British medical bulletin
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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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The public assumes that if euthanasia and assisted suicide were to be legalized they would be carried out by physicians. ⋯ The impact of characterizing euthanasia as 'medical treatment' on physicians' professional identity and on the institutions of medicine and law should be examined in jurisdictions where assisted suicide and euthanasia have been de-criminalized.
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British medical bulletin · Jan 2013
ReviewUpdate on the long-term complications of renal transplantation.
Powerful immunosuppressive regimens have reduced rejection risk, leading to an expanding cohort of long-term kidney transplant recipients who are likely to encounter practitioners in other specialties. ⋯ Markers to guide individualized optimal immunosuppression and predict the development of complications would allow for targeted early intervention.
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British medical bulletin · Jan 2013
ReviewThe neuroinflammatory response of postoperative cognitive decline.
Aseptic surgical trauma provokes a homeostatic neuroinflammatory response to promote healing and protect the organism from further injury. When this response is dysregulated, harmful consequences can follow, including postoperative cognitive decline. ⋯ The mechanisms that lead to exaggerated and persistent neuroinflammation and the best way to counteract it are still unknown. AREAS FOR DEVELOPING RESEARCH: It is imperative that we identify the underlying processes that increase the risk of cognitive decline in elderly surgical patients. In this review we explore non-resolution of inflammation as an underlying cause of developing exaggerated and persistent POCD. If interventions can be developed to promote resolution of neuroinflammation, the patient's postoperative recovery will be enhanced and long-term consequences can be prevented.
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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.