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.

Non-invasive action via chest physiotherapy is helpful in the reduction or clearance of excessive secretions from airways.

The pain of myocardial infarction is usually severe and requires potent opiate analgesia. Intravenous diamorphine 2.5-5 mg (repeated as necessary) is the drug of choice and is not only a powerful analgesic but also has a useful anxiolytic effect.

Gentamicin acts along with benzylpenicillin to inhibit protein synthesis at the level of ribosomes. Indirectly it inhibits the translation process.

Before the initiation of trastuzumab, an echocardiography is a must to rule out any pre-existing cardiac abnormalities as trastuzumab is cardiotoxic.

Trastuzumab (Herceptin) is a monoclonal antibody directed against the HER2/neu receptor. It is used mainly in metastatic breast cancer although some patients with early disease are now also given trastuzumab.

Adverse effects include:
Flu-like symptoms and diarrhoea are common.
Cardiotoxicity:
– Risk increases when anthracyclines are used concomitantly.
– Trastuzumab-induced cardiac dysfunctions are regarded as less severe and largely reversible because primary cardiomyocyte do not show ultrastructure changes unlike those associated with anthracycline-induced cardiotoxicity.
– Primary myocyte injury does not occur in patients who were treated with trastuzumab.

Intracranial pressure (ICP) is a complex brain modality that determines cerebral perfusion pressure (CPP), which is the difference between arterial blood pressure (ABP), and ICP. Raised ICP reduces CPP and blood delivery to the brain. This jeopardizes cerebral function and organismal survival in many species. A massive rise in ICP is also known to produce an increase in ABP, bradycardia and respiratory irregularities termed Cushing response. This mechanism is generally considered to be an agonal and terminal event occurring in extreme condition of brainstem ischaemia leading to a sympatho-adrenal response.

Antibiotic prophylaxis is utilized to avert infection and is based on the degree of contamination involved in the surgical procedure. Operations where the wound is contained with minimal risk of contamination, antibiotic prophylaxis is questionable. In this case there is a high risk of contamination.

Drugs causing torsades de pointes are Amiodarone, Chlorpromazine, Clarithromycin, Disopyramide, Dofetilide, Erythromycin, Haloperidol, Methadone, Procainamide, Quinidine, Sotalol, Levofloxacin, Moxifloxacin, Nilotinib, Ondansetron, Ranolazine, Sunitinib, Ziprasidone, Amitriptyline, Ciprofloxacin, Imipramine, Chlorthalidone, Dasatinib, Hydrochlorothiazide, Furosemide.

Astereognosis is associated with lesions to the parietal lobe, not the temporal lobe, so this symptom would not arise in this patient.

Modified release morphine in BD dose is the strongest opioid of the selection.

Since March 2011, tranexamic acid has been available to buy from pharmacies to help treat heavy blood loss during menstruation. NSAIDs (such as ibuprofen and naproxen) are available to purchase over the counter, but these aid in the treatment of dysmenorrhea rather than menorrhagia. MIRENA, norethisterone, and COCP are not available to purchase over the counter to treat heavy blood loss (however COCP is available for contraceptive use).

Fat necrosis is often a result of a trauma or surgery. In fat necrosis the enzyme lipase releases fatty acids from triglycerides. The fatty acids combine with calcium to form soaps. These soaps appear as white chalky deposits which are firm lumps with no associated discharge. The given case has a bruise which indicates prior trauma.

Both fibrates and nicotinic acid have been associated with myositis, especially when combined with a statin. However, the Committee on Safety of Medicines has produced guidance which specifically warns about the concomitant prescription of fibrates with statins concerning muscle toxicity.

Bezafibrate: It is a fibric acid derivative (fibrate) that has been used as a class of agents known to decrease triglyceride levels while substantially increasing HDL-C levels.
Pharmacological effects:
– Increases VLDL catabolism by increasing lipoprotein and hepatic triglyceride lipase.
– Decreases triglyceride synthesis by inhibiting acetyl-CoA reductase.
– Decreases cholesterol synthesis by inhibiting HMG-CoA reductase.

Side effects:
– Hypersensitivity
– Primary biliary cirrhosis
– Pre-existing gallbladder disease
– Concurrent use with HMG-CoA inhibitors (statins) can produce myopathy
– Hepatic/renal impairment in a patient warrants dose adjustment as this drug is primarily excreted via the renal mechanism.

Contraindications: Concurrent use of MAO inhibitors, hypersensitivity, pre-existing cholestasis, and pregnancy.

Use: It can be used to treat Barth syndrome (characterized by dilated cardiomyopathy, neutropenia (presenting with recurrent infections), skeletal myopathy and short stature)

Bicuspid aortic valve is the most common congenital cardiovascular anomaly, occurring in 1-2% of the population. Coarctation and bicuspid aortic valve occur more frequently in males with a prevalence of approximately 4:1. A high prevalence of these same cardiovascular lesions is also found in women with Turner’s syndrome.

Thrombolytic therapy is indicated in patients with evidence of ST-segment elevation MI (STEMI) or presumably new left bundle-branch block (LBBB) presenting within 12 hours of the onset of symptoms if there are no contraindications to fibrinolysis. STEMI is defined as new ST elevation at the J point in at least two contiguous leads of 2 mm (0.2 mV) or more in men or 1.5 mm (0.15 mV) in women in leads V2-V3 and/or 1 mm (0.1 mV) or more in other contiguous limb leads.

Protein-calorie malnutrition is observed in almost 50% of dialysis patients, contributing to increased morbidity and mortality. All the other complications listed can usually be prevented thanks to modern-day dialysis techniques.

According to the British Society of Gastroenterology guidelines – this patient has 3-4 adenomas with 3 of them > 1 cm in size. This places him at medium risk and the recommendation is for a 3-year follow up period.

Severe vitamin C deficiency results in scurvy, a disorder characterized by hemorrhagic manifestations and abnormal osteoid and dentin formation.
Vitamin C plays a role in collagen, carnitine, hormone, and amino acid formation. It is essential for bone and blood vessel health and wound healing and facilitates recovery from burns. Vitamin C is also an antioxidant, supports immune function, and facilitates the absorption of iron (see table Sources, Functions, and Effects of Vitamins).
Dietary sources of vitamin C include citrus fruits, tomatoes, potatoes, broccoli, strawberries, and sweet peppers. (See also Overview of Vitamins.)

Bronchial carcinoids are uncommon, slow growing, low-grade, malignant neoplasms, comprising 1-2% of all primary lung cancers.
It is believed to be derived from surface of bronchial glandular epithelium. Mostly located centrally, they produce symptoms and signs of bronchial obstruction such as localized wheeze, non resolving recurrent pneumonitis, cough, chest pain, and fever. Haemoptysis is present in approximately 50% of the cases due to their central origin and hypervascularity.
Central bronchial carcinoids are more common than the peripheral type and are seen as endobronchial nodules or hilar/perihilar mass closely related to the adjacent bronchus. Chest X-ray may not show the central lesion depending on how small it is.

Erythropoietin (EPO) is used to distinguish between primary and secondary polycythaemia. Secondary polycythaemia can be caused by tumours in the kidney that may secrete EPO or EPO-like proteins.

ERCP is necessary to look for any obstruction or compression of the extra-hepatic bile duct. The clay-coloured stools are a result of impaired bilirubin movement into the duodenum.

At 29 years old, the most probable cause of this arrhythmia is thyrotoxicosis. β blockers relieve symptoms such as tachycardia, tremor, and anxiety in thyrotoxic patients. β blockade should be used as the primary treatment only in patients with thyrotoxicosis due to thyroiditis.

The patient has small cell lung cancer presented by paraneoplastic syndrome; Ectopic ACTH secretion.

Small cell lung cancer (SCLC), previously known as oat cell carcinoma is a neuroendocrine carcinoma that exhibits aggressive behaviour, rapid growth, early spread to distant sites, exquisite sensitivity to chemotherapy and radiation, and a frequent association with distinct paraneoplastic syndromes.
Common presenting signs and symptoms of the disease, which very often occur in advanced-stage disease, include the following:
– Shortness of breath
– Cough
– Bone pain
– Weight loss
– Fatigue
– Neurologic dysfunction
Most patients with this disease present with a short duration of symptoms, usually only 8-12 weeks before presentation. The clinical manifestations of SCLC can result from local tumour growth, intrathoracic spread, distant spread, and/or paraneoplastic syndromes.
SIADH is present in 15% of the patients and Ectopic secretion of ACTH is present in 2-5% of the patients leading to ectopic Cushing’s syndrome.

Crohn’s Disease (CD) is an inflammatory bowel disease, the pathogenesis of which is not fully understood. The clinical presentation of CD may be similar to ulcerative colitis (UC), the other most common inflammatory bowel disease. CD mostly affects young adults and adolescents between the ages of 15 and 35. It is typically located in the terminal ileum, but can discontinuously affect the entire gastrointestinal tract and commonly leads to complications such as fistulas, abscesses, and stenosis. Clinical features include diarrhoea, weight loss, and abdominal pain in the right lower quadrant (RLQ), as well as extraintestinal manifestations in the eyes, joints, or skin. It is often difficult to diagnose because there is no confirmatory test. Diagnosis is therefore based on the patient’s medical history, physical examination, lab tests, imaging (e.g., MRI), endoscopy, and serological testing. Acute episodes are treated with corticosteroids, and in severe cases, immunosuppressants may be indicated. Antibiotics and surgical intervention may be needed to help treat complications. Because the entire gastrointestinal tract may be affected, Crohn disease cannot be cured (in contrast to ulcerative colitis). The goal of treatment is thus to avoid the progression and recurrence of inflammatory episodes.

Sunlight, especially its ultraviolet radiation component, can cause increased or additional types of damage in predisposed individuals, such as those taking certain phototoxic drugs, or those with certain conditions associated with photosensitivity, including:
– Psoriasis
– Atopic eczema
– Erythema multiforme
– Seborrheic dermatitis
– Autoimmune bullous diseases (immunobullous diseases)
– Mycosis fungoides
– Smith-Lemli-Opitz syndrome
– Porphyria cutanea tarda
Also, many conditions are aggravated by strong light, including:
– Systemic lupus erythematosus
– Sjögren’s syndrome
– Sinear Usher syndrome
– Rosacea
– Dermatomyositis
– Darier’s disease
– Kindler-Weary syndrome
Acute intermittent porphyria (AIP) belongs to the group inborn errors of metabolism and most patients with AIP are not light sensitive.

According to recent guidelines on asthma management, after administering SABA as needed, low doses of ICS are indicated. In this case the patient already takes budesonide so he now requires a long acting beta agonist (LABA), in this case salmeterol.

The fact that he has recently stopped taking his valganciclovir, anti-viral, is key to the answer to this question. This makes the answer quite plainly donor-acquired CMV infection over all of the other answer choices. He needs to stay on prophylaxis against this, particularly in the first 3 months after transplant. Symptoms and presentations of CMV infection can include fever, abdominal pain, diarrhoea, pneumonitis, hepatitis, hematologic abnormalities, retinitis, and esophagitis.

All of the aforementioned listed tumours, except brain tumours, can metastasise to lungs and produce the typical CXR picture consisting of hilar lymphadenopathy with either diffuse multinodular shadows resembling miliary disease or multiple large well-defined masses (canon balls). Occasionally, cavitation or calcification may also be seen.

Most brain tumours, however, do not metastasise. Some, derived form neural elements, do so but in these cases, intraparenchymal metastases generally precede distant haematogenous spread.

Cryoglobulins are proteins that precipitate from an individual’s serum or plasma at temperatures lower than 37°C. They can be a mixture of immunoglobulin (Ig) and complement components or immunoglobulins alone. These cryoglobulins deposit in medium and large-sized blood vessels throughout the body, causing endothelial injury and end-organ damage known as cryoglobulinemia.

Raynaud’s syndrome causes spasms in small blood vessels in your fingers and toes. This limits blood flow and leads to symptoms like skin color changes, cold skin and a pins and needles sensation. Common triggers of Raynaud’s attacks include cold weather and stress. Many people have mild symptoms that they can manage through lifestyle changes.

Ethanol competes with ethylene glycol for alcohol dehydrogenase and thus, helps manage a patient with ethylene glycol toxicity.

Ethylene glycol is a type of alcohol used as a coolant or antifreeze
Features of toxicity are divided into 3 stages:
Stage 1: (30 min to 12 hours after exposure) Symptoms similar to alcohol intoxication: confusion, slurred speech, dizziness (CNS depression)
Stage 2: (12 – 48 hours after exposure) Metabolic acidosis with a high anion gap and high osmolar gap. Also tachycardia, hypertension
Stage 3: (24 – 72 hours after exposure) Acute renal failure

Management has changed in recent times:
Fomepizole, an inhibitor of alcohol dehydrogenase, is now used first-line in preference to ethanol.
Ethanol has been used for many years works by competing with ethylene glycol for the enzyme alcohol dehydrogenase this limits the formation of toxic metabolites (e.g. glycolaldehyde and glycolic acid) which are responsible for the hemodynamic/metabolic features of poisoning.
Haemodialysis has a role in refractory cases.