Lancet neurology
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The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome. ⋯ Yet there is enough evidence so far to suggest possible approaches to therapy for these two diseases that could go beyond attempting to address specific signs and symptoms (of which there are many) and instead target the pathophysiology underlying MECP2 disorders. Further work could bring antisense oligonucleotides, deep brain stimulation, and gene therapy into the clinic within the next decade or so.
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People with type 2 diabetes are at an increased risk of cognitive impairment and dementia (including Alzheimer's disease), as well as subtle forms of cognitive dysfunction. Current diabetes guidelines recommend screening for cognitive impairment in groups at high risk and providing guidance for diabetes management in patients with diabetes and cognitive impairment. ⋯ Over the past years, research on dementia, brain ageing, diabetes, and vascular disease has identified novel biomarkers of specific dementia aetiologies, brain parenchymal injury, and cerebral blood flow and metabolism. These markers shed light on the processes underlying diabetes-associated cognitive dysfunction, have clear applications in current research and increasingly in clinical diagnosis, and might ultimately guide targeted treatment.
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Chronic neurological diseases are the leading cause of disability globally. Yet, our health-care systems are not designed to meet the needs of many patients with chronic neurological conditions. Care is fragmented with poor interdisciplinary collaboration and lack of timely access to services and therapies. ⋯ Treatment plans tend to focus on the disease rather than the individual living with it, and patients are often not involved in clinical decision making. By use of Parkinson's disease as a model condition, we show an integrated care concept with a patient-centred perspective that includes evidence-based solutions to improve health-care delivery for people with chronic neurological conditions. We anticipate that this integrated care model will improve the quality of life for patients, create a positive working environment for health-care professionals, and be affordable.
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Review
Brain injury after cardiac arrest: from prognostication of comatose patients to rehabilitation.
More patients are surviving cardiac arrest than ever before; however, the burden now lies with estimating neurological prognoses in a large number of patients who were initially comatose, in whom the ultimate outcome is unclear. Neurologists, neurointensivists, and clinical neurophysiologists must accurately balance the concern that overly conservative prognostication could leave patients in a severely disabled state, with the possibility that inaccurately pessimistic prognostication could lead to the withdrawal of life-sustaining treatment in patients who might otherwise have a good functional outcome. ⋯ Cognitive impairments, emotional problems, and fatigue are common among patients who have survived cardiac arrest, and often go unrecognised despite being related to caregiver burden and a decreased participation in society. Through simple screening, these problems can be identified, and patients can be provided with adequate information and rehabilitation.
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Acute stroke management has been revolutionised by evidence of the effectiveness of thrombectomy. Because time is brain in stroke care, the speed with which a patient with large vessel occlusion is transferred to a thrombectomy-capable centre determines outcome. Therefore, each link in the stroke rescue chain, starting with symptom onset and ending with recanalisation, should be streamlined. ⋯ Furthermore, thrombectomy is offered by only a few, usually distant, specialised centres and not by the many other, usually nearer, hospitals. To take maximum advantage of the first so-called golden hours after stroke, and because of the difficulty of on-scene triage decision making with respect to the target hospital offering the required level of care, the focus of stroke research has shifted to the prehospital setting. Current research focuses on the effects of public education, implementation of protocols for emergency medical services for streamlining clinical investigations and accurate triage, use of preclinical scales for stroke recognition, and deployment of novel technical solutions such as smartphone applications, telemedicine, and mobile stroke units.