questionsmedicales.fr
Lipides
Lipides membranaires
Sphingolipides
Glycosphingolipides
Glycosphingolipides acides
Gangliosides
Gangliosides : Questions médicales fréquentes
Termes MeSH sélectionnés :
Practice Guidelines as Topic
Diagnostic
5
Maladies métaboliques
Tests génétiques
Symptômes neurologiques
Dysfonction musculaire
Imagerie par résonance magnétique
Anomalies cérébrales
Antécédents familiaux
Maladies génétiques
Symptômes
5
Troubles neurologiques
Retard de développement
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Lésions cutanées
Anomalies pigmentaires
Troubles cognitifs
Accumulation de gangliosides
Douleurs musculaires
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Prévention
5
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Vaccinations
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Alimentation équilibrée
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Tests de dépistage
Mutations génétiques
Traitements
5
Thérapie enzymatique
Gestion des symptômes
Thérapie génique
Recherche médicale
Essais cliniques
Traitements expérimentaux
Soutien nutritionnel
Qualité de vie
Complications
5
Complications neurologiques
Infections
Handicaps
Dysfonctionnement
Maladies auto-immunes
Maladies métaboliques
Complications
Gestion des symptômes
Gestion des complications
Approche multidisciplinaire
Facteurs de risque
5
Antécédents familiaux
Mutations génétiques
Origines ethniques
Risque génétique
Facteurs environnementaux
Risque
Antécédents médicaux
Maladies métaboliques
Mutations héréditaires
Transmission génétique
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"name": "Le conseil génétique est-il recommandé ?",
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"name": "Les vaccinations peuvent-elles aider ?",
"position": 13,
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"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 14,
"acceptedAnswer": {
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"text": "Une alimentation équilibrée peut soutenir la santé générale, mais ne prévient pas les gangliosidoses."
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"name": "Les tests de dépistage sont-ils utiles ?",
"position": 15,
"acceptedAnswer": {
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"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."
}
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{
"@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."
}
},
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"@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."
}
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"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
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"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
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"name": "Les antécédents médicaux familiaux sont-ils significatifs ?",
"position": 29,
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"text": "Oui, des antécédents médicaux de maladies métaboliques augmentent le risque de gangliosidoses."
}
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"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
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"@type": "Answer",
"text": "Oui, les mutations génétiques responsables des gangliosidoses sont souvent héréditaires."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 31/03/2025
Contenu vérifié selon les dernières recommandations médicales
6 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy. sandro.sonnino@unimi.it.
5 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy.
Publications dans "Gangliosides" :
5 publications dans cette catégorie
Affiliations :
Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Core for Medicine and Science Collaborative Research and Education (MS-CORE), Project Research Center for Fundamental Sciences, Osaka University, Japan.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Departments of Pharmacology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Segrate, Italy.
Publications dans "Gangliosides" :
4 publications dans cette catégorie
Affiliations :
Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Research team for Geriatric Medicine (Vascular Medicine), Tokyo Metropolitan Institute of Gerontology, Sakaecho 35-2, Itabashi-ku, Tokyo 173-0015, Japan.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Research team for Geriatric Medicine (Vascular Medicine), Tokyo Metropolitan Institute of Gerontology, Sakaecho 35-2, Itabashi-ku, Tokyo 173-0015, Japan.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
J. Heyrovský Institute of Physical Chemistry of the Czech Academy of Sciences, Prague 8, Czech Republic.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
J. Heyrovský Institute of Physical Chemistry of the Czech Academy of Sciences, Prague 8, Czech Republic.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
J. Heyrovský Institute of Physical Chemistry of the Czech Academy of Sciences, Prague 8, Czech Republic.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Department of Pharmacology, Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Via Fratelli Cervi 93, Segrate, Milano, 20054, Italy. elena.chiricozzi@unimi.it.
Publications dans "Gangliosides" :
3 publications dans cette catégorie
Affiliations :
Department of Medical Biotechnology and Translational Medicine, University of Milano, Via Fratelli Cervi 93, Segrate, Milano, 20054, Italy.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Social Medicine and Health Education, School of Public Health, Peking University, Beijing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Publications dans "Gangliosides" :
2 publications dans cette catégorie
Affiliations :
Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing, China. Email: yumeiz2020@126.com.
Publications dans "Gangliosides" :
Despite broad agreement on the health impact of climate change, climatic considerations are still not widespread in the domain of medical practice. Methods to compile and assess climate-related eviden...
The present article explores the conflict between ethical and clinical implications of climate change comparing two guidelines. This comparison highlights barriers and opportunities to guideline devel...
A selective literature search and analysis of two clinical practice guidelines was performed....
Despite partly rigorous appraisal of existing evidence, both guidelines offer consensus-based recommendations only. Narrative evidence syntheses, in which the climate models underlying the reported da...
The urgency of climate change requires actions on all fronts. As contributions to the public discourse, guidelines should discuss adaptation strategies to climate change as well as mitigation measures...
The American Society of Anesthesiologists released practice guidelines for central venous access in 2020, and the entire world literature was examined for evidence on how to perform the entire process...
In September 2023, the guideline on the prophylaxis, diagnosis, and treatment of osteoporosis in postmenopausal women and men was published as a completely revised guideline. The implications for prac...
Sepsis remains a complex and costly disease with high morbidity and mortality. This article discusses Sepsis-2 and Sepsis-3 definitions, highlighting the 2021 Surviving Sepsis International guidelines...
It is an honor and a great pleasure for us to be guest editors for this special issue of...
Given the recent rise in the use of remote assessments to collect data from young children, researchers and practitioners would benefit from guidance on best practices within the field. Based on our e...
The Japanese Society of Gastroenterology first published evidence-based clinical practice guidelines for cholelithiasis in 2010, followed by a revision in 2016. Currently, the revised third edition wa...
To review the available information on clinical practice guidelines for person-centred and current handover practices between emergency care practitioners (ECPs) and healthcare professionals in emerge...
Clinical practice guidelines for person-centred handover practices between ECPs and healthcare professionals in EDs. ECPs transporting and handing patients over to healthcare professionals in EDs. Hea...
The literature on clinical practice guidelines for person-centred handover practices was reviewed. Three electronic databases were searched: MEDLINE (PubMed), CINAHL (EBSCO) and Scopus from inception ...
A data extraction tool was developed, pilot-tested and used to extract data from the included studies....
19 studies met the inclusion criteria. Various mnemonics exist for handover practices. Where mnemonics are not used, participants have identified important information that should be included during h...
Currently, there is no gold standard for person-centred handover practices, which has led to various practices being implemented. Currently, there is a paucity of literature on person-centred handover...
This scoping review protocol was registered on Figshare (10.6084/m9 /m9.figshare.21731528)....
Clinical practice guidelines (CPGs) provide recommendations for clinicians on the basis of best evidence. CPGs are often not followed because of numerous barriers, including lack of awareness, inabili...
A case report is presented in which treatment of a patient's incipient caries lesions may not have followed a CPG available to practitioners, recommending conservative nonrestorative medical intervent...
This case represents possible mismanagement leading to undue pain and additional costs that could have been avoided by being aware of, and following, the recommendations from CPGs....
To evaluate the quality and analyse the content of clinical practice guidelines regarding central venous catheter-related thrombosis (CRT) to provide evidence for formulating an evidence-based practic...
Scoring and analysis of the guidelines using the AGREE II and AGREE REX scales....
Pubmed, Embase, Cochrane Library, Web of Science, CNKI, Wanfang, VIP, and the Chinese Biomedical Literature, and the relevant websites of the guideline, were searched from 1 January 2017 to 26 March 2...
Guidelines covering CRT treatment, prevention, or management were included from 1 January 2017 to 26 March 2022....
Three independent reviewers systematically trained in using the AGREE II and AGREE REX scales were selected to evaluate these guidelines....
Nine guidelines were included, and the quality grade results showed that three were at A-level and six were at B-level. The included guidelines mainly recommended the prevention measure of central ven...
The overall quality of the guidelines is high, but there are few preventive measures for central venous CRT involved in the guidelines. All preventive measures have yet to be systematically integrated...