“Muscular Dystrophy” Science-Research, March 2022, Week 1 — 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 problem defined by muscular tissue weakness and losing. Weakness in muscles around the eyes can stop the eyes from shutting completely while an individual is asleep, which can bring about dry eyes and other eye troubles. LMNA -relevant genetic muscular dystrophy is a problem that mainly affects muscle mass utilized for motion. People with L-CMD also have a boosted risk of heart rhythm irregularities. Limb-girdle muscular dystrophy is a term for a team of diseases that trigger weak point and wasting of the muscular tissues in the legs and arms. As the problem progresses, people with limb-girdle muscular dystrophy may ultimately need wheelchair assistance. Oculopharyngeal muscular dystrophy is a genetic problem defined by muscular tissue weak point that starts in the adult years, usually after age 40. People with oculopharyngeal muscular dystrophy regularly have weakness in the muscular tissues near the center of the body, particularly muscles in the shoulders, upper legs, and hips. Stiff back muscular dystrophy is a kind of hereditary muscular dystrophy. The attributes of stiff spine syndrome generally appear at a younger age in people with RSMD than in those with other muscle problems. Tibial muscular dystrophy is a problem that impacts the muscles at the front of the reduced leg. Later on in life, one third of people with tibial muscular dystrophy experience moderate to modest problems with walking as a result of weakness in 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, ascending tolerability, dosage and safety study of a single intravenous infusion of PF-06939926 in non-ambulatory and ambulatory subjects with Duchenne muscular dystrophy. This Phase II research study is an open-label, multiple dosage study to assess the safety and security, tolerability, PK, PD, clinical efficacy, behavior and neuropsychology, and physical functioning of vamorolone administered by mouth at daily dosages of 2. 0 mg/kg and 6. 0 mg/kg over a therapy period of 3 months in steroid-naïve boys ages 2 to < 4, and glucocorticoid-treated and presently neglected boys ages 7 to < 18 years with DMD. Glucocorticoid-treated subjects in the 7 to < 18 year age group will take their final dose of SoC glucocorticoid therapy for DMD on Baseline Day -1, within 24 hrs prior to administration of the first dosage of vamorolone study medication. The study is an open-label, solitary rising dosage research to examine safety and to evaluate short-term adjustments in biomarkers. For red leading blood collection tubes, one tube will be sent out to the clinical laboratory for safety laboratory processing. Becker Muscular Dystrophy is most regularly due to in-frame mutations in the dystrophin gene that are related to reduced levels of often shortened dystrophin, though other anomalies might be associated with the Becker phenotype. Objectives: The purpose of this protocol is to determine biomarker and clinical correlates of changes in the barrier function of skeletal muscle membrane layer prior to and after regular motor function testing in patients with the Fragile Sarcolemmal Muscular Dystrophies. This task will target as many as 25 ambulatory young boys with DMD aged 7–13 years. Because the vascular influence of tadalafil is instant, we will validate that the drug target stands target in lower extremities by assessing the modification in post-exercise microvascular perfusion utilizing Blood Oxygen Level-Dependent MRI or alter in post-exercise hyperemia using Doppler ultrasonography.

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PubMed — summary generated by Brevi Assistant

We intended to examine the BMI-z course in patients with Duchenne muscular dystrophy during change to loss of ambulation, and to check out the contribution of caloric consumption and corticosteroid usage. Patients that were making use of corticosteroids had substantially greater BMI-z scores contrasted with patients not utilizing corticosteroids. Changes in the expression of the Duchenne muscular dystrophy gene have been associated with the survival, progression and development results of many cancer cells, including tumours of the central nerves. The effect of DMD expression on total survival was just apparent in isocitrate dehydrogenase mutant cases where non-1p/ 19q co-deleted LGG patients might be more stratified right into high/low DMD groups. Duchenne Muscular Dystrophy is a fatal X-linked condition with a birth frequency of 19. 8:100000 men worldwide. Verification results for the GSP Neonatal CK-MM assay were concordant with package specifications and the assay was performed constantly over 6 months. This manuscript is intended to identify the hidden point anomalies triggering Duchenne muscular dystrophy in a heterogeneous group of Iranian patients, that are clinically suspected. The present research has demonstrated the importance of carrying out WES to discover disease-causing point anomalies in MLPA-negative DMD patients and to identify provider females. We report a case of Becker muscular dystrophy in a 6-month-old, mixed-breed, castrated male pig identified with macroglossia at a meat inspection center. Based on this research, we diagnosed the instance as Becker muscular dystrophy-the first known muscular dystrophy instance generated by pseudoexon insertion in animals.

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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 protein located related to the sarcolemma. Specific anomalies in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B as well as Miyoshi myopathy. This gene encodes a big, rod-like cytoskeletal healthy protein which is discovered at the internal surface area of muscle mass fibers in cardiac and skeletal muscles. Mutations in the human gene reason Duchenne and Becker Muscular Dystrophies and a type of cardiovascular disease called DMD-associated dilated cardiomyopathy. Facioscapulohumeral muscular dystrophy is a typical congenital disease of muscular tissue. The number of repeat units differs from 10 to greater than 100 in the population, However, in FSHD patients just 1–10 repeat systems is observed as a result of a deletion of an integral number of these devices. This gene comes from the subfamily of everywhere expressed heterogeneous nuclear ribonucleoproteins. The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA. The nuclear lamina includes a two-dimensional matrix of healthy proteins located alongside the inner nuclear membrane. Lamin proteins are believed to be associated with nuclear security, chromatin structure and gene expression.

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Springer Nature — summary generated by Brevi Assistant

Background and Objectives Caregivers regularly notify regulatory and clinical choice making in rare pediatric conditions. While distinctions in treatment preferences between patients and caretakers have been observed for Duchenne muscular dystrophy, this proof was limited by small examples of patients and results were confused by patient age and disease development. Function A raised crack risk is commonly reported in Duchenne muscular dystrophy. Ambulant topics had greater LS BMD Z -ratings contrasted with non-ambulant ones and subjects with widespread scientific fractures [N = 9] Revealed reduced LS BMD Z -scores compared with topics without fractures. Goal Dysphagia can be troublesome in occasional incorporation body myositis and oculopharyngeal muscular dystrophy, yet no established treatment exists. Final thought Botulinum toxic substance injection of the cricopharyngeal muscle mass in patients with OPMD and sIBM had an advantageous result in dysphagia in most of the treated patients. Purpose The aim of this study was to estimate the price of ailment of Duchenne muscular dystrophy and its relationship to illness development, using age as a proxy, and according to the ambulatory condition of patients. Conclusions Our results indicate a close relation between total disease expenses and disease development. Intro Limb-girdle muscular dystrophy is a team of medically heterogeneous muscular tissue problems typically materializing from proximal limb girdle muscular tissue weak point. Methods We report a Han Chinese family with LGMD2J. History To define the minimized health-related lifestyle of duchenne muscular dystrophy patients and their caretakers and to present its relationship with disease progression. Methods this cross-sectional study analyzed patient HRQoL with the 3-level variation of the EuroQol-5D and caregiver problem with the Work Productivity and Activity Impairment: General Health survey.

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DOAJ — summary generated by Brevi Assistant

Facioscapulohumeral muscular dystrophy stands for a significant unmet professional need arising from the progressive weak point and degeneration of skeletal muscles. Below we reveal that SkMCs stemmed from FSHD1‐affected hESC lines exclusively share the FSHD pathogenic pen double homeobox 4 and display several of the flaws reported in FSHD. Objective This paper reviews research which is intended to improve scientific treatment of youths with Duchenne or Becker muscular dystrophy and their families in two Canadian neuromuscular centers. Outcomes Our evaluation recommends the scientific teams change their thinking and techniques towards better consideration of human aspects of coping with MD consisting of: more routinely addressing emotional, social and experiential dimensions of living with MD; reconceptualisation of danger; and considerations of affective aspects of scientific care. Duchenne muscular dystrophy is unusual, hereditary, progressive. Inducedpluripotent stem cells supplies an encouraging cell-based strategy. Facioscapulohumeral muscular dystrophy is qualified by descending skeletal muscular tissue weak point and losing. We located elevated mitochondrial ROS degrees associated with rises in steady-state mitochondrial membrane potential in FSHD myogenic cells. PURPOSE: To investigate the growth of a laparoscopy technique for regional injection right into the X-linked muscular dystrophy diaphragm. TECHNIQUES: It was made use of 10 mice Balb/C57 and 5 mdx mice and 3 different decubitus types were checked: the right lateral, supine, and supine decubitus with 20 levels altitude of the forelimb. LGMDR1 is brought on by mutations in the CAPN3 gene that encodes calpain 3, a non-lysosomal cysteine protease needed for correct muscle function. We discovered that CAPN3 knockout mice provided SERCA deficits in skeletal muscle mass in the onset of the illness, before the manifestation of muscle deficits.

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Europe PMC — summary generated by Brevi Assistant

History and goals Caregivers routinely notify medical and regulatory decision making in rare pediatric illnesses While distinctions in treatment preferences across caregivers and patients have been observed for Duchenne muscular dystrophy, this evidence was limited by tiny samples of patients and results were amazed by patient age and disease progression. Introduction: Duchenne muscular dystrophy patients are in danger of developing problems that can jeopardize their bone health, such as cracks and walking disability. Verdict: The older patients had reduced lumbar spinal column and total body BMD Z-score worths than younger patients. Purpose Dysphagia can be frustrating in erratic inclusion body myositis and oculopharyngeal muscular dystrophy, however no established therapy exists. Final thought Botulinum toxic substance injection of the cricopharyngeal muscle mass in patients with OPMD and sIBM had useful impact on dysphagia in most of the cured patients. Introduction Limb-girdle muscular dystrophy is a team of medically heterogeneous muscle mass problems typically materializing proximal limb band muscle mass weak point. There have been even more than 30 subtypes of LGMD linked with causative genetics and limb-girdle muscular dystrophy type 2J is triggered by mutations in the TTN gene. History To define the reduced health-related high quality of life of duchenne muscular dystrophy patients and their caretaker problem and to present its relationship with condition progression. Methods this cross-sectional research analyzed patient HRQoL with the 3-level version of the EuroQol-5D and caretaker worry with the Work Productivity and Activity Impairment: General Health survey. Background Impaired cough causes air passage secretion retention, atelectasis and pneumonia in individuals with Duchenne muscular dystrophy. The benefits of LVR for preserving lung wellness in children with worse baseline lung function still need to be clarified.

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