Arrhythmogenic Cardiomyopathy (ACM), also known as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare hereditary disease of the heart, where the connective, and fatty tissue is deposited in the muscle tissue of the ventricular myocardium primarily of the right but also left …

Background: Joint bleeds are the hallmark of hemophilia, leading to a painful arthritic condition called as hemophilic arthropathy (HA). Exercise programs are frequently used to improve the physical functioning in persons with HA. As hemophilia is a rare disease, there are not many physiotherapists who …

An example for the development of a potential Minimum Data Set (MDS) within the Urban Vitality (UV) themes ‘Gezond ouder worden / Mensen in Beweging’. The goal is to ensure more uniform collection of outcome measures, based on FAIR principles (ref 1), and to facilitate reuse of data and analyses spanning …

Dry eye disease (DED), and especially work-related dry eye, has an increasing incidence, and is expected to become a significant public health problem, with the increasing age until retirement, and the effect of the modern, digital, working environment causing higher visual demands. The indoor environment …

Since Factor H is the main regulator of the complement system, any dysregulation may result in either uncontrolled complement activation or inhibition. Auto-antibodies against Factor H inhibit the protective function of Factor H on host cells, which are now sensitive for complement activation. It is …

There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many …