Publications by authors named "Shams Ribault"

Background: The rapid advancement of technology-focused strategies in neurorehabilitation has brought optimism to individuals with neurological disorders, caregivers, and physicians while reshaping medical practice and training.

Objectives: We critically examine the implications of technology in neurorehabilitation, drawing on discussions from the 2021 and 2024 World Congress for NeuroRehabilitation. While acknowledging the value of technology, it highlights inherent limitations and ethical concerns, particularly regarding the potential overshadowing of humanistic approaches.

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Article Synopsis
  • Recent advancements in neuromuscular disease treatments could significantly improve patient outcomes, highlighting the importance of effective tools to measure motor function, like the Motor Function Measure (MFM).
  • The study aims to evaluate the quality of evidence surrounding MFM's measurement properties, specifically the 20-item version for young children and the original 32-item version, through a systematic review of existing validation and responsiveness research.
  • Analysis of 49 studies shows that MFM demonstrates strong reliability and validity across various neuromuscular diseases, with a particular emphasis on Spinal Muscular Atrophy (SMA), although further research is needed for specific diseases and measurement properties.
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Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.

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Article Synopsis
  • The study assessed the effectiveness of the 20-item Motor Function Measure (MFM-20) in tracking changes in motor skills in young children (ages 2-7) with spinal muscular atrophy types 1 (SMA1) and 2 (SMA2) who were treated with nusinersen.
  • It involved evaluating 22 SMA1 and 19 SMA2 patients over an average follow-up period of 17 months, measuring changes in various motor function domains.
  • Results showed that both SMA1 and SMA2 patients experienced significant improvements in motor function, validating the MFM-20 as a useful tool for monitoring the effects of nusinersen treatment.
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Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscular junction formation and maintenance. Among them, AGRN encodes agrin, an essential synaptic protein secreted by motoneurons. We have identified severe CMS patients with uncharacterized p.

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MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system such as Charcot-Marie-Tooth (CMT2Z), spinal muscular atrophy-like with or without cerebellar involvement, and a developmental syndrome associated with impaired growth, craniofacial dysmorphism and axonal neuropathy (DIGFAN syndrome). Such variability in clinical manifestations associated with the increasing number of variants of unknown significance detected by next-generation sequencing constitutes a serious diagnostic challenge.

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Background: Several surgical methods are used for deep brain stimulation (DBS) of the subthalamic nucleus (STN) in Parkinson's disease (PD). This study aimed to compare clinical outcomes and electrode placement accuracy after robot-assisted (RAS) versus frame-based stereotactic (FSS) STN DBS in Parkinson's disease.

Methods: In this single-center open-label study, we prospectively collected data from 48 consecutive PD patients who underwent RAS (Neuromate®; n = 20) or FSS (n = 28) STN DBS with the same MRI-based STN targeting between October 2016 and December 2018 in the university neurological hospital of Lyon, France.

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Background: Stroke results in balance disorders and these directly affect autonomy and quality of life. The purpose of this systematic review and meta-analysis was to determine the efficacy of physical therapy (PT) on balance and postural control after stroke.

Methods: We included all randomized controlled trials assessing the efficacy of PT on balance and postural control in adult patients after stroke without language restriction.

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Background: The last international consensus on the management of type 2 diabetes (T2D) recommends SGLT-2 inhibitors or GLP-1 agonists for patients with clinical cardiovascular (CV) disease; metformin remains the first-line glucose lowering medication. Last studies suggested beneficial effects of SGLT-2 inhibitors or GLP-1 agonists compared to DPP-4 inhibitors, in secondary CV prevention. Recently, a potential benefit of SGLT-2 inhibitors in primary CV prevention also has been suggested.

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The aim of this study was to propose a ranking of the currently available antidiabetic drugs, regarding vascular clinical outcomes, in patients with type 2 diabetes, through a network meta-analysis approach. Randomized clinical trials, regardless of the blinding design, testing contemporary antidiabetic drugs, and considering clinically relevant outcomes in patients with type 2 diabetes mellitus will be included. The primary outcomes of this analysis will be overall mortality, cardiovascular mortality, and major cardiovascular events.

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