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OBJECTIVES To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation. METHODS In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in(More)
The m.3243A>G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described,most frequently being Maternally Inherited Diabetes and Deafness (MIDD). The m.3243A>G mutation, can be detected in virtually all tissues, however heteroplasmy differs between samples. Recent reports(More)
In communities of user-generated content, systems for the management of content and/or their contributors are usually accepted without much protest. Not so, however, in the case of Wikipedia, in which the proposal to introduce a system of review for new edits (in order to counter vandalism) led to heated discussions. This debate is analysed, and arguments(More)
English-language Wikipedia is constantly being plagued by vandalistic contributions on a massive scale. In order to fight them its volunteer contributors deploy an array of software tools and autonomous bots. After an analysis of their functioning and the ‘coactivity’ in use between humans and bots, this research ‘discloses’ the moral issues that emerge(More)
Open-content communities that focus on co-creation without requirements for entry have to face the issue of institutional trust in contributors. This research investigates the various ways in which these communities manage this issue. It is shown that communities of open-source software—continue to—rely mainly on hierarchy (reserving write-access for higher(More)
BACKGROUND Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with(More)
In order to fight massive vandalism the English-language Wikipedia has developed a system of surveillance which is carried out by humans and bots, supported by various tools. Central to the selection of edits for inspection is the process of using filters or profiles. Can this profiling be justified? On the basis of a careful reading of Frederick Schauer’s(More)
The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA(More)