British medical bulletin
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Diagnosis of systemic amyloidosis remains challenging. Histology, the current gold standard for diagnosis of amyloidosis provides limited information on the extent of the disease and is not useful for monitoring. Non-invasive imaging modalities offer an easy way to evaluate whole-body amyloid burden, accurately identify organ involvement, quantify and monitor disease progression and response to treatment. ⋯ Specificity of each of the imaging modalities limits the utility of any one imaging method for all types of amyloidosis for all organs. GROWING POINTS AND FURTHER RESEARCH: 99mTc-DPD has a high sensitivity and specificity to cardiac transthyretin amyloid deposits and its role in early diagnosis of this condition is under investigation. Further studies are needed with ¹²³I-mIBG to assess its utility in patients with early cardiac autonomic neuropathy. Positron emission tomography with tracers used for Alzheimer's disease imaging is an area of increasing interest in systemic amyloid imaging.
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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
ReviewHealth of China's rural-urban migrants and their families: a review of literature from 2000 to 2012.
Socioeconomic transformation in China at the beginning of the twenty-first century has led to rapid urbanization and accelerated rural-urban migration. As a result, the concerns about public health problems triggered by increasing internal population mobility have been more widely studied in recent years. ⋯ Social, economic, emotional, environmental and behavioural risk factors that impact on health of migrants and their families call for more attention from health policy-makers and researchers in contemporary China.
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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
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.