News

A look into…Graves’ Disease

Graves’ disease is an autoimmune disease of the thyroid gland, in which helper T cells autoreactive against the thyrotropin receptor activate B cells to produce anti-thyrotropin receptor antibodies. When antibodies with an activating effect on the receptor prevail, production of thyroid hormones is increased in an uncontrolled manner, and thyroid…

A look into…Mild Cognitive Impairment

Mild cognitive impairment (MCI) is a condition in which a person has problems with memory, language, executive function and visuospatial skills that are noticeable to others and can be observed in neuropsychological tests, but do not interfere with everyday activities. People with MCI often develop Alzheimer’s disease (AD). Factors contributing…

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…