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Muscular Dystrophy - Springer Nature

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Last Updated: 09 June 2022

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Unmet Therapeutic Needs of Non-Ambulatory Patients with Duchenne Muscular Dystrophy: A Mixed-Method Analysis

"Objective Duchenne muscular dystrophy has served as the start of a patient-focused drug discovery process. " We started by investigating the needs of non-ambulatory Duchenne patients and, secondarily, investigating these requirements in the context of the PUL-PROMu2014a validated patient-reported outcome measure of upper limb function. Methods Non-ambulatory Patients or their caregivers from eight countries participated in an open-ended questionnaire asking about patients' most common signs and the benefits of new therapies. Thematic review revealed three congruent themes among widespread signs and important benefits of new therapies: muscle function, particularly upper limb function; body system functioning; and quality of life. Mean PUL-PROM total score in early-stage patients was 22 with higher scores in early-stage patients. Discussion Non-ambulatory Patients at Duchenne want new techniques that improve upper limb mobility and body system functionality, not simply regaining ambulation. ".

Source link: https://doi.org/10.1007/s43441-022-00389-x


Pain characteristics among individuals with Duchenne muscular dystrophy according to their clinical stage

Even though pain is a common problem affecting more than half of the patients with DMD, the background assessment of pain is not specific, standardized, or well understood in patients with Duchenne muscular dystrophy. " Face-to-face interviews were conducted using a structured questionnaire assessing the pain frequency, length, incidence, location, aggravating/relieving factors, pain relief, pain control, pain phenotype, and functional ability. Individuals in the LNA stage reported an increase in pain frequency and number of pain sites. The effect of pain on mood was also found to be higher in the LNA group than in the other clinical stages. Conclusions With the deterioration of the disease in patients with DMD, there has been a change in the pain characteristics, including the location, aggravating/relieving factors, pain severity, and pain interference.

Source link: https://doi.org/10.1186/s12891-022-05504-5


Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records

"Introduction" This research seeks to establish stages of Duchenne muscular dystrophy and evaluate the disease burden by the transition stage, using real-world administrative data supplemented by current electronic medical record data. " Methods and EMR data from the Decision Resources Group's Real World Data Repository were used to identify patients with DMD by diagnosis code and to categorize them into four disease stages based on DMD progression. Results A total of 938 of patients with DMD found in claims/EMR records had sufficient details for stage classification, providing stage classification. Both healthcare resource utilization and medical charges increased by stage. Conclusions Large-scale claims data supplemented by EMR results can be used to determine DMD progression and disease burden, as well as future real-world studies on DMD.

Source link: https://doi.org/10.1007/s12325-022-02117-1


Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION

In the current period, "Cardiac disease has emerged as a leading cause of death in Duchenne muscular dystrophy. Advanced Cardiac Therapies Network The aim of this report was to determine the diagnostic and therapeutic approach to DMD among pediatric cardiologists in Pediatric Cardiologists. Pediatric cardiology specialists within ACTION were surveyed about their DMD cardiac care strategies. Most commonly start an Angiotensin converting enzyme inhibitor and aldosterone antagonist prior to the onset of systolic disease, but the mechanisms for initiating beta-blocker therapy are more flexible. At least 1 DMD patient has been treated with an implantable cardioverter defibrillator, according to 17 providers, while 11 providers did not have an ICD for primary prevention in a DMD patient. Twenty-three providers will consider transplantation of a ventricular assist device as destination therapy, and three providers would consider a VAD only as a bridge to transplantation. Veterans Affairs will not be considered at their facility by five providers.

Source link: https://doi.org/10.1007/s00246-021-02807-7


Comparison of telerehabilitation versus home-based video exercise in patients with Duchenne muscular dystrophy: a single-blind randomized study

"Introduction Patients with Duchenne muscular dystrophy have lost their ability to on-site rehabilitation due to the COVID-19 pandemic. Patients and methods DMD patients were randomly assigned to telerehabilitation and video-exercise groups, according to Male, ambulatory DMD patients. After administration and 387. 76 m before care, and 387. 55 after surgery in video group, the 6MWT of the rehabilitation company was 391. 26 m before treatment and 387. 75 m before and 387. 75 m before treatment, and 327. 72 m after treatment and 377. 55 after treatment in video group 114. 55 after rehabilitation, 111. 55 after treatment in video group 114. 55 percent. Before therapy, the average NSAA score of the telerehabilitation team was 26. 70 %u00b1 8. 04 before diagnosis, and 25. 20 after treatment was 11. 33. 33 The telerehabilitation company's neck extension, bilateral shoulder paralysis, and left leg flexion, bilateral knee flexion and extension, bilateral ankle dorsiflexion, bilateral ankle flexion, and left ankle flexion all increased significantly and were higher than the video group, with left leg plantar flexion increasing significantly and were better than the video group. Conclusion The telerehabilitation strategy is more effective in muscle endurance than a video-based home exercise, but none of the programs improved functional outcomes in ambulatory patients with DMD," said the author.

Source link: https://doi.org/10.1007/s13760-022-01975-4


Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy

"The muscular dystrophies are progressive muscle wasting diseases, highlighted by persistent muscle damage that cannot be adequately recovered by satellite cell-driven regeneration. " To determine how satellite cells influence disease path, we'll create a genetic framework to mediate satellite cell death in dystrophic mouse models. MyoD re-expression in wildtype adult skeletal muscle improves membrane stability and promotes histopathology, in fact, while MyoD inhibition in a mouse model of muscular dystrophy improved membrane stability. "These findings show that satellite cell activation and the fetal gene program is ineffective in persistent dystrophic skeletal muscle. ".

Source link: https://doi.org/10.1038/s41467-022-30619-7


Effectiveness of Neridronate in the Management of Bone Loss in Patients with Duchenne Muscular Dystrophy: Results from a Pilot Study

"Introduction Bone loss is a significant problem among patients affected by Duchenne muscular dystrophy, a rare musculoskeletal disorder, especially in patients treated with glucocorticoids. " In this population, we wanted to determine the success of neridronate in terms of bone mineral density changes. Methods We retrospectively reviewed the records of patients affected by DMD's GCs, including outpatients from 2015 to 2020. Eight boys with DMD were included in the study at an average age of 2. 81 years, with a mean age at diagnosis of 4. 75 u00b1 2. 81 years. The changes in LS BMD and Z score in our cohort, as well as among non-ambulant patients with DMD without prior fragility fractures, were not significant between T0 and T1, nor among non-ambulant patients with Z scores. Conclusions "In this research, we found that neridronate may reduce bone loss in GC-treated patients with DMD at a one-year follow-up," "Figure 1" indicates for the first time.

Source link: https://doi.org/10.1007/s12325-022-02179-1


Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy

"Introduction Duchenne muscular dystrophy is a devastatingly inherited genetic muscle disease that causes chronic muscle loss, muscular dysfunction, and premature death due to respiratory and cardiac insufficiency. " DMD maintained its paradigmatic role in muscle disease research for the first time in many molecular disorders, with first systematic analysis of disease progression with ad hoc outcome measures and the first attempts at correcting a disease-causing gene mutation by several molecular targets in the following three and half decades.

Source link: https://doi.org/10.1007/s10072-022-06085-w


Long-Term Protective Effect of Human Dystrophin Expressing Chimeric (DEC) Cell Therapy on Amelioration of Function of Cardiac, Respiratory and Skeletal Muscles in Duchenne Muscular Dystrophy

"We have previously reported functional improvements that coincided with increased dystrophin expression following the introduction of dystrophin-expressing chimeric cells of myoblast origin to the mdx mouse models of DMD. Improved function was associated with reduced muscle fibrosis, reduced inflammation, and improved muscle morphology, which was demonstrated by a reduced number of centrally nucleated fibers and normalization of muscle fiber diameters. Human DEC is a novel therapeutic modality of Advanced Therapy Medicinal Products with the ability to control or halt the progression of DMD and improve quality of life of DMD patients. These encouraging preclinical results show that human DEC can be a novel therapeutic modality of Advanced Therapy Medicinal Products with the ability to accelerate or halt the progression of DMD and improve quality of life for DMD patients. Graphical Abstract Human DEC is a new therapeutic modality with the potential to reverse or halt progression of the DMD disease and improve quality of life of DMD patients. After systemically implanting human Dystrophin Expressing Chimeric Cells to the mdx/scid mouse model of DMD, we review the long-term effectiveness of human DEC therapy, which resulted in elevated dystrophin expression and reduced mdx muscle pathology. According to echocardiography, plethysmography, and standard muscle strength measurements, systemic administration of human DEC therapy resulted in improvement of cardiac, respiratory, and skeletal muscle function. Human DEC is a new Advanced Therapy Medicinal Product for future clinical use in DMD patients.

Source link: https://doi.org/10.1007/s12015-022-10384-2


Reduced bone mineral density in adolescents with Duchenne Muscular Dystrophy (DMD) and scoliosis

"Summary Duchenne muscular dystrophy is a progressive disorder commonly associated with reduced mobility and progressive scoliosis. " Introduction Based on quantitative computer tomography, evaluation of vertebral bone mineral content in Duchenne Muscular Dystrophy adolescents with untreated advanced scoliosis and comparison with healthy age-matched controls. Methods Thirty-seven DMD adolescents with spinal deformity were analyzed clinically and radiologically before definite spinal fusion was performed surgically and radiologically, compared to 31 male and age-matched healthy individuals. DMD adolescents could be found with statistically significant lower BMD in comparison to healthy controls, with an average value for the lumbar spine of 80. 5 mg/cm/3. 0 mg/cm3. In comparison to healthy controls, BMD Z-scores in children with scoliosis have significantly reduced BMD Z-scores, particularly in the lumbar spine. ".

Source link: https://doi.org/10.1007/s00198-022-06416-9

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions