6,205 results match your criteria: "Rehabilitation Management of Neuromuscular Disease"
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Brain
November 2024
Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia.
Article Synopsis
- Rigid spine syndrome is a rare condition in children marked by progressive scoliosis, neck and spine stiffness, muscle weakness, and breathing issues, primarily linked to genetic variations in the SELENON gene.
- Recent research identified additional genetic variants in the HMGCS1 gene in five patients, suggesting it plays a role in this syndrome, despite it not being previously linked to any diseases.
- Functional studies of the HMGCS1 variants showed altered protein stability and activity, and experiments in zebrafish indicated that these mutations severely impact development, but can be rescued by introducing healthy HMGCS1 mRNA.
Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.
Disabil Rehabil
November 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Article Synopsis
- Glycogen Storage Disease type 5 (GSD5), or McArdle disease, is characterized by a lack of glycogen phosphorylase enzyme in muscles, resulting in symptoms such as muscle pain and fatigue during physical activity.
- The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
- Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.
[Diagnosis, Notification, and Managements of ALS: A Personal Perspective from 40 years of Experience as a Clinical Neurologist].
Brain Nerve
November 2024
Department of Neurology, Neurological Center, Kameda Medical Center.
Article Synopsis
- The author shares a 40-year journey as a clinical neurologist specializing in treating amyotrophic lateral sclerosis (ALS), highlighting five patient cases from their early career at Chiba University Hospital.
- A notable case involves a patient who battled ALS for 31 years, ultimately facing total locked-in syndrome, illustrating the long-term challenges of the disease.
- The author also examines the profiles and treatment responses of 24 patients, discussing diagnostic delays and the complexities of caregiving and medical management for ALS patients.
More Than Just Another Elbow Tendinopathy: A Case Series of Misdiagnosed Ulnar Nerve Compression and Review of Common Upper Extremity Misdiagnoses in Climbing.
Curr Sports Med Rep
October 2024
Department of Orthopedic Surgery, Division of Sports Medicine, University of California, San Diego, La Jolla, CA.
Article Synopsis
- - Climbing sports are growing, but many injuries related to climbing are being misdiagnosed, especially by sports medicine professionals.
- - A case study identified three patients who were initially misdiagnosed with elbow tendinopathy when they actually had ulnar nerve compression, which was successfully treated with targeted rehab.
- - The article calls for increased awareness of misdiagnosed climbing injuries and offers clinical recommendations to help correctly diagnose and treat these issues.
Pain catastrophizing levels differentiate between common diseases with pain: HIV, fibromyalgia, complex regional pain syndrome, and breast cancer survivors.
Scand J Pain
January 2024
Department of Neurology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Article Synopsis
- The study investigates how different pain syndromes influence levels of pain catastrophizing in patients.
- A total of 727 chronic pain patients were categorized into groups based on their pain syndrome: breast cancer survivors, fibromyalgia, complex regional pain syndrome, and HIV.
- Results revealed three distinct clusters of pain catastrophizing: low (mostly breast cancer patients), moderate (predominantly fibromyalgia patients), and high (mainly HIV and CRPS patients), with helplessness being a significant factor in the high catastrophizing group.
New protocol for early robot-assisted gait training after spinal surgery.
Front Med (Lausanne)
October 2024
Department of Rehabilitation Medicine, Gangnam Severance Hospital, Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, Republic of Korea.
Article Synopsis
- - Early rehabilitation after spinal surgery is crucial for recovery, and a newly developed robot-assisted gait training (RAGT) protocol was tested for its effects on patient outcomes and therapist experiences, demonstrating promising improvements in functional ambulation and patient satisfaction.
- - The study involved collaboration with experienced physiatrists and physical therapists to create and refine the RAGT protocol, followed by a cross-sectional study with 32 patients and 5 therapists, which included five RAGT sessions.
- - Results showed significant improvements in ambulation scores post-treatment and general satisfaction among both patients (for fear of falling) and physical therapists, with therapists noting varying levels of satisfaction regarding the treatment's impact on their work environment.
Evaluation of Splint and Exercise Interventions for Carpal Tunnel Syndrome: Insights from Ultrasonographic Measurements.
Med Sci Monit
November 2024
Department of Orthopaedic and Traumatology, Private Yeni Yuzyil University, Istanbul, Turkey.
BACKGROUND Carpal tunnel syndrome (CTS) is a neuropathy caused by the entrapment of the median nerve, which requires effective management strategies. The median nerve is subjected to pressure within the carpal tunnel, resulting in tingling, numbness, and pain in the median side of the hand. We compared the efficacy of splint use with an exercise program vs exercise alone in patients with mild and moderate CTS.
View Article and Find Full Text PDFCharacterization of patients with Duchenne muscular dystrophy across previously developed health states.
PLoS One
October 2024
Pediatric Neurology, Catholic University, Rome, Italy.
Article Synopsis
- Project HERCULES created a detailed natural history model for Duchenne muscular dystrophy (DMD) that outlines eight health states, including varying levels of ambulatory and non-ambulatory conditions.
- The study analyzed data from 1,173 DMD patients, revealing that older age correlates with worse motor, pulmonary, and cardiac functionalities as patients progress through the health states.
- Key metrics like the North Star Ambulatory Assessment (NSAA) score and forced vital capacity (FVC) indicate significant declines in function from the early ambulatory state to advanced stages, emphasizing the need for improved economic modeling and decision-making in DMD treatment.
Longitudinal relationships between free-living activities, fatigue, and symptom severity in myasthenia gravis using cohort and individualized models.
Muscle Nerve
January 2025
Human Performance Laboratory, Faculty of Kinesiology, University of Calgary, Calgary, Alberta, Canada.
Introduction/aims: Fluctuating symptoms and fatigue are common issues in myasthenia gravis (MG), but it is unclear if these symptoms are related to physical activity or sleep patterns. This study sought to determine the day-to-day relationship between patient-reported symptoms and physical activity and sleep over 12 weeks.
Methods: Sixteen participants with generalized MG wore a wrist-mounted accelerometer continuously for the study duration and reported their symptoms and fatigue each evening.
Inclusion body myositis: an update.
Curr Opin Rheumatol
January 2025
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Purpose Of Review: To review recent advances in our understanding of the epidemiology, pathophysiology, and management of inclusion body myositis (IBM).
Recent Findings: Recent epidemiologic studies have highlighted the morbidity and mortality associated with IBM, including the impact of dysphagia. Multiomic analyses of IBM tissues have identified new pathogenic pathways and biomarkers for use in clinical trials.
Rheumatoid Arthritis and COVID-19 at the Intersection of Immunology and Infectious Diseases: A Related PRISMA Systematic Literature Review.
Int J Mol Sci
October 2024
Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", 020022 Bucharest, Romania.
Article Synopsis
- Rheumatoid arthritis (RA) patients experience unique challenges when infected with SARS-CoV-2 due to their immunocompromised status and treatments, which complicates their health outcomes compared to the general population.
- The systematic review, adhering to PRISMA guidelines, analyzed literature from 2021-2023 and highlighted issues such as delays in treatment due to COVID-19 fears and increased risk of severe outcomes tied to cardiovascular and metabolic conditions.
- Additionally, the review found that while COVID-19 vaccines are generally safe for RA patients, certain treatments like Methotrexate and Rituximab may weaken their vaccine response, emphasizing the need for tailored medical management during the pandemic.
Signaling Paradigms of HS-Induced Vasodilation: A Comprehensive Review.
Antioxidants (Basel)
September 2024
Neuromuscular Rehabilitation Clinic Division, Clinical Emergency Hospital "Bagdasar-Arseni", 041915 Bucharest, Romania.
Article Synopsis
- * HS promotes vasodilation mainly by activating ATP-sensitive potassium channels and inhibiting L-type calcium channels, leading to more relaxed vascular smooth muscle cells and increased blood flow.
- * The gas also boosts the effects of cyclic guanosine monophosphate (cGMP) through the stimulation of soluble guanylyl cyclase and enhances nitric oxide availability, creating a synergistic effect that further supports blood vessel relaxation.
Effects of Traditional Chinese Martial Arts and Stretching Exercises on Symptoms of Fibromyalgia: A Systematic Review and Meta-Analysis.
Percept Mot Skills
December 2024
Department of Physical Education, Jiangsu Second Normal University, Nanjing, China.
Article Synopsis
- * A review of multiple studies showed that both TCMA and ST significantly reduced Fibromyalgia Impact Questionnaire (FIQ) scores, improved pain and fatigue levels, and enhanced sleep quality compared to control groups.
- * The results suggest that non-pharmacological approaches like TCMA and ST can effectively manage FMS symptoms, but future research is needed to pinpoint the best practices for these interventions to optimize treatment for individual patients.
Efficacy of Laser Acupuncture on Neurophysiological Parameters of Median Nerve and Hand Function in Postpartum Women: A Randomized Controlled Clinical Trial.
Photobiomodul Photomed Laser Surg
December 2024
Department of Physical Therapy for Women's Health, Faculty of Physical Therapy, Cairo University, Cario, Egypt.
This study was conducted to ascertain the efficacy of photo acupuncture (PA) on the neurophysiological parameters of the median nerve and hand function in postnatal women. Carpal tunnel syndrome (CTS) has been documented in up to 62% of pregnant females. PA, a noninvasive treatment that utilizes photo therapy on acupoints, could aid in the management of CTS.
View Article and Find Full Text PDFArticle Synopsis
- * Recent advancements include personalized approaches utilizing real-time feedback and innovative stimulation methods that target specific neural pathways to better manage pain.
- * While certain neuromodulation therapies can lead to significant, long-lasting relief for chronic pain, there's a need for caution due to potential bias in clinical research funding and an emphasis on collecting real-world data for better insights into their effectiveness.
A central and peripheral dual neuromodulation strategy in pain management of zoster-associated pain.
Sci Rep
October 2024
Department of Pain, The Third Xiangya Hospital, Institute of Pain Medicine, Central South University, Changsha, China.
Article Synopsis
- A study investigates the effectiveness of spinal cord stimulation (SCS) combined with dorsal root ganglion (DRG) pulsed radiofrequency (PRF) in treating zoster-associated pain (ZAP), comparing it to SCS alone.
- Results showed that while VAS scores were similar at the start and discharge, the SCS+PRF group had significantly lower pain scores at a 6-month follow-up and fewer patients experienced residual moderate pain.
- Additionally, no patients in the SCS+PRF group progressed to postherpetic neuralgia, indicating that this combined treatment may be a better option for managing ZAP.
[Progress in neurosurgical treatment of neurofibromatosis type 1].
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi
October 2024
Department of Neurosurgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji'nan Shandong, 250021, P. R. China.
Article Synopsis
- The text reviews recent advancements in neurosurgical treatments for neurofibromatosis type 1 (NF1), highlighting the need for comprehensive clinical guidelines to address its complications.
- NF1 often leads to serious neurological issues, including brain gliomas and neurofibromas, necessitating a team approach for treatment that may involve surgery for symptomatic cases.
- The conclusion emphasizes that surgical intervention is crucial when other treatments fail, aiming to improve patient outcomes through enhanced techniques and careful postoperative care.
[A case of amyotrophic lateral sclerosis managed by tracheostomy and invasive ventilation in which air leaks occurred at the cuff].
Rinsho Shinkeigaku
November 2024
Department of Neurology, Sayama Neurological Hospital.
Article Synopsis
- A 64-year-old woman with amyotrophic lateral sclerosis has been dependent on artificial ventilation through tracheotomy for 6 years.
- Imaging revealed her trachea was dilated and the cuff pressure of her tracheostomy tube was excessively high, causing air leaks.
- By using an adjustable flange tracheostomy tube, they successfully decreased the cuff pressure and resolved the air leak, highlighting the importance of managing cuff pressure to prevent complications.
Caregiver Values and Preferences Related to Surgical Decision-Making for Children with Medical Complexity.
J Pediatr
January 2025
Department of Population Health Sciences, University of Utah, Salt Lake City, UT; Salt Lake City VA Informatics Decision-Enhancement and Analytic Sciences, Salt Lake City, UT.
Article Synopsis
- The study aimed to understand the values and preferences of caregivers for children with complex medical needs, specifically focusing on surgical decisions for neuromuscular scoliosis to help develop a decision support tool.
- Qualitative interviews were conducted with caregivers from different backgrounds, analyzing their experiences to identify key themes related to treatment choices and concerns.
- The findings revealed that caregivers prioritize pain management, mobility, quality of life, peer support, and the uncertainty of outcomes, highlighting the need for better decision-making support that considers their values and addresses uncertainties in treatment.
The Effect of Spinal Cord Stimulation on Spinal Dorsal Horn Lipid Expression in Experimental Painful Diabetic Polyneuropathy: A Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry Imaging Study.
Neuromodulation
December 2024
Department of Anesthesiology and Pain Management, Maastricht University Medical Centre, Maastricht, The Netherlands; Research Institute of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.
Objectives: Diabetes-induced peripheral nerve fiber damage can cause painful diabetic polyneuropathy (PDPN), induced by central sensitization through proinflammatory processes in the spinal dorsal horn. Disturbances in spinal dorsal horn lipid metabolism play a major role in proinflammatory regulation. Conventional (Con)-spinal cord stimulation (SCS) is an alternative treatment for pain relief in PDPN, whereas differential target multiplexed (DTM)-SCS could be more effective than Con-SCS, specifically targeting the spinal inflammatory response.
View Article and Find Full Text PDFElectroacupuncture Relieves Neuropathic Pain via Adenosine 3 Receptor Activation in the Spinal Cord Dorsal Horn of Mice.
Int J Mol Sci
September 2024
College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China.
Article Synopsis
- - Neuropathic pain (NPP) is a challenging condition that existing treatments struggle to address, leading to a search for better therapeutic options like electroacupuncture (EA), which has shown promise in managing pain in both humans and animals.
- - This study investigates the role of the adenosine (Adora-3) signaling pathway in the central nervous system as a mechanism for pain relief mediated by EA, using specific male mice and measuring molecular changes in the spinal cord after EA treatment.
- - The findings indicate that EA increases the expression of Adora-3 and CD73 while inhibiting ADA, enhancing adenosine release, which in turn reduces pain responses; further testing with agonists and antagonists confirms the significant
Complex Exercises Improve Cognition in People With Parkinson's Disease and Freezing of Gait.
Neurorehabil Neural Repair
October 2024
Laboratory of Neuromuscular Adaptations to Strength Training, School of Physical Education and Sport, University of São Paulo, SP, Brazil.
Article Synopsis
- Evidence indicates that cognitive decline may contribute to freezing of gait (FOG) in Parkinson's disease (PD), with challenging exercises possibly serving as effective rehabilitation.
- A study compared the effects of adapted resistance training with instability (ARTI) to traditional motor rehabilitation (TMR) on cognitive function and FOG severity in individuals with PD.
- Results showed that the ARTI group experienced significant cognitive improvements and that enhancements in frontal lobe function were linked to reduced FOG severity, highlighting the potential of complex exercises in therapy for PD.
Translating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease.
Physiotherapy
December 2024
Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, United States.
Article Synopsis
- Implementing scientific findings in clinical practice is challenging, highlighting the need for effective dissemination of important research.
- This study created a multilingual Practice Brief to promote safe and effective exercise for children with Charcot-Marie-Tooth disease, based on an existing clinical guideline.
- The Practice Brief was collaboratively developed by health professionals and will be distributed through various online and print platforms to reach medical professionals involved in CMT rehabilitation.
Role and promise of health policy and systems research in integrating rehabilitation into the health systems.
Health Res Policy Syst
October 2024
Department of Social Work, Education and Community Wellbeing, Northumbria University, Newcastle Upon Tyne, United Kingdom.
Despite recognized need and reasonable demand, health systems and rehabilitation communities keep working in silos, independently with minimal recognition to the issues of those who require rehabilitation services. Consolidated effort by health systems and rehabilitation parties, recognizing the value, power and promise of each other, is a need of the hour to address this growing issue of public health importance. In this paper, the importance and the need for integration of rehabilitation into health system is emphasized.
View Article and Find Full Text PDFPedal Vessel Calcification and Risk of Major Adverse Foot Events in the Diabetic Neuropathic, Nephropathic Foot.
J Am Podiatr Med Assoc
November 2024
†Department of Physical Therapy, Congdon School of Health Sciences, High Point University, High Point, NC.
Article Synopsis
- - The study focused on understanding how pedal vessel calcification (PVC) affects the risk of major foot complications (MAFEs) and various stages of chronic kidney disease (CKD) in patients with diabetes and peripheral neuropathy.
- - Researchers reviewed medical records of 152 patients, scoring PVC based on foot x-rays, and found that as PVC and CKD stage increased, so did the risk of experiencing any MAFE.
- - The findings suggest that PVC could indicate a higher risk for serious foot issues and may warrant further medical attention for patients with diabetes and kidney problems.