Clinical medicine (London, England)
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Cardiovascular disease (CVD) remains one of the commonest sources of morbidity and mortality in the world. Lipids and especially low density lipoprotein cholesterol (LDL-C) contribute to the risk of CVD events. Statins are the primary therapy for hypercholesterolaemia and recent evidence supports the use of ezetimibe as a second-line agent. ⋯ Activating mutations in PCSK9 give rise to a form of familial hypercholesterolaemia, while inactivating mutations lead to lower LDL-C levels and fewer CVD events. Therapies to inhibit PCSK9 are in development and two antibody-based therapies - alirocumab and evolocumab - have recently been licensed. This article reviews the actions of PCSK9, the novel therapeutics targeted on this molecule and how they are likely to be used in clinical practice until large scale CVD outcome studies with PCSK9 inhibitors are published.
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Parkinson's disease (PD) was first described by James Parkinson in 1817. He noted the complex nature of this condition and that non-motor symptoms (NMS) underpinned the classic motor symptoms of PD. The concept of what PD is has therefore undergone substantial changes and it is now recognised that PD is a combined motor and non-motor syndrome and NMS are present during the prodromal phase of PD, starting up to 20 years before the first clinical motor signs emerge. ⋯ Complex phenotypes of PD may exist where clinical NMS overshadow motor features. Therapy needs to be adjusted based on motor and non-motor loads, ideally using validated tools. Recently, a multimodal biomarker battery in PD has emerged and might play an important role in the future.
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Movement disorders comprise hyperkinetic involuntary movements (eg tremor, myoclonus, tics, dystonia and chorea) and hypokinetic (parkinsonism) disorders. Tics are cardinal features of primary tic disorders encompassing Tourette syndrome (TS), but are also found in some neurodegenerative conditions and may be induced by psychoactive substances. ⋯ Dystonia and chorea syndromes are considerably heterogeneous in aetiology, and age at onset, body distribution of the movement disorder, accompanying neurological motor and non-motor features, and systemic manifestations are all important to reach a correct aetiological diagnosis. While symptomatic pharmacological treatment remains the mainstay of treatment for choreas, deep brain stimulation surgery has a well-defined place in the management of medically refractory dystonia.
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Genomics education in the UK is at an early stage of development, and its pace of evolution has lagged behind that of the genomics research upon which it is based. As a result, knowledge of genomics and its applications remains limited among non-specialist clinicians. In this review article, we describe the complex landscape for genomics education within the UK, and highlight the large number and variety of organisations that can influence, direct and provide genomics training to medical professionals. ⋯ The success of their work will be greatly enhanced by the full cooperation and engagement of the many groups, societies and organisations involved with medical education and training (such as the royal colleges). Without this cooperation, there is a risk of poor coordination and unnecessary duplication of work. Leadership from an organisation such as the HEE Genomics Education Programme will have a key role in guiding the formulation and delivery of genomics education policy by various stakeholders among the different disciplines in medicine.
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Having benign paroxysmal positional vertigo (BPPV) puts patients at a significantly higher risk of falling. It is poorly recognised and diagnosis is frequently delayed. BPPV has been studied in outpatient settings, but there have been no studies looking at the prevalence in patients admitted with falls. ⋯ Of the patients included in the study, over half tested positive for BPPV. This merits further study. Potentially, there is a proportion of patients admitted with falls who have an easily treatable contributing factor that is not being identified with standard practice.