According to echocardiography findings pulmonary pressure is closer to systemic blood pressure and it is evidence of pulmonary hypertension. Because of the reversal of shunt due to pulmonary hypertension, cyanosis and clubbing have developed. So the most probable diagnosis is Eisenmenger’s syndrome.

Hypertrophic cardiomyopathy is an autosomal dominant condition. Patients present with sudden cardiac death, dyspnoea, syncope and presyncope, angina, palpitations, orthopnoea and paroxysmal nocturnal dyspnoea, Congestive heart failure and dizziness. Physical findings include double or triple apical impulse, prominent a wave in the JVP, an ejection systolic crescendo-decrescendo murmur and a holosystolic murmur at the apex and axilla of mitral regurgitation.
ECG shows ST-T wave abnormalities and LVH, axis deviation (right or left), conduction abnormalities (P-R prolongation, bundle-branch block), sinus bradycardia with ectopic atrial rhythm, atrial enlargement, abnormal and prominent Q wave in the anterior precordial and lateral limb leads.
2D echocardiography shows abnormal systolic anterior leaflet motion of the mitral valve, LVH, left atrial enlargement, small ventricular chamber size, septal hypertrophy with septal-to-free wall ratio greater than 1.4:1, mitral valve prolapse and mitral regurgitation, decreased midaortic flow, partial systolic closure of the aortic valve in midsystole

Gilles de la Tourette syndrome is the most severe and rare of the tic syndromes, consisting of multiple tics involving both motor actions and vocalisation. Onset is usually in childhood. Symptoms include utterance of obscenities (coprolalia); echolalia (repetition of another person’s spoken words) and palilalia (involuntary repetition of words, phrases, or sentences).
The underlying cause is unknown, with no particular imaging or standard histopathological abnormalities having been identified. The EEG shows non-specific abnormalities in about half of patients. However, more recent immunocytochemical studies have suggested altered dopamine uptake in the striatal system.
Risperidone is an effective therapeutic option without the effects associated with chlorpromazine and haloperidol.

The cytotoxic drug bleomycin can cause bleomycin-induced pneumonitis (BIP). It usually occurs during chemotherapy but can also occur up to six months post-therapy.

Out of the aforementioned markers, low corrected calcium is the only biochemistry result consistent with the diagnosis. All of the other markers are elevated in TLS.

TLS is a potentially fatal condition occurring as a complication during the treatment of high-grade lymphomas and leukaemias. It occurs from the simultaneous breakdown (lysis) of the tumour cells and subsequent release of chemicals into the bloodstream. This leads to hyperkalaemia and hyperphosphatemia in the presence of hyponatraemia. As phosphate precipitates calcium, the serum concentration of calcium becomes low. TLS can occur in the absence of chemotherapy, but it is usually triggered by the introduction of combination chemotherapy. Awareness of the condition is critical for its prophylactic management.

Patients at high risk of TLS should be given IV rasburicase or IV allopurinol immediately prior to and during the first few days of chemotherapy. Rasburicase is a recombinant version of urate oxidase which is an enzyme that metabolizes uric acid to allantoin. Allantoin is much more water soluble than uric acid and is therefore more easily excreted by the kidneys. Patients in lower-risk groups
should be given oral allopurinol during cycles of chemotherapy in an attempt to avoid the condition.

TLS is graded according to the Cairo-Bishop scoring system as:
1. Laboratory tumour lysis syndrome
2. Clinical tumour lysis syndrome

Guillain-Barre syndrome is an immune mediated demyelination of the peripheral nervous system often triggered by an infection (classically Campylobacter jejuni). Characteristic features include progressive weakness of all four limbs, and it is classically ascending, affecting the lower extremities first. Sensory symptoms tend to be mild.

Functional neurological syndrome can be discounted due to presence of hard neurological signs. Multiple sclerosis can be excluded because of the presence of lower motor neuron signs and absence of upper motor neuron signs. Chronic inflammatory demyelinating polyneuropathy is the chronic form of Guillain-Barre syndrome.

Interferon alfa alone, not interferon alfa and ribavirin, has been shown to achieve HBeAg seroconversion for patients with HBeAg-positive chronic hepatitis B.

The frequency of type-1 diabetes is higher in siblings of diabetic parents (e.g., in the UK 6% by age 30) than in the general population (in the U.K. 0.4% by age 30), while disease concordance in monozygotic (identical) twins is about 40% i.e. the risk that the unaffected twin will develop diabetes.

Hyperacute rejection appears in the first minutes following transplantation and occurs only in vascularized grafts. This very fast rejection is characterized by vessel thrombosis leading to graft necrosis. Hyperacute rejection is caused by the presence of antidonor antibodies existing in the recipient before transplantation. These antibodies induce both complement activation and stimulation of endothelial cells to secrete Von Willebrand procoagulant factor, resulting in platelet adhesion and aggregation. The result of these series of reactions is the generation of intravascular thrombosis leading to lesion formation and ultimately to graft loss. Today, this type of rejection is avoided in most cases by checking for ABO compatibility and by excluding the presence of antidonor human leukocyte antigen (HLA) antibodies by cross-match techniques between donor graft cells and recipient sera. This type of rejection is also observed in models of xenotransplantation of vascularized organs between phylogenetically distant species when no immunosuppressive treatment is given to the recipients.

This patient is most likely suffering from hand, foot mouth disease which is caused by coxsackie virus A16. Its incubation period ranges from 5-7 days and only symptomatic treatment is required.

Primary rubella infection during pregnancy, particularly during the first trimester, can affect several organs and cause birth defects that are responsible for congenital rubella syndrome (CRS). The most common defects of CRS are hearing impairment (unilateral or bilateral sensorineural), eye defects (e.g., cataracts, congenital glaucoma, or pigmentary retinopathy), and cardiac defects (e.g., patent ductus arteriosus or peripheral pulmonic stenosis). Congenital hearing loss is the most common sequela, occurring in approximately 60% of cases, especially when infection occurs in the 4th month of pregnancy.

Giardiasis also known as travellers diarrhoea is caused by Giardia lamblia, which is an anaerobic parasite affecting the small intestine. It can lead to diarrhoea, flatulence, abdominal cramps, malodourous greasy stools and intestinal malabsorption. It can also cause bloody diarrhoea. The investigation of choice is stool examination for trophozoites and cysts. It is treated by metronidazole and tinidazole as first line therapies.

CADASIL is the most common form of hereditary stroke disorder. This case has a strong history of migraine with aura with stroke-like episodes, characteristic of CADASIL. Additionally, there is positive family history of migraine and early dementia but no other vascular risk factors like hypertension, diabetes, or hypercholesterolaemia, which all confirm the suspicion of CADASIL, an arteriopathy where there is thickening of the smooth muscle cells in the blood vessels.

Pregnant patient in a third world country with hepatitis: The answer is most likely Hepatitis E. The mortality for Hepatitis E in pregnant women is very high. It is transmitted faecal-orally. There is no hepatitis G. Hepatitis C, B, A are less likely to be the correct answer than E given it’s classic association with pregnancy and poor living conditions.

SIGN produced guidelines in 2008 on the management of migraines. Key points include that if patients have migraines with aura then the combined oral contraceptive (COC) is absolutely contraindicated due to an increased risk of stroke (relative risk 8.72).

Haemoptysis is a symptom which indicates the worsening of mitral stenosis. It occurs due to the rupture of pulmonary veins or the capillary system due to pulmonary venous hypertension. Elevated serum creatinine is seen in worsening aortic stenosis. Worsening of tricuspid regurgitation causes ascites and a pulsatile liver.

Northern blotting’s purpose is to measure the size and amount of RNA transcribed from a specific gene of interest.

Glucagon-like peptide 1 (GLP-1) is a 30-amino acid peptide hormone produced in the intestinal epithelial endocrine L-cells by differential processing of proglucagon. GLP-1 is released in response to meal intake.
The main actions of GLP-1 are to stimulate insulin secretion (i.e., to act as an incretin hormone) and to inhibit glucagon secretion, thereby contributing to limit postprandial glucose excursions. It also inhibits gastrointestinal motility and secretion and thus acts as an enterogastrone and part of the ileal brake mechanism. GLP-1 also appears to be a physiological regulator of appetite and food intake.
Decreased secretion of GLP-1 may contribute to the development of obesity, and exaggerated secretion may be responsible for postprandial reactive hypoglycaemia.

Liver flap is pathognomonic for liver failure. Paracetamol (also known as acetaminophen) overdose usually presents with symptoms including liver failure, resulting in confusion, jaundice, and coagulopathy a few days after overdose. The first 24 hours, people usually have minimal symptoms. Diagnosis is based on blood levels of acetaminophen at specific times after it was taken (see reference). If she took it a few days ago, levels may indeed be undetectable. The hepatitis B serology suggests prior vaccination. Wilson’s disease is not the most likely diagnosis given her presentation. The AST:ALT ratio would be expected to be reversed in alcohol induced liver failure.

The NICE 2019 guidelines states that in patients who are uncontrolled with a SABA (Salbutamol) and ICS (Beclomethasone), LTRA should be added.
If asthma is uncontrolled in adults (aged 17 and over) on a low dose of ICS as maintenance therapy, offer a leukotriene receptor antagonist (LTRA) in addition to the ICS and review the response to treatment in 4 to 8 weeks.

Weber’s test – if there is a sensorineural problem, the sound is localized to the unaffected side (right), indicating a problem on the left side.

The clinical presentation is suggestive of congenital rubella syndrome. The classic triad of presenting symptoms includes sensorineural hearing loss, ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and congenital heart disease (patent ductus arteriosus and pulmonary artery stenosis). Other findings in congenital rubella syndrome include CNS abnormalities (mental retardation, behavioural disorders, encephalographic abnormalities, hypotonia, meningoencephalitis, and microcephaly), hepatosplenomegaly, and jaundice.

Subcutaneous (S/C) low-molecular-weight heparin (LMWH) is a preferred anticoagulant in pregnancy. Warfarin is contraindicated due to its teratogenic effects, especially in the first trimester and at term.

Pregnancy is a hypercoagulable state with the majority of VTE incidents occurring in the last trimester.

Hypercoagulability in pregnancy is caused by:
1. Increase in factors VII, VIII, X, and fibrinogen
2. Decrease in protein S
3. Uterus pressing on IVC causing venous stasis in legs

Management options include:
1. S/C LMWH preferred to IV heparin (less bleeding and thrombocytopaenia)
2. Warfarin contraindicated

Over consumption of fluids, prolonged race duration and inadequate training all can predispose to acute hyponatraemia.
Mild symptoms include a decreased ability to think, headaches, nausea, and an increased risk of falls. Severe symptoms include confusion, seizures, and coma. Normal serum sodium levels are 135 – 145 mEq/liter (135 – 145 mmol/L). Hyponatremia is generally defined as a serum sodium level of less than 135 mEq/L and is considered severe when the level is below 120 mEq/L.
The correct treatment to give is hypertonic saline. Decompressive craniotomy would help alleviate raised intracranial pressure due to cerebral oedema however is not an appropriate first line treatment. Demeclocycline is used for SIADH and mannitol is more likely to be used in the context of traumatic brain injury.
Hyponatremia is corrected slowly, to lessen the risk of the development of central pontine myelinolysis (CPM), a severe neurological disease involving a breakdown of the myelin sheaths covering parts of nerve cells. During treatment of hyponatremia, the serum sodium (salt level in the blood) should not rise by more than 8 mmol/L over 24 hours.

Hereditary C1 inhibitor deficiency leads to recurrent angioedema without urticaria or pruritus. Physical triggers include dental work, surgery or intubation. Medical triggers include angiotensin-converting enzyme (ACE) inhibitor, tamoxifen, oestrogen-containing medications (e.g., hormone replacement therapy and oral contraceptives). It is diagnosed on the basis of low levels of C1 esterase inhibitor or elevated levels of dysfunctional C1 esterase inhibitor. C4 levels are low between attacks. IgE levels, eosinophils, skin prick tests and RASTs are helpful in other allergic conditions and asthma but not of use in this case.

Meconium ileus equivalent (MIE) can be defined as a clinical manifestation in cystic fibrosis (CF) patients caused by acute intestinal obstruction by putty-like faecal material in the cecum or terminal ileum. A broader definition includes a more chronic condition in CF patients with abdominal pain and a coecal mass which may eventually pass spontaneously. The condition occurs only in CF patients with exocrine pancreatic insufficiency (EPI). It has not been seen in other CF patients nor in non-CF patients with EPI. The frequency of these symptoms has been reported as 2.4%-25%.

The treatment should primarily be non-operative. Specific treatment with N-acetylcysteine, administrated orally and/or as an enema is recommended. Enemas with the water soluble contrast medium, meglucamine diatrizoate (Gastrografin), provide an alternative form for treatment and can also serve diagnostic purposes. It is important that the physician is familiar with this disease entity and the appropriate treatment with the above mentioned drugs. Non-operative treatment is often effective, and dangerous complications following surgery can thus be avoided.

Given that the patient has had large amount, high volume watery diarrhoea in an acute period of time, from the answer choices given, this narrows the diagnosis down to VIPoma or carcinoid syndrome. You would expect with carcinoid syndrome for there to be periodic episodes of diarrhoea, though, with a description of flushing, additionally, associated with these episodes. Thus, VIPoma is the most likely answer here. VIPomas are known to cause hypokalaemia from this large amount of watery diarrhoea. Stool volume should be > 700 ml/day.

During pregnancy, profound changes in thyroid physiology occur to provide sufficient thyroid hormone (TH) to both the mother and foetus. This is particularly important during early pregnancy because the fetal thyroid starts to produce considerable amounts of TH only from approximately 20 weeks of gestation, until which time the foetus heavily depends on the maternal supply of TH. This supply of TH to the foetus, as well as increased concentrations of TH binding proteins (thyroxine-binding globulin) and degradation of TH by placental type 3 iodothyronine deiodinase, necessitate an increased production of maternal TH. This requires an intact thyroid gland and adequate availability of dietary iodine and is in part mediated by the pregnancy hormone human chorionic gonadotropin, which is a weak agonist of the thyroid-stimulating hormone (TSH) receptor. As a consequence, serum-free thyroxine (FT4) concentrations increase and TSH concentrations decrease from approximately the eighth week throughout the first half of pregnancy, resulting in different reference intervals for TSH and FT4 compared to the non-pregnant state.

Streptococcus pneumonia is the chief causative organism for lobar pneumonia in this age group patients. Typically patients present with rusty coloured sputum and a cough. Pneumocystis jiroveci is responsible for causing pneumocystis pneumonia among immunocompromised patients.

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.