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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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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Subclinical thyroid disease is a common finding on testing of thyroid function and its management remains controversial. ⋯ A randomized controlled trial to identify those subjects identified from screening programmes that benefit from intervention in terms of morbidity and mortality.
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Osteoarthritis (OA) is a degenerative joint disease involving the cartilage and many of its surrounding tissues. Disease progression is usually slow but can ultimately lead to joint failure with pain and disability. OA of the hips and knees tends to cause the greatest burden to the population as pain and stiffness in these large weight-bearing joints often leads to significant disability requiring surgical intervention. ⋯ Further research is required to fully understand how OA affects an individual physically and psychologically, and to determine their healthcare need.
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Barrett's oesophagus (BO) is a common premalignant condition, which carries a risk of progression to oesophageal adenocarcinoma. Recent advances include quantifying the risk of neoplasia progression, novel diagnostic tools and development of new endoscopic techniques to treat early Barrett's cancer. ⋯ The development of non-endoscopic diagnostic tools and radical endotherapy to treat early cancer strengthens the argument for surveillance and suggests the possibility of screening in the near future. Identification of a biomarker may help to select high-risk patients.