Titre : Myasthénie congénitale

Myasthénie congénitale : Questions médicales fréquentes

Termes MeSH sélectionnés :

Network Meta-Analysis
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utilisés pour confirmer le diagnostic ?\nLes symptômes peuvent-ils varier selon les patients ?\nQuel rôle joue l'historique familial dans le diagnostic ?\nPeut-on diagnostiquer la myasthénie congénitale à la naissance ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Network+Meta-Analysis&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Myasthénie congénitale", "description": "Quels sont les symptômes principaux de la myasthénie congénitale ?\nLes symptômes peuvent-ils s'aggraver avec l'effort ?\nY a-t-il des symptômes oculaires associés ?\nLes symptômes apparaissent-ils à un âge spécifique ?\nLa myasthénie congénitale affecte-t-elle tous les muscles ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Network+Meta-Analysis&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Myasthénie congénitale", "description": "Peut-on prévenir la myasthénie congénitale ?\nLes tests génétiques peuvent-ils aider à la prévention ?\nLes conseils génétiques sont-ils recommandés ?\nLes femmes enceintes doivent-elles être surveillées ?\nY a-t-il des mesures préventives pour les nouveau-nés ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Network+Meta-Analysis&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Myasthénie congénitale", "description": "Quels traitements sont disponibles pour la myasthénie congénitale ?\nLes médicaments peuvent-ils améliorer les symptômes ?\nLa thérapie physique est-elle recommandée ?\nLa chirurgie est-elle une option de traitement ?\nLes traitements sont-ils adaptés à tous les patients ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Network+Meta-Analysis&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Myasthénie congénitale", "description": "Quelles complications peuvent survenir avec la myasthénie congénitale ?\nLes crises myasthéniques sont-elles graves ?\nComment prévenir les complications respiratoires ?\nLes problèmes de déglutition sont-ils fréquents ?\nLes complications peuvent-elles affecter la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Network+Meta-Analysis&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Myasthénie congénitale", "description": "Quels sont les facteurs de risque de la myasthénie congénitale ?\nLes antécédents familiaux augmentent-ils le risque ?\nLes mutations génétiques sont-elles un facteur déterminant ?\nLes anomalies congénitales sont-elles liées à la maladie ?\nLes facteurs environnementaux jouent-ils un rôle ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Network+Meta-Analysis&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer la myasthénie congénitale ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, des tests électromyographiques et des analyses génétiques." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour confirmer le diagnostic ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent l'électromyographie, le test de stimulation répétée et des tests génétiques." } }, { "@type": "Question", "name": "Les symptômes peuvent-ils varier selon les patients ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la gravité et la nature des symptômes peuvent varier d'un patient à l'autre." } }, { "@type": "Question", "name": "Quel rôle joue l'historique familial dans le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Un historique familial de myasthénie peut orienter le diagnostic vers une forme congénitale." } }, { "@type": "Question", "name": "Peut-on diagnostiquer la myasthénie congénitale à la naissance ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains cas peuvent être diagnostiqués dès la naissance par des signes cliniques." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux de la myasthénie congénitale ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent une faiblesse musculaire, des difficultés à bouger et une fatigue rapide." } }, { "@type": "Question", "name": "Les symptômes peuvent-ils s'aggraver avec l'effort ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes tendent à s'aggraver avec l'effort et s'améliorent avec le repos." } }, { "@type": "Question", "name": "Y a-t-il des symptômes oculaires associés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des symptômes comme le ptosis (chute de la paupière) et la diplopie (vision double) peuvent survenir." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils à un âge spécifique ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent apparaître dès la naissance ou se manifester plus tard dans l'enfance." } }, { "@type": "Question", "name": "La myasthénie congénitale affecte-t-elle tous les muscles ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Non, elle affecte principalement les muscles volontaires, en particulier ceux des yeux et des membres." } }, { "@type": "Question", "name": "Peut-on prévenir la myasthénie congénitale ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Étant une maladie génétique, il n'existe pas de méthode de prévention connue." } }, { "@type": "Question", "name": "Les tests génétiques peuvent-ils aider à la prévention ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent identifier les porteurs et informer les décisions reproductives." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils recommandés ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission." } }, { "@type": "Question", "name": "Les femmes enceintes doivent-elles être surveillées ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une surveillance peut être nécessaire si des antécédents familiaux de myasthénie existent." } }, { "@type": "Question", "name": "Y a-t-il des mesures préventives pour les nouveau-nés ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Les nouveau-nés à risque peuvent nécessiter une surveillance précoce pour détecter des symptômes." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour la myasthénie congénitale ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent des médicaments, la thérapie physique et parfois la chirurgie." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils améliorer les symptômes ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des médicaments comme les inhibiteurs de la cholinestérase peuvent améliorer la transmission neuromusculaire." } }, { "@type": "Question", "name": "La thérapie physique est-elle recommandée ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la thérapie physique peut aider à maintenir la force musculaire et la fonction." } }, { "@type": "Question", "name": "La chirurgie est-elle une option de traitement ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Dans certains cas, la chirurgie pour retirer le thymus peut être bénéfique." } }, { "@type": "Question", "name": "Les traitements sont-ils adaptés à tous les patients ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements doivent être individualisés en fonction de la gravité et des symptômes du patient." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la myasthénie congénitale ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des crises myasthéniques, des infections respiratoires et des problèmes de déglutition." } }, { "@type": "Question", "name": "Les crises myasthéniques sont-elles graves ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les crises peuvent entraîner une faiblesse musculaire sévère et nécessiter une intervention médicale urgente." } }, { "@type": "Question", "name": "Comment prévenir les complications respiratoires ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Une surveillance étroite et un traitement précoce des infections peuvent aider à prévenir ces complications." } }, { "@type": "Question", "name": "Les problèmes de déglutition sont-ils fréquents ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les problèmes de déglutition peuvent survenir et nécessiter une évaluation par un spécialiste." } }, { "@type": "Question", "name": "Les complications peuvent-elles affecter la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de la myasthénie congénitale ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des anomalies congénitales." } }, { "@type": "Question", "name": "Les antécédents familiaux augmentent-ils le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un historique familial de myasthénie congénitale augmente le risque de développer la maladie." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles un facteur déterminant ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des mutations dans des gènes spécifiques sont souvent responsables de la myasthénie congénitale." } }, { "@type": "Question", "name": "Les anomalies congénitales sont-elles liées à la maladie ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certaines anomalies congénitales peuvent être associées à un risque accru de myasthénie congénitale." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les facteurs environnementaux ne sont pas considérés comme des contributeurs significatifs." } } ] } ] }

Sources (10000 au total)

Diagnostic yield and safety of diagnostic techniques for pulmonary lesions: systematic review, meta-analysis and network meta-analysis.

With recent advancements in bronchoscopic procedures, data on the best modality to sample peripheral pulmonary lesions (PPLs) is lacking, especially comparing bronchoscopy with computed tomography-gui... We performed a meta-analysis, pairwise meta-analysis and network meta-analysis on studies reporting diagnostic yield and complications with the use of CT-TBNA, radial endobronchial ultrasound (rEBUS),... We included 363 studies. The overall pooled diagnostic yield was 78.1%, the highest with CT-TBNA (88.9%), followed by RAB (84.8%) and the least with rEBUS (72%). In the pairwise meta-analysis, only rE... Although CT-TBNA is the most effective approach to sample PPLs, RAB has a comparable diagnostic yield with a lesser complication rate. Further prospective studies are needed comparing CT-TBNA and RAB....

Topical anti-inflammatory treatments for eczema: network meta-analysis.

Eczema (atopic dermatitis) is the most burdensome skin condition worldwide and cannot currently be prevented or cured. Topical anti-inflammatory treatments are used to control eczema symptoms, but the... To compare and rank the efficacy and safety of topical anti-inflammatory treatments for people with eczema using a network meta-analysis.... We searched the Cochrane Skin Specialised Register, CENTRAL, MEDLINE, Embase and trial registries on 29 June 2023, and checked the reference lists of included studies.... We included within-participant or between-participant randomised controlled trials (RCTs) in people of any age with eczema of any severity, but excluded trials in clinically infected eczema, seborrhoe... We used standard Cochrane methods. Primary outcomes were patient-reported eczema symptoms, clinician-reported eczema signs and investigator global assessment. Secondary outcomes were health-related qu... We included 291 studies involving 45,846 participants with the full spectrum of eczema severity, mainly conducted in high-income countries in secondary care settings. Most studies included adults, wit... Potent TCS, JAK inhibitors and tacrolimus 0.1% were consistently ranked as amongst the most effective topical anti-inflammatory treatments for eczema and PDE-4 inhibitors as amongst the least effectiv...

Systemic corticosteroids for the prevention of bronchopulmonary dysplasia, a network meta-analysis.

Despite considerable improvement in outcomes for preterm infants, rates of bronchopulmonary dysplasia (BPD) remain high, affecting an estimated 33% of very low birthweight infants, with corresponding ... To determine whether differences in efficacy and safety exist between high-dose dexamethasone, moderate-dose dexamethasone, low-dose dexamethasone, hydrocortisone, and placebo in the prevention of BPD... We searched the Cochrane Library for all systematic reviews of systemic corticosteroids for the prevention of BPD and searched for completed and ongoing studies in the following databases in January 2... We included randomized controlled trials (RCTs) in preterm infants (< 37 weeks' gestation) at risk for BPD that evaluated systemic corticosteroids (high-dose [≥ 4 mg/kg cumulative dose] dexamethasone,... Our main information sources were the systematic reviews, with reference to the original manuscript only for data not included in these reviews. Teams of two paired review authors independently perfor... We included 59 studies, involving 6441 infants, in our analyses. Only six of the included studies provided direct comparisons between any of the treatment (dexamethasone or hydrocortisone) groups, for... Low-dose dexamethasone increased the risk for cerebral palsy (RR 1.92, 95% CI 1.12 to 3.28; moderate-certainty evidence) compared with control. Hydrocortisone may decrease the risk of major neurosenso... No effect was observed for the outcomes of major neurosensory disability or cerebral palsy. The evidence for the primary outcomes was of overall low certainty, with notable deductions for imprecision ... While early treatment with moderate-dose dexamethasone or late treatment with high-dose dexamethasone may lead to the best effects for survival without BPD, the certainty of the evidence is low. There...

Percutaneous coronary intervention in calcified stenoses: a protocol for a systematic review with meta-analysis, trial sequential analysis and network meta-analysis.

Severely calcified coronary stenoses are difficult to treat with percutaneous coronary interventions. The presence of severe calcifications complicates lesion preparation, advancement of stents and ac... We will conduct a systematic review of randomised trials enrolling patients with calcified coronary artery disease undergoing percutaneous coronary intervention. We will investigate any percutaneous t... No ethics approval is required for this study. The results will be published in a peer-reviewed journal in this field.... CRD42021226034....

Adverse effects of immunotherapies for multiple sclerosis: a network meta-analysis.

Multiple sclerosis (MS) is a chronic disease of the central nervous system that affects mainly young adults (two to three times more frequently in women than in men) and causes significant disability ... To compare adverse effects of immunotherapies for people with MS or clinically isolated syndrome (CIS), and to rank these treatments according to their relative risks of adverse effects through networ... We searched CENTRAL, PubMed, Embase, two other databases and trials registers up to March 2022, together with reference checking and citation searching to identify additional studies.... We included participants 18 years of age or older with a diagnosis of MS or CIS, according to any accepted diagnostic criteria, who were included in randomized controlled trials (RCTs) that examined o... We used standard Cochrane methods for data extraction and pairwise meta-analyses. For NMAs, we used the netmeta suite of commands in R to fit random-effects NMAs assuming a common between-study varian... This NMA included 123 trials with 57,682 participants... We found mostly low and very low-certainty evidence that drugs used to treat MS may not increase SAEs, but may increase withdrawals compared with placebo. The results suggest that there is no importan...

Impact of SGLT2 inhibitors on patient outcomes: a network meta-analysis.

A comprehensive network meta-analysis comparing the effects of individual sodium-glucose cotransporter 2 (SGLT2) inhibitors on patients with and without comorbidities including diabetes mellitus (DM),... We searched PubMed, Embase, Cochrane, and ClinicalTrials.gov for randomized controlled trials up to March 28, 2023. Network meta-analysis using a random-effects model was conducted to calculate risk r... A total of fourteen trials with 75,334 patients were analyzed. Among these, 40,956 had taken SGLT2 inhibitors and 34,378 had not. One of the main results with particular findings was empagliflozin use... Our network meta-analysis revealed that empagliflozin users with diabetes experienced a lower risk of dying from any cause than those using dapagliflozin. Additionally, canagliflozin users demonstrate... PROSPERO [CRD42022361906]....

A network meta-analysis of surgical treatments of complete rectal prolapse.

Surgical treatment of complete rectal prolapse can be undertaken via an abdominal or a perineal approach. The present network meta-analysis aimed to compare the outcomes of different abdominal and per... A PRISMA-compliant systematic review of PubMed, Scopus, and Web of Science was conducted. Randomized clinical trials comparing two or more procedures for the treatment of complete rectal prolapse were... Nine randomized controlled trials with 728 patients were included. The follow-up ranged between 12 and 47 months. Posterior mesh rectopexy had significantly lower odds of recurrence than did the Altem... Posterior mesh rectopexy ranked best with the lowest recurrence while perineal procedures ranked worst with the highest recurrence rates....

Efficacy and safety of COVID-19 vaccines: A network meta-analysis.

Several vaccines showed a good safety profile and significant efficacy against COVID-19. Moreover, in the absence of direct head to head comparison between COVID-19 vaccines, a network meta-analysis t... Databases PubMed, CENTRAL, medRxiv, and clinicaltrials.gov were searched. Studies were included if they were placebo-controlled clinical trials and reported the safety profile and/or effectiveness of ... Forty-nine clinical trials that included 421,173 participants and assessed 28 vaccines were included in this network meta-analysis. The network meta-analysis showed that Pfizer is the most effective i... We found that almost all of the vaccines included in this study crossed the threshold of 50% efficacy. However, some of them did not reach the previously mentioned threshold against the B.1.351 varian...