Titre : Myasthénie congénitale

Myasthénie congénitale : Questions médicales fréquentes

Termes MeSH sélectionnés :

Pilot Projects
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diagnostic ?\nPeut-on diagnostiquer la myasthénie congénitale à la naissance ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Pilot+Projects&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=Pilot+Projects&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=Pilot+Projects&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=Pilot+Projects&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=Pilot+Projects&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=Pilot+Projects&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 (10000 au total)

Service Demand for and Awareness of a Primary Healthcare Pilot Project for People With Disabilities.

This study investigated the demand for and awareness of a primary healthcare pilot project for people with disabilities; it also sought to identify relevant determinants for demand and awareness using... This study is a secondary analysis of data from the population-based survey conducted in Gyeonggi Regional Health & Medical Center for People with Disabilities. The data was designed with quota ra... Awareness of the service (12.1%) was remarkably low, while the demand (80.5%) was high. The gap between respondents who needed the service but were unaware of it differed according to age, education, ... Chronic disease and an unmet need for medical care were key determinants of service demand, while the severity of disability was not. Thus, there is a need to review the initiative that defines servic...

[The KomMent study: a pilot project on structured interprofessional communication in uro-oncology].

Communication and interprofessional collaboration with patients diagnosed with cancer is challenging. Structured communication training has not yet been integrated into postgraduate medical education.... A needs assessment was conducted using focus groups and individual interviews. Learning objectives were aligned with (inter)national learning objective catalogs. The ICT was developed using the six-st... Physician participation rates in the workshops were 83.0% and nursing participation rates were 58.3%. Utilization of the workplace-based training was 97%. The physicians evaluated the ICT very positiv... The implementation of an ICT with 80 teaching units is successfully feasible in a urological clinic and leads to a sustainable improvement of the communication culture, among other things through ment...

[Psychiatric-Psychotherapeutic Care in Crisis: Results of the LeiP#Netz Pilot Project].

Analysis of psychiatric-psychotherapeutic crisis services in the Leipzig Psychiatry Network (LeiP#netz), assigning the services to the functional areas of the FBM according to Steinhart and Wienberg.... A standardized survey of crisis care was conducted using the functions "complex outpatient treatment", "access to acute psychotherapy in crisis", and "24 h complex, intensive treatment" by means of fa... A total of 31 measures were recorded for the three functions. All crisis care services were highly utilized; in up to one-third of cases, no services could be provided when demand was requested. Servi... Crisis care services for severely mentally ill people are available in various constellations in the study region. Low-threshold 24/7 crisis services need to be expanded....

Adaptation of Screening Tools for Social Determinants of Health in Pregnancy: A Pilot Project.

Social determinants of health (SDOH) and stress during pregnancy may contribute to adverse pregnancy outcomes. The objective of this in the field pilot project was to develop a comprehensive screening... Pregnant patients accessing prenatal care at a single site of an urban Federally Qualified Health Center were recruited during prenatal visits to complete a Social Determinants of Health in Pregnancy ... Between April 2018 and March 2019, 135 pregnant participants completed SIPT. Ninety-one percent of patients scored positive on at least one screener, 54% to three or more screeners.... Despite guidelines to screen for SDOH during pregnancy there is no universal tool. Our pilot project demonstrated the concurrent use of adapted screening tools where participants reported at least one...

Colorectal Cancer Screening Pilot Project in Tehran-Iran, a Feasibility Study.

Colorectal cancer (CRC) is the third most common cancer in Iran, where there is no organised CRC-screening programme. This study aimed to evaluate feasibility of CRC screening using a qualitative feca... In this feasibility study, 7039 individuals aged 50-75 years were invited by community health workers (CHWs) in southern Tehran and its suburban districts between April 2018 and November 2019. The CHW... Acceptance rate at initial invitation was 71.7%. From 4974 average-risk adults (1600 males and 3374 females) who were offered FIT, 96.8% (n=4813) provided valid samples, of whom 471 (9.8%) tested posi... Our results partially support the feasibility of scaling up organized CRC-screening through the existing healthcare system in Iran; it remains to be discussed carefully to ensure the capacity of healt...

Conducting two evidence syntheses in six weeks - experiences with and evaluation of a pilot project.

Evidence synthesis organisations are trying to meet commissioners' needs for rapid responses to their evidence synthesis commissions. In this project we piloted an intensive process, working to comple... In a pre-planning phase, an intensive work group was established, and two commissions were selected for this pilot project. The evidence synthesis process was divided into two phases: planning and int... During the planning phase, teams identified significant uncertainties regarding scopes, research questions, and inclusion criteria. To address this, they engaged with commissioners earlier than origin... Overall, the intensive process fostered focus and productivity, allowing teams to manage short-term deliverables effectively. The researchers preferred working intensively with one evidence synthesis ...

[Implementation of a Pilot Project Supporting Parents Suffering from Cancer with Underage Children].

Families with one parent suffering from cancer are exposed to extraordinary emotional and organizational burdens, affecting underaged children. To help coordinated access to social and logistic suppor... A cross-sectional observational study was conducted using a mixed-method approach. Semi-structured written expert surveys (n=10) and secondary analysis of routine data of the care model (n=171 familie... Quantitative secondary analysis: The participating families had 1-7 children (median (m) 2, range (s) 6). In 66% of the cases, the mother was affected by cancer, in 20% the diseased parent was in a si... The data collected indicate that in families, matching the German average in their socio-demographic characteristics, a great need for organizational support develops as soon as one parent becomes sic...

A pilot project of expert nurses for the follow-up of complex intravenous antimicrobial treatment.

To report a pilot project of expert nurses for outpatient parenteral antimicrobial treatment (OPAT) follow-up.... Three nurses with specific training on antibiotics started a state-funded programme including: i) consultations for OPAT follow-up; ii) hotline for satellite hospitals; iii) peer training. Patients' d... From December 2020 to December 2021, 118 patients (median age 66.5 years [52-75], male-to-female ratio 2.5) were enrolled, for a total of 621 consultations. Patients were mostly on OPAT for bone and j... Nurses may be important actors for OPAT follow-up....

Implementation of entrustable professional activities into fellowship council accredited programs: a pilot project.

The Fellowship Council (FC) is transitioning to a competency-based medical education (CBME) model, including the introduction of Entrustable Professional Activities (EPAs) for training and assessment ... The FC coordinated the development of EPAs in collaboration with the sponsoring societies for Advanced GI/MIS, Bariatrics, Foregut, Endoscopy and Hepatopancreaticobiliary (HPB) fellowships encompassin... The 15 participating programs included 18 fellows and 106 faculty. A total of 655 assessments were initiated with 429 (65%) completed. The average (SD) number of EPAs completed for each fellow was 24(... A competency-based assessment framework was developed by the FC and piloted in several programs. Participation was variable and required ongoing strategies to address barriers. The pilot project has p...