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Muscular Dystrophy - DOAJ

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Last Updated: 09 June 2022

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Identification of Auxiliary Biomarkers and Description of the Immune Microenvironmental Characteristics in Duchenne Muscular Dystrophy by Bioinformatical Analysis and Experiment

"BackgroundDuchenne muscular dystrophy is a genetic muscle disease associated with progressive muscle loss associated with persistent inflammation and chronic inflammation. Based on Gene Expression Omnibus results, we sought to identify auxiliary biomarkers and further characterize the immune microenvironment in DMD. MethodsDifferentially expressed genes were identified in this research. In DMD, we also conducted single-sample gene-set enrichment analysis to determine the percentage of tissue-infiltrating immune cells to determine the inflammatory state of DMD. ResultsIn total, 182 downregulated genes and 263 upregulated genes were found. The infiltration of activated B cells, CD56dim natural killer cells, and type 17 T helper cells was significantly higher in DMD compared to normal muscle tissue, according to our analysis. The infiltration of immune cells into the muscle microenvironment may have a major effect on DMD's origins and occurrence. ".

Source link: https://doi.org/10.3389/fnins.2022.891670


Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

"Abstract Background One of the most common and effective ways to detect mutations in genes is PCR amplification followed by direct sequencing. cvm amplification is one of the most common and effective methods for finding mutations in genes. The procedure of designing PCR assays has traditionally shifted to individual assay characteristics rather than focusing on matching conditions for a series of assays. Only a select group of laboratories that perform comprehensive gene panels is a search of GeneTests for sequencing analysis of the entire sequence of genes that are known to cause muscular dystrophies. Using computer aided design tools, the hypothesis of the experiment was that a complete set of universal assays could be created to amplify and sequence any gene or family of genes.

Source link: https://doi.org/10.1186/1471-2156-10-66


Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?

"Will low-cost, simple assessments help in the diagnosis of Duchenne muscular dystrophy?" says the author. 128 Duchenne muscular dystrophy patients and 344 healthy children were analyzed, with identical age groups in age groups. According to the age group, Duchenne muscular dystrophy, the means of administering the motor tests has increased gradually after 7 years of age. Healthy children reach their maximum motor capacity at 6 years old and then normalize their times. The time to rise exhibited a p-value 0. 05 and a strong link in all age groups, from 9 years to running 10 meters in 5 years, with time to walk ten meters from 9 years and a ten-meter increase from 5 years. Time to rise, at 2 s; time to walk 10 meters, 5 s; and time to run 10 meters, 4 s. Conclusions: Time to rise is a powerful and simple instrument in the diagnosis of neuromuscular diseases such as Duchenne muscular dystrophy, a previously incurable disease with new perspectives on treatment. A tempo de correr 10 metros doess 5 anos, with levantar apresentou p-valor 0,05 em todas as faixas etu00e3o em todas as faixas etu00e3o, tempo de levantar acerb etu00e01rias a partir de 9 anos etu00e e tempo de correr 10 metros as e t as p e o e a e o e et e et e etetas et eta as etu00em to 100% sensibilidade foram definidos; tempo de levante aos 2 segundos; tempo de andar, 5 segundos; tempo de correr 10 metros, 4 segundos.

Source link: https://doi.org/10.1016/j.jped.2019.02.003


Longitudinal Alterations in Gait Features in Growing Children With Duchenne Muscular Dystrophy

"Prolonging ambulation is a vital treatment goal in children with Duchenne muscular dystrophy. Using follow-up 3DGA sessions, we investigated longitudinal changes in the 31 predefined gait features in growing boys with DMD in growing boys with DMD. Both a longitudinal and a cross-sectional perspective were used to investigate the evolution in gait characteristics in the same group of children with DMD from both a longitudinal and a cross-sectional perspective. The boys with DMD differed from the TD boys with 17 gait characteristics at baseline. Moreover, 21 gait features progressively as following-up the same boys with DMD and 25 gait characteristics produced a significant cross-sectional baseline age-effect. "The new research quantitatively outlined the longitudinal changes in gait characteristics in boys with DMD, thereby providing detailed insight into how DMD gait deteriorates. ".

Source link: https://doi.org/10.3389/fnhum.2022.861136


Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review

A 2-month-old boy with elevated serum CK levels and low GAA activity was eventually diagnosed with Duchenne muscular dystrophy, according to CASA's report. Case PresentationCase 1 patient was a 2-month-old boy who had an elevated serum CK level and poor GAA levels and low GAA production. The second child in Case 2 was also a 2-month-old boy with a significant rise in CK levels, which was also a case 2 patient. ConclusionspE disease is usually found in infants with elevated CK levels, with the exception of patients with high GAA impairment alleles being heterozygous. Pdeficiency alleles can lead to low GAA levels, but not Pompe disease. Genetic testing may help to identify patients with GAA pseudo deficiency alleles from patients with several muscular disorder diseases, such as DMD. ".

Source link: https://doi.org/10.3389/fped.2022.855510


Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy

"Objective: The North Star Ambulatory Assessment is a standardized 17-item functional rating scale and widely used to measure motor function in boys with Duchenne muscular dystrophy. Method: Ten ambulant DMD boys were selected from the electronic hospital registry. Means for clinic visit one were 22. 6 and consult visit two 21. 8 were respectively 21. 8. The two physiotherapists' ratings were 20. 6 for physiotherapist 1 and 20. 6 for physiotherapist 2 and 20. 6 for physiotherapist 2. The mean decline in scores from a clinic visit to video review was 2. 0. Conclusion: The study's findings indicate that video NSAA is partially viable and reliable. ".

Source link: https://doi.org/10.3390/children9050728


Myxomavirus Serp-1 Protein Ameliorates Inflammation in a Mouse Model of Duchenne Muscular Dystrophy

"Duchenne muscular dystrophy is an X-linked disease affecting 1 in 3500 males, which is characterized by muscle loss and wasting in early childhood, as well as early adulthood loss and death. " We investigated whether pegylated Serp-1 therapy could reduce chronic inflammation in a mouse model for Duchenne muscular dystrophy. No change was observed between the M2a macrophage and total T cell populations, according to the M2a macrophage and overall T cell population. These results show that therapy with this new class of poxvirus-derived immune-modulating serpin has the ability to reduce DMD pathology and muscle regeneration.

Source link: https://doi.org/10.3390/biomedicines10051154


Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter study

"Abstract Background The transient receptor potential cation channel subfamily V member 2 is a stretch-sensitive calcium channel. " TRPV2 inhibition in animal models of cardiomyopathy and muscular dystrophy, was highly beneficial against heart failure and motor function. Transilast, a TRPV2 inhibitor, reduced brain natriuretic peptide levels in two MD patients with advanced heart failure in two MD patients. Our previous pilot study showed that tranilast, a TRPV2 inhibitor, reduced brain natriuretic peptide levels in two MD patients with advanced heart failure. Despite receiving standard cardioprotective therapy, the study recruited MD patients with advanced heart disease whose serum BNP levels were > 100 pg/mL. Based on a previous multicenter study of carvedilol findings in a mean population u0394log of 0. 18, the null hypothesis was established. TRPV2 expression on peripheral blood mononuclear cell surface, cardiac arrest, total mortality, left ventricular fractional shortening, human atrial natriuretic peptide, cardiac troponin T, creatine kinase, and pinch strength were also assessed. TRPV2 expression on the mononuclear cell surface was elevated at baseline and reduced after therapy, and decreased after therapy. BNP, human atrial natriuretic peptide, and fractional shortening stayed stable, suggesting a shield against heart failure progression. U2212 0. 2 and significantly lower than that in the null hypothesis in the per protocol set group. [BNP] was u0212 0. 2 and significantly smaller than that in the null hypothesis. And in MD patients with advanced heart failure, Tranilast is safe and effective in blocking TRPV2 expression. The trial was registered in the UMIN Clinical Trials Registry [March 30, 2018] and the Japan Registry of Clinical Trials [November 12, 2021]. ".

Source link: https://doi.org/10.1186/s13023-022-02352-3


A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

"We found a novel nonsense mutation in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon, which may have had a pathogenic effect against dystrophin in our patient's muscle cell membranes," says the author. "We have discovered a novel nonsense mutation in DMD that will extend the pathogenic mutation spectrum for Duchenne muscular dystrophy" (Duchenne muscular dystrophy).

Source link: https://doi.org/10.1177/2050313X221100881


Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy

"Duchenne muscular dystrophy is a muscle wasting disorder caused by mutations in the DMD gene," says the author. We then investigated the possibility of transplanting full-length dystrophin in vivo by injecting DMD myoblasts that had been corrected by this nebulized vector intramuscularly into an immunodeficient DMD mouse model. In 93. 8 percent u00b1 2. 1 percent of the myotubes in vitro, these lentivirally treated DMD myoblasts effectively reconstituted full-length dystrophin expression. This research is the first step forward in current cell-mediated gene therapy (DMD) efforts that aim to restore full-length dystrophin expression in skeletal muscle.

Source link: https://doi.org/10.1016/j.omtm.2022.04.015

* 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