Congenital mutation of α3 integrin – a new reason of a failure of the lung, kidney and epidermolysis bullosa

A group of the scientists from Switzerland, Germany and Israel have described the cases of three infants with similar symptoms. After genetic analysis of a samples harvested from the young patients, a mutation of α3 integrin was found. Read full text »

Rett syndrome – a case of a „silent angel”

Although the first case report about Rett’s syndrome comes from 1961, it did not gain ground until 2000, when Barry Rinehart made a documentary movie about girls suffering from this disorder, entitled “Silent Angels. The Rett Syndrome Story”, featuring Julia Roberts as a narrator. Rett syndrome is a pervasive developmental disorder, occurring primarily in girls population, connected with mutation in MECP2 gene, which is situated on X chromosome2. It leads to developmental regression and loss of previously acquired skills. Causal treatment is still not known. Read full text »