A 13-year-old girl visits her GP with her parents, reporting amenorrhoea. The parents mention that their daughter has learning difficulties and requires extra support at school. During the examination, the doctor observes sparse breast development, broad shoulders, a wide neck, and elevated blood pressure. What is the probable chromosomal abnormality in this patient?
Among the various chromosomal anomalies, which one has the highest incidence of systemic lupus erythematosus (SLE), a multisystem autoimmune disease associated with genetic defects in the immune system and triggered by environmental factors?
An adolescent is seeking genetic counselling. His mother has phenylketonuria (PKU), which is inherited as autosomal recessive. He has a brother with PKU.
What is the likelihood that he carries the disease?
Given that PKU is an autosomal-recessive condition commonly diagnosed following birth, a teenager whose mother and brother both have PKU but he himself does not, is seeking genetic counselling. What is the probability that he is a carrier of the disease?
A 12-year-old girl is diagnosed with Marfan syndrome after visiting the optometrist due to a left sided lens dislocation. The optometrist observed other characteristics indicative of the condition and referred her to the paediatric team for additional evaluation.
What is the most accurate description of Marfan syndrome?
A 50-year-old man presents to the Emergency Department (ED) with epigastric pain and small volume coffee-ground vomiting. He has a history of peptic ulcers, and another ulcer is suspected. What initial first-line investigation is most appropriate to check if the ulcer might have perforated?
A 54-year-old man with a lengthy history of alcoholic cirrhosis reported experiencing intense dysphagia and a burning sensation in his retrosternal area. While performing an oesophagoscopy, the endoscopist inserted the endoscope until it reached the oesophageal hiatus of the diaphragm.
At which vertebral level is it most probable that the endoscope tip reached?
A 50-year-old man presents to gastro-enterology outpatients with worsening epigastric pain. Despite being prescribed omeprazole by his GP, he reports experiencing several episodes of blood-stained vomitus in recent weeks. An urgent OGD is performed, revealing multiple peptic ulcers. Biopsies are negative for H. pylori, but further investigations show elevated serum gastrin levels. The possibility of Zollinger–Ellison syndrome is being considered.
What is the most common location for gastrin-secreting tumors that lead to Zollinger–Ellison syndrome?
A 21-year-old male presents to the medical assessment unit with a 6-week history of increasing frequency of diarrhoea and abdominal pain. The patient is now opening his bowels up to eight times a day, and he is also needing to get up during the night to pass motions. He describes the stool as watery, with some mucous and blood. He is also suffering with intermittent cramping abdominal pain. He has had no recent foreign travel, and no other contacts have been unwell with similar symptoms. He has lost almost 6 kg in weight. He has no other past medical history of note.
Inflammatory bowel disease is high on the list of differentials.
Which one of the following is most commonly associated with Ulcerative colitis (UC)?
A 20-year-old woman comes to the clinic complaining of bloody diarrhoea and abdominal pain that has been going on for 5 weeks. She also reports unintentional weight loss during this time. A colonoscopy is performed, revealing abnormal, inflamed mucosa in the rectum, sigmoid, and descending colon. The doctor suspects ulcerative colitis and takes multiple biopsies. What finding is most indicative of ulcerative colitis?