Titre : Myasthénie congénitale

Myasthénie congénitale : Questions médicales fréquentes

Termes MeSH sélectionnés :

Colonic Polyps
{ "@context": "https://schema.org", "@graph": [ { "@type": "MedicalWebPage", "name": "Myasthénie congénitale : Questions médicales les plus fréquentes", "headline": "Myasthénie congénitale : Comprendre les symptômes, diagnostics et traitements", "description": "Guide complet et accessible sur les Myasthénie congénitale : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.", "datePublished": "2024-02-22", "dateModified": "2025-02-16", "inLanguage": "fr", "medicalAudience": [ { "@type": "MedicalAudience", "name": "Grand public", "audienceType": "Patient", "healthCondition": { "@type": "MedicalCondition", "name": "Myasthénie congénitale" }, "suggestedMinAge": 18, "suggestedGender": "unisex" }, { "@type": "MedicalAudience", "name": "Médecins", "audienceType": "Physician", "geographicArea": { "@type": "AdministrativeArea", "name": "France" } }, { "@type": "MedicalAudience", "name": "Chercheurs", "audienceType": "Researcher", "geographicArea": { "@type": "AdministrativeArea", "name": "International" } } ], "reviewedBy": { "@type": "Person", "name": "Dr Olivier Menir", "jobTitle": "Expert en Médecine", "description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale", "url": "/static/pages/docteur-olivier-menir.html", "alumniOf": { "@type": "EducationalOrganization", "name": "Université Paris Descartes" } }, "isPartOf": { "@type": "MedicalWebPage", "name": "Myasthénie", "url": "https://questionsmedicales.fr/mesh/D009157", "about": { "@type": "MedicalCondition", "name": "Myasthénie", "code": { "@type": "MedicalCode", "code": "D009157", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C20.111.258.500" } } }, "about": { "@type": "MedicalCondition", "name": "Myasthénie congénitale", "alternateName": "Myasthenia Gravis, Neonatal", "code": { "@type": "MedicalCode", "code": "D020941", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "Nils Erik Gilhus", "url": "https://questionsmedicales.fr/author/Nils%20Erik%20Gilhus", "affiliation": { "@type": "Organization", "name": "Department of Clinical Medicine, University of Bergen, Bergen, Norway. nils.gilhus@uib.no." } }, { "@type": "Person", "name": "Yuebing Li", "url": "https://questionsmedicales.fr/author/Yuebing%20Li", "affiliation": { "@type": "Organization", "name": "" } }, { "@type": "Person", "name": "Henry J Kaminski", "url": "https://questionsmedicales.fr/author/Henry%20J%20Kaminski", "affiliation": { "@type": "Organization", "name": "Department of Neurology and Rehabilitation Medicine and." } }, { "@type": "Person", "name": "Gary Cutter", "url": "https://questionsmedicales.fr/author/Gary%20Cutter", "affiliation": { "@type": "Organization", "name": "Department of Biostatistics, University of Alabama at Birmingham, Birmingham, Alabama." } }, { "@type": "Person", "name": "Akiyuki Uzawa", "url": "https://questionsmedicales.fr/author/Akiyuki%20Uzawa", "affiliation": { "@type": "Organization", "name": "Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Colonoscopic-assisted laparoscopic wedge resection versus segmental colon resection for benign colonic polyps: a comparative cost analysis.", "datePublished": "2023-10-09", "url": "https://questionsmedicales.fr/article/37814456", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1111/codi.16757" } }, { "@type": "ScholarlyArticle", "name": "Serum biomarkers of colonic polyps in patients with acromegaly: a meta-analysis and systematic review.", "datePublished": "2022-12-21", "url": "https://questionsmedicales.fr/article/36542278", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1007/s11102-022-01287-z" } }, { "@type": "ScholarlyArticle", "name": "Performance and comparison of artificial intelligence and human experts in the detection and classification of colonic polyps.", "datePublished": "2022-12-13", "url": "https://questionsmedicales.fr/article/36513975", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1186/s12876-022-02605-2" } }, { "@type": "ScholarlyArticle", "name": "Cold snare endoscopic mucosal resection for colon polyps: a systematic review and meta-analysis.", "datePublished": "2023-07-14", "url": "https://questionsmedicales.fr/article/37451284", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1055/a-2129-5752" } }, { "@type": "ScholarlyArticle", "name": "AGA Clinical Practice Update on the Role of Artificial Intelligence in Colon Polyp Diagnosis and Management: Commentary.", "datePublished": "2023-10-17", "url": "https://questionsmedicales.fr/article/37855759", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1053/j.gastro.2023.07.010" } } ], "breadcrumb": { "@type": "BreadcrumbList", "itemListElement": [ { "@type": "ListItem", "position": 1, "name": "questionsmedicales.fr", "item": "https://questionsmedicales.fr" }, { "@type": "ListItem", "position": 2, "name": "Maladies du système immunitaire", "item": "https://questionsmedicales.fr/mesh/D007154" }, { "@type": "ListItem", "position": 3, "name": "Maladies auto-immunes", "item": "https://questionsmedicales.fr/mesh/D001327" }, { "@type": "ListItem", "position": 4, "name": "Maladies auto-immunes du système nerveux", "item": "https://questionsmedicales.fr/mesh/D020274" }, { "@type": "ListItem", "position": 5, "name": "Myasthénie", "item": "https://questionsmedicales.fr/mesh/D009157" }, { "@type": "ListItem", "position": 6, "name": "Myasthénie congénitale", "item": "https://questionsmedicales.fr/mesh/D020941" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Myasthénie congénitale - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Myasthénie congénitale", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-07", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Myasthénie congénitale", "description": "Comment diagnostiquer la myasthénie congénitale ?\nQuels tests sont 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=Colonic+Polyps&page=2#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=Colonic+Polyps&page=2#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=Colonic+Polyps&page=2#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=Colonic+Polyps&page=2#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=Colonic+Polyps&page=2#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=Colonic+Polyps&page=2#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 (7636 au total)

Colonoscopic-assisted laparoscopic wedge resection versus segmental colon resection for benign colonic polyps: a comparative cost analysis.

The colonoscopic-assisted laparoscopic wedge resection (CAL-WR) is proven to be an effective and safe alternative to a segmental colon resection (SCR) for large or complex benign colonic polyps that a... A single-centre 90-day 'in-hospital' comparative cost analysis was performed on patients undergoing CAL-WR or SCR for complex benign polyps between 2016 and 2020. The CAL-WR group consisted of 44 pati... Colonoscopic-assisted laparoscopic wedge resection was associated with significantly fewer complications (7% in the CAL-WR group vs. 45% in the SCR group, P < 0.001), shorter operation time (50 min in... Given the clinical and financial benefits, CAL-WR should be recommended for complex benign polyps that are not eligible for endoscopic resection before major surgery is considered....

Serum biomarkers of colonic polyps in patients with acromegaly: a meta-analysis and systematic review.

In the past few decades, acromegaly and colonic polyps have been associated with an increased risk of colorectal cancer. Previous studies highlighted the importance of serum biomarkers of colonic poly... We reviewed studies on serum biomarkers of colonic polyps in patients with acromegaly, published on PubMed, Embase, Cochrane Library, Medline, and Chinese databases from January 1, 1966, to May 8, 202... Eight articles were included in this study. The mean (standard deviation) concentrations of serum biomarkers for acromegaly with and without colorectal polyps were extracted from these studies. Meta-a... We present the first meta-analysis and systematic review of serum biomarkers in patients with acromegaly or colonic polyps. The prevalence of colonic lesion polyps, is associated with higher IGF-1 × U...

Performance and comparison of artificial intelligence and human experts in the detection and classification of colonic polyps.

The main aim of this study was to analyze the performance of different artificial intelligence (AI) models in endoscopic colonic polyp detection and classification and compare them with doctors with d... We searched the studies on Colonoscopy, Colonic Polyps, Artificial Intelligence, Machine Learning, and Deep Learning published before May 2020 in PubMed, EMBASE, Cochrane, and the citation index of th... A total of 16 studies were included for meta-analysis. Only one study (1/16) presented externally validated results. The area under the curve (AUC) of AI group, expert group and non-expert group for d... The performance of AI in polyp detection and classification is similar to that of human experts, with high sensitivity and moderate specificity. Different tasks may have an impact on the performance o...

Cold snare endoscopic mucosal resection for colon polyps: a systematic review and meta-analysis.

Cold snare endoscopic mucosal resection (CS-EMR) can reduce the risks associated with electrocautery during colon polyp resection. Data on efficacy are variable. This systematic review and meta-analys... We conducted a comprehensive literature search of multiple databases, from inception to March 2023, for studies addressing outcomes of CS-EMR for colon polyps. The weighted pooled estimates with 95 %C... 4137 articles were reviewed, and 16 studies, including 2592 polyps in 1922 patients (51.4 % female), were included. Overall, 54.4 % of polyps were adenomas, 45 % were sessile serrated lesions (SSLs), ... CS-EMR demonstrated an excellent safety profile for colon polyps, with variable recurrence rates based on polyp size and histology. Large prospective studies are needed to validate these findings....

AGA Clinical Practice Update on the Role of Artificial Intelligence in Colon Polyp Diagnosis and Management: Commentary.

The purpose of this American Gastroenterological Association (AGA) Institute Clinical Practice Update (CPU) is to review the available evidence and provide expert commentary on the current landscape o... This CPU was commissioned and approved by the AGA Institute Clinical Practice Updates Committee (CPUC) and the AGA Governing Board to provide timely guidance on a topic of high clinical importance to ...

Impact of margin ablation after EMR of large nonpedunculated colonic polyps in routine clinical practice.

Owing to its simplicity, effectiveness, and safety, EMR is the preferred treatment for the majority of large (≥20 mm) nonpedunculated colonic polyps (LNPCPs); however, residual and recurrent adenomas ... We analyzed data collected in 3 hospitals in Israel: Prospective data were available in 2 hospitals where margin thermal ablation with snare-tip soft coagulation (STSC) is routinely performed after EM... Data from 764 patients with 824 LNPCPs were analyzed. The patient and lesion characteristics were similar between the groups. Four hundred sixty-four LNPCPs were treated by TA-EMR and 360 LNPCPs by S-... TA-EMR leads to a significant reduction in post-EMR recurrence in routine clinical practice....

Polyp detection in the cecum and ascending colon by dye based chromoendoscopy - Is its routine use justified?

colonoscopy is the best method for detecting polyps, with a reduction in colorectal cancer mortality of 29% and reaching 47% for distal tumors. However, it fails to demonstrate a significant reduction... prospective, non-randomized clinical trial. Patients were divided into two groups. The first (G1) underwent a routine colonoscopy, followed by a second endoscopy assessment of ascending colon and cecu... In total, 203 patients were analyzed, 101 in the G1 and 102 in the G2. Newer polyps were identified in both groups after the second assessment with a significantly higher number of polyps detected in ... the second assessment with dye-based chromoendoscopy increases the detection of polyps in the ascending colon and cecum....

Do surface morphology and pit pattern have a role in predicting cancer for colon polyps in North America?

The surface morphology of colorectal polyps is well correlated with submucosal invasion in Eastern Countries but not in North America. We aimed to investigate associations between the Paris classifica... We retrospectively analyzed prospectively collected data of consecutive advanced endoscopic procedures conducted by a single surgeon between August 2017 and October 2018. The data included patients' d... The study consisted of 138 lesions, and the mean age was 67 ± 10 years. The most common polyp locations were cecum (n = 41, 30%) followed by ascending colon (n = 28, 20%), and sigmoid colon (n = 18, 1... Surface morphology and pit pattern can predict submucosal invasion in the North American patient population. Polyp morphology may aid polyp selection for advanced endoscopic interventions....