk factor for macrosomia in this baby?
A 35-year-old pregnant woman at 32 weeks of gestation is referred for management of hepatitis B virus (HBV) infection. She is HBsAg and HBeAg positive, with an HBV DNA level of 350,000 IU/mL. She has no symptoms of liver disease, and her liver function tests are normal. The healthcare team discusses initiating antiviral therapy to reduce the risk of perinatal transmission. What is the recommended antiviral therapy for a pregnant woman with hepatitis B and a viral load >200,000 IU/mL to reduce perinatal transmission?
A 29-year-old pregnant woman at 34 weeks gestation is referred for management of chronic hepatitis B infection identified during prenatal screening. She is positive for hepatitis B surface antigen (HBsAg) and hepatitis B e antigen (HBeAg), with an HBV DNA level of 250,000 IU/mL. She has no symptoms of liver disease, and her ALT levels are mildly elevated. The healthcare team evaluates her risk for perinatal transmission to determine the appropriate interventions. Which maternal factor is the strongest predictor of perinatal transmission of hepatitis B?
A 32-year-old pregnant woman presents for her routine prenatal visit at 36 weeks of gestation. She was diagnosed with chronic hepatitis B earlier in the pregnancy, with positive HBsAg and HBeAg, and an HBV DNA level of 300,000 IU/mL. She has not started antiviral therapy. The obstetric team discusses strategies to minimize the risk of transmitting hepatitis B to her baby during and after delivery. Which of the following is the most effective way to prevent perinatal transmission of hepatitis B?
A 3-day-old neonate with abdominal distension, bilious vomiting, and failure to pass meconium is diagnosed with meconium ileus. Imaging shows a dilated bowel, and the obstruction is relieved by Gastrografin enema. Genetic testing confirms a mutation in the CFTR gene. Which of the following long-term complications is this neonate most at risk for?
A 1-day-old male neonate with a distended abdomen and failure to pass meconium undergoes an abdominal X-ray, which reveals dilated bowel loops. Contrast enema demonstrates a microcolon with inspissated meconium. The baby’s sweat chloride test is positive. Which of the following is the best initial treatment?
