neuromuscular diseases
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2022 ◽  
pp. 1-20
Author(s):  
Anna Ogonowska-Slodownik ◽  
Ana Angélica R. de Lima ◽  
Luciana Cordeiro ◽  
Natalia Morgulec-Adamowicz ◽  
Mar’ıa Alonso-Fraile ◽  
...  

Background: Aquatic exercise is among the most common physical activity modalities performed by people with disabilities. Objective: The present paper reviews currently-available research on aquatic therapy (AT) for persons with neuromuscular diseases (NMD). Methods: A scoping review of the existing literature was conducted on PubMed, Embase, Medline, Scopus, Web of Science, SPORTdiscus, CINAHL and Lilacs from the earliest date available until October 2020. It follows the methodological framework for conducting a scoping review proposed by the Joanna Briggs Institute. Results: A total of 28 articles were analyzed and the study parameters grouped by the topography of NMD; most of the studies (n = 16) addressed myopathies. A considerable increase in the number of studies was found over time, and heterogeneity was identified across and within AT interventions for persons with NMD; hence, to allow more effective interpretation of study results, there is a need to standardize the fundamental parameters and procedures for aquatic therapy. Conclusions: This scoping review provides a comprehensive outline of available literature; the findings could serve as a starting point for clinical studies on the effects of AT on persons with NMD, and encourage a more coherent approach to their design.


Coronaviruses ◽  
2022 ◽  
Vol 03 ◽  
Author(s):  
Nandkishor Kotagale ◽  
Brijesh Taksande ◽  
Nazma Inamdar

Abstract: The catastrophe of the ongoing COVID-19 pandemic is caused by Severe Acute Respiratory Syndrome Corona Virus-2 (SARS-CoV-2). The respiratory system appears to be ground zero in the majority of the patients. However, many other organs can get infected by cytokines, chemokines and other mediators released in response to the presence of the virus. The neurotropism by the SARS-CoV-2 is established beyond doubt. In addition to non-specific symptoms, the symptoms specific to central and/or peripheral nervous system diseases as well as neuromuscular diseases have been observed in numerous clinical cases. These observations and the experiences with other coronavirus infections earlier and flu pandemics raise concerns not only about the neurological effects in active disease but also about the long-term effects generated by the infection, immune and inflammatory functions. The knowledge of biological actions of agmatine in the backdrop of physiological events instigated by invading SARS-CoV-2 and host’s response, especially in neural events, focuses on the possible overlaps of biomolecular pathways at a number of instances. This is not surprising since the factors stimulated during SARS-CoV-2 infection are the disease-generating neuroinflammatory components altered by agmatine. Hence, we hypothesize the possible beneficial role of agmatine in SARS-CoV-2 infection. Based on a narrative review of the literature, agmatine can be proposed as a plausible beneficial candidate for supporting treatment of SARS-CoV-2 infection and for addressing post-infection neurological complications.


Author(s):  
Cevher Savcun Demirci ◽  
Gülşah Sütçü ◽  
Fatma Ayvat ◽  
Özge Onursal Kılınç ◽  
Mert Doğan ◽  
...  

PLoS ONE ◽  
2022 ◽  
Vol 17 (1) ◽  
pp. e0261732
Author(s):  
Prabhat Pathak ◽  
Jeongin Moon ◽  
Se-gon Roh ◽  
Changhyun Roh ◽  
Youngbo Shim ◽  
...  

Minimum toe clearance (MTC) is an important indicator of the risk of tripping. Aging and neuromuscular diseases often decrease MTC height and increase its variability, leading to a higher risk of tripping. Previous studies have developed visual feedback-based gait training systems to modify MTC. However, these systems are bulky and expensive, and the effects of the training continue only for a short time. We paid attention to the efficacy of vibration in decreasing the variability of gait parameters, and hypothesized that proper vibration applied to soles can reduce the MTC variability. Using shoes embedded with active vibrating insoles, we assessed the efficacy of both sub- and supra-threshold vibration in affecting MTC distribution. Experiment results with 17 young and healthy adults showed that vibration applied throughout the walking task with constant intensity of 130% of sensory threshold significantly decreased MTC variability, whereas sub-threshold vibration yielded no significant effect. These results demonstrate that a properly designed tactile sensory input which is controlled and delivered by a simple wearable device, the active insole, can reduce the MTC variability during walking.


Author(s):  
Timothy J. Hines ◽  
Cathleen Lutz ◽  
Stephen A. Murray ◽  
Robert W. Burgess

As sequencing technology improves, the identification of new disease-associated genes and new alleles of known genes is rapidly increasing our understanding of the genetic underpinnings of rare diseases, including neuromuscular diseases. However, precisely because these disorders are rare and often heterogeneous, they are difficult to study in patient populations. In parallel, our ability to engineer the genomes of model organisms, such as mice or rats, has gotten increasingly efficient through techniques such as CRISPR/Cas9 genome editing, allowing the creation of precision human disease models. Such in vivo model systems provide an efficient means for exploring disease mechanisms and identifying therapeutic strategies. Furthermore, animal models provide a platform for preclinical studies to test the efficacy of those strategies. Determining whether the same mechanisms are involved in the human disease and confirming relevant parameters for treatment ideally involves a human experimental system. One system currently being used is induced pluripotent stem cells (iPSCs), which can then be differentiated into the relevant cell type(s) for in vitro confirmation of disease mechanisms and variables such as target engagement. Here we provide a demonstration of these approaches using the example of tRNA-synthetase-associated inherited peripheral neuropathies, rare forms of Charcot-Marie-Tooth disease (CMT). Mouse models have led to a better understanding of both the genetic and cellular mechanisms underlying the disease. To determine if the mechanisms are similar in human cells, we will use genetically engineered iPSC-based models. This will allow comparisons of different CMT-associated GARS alleles in the same genetic background, reducing the variability found between patient samples and simplifying the availability of cell-based models for a rare disease. The necessity of integrating mouse and human models, strategies for accomplishing this integration, and the challenges of doing it at scale are discussed using recently published work detailing the cellular mechanisms underlying GARS-associated CMT as a framework.


Dysphagia ◽  
2022 ◽  
Author(s):  
Nicolas Audag ◽  
Michel Toussaint ◽  
Giuseppe Liistro ◽  
Laure Vandervelde ◽  
Emmanuelle Cugy ◽  
...  

2021 ◽  
Vol 36 ◽  
pp. 119-122
Author(s):  
K. R. Bharath Kumar Reddy

Objectives: The objectives of the study were to describe the profile of patients attending an exclusive paediatric sleep clinic in India. Materials and Methods: Children aged 1 month–18 years, attending an exclusive paediatric sleep clinic, were assessed using standardized questionnaires. Children underwent sleep coaching, were treated medically, or underwent polysomnography based on the decision of the paediatric pulmonologist. Level 1 polysomnography was conducted by trained personnel. Results: Of 186 children, 36.5% were for infant sleep issues, 24.7% suspected obstructive sleep apnea (OSA), 18.2% neuromuscular diseases with sleep problems, 15.6% genetic disorders with sleep problems, 4.3% parasomnias, and 0.5% abnormal movements during sleep. Of the 85 paediatric polysomnographies conducted, 9.4% were normal studies, 87% had OSA, 1.1% restless leg syndrome, and 2.3% were inadequate studies. Conclusion: Sleep disorders in children are not uncommon and paediatricians need to be aware and identify them early. More number of exclusive paediatric sleep clinics need to be established in India.


PLoS ONE ◽  
2021 ◽  
Vol 16 (12) ◽  
pp. e0261475
Author(s):  
Bart Bloemen ◽  
Eirlys Pijpers ◽  
Edith Cup ◽  
Jan Groothuis ◽  
Baziel van Engelen ◽  
...  

Background High quality care of patients with neuromuscular diseases requires a personalised approach that focuses on achieving and maintaining a level of functioning that enables them to be in a state of well-being. The capability approach states that well-being should be understood in terms of capabilities, the substantial opportunities that people have to be and do things they have reasons to value. In this Rehabilitation and Capability care for patients with Neuromuscular diseases (ReCap-NMD) study, we want to investigate whether providing care based on the capability approach (capability care) has an added value in the rehabilitation of patients with neuromuscular diseases (NMD). Methods Two groups of 30 adult patients with facioscapulohumeral muscular dystrophy or myotonic dystrophy type 1 will be included. The first group will receive rehabilitation care as usual with a follow-up period of 6 months. Then, based on theory, and experiences of patients and healthcare professionals, capability care will be developed. During the following 3 months, the multidisciplinary outpatient rehabilitation care team will be trained in providing this newly developed capability care. Subsequently, the second group will receive capability care, with a follow-up period of 6 months. A mixed methods approach is used with both qualitative and quantitative outcome measures to evaluate the effect of capability care and to perform a process evaluation. The primary outcome measure will be the Canadian Occupational Performance Measure. Discussion The ReCap-NMD study is the first study to design and implement a healthcare intervention based on the capability approach. The results of this study will expand our knowledge on how the capability approach can be applied in delivering and evaluating healthcare, and will show whether implementing such an intervention leads to a higher well-being for patients with NMD. Trial registration Registered at Trialregister.nl (Trial NL8946) on 12th of October, 2020.


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