British medical bulletin
-
British medical bulletin · Jan 2013
New strategies for the restoration of hearing loss: challenges and opportunities.
For most types of hearing impairments, a definitive therapy would rest on the ability to restore hair cells and the spiral ganglion neurons. The only established technique to treat deafness is based on the functional replacement of hair cells with a cochlear implant, but this still has important limitations. ⋯ In this chapter, I discuss the latest advances in the field and how they are being translated into a clinical application.
-
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.
-
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.
-
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.
-
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.