“Muscular Dystrophy” Science-Research, January 2022 — summary from MedlinePlus Genetics, ClinicalTrials.gov, PubMed, NCBI Gene, Springer Nature, DOAJ and Europe PMC

MedlinePlus Genetics — summary generated by Brevi Assistant

Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and losing. The indications and signs and symptoms of facioscapulohumeral muscular dystrophy usually show up in adolescence. LMNA -associated hereditary muscular dystrophy is a problem that largely impacts muscular tissues used for activity. People with L-CMD have an increased risk of heart rhythm abnormalities. Limb-girdle muscular dystrophy is a term for a team of conditions that trigger weak point and wasting of the muscles in the legs and arms. As the problem advances, people with limb-girdle muscular dystrophy might eventually require wheelchair support. Oculopharyngeal muscular dystrophy is a genetic condition defined by muscle mass weakness that starts in adulthood, commonly after age 40. People with oculopharyngeal muscular dystrophy regularly have weak point in the muscular tissues near the center of the body, specifically muscle mass in the shoulders, upper legs, and hips. Stiff spine muscular dystrophy is a kind of hereditary muscular dystrophy. The features of rigid back syndrome normally show up at a more youthful age in people with RSMD than in those with various other muscular tissue conditions. Tibial muscular dystrophy is a condition that impacts the muscle mass at the front of the lower leg. Later in life, about one third of people with tibial muscular dystrophy experience light to moderate difficulty with walking due to the fact that weak points in various other leg muscles.

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ClinicalTrials.gov — summary generated by Brevi Assistant

This is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, rising tolerability, safety and security and dose research study of a single intravenous mixture of PF-06939926 in non-ambulatory and ambulatory subjects with Duchenne muscular dystrophy. A total of about 35 subjects will obtain PF-06939926, and these will consist of both ambulatory and non-ambulatory subjects. The research will analyze the effectiveness of PF-06939926 genetics treatment on ambulatory function while also monitoring its safety. Roughly 99 children with DMD will be enlisted and arbitrarily designated to a couple of teams: around two thirds will remain in Cohort 1 and get genetic therapy at the beginning of the research study; approximately one third will be in Cohort 2 and obtain sugar pills at the beginning of the research and receive genetics therapy after one year, as long as it stays safe to do so. The National Registry of DM and FSHD Patients and Family Members was established to create a link between patients and researchers in order to advertise research on these unusual diseases. A Medical Records Release Form, which enables us to contact your medical professional and get records regarding your medical diagnosis. Glucocorticoid steroids are a pillar of treatment for Duchenne Muscular Dystrophy, where they have been revealed to extend motion in for DMD in arbitrary medical trials Gloss et al. Using GC steroids for other types of muscular dystrophy, consisting of Becker Muscular Dystrophy and the Limb Girdle Muscular Dystrophies is not thought about standard of care and has insufficiently been examined by randomized professional tests. International standards advise routine physical activity for boys with DMD, and involvement in exercise plays an essential function in the monitoring. The existing physical task degree among Norwegian DMD’s are unknown, and physical activity enrollment and self-reported set of questions will be checked out in this research. This job will target up to 25 ambulatory kids with DMD aged 7–12 years. Since the vascular effect of tadalafil is prompt, we will validate that the medicine target is valid target in reduced extremities by analyzing the adjustment in post-exercise microvascular perfusion using Blood Oxygen Level-Dependent MRI or change in post-exercise hyperemia using Doppler ultrasonography.

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PubMed — summary generated by Brevi Assistant

Oculopharyngeal muscular dystrophy is a late-onset condition defined by progressive weakness and deterioration of specific muscular tissues. Importantly, improvement of muscular tissue framework and function in the visibility of UPS mutants is not associated with the levels of PABPN1 gathering, however is connected to lowered destruction of muscular tissue proteins. In Becker muscular dystrophy, muscle mass weak point proceeds reasonably slowly, with a highly variable rate between patients. We analyzed if temporal rise of fat fraction in BMD complies with a sigmoidal trajectory and whether fat fraction at standard could, as a result, predict FF increase after 2 year. Heart disease has become a leading reason for death in Duchenne muscular dystrophy in the present era. Pediatric cardiology providers within ACTION were surveyed regarding their approaches to cardiac care in DMD. In Duchenne muscular dystrophy, diaphragm muscle mass dysfunction leads to respiratory insufficiency, a leading reason of fatality in patients. This research study disclosed adjustments in diaphragm ECM framework and auto mechanics during condition progression in the mdx muscular dystrophy mouse phenotype, highlighting the demand to consider the duty of collagen companies on diaphragm muscular tissue function. Subduing mineralocorticoid receptor task with MR antagonists is healing for persistent skeletal muscle pathology in Duchenne Muscular Dystrophy mouse models. To define the contributions of myeloid MR in skeletal muscular tissue function and disease, we did parallel assessments of muscular tissue pathology, cytokine levels and myeloid cell populations arising from myeloid MR genetic knockout in muscular dystrophy and in severe muscle injury. Duchenne muscular dystrophy, a deadly musculoskeletal disorder, is related to neurodevelopmental problems and cognitive impairment brought on by brain dystrophin shortage. Thus, the DE50-MD dog is a translationally-relevant pre-clinical model to research the repercussions of Dp427 deficiency in the brain and to create restorative methods for the neurological sequelae of DMD.

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NCBI Gene — summary generated by Brevi Assistant

The healthy protein inscribed by this gene comes from the ferlin family and is a skeletal muscle mass healthy protein located related to the sarcolemma. Specific anomalies in this gene have been revealed to create autosomal recessive limb band muscular dystrophy type 2B as well as Miyoshi myopathy. This gene inscribes a big, rod-like cytoskeletal healthy protein which is found at the internal surface area of muscle mass fibers in heart and skeletal muscles. Anomalies in the human gene reason Duchenne and Becker Muscular Dystrophies and a form of heart illness called DMD-associated dilated cardiomyopathy. Facioscapulohumeral muscular dystrophy is a typical genetic disease of muscle. Patients with FSHD have a chromosomal reformation within the subtelomeric region of chromosome 4. This genetics comes from the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins. The hnRNPs are RNA binding proteins and they facility with heterogeneous nuclear RNA. The nuclear lamina includes a two-dimensional matrix of healthy proteins located next to the inner nuclear membrane layer. Vertebrate lamins contain two types, A and B.

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Springer Nature — summary generated by Brevi Assistant

Introduction Becker muscular dystrophy is a genetic and progressive neuromuscular disease triggered by anomalies in the dystrophin genetics without an available cure. Methods We define a BMD family with a 10-year-old child as the proband and assessed BMD cases from PubMed. Muscular dystrophies encompass a wide and heterogeneous part of hereditary myopathies that materialize from structural or useful abnormalities in the skeletal muscle mass. A number of research studies have well-established cognitive deficits in muscular dystrophies which are primarily due to the disturbance of brain-specific expression of affected muscular tissue healthy proteins. Cardiac disease has become a leading source of mortality in Duchenne muscular dystrophy in the present era. Seventeen providers report their center has positioned an implantable cardioverter defibrillator in at least 1 DMD patient, while 11 suppliers would not position an ICD for main prevention in a DMD patient. Uncommon dystrophin production because of anomalies in the dystrophin genetics triggers Duchenne Muscular Dystrophy. We carried out a retrospective cohort research study of DMD patients complied with at 17 facilities across the USA and Canada from 2005 to 2015 with the goal of recognizing the genetic variability of DMD and its influence on clinical results. Limb-girdle muscular dystrophy is a group of clinically and genetically heterogeneous neuromuscular disorders. We defined two LGMD-R7 patients providing a classic LGMD phenotype and unique homozygous TCAP mutation. History Major efforts have been made in recent years to develop and boost treatments for proximal spine muscular atrophy. The experiences made with these new medicines for SMA, and the experiences in AAV genetics treatments could help to widen the spectrum of present methods to conflict with pathophysiological mechanisms in neurodegeneration.

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DOAJ — summary generated by Brevi Assistant

History: Almost all Duchenne muscular dystrophy patients that reach their 30s present cardiomyopathy. Final thought: Pharmacologic treatment for DMDCM patients is related to reduced HR and boosted LVEF. ABSTRACT Background: Analysis of autonomic modulation after postural modification may educate the diagnosis and overview treatment in different populations. Techniques: Fifty-nine teens were included in the research study and divided into 2 teams: 1 DMD team: teenagers identified with DMD; 2 control group CG: healthy and balanced teenagers. Abstract A 2‐year‐old female spayed canine existed with a persistent background of short‐strided stride and inability to completely open the jaw. Scientific indicators have existed since the pet dog was adopted from a gentle society at a few months of age. Lipocalin 2 Lcn2 is an adipokine included in bone and basal metabolism. We then ablated Lcn2 in MDX mice, reproducing them with Lcn2 −/ − mice MDXxLcn2 −/ −, resulting in a greater percent of trabecular volume/total tissue volume contrasted to MDX mice, likely due to lowered bone resorption. History: Facioscapulohumeral muscular dystrophy is the 3rd most commonly found type of muscular dystrophy. The aim of this research study was to correlate the D4Z4 repeat selection fragment size to the orofacial muscle mass weakening displayed in a team of patients with a genetically sustained medical diagnosis of FSHD. Limb-girdle muscular dystrophy R3, unusual congenital disease impacting the arm or leg proximal muscular tissues, is caused by anomalies in the α-sarcoglycan gene Sgca and exacerbated by immune-mediated damages, carefully regulated by the extracellular eATP/purinoceptors axis. A cytometric characterization of the muscular tissue inflammatory infiltrates showed that A438079 dramatically reduced natural immune cells and upregulated the immunosuppressive governing T cell subpopulation.

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Europe PMC — summary generated by Brevi Assistant

Oculopharyngeal muscular dystrophy is a late-onset disorder identified by progressive weakness and deterioration of specific muscular tissues. Significantly, improvement of muscular tissue structure and function in the presence of UPS mutants does not correlate with the degrees of PABPN1 aggregation, yet is connected to reduced deterioration of muscle mass healthy proteins. Introduction/aims Limb girdle muscular dystrophy type R9 is defined by progressive weakness of the shoulder and hip bands. Fat fractions of all explored leg muscular tissues were substantially raised vs. Controls, with the posterior upper leg muscular tissues being one of the most severely affected. In Becker muscular dystrophy, muscle mass weak point advances relatively slowly, with a very variable rate in between patients. If temporal rise of fat fraction in BMD complies with a sigmoidal trajectory and whether fat fraction at standard can therefore predict FF rise after 2 year, we evaluated. Cardiac illness has arised as a leading source of mortality in Duchenne muscular dystrophy in the existing era. Seventeen service providers report their center has put an implantable cardioverter defibrillator in at very least 1 DMD patient, while 11 companies would not place an ICD for primary avoidance in a DMD patient. Objective To assess the management of the ptosis connected with oculopharyngeal muscular dystrophy from one writer’s experience over 34 years, demonstrate Mueller’s muscular tissue participation in this condition, and how this affects the preferred choice of surgical procedure. Administration techniques for ptosis surgical treatment in OPMD are reviewed. Introduction/aims The full range of the professional phenotype of facioscapulohumeral muscular dystrophy, past skeletal muscle weakness, remains badly identified. We examined the organization in between disease manifestations and age of beginning, hereditary profile, and disease duration.

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