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Muscular Dystrophy - Europe PMC

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Last Updated: 09 June 2022

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

Even though pain is a common condition recognized by more than half of the patients with DMD, the background Assessment of pain is not consistent, standardized, or well understood in patients with Duchenne muscular dystrophy. Face-to-face interviews were conducted using a structured questionnaire describing the pain frequency, length, vigor, location, aggravating/relieving factors, pain control, pain relief, pain phenotype, and functional ability. An increase in the frequency of pain and number of pain sites in individuals in the LNA stage has been reported. Pain relief in the LNA group was also found to be higher than in the other clinical stages. Conclusions With the improvement of the disease in patients with DMD, pain relief, aggravating/relieving factors, pain suppression, and pain interference have all changed.

Source link: https://europepmc.org/article/MED/35659210


Seated Outcome Measures in Children With Duchenne Muscular Dystrophy.

"Purpose": "Purpose" is the term used to describe disease prevalence in Duchenne muscular dystrophy's continuum. In boys with DMD, the feasibility of seated trunk strength was investigated by hand-held dynamometry and caregiver-reported subjective functional independence tests. Resulto Prospective, cross-sectional, observational study of 18 participants with DMD drawn from a pediatric muscular dystrophy clinic during routine clinical examination. Results All research participants, regardless of their walking status, were able to complete the seated function tests, proving their feasibility. Participants' ages were negatively associated with PEDI mobility and positively with HHD extension scores, as shown by HHD extension results. ".

Source link: https://europepmc.org/article/MED/35653235


Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.

"Objective": The aim of this research was to determine the validity of a disease model assessing ataluren's cost-effectiveness for the treatment of Duchenne muscular dystrophy. Patients' health status and quality of life were determined using the Health Utility Index, mortality, informal caregiving, and the potential benefit of early ataluren therapy in four states, including ambulatory, non-ambulatory, and full-time ventilation assistance. Patients with nmDMD typically receive day-to-day care/assistance, and that starting with ataluren treatment at 2 versus 5 years of age would be expected to prolong loss of ambulation by an additional two years, as well as the introduction of night-time and full-time ventilation by an additional three years, respectively.

Source link: https://europepmc.org/article/MED/35642753


Clinical Implications of Routine Monitoring of Pulmonary Function and Ventilation in Patients with Duchenne Muscular Dystrophy.

"Purpose: To investigate the effect of regular monitoring of pulmonary function and ventilation status on the introduction of non-invasive ventilation in patients who were routinely monitored before receiving NIV and those who were not. " Methods and methods This retrospective cohort study included participants with Duchenne muscular dystrophy (DIV) who first received NIV between 2010 and 2019. Hypoventilatory signs were more widespread and severe in the non-REG group at the time of initial ventilatory assistance than in the REG group at the same time. The average age of the non-REG group's initial ventilatory support was 2. 15 years older than that of the REG group's control group. Conclusions A continuous assessment of respiratory health and ventilatory status before the onset of ventilatory insufficiency is critical to minimize the likelihood of patients with DMD requiring emergency care due to ventilatory insufficiency. ".

Source link: https://europepmc.org/article/MED/35619582


Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy.

"Duchenne muscular dystrophy is a muscular disorder caused by DMD mutations that is characterized by neurobiological abnormalities due to dystrophin deficiency in the brain. " In which Dp140 is preserved or lacking, respectively, we investigated synaptic function in the presence or absence of brain Dp140. In mdx52 mice compared to those in wild-type and mdx23 mice, the ratio of excitatory postsynaptic currents, glutamatergic vesicle number in basolateral amygdala neurons, and glutamatergic transmission in medial prefrontal cortex-basolateral amygdala neurons was significantly reduced, compared to those in mdx52 mice. ".

Source link: https://europepmc.org/article/MED/35654209


Differential structural organization and gene expression regulatory networks of lamin A Ig fold domain mutants of muscular dystrophy

"Major majority missense mutations for autosomal dominant muscular dystrophies are present in lamin A's Ig fold domain. " How lamin A, which contributes to the formation of heterochromatin and euchromatin balance, renames the epigenetic markers in the formulation of chromatin states are still not well defined to draw any conclusions about lamin A-mediated muscular dystrophies. By biophysical and electron microscopy results, R453W, W514R, a result of two widely quoted Ig LMNA mutations in the first portion of this article, we discovered in-vitro group of full length lamin A proteins in the first part of this article. Both lamin A/C mutant cells were found in nucleoplasmic aggregates with reduced amounts at the nuclear envelope, according to the publication of specific epigenetic data such as H3K27me3, H3K36me3, and H3K36me3, which allowed the correlation of lamin A mutations on epigenetic mechanism. Our report also details the specific structural configurations of lamin A determined by the characteristics of itu2019s cooperating partners, which also specifies specific structural configurations of the lamin A determined by specific structural configurations of it's interacting partners.

Source link: https://europepmc.org/article/PPR/PPR499484


Interaction between mesenchymal stem cells and myoblasts in the context of facioscapulohumeral muscular dystrophy contributes to the disease phenotype.

"Facioscapulohumeral muscular dystrophy is a genetic disorder associated with ectopic expression of the DUX4 gene in skeletal muscle. " Muscle degeneration in FSHD is followed by muscle tissue regeneration with fat and connective tissue. The CXCR4-CXCL12 axis promotes mesenchymal stem cell migration in myoblasts. To investigate cell migration, differentiation, proliferation, and extracellular matrix formation, we used cell motility assays and coculture of MSCs with myoblasts. MSCs migration increased by 1. 6 percent in comparison to the nonconditioned medium, thanks to the growth medium that was conditioned by FSHD myoblasts. Compared to conventional myoblasts, FSHD myoblasts stimulated MSC proliferation 1. 5-2 times, while MSC presence hampered myoblast differentiation. MSCs increased collagen secretion by 2. 2-fold under inflammatory conditions, medium treated by FSHD myoblasts, boost collagen secretion by MSCs 2. 2-fold as compared to the nonconditioned medium, p 0. 03. MSCs and FSHD myoblasts collaborate on several key aspects of FSHD pathophysiology, according to MSC's "interaction" in various aspects of FSHD pathophysiology.

Source link: https://europepmc.org/article/MED/35621301


Breathing in Duchenne muscular dystrophy: Translation to therapy.

"Duchenne muscular dystrophy is an X-linked neuromuscular disorder caused by a deficiency in dystrophin, a structural protein that maintains muscle when contraction. " Muscle degeneration and respiratory disease in neuromuscular disease is a result of changes at multiple points of the respiratory control network, including sensory and motor pathways. As a result of this pathology, respiratory disease is the most common cause of premature death in DMD patients. Currently available treatments for DMD respiratory insufficiency attenuate respiratory symptoms without entirely reversing the underlying pathophysiology. This review summarizes original research findings on the pathophysiology of DMD disease in humans and animal models, the medical treatment of symptoms, and gene-based therapeutic approaches demonstrated by preclinical animal experiments. DMD-associated respiratory insufficiencies' treatment options currently in clinical use only attenuate respiratory symptoms without changing the underlying pathology of DMD-associated respiratory insufficiencies. ".

Source link: https://europepmc.org/article/MED/35620971


Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy.

"The muscular dystrophies are progressive muscle wasting diseases illustrated by persistent muscle degeneration that cannot be adequately addressed by satellite cell-driven regeneration. " Here we devised a genetic path to mediate satellite cell death in dystrophic mouse models to see how satellite cells influence disease course. In fact, MyoD's re-expression in wildtype adult skeletal muscle aids in membrane integrity and promotes histopathology, while MyoD's involvement in a mouse model of muscular dystrophy improved membrane stability, while MyoD's inhibition in a mouse model of muscular dystrophy improved membrane stability and increased membrane stability. In chronic dystrophic skeletal muscle, satellite cell activation and the fetal gene program are ineffective.

Source link: https://europepmc.org/article/MED/35618700


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

Patients with Duchenne muscular dystrophy have been denied access to on-site rehabilitation due to the COVID-19 pandemic. " Telerehabilitation can be a safe option for these patients to maintain muscle strength and functional status. Patients and methods DMD patients were randomly divided into telerehabilitation and videoexercise groups. After treatment and 387. 76 m before surgery, the 6MWT of the telerehabilitation company was 381. 46 m before diagnosis and 387. 90 m after surgery and 313. 77 m after rehabilitation in a video group was 114. 55 after treatment. The telerehabilitation group's neck length, bilateral knee flexion, and left shoulder flexion, bilateral ankle flexion and extension, bilateral ankle brace construction, bilateral ankle dorsiflexion, and bilateral ankle dorsiflexion, bilateral ankle flexion, bilateral ankle dorsiflexion, and left ankle dorsiflexion, bilateral ankle flexion, and left ankle dorsiflexion, as well as left ankle flexion, bilateral ankle bracement, bilateral ankle flexion, bilateral knee flexion, ankle flexion, bilateral knee flexion, bilateral knee flexion, bilateral knee flexion, bilateral knee flexion, bilateral knee flexion, bilateral knee flexion, bilateral knee flexion, bilateral ankle brace, and ankle dorsiflexion, bilateral ankle dorsiflexion, bilateral ankle brace, bilateral ankle brace, bilateral knee flexion, and ankle flexion, and ankle dorsiflexion, and ankle brace, and ankle flexion, and ankle flexion, and ankle dorsiflexion, and extension, and ankle flexion, and ankle dorsiflexion, and extension, and ankle dorsi Conclusions A telerehabilitation strategy is more effective in muscle strengthening than a video-based home exercise, but none of the programs improved functional outcomes in ambulatory patients with DMD. ".

Source link: https://europepmc.org/article/MED/35616780

* 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