关键词： cerebral palsy   contracture   Duchenne muscular dystrophy   muscle   stroke  

摘要： Limb contractures are debilitating complications associated with various muscle and nervous system disorders. This report summarizes presentations at a conference at the Shirley Ryan AbilityLab in Chicago, Illinois, on April 19-20, 2018, involving researchers and physicians from diverse disciplines who convened to discuss current clinical and preclinical understanding of contractures in Duchenne muscular dystrophy, stroke, cerebral palsy, and other conditions. Presenters described changes in muscle architecture, activation, extracellular matrix, satellite cells, and muscle fiber sarcomeric structure that accompany or predispose muscles to contracture. Participants identified ongoing and future research directions that may lead to understanding of the intersecting factors that trigger contractures. These include additional studies of changes in muscle, tendon, joint, and neuronal tissues during contracture development with imaging, molecular, and physiologic approaches. Participants identified the requirement for improved biomarkers and outcome measures to identify patients likely to develop contractures and to accurately measure efficacy of treatments currently available and under development.

关键词： cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)   cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)   cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)   cerebral small-vessel disease   Fabry   mitochondrial encephalopathy   lactic acidosis and stroke-like episodes (MELAS)   monogenic cerebral small-vessel disease   pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL)   retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)   type IV collagen (COL4)A1   2  

摘要： Background and purpose Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), autosomal dominant High Temperature Requirement A Serine Peptidase 1 (HTRA1), cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), Fabry disease, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and type IV collagen (COL4)A1/2. Methods We followed the Delphi methodology to provide recommendations on several unanswered questions related to monogenic cSVD, including genetic testing, clinical and neuroradiological diagnosis, and management. Results We have proposed 'red-flag' features suggestive of a monogenic disease. General principles applying to the management of all cSVDs and specific recommendations for the individual forms of monogenic cSVD were agreed by consensus. Conclusions The results provide a framework for clinicians involved in the diagnosis and management of monogenic cSVD. Further multicentre observational and treatment studies are still needed to increase the level of evidence supporting our recommendations.

摘要： [...]the time from arrival at hospital to ECMO initiation was relatively short in this study. [...]both the 2010 and 2015 AHA guidelines recommended ECPR for Class IIb, and ECPR management in our hospital did not change during the study period [5,6]. [...]we considered that subgroup analysis is not needed to reflect changes in the guidelines. [...]regarding the effectiveness of mechanical CPR, because we did not record if patients received mechanical CPR or not, we could not answer the authors' question.

关键词： Wilson's disease   magnetic resonance imaging   brain   relaxation time   quantitative susceptibility mapping  

摘要： Background In Wilson's disease (WD), demyelination, rarefaction, gliosis, and iron accumulation in the deep gray matter cause opposing effects on T-2-weighted MR signal. However, the degree and interplay of these changes in chronically treated WD patients has not been quantitatively studied. Purpose To compare differences in brain multiparametric mapping between controls and chronically treated WD patients with neurological (neuro-WD) and hepatic (hep-WD) forms to infer the nature of residual WD neuropathology. Study Type Cross-sectional. Population/Subjects Thirty-eight WD patients (28 neuro-WD, 10 hep-WD);26 healthy controls. Field Strength/Sequence 3.0T: susceptibility, T-2*, T-2, T-1 relaxometry;1.5T: T-2, T-1 relaxometry. Assessment The following 3D regions of interest (ROIs) were manually segmented: globus pallidus, putamen, caudate nucleus, and thalamus. Mean bulk magnetic susceptibility, T-2*, T-2, and T-1 relaxation times were calculated for each ROI. Statistical Tests The effect of group (neuro-WD, hep-WD, controls) and age was assessed using a generalized least squares model with different variance for each ROI and quantitative parameter. A general linear hypothesis test with Tukey adjustment was used for post-hoc between-group analysis;P < 0.05 was considered significant. Results Susceptibility values were higher in all ROIs in neuro-WD compared to controls and hep-WD (P < 0.001). In basal ganglia, lower T-2 and T-2* were found in neuro-WD compared to controls (P < 0.01) and hep-WD (P < 0.05) at 3.0T. Much smaller intergroup differences for T-2 in basal ganglia were observed at 1.5T compared to 3.0T. In the thalamus, increased susceptibility in neuro-WD was accompanied by increased T-1 at both field strengths (P < 0.001 to both groups), and an increased T-2 at 1.5T only (P < 0.001 to both groups). Data Conclusion We observed significant residual brain MRI abnormalities in neuro-WD but not in hep-WD patients on chronic anticopper treatment. Patterns of ch

关键词： Fatigue   Multiple Sclerosis   Qualitative   Synthesis   Experience  

摘要： Objectives To identify the experiences that result from MS-related fatigue (MSRF) through a systematic review and thematic synthesis of qualitative literature. Design The thematic synthesis was undertaken in three stages: (1) a systematic review of the literature, searching relevant databases from their inception to March 2016. (2) A critical appraisal of included studies, and (3) a double blind 2-phase synthesis of results was undertaken. Setting Participants were included from articles using primary and secondary care settings. Participants The synthesis included nine articles that incorporated a total of one hundred and fifty two participants (103 females and 49 males) in the review. Results No articles were excluded following critical appraisal. Two major themes were synthesised: (1) biopsychosocial experiences of fatigue, which illustrated the physical, cognitive and social challenges patients experience and (2) experiences that alter the impact of fatigue including the strategies individual employ to help manage fatigue. These major themes were further split into five subthemes. Limitations Only the most common experiences of MSRF were identified. Findings did not break down results by key demographics e.g. disease type. Only English language studies were included. Conclusion Physiotherapists are able to support the management by: (a) having a greater understanding of MSRF and (b) being able to help patients manage the factors that influence it. (C) 2020 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

关键词： Health sciences   Orthopaedics  

摘要： Study design Observational cohort study. Objectives To identify the optimal surgical timing for improving neurological outcomes in patients that sustained a motor-complete traumatic spinal cord injury (TSCI) secondary to a thoracolumbar injury. Setting Level 1 trauma center specialized in TSCI care. Methods We prospectively analyzed clinical data of 35 patients admitted for motor-complete TSCI secondary to a thoracolumbar injury. We quantified neurological recovery with three different outcomes: the improvement of at least one grade on the American Spinal Injury Association Impairment Scale (AIS), of at least one neurological level of injury (NLI), and of at least 10-points on the motor score (MS). Classification and regression tree analysis was used to identify outcome predictors and to provide cutoff values of surgical timing associated with recovery. Results The proportion of the patients improving by at least one AIS grade was higher in the group undergoing early surgery within 25.7 h of the TSCI (46% vs 0%). The proportion of patients that improved by at least one NLI was also higher in the group undergoing early surgery within 21.5 h of the TSCI (71% vs 18%). Lastly, 25% of the AIS grade A patients undergoing early surgery within 25.6 h of the TSCI improved 10 MS points or more as compared with 0% in the other group. Conclusions Earlier surgery was effective in improving neurological outcome in motor-complete TSCI at the thoracolumbar levels. Performing surgery within 21.5 h from the traumatic event in these patients increases the likelihood of improving the neurological recovery. Sponsorship This study was supported by the Fonds de Recherche du Quebec-Sante (FRQS), Department of the Army-United States Army Medical Research Acquisition Activity, Rick Hansen Spinal Cord Injury Registry and Medtronic research chair in spinal trauma at Universite de Montreal.

关键词： Evaluation capacity building   Brain health   Community organization   Ecology of care  

摘要： This paper discusses the Ontario Brain Institute's theory of change for the Evaluation Support Program, a program designed to enhance the role of community organizations in providing care and services for people living with a brain disorder. This is done by helping community organizations build evaluation capacity and foster the use of evidence to inform their activities and services. Helping organizations to build capacities to track the `key ingredients' of their successes will help ensure that successes are replicated and services can be improved to maximize the benefit that people receive from them. This paper describes the hypothesized outcomes and early impacts of the Evaluation Support Program, as well as how the program will contribute to the field of evaluation capacity building.

关键词： Cognitive control   Outcomes research  

关键词： Aging   Early dementia   Awareness   Cognitive reserve  

摘要： Objectives: The main aim of the study was to compare the rates of mortality in older adults with and without functional unawareness (FU). We also tested a possible interaction effect between levels of awareness and education, as a single cognitive reserve proxy, on mortality. Study design: The study design is a longitudinal population-based cohort study. Methods: The Neurological Disorders in Central Spain is epidemiological study to detect main age-associated conditions in people aged 65 years and older. Participants were collected from updated population-based registers of residents in three areas of central Spain. Awareness of functional limitations was established in accordance with the discrepancy between two sources of information on functional impairments: reliable informants versus the participants themselves. Three mutually exclusive groups were formed, namely, Functional Limitation Complaints (FCs), FU, and Functional Awareness (FA). Cox's regression models, adjusted by different covariates, were used to calculate the risk of mortality for each group at 5-year follow-up (vs. reference group without limitations). Results: Of 1818 selected individuals, 229 (12.5%) showed FA, 254 (13.9%) showed FC, and 96 (5%) were classified as FU. All these groups showed an increased risk of mortality at 5-year follow-up [adjusted hazard ratio (HR) for FC < FU < FA]. However, the association of FU with mortality remained significant only for highly educated individuals. Conclusions: Functional impairment was associated with increased mortality rates, regardless of the presence of unawareness. This study extends the role of education in modulating the symptoms and prognosis of individuals at very mild or preclinical dementia stages. (C) 2020 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

关键词： Cyclosporin A   Ischemic postconditioning   Cardiopulmonary resuscitation   Mitochondrial permeability transition pore   Neurological function  

摘要： Background and Objective Attenuation of neuronal apoptosis helps maintain neurological function in patients after cardiac arrest. After ischemia-reperfusion, both cyclosporin A (CsA) and ischemic postconditioning independently protect mitochondria and thus reduce nerve injury. This study employed a rat model to evaluate the neuroprotective effect of combining ischemic postconditioning with CsA after cardiopulmonary resuscitation (CPR). Methods Rats were apportioned equally to model control, postconditioned, CsA-treated, or CsA + postconditioned groups. Asphyxial cardiac arrest was imposed using modified Utstein-style guidelines. In the appropriate groups, postconditioning was implemented by ischemia and reperfusion (clamping and loosening the left femoral artery);CsA treatment was delivered with a single intravenous dose. Neurological deficits were scored at different times after CPR. Histological evaluation and electron microscopy were used to evaluate tissue damage, and TUNEL and flow cytometry were used to measure the apoptotic rate of hippocampal neurons and size of the mitochondrial permeability transition pore (mPTP) opening. Results The apoptotic rate was significantly lower in the postconditioned and CsA-treated groups compared with the model control and lowest in the CsA + postconditioned group. By histological evaluation and electron microscopy, the least damage was observed in the CsA + postconditioned group. The neurological deficit score of the CsA + postconditioned group was significantly higher than that of the CsA-treated group, but the size of the mPTP openings of these two groups was comparable. Conclusion Ischemic postconditioning combined with CsA exerted a better neuroprotective effect after CPR than did either postconditioning or CsA alone. Inhibiting the opening of the mPTP is not the only neuroprotective mechanism.