The most likely diagnosis is hypertrophic obstructive cardiomyopathy which is suggestive by the history, positive family history and ECG findings. Two-dimensional echocardiography is diagnostic for hypertrophic cardiomyopathy. In general, a summary of echocardiography findings includes abnormal systolic anterior leaflet motion of the mitral valve, LV hypertrophy, 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, and partial systolic closure of the aortic valve in midsystole.

Alpha1-antitrypsin (AAT) deficiency, first described in 1963, is one of the most common inherited disorders amongst white Caucasians. Its primary manifestation is early-onset of pan acinar emphysema. In adults, alpha1-antitrypsin deficiency leads to chronic liver disease in the fifth decade. As a cause of emphysema, it is seen in non-smokers in the fifth decade of life and during the fourth decade of life in smokers.

Symptoms of alpha1-antitrypsin (AAT) deficiency emphysema are limited to the respiratory system. Dyspnoea is the symptom that eventually dominates alpha1-antitrypsin deficiency. Similar to other forms of emphysema, the dyspnoea of alpha1-antitrypsin deficiency is initially evident only with strenuous exertion. Over several years, it eventually limits even mild activities.
The serum levels of some of the common genotypes are:
•PiMM: 100% (normal)
•PiMS: 80% of normal serum level of A1AT
•PiSS: 60% of normal serum level of A1AT
•PiMZ: 60% of normal serum level of A1AT, mild deficiency
•PiSZ: 40% of normal serum level of A1AT, moderate deficiency
•PiZZ: 10–15% (severe alpha 1-antitrypsin deficiency)

Among the given options, an addiction to opiates is considered the strongest risk factor for committing suicide.

Other options:
Being a female – Being male is one of the most significant risk factors for suicide.
Being married – Having family support is an important protective factor for suicide.
Having five children – Having children at home is thought to be a protective factor.
Having never seen a general practitioner – Having a chronic mental or physical condition is however a risk factor for suicide.

Risk factors of suicide:
There are several factors shown to be associated with an increased risk of suicide:
Male sex
History of deliberate self-harm
Alcohol or drug misuse
History of mental illness (depression, schizophrenia)
History of chronic disease
Advancing age
Unemployment or social isolation/living alone
Being unmarried, divorced or widowed
Previous attempt to commit suicide.

Signs pointing towards suicidal intension:
Efforts to avoid discovery
Planning
Leaving a written note
Final acts such as sorting out finances
Violent method

Protective factors against suicide:
Family support
Having children at home
Religious belief

Colonoscopy screening should begin 10 years after the first diagnosis in ulcerative colitis, given the increased risk for colon cancer. Given that she has developed primary sclerosing cholangitis, her risk of colon cancer is even higher. Colonoscopy screening should occur at 3 year intervals in the second decade, 2 year intervals in the third decade, and 1 year intervals by the first decade, making A the correct answer choice.

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.

The most likely diagnosis is idiopathic Parkinson’s disease because of the unilateral presentation. In addition, cogwheel rigidity is a classic presenting symptom. Neuroleptic-induced parkinsonism is usually bilateral and symmetrical. Essential tremors do not cause rest tremors.

Pulmonary metastasis is seen in 20-54% of extrathoracic malignancies. The lungs are the second most frequent site of metastases from extrathoracic malignancies. Twenty percent of metastatic disease is isolated to the lungs. The development of pulmonary metastases in patients with known malignancies indicates disseminated disease and places the patient in stage IV in TNM (tumour, node, metastasis) staging systems.
Chest radiography (CXR) is the initial imaging modality used in the detection of suspected pulmonary metastasis in patients with known malignancies. Chest CT scanning without contrast is more sensitive than CXR.
Breast, colorectal, lung, kidney, head and neck, and uterus cancers are the most common primary tumours with lung metastasis at autopsy. Choriocarcinoma, osteosarcoma, testicular tumours, malignant melanoma, Ewing sarcoma, and thyroid cancer frequently metastasize to lung, but the frequency of these tumours is low.

History and CXR are suggestive of tuberculosis. Acid fast bacilli should be seen on microscopy to confirm the diagnosis.

The Hyperlipidaemia Effect: Pseudohyponatremia in Pancreatic Cancer; Patients who have disorders of cholestasis commonly present with volume depletion due to vomiting and poor oral intake, which, in turn, often leads to hypovolemic hyponatremia. It is less well known that disorders of cholestasis, including tumours of the hepatobiliary system, can be accompanied by hyperlipidaemia.

The diagnosis of polycystic ovarian syndrome (PCOS) is based on hyperandrogenism or chronic anovulation in the absence of specific pituitary and/or adrenal disease.
Pelvic ultrasonography may be very helpful in the evaluation as well, but polycystic ovaries are not specific for PCOS with over 20% of “normal” women having this finding. The number of follicles and ovary volume are both important in the ultrasound evaluation. The criteria for PCOS put forth by Adams et al. are the most often cited: the presence of ≥10 cysts measuring 2–8 mm around a dense core of stroma or scattered within an increased amount of stroma.
A recent proposal to modify these criteria has been put forth by Jonard et al.: “increased ovarian area (>5.5cm2) or volume (>11 mL) and/or presence of ≥12 follicles measuring 2 to 9 mm in diameter (mean of both ovaries)”.
These criteria have a specificity of 99% and a sensitivity of 75% for the diagnosis of PCOS.

The Smooth endoplasmic reticulum (ER) is the major site at which membrane lipids are synthesized in eukaryotic cells. Because they are extremely hydrophobic, lipids are synthesized in association with already existing cellular membranes rather than in the aqueous environment of the cytosol. Although some lipids are synthesized in association with other membranes, most are synthesized in the ER. They are then transported from the ER to their ultimate destinations either in vesicles or by carrier proteins.

Haemophilia is a X-linked recessive disorder. In X-linked recessive inheritance only males are affected. An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome. X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.

MRA is next appropriate management for this case. It is non-invasive and has been shown to correlate with angiographic appearance. Although Renal arteriography is considered gold standard, it is invasive, so a non-invasive option is preferred as first line of investigation in this case.

You may treat chickenpox with acyclovir if it is commenced within the first 24 hours of the rash’s appearance. Erythromycin, doxycycline, and ampicillin would not help because it’s a viral infection (Varicella) not a bacterial infection.

Atrioventricular septal defect (AVSD) also known as endocardial cushion defect is the most common cardiac abnormality in Down’s Syndrome.

Spironolactone is an aldosterone antagonist diuretic that is well-known to cause gynaecomastia because it increases testosterone clearance and oestradiol production. The patient’s primary complaint of gynaecomastia should immediately prompt discontinuation of spironolactone and replacement with Eplerenone, which lacks the antiandrogenic effects, and thus there is less risk of gynaecomastia.

Gram-staining of the blood cultures of this patient will show gram-positive cocci. Gram-negative bacilli used to be the most common pathogen isolated in neutropenic sepsis, but currently, the most common pathogens are gram-positive organisms. Staphylococcus epidermidis is the most frequent causative agent, and following this are other staphylococci and streptococci species.

Neutropenic sepsis is a relatively common complication of cancer therapy—usually chemotherapy. It most commonly occurs 7-14 days after the treatment and is usually defined as a neutrophil count of <0.5 x 10^9/L in a patient undergoing anticancer treatment and who has either a temperature higher than 38°C or has other features consistent with clinically significant sepsis. Management approach includes starting empirical antibiotic therapy (piperacillin with tazobactam—Tazocin) immediately. Following this initial treatment, the patient is usually assessed by a specialist and risk-stratified to see if outpatient treatment may be possible. However, if the patient remains febrile and unwell after 48 hours, an alternative antibiotic such as meropenem is often prescribed with or without vancomycin. If patient is still not responding after 4-6 days, then an antifungal, such as amphotericin B, is started after carrying out investigations (e.g. HRCT and Aspergillus PCR) to determine the likelihood of systemic fungal infection.

This is a picture of bone marrow failure secondary to acute myeloid leukaemia (AML). AML is the acute expansion of the myeloid stem line, which may occur as a primary disease or follow the secondary transformation of a myeloproliferative disorder. It is more common over the age of 45 and is characterized by signs and symptoms largely related to bone marrow failure such as anaemia (pallor, lethargy), frequent infections due to neutropenia (although the total leucocyte count may be very high), thrombocytopaenia (bleeding), ostealgia, and splenomegaly.

The disease has poor prognosis if:
1. Age of the patient >60 years
2. >20% blasts seen after the first course of chemotherapy
3. Chromosomal aberration with deletion of part of chromosome 5 or 7.

Acute promyelocytic leukaemia (APL) is an aggressive form of AML.

Other listed options are ruled out because:
1. Von Willebrand disease: may present with epistaxis and bleeding gums in severe cases but rarely with abnormalities on blood results.

2. Acute lymphoblastic leukaemia: mostly seen in children.

3. Lymphoma: usually presents with rubbery enlargement of lymph nodes.

4. Warfarin overdose: no bilobed large mononuclear cells seen on blood film.

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 cardiovascular effects of β-adrenoceptor block result from reduction of the sympathetic drive which includes reduced heart rate (automaticity) and reduced myocardial contractility (rate of rise of pressure in the ventricle). This will lead to reduced cardiac output and an overall fall in oxygen consumption.