Hemochromatosis is a condition that leads to abnormal iron deposition in specific organs. There are two main types: primary (hereditary) and secondary (e.g., transfusion-related). The most common form is hereditary autosomal recessive hemochromatosis type 1, which is caused by an underlying genetic defect that results in partially uninhibited absorption of iron in the small intestine.
Hemochromatosis is mostly asymptomatic but can become symptomatic, usually between the third and fifth decade of life, when poisonous levels of iron have had time to accumulate in the body. Symptoms include fatigue, hyperpigmentation, diabetes mellitus (bronze diabetes), and arthralgia. The deposits may lead to various organ diseases, the most typical being the development of liver cirrhosis, which is accompanied by an increased risk of hepatocellular carcinoma (HCC). Serum ferritin and transferrin saturation levels are typically elevated. Molecular genetic testing or a liver biopsy may be used to confirm the diagnosis. Treatment primarily consists of repeated phlebotomy to reduce iron levels. In addition, dietary changes and drug therapy (chelating agents such as deferoxamine) may be used to influence the amount of iron in the body.

This patient has features of mania including increased sexual activity, excessive pursuit of pleasurable activities and excessive talking. There is a history of a depressive episode as well (low mood and suicidal attempt). Therefore, this patient most likely has a bipolar affective disorder.

CT pulmonary angiography will decide the proper cause of her symptoms. Until that has happened LMWP should be continued.

Finding it difficult to swallow both food and drink with a narrow oesophagus is consistent with a diagnosis of achalasia.

Jaundice is considered pathologic if it presents within the first 24 hours after birth. Although up to 60 percent of term new-borns have clinical jaundice in the first week of life, few have significant underlying disease.1,2 However, hyperbilirubinemia in the new-born period can be associated with severe illnesses such as haemolytic disease, metabolic and endocrine disorders, anatomic abnormalities of the liver, and infections. The risk factors here is the mothers blood ground which suggests the cause is fetal-maternal blood group incompatibility.

A screening blood test for the infectious diseases HIV, syphilis, rubella, toxoplasmosis and hepatitis B is offered to all pregnant females so as to reduce the chances of transmission to the neonate.

Mirena coil is used for contraception and for long term birth control. It causes stoppage of menstrual bleeding however, in a few cases there may be inter-menstrual spotting.

Glioblastoma multiforme is the most common anaplastic malignant tumour of the glial cells. It is a mixture of poorly differentiated anaplastic astrocytes.

Anti-Sm antibodies are essential for diagnosis of SLE, especially in anti-dsDNA-negative patients. ANA are also found in 95% of the patients with SLE but they may also occur with other conditions like Juvenile inflammatory arthritis, chronic activity hepatitis, and Sjogren’s syndrome. Anti-Ro, although also found with SLE are more characteristic of Sjogren Syndrome. RF is usually associated with rheumatoid arthritis and cANCA with Wegener’s granulomatosis, Churg Strauss, and microscopic polyangiitis.

Temporal arteritis is a chronic large- and medium-sized vessel vasculitis that typically involves the temporal arteries. Classical symptoms include temporal headaches, jaw claudication, amaurosis fugax. Physical exam shows scalp tenderness, palpation of the temporal area may demonstrate an absent pulse, knot-like swelling, and vision loss. Lab results reveal an increased erythematous sedimentation rate and C-reactive protein. Temporal artery biopsy confirms the diagnosis. Management approach: high-dose systemic corticosteroids should be promptly administered even before the diagnosis is established. Temporal artery biopsy confirms the diagnosis. Inability to manage this or administer glucocorticoids might lead to development of blindness.

This patient has leukopenia following chemotherapy and she is more prone to severe bacterial infections. Neutropenic sepsis is common among cancer patients and it is one of the main reasons for death amongst these patients. As the first line monotherapy for high-risk patients, Piperacillin-tazobactam, Cefepime, Meropenem and Imipenem-cilastatin can be started as they all have antipseudomonal activity.

The Afro-Caribbean population is found to have an increased sensitivity of blood pressure to salt intake as well as a reduced tendency to excrete the ingested salt, associated with low renin levels. ACE inhibitors will then be an ineffective group of anti-hypertensive drugs for this specific population.

IV calcium gluconate is the drug of choice in hyperkalaemia, as it is a life threatening condition and prompt management is required.

Acute lymphoblastic leukaemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, frequent infections with fever as well as anaemia with thrombocytopenia. As an acute leukaemia, ALL progresses rapidly and is typically fatal within weeks or months if left untreated. The patient’s age also favours the diagnosis of ALL as it occurs most commonly in children, particularly those between the ages of two and five.

One-third of patients with Guillain-Barre syndrome suffer from diaphragm weakness which can lead to further respiratory complications if there is involvement of the tongue, palate, and neck muscles. Forced vital capacity (FVC) is the best way to monitor respiratory muscle function by assessing it repeatedly. Admission for ITU is suggested when FVC is below 20ml/kg and intubation recommended when FVC is 15ml/kg or below. FVC is used in any neurological disorders wherein the respiratory muscles are affected.

Ventricular tachycardia is not linked with Wolff-Parkinson-White syndrome. The other options are linked to WPW syndrome.

Delirium tremens occurs due to alcohol withdrawal and presents clinically with hallucinations, agitations, confusion and hyperthermia. Wernicke’s encephalopathy is characterised by encephalopathy, oculomotor dysfunction and ataxic gait. In Korsakoff’s syndrome, there is marked short term memory loss, however the long term memory is preserved & the sensorium is also intact.

Positive Kernig’s and Brudzinski’s signs may indicate meningitis. While awaiting blood culture results, a broad-spectrum antibiotic such as Cefotaxime (a third generation cephalosporin) is preferred over the other medications listed.

Hyperuricemia is an elevated uric acid level in the blood. The normal upper limit is 6.8mg/dL, and anything over 7 mg/dL is considered saturated, and symptoms can occur. Causes of hyperuricemia can be classified into three functional types:
1. Increased production of uric acid – Purine rich diet, Tumour lysis syndrome, HGPRT deficiency (Lesch-Nyhan and Kelley-Seegmiller syndromes), Increased PRPP synthetase activity and Polycythaemia
2. Decreased excretion of uric acid – Renal impairment, Metabolic syndrome, Drugs (diuretics, low-dose aspirin, cyclosporin, tacrolimus, pyrazinamide, ethambutol, levodopa, nicotinic acid), Acidosis, Pre-eclampsia and eclampsia, Hypothyroidism and hyperparathyroidism, Sarcoidosis, Familial juvenile gouty nephropathy, Chronic lead intoxication, Trisomy 21
3. Idiopathic and mixed type – Alcohol, Exercise, Glucose-6-phosphatase deficiency, Aldolase B deficiency

Pneumocystis carinii pneumonia, is an opportunistic fungal lung infection occurring almost exclusively in immunocompromised individuals. In 50% of cases, PCP is the first manifestation of AIDS (acquired immune deficiency syndrome), but it may be caused by other immunodeficiency disorders. PCP should be suspected in patients with a history of progressive dyspnoea and a dry cough with resistance to standard antibiotic treatment. Signs that support this diagnosis include a CD4 count < 200/μL, an increased beta-D-glucan level, and diffuse bilateral infiltrates on chest x-ray. Management of PCP includes high-dose trimethoprim/sulfamethoxazole (TMP/SMX), treatment of the underlying immunodeficiency disorder, and steroids in the case of severe respiratory insufficiency. TB is less likely to be present in this case as ESR is relatively low and chest x-ray appeared normal.

Chicken pox in adults may manifest with acute encephalitis, causing the confusional syndrome known as delirium. Blisters on the trunk favour the diagnosis. The trip to Italy however seems unimportant since the incubation period of chicken pox is 10 to 21 days.

Regarding the pharmacological management, Risperidone is the most suitable drug from the given answers as it is recommended for the treatment of aggression associated with moderate to severe Alzheimer’s disease. Quetiapine and Benzodiazepine are not recommended.

A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 a scaffolding protein is encoded by FBN1 on human chromosome 15q21 and fibrillin-2 is encoded by FBN2 on 5q23. Mutations in FBN1 produce Marfan syndrome, a pleiotropic autosomal dominant connective tissue disorder with prominent manifestations in the skeleton, eye and cardiovascular system. A number of conditions related to Marfan syndrome are also due to FBN1 mutations.

Section 5, which is an emergency section applied only in England, gives any physician the right to detain someone in the hospital for up to 72 hours, during which time the patient should receive an assessment that decides if further detention under the Mental Health Act is needed. Patients that are detained under section 5 of Mental Health Act, are suspected to have a psychiatric cause for their disease, but they lack insight on this matter.

Hepatitis B full vaccine and Ig should be given to babies born to hepatitis B positive mothers. Hepatitis B vaccine alone or Ig alone is not sufficient to prevent the infection in the new-born baby.

Oligomenorrhoea and BMI of 40.4 is suggestive of Polycystic ovary syndrome (PCOS). To diagnose PCOS 2 out of following 3 criteria should be present : oligo/anovulation, hyperandrogenism, clinical (hirsutism or less commonly male pattern alopecia) or biochemical (raised FAI or free testosterone) and polycystic ovaries on ultrasound.

Painful haematuria suggests trauma, infection or calculi, whereas painless haematuria suggests a possible occult malignancy. This man is apyrexial with normal WCC and CRP which should effectively exclude infection as a cause for his symptoms. There is no history of trauma in this scenario (often catheter-associated) which makes this cause unlikely. It is worth noting that haematuria associated with injury tends to be macroscopic. Therefore, bladder calculi are the most likely source of his symptoms. Imaging will help to determine the presence of calculi.

Opioid analgesics produce pain relief by attaching to the opioid receptors in the brain. Out of these, codeine is the least potent and diamorphine the most potent. Codeine is used to relieve mild to moderate pain. Morphine is a stronger analgesic used to treat pain like that experienced after surgery or injury. Oxycodone acts like the endorphins in the brain and reduces pain sensation. It is more potent than codeine and morphine and is used for relieving moderate to severe forms of pain. Among the listed, diamorphine is the most potent opioid analgesic. It is administered intravenously, subcutaneously, or intramuscularly to treat severe pain after surgery or in terminally-ill patients.

Secretin is produced in the duodenum in response to a low pH and the presence of carbohydrate and fat. It turns off antral G cell gastrin synthesis. While others that are mentioned such as gastrin, histamine etc. are involved in increased acid secretion.

Inguinal LN’s drain the skin and subcutaneous tissue of the lower abdominal wall, perineum, buttocks, external genitalia, and lower limbs. They are subdivided into three groups of lymph nodes (nodi lymphoid):
– inferior group of superficial inguinal lymph nodes, located inferior to the saphenous opening, receiving drainage of the lower limb;
– superolateral superficial inguinal lymph nodes located lateral to the saphenous opening, receiving drainage of lateral buttock and lower anterior abdominal wall; and
– superomedial superficial inguinal lymph nodes, located medial to the saphenous opening, receiving drainage of the perineum and external genitalia.