Titre : Gangliosides

Gangliosides : Questions médicales fréquentes

Termes MeSH sélectionnés :

Delphi Technique
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réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-05", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Gangliosides", "description": "Comment diagnostiquer une maladie liée aux gangliosides ?\nQuels tests sont utilisés pour détecter les gangliosides ?\nLes symptômes peuvent-ils indiquer un problème de gangliosides ?\nQuelle imagerie est utile pour évaluer les gangliosides ?\nLes antécédents familiaux sont-ils importants pour le diagnostic ?", "url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Delphi+Technique&page=4#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Gangliosides", "description": "Quels sont les symptômes courants des gangliosidoses ?\nLes gangliosides affectent-ils le système nerveux ?\nPeut-on observer des symptômes cutanés ?\nLes troubles cognitifs sont-ils liés aux gangliosides ?\nLes douleurs musculaires sont-elles un symptôme ?", "url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Delphi+Technique&page=4#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Gangliosides", "description": "Peut-on prévenir les gangliosidoses ?\nLe conseil génétique est-il recommandé ?\nLes vaccinations peuvent-elles aider ?\nL'alimentation peut-elle jouer un rôle préventif ?\nLes tests de dépistage sont-ils utiles ?", "url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Delphi+Technique&page=4#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Gangliosides", "description": "Quels traitements existent pour les gangliosidoses ?\nLa thérapie génique est-elle une option ?\nLes médicaments peuvent-ils aider ?\nY a-t-il des traitements expérimentaux disponibles ?\nLe soutien nutritionnel est-il important ?", "url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Delphi+Technique&page=4#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Gangliosides", "description": "Quelles complications peuvent survenir ?\nLes gangliosidoses peuvent-elles entraîner des handicaps ?\nY a-t-il un risque accru de maladies associées ?\nLes complications sont-elles réversibles ?\nComment gérer les complications ?", "url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Delphi+Technique&page=4#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Gangliosides", "description": "Quels sont les facteurs de risque des gangliosidoses ?\nLes origines ethniques influencent-elles le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes antécédents médicaux familiaux sont-ils significatifs ?\nLes mutations génétiques sont-elles héréditaires ?", "url": "https://questionsmedicales.fr/mesh/D005732?mesh_terms=Delphi+Technique&page=4#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une maladie liée aux gangliosides ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests génétiques, des analyses biochimiques et des biopsies." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour détecter les gangliosides ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests sanguins et des analyses de tissus peuvent être effectués pour détecter les gangliosides." } }, { "@type": "Question", "name": "Les symptômes peuvent-ils indiquer un problème de gangliosides ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des symptômes neurologiques ou musculaires peuvent suggérer une dysfonction des gangliosides." } }, { "@type": "Question", "name": "Quelle imagerie est utile pour évaluer les gangliosides ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'IRM peut aider à visualiser les anomalies cérébrales associées aux gangliosidoses." } }, { "@type": "Question", "name": "Les antécédents familiaux sont-ils importants pour le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les antécédents familiaux de maladies génétiques peuvent orienter le diagnostic." } }, { "@type": "Question", "name": "Quels sont les symptômes courants des gangliosidoses ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des troubles neurologiques, des retards de développement et des problèmes moteurs." } }, { "@type": "Question", "name": "Les gangliosides affectent-ils le système nerveux ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les gangliosides sont essentiels pour le fonctionnement normal du système nerveux." } }, { "@type": "Question", "name": "Peut-on observer des symptômes cutanés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Certaines gangliosidoses peuvent provoquer des lésions cutanées ou des anomalies pigmentaires." } }, { "@type": "Question", "name": "Les troubles cognitifs sont-ils liés aux gangliosides ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles cognitifs peuvent survenir en raison de l'accumulation de gangliosides dans le cerveau." } }, { "@type": "Question", "name": "Les douleurs musculaires sont-elles un symptôme ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des douleurs musculaires peuvent être présentes en raison de l'atteinte des gangliosides." } }, { "@type": "Question", "name": "Peut-on prévenir les gangliosidoses ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est limitée, mais le dépistage génétique peut aider à identifier les porteurs." } }, { "@type": "Question", "name": "Le conseil génétique est-il recommandé ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le conseil génétique est conseillé pour les familles à risque de gangliosidoses." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles aider ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Les vaccinations ne préviennent pas les gangliosidoses, mais protègent contre d'autres maladies." } }, { "@type": "Question", "name": "L'alimentation peut-elle jouer un rôle préventif ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée peut soutenir la santé générale, mais ne prévient pas les gangliosidoses." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils utiles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests de dépistage peuvent identifier les porteurs de mutations génétiques." } }, { "@type": "Question", "name": "Quels traitements existent pour les gangliosidoses ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la thérapie enzymatique, la gestion des symptômes et le soutien psychologique." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en cours d'étude pour certaines gangliosidoses, mais n'est pas encore standard." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Certains médicaments peuvent soulager les symptômes, mais ne traitent pas la cause sous-jacente." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux disponibles ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des essais cliniques sont en cours pour de nouveaux traitements des gangliosidoses." } }, { "@type": "Question", "name": "Le soutien nutritionnel est-il important ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un soutien nutritionnel peut aider à améliorer la qualité de vie des patients." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques graves, des infections et des problèmes respiratoires." } }, { "@type": "Question", "name": "Les gangliosidoses peuvent-elles entraîner des handicaps ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines gangliosidoses peuvent entraîner des handicaps physiques ou mentaux permanents." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de maladies associées ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients peuvent avoir un risque accru de maladies auto-immunes ou métaboliques." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "La plupart des complications des gangliosidoses ne sont pas réversibles et nécessitent une gestion." } }, { "@type": "Question", "name": "Comment gérer les complications ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "La gestion des complications nécessite une approche multidisciplinaire incluant médecins et thérapeutes." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque des gangliosidoses ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des origines ethniques spécifiques." } }, { "@type": "Question", "name": "Les origines ethniques influencent-elles le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines populations, comme les Ashkénazes, ont un risque plus élevé de gangliosidoses." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques." } }, { "@type": "Question", "name": "Les antécédents médicaux familiaux sont-ils significatifs ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents médicaux de maladies métaboliques augmentent le risque de gangliosidoses." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles héréditaires ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations génétiques responsables des gangliosidoses sont souvent héréditaires." } } ] } ] }

Sources (10000 au total)

Defining competencies for nurse anaesthetists: A Delphi study.

To define the competencies of nurse anaesthetists in the hospitals of Catalonia on the basis of their clinical practice through a consensus-building process.... We used the Delphi method to determine consensus among a group of 16 nurse anaesthetists.... Between February and June 2020, we administered a questionnaire of 142 questions distributed among seven domains: expert, communicator, collaborator, manager, health advocate, scholar and professional... In round 1, 18 competencies were discarded and nine had inconclusive results. Eighteen competencies were proposed by participants. The nine competencies with inconclusive results and the 18 newly prop... Health education and the empowerment of the patient and family are fundamental pillars in the practice of nurse anaesthetists in Spain, especially in pre-anaesthetic assessment and pain care. These ar... The lack of regulation of the competencies of nurse anaesthetists leads to great variability in training and practice. The results can help in their standardization in Spain and in other countries lac...

Research priorities in trans health: a Delphi-study.

Progress has been made in understanding trans health needs, but research priorities are often set by policy or healthcare professionals without trans input, which may not reflect public needs. Our stu... Expert stakeholders (health and social sciences professionals, trans individuals, and their families) answered a three-round Delphi survey on trans health research priorities. The first round involved... 53 participants (32% trans individuals/relatives, 60% health professionals) contributed 217 responses to open-ended questions, leading to 44 research priorities. After the two voting rounds, a total o... The main consensus in our French study concerned research on trans-youth care and support needs. Our results may guide further trans-health research that meets the public's needs and desires....

Diagnosis and treatment of cholangiocarcinoma in Italy: A Delphi consensus statement.

Clinical practice guidelines for the management of cholangiocarcinoma (CCA)/biliary tract cancer recommend genomic profiling to guide treatment decisions. Variable access to such profiling across Ital... A Scientific Board of Italian oncologists who treat CCA (the authors) developed recommendations, based on recent clinical evidence, for using molecular testing in diagnosing, assessing, and treating C... Consensus was reached on 28 statements across four themes: (1) epidemiology and risk factors; (2) diagnosis, including molecular diagnosis; (3) treatment selection; and (4) treatment safety.... These recommendations should aid Italian clinicians in selecting appropriate treatment options for their patients....

Defining and reporting activity patterns: a modified Delphi study.

Despite significant interest in assessing activity patterns in different populations, there has been no consensus concerning the definition and operationalisation of this term. This has limited the co... The activity patterns literature was searched to identify experts to be invited to participate and to develop a proposed definition of activity patterns and activity pattern components. A three-round ... Twenty experts in activity patterns research participated in Round 1, with response rates of 80% and 60% in Rounds 2 and 3, respectively. The proposed activity pattern definition, all activity pattern... This modified Delphi study achieved consensus for defining and reporting activity patterns for the first time. This consensus definition enables standardisation of activity patterns terminology, which...

Construction of a competency framework of dental hygienists: A Delphi study.

To explore the basic and core competencies of dental hygienists, construct a systematic and scientific competency framework for dental hygienists taking into account China's national conditions and pr... The establishment of dental hygienists role is essential for the public to improve the dental health level. Currently, more than 50 countries around the world have established the role of dental hygie... Based on the literature review and theoretical research, this study explored the theoretical basis and fundamental principle of constructing the competency framework for dental hygienists. Moreover, a... The three rounds of Delphi consultation experts were from nursing, stomatology and management and other fields. Three rounds of Delphi results showed that the expert authority, enthusiasm and coordina... Literature and theoretical research methods along with Delphi expert consultation were used to construct the competency framework of dental hygienists based on the onion model. The competency framewor...

Understanding complexity in psychological services: A modified Delphi study.

The concept of patient or case complexity is relevant-and widely used-at all levels and stages of mental health service provision, but there have been few methodologically robust attempts to define th... Applied psychologists in a single urban/suburban UK National Health Service setting took part in a three-round modified Delphi study. Twenty-eight respondents in Round 1 gave qualitative data on facto... Thirteen factors contributing to patient/case complexity (active severe/enduring mental health, current coping/functioning, engagement, forensic history, iatrogenic factors, interpersonal functioning,... We conclude that applied psychologists do have a shared understanding of complexity and make recommendations for further research validating, developing and applying this empirically derived framework...

A Swiss digital Delphi study on patient-reported outcomes.

Health-related quality of life (HRQoL) indicators are patient-reported outcomes (PROs). PROs are defined as any report of the status of a patient's health condition or health behaviour that comes dire... A 4-round digital Delphi study was conducted among Swiss PRO stakeholders. A total of n = 21 Swiss PROM stakeholders completed round 1 surveys on the PROM framework. During the stakeholder meeting, n ... Pre-meeting, agreement was reached for the tripartite framework of physical, mental and social health (95-100%). During the meeting, agreement was reached on all seven measurement domains of a generic... A Delphi method can help identify areas of need regarding PROMs in Switzerland. The current study identified a generic PROM as a missing quality indicator for the Swiss national health system's value....

[Practical management of PARP inhibitors: A French DELPHI consensus].

Despite an increasing number of therapeutic indications, there are no specific recommendations regarding the management of PARP inhibitors other than what is specified in the SmPC of each substance. A... Following the Delphi method, statements to optimize PARP inhibitor management were drafted by a multidisciplinary Steering Committee made up of 17 experts. These statements were submitted to the indep... This article presents 52 statements on the following topics: initiation and treatment; management of adverse events (hematological effects, gastrointestinal effects, renal effects, pulmonary effects, ... This paper is the first Delphi consensus on the practical management of PARP inhibitors. The pragmatic recommendations resulting from this paper should make it possible to manage the side effects of P...

Core competencies for a biomedical laboratory scientist - a Delphi study.

After completing university education, biomedical laboratory scientists work in clinical laboratories, in biomedical research laboratories, in biotech, and in pharmaceutical companies. Laboratory diag... A modified Delphi technique was used, with the panel of experts expressing their views in a series of three questionnaire. Consensus was defined as the point which 75 % or more of the panel participan... The study highlights the perceived importance of mostly generic competencies that relate to quality, quality assurance, and accuracy, as well as different aspects of safety, respect, trustworthiness (... We identified important competencies for biomedical laboratory scientists. Together with complementary information from other sources, i.e., guidelines, laws, and scientific publications, the competen...