“Muscular Dystrophy” Science-Research, January 2022, Week 3 — summary from MedlinePlus Genetics, ClinicalTrials.gov, PubMed, NCBI Gene, DOAJ and Europe PMC

MedlinePlus Genetics — summary generated by Brevi Assistant

Muscular dystrophies are a team of hereditary problems characterized by progressive muscle weakness and wasting. An associated problem called X-linked dilated cardiomyopathy is a form of cardiovascular disease created by mutations in the exact same gene as Duchenne and Becker muscular dystrophy, and it is often identified as subclinical Becker muscular dystrophy. People with X-linked dilated cardiomyopathy normally do not have any kind of skeletal muscle weakness or wasting, although they may have subtle modifications in their skeletal muscle mass cells that are obvious through lab screening. Facioscapulohumeral muscular dystrophy is a problem defined by muscle mass weakness and wasting. The symptoms and signs of facioscapulohumeral muscular dystrophy normally appear in adolescence. The muscle mass weakness related to facioscapulohumeral muscular dystrophy worsens gradually over decades and might infect other components of the body. LAMA2 -related muscular dystrophy is a condition that creates weakness and losing of muscles made use of for activity. It is taken into consideration component of a class of muscular tissue problems called hereditary muscular dystrophies and is occasionally called congenital muscular dystrophy type 1A. Signs of late-onset LAMA2 -associated muscular dystrophy come to be apparent later in childhood years or their adult years, and are comparable to those of a team of muscle disorders classified as limb-girdle muscular dystrophies. LMNA -relevant genetic muscular dystrophy is a problem that mostly impacts muscles made use of for activity. People with L-CMD additionally have an increased threat of heart rhythm irregularities. Gradually, muscular tissue weak point triggers most babies and youngsters with L-CMD to have problems consuming and breathing. Oculopharyngeal muscular dystrophy is a hereditary problem identified by muscular tissue weakness that starts in their adult years, typically after age 40. Many individuals with oculopharyngeal muscular dystrophy also have weakness and wasting of the tongue. Individuals with oculopharyngeal muscular dystrophy often have weak point in the muscular tissues near the center of the body, especially muscles in the shoulders, top legs, and hips. Inflexible spine muscular dystrophy is a type of congenital muscular dystrophy. Over time, muscles bordering the spinal column degeneration, and the joints of the spine create defects called contractures that limit motion. The attributes of stiff back syndrome usually appear at a more youthful age in people with RSMD than in those with other muscle mass problems.

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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, ascending safety and security, dosage and tolerability research study of a single intravenous infusion of PF-06939926 in ambulatory and non-ambulatory subjects with Duchenne muscular dystrophy. A total of about 35 topics will obtain PF-06939926, and these will include both non-ambulatory and ambulatory subjects. Up to 13 topics might be consisted of in a cohort that includes the concomitant medicine, sirolimus. In order to mitigate unexpected risks to subject security, enrollment will be surprised within and between two organized dose-levels and will consist of an official testimonial by external information keeping an eye on board prior to dose development. The research study will examine the efficacy of PF-06939926 gene treatment on ambulatory function while also checking its safety. About 99 kids with DMD will be enrolled and arbitrarily assigned to a couple of groups: roughly two thirds will be in Cohort 1 and receive gene treatment at the beginning of the study; about one third will be in Cohort 2 and receive placebo at the begin of the research study and get genetics therapy after one year, as long as it stays risk-free to do so. The research study consists of children that go to the very least 4 years old and much less than 8 years of ages. All boys will need to be on a day-to-day dose of glucocorticoids for at least 3 months before registering and to remain on daily glucocorticoids for the first 2 years of the study. This Phase II research is an open-label, multiple dosage research to assess the security, tolerability, PK, PD, professional efficacy, actions and neuropsychology, and physical performance of vamorolone provided by mouth at everyday dosages of 2. 0 mg/kg and 6. 0 mg/kg over a therapy duration of 3 months in steroid-naïve kids ages 2 to < 4, and presently neglected and glucocorticoid-treated children ages 7 to < 18 years with DMD. Glucocorticoid-treated subjects in the 7 to < 18 years of age will take their last dose of SoC glucocorticoid therapy for DMD on Baseline Day -1, within 24 hrs before administration of the first dosage of vamorolone research medication. All subjects at both ages will start their appointed vamorolone therapy on Treatment Period Day 1, and will remain to get their designated vamorolone treatment throughout the duration of the 3 month Treatment Period. Topics finishing VBP15–006 and enlisting directly right into the enhanced access or thoughtful use program or transitioning straight to SoC glucocorticoid therapy will not need to taper their vamorolone dose before involvement in the enhanced access or caring use program or initiation of SoC glucocorticoid treatment.

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  • https://clinicaltrials.gov/ct2/show/NCT03362502 — A PHASE 1B MULTICENTER, OPEN-LABEL, SINGLE ASCENDING DOSE STUDY TO EVALUATE THE SAFETY AND TOLERABILITY OF PF-06939926 IN AMBULATORY AND NON-AMBULATORY SUBJECTS WITH DUCHENNE MUSCULAR DYSTROPHY.
  • https://clinicaltrials.gov/ct2/show/NCT04281485 — A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE SAFETY AND EFFICACY OF PF 06939926 FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY.
  • https://clinicaltrials.gov/ct2/show/NCT05185622 — A Phase II Open-Label, Multiple Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Vamorolone in Boys Ages 2 to <4 Years and 7 to <18 Years With Duchenne Muscular Dystrophy (DMD).

PubMed — summary generated by Brevi Assistant

Oculopharyngeal muscular dystrophy is a late-onset problem characterized by progressive weak point and degeneration of specific muscles. Significantly, renovation of muscle framework and function in the visibility of UPS mutants does not correlate with the degrees of PABPN1 gathering, yet is connected to reduced degradation of muscle healthy proteins. Cardiac condition has emerged as a leading reason of mortality in Duchenne muscular dystrophy in the current era. Pediatric cardiology providers within ACTION were evaluated concerning their strategies for heart treatment in DMD. Dysregulation of autophagy might add to the progression of various muscle mass diseases, including Duchenne muscular dystrophy. Although the absence of Hmox1 in mdx mice influenced blood cell matter and the wealth of profibrotic proteins, no striking distinctions in mRNA and healthy protein levels of autophagy and mitophagy markers were located. History: Patients with Duchenne muscular dystrophy may go to greater threat of a serious course of COVID-19. The goal of the research study was to assess: the occurrence and course of COVID-19 infection in DMD patients; the vaccination condition of DMD patients; and COVID-19 relevant anxiousness amongst DMD families. Duchenne muscular dystrophy, a fatal bone and joint problem, is linked with neurodevelopmental disorders and cognitive impairment triggered by brain dystrophin shortage. Therefore, the DE50-MD canine is a translationally-relevant pre-clinical model to examine the consequences of Dp427 shortage in the brain and to create healing strategies for the neurological sequelae of DMD.

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NCBI Gene — summary generated by Brevi Assistant

The protein inscribed by this gene belongs to the ferlin family and is a skeletal muscle mass protein discovered related to the sarcolemma. Specific mutations in this gene have been shown to create autosomal recessive limb girdle muscular dystrophy type 2B in addition to Miyoshi myopathy. This gene encodes a huge, rod-like cytoskeletal protein which is located at the inner surface of muscle fibers in the heart and skeletal muscles. Anomalies in the human gene cause Duchenne and Becker Muscular Dystrophies and a type of heart illness called DMD-associated dilated cardiomyopathy. Facioscapulohumeral muscular dystrophy is a typical congenital disease of muscular tissue. The variety of repeat systems differs from 10 to greater than 100 in the population, Nonetheless, in FSHD patients only 1–10 repeat systems are observed as a result of the removal of an essential number of these devices. This gene comes from the subfamily of everywhere shared heterogeneous nuclear ribonucleoproteins. The hnRNPs are RNA binding proteins and they facility with heterogeneous nuclear RNA. The nuclear lamina contains a two-dimensional matrix of healthy proteins located beside the inner nuclear membrane. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated.

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DOAJ — summary generated by Brevi Assistant

Large-animal models for Duchenne muscular dystrophy are crucial for the evaluation of diagnostic treatments and therapy strategies. Our breeding cohort of DMDΔ52 pigs and standard tissue databases offer vital resources for researching DMD disease mechanisms and for testing unique treatment approaches. ABSTRACT Although it is mostly a muscular condition, disabilities in the central nerve system in patients with facioscapulohumeral muscular dystrophy have been explained in literary works. Objective: To describe the cognitive profile of patients with FSHD and to associate the disabilities discovered with medical variables and top quality of life. Goal: To review the effects and safety and security of exercise training, and to determine the most effective exercise intervention for people with Duchenne muscular dystrophy. The aim of this research was to analyze the effects of all kinds of exercise training contrasted with no training, sugar pills or different exercise training programmes in people with Duchenne muscular dystrophy. Aged dystrophin-null pooches are excellent models for studying speculative therapies for Duchenne muscular dystrophy, a lethal muscular tissue disease brought on by dystrophin shortage. To establish the standard, we studied the extensor carpi ulnaris muscle in 15 terminal age man affected canines and 15 age/sex-matched regular dogs. Abstract Introduction This resource is a team-based learning component on genetic threat and was established for use in the inaugural term of our revised undergraduate clinical curriculum, where it was utilized to offer first-year clinical students with an active learning experience to reinforce basic ideas of medical genes. They obtained experience of using principles of clinical genes and had a chance to check out issues relevant to genetic therapy for future disease risk in a family. OBJECTIVE: To check out the development of a laparoscopy strategy for neighborhood shot into the X-linked muscular dystrophy diaphragm. TECHNIQUES: It was used 10 mice Balb/C57 and 5 mdx mice and three different decubitus types were evaluated: the right lateral, supine, and supine decubitus with 20 degrees elevation of the forelimb.

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Europe PMC — summary generated by Brevi Assistant

Oculopharyngeal muscular dystrophy is a late-onset disorder identified by progressive weakness and degeneration of specific muscular tissues. Importantly, renovation of muscle structure and function in the existence of UPS mutants is not associated with the levels of PABPN1 aggregation, yet is connected to reduced degradation of muscle proteins. Introduction/aims Limb band muscular dystrophy type R9 is characterized by progressive weak point of the shoulder and hip girdles. Techniques this empirical, cross-sectional research study explored fat substitute for axial and leg muscles in 14 patients with LGMDR9 and 13 matched, healthy and balanced controls utilizing measurable MRI. Heart illness has become a leading root cause of death in Duchenne muscular dystrophy in the existing era. Pediatric cardiology suppliers within ACTION were surveyed regarding their methods of heart care in DMD. To assess the administration of the ptosis associated with oculopharyngeal muscular dystrophy from one writer’s experience over 34 years, demonstrate Mueller’s muscle involvement in this disease, and how this impacts the preferred selection of surgical procedure. Management methods for ptosis surgical procedure in OPMD are evaluated. Introduction/aims The full range of the clinical phenotype of facioscapulohumeral muscular dystrophy, past skeletal muscle weakness, remains improperly defined. Techniques We did a retrospective graph review of FSHD patients seen at our institution between 2000 and 2017. Duchenne muscular dystrophy, a fatal musculoskeletal condition, is connected with neurodevelopmental disorders and cognitive impairment brought on by brain dystrophin shortage. Via a combination of capillary immunoelectrophoresis, immunolabelling, qPCR and RNAScope sitting hybridization, we reveal that local dystrophin expression in the grown-up canine brain mirrors that of humans, which the DE50-MD pet dog lacks complete size dystrophin healthy protein expression yet keeps expression of the 2 shorter brain-expressed isoforms, Dp140 and Dp71.

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