As a foundation doctor on the neonatal ward, you examine a two hour old baby delivered via cesarean section. The baby presents with intercostal recession and a respiratory rate of 55/min. However, they have good tone and color and are apyrexial. You suspect transient tachypnoea of the newborn and order a chest x-ray as part of your assessment. What is the probable result of the chest x-ray?
A 30-year-old man is advised on the genetics of Huntington’s disease. What is the best explanation for the concept of anticipation?
A 7-year-old boy comes to his General Practitioner with his mother, having just woken up from a nap and experienced twitching of the left side of his mouth. He complains of a ‘buzzing’ sensation in his lips. His speech is unclear and he drooled from the left side of his mouth. His symptoms resolved within two minutes and he remained conscious throughout the episode.
What is the most probable diagnosis?
A 7-year-old girl is brought in for evaluation. Her medical records indicate that she has previously received treatment for constipation, but is generally healthy. The mother reports that the child is currently passing only one hard stool every 3-4 days, which resembles ‘rabbit droppings’. There is no history of overflow soiling or diarrhea. The abdominal examination is normal. What is the most suitable initial intervention?
A 7-year-old child is brought to see you by his parents, who are concerned because he still wets his bed every night. A urine culture is normal; urine is negative for glucose and protein.
What would be the most appropriate approach to managing this child’s bedwetting?
A mother of a 5-year-old child with cystic fibrosis (CF) visits the clinic to inquire about the likelihood of having another child with CF. She is still with the same partner as before. What is the probability of them having another child with CF?
A 4-year-old child is rushed to the emergency department due to severe breathing difficulties caused by croup. The child was given oral dexamethasone by the GP earlier in the day. Upon examination, the child’s oxygen saturation is at 89% on room air and there is noticeable intercostal recession. What emergency treatment should be administered to the child?
A 5-year-old girl presents to the Emergency Department with a two-day history of diarrhoea and vomiting. She has drunk only small amounts and is becoming more lethargic. She has opened her bowels five times but has only passed urine once today. She is usually fit and well. Her 7-year-old sister was unwell with the same symptoms a few days before but has since recovered well.
On examination, she appears restless with sunken eyes, dry mucous membranes and capillary refill time (CRT) of 2 seconds, and she is tachycardic with a pulse of 150 beats per minute.
What would be your assessment of her clinical fluid status?
A 6-year-old girl was discovered to have increasing trouble getting up from the ground and climbing stairs.
What is the most probable diagnosis?
A 6-week-old baby is observed to have rocker-bottom feet, microcephaly and a small retracted chin. The mother is a refugee from Syria who gave birth recently but could not attend antenatal screening. What is the probable syndrome?