69 research outputs found

    Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation

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    Pneumocephalus:a rare and life-threatening, but reversible, complication after penetrating lumbar injury

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    Pneumocephalus, the presence of intracranial air, is a complication especially seen after neurotrauma or brain surgery. When it leads to a pressure gradient, a so-called tension pneumocephalus, it may require emergency surgery. Clinical symptomatology, especially in young children, does not differentiate between a pneumocephalus and a tension pneumocephalus. An additional CT scan is therefore warranted. Here, we report on a rare case of pneumocephalus after penetrating lumbar injury. Additionally, the pathophysiology of pneumocephalus, as well as its recommendations for diagnosis and treatment, will be elucidated.</p

    Psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

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    This workshop aimed to develop recommendations for psychological interventions to support people living with slowly progressive neuromuscular disorders (NMD). The workshop comprised clinicians, researchers, people living with NMD and their relatives. First, participants considered the key psychological challenges presented by NMD and the impact of NMD on relationships and mental health. Later, several psychological approaches for enhancing well-being in NMD were described. The results of randomised controlled trials of Cognitive Behaviour Therapy and Acceptance and Commitment Therapy for improving fatigue, quality of life, and mood in adults with NMD were examined. Then the group considered ways to adapt therapies for cognitive impairments or neurodevelopmental differences that occur in some NMD, alongside ways to support children and adolescents with NMD and their family members. Based on the evidence from randomised controlled trials, carefully conducted observational studies, and the coherence of these data with the experience of those living with NMD, the group recommends that psychological interventions should be embedded in the routine clinical care offered to people living with NMD

    Vagus Nerve Stimulation in children: A focus on intellectual disability

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    Vagus Nerve Stimulation (VNS) can be an efficacious add-on treatment in patients with drug-resistant epilepsy, who are not eligible for surgery. Evidence of VNS efficacy in children with intellectual disability (ID) is scarce.publisher: Elsevier articletitle: Vagus Nerve Stimulation in children: A focus on intellectual disability journaltitle: European Journal of Paediatric Neurology articlelink: http://dx.doi.org/10.1016/j.ejpn.2017.01.011 content_type: article copyright: © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.status: publishe

    Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder:A case report using eye tracking assessment

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    INTRODUCTION: Despite the increased prevalence of comorbid attention deficit hyperactivity disorder (ADHD) in children with myotonic dystrophy type 1, the effects of methylphenidate treatment on associated cognitive deficits in this population is not yet investigated. CASE: We describe a case study of an eleven-year-old male patient with myotonic dystrophy type 1 and comorbid ADHD that was treated with methylphenidate in a twice daily regime (0.60 mg/kg/day). Positive effects on learning and cognition were reported by the parents and teachers. No negative side effects were reported. Sequential neuropsychological assessments before and 45 minutes after methylphenidate intake were conducted to quantify the cognitive effects of methylphenidate treatment. Significant improvements in regulation of attention were behaviorally observed and were quantified using eye tracking technology. CONCLUSION: We conclude that methylphenidate may be an effective treatment for ADHD-related cognitive deficits and learning difficulties in children with myotonic dystrophy type 1 which merits further research

    Vagus nerve stimulation lead removal or replacement: surgical technique, institutional experience, and literature overview

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    With the growing use of vagus nerve stimulation (VNS) as a treatment for refractory epilepsy, there is a growing demand for complete removal or replacement of the VNS system. We evaluate the safety and efficacy of complete removal or replacement of the VNS system and provide an extensive description of our surgical technique. We retrospectively reviewed our patient registry for all VNS surgeries performed between January 2007 (the year of our first complete removal) and May 2014. In order to assess patient satisfaction, a written questionnaire was sent to patients or their caregivers. Additionally, we reviewed all literature on this topic. The VNS system was completely removed in 22 patients and completely replaced in 13 patients. There were no incomplete removals. Revision surgery was complicated by a small laceration of the jugular vein in two patients and by vocal cord paralysis in one patient. Seizure frequency was unaltered or improved after revision surgery. Electrode-related side effects all improved after revision surgery. Twenty-one studies reported a total of 131 patients in whom the VNS system was completely removed. In 95 patients, the system was subsequently replaced. The most frequently reported side effect was vocal cord paresis, which occurred in four patients. Complete removal or replacement of the VNS system including lead and coils is feasible and safe. Although initial results seem promising, further research and longer follow-up are needed to assess whether lead replacement may affect VNS effectiveness
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