News

A look into…Cystinosis

Cystinosis is a rare inherited lysosomal storage disorder following the Mendelian inheritance pattern. It is caused by mutations in the CTNS gene that encodes cystinosin, a lysosomal cystine‑proton co-transporter with various functions. This results in an abnormal accumulation of the amino acid cystine within the lysosomes of all body cells…

A look into…Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatosis is a rare autosomal recessive lipid storage disease following the Mendelian inheritance pattern. It is caused by mutations in a gene encoding a cytochrome P450 oxidase predominantly involved in the biosynthesis of bile acids from cholesterol. The lack of the functional enzyme results in a reduced production of…

A look into…Hepatitis B

Infection with the hepatitis B virus (HBV) is a major problem throughout the world. Over 240 million people are estimated to be HBV surface antigen(sAg)-positive, with up to 25% of individuals with chronic HBV infection dying from cirrhosis or hepatocellular carcinoma (HCC). HBV is transmitted via blood (in medical, occupational…

A look into…Onychomycosis

Onychomycosis refers to a fungal infection of the nail which can occur on the hands or feet, but in most western countries more commonly occurs on the toenail. The infection is mostly found in males and can be caused by fungi known as dermatophytes which feed on the nail tissue,…

A look into…Tuberculosis

Tuberculosis (TB) is a chronic bacterial infection caused by variants in Mycobacterium tuberculosis. This bacterium is normally killed by the immune system within most healthy people, but if infection occurs, can lead to a long, prolonged cough, weight loss, high temperature and fatigue. Tuberculosis is a droplet infection and is…