M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024161
Alexis Boulinguiez, Dounia Bouragba, Barbara Crisol, Anne Bigot, Gillian Butler-Browne, Capucine Trollet
{"title":"[Effects of physical exercise in muscular dystrophies].","authors":"Alexis Boulinguiez, Dounia Bouragba, Barbara Crisol, Anne Bigot, Gillian Butler-Browne, Capucine Trollet","doi":"10.1051/medsci/2024161","DOIUrl":"10.1051/medsci/2024161","url":null,"abstract":"<p><p>Myopathies are a heterogeneous group of diseases characterized by progressive muscle weakness and degeneration. While muscle diseases have a major impact on patients' quality of life, a growing number of pre-clinical and clinical studies suggest that adapted physical exercise is beneficial in alleviating some symptoms and improving some functional parameters. This brief review of the literature discusses the current state of research about the effects of exercise in humans with various muscle diseases, exploring its impact on molecular mechanisms, muscle strength, endurance, function and the quality of life.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"17-21"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024173
Alix Zuinghedau, Michel Kazatchkine
{"title":"[Preparedness and response to pandemic at risk of demobilization].","authors":"Alix Zuinghedau, Michel Kazatchkine","doi":"10.1051/medsci/2024173","DOIUrl":"https://doi.org/10.1051/medsci/2024173","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"805-806"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024131
Alicia Milot, Mariya Raikova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy-Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich
{"title":"[Arthrogryposis Multiplex Congenita in pediatric age: Correlation between Muscle MRI and functional assessment].","authors":"Alicia Milot, Mariya Raikova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy-Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich","doi":"10.1051/medsci/2024131","DOIUrl":"10.1051/medsci/2024131","url":null,"abstract":"<p><p>Arthrogryposis multiplex congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. In this article we will present the results of our study aimed at evaluating the correlation between muscle fat infiltration on MRI and activity deficiencies and limitations in children with AMC. Our study is one of the first in a pediatric population to establish the link between muscle imaging and functional aspects of AMC.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"26-29"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024136
Raja Kraiem
{"title":"[Role of the Advanced practice nurse (APN) in the follow-up of respiratory failure in neuromuscular patient].","authors":"Raja Kraiem","doi":"10.1051/medsci/2024136","DOIUrl":"10.1051/medsci/2024136","url":null,"abstract":"<p><p>This study, which focuses on the follow-up of respiratory failure in neuromuscular patients, highlights the need to improve the supply of care and to compensate for gaps in care. Advanced practice nurses (APNs) as part of a multidisciplinary approach, could be the missing link. Improving the management of neuromuscular disorders is a key concern for the Filnemus neuromuscular rare disease network, the reference centers and the AFM-Téléthon. This is also where the need for an APN specialized in neuromuscular disorders is being discussed, and which could meet needs that are not covered, or are insufficiently covered, in the healthcare pathway.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"9-11"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024141
Charles Le Ciclé, Vincent Pacini, Nicolas Rama, Servane Tauszig-Delamasure, Éloïse Airaud, Florence Petit, Simon de Beco, Joëlle Cohen-Tannoudji, David L'Hôte
{"title":"[Transcription factors NEUROD1 and NEUROD4 in the migration of gonadotrope cells during pituitary embryogenesis].","authors":"Charles Le Ciclé, Vincent Pacini, Nicolas Rama, Servane Tauszig-Delamasure, Éloïse Airaud, Florence Petit, Simon de Beco, Joëlle Cohen-Tannoudji, David L'Hôte","doi":"10.1051/medsci/2024141","DOIUrl":"https://doi.org/10.1051/medsci/2024141","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"810-812"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024149
Bertrand Jordan
{"title":"[New-generation editing].","authors":"Bertrand Jordan","doi":"10.1051/medsci/2024149","DOIUrl":"10.1051/medsci/2024149","url":null,"abstract":"<p><p>Recent work on bacterial insertion sequences reveals that some of them use an RNA sequence (called Bridge RNA or Seek RNA) to define both donor and target DNA specificity. This opens the way to easy insertion of kilobase DNA sequences at pre-defined sites in the genome, announcing a host of new possibilities. The system still needs a lot of tweaking, as it has only been demonstrated in bacteria, but it holds great promise for genome editing and engineering.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"869-871"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-11-18DOI: 10.1051/medsci/2024133
Audrey Saugues, Anita Kneppers, Rémi Mounier
{"title":"[Muscle stem cells and metabolism in Duchenne muscular dystrophy, focus on AMPK].","authors":"Audrey Saugues, Anita Kneppers, Rémi Mounier","doi":"10.1051/medsci/2024133","DOIUrl":"https://doi.org/10.1051/medsci/2024133","url":null,"abstract":"<p><p>Through their myogenic activity, adult muscle stem cells (MuSCs) are crucial for the regeneration of striated skeletal muscle. Once activated, they proliferate, differentiate and then fuse to repair or form new muscle fibers (myofibers). Their progression through myogenesis requires a complex regulation involving multiple players such as metabolism, in particular via AMPK. This protein kinase regulates the self-renewal and myonuclear accretion of MuSCs after acute skeletal muscle injury or skeletal muscle contraction. However, in a context of dystrophy such as Duchenne muscular dystrophy (DMD), the regenerative capacity of MuSCs is reduced, presumably due to an increase of the proliferation that is detrimental to differentiation. We are interested here in the potential of metabolism to regulate the myogenic activity of MuSCs in DMD via AMPK.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"60-63"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}