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Becker Muscular Dystrophy - DOAJ

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Last Updated: 03 August 2022

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Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach Distrofia muscular de Duchenne e Becker: abordagem molecular e imuno-histoquímica

Mutations in the dystrophin gene can cause muscular dystrophy and Becker muscular dystrophy and Becker muscular dystrophy. We analyzed 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 85% of the DMD cases and in all BMD cases, deletions were discovered in 81. 5% of the DMD cases and in all the BMD cases. Dytrophin deficiency was present in the cases without deletions, which included the sole woman in the study with DMD. Immunohistochemistry analysis continues to be the most specific way to diagnose DMD/BMD, and it should be used when no exon deletions are present in the blood's dystrophin gene. DMD em 81,5%, todos BMD em todos BMD, todos os BMD, detessanto tinham deficiona, including a mulher com DMD, according to tinham deficiency com DMD, tinham encontradas deleu00ef5es 81,5%, including a em e em 81, em e os e os e os etradas dele etradas tradas e os e tradas DMD em etradas delos deleu00em e.

Source link: https://doi.org/10.1590/S0004-282X2007000100016


Stable-Isotope Dilution GC–MS Measurement of Metformin in Human Serum and Urine after Derivatization with Pentafluoropropionic Anhydride and Its Application in Becker Muscular Dystrophy Patients Administered with Metformin, l -Citrulline, or Their Combination

After six weeks of supplementalation with metformin or l -citrulline, followed by a six-week supplementation with 3 u00d7 500 mg/d l -citrulline, a baseline, and a six-week supplementation with 3 g d7 500 mg/d l -citrulline was collected at baseline. Both groups' metformin levels in the serum and urine were very low in At Visit I. At Visit II and Visit III, metformin concentrations in the serum and urine of the patients who first received metformin were higher. At Visit III, the metformin concentration in the serum and urine samples of the patients who first took l-citrulline was higher at Visit III. Metformin's serum and urine samples were marginally lower in the CITR group at Visit III, which was insignificantly smaller.

Source link: https://doi.org/10.3390/molecules27123850


Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy

The aim of this research was to determine the effect of an oral glucose tolerance test in adult males with Becker muscular dystrophy and Duchenne muscular dystrophy, as well as Duchenne muscular dystrophy and Duchenne muscular dystrophy, and Duchenne muscular dystrophy, and Tissue muscular dystrophy, and Duchenne muscular dystrophy, as well as other differences in the glucose response, as well as the ability to determine whether body structure plays a role in any variation in the glucose tolerance The fat free mass in relation to body mass and body fat was determined by bioelectric impedance. After ingestion of glucose, blood glucose increased in MD groups than in controls at 60, 90, and 120 mins. To enable early detection of impaired glucose tolerance, adults with BMD and DMD are encouraged to perform regular glucose tolerance assessments.

Source link: https://doi.org/10.3390/nu10121947


Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy

Methods: Thirty four female carriers and 33 age-matched healthy female controls were recruited to determine whether serum myomiRs has diagnostic value for finding female DMD/BMD carriers with normal or elevated CK. Both seven myomiRs' analysis, miR-133b, miR-1, miR-208b, and miR-133a indicated that the area under the curve for miR-499, miR-133b, miR-1, miR-208b, and miR-133a exceeded 70%, and miR-206 and miR-208a exceeded 60%, and miR-208a showed that the area under the curve for miR-206 and miR-206a DMD/BMD coding methods were considered independent predictors of female carriers' presence in the multivariable regression analysis scheme, with MiR-133b and miR-499 being two common biomarkers for female carriers with DMD/BMD. Female carriers have improved diagnostic value when compared to either CK or no separate miRNA.

Source link: https://doi.org/10.3389/fneur.2020.563609


Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

We have reviewed the deletion pattern among Duchenne/Becker muscular dystrophy patients in Gujarat. Moreover, in this study, we also correlated the same with reading frame rule. Materials and Methods: A total of 88 D/BMD patients attending our Gujarat, India centers were included in this pilot study. D/BMD patients were diagnosed by multiplex-PCR. A number of 65 out of 88 patients had a deletion in the dystrophin gene, which caused the deletion of the dystrophin gene. The exon 50 was the most common deletion in our survey. According to the average age of DMD and BMD, it was 4. 09 1. 10. 6 and 7. 14 years, respectively. Mean creatine phosphokinase, lactate dehydrogenase, and myoglobin levels in patients, were elevated in comparison to controls. When deletion detection was unsuccessful, addition to CPK, LDH, and myoglobin is a good substitute.

Source link: https://doi.org/10.4103/0972-2327.138508


Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach

Early diagnosis of cardiac disease can result in the establishment of heart failure therapy and extended life span in these patients. Cardiovascular magnetic resonance characterization can help identify cardiac involvement by presenting early scar formation that may appear before the onset of wall motion abnormalities. CMR revealed abnormal findings in 12 of 15 patients, with 10 of them having reduced LVEF and nine others reporting rWMA. In 11 of 15 patients with a median myocardial damage extent of 13. 0%, an age-related rise, and a typical subepicardial distribution pattern in the inferolateral wall, LGE-imaging reported Myocardial damage as determined by LGE-imaging. Based on CMR findings, Ten patients were in need of medical heart failure therapy. Conclusions Cardiac's involvement in patients with BMD is underdiagnosed by echocardiographic techniques, resulting in heart failure under treatment.

Source link: https://doi.org/10.1186/1532-429X-10-50


Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study

Our results revealed that in young patients, lower SCRN levels were directly associated with elevated disease risk, increased disease severity, and that SCRN blood counts were the highest in patients with Duchenne muscular dystrophy and the lowest in patients with Duchenne muscular dystrophy, and were significantly higher in patients with out-of-frame mutations than in patients with out-of-frame mutations. These findings show that SCRN could be a useful biomarker for separating DMD from BMD in patients aged u22643 years, and could help with the selection of appropriate treatment plans.

Source link: https://doi.org/10.3389/fneur.2017.00196

* 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