A 2-week-old infant is presented with vomiting, feeding intolerance, and abdominal distension. During examination, it is observed that the nappy contains watery stools with specks of blood. An abdominal X-ray is performed, which shows gas cysts in the bowel wall. What is the probable diagnosis?
A 68-year-old man of African descent with a family history of cancer presented with an elevated PSA level of 23 ng/ml and was diagnosed with adenocarcinoma with a Gleason score of 7. Magnetic resonance imaging revealed abnormal signals on both sides of the prostate, and a bone scan showed two bone metastatic lesions. The clinical stage was T2 N0 M1b, and he received surgical and hormonal treatment. Genetic testing was performed to determine the most likely mutation he has.
What mutation is he most likely to have?
A 4-year-old patient presents with recurrent chest infections and green sputum production. Upon examination, a chest x-ray reveals ring shadows and bronchial wall thickening in both lung bases. What is the probable diagnosis?
A 3-year-old girl is brought to her pediatrician due to frequent respiratory infections that have resulted in hospitalization. Her parents have also noticed a decrease in her weight from the 50th to the 25th percentile on the growth chart. She was born at term with a normal birth weight. During the physical examination, the pediatrician observes the presence of nasal polyps. What is the probable underlying condition?
You are requested to assess a 38-week-gestation boy in the postnatal ward who is now 36-hours-old. The baby was delivered via forceps and has noticeable facial bruising. He is being formula-fed and is progressing well in the postnatal period except for an elevated transcutaneous bilirubin measurement. What could be the probable reason for the raised bilirubin level in this newborn?
A 35-year-old woman delivers a male infant who presents with low muscle tone and is later diagnosed with Down’s syndrome. Which of the following features is the least probable in this case?
A 17-year-old boy with cystic fibrosis is due for his yearly check-up. He was diagnosed with cystic fibrosis 16 years ago. Despite having good exercise tolerance and minimal gastrointestinal symptoms, he has been hospitalized twice in the past year. His recent blood work shows iron-deficient anemia, and multiple sputum cultures have tested positive for Burkholderia species. His latest FEV1 is 55% of his predicted value. What aspect of his medical history poses the greatest risk for mortality?
A 14-month-old boy is brought to the children’s emergency department by his parents who report loss of consciousness and seizure activity. Paramedics state that he was not seizing when they arrived. He has a temperature of 38.5ºC and has been unwell recently. His other observations are normal. He has no known past medical history.
After investigations, the child is diagnosed with a febrile convulsion. What advice should you give his parents regarding this new diagnosis?
A 9-month-old male is found unresponsive by his father at home. The father immediately calls for emergency services and begins to assess his son’s condition. One of the first things the father does is check his son’s pulse.
Where should the father check for the pulse during this assessment?
A newborn baby, delivered via C-section at term, has been diagnosed with a ventricular septal defect (VSD) and is being reviewed by cardiology. The mother is feeling anxious and wants to know what risks her son may face. What is the high-risk factor associated with VSD in newborns?