Degenerative Neurological and Neuromuscular Disease最新文献

{"title":"Continuous noninvasive ventilation for respiratory failure in patients with amyotrophic lateral sclerosis: current perspectives.","authors":"Giuseppe Fiorentino,&nbsp;Anna Annunziata,&nbsp;Anna Michela Gaeta,&nbsp;Maurizia Lanza,&nbsp;Antonio Esquinas","doi":"10.2147/DNND.S170771","DOIUrl":"https://doi.org/10.2147/DNND.S170771","url":null,"abstract":"<p><p>Respiratory failure is a recognized late complication of amyotrophic lateral sclerosis. It is related to the neurological progression of the diseases with the impairment of the respiratory musculature. Survival and quality of life of amyotrophic lateral sclerosis patients is improved by using noninvasive mechanical ventilation. The rate of long-term mechanical ventilation is different within and between countries. Cultural factors, socioeconomic conditions, and physician attitude often influence the decision to start noninvasive ventilation. Technical elements, like the choice of the correct interface, solid caregivers support, and the communication between the patient and the physician are essential for achieving therapeutic goals, especially in the case of continuous treatment.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"8 ","pages":"55-61"},"PeriodicalIF":0.0,"publicationDate":"2018-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S170771","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36502810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physical therapy for individuals with amyotrophic lateral sclerosis: current insights.","authors":"Vanina Dal Bello-Haas","doi":"10.2147/DNND.S146949","DOIUrl":"https://doi.org/10.2147/DNND.S146949","url":null,"abstract":"<p><p>Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative, and inevitably fatal disease. There is no cure for ALS and life expectancy is typically 2-5 years after symptom onset. Despite the lack of a cure and the rapidly progressive nature of the disease, ALS is considered a \"treatable disease\" and rehabilitation is integral to optimal, comprehensive care. In addition to the other health care professions making up the health care team, physical therapy provides a critical role in the overall management in individuals with ALS. Physical therapy that is tailored to the individual's needs and goals and focused on addressing symptoms and maximizing function and participation enables people with ALS to live their lives to the fullest and with quality. The purpose of this paper is to review some of the recent ALS research findings that have implications for physical therapy practice.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"8 ","pages":"45-54"},"PeriodicalIF":0.0,"publicationDate":"2018-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S146949","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37234467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cladribine tablets' potential role as a key example of selective immune reconstitution therapy in multiple sclerosis.","authors":"Alexey N Boyko,&nbsp;Olga V Boyko","doi":"10.2147/DNND.S161450","DOIUrl":"https://doi.org/10.2147/DNND.S161450","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is one of the most important, disabling, and prevalent neurological disorders of young adults. It is a chronic inflammatory and neurodegenerative disease when autoreactive B and T cells have downstream effects that result in demyelination and neuronal loss. Anti-inflammatory disease-modifying therapies do have proven efficacy in delaying disease and disability progression in MS. While the progress in MS treatments has already improved the prognosis and quality of patients' lives overall, there are some clear shortcomings and unmet needs in the current MS treatment landscape. The most promising means of MS treatment is selective immune reconstitution therapy (SIRT). This therapy is given in short-duration courses of immunosuppression, producing durable effects on the immune system and preventing nervous tissue loss. This review discusses the mechanisms of action and the data of clinical trials of cladribine tablets as an example of SIRT in MS. The clinical benefits of cladribine tablets in these studies include decreased relapse rate and disability progression with large reductions in lesion activity, and protection against brain volume loss. Whether all of these neurological findings are direct results of lymphocyte depletion, or if there are downstream effects on other, unknown, neurodegenerative processes are yet to be determined, but these clearly point to an interesting area of research.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"8 ","pages":"35-44"},"PeriodicalIF":0.0,"publicationDate":"2018-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S161450","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36347739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spotlight on postural control in patients with multiple sclerosis.","authors":"Luca Prosperini,&nbsp;Letizia Castelli","doi":"10.2147/DNND.S135755","DOIUrl":"https://doi.org/10.2147/DNND.S135755","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a disease that heavily affects postural control, predisposing patients to accidental falls and fall-related injuries, with a relevant burden on their families, health care systems and themselves. Clinical scales aimed to assess balance are easy to administer in daily clinical setting, but suffer from several limitations including their variable execution, subjective judgment in the scoring system, poor performance in identifying patients at higher risk of falls, and statistical concerns mainly related to distribution of their scores. Today we are able to objectively and reliably assess postural control not only with laboratory-grade standard force platform, but also with low-cost systems based on commercial devices that provide acceptable comparability to gold-standard equipment. The sensitivity of measurements derived from force platforms is such that we can detect balance abnormalities even in minimally impaired patients and predict the risk of future accidental falls accurately. By manipulating sensory inputs (dynamic posturography) or by adding a concurrent cognitive task (dual-task paradigm) to the standard postural assessment, we can unmask postural control deficit even in patients at first demyelinating event or in those with a radiologic isolated syndrome. Studies on neuroanatomical correlates support the multifactorial etiology of postural control deficit in MS, with the association with balance impairment being correlated with cerebellum, spinal cord, and highly ordered processing network according to different studies. Postural control deficit can be managed by means of rehabilitation, which is the most important way to improve balance in patients with MS, but there are also suggestions of a beneficial effect of some pharmacologic interventions. On the other hand, it would be useful to pay attention to some drugs that are currently used to manage other symptoms in daily clinical setting because they can further impair postural controls of patients with MS.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"8 ","pages":"25-34"},"PeriodicalIF":0.0,"publicationDate":"2018-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S135755","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36347738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Employment of patients with multiple sclerosis: the influence of psychosocial-structural coping and context.","authors":"Lavanya Vijayasingham,&nbsp;Fatima Fanna Mairami","doi":"10.2147/DNND.S131729","DOIUrl":"https://doi.org/10.2147/DNND.S131729","url":null,"abstract":"<p><p>Patients with multiple sclerosis tend to report higher levels of work difficulties and negative outcomes, such as voluntary and involuntary work termination and reduced work participation. In this article, we discuss the complex interactions of disease, personal coping strategies, and social and structural factors that contribute to their work experiences and outcomes. An overview of the coping strategies and actions that leverage personal and context-level factors and dynamics is also provided to support the overall goal of continued work in patients with MS.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"8 ","pages":"15-24"},"PeriodicalIF":0.0,"publicationDate":"2018-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S131729","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36347737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biomarkers of Duchenne muscular dystrophy: current findings.","authors":"Cristina Al-Khalili Szigyarto,&nbsp;Pietro Spitali","doi":"10.2147/DNND.S121099","DOIUrl":"https://doi.org/10.2147/DNND.S121099","url":null,"abstract":"<p><p>Numerous biomarkers have been unveiled in the rapidly evolving biomarker discovery field, with an aim to improve the clinical management of disorders. In rare diseases, such as Duchenne muscular dystrophy, this endeavor has created a wealth of knowledge that, if effectively exploited, will benefit affected individuals, with respect to health care, therapy, improved quality of life and increased life expectancy. The most promising findings and molecular biomarkers are inspected in this review, with an aim to provide an overview of currently known biomarkers and the technological developments used. Biomarkers as cells, genetic variations, miRNAs, proteins, lipids and/or metabolites indicative of disease severity, progression and treatment response have the potential to improve development and approval of therapies, clinical management of DMD and patients' life quality. We highlight the complexity of translating research results to clinical use, emphasizing the need for biomarkers, fit for purpose and describe the challenges associated with qualifying biomarkers for clinical applications.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"8 ","pages":"1-13"},"PeriodicalIF":0.0,"publicationDate":"2018-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S121099","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36347736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erythrocyte membrane in the evaluation of neurodegenerative disorders.","authors":"Anjana Sadanand,&nbsp;Anjali Janardhanan,&nbsp;Arun Sankaradoss,&nbsp;Arambakkam J Vanisree,&nbsp;Thamilpavai Arulnambi,&nbsp;Kesavamurthy Bhanu","doi":"10.2147/DNND.S143989","DOIUrl":"https://doi.org/10.2147/DNND.S143989","url":null,"abstract":"<p><p>Neurodegenerative diseases have many similar pathological conditions, and very few studies exist which detail their molecular features. Proteins like Na⁺/K⁺-ATPase (NKA), α-spectrin (SPTA) and drebrin have been reported to be involved in the integrity of neuronal cell membrane and their functions. Furthermore, recent studies have highlighted their implication in neurodegeneration. In the current study, we wanted to identify the role of NKA, SPTA and drebrin in the erythrocyte membranes obtained from the blood of patients with neurodegenerative disorders (NDs) subjected to motor impairment such as Parkinson's disease, amyotrophic lateral sclerosis, ataxia and dementia. We have studied the activity of NKA and the expression of NKA, SPTA and drebrin in the erythrocyte membrane by quantitative real-time PCR and Western blot obtained from the blood samples of patients with NDs culminating in movement and memory dysfunction. We observed a significant reduction in the expressions of NKA, SPTA and drebrin when compared to control and significant variations among the recruited ND samples. On correlating, we found a significant relationship between the expressions and the clinical features such as bradykinesia. Thus, we suggest that the reduction in the expressions of NKA, SPTA and drebrin could function as tools of assessment and speculate the particular neurodegenerative condition.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"7 ","pages":"127-134"},"PeriodicalIF":0.0,"publicationDate":"2017-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S143989","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36347735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current concepts in multiple sclerosis therapy.","authors":"Leslie Sedal,&nbsp;Antony Winkel,&nbsp;Joshua Laing,&nbsp;Lai Yin Law,&nbsp;Elizabeth McDonald","doi":"10.2147/DNND.S109251","DOIUrl":"https://doi.org/10.2147/DNND.S109251","url":null,"abstract":"<p><p>Over the past 20 years, the available therapies for multiple sclerosis have expanded exponentially. With several more agents likely to be approved for public funding in Australia in the next 12 months on top of the existing multitude of Australian Pharmaceutical Benefits Scheme-subsidized therapies, the choice is becoming even more complex. This review summarizes the current state of available therapies and anticipates likely future directions, including an important focus on contemporary symptom management. For each agent, the major trials, side effects, and clinical utility are summarized, with a particular focus on the Australian experience of these therapies. It is hoped this review provides an up-to-date reference of the exciting current state of multiple sclerosis therapy.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"7 ","pages":"109-125"},"PeriodicalIF":0.0,"publicationDate":"2017-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S109251","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36348366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring targets and therapies for amyotrophic lateral sclerosis: current insights into dietary interventions.","authors":"Shyuan T Ngo,&nbsp;Jia D Mi,&nbsp;Robert D Henderson,&nbsp;Pamela A McCombe,&nbsp;Frederik J Steyn","doi":"10.2147/DNND.S120607","DOIUrl":"https://doi.org/10.2147/DNND.S120607","url":null,"abstract":"<p><p>A growing number of preclinical and human studies demonstrate a disease-modifying effect of nutritional state in amyotrophic lateral sclerosis (ALS). The management of optimal nutrition in ALS is complicated, as physiological, physical, and psychological effects of the disease need to be considered and addressed accordingly. In this regard, multidisciplinary care teams play an integral role in providing dietary guidance to ALS patients and their carers. However, with an increasing research focus on the use of dietary intervention strategies to manage disease symptoms and improve prognosis in ALS, many ALS patients are now seeking or are actively engaged in using complementary and alternative therapies that are dietary in nature. In this article, we review the aspects of appetite control, energy balance, and the physiological effects of ALS relative to their impact on overall nutrition. We then provide current insights into dietary interventions for ALS, considering the mechanisms of action of some of the common dietary interventions used in ALS, discussing their validity in the context of clinical trials.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"7 ","pages":"95-108"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/DNND.S120607","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36348367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of a multimodal intervention on gait and balance of subjects with progressive multiple sclerosis: a prospective longitudinal pilot study.","authors":"Babita Bisht, Warren G Darling, Emily C White, Kaitlin A White, E Torage Shivapour, M Bridget Zimmerman, Terry L Wahls","doi":"10.2147/DNND.S128872","DOIUrl":"10.2147/DNND.S128872","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the effects of a multimodal intervention including a modified Paleolithic diet, nutritional supplements, stretching, strengthening exercises with electrical stimulation of trunk and lower limb muscles, meditation and massage on walking performance and balance of subjects with progressive multiple sclerosis (MS).</p><p><strong>Materials and methods: </strong>Twenty subjects with mean (standard deviation) age of 51.7 (6.4) years and Expanded Disability Status Scale score of 6.2 (1) participated in a 12-month study. Assessments were completed at baseline, 3, 6, 9, and 12 months.</p><p><strong>Results: </strong>The entire cohort did not show significant changes in any of the assessments over 12 months except higher speed of walking toward the 10 feet mark during timed up and go (TUG) test at 6 months compared with baseline (mean change 7.9 cm/s [95% confidence interval {CI}]: 0.3, 15.2; <i>p</i>=0.041). Sub-group analysis revealed that 50% subjects (n=10) showed decrease in TUG time from baseline to at least 3 of 4 time-points post-intervention and were considered as responders (TUG-Res), the remaining 10 subjects were considered as nonresponders (TUG-NRes). Over 12 months, TUG-Res showed decreased mean TUG time by 31% (95% CI: -52%, -2%), increased median Berg Balance Scale scores (42 to 47), 30% increase in mean timed 25-foot walk speed (>20% considered clinically significant) and increased speed of walk toward 10 feet mark during TUG by 11.6 cm/s (95% CI: -3.0, 25.9) associated with increases in step lengths and decrease in step duration. TUG-NRes showed deterioration in walking ability over 12 months. Comparison of TUG-Res and TUG-NRes showed no significant differences in adherence to intervention but better stride duration and longer step length at baseline for TUG-Res than for TUG-NRes (<i>p</i><0.05).</p><p><strong>Conclusion: </strong>A multimodal lifestyle intervention may improve walking performance and balance in subjects with progressive MS who have mild-to-moderate gait impairment, whereas subjects with severe gait impairments may not respond to this intervention. Future trials should assess effects of this intervention in subjects with MS during early stages of the disease.</p>","PeriodicalId":11147,"journal":{"name":"Degenerative Neurological and Neuromuscular Disease","volume":"7 ","pages":"79-93"},"PeriodicalIF":0.0,"publicationDate":"2017-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/19/4b/dnnd-7-079.PMC6053103.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36348365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}