E patient

Reference: Thomas Bertrand1 Abstract: Health is today the number 1 use of Internet. E patients are health consumers who use the internet to gather, share, produce information about a medical condition of particular interest to them. Health social networks are becoming an important entity of influence in the medicine of the future, as they are … Read more

Family outcomes

Reference: Danijela Vlajic Abstract: The European Project for Rare Diseases National Plans Development (EUROPLAN) has addressed one unanswered question to date: モwhat is the scope of patient-driven research?ヤ Identification of needs and priorities for translational and social research, modes of fostering them and promotion of interdisciplinary cooperative approaches has been largely recommended. Beside the success … Read more

Subclinical myocardial dysfunction in Rett syndrome

Reference: Abstract: Aims Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations. RTT is associated with a 300-fold increased risk of sudden cardiac death. Rhythm abnormalities and cardiac dysautonomia do not to fully account for cardiac mortality. Conversely, heart function in RTT has not been explored to … Read more

The Hanefeld variant and Gene CDLK5

Reference: Abstract: Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ᅠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ᅠThis … Read more

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close