Postgraduate medical journal
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Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle muscular dystrophies (LGMD) represent a significant proportion of paediatric and adult neuromuscular neurology practice. The proactive symptom-based multidisciplinary team (MDT) management and access to non-invasive ventilation have enabled improved survival into adulthood. Nevertheless the severe disability imposed by conditions such as DMD poses a challenge for successful transition of care and management for paediatric and adult neurology teams. ⋯ LGMDs are much rarer than DMD and BMD, and in addition there is a significant genetic and clinical heterogeneity, which leads to diagnostic difficulties. The clinical and laboratory diagnostic features of seven LGMD subtypes are summarised, and their allelic "non-limb girdle" phenotypes are tabulated to illustrate the theme of one gene causing multiple clinical phenotypes, with the aim of refining the clinician's diagnostic approach. The lessons learnt from DMD MDT management to improve survival are broadly applicable to LGMDs with severe motor disability/multisystem complications.
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In 2002, the Accreditation Council for Graduate Medical Education (ACGME) introduced a new requirement: residents must demonstrate competency in Practice-Based Learning and Improvement (PBLI). Training in this domain is still not consistently integrated into programmes, with few, if any, adequately going beyond knowledge of basic content and addressing all components of the requirement. ⋯ A PBLI curriculum that is centred around practice-based quality improvement projects can fulfil the objectives of this ACGME competency while accomplishing sustained outcomes in quality improvement. A comprehensive curriculum is an investment but offers organisational rewards. We propose a more realistic and informative representation of rapid PDSA cycle changes.
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The internet has transformed many spheres of society. Most notably the advent of social networking websites, such as MySpace, Bebo and Facebook, have attracted many millions of users worldwide. There are over 350 such sites in operation across the internet. There is a paucity of data in the adult literature examining the medical usage of this interesting facet of modern life. ⋯ Facebook is providing a readily accessible portal for patients, carers and healthcare professionals to share their experiences of investigation, diagnosis and management of disease. Furthermore, this technology is being used for research, education and fundraising. Further research is warranted to explore the further potential of this new technology.
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This study describes, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. A staging based on clinical characteristics is proposed, and the relevance of this condition to current understanding of age-related macular degeneration is discussed. ⋯ Raised awareness of L-ORMD should lead to earlier diagnosis and improved care for patients. New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder.