“Muscular Dystrophy” Science-Research, September 2021 — summary from MedlinePlus, ClinicalTrials GOV, PubMed, NCBI Gene, Springer Nature, DOAJ and Europe

MedlinePlus Genetics — summary generated by Brevi Assistant

Facioscapulohumeral muscular dystrophy is a condition characterized by muscular tissue weakness and wasting. Weak point in muscular tissues around the eyes can protect against the eyes from shutting totally while an individual is asleep, which can result in completely dry eyes and other eye problems. LMNA-related genetic muscular dystrophy is a problem that mostly influences muscles utilized for movement. People with L-CMD also have an enhanced risk of heart rhythm irregularities. Limb-girdle muscular dystrophy is a term for a group of illness that trigger weakness and wasting of the muscular tissues in the legs and arms. As the problem advances, people with limb-girdle muscular dystrophy might ultimately require wheelchair assistance. Oculopharyngeal muscular dystrophy is a genetic condition defined by muscle mass weak point that starts in the adult years, typically after age 40. Individuals with oculopharyngeal muscular dystrophy regularly have weak point in the muscle mass near the center of the body, especially muscular tissues in the shoulders, top legs, and hips. Stiff back muscular dystrophy is a kind of hereditary muscular dystrophy. The features of stiff back disorder usually show up at a younger age in people with RSMD than in those with various other muscle mass problems. Tibial muscular dystrophy is a condition that impacts the muscle mass at the front of the lower leg. A small portion of people with tibial muscular dystrophy have a rather various pattern of symptoms and signs than those described over.

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ClinicalTrials GOV — summary generated by Brevi Assistant

This is a double-blind, placebo-controlled, multi-center research study to evaluate the effectiveness and safety and security of SRP-4045 and SRP-4053. All individuals will undertake a muscle biopsy at baseline and a 2nd muscular tissue biopsy either at Week 48 or Week 96. The study will assess the efficiency of PF-06939926 genetics treatment on ambulatory function while additionally checking its safety. Around 99 kids with DMD will be registered and arbitrarily designated to a couple of teams: about 2 thirds will be in Cohort 1 and get genetics therapy at the beginning of the research; about one third will remain in Cohort 2 and receive sugar pill at the beginning of the study and obtain gene therapy after one year, as long as it continues to be risk-free to do so. Present techniques of measuring the response to new therapies for muscular dystrophies include the assessment of little items of muscle cells called biopsies. The purpose of this research study is to learn more about the possibility of identifying and gauging the task and seriousness of muscular dystrophies by taking a look at a pee example and a blood sample, and some muscular tissues in the legs and arms making use of tests called ultrasound and electrical insusceptibility myography; both examinations are non-invasive and painless. Purposes: the aim of this method is to identify biomarker and medical correlates of modifications in the barrier function of skeletal muscle mass membrane before and after routine motor function testing in patients with one of the Fragile Sarcolemmal Muscular Dystrophies. End result procedures: enhanced change in standard degrees of proteins that are released into the blood from damaged skeletal muscle mass, such as creatine kinase, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, troponins, and myoglobin in lotion, adjustments in inflammation pens, distributing microRNAs and imaging research studies to determine effective biomarkers for use in future medical tests.

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PubMed — summary generated by Brevi Assistant

Duchenne muscular dystrophy, triggered by mutations in the X-linked dystrophin genetics, is a deadly neuromuscular condition. Editing and enhancing of exon 51 in cardiomyocytes originated from human stimulated pluripotent stem cells revealed a strong preference for exon reframing via a two-nucleotide deletion. Facioscapulohumeral muscular dystrophy is triggered by chromatin relaxation of the D4Z4 repeat resulting in misexpression of the D4Z4-encoded DUX4 gene in skeletal muscle mass. Among the key hereditary needs for the steady manufacturing of full-length DUX4 mRNA in skeletal muscle is a practical polyadenylation signal in exon three of DUX4 that is utilized in somatic cells. Pundit special needs is a neurodevelopmental condition specified by below-average intelligence accompanied by flexible actions shortages. In this research study, we created induced pluripotent stem cells from outer blood mononuclear cells from a typical individual and DMD patients with and without ID to recognize ID-specific useful and molecular abnormalities. Duchenne muscular dystrophy is an incurable disease, triggered by the mutations in the DMD genetics, inscribing dystrophin, an actin-binding cytoskeletal healthy protein. We determined to verify the theory that simvastatin may be considered a possible restorative agent in DMD. LAMA2-related or merosin-deficient hereditary muscular dystrophy comes from a group of muscle mass diseases with an overlapping diagnostic spectrum. There is evidence to suggest that whole-body muscle MRI can end up being a helpful contributor to the differential diagnosis of children with merosin deficient CMD. Duchenne muscular dystrophy is a fatal neuromuscular problem that occurs as a result of suspending anomalies in DMD genetics, causing muscular dystrophy. Herein, we describe a situation of a late DMD patient and his instant female family participants, who all lug same DMD anomaly and exhibited different levels of symptoms.

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NCBI Gene — summary generated by Brevi Assistant

The healthy protein encoded by this gene belongs to the ferlin family and is a skeletal muscle mass healthy protein discovered linked with the sarcolemma. Details anomalies in this gene have been revealed to cause autosomal recessive limb girdle muscular dystrophy type 2B as well as Miyoshi myopathy. This gene inscribes a huge, rod-like cytoskeletal healthy protein which is located at the internal surface area of muscle fibers in skeletal and cardiac muscle mass. Mutations in the human gene reason Duchenne and Becker Muscular Dystrophies and a type of heart condition called DMD-associated dilated cardiomyopathy. Facioscapulohumeral muscular dystrophy is a common congenital disease of muscle. The variety of repeat devices varies from 10 to even more than 100 in the population, nonetheless, in FSHD patients only 1–10 repeat systems is observed since of a deletion of an important number of these units. This gene belongs to the subfamily of ubiquitously revealed heterogeneous nuclear ribonucleoproteins. The hnRNP healthy proteins have distinctive nucleic acid binding properties. The nuclear lamina contains a two-dimensional matrix of healthy proteins located beside the internal nuclear membrane layer. Throughout mitosis, the lamina matrix is reversibly dismantled as the lamin proteins are phosphorylated.

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Springer Nature — summary generated by Brevi Assistant

History The diagnosis of facioscapulohumeral muscular dystrophy can be testing in patients not showing the timeless phenotype or with irregular scientific functions. Verdicts We determined MRI patterns that revealed a high diagnostic power in without delay discriminating FSHD from various other muscle disorders, with equivalent performance regardless of irregular or normal medical functions. History Cardiomyopathy is the leading cause of death in Duchenne muscular dystrophy, but research studies recommend heart failure biomarkers correlate inadequately with cardiomyopathy severity. DMD medical trials have utilized troponin I as a biomarker of toxicity, but it is unclear if asymptomatic DMD patients have elevated cTnI. Background Duchenne muscular dystrophy is an incurable disease, triggered by the anomalies in the DMD genetics, inscribing dystrophin, an actin-binding cytoskeletal protein. We decided to verify the hypothesis that simvastatin may be taken into consideration a prospective healing agent in DMD. Duchenne muscular dystrophy is a rare genetic problem usually providing with muscular tissue weakness and decreased tone of trunk and lower extremities. Sonoelastography might act as an useful action for diagnosis and monitoring medical results for DMD. Background Duchenne muscular dystrophy is an uncommon genetic neuromuscular problem, which can lead to passing due to illness progression. Conclusion Individuals with nonsense anomaly Duchenne muscular dystrophy experience a series of interrelated symptoms and practical issues which impact their broader health-related high quality of life. Muscular dystrophies are a varied group of severe problems identified by boosted skeletal muscle feebleness. Skeletal muscle swelling and fibrosis are hallmarks of a number of skeletal muscular tissue diseases, including MDs.

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DOAJ — summary generated by Brevi Assistant

Intro: Congenital muscular dystrophy is a team of early-onset disorders with medical and hereditary diversification. Final thoughts: Our case even more shows that ITGA7 mutation is connected to CMD. Duchenne muscular dystrophy is an X-linked recessive condition caused by a mutant dystrophin healthy protein. Metformin also decreased the expression of CXCL12 and CXCR4 in mdx mice. Duchenne muscular dystrophy is the most typical form of muscular dystrophy throughout childhood. We aimed to establish the association between intelligence level and anomaly location in DMD genetics in Serbian patients with DMD. The study explores the possibility of applying appearance evaluation for screening Duchenne Muscular Dystrophy treatments. The work is based upon the Golden Retriever Muscular Dystrophy canine model, in which 3 stages of canine growth and/or dystrophy growth are determined: the first phase, the second phase, and the third stage. Abstract Background Duchenne muscular dystrophy is an incurable disease, brought on by the mutations in the DMD gene, encoding dystrophin, an actin-binding cytoskeletal protein. Consequently, we decided to confirm the hypothesis that simvastatin might be considered a prospective restorative agent in DMD. Just recently, several research tasks in the Netherlands have concentrated on the advancement of wearable robotic exoskeletons for individuals with Duchenne muscular dystrophy. While disability researches have greatly declined the individual version of handicap, the engineering sciences appear to still situate disability in a person’s body, not questioning their own problematization of handicap.

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Europe PMC — summary generated by Brevi Assistant

Large pet versions for Duchenne muscular dystrophy are vital for preclinical assessment of novel analysis procedures and treatment strategies. Our breeding mate of DMD Δ52 pigs and standardized cells databases from DMD Y/- pigs, DMD +/- carriers, and WT littermate controls provide vital resources for researching DMD disease mechanisms and for screening unique analysis procedures and treatment methods. Duchenne muscular dystrophy is an X-linked recessive condition created by a mutant dystrophin protein. Metformin additionally lowered the expression of CXCL12 and CXCR4 in mdx mice. History The medical diagnosis of facioscapulohumeral muscular dystrophy can be testing in patients not presenting the timeless phenotype or with atypical professional functions. Results The combination of trapezius participation and reciprocal subscapularis muscle sparing attained the finest analysis accuracy with 0.90 [0.85–0.94] level of sensitivity and 0.88 [0.80–0.93] specificity. History Duchenne muscular dystrophy is an incurable condition, triggered by the mutations in the DMD genetics, encoding dystrophin, an actin-binding cytoskeletal protein. Therefore, we decided to confirm the theory that simvastatin might be taken into consideration a potential restorative agent in DMD. Goals To examine the result of trunk training on trunk control, arm, and pulmonary function in youngsters with Duchenne muscular dystrophy. The study hall worked out with the trunk-oriented workout program and the standard exercise program, whereas the control team undertook the standard workout program for eight weeks. Duchenne muscular dystrophy is a fatal neuromuscular disorder that occurs due to suspending mutations in DMD gene, causing muscular dystrophy. Here, we describe an instance of a late DMD patient and his prompt women family participants, that all lug same DMD anomaly and showed diverse degrees of signs.

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