Journal of the Royal Society of Medicine
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Medical schools need to ensure that graduates feel well prepared for their first medical job. Our objective was to report on differences in junior doctors' self-reported preparedness for work according to gender, ethnicity and graduate status. ⋯ The identified gender and ethnic differences need to be further explored to determine whether they are due to differences in self-confidence or in actual preparedness.
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Motor neurone disease (MND), the commonest clinical presentation of which is amyotrophic lateral sclerosis (ALS), is regarded as the most devastating of adult-onset neurodegenerative disorders. The last decade has seen major improvements in patient care, but also rapid scientific advances, so that rational therapies based on key pathogenic mechanisms now seem plausible. ALS is strikingly heterogeneous in both its presentation, with an average one-year delay from first symptoms to diagnosis, and subsequent rate of clinical progression. ⋯ The most common mutation, accounting for 10% of all Western hemisphere ALS, is a hexanucleotide repeat expansion in C9orf72. This and several other genes implicate altered RNA processing and protein degradation pathways in the core of ALS pathogenesis. A major gap remains in understanding how such fundamental processes appear to function without obvious deficit in the decades prior to symptom emergence, and the study of pre-symptomatic gene carriers is an important new initiative.
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Case Reports
Sarcoidosis presenting as complete heart block in a 45-year-old farmer: an aetiology not to miss.
Sarcoidosis should always be part of the differential diagnosis when faced with a young patient with significant cardiac conduction disease.