A 2-year-old boy is brought to the emergency department after developing swelling of his left middle and ring fingers for the past day. The parents noticed that the boy had some redness of both fingers, and the boy had some agitation from pain yesterday. Today, the pain has become excruciating. The patient has no other medical conditions and was born at term after an uncomplicated pregnancy. On exam, the patient’s temperature is 98.3°F (36.8°C), blood pressure is 114/88 mmHg, pulse is 120/min, and respirations are 14/min. On exam, the patient has fusiform swelling of the left middle and ring fingers, with swelling starting to extend into the hand. The fingers are erythematous and warm and exquisitely tender to touch. After a thorough family history and lab testing, the diagnosis is confirmed. Which of the following is the likely mutation that has occurred in this patient’s condition? (vaso occlusive crisis)

A young Mediterranean teen brings her 4-year-old little brother to the Emergency Room because of a high temperature. Their parents are on their way to the hospital, but, in the meantime, she provides some of the history. She explains that he has been running a fever and limping for the past week. This morning, she had trouble awakening him, and she noticed some swelling and redness around his right ankle. In terms of his past medical history, she knows he has something wrong with his blood. He had to receive extra vaccinations as an infant, and he takes an antibiotic everyday. On exam in the ED, his temperature is 102.4 deg F (39.1 deg C), blood pressure is 90/60 mmHg, pulse is 123/min, and respirations are 22/min. He is lethargic, and his exam is noteworthy for erythema and edema in an area surrounding his distal shin. What is the most likely diagnosis? (Salmonella because there isn’t a vaccine for this and patient is lethargic!)

A 13-year-old boy is brought by his mother to the emergency department because he has had fever, chills, and severe coughing for the last two days. While they originally tried to manage his condition at home, he has become increasingly fatigued and hard to arouse. He has a history of recurrent lung infections and occasionally has multiple foul smelling stools. On presentation, his temperature is 102.2 °F (39 °C), blood pressure is 106/71 mmHg, pulse is 112/min, and respirations are 20/min. Physical exam reveals scattered rhonchi over both lung fields, rales at the base of the right lung base and corresponding dullness to percussion. The most likely organism responsible for this patient's symptoms has which of the following characteristics?

An 8-year-old boy presents to the emergency department with an 8-hour history of fever and difficulty breathing. His past medical history is significant for recurrent pneumonia, shortness of breath, and diarrhea as an infant. His family recently immigrated to the United States and have not yet obtained their previous medical records. On presentation, his temperature is 101.6°F (38.7°C), blood pressure is 106/68 mmHg, pulse is 98/min, and respirations are 22/min. Physical exam reveals an ill-appearing boy with increased work of breathing and scattered rhonchi over both lungs fields. Sputum Gram stain and culture reveal a gram-negative, encapsulated bacteria that produces a blue-green pigment. Which of the following is most likely associated with the cause of this patient's disorder?

A newborn is found to have cystic fibrosis during routine newborn screening. The parents, both biochemists, are curious about the biochemical basis of their newborn's condition. The pediatrician explains that the mutation causing cystic fibrosis affects the CFTR gene which codes for the CFTR channel. Which of the following correctly describes the pathogenesis of the most common CFTR mutation?

A 6-month-old male is brought to the pediatrician by his parents for a routine well visit. His parents report that he is feeding and stooling well, and they have just started experimenting with solid foods. His parents are concerned because a few weeks ago he started rolling from back to front in addition to front to back, but he now struggles when placed on his back. The patient was noted to be developmentally appropriate for his age at his last visit two months ago. On physical exam, the patient seems well-nourished and has no dysmorphic features. In the examination room, he is able to roll from front to back but cannot roll from back to front. He is not able to sit without support and makes no attempt at bouncing when supported in a standing position. The patient’s abdomen is non-tender and soft without hepatosplenomegaly. His patellar reflexes are 4+ bilaterally. He is found to have the ocular finding seen in Figure A.

Accumulation of which of the following would most likely be found in this patient’s cells?