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Becker Muscular Dystrophy - Crossref

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Last Updated: 03 July 2022

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The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

Introduction: The origins of Becker's muscular dystrophy evidence for neurocognitive and behavioral comorbidity is growing. In this research, we sought to describe the neurocognitive and behavioral characteristics of a Dutch adult cohort of BMD patients, as well as motor function outcomes. Methods: 28 adult BMD patients were included in the study. The results were compared to normative findings and correlated with disease severity as determined by the 10-meter run/walk test and Results of the Upper Limb version 1. 2. Despite frequent grade repeating during primary or secondary school, 15 patients maintained a high academic level. Conclusions: This cohort of adult BMD patients has minor cognitive impairments but no significant behavioral disorders. Processing speed and verbal memory, as well as the high incidence of grade repeating in primary and secondary school, indicate that these little differences played a role in childhood.

Source link: https://doi.org/10.3233/jnd-210770


Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes

A G367A mutation in the short stature homeobox containing gene found in the Xp22. 3 region was found in the brother with normal height, according to Whereas in the short brother molecular investigation, but no abnormalities were observed in the brother with normal height.

Source link: https://doi.org/10.1159/000111816


Clinical Characteristics of Aged Becker Muscular Dystrophy Patients with Onset after 30 Years

To clarify the clinical characteristics of elderly patients with Becker muscular dystrophy, the condition of Becker muscular dystrophy was studied for more than 50 years. No apparent hypertrophy in their calves, which is known as one of the most typical clinical signs in the pediatric BMD patients. In all patients, serum creatine kinase levels were elevated, but not significantly so. Some BMD patients are free of muscular symptoms before their 50s, and some are still self-supporting in their 60s or 70s. We emphasize this.

Source link: https://doi.org/10.1159/000008089


Progression of Cardiac Involvement in Patients with Myotonic Dystrophy, Becker’s Muscular Dystrophy and Mitochondrial Myopathy during a 2-Year Follow-Up

The purpose of this prospective noninvasive follow-up study, Becker's muscular dystrophy and mitochondrial myopathy, was to determine if CI and neurologic dysfunction are related and how often cardiac investigations should be carried out. CI improved by 1 year in 50% of patients with MD, 0% of patients with BMD, and 27 percent of patients with MMP were with MMP. CI and neurologic impairment were not related to each other, and neurologic abnormalities were not related.

Source link: https://doi.org/10.1159/000006840


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

GC spectra of the PFP derivatives contain a single ion with mass-to-charge ratios of m/z 383 for metformin-d0 and m/z 389 for metformin-d6. After six weeks of metformin or l-citrulline supplementation, followed by a six-week supplementation with 3 u00d7 500 mg/d l-citrulline, a baseline l-citrulline was obtained, a baseline l-citrulline, and a six-week supplementation with 3 u00d7 500 mg/d l-citrulline was collected at baseline, a baseline l-citrulline a l-citrulline supplementation l-citrulline supplementation with l-citrulline l-l-citrulline l-citrulline l-citrulline. In both groups, the metformin concentration in the serum and urine was very low. At Visit II and Visit III, the metformin levels in the serum and urine of the patients who first took metformin were higher. At Visit III, the metformin level in the serum and urine samples of the patients who first took l-citrulline was higher at Visit III. In the CITR group at Visit III, metformin's serum and urine samples were marginally lower.

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

* 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