Titre : Myopathie à axe central

Myopathie à axe central : Questions médicales fréquentes

Termes MeSH sélectionnés :

Recombinational DNA Repair
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Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.", "datePublished": "2023-08-14", "url": "https://questionsmedicales.fr/article/37578980", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1371/journal.pgen.1010739" } }, { "@type": "ScholarlyArticle", "name": "Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair.", "datePublished": "2023-09-08", "url": "https://questionsmedicales.fr/article/37682991", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1126/sciadv.adh2358" } }, { "@type": "ScholarlyArticle", "name": "Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair.", "datePublished": "2023-09-06", "url": "https://questionsmedicales.fr/article/37759442", 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"hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Myopathie à axe central", "description": "Comment diagnostique-t-on la myopathie à axe central ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques sont observés ?\nL'IRM est-elle utile pour le diagnostic ?\nQuel rôle joue l'historique familial ?", "url": "https://questionsmedicales.fr/mesh/D020512?mesh_terms=Recombinational+DNA+Repair&page=5#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Myopathie à axe central", "description": "Quels sont les principaux symptômes ?\nLa myopathie affecte-t-elle tous les muscles ?\nY a-t-il des symptômes respiratoires ?\nLes symptômes varient-ils selon l'âge ?\nDes troubles de la marche sont-ils fréquents ?", "url": "https://questionsmedicales.fr/mesh/D020512?mesh_terms=Recombinational+DNA+Repair&page=5#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": 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survenir ?\nLa myopathie peut-elle affecter la vie quotidienne ?\nY a-t-il un risque de cardiomyopathie ?\nLes infections sont-elles plus fréquentes ?\nComment gérer les complications ?", "url": "https://questionsmedicales.fr/mesh/D020512?mesh_terms=Recombinational+DNA+Repair&page=5#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Myopathie à axe central", "description": "Quels sont les facteurs de risque génétiques ?\nL'âge est-il un facteur de risque ?\nLe sexe influence-t-il le risque ?\nDes facteurs environnementaux jouent-ils un rôle ?\nLes maladies associées augmentent-elles le risque ?", "url": "https://questionsmedicales.fr/mesh/D020512?mesh_terms=Recombinational+DNA+Repair&page=5#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on la myopathie à axe central ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'électromyogramme et la biopsie musculaire." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent identifier des mutations dans le gène RYR1, associé à cette myopathie." } }, { "@type": "Question", "name": "Quels signes cliniques sont observés ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "On observe souvent une faiblesse musculaire proximale et des anomalies dans les biopsies musculaires." } }, { "@type": "Question", "name": "L'IRM est-elle utile pour le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'IRM peut montrer des anomalies musculaires caractéristiques de la myopathie à axe central." } }, { "@type": "Question", "name": "Quel rôle joue l'historique familial ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Un historique familial de myopathies peut orienter le diagnostic vers une origine génétique." } }, { "@type": "Question", "name": "Quels sont les principaux symptômes ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent faiblesse musculaire, fatigue et parfois des douleurs musculaires." } }, { "@type": "Question", "name": "La myopathie affecte-t-elle tous les muscles ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Elle touche principalement les muscles proximaux, comme ceux des hanches et des épaules." } }, { "@type": "Question", "name": "Y a-t-il des symptômes respiratoires ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Dans certains cas, la faiblesse musculaire peut affecter les muscles respiratoires." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon l'âge ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent apparaître dès l'enfance ou à l'âge adulte, selon les cas." } }, { "@type": "Question", "name": "Des troubles de la marche sont-ils fréquents ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la faiblesse musculaire peut entraîner des difficultés à marcher ou à se lever." } }, { "@type": "Question", "name": "Peut-on prévenir la myopathie à axe central ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Étant génétique, il n'existe pas de prévention, mais un diagnostic précoce aide à la gestion." } }, { "@type": "Question", "name": "Le dépistage est-il recommandé ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Le dépistage génétique peut être conseillé pour les familles à risque de transmission." } }, { "@type": "Question", "name": "Des conseils de vie peuvent-ils aider ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Des conseils sur l'exercice et la nutrition peuvent améliorer la qualité de vie des patients." } }, { "@type": "Question", "name": "Les activités physiques sont-elles bénéfiques ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des activités adaptées peuvent aider à maintenir la force musculaire et la mobilité." } }, { "@type": "Question", "name": "Les consultations régulières sont-elles nécessaires ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des suivis réguliers permettent d'ajuster les traitements et surveiller l'évolution." } }, { "@type": "Question", "name": "Quels traitements sont disponibles ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement curatif, mais la physiothérapie aide à maintenir la force musculaire." } }, { "@type": "Question", "name": "Les médicaments sont-ils efficaces ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour gérer les symptômes, mais leur efficacité varie." } }, { "@type": "Question", "name": "La chirurgie est-elle une option ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "La chirurgie n'est généralement pas indiquée, sauf pour des complications spécifiques." } }, { "@type": "Question", "name": "Comment la rééducation aide-t-elle ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "La rééducation physique aide à améliorer la fonction musculaire et la qualité de vie." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des essais cliniques explorent des thérapies géniques et des traitements ciblés." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des problèmes respiratoires et des déformations musculo-squelettiques." } }, { "@type": "Question", "name": "La myopathie peut-elle affecter la vie quotidienne ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la faiblesse musculaire peut limiter les activités quotidiennes et l'autonomie." } }, { "@type": "Question", "name": "Y a-t-il un risque de cardiomyopathie ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines formes de myopathie peuvent être associées à des problèmes cardiaques." } }, { "@type": "Question", "name": "Les infections sont-elles plus fréquentes ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les infections peuvent survenir en raison de la faiblesse musculaire et de l'immobilité." } }, { "@type": "Question", "name": "Comment gérer les complications ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Une prise en charge multidisciplinaire est essentielle pour gérer les complications." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque génétiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de myopathies augmentent le risque de développer cette maladie." } }, { "@type": "Question", "name": "L'âge est-il un facteur de risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "L'âge d'apparition peut varier, mais les symptômes se manifestent souvent dans l'enfance." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Les myopathies peuvent affecter les deux sexes, mais certaines formes sont plus fréquentes chez les hommes." } }, { "@type": "Question", "name": "Des facteurs environnementaux jouent-ils un rôle ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques." } }, { "@type": "Question", "name": "Les maladies associées augmentent-elles le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Certaines maladies auto-immunes peuvent coexister avec la myopathie, mais leur lien n'est pas direct." } } ] } ] }

Sources (10000 au total)

Mutational pattern off homologous recombination repair (HRR)-related genes in upper tract urothelial carcinoma.

Homologous recombination (HR) repair (HRR) has been indicated to be a biomarker for immunotherapy, chemotherapy, and poly-ADP ribose polymerase inhibitors inhibitors (PARPis). Nonetheless, their molec... One hundred and ninety-seven tumors and matched blood samples from Chinese UTUC were subjected to next-generation sequencing. A total of 186 patients from The Cancer Genome Atlas were included. Compre... In Chinese patients with UTUC, 5.01% harbored germline HRR gene mutations, and 1.01% had Lynch syndrome-related genes. A total of 37.6% (74/197) of patients carried somatic or germline HRR gene mutati... Our results imply that the detection of HRR gene mutations can predict recurrence in patients with UC. In addition, this study provides a path to explore the role of HRR-directed therapies, including ...

Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.

Germline mutations of breast cancer susceptibility gene BRCA1 and BRCA2 (gBRCA1/2) are associated with elevated risk of breast cancer in young women in Asia. BRCA1 and BRCA2 proteins contribute to gen... Data of the breast cancer patients with pathogenic gBRCA1/2 mutations and qualified targeted next-generation sequencing, SNUH FiRST cancer panel, were analyzed. Single nucleotide polymorphisms, small ... Fifty-five Korean breast cancer patients with known gBRCA1/2 mutations and qualified targeted NGS data were analyzed. Ethnically distinct mutations in gBRCA1/2 genes were noted, with higher frequencie... Our study showed genetic heterogeneity of breast cancer patients with gBRCA1 and gBRCA2 mutations in the Korean populations. Further studies on precision medicine are needed for tailored treatments of...

Rtt105 stimulates Rad51-ssDNA assembly and orchestrates Rad51 and RPA actions to promote homologous recombination repair.

Homologous recombination (HR) is essential for the maintenance of genome stability. During HR, Replication Protein A (RPA) rapidly coats the 3'-tailed single-strand DNA (ssDNA) generated by end resect...

CBL0137 impairs homologous recombination repair and sensitizes high-grade serous ovarian carcinoma to PARP inhibitors.

High-grade serous ovarian carcinomas (HGSCs) are a heterogeneous subtype of epithelial ovarian cancers and include serous cancers arising in the fallopian tube and peritoneum. These cancers are now su... We tested anti-cancer activity of CBL0137 monotherapy using a panel of HGSC cell lines and patient-derived tumor cells in vitro. RNA sequencing was used to map global transcriptomic changes in CBL0137... We show that SSRP1 inhibition using a small molecule, CBL0137, that traps SSRP1 onto chromatin, exerts a significant anti-growth activity in vitro against HGSC cell lines and patient-derived tumor cel... Our findings strongly suggest that combination of CBL0137 and PARP inhibition represents a novel therapeutic strategy for HR-proficient HGSCs that express high levels of SSRP1 and should be investigat...

Screening DNA aptamers that control the DNA cleavage, homology-directed repair, and transcriptional regulation of the CRISPR-(d)Cas9 system.

Accurate genome editing based on various molecular tools has always been the focus of gene-editing research and the primary goal for therapeutic application. The clustered regularly interspaced short ...

Microcystin-LR-induced nuclear translocation of cGAS promotes mutagenesis in human hepatocytes by impeding homologous recombination repair.

Microcystin-LR (MC-LR) has been recognized as a typical hepatotoxic cyclic peptides produced by cyanobacteria. Nowadays, due to the frequent occurrence of cyanobacterial blooms, the underlying hepatot...