Biliary atresia is a rare condition that usually becomes symptomatic 2 to 8 weeks after birth. It can be congenital or acquired. Typical symptoms include jaundice, weight loss, dark urine and pale stools.

Relief of symptoms with food suggests duodenal ulceration, for which the pain gets worse on an empty stomach. In chronic pancreatitis, you would expect worsening of symptoms with food.

The presence of the pulses excluded Thromboangitis Obliterans. The pain is not suggestive of sciatica. The history doesn’t support a DVT or an embolus as there is no pain at rest, swelling or skin changes. So the most probable diagnosis is atherosclerosis as the chronic diabetes and smoking support it.

Carbon monoxide has high affinity for haemoglobin and myoglobin resulting in a left-shift of the oxygen dissociation curve and tissue hypoxia. There are approximately 50 deaths per year from accidental carbon monoxide poisoning in the UK. In these circumstances, antidotal therapy to block alcohol dehydrogenase with ethanol or 4-MP alone is insufficient to treat the poisoning. Data suggest that a severe lactic acidosis needs initial correction and in this patient the most appropriate treatment would be IV fluids with bicarbonate to correct the metabolic acidosis. Haemodialysis may be required thereafter.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a multisystemic disorder, belonging to the small vessel anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis. It is defined as an eosinophil-rich and necrotizing granulomatous inflammation often involving the respiratory tract, and necrotizing vasculitis predominantly affecting small to medium-sized vessels, associated with asthma and eosinophilia. ANCA (especially pANCA anti-myeloperoxidase) are present in 40-60% of the patients.

An anal fissure is a longitudinal tear of the perianal skin distal to the dentate line, often due to increased anal sphincter tone. Anal fissures are classified according to aetiology (e.g., trauma or underlying disease) or duration of disease (e.g., acute or chronic). They are typically very painful and may present with bright red blood per rectum (haematochezia). Anal fissures are a clinical diagnosis based on history and examination findings. Management is primarily conservative, and includes stool softeners, analgesia, and possible local muscle relaxation; because of the risk of incontinence, surgical intervention is a last resort.

The patient is 74 years old. She has had a recent gastroscopy and colonoscopy. She has a history of angina and a right CEA. She is having colicky abdominal pain after meals and weight loss, which points to a possible diagnosis of chronic mesenteric ischemia. Thus, you would want to do a contrast-enhanced CT scan of the abdomen to look for this. A 24 hour cardiac monitor would also be helpful to look for any abnormal rhythm that could be a potential aetiology of her disease.

Klinefelter syndrome (KS), the most common human sex chromosome disorder 47,XXY. It is characterized by hypogonadism (micro-orchidism, oligospermia/azoospermia) and gynecomastia in late puberty. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. These include the following:
Infants: Hypospadias, small phallus, cryptorchidism.
Toddlers: Developmental delay (especially expressive language skills), hypotonia.
Older boys and adolescent males: Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair.

From childhood with progression to early puberty, the pituitary-gonadal function observed is within normal limits for 47,XXY males.
At mid puberty and later, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) concentrations rise to hyper-gonadotropic levels, inhibin B levels fall until they are undetectable, and testosterone levels are at low or low-normal levels after an initial increase.

Fragile X syndrome, also termed Martin-Bell syndrome or marker X syndrome, is the most common cause of inherited mental retardation, intellectual disability, and autism.
However, the patient here does not have any mental disabilities as he already works as a clerk, and that too would make Down’s Syndrome less likely.

Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. Hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. By definition, either anosmia or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal.

Hyperthyroid patients show significantly lower resting arterial CO2 tension, tidal volume and significantly higher mean inspiratory flow and pa(O2) than healthy patients. This may of course lead to misdiagnosis of patients with hyperthyroidism as having hyperventilation syndrome.

Bendroflumethiazide, like all thiazide diuretics, may cause hyperuricemia that can lead to gout and gouty arthritis. A test for serum uric acid will confirm this suspicion.