An aspergilloma is a fungus ball (mycetoma) that develops in a pre-existing cavity in the lung parenchyma. Underlying causes of the cavitary disease may include treated tuberculosis or other necrotizing infection, sarcoidosis, cystic fibrosis, and emphysematous bullae. The ball of fungus may move within the cavity but does not invade the cavity wall. Aspergilloma may manifest as an asymptomatic radiographic abnormality in a patient with pre-existing cavitary lung disease due to sarcoidosis, tuberculosis, or other necrotizing pulmonary processes. In patients with HIV disease, aspergilloma may occur in cystic areas resulting from prior Pneumocystis jiroveci pneumonia. Of patients with aspergilloma, 40-60% experience haemoptysis, which may be massive and life threatening. Less commonly, aspergilloma may cause cough and fever.

The diagnosis is Refsum’s disease. This is an autosomal recessive disorder that causes a sensorimotor peripheral neuropathy. It is caused by defective alpha oxidation of phytanic acid leading to its accumulation in tissues. Cardiac conduction abnormalities and cardiomyopathies may also occur.
Epiphyseal dysplasia causes a characteristic shortening of the fourth toe. Serum phytanic acid levels are elevated. Treatment is by dietary restriction of foods containing phytanic acid (dairy products, fish, beef and lamb).

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.

Huntington’s disease is an autosomal inherited condition characterized by progressive dementia and worsening choreiform movements. Symptoms typically appear between ages 30 and 50. Ultimately the weakened individual succumbs to pneumonia, heart failure, or other complications.

Tumour marker CA 15-3 is mostly associated with breast cancer.

Tumour markers can be divided into:
1. Monoclonal antibodies
CA 125: Ovarian cancer, primary peritoneal cancer
CA 19-9: Pancreatic cancer
CA 15-3: Breast cancer

2. Tumour specific antigens
Prostate specific antigen (PSA): Prostatic carcinoma
Alpha-feto protein (AFP): Hepatocellular carcinoma, teratoma
Carcinoembryonic antigen (CEA): Colorectal cancer
S-100: Melanoma, schwannomas
Bombesin: Small cell lung carcinoma, gastric cancer

3. Enzymes
Alkaline phosphatase (ALP)
Neuron specific enolase (NSE)

4. Hormones
Calcitonin
Antidiuretic hormone (ADH)
Human chorionic gonadotropin (hCG)

The wedged hepatic venous pressure is a reflection of the portal venous pressure in the hepatic sinusoids. This is a fact to remember. Here is a great but concise explanation as to why: https://www.ncbi.nlm.nih.gov/pubmed/18695309

Ethanol reduces the calcium-dependent secretion of anti-diuretic hormone (ADH) by blocking channels in the neurohypophyseal nerve terminal.
Thus, ethanol’s inhibitory effect helps to explain the increased diuresis experienced during intoxicated states as well as increased free water loss; without appropriate ADH secretion, more water is excreted by the kidneys.

Nausea associated with hangovers is mainly due to vagal stimulation to the vomiting centre.
Following a particularly severe episode of alcohol excess, people may experience tremors due to increased glutamate production by neurons to compensate for the previous inhibition by ethanol.

Management of alcoholism:
Nutritional support:
– Alcoholic patients should receive oral thiamine if their ‘diet may be deficient’.
Pharmacological management:
– Benzodiazepines for acute withdrawal
– Disulfiram promotes abstinence – alcohol intake causes a severe reaction due to inhibition of acetaldehyde dehydrogenase. Patients should be aware that even small amounts of alcohol (e.g. In perfumes, foods, mouthwashes) can produce severe symptoms. Contraindications include ischaemic heart disease and psychosis.
– Acamprosate reduces craving, known to be a weak antagonist of NMDA receptors, improves abstinence in placebo-controlled trials.

Primary amyloidosis is characterised by abnormal protein build-up in the tissues and organ such as the heart, liver, spleen, kidneys, skin, ligaments, and nerves. However, the most common cause of death in patients with primary amyloidosis is heart failure.

Again, remember the Hepatitis B serologies: In chronic hepatitis B infection, you have +HBsAg, +anti-HBc, (-)IgM antiHBc, and (-) anti-HBs. In acute hepatitis B infection, you have +HBsAg, + anti-HBc, + IgM anti-HBc, and negative anti-HBs. In immunity due to natural infection, you have negative HBsAg, + anti-HBc, and + anti-HBs. In immunity due to vaccination, you have negative HBsAg, negative anti-HBc, and positive anti-HBs. IN THIS CASE, the person is HBsAg+ for 6 months and everything else is negative, normal transaminase. They do not need antiviral therapy, but their serology should be monitored serially. There would be no reason to do a liver biopsy.