British medical bulletin
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In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. ⋯ Although still in the early stages, the development of in vitro genetic manipulation could see an end to the inheritance of the most severe mtDNA disease.
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British medical bulletin · Jan 2013
ReviewUnderstanding the genetic aetiology in patients with XY DSD.
Disorders of sex development (DSD) consist of a wide range of disorders and are commoner in those with an XY karyotype. In over half of these cases who have a 46,XY karyotype and who are raised as boys, the underlying aetiology remains unclear. ⋯ There is a need to understand and improve the clinical utility of genetic analysis in the clinical setting of the patient with a suspected DSD. This will be even more important when parallel gene sequencing identifies variations in multiple genes.
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British medical bulletin · Jan 2013
ReviewThe angiogenic properties of mesenchymal stem/stromal cells and their therapeutic potential.
Blood vessel formation is fundamental to development, while its dysregulation can contribute to serious disease. Expectations are that hundreds of millions of individuals will benefit from therapeutic developments in vascular biology. MSCs are central to the three main vascular repair mechanisms. ⋯ Characterization of MSCs' in vivo origins and biological properties in relation to their localization within tissue niches, reprogramming strategies and newer imaging/bioengineering approaches.
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British medical bulletin · Jan 2013
Regulation and safe adoption of new medical devices and procedures.
Recent problems with medical devices have highlighted the need for improved surveillance. New procedures are largely unregulated. ⋯ How to accrue more and better evidence about devices and procedures through clinical trials and various avenues of observational data collection.
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While social media interactions are currently not fully understood, as individual health behaviors and outcomes are shared online, social media offers an increasingly clear picture of the dynamics of these processes. ⋯ Further work is needed on social media as a valid data source for detecting or predicting diseases or conditions. Also, whether or not it is an effective tool for communicating key public health messages and engaging both, the general public and policy-makers.