Titre : Myopathie à axe central

Myopathie à axe central : Questions médicales fréquentes

Termes MeSH sélectionnés :

Down-Regulation
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"https://questionsmedicales.fr/mesh/D020512?mesh_terms=Down-Regulation&page=3#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)

Promoter hypermethylation and comprehensive regulation of ncRNA lead to the down-regulation of ZNF880, providing a new insight for the therapeutics and research of colorectal cancer.

The human genome encodes more than 350 kinds of Krüppel-associated box (KRAB) domain-containing zinc-finger proteins (KZFPs), KRAB-type ZNF transcription factor family (KZNF) plays a vital role in gen...

Reduced virulence in tigecycline-resistant Klebsiella pneumoniae caused by overexpression of ompR and down-regulation of ompK35.

The development of tigecycline resistance in hypervirulent Klebsiella pneumoniae strains has resulted in decreased virulence that is associated with reduced production of capsular polysaccharides (CPS... We compared transcriptomes from tigecycline-susceptible wild-type strains and tigecycline-resistant mutants using mRNA sequencing. ompR-overexpressed and ompR-deleted mutants were constructed from wil... Transcriptomic analyses demonstrated a significant decrease in the expression of ompK35 in the tigecycline-resistant mutants. We observed that tigecycline-resistant mutants overexpressed ompR, and tha... In hypervirulent K. pneumoniae strains, ompR expression, which is regulated by exposure to tigecycline, may affect the production of CPS, leading to bacterial virulence....

Down-regulation of EVA1A by miR-103a-3p promotes hepatocellular carcinoma cells proliferation and migration.

EVA1A (Eva-1 homolog A), a novel protein involved in autophagy and apoptosis, functions as a tumor suppressor in some human primary cancers, including hepatocellular carcinoma (HCC). While it is consi... We first detected the expression of EVA1A in HCC tissues and cell lines using RT‒qPCR, immunohistochemistry and western blotting and detected the expression of miR-103a-3p by RT‒qPCR. Then, bioinforma... We found that EVA1A expression was decreased while miR-103a-3p expression was increased in HCC tissues and cell lines and that their expression was inversely correlated in HCC patients. The expression... These findings indicate that the downregulation of the tumor suppressor EVA1A by miR-103a-3p potentially acts as a key mediator in HCC progression, mainly by inhibiting apoptosis and promoting metasta...

Effect of lncRNA LINC00324 on cervical cancer progression through down-regulation of miR-195-5p.

Long non-coding RNAs (lncRNAs) have been widely used in the exploration of diseases in recent years. This paper introduced the significance of lncRNA LINC00324 (LINC00324) on the progression of cervic... The cervical cancer tissues and adjacent normal tissues of 120 people were collected as research samples. The expression level of LINC00324 was assessed by RT-qPCR, as was miR-195-5p. Knockdown of LIN... Significantly increased expression of LINC00324 and down-regulated miR-195-5p were negatively correlated in cervical cancer. Knockdown of LINC00324 inhibited the progression of cervical cancer, which ... LINC00324 targets miR-195-5p to regulate the progression of cervical cancer and have potential as a prognostic molecular marker for cervical cancer....

Altered profile of floral volatiles and lignin content by down-regulation of Caffeoyl Shikimate Esterase in Petunia.

The floral volatile profile of Petunia x hybrida 'Mitchell diploid' (MD) is dominated by phenylpropanoids, many of which are derived from p-coumaric acid. However, the downstream processes involved in... Lowered CSE transcript accumulation in ir-PhCSE plants resulted in reduced lignin layers in the stems and stunted growth, suggesting a positive correlation between lignin layers and lignin content. Th... Reduced lignin layers in the stems and stunted growth in ir-PhCSE plants suggest that PhCSE is essential for lignin production and plant growth in petunia. The decreased CSE level influenced the expre...

Exogenous dsRNA trigger RNAi in Venturia inaequalis resulting in down regulation of target genes and growth reduction.

Venturia inaequalis is an apple scab causing fungal pathogen. It is a highly contagious and destructive pathogen which rapidly spreads infection in the surrounding orchards if not managed. The managem... The exogenous application of dsRNAs was found to reduce mycelial growth and spore formation of V. inaequalis on culture plates. Four genes of V. inaequalis viz. CIN1, CE5, VICE12 and VICE16 which get ... The result of this investigation validates the hypothesis that RNAi is evoked in V. inaequalis by exogenously supplied dsRNA and spray induced gene silencing (SIGS) based solutions may reduce burden o...