“Muscular Dystrophy” Science-Research, March 2022, Week 2 — summary from MedlinePlus Genetics, PubMed, NCBI Gene, Springer Nature, DOAJ and Europe PMC

MedlinePlus Genetics — summary generated by Brevi Assistant

Facioscapulohumeral muscular dystrophy is a condition defined by muscle mass weak point and wasting. Weakness in muscular tissues around the eyes can prevent the eyes from closing totally while an individual is asleep, which can result in completely dry eyes and various other eye troubles. LMNA -associated congenital muscular dystrophy is a problem that primarily affects muscular tissues utilized for activity. People with L-CMD additionally have an increased danger of heart rhythm irregularities. Limb-girdle muscular dystrophy is a term for a group of conditions that cause weakness and wasting of the muscular tissues in the limbs. Muscle mass wasting might trigger changes in pose or in the look of the shoulder, back, and arm. Oculopharyngeal muscular dystrophy is a hereditary problem identified by muscular tissue weakness that starts in their adult years, normally after age 40. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting of the tongue. Rigid spine muscular dystrophy is a form of hereditary muscular dystrophy. The features of inflexible spine disorder typically show up at a younger age in people with RSMD than in those with other muscular tissue disorders. Tibial muscular dystrophy is a condition that impacts the muscle mass at the front of the lower leg. Later in life, one third of people with tibial muscular dystrophy experience light to moderate trouble with walking as a result of weak point in other leg muscular tissues.

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Source texts:

• https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy — Facioscapulohumeral muscular dystrophy.
• https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy — LMNA-related congenital muscular dystrophy.
• https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy — Limb-girdle muscular dystrophy.
• https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy — Oculopharyngeal muscular dystrophy.
• https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy — Rigid spine muscular dystrophy.
• https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy — Tibial muscular dystrophy.

PubMed — summary generated by Brevi Assistant

We define a brother or sister set of Mennonite origin birthed from consanguineous parentage with a most likely new phenotype of limb-girdle muscular dystrophy, brief stature, ptosis, and tracheomalacia. The phenotype in the siblings defined right here is unique from Martsolf and Warburg’s mini disorders, the presently understood diseases developing from RAB3GAP2 pathogenic variations. In our companion paper, we addressed the interaction between caretaker effect, out-of-pocket expenditures, and Duchenne Muscular Dystrophy impairment. We located that DMD caregiver impact can be defined by 4 Latent Profile Analysis effect profiles: cheapest, reduced middle, top center, and highest possible impact. Facioscapulohumeral muscular dystrophy is characterised by descending skeletal muscle weakness and losing. We found raised mitochondrial ROS degrees correlate with increases in steady-state mitochondrial membrane potential in FSHD myogenic cells. Duchenne muscular dystrophy is an X-linked acquired myopathy that creates progressive skeletal and cardiac muscle condition. Previous descriptive research studies of GRMD cardiomyopathy have mainly been limited to discerning tasting of the hearts of young pets. Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting any ages, primarily people in the 2nd decade. Women with this muscular dystrophy might rarely have bad birth end results, with facioscapulohumeral muscular dystrophy symptom degeneration post-partum. Although Duchenne muscular dystrophy largely influences muscular tissue cells, the alterations to systemic metabolic rate materialized in DMD patients contribute to the severe phenotype of this deadly problem. Finally, we report for the very first time that miR-378 loss leads to raised systemic metabolic process of mdx mice.

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Source texts:

• https://doi.org/10.1002/ajmg.a.62723 — A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro Martsolf spectrum or a new phenotype.
• https://doi.org/10.1186/s41687-022-00421-6 — Drivers of caregiver impact in Duchenne muscular dystrophy: a cohort study.
• https://doi.org/10.1016/j.redox.2022.102251 — Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target.
• https://doi.org/10.3389/fvets.2021.759585 — Natural History of Histopathologic Changes in Cardiomyopathy of Golden Retriever Muscular Dystrophy.
• https://doi.org/10.1177/2050313X221081359 — Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient.
• https://doi.org/10.1038/s41598-022-07868-z — miR-378 affects metabolic disturbances in the mdx model of Duchenne muscular dystrophy.

NCBI Gene — summary generated by Brevi Assistant

The healthy protein inscribed by this gene belongs to the ferlin family and is a skeletal muscular tissue healthy protein found connected with the sarcolemma. Specific mutations in this gene have been revealed to create autosomal recessive arm or leg 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 inner surface area of muscle fibers in cardiac and skeletal muscles. Anomalies in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Facioscapulohumeral muscular dystrophy is a typical genetic condition of muscle mass. The variety of repeat units varies from 10 to greater than 100 in the population, Nonetheless, in FSHD patients just 1–10 repeat systems are observed since of the removal of an indispensable variety of these units. This gene comes from the subfamily of ubiquitously revealed heterogeneous nuclear ribonucleoproteins. The hnRNPs are RNA binding healthy proteins and they facility with heterogeneous nuclear RNA. The nuclear lamina includes a two-dimensional matrix of proteins located alongside the internal nuclear membrane. During mitosis, the lamina matrix is reversibly dismantled as the lamin healthy proteins are phosphorylated.

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Source texts:

• https://www.ncbi.nlm.nih.gov/gene/8291 — DYSF.
• https://www.ncbi.nlm.nih.gov/gene/13405 — Dmd.
• https://www.ncbi.nlm.nih.gov/gene/2489 — FSHMD1A.
• https://www.ncbi.nlm.nih.gov/gene/9987 — HNRNPDL.
• https://www.ncbi.nlm.nih.gov/gene/4000 — LMNA.

Springer Nature — summary generated by Brevi Assistant

Muscular dystrophies are a group of uncommon genetic degenerative diseases. Our objective was to assess the death pattern in Spain from 1981 to 2016 to analyze the temporal fad and determine feasible geographic differences utilizing population-based information. To conclude, the increasing trend in MD mortality may be attributable to advanced renovations in analysis strategies resulting in an increase in prevalence. History in our companion paper, we attended to the interplay in between caretaker effect, out-of-pocket expenses, and Duchenne Muscular Dystrophy special needs. We found that DMD caregiver effect can be defined by 4 Latent Profile Analysis impact accounts: cheapest, lower middle, top middle, and greatest impact. Direct modeling taken a look at relationships in between impact accounts and psychosocial variables. History Providing caregiving support to people with Duchenne muscular dystrophy is difficult, starting in early youth, and proceeding through the development of multidimensional handicap. Caregivers with the most affordable influence reported the greatest flexibility, cognitive, and upper extremity functioning of their DMD treatment receivers, whereas the highest possible caregiver influence was driven by their care recipient’s negative effects and fatigue. The upper-middle influence group showed excellent irregularity in proxy-disability domains, whereas the lower-middle team had similar degrees of handicap across domains. Duchenne muscular dystrophy primarily impacts muscle cells, The modifications to systemic metabolism shown up in DMD patients contribute to the extreme phenotype of this deadly disorder. The absence of miR-378 in mdx pets minimized those effects with a faster glucose clearance in a glucose tolerance test and normalization of liver glycogen levels. Along with our previous finding, showing reduction of the muscle-related signs and symptoms of DMD, we recommend that the restraint of miR-378 might represent a new strategy to undermine the complex symptoms of DMD.

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Source texts:

• https://doi.org/10.1038/s41598-022-07814-z — A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain.
• https://doi.org/10.1186/s41687-022-00421-6 — Drivers of caregiver impact in Duchenne muscular dystrophy: a cohort study.
• https://doi.org/10.1186/s41687-022-00425-2 — Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study.
• https://doi.org/10.1038/s41598-022-07868-z — miR-378 affects metabolic disturbances in the mdx model of Duchenne muscular dystrophy.

DOAJ — summary generated by Brevi Assistant

Background: Scoliosis is a constant association in children with Duchenne Muscular Dystrophy when the capability to walk is shed around 9 to 12 years old. Optimum precision in predicting scoliosis was obtained with a back angle of -6 Â ° as gauged by skin markers, and both a lumbar angle =-6 Â ° and far better functional ability were related to much less scoliosis. Objective This paper reviews research which is intended to enhance clinical treatment of young people with Duchenne or Becker muscular dystrophy and their families in two Canadian neuromuscular facilities. Outcomes Our analysis recommends that medical teams change their thinking and techniques towards better consideration of human aspects of dealing with MD, including: more routinely addressing emotional, social and experiential measurements of coping with MD; reconceptualisation of danger; and considerations of affective aspects of clinical care. Facioscapulohumeral muscular dystrophy is characterised by descending skeletal muscle mass weak point and losing. We discovered elevated mitochondrial ROS degrees associated with boosts in steady-state mitochondrial membrane layer possibility in FSHD myogenic cells. Abstract Background To describe the lowered health-related lifestyle of duchenne muscular dystrophy patients and their caretaker concern and to present its relationship with illness development. Techniques this cross-sectional study assessed patient HRQoL with the 3-level variation of the EuroQol-5D and caretaker problem with the Work Productivity and Activity Impairment: General Health questionnaire. Muscular dystrophies are devastating and persistent disorders triggered by progressive muscle mass losing. Although some therapies exist to treat the signs and there are ongoing efforts to deal with the underlying molecular defect, patients with muscular dystrophies would substantially gain from new therapies that target the specific paths contributing directly to the muscle mass disorders.

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Source texts:

• https://doi.org/10.33314/jnhrc.v0i0.496 — Effect of Sitting Posture on Development of Scoliosis in Duchenne Muscular Dystrophy Cases.
• https://doi.org/10.1371/journal.pone.0263956 — Enhancing human aspects of care with young people with muscular dystrophy: An evaluation of a participatory qualitative study with clinicians.
• https://doi.org/10.1016/j.redox.2022.102251 — Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target.
• https://doi.org/10.1186/s12955-022-01941-x — Quality of life and informal care burden associated with duchenne muscular dystrophy in Portugal: the COIDUCH study.
• https://doi.org/10.3389/fcvm.2022.851491 — Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics.

Europe PMC — summary generated by Brevi Assistant

We define a brother or sister pair of Mennonite beginning birthed from consanguineous parentage with a likely new phenotype of limb-girdle muscular dystrophy, short stature, ptosis, and tracheomalacia. As RAB3GAP2 has been recently shown to be included in the autophagy process, we evaluated patient-derived fibroblasts by fluorescence microscopy and showed malfunctioning autophagic flux under rapamycin and serum starvation conditions when compared to wild-type cells. History in our companion paper, we resolved the interplay between caregiver influence, out-of-pocket expenditures, and Duchenne Muscular Dystrophy special needs. We located that DMD caretaker impact can be characterized by 4 Latent Profile Analysis impact profiles: lowest, lower middle, top center, and highest possible effect. Nuclear lamina is made up of different A-type and B-type lamin proteins and works as significant regulatory authority of DNA duplication, transcription, heterochromatin-euchromatin machinery. We contrasted the expression levels of the components of paths that indicate essential duty of skeletal muscle in addition to determined gene governing networks at two various time points of muscular tissue differentiation in wild type and mutant cells. History Providing caregiving assistance to people with Duchenne muscular dystrophy is tough, starting in very early youth, and continuing with the progression of multidimensional disability. Caretakers with least expensive influence reported the greatest mobility, cognitive, and upper extremity performance of their DMD care recipients, whereas the greatest caretaker impact was driven by their care recipient’s negative affect and fatigue. Background Oxidative stress is linked to the pathophysiology of Duchenne muscular dystrophy, which is the most usual and serious of the muscular dystrophies. We checked the hypotheses that iron build-up happens in mouse models of DMD which inflection of iron via the diet plan or chelation could change condition intensity. Although Duchenne muscular dystrophy primarily impacts muscular tissue cells, the changes to systemic metabolism manifested in DMD patients add to the serious phenotype of this deadly problem. The lack of miR-378 in mdx pets alleviated those effects with a quicker glucose clearance in a glucose resistance examination and normalization of liver glycogen levels.

Please keep in mind that the text is machine-generated by the Brevi Technologies’ Natural language Generation model, and we do not bear any responsibility. The text above has not been edited and/or modified in any way.

Source texts:

• https://europepmc.org/article/MED/35274444 — A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro Martsolf spectrum or a new phenotype.
• https://europepmc.org/article/MED/35274180 — Drivers of caregiver impact in Duchenne muscular dystrophy: a cohort study.
• https://europepmc.org/article/PPR/PPR466550 — Interconnection between molecular regulators in LMNA related muscular dystrophy.
• https://europepmc.org/article/MED/35267108 — Interplay of disability, caregiver impact, and out-of-pocket expenditures in Duchenne muscular dystrophy: a cohort study.
• https://europepmc.org/article/MED/35249268 — Iron overload and impaired iron handling contribute to the dystrophic pathology in models of Duchenne muscular dystrophy.
• https://europepmc.org/article/MED/35273230 — miR-378 affects metabolic disturbances in the mdx model of Duchenne muscular dystrophy.

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