questionsmedicales.fr
Lipides
Lipides membranaires
Sphingolipides
Glycosphingolipides
Glycosphingolipides acides
Gangliosides
Gangliosides : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Maladies métaboliques
Tests génétiques
Symptômes neurologiques
Dysfonction musculaire
Imagerie par résonance magnétique
Anomalies cérébrales
Antécédents familiaux
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Symptômes
5
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Accumulation de gangliosides
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Prévention
5
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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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{
"@type": "Question",
"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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}
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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."
}
},
{
"@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."
}
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{
"@type": "Question",
"name": "Le soutien nutritionnel est-il important ?",
"position": 20,
"acceptedAnswer": {
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"text": "Oui, un soutien nutritionnel peut aider à améliorer la qualité de vie des patients."
}
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"@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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"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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}
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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
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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
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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
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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
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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" :
In the field of medicine and health sciences, Delphi methods are applied mainly in the exploratory or evaluative phases of a research process. Explicit and implicit knowledge of respected experts from...
Delphi techniques are conducted across different subfields in the health sciences. The reporting practices of studies using Delphi techniques vary, and current reporting guidelines for Delphi techniqu...
A systematic literature search for reporting guidelines on Delphi studies was performed in existing data resources based on databases in the health sciences (Scopus, MEDLINE, CINAHL, Epistemonikos) in...
We retrieved ten health science articles with reporting guidelines for Delphi studies. In analyzing them, we identified nine main categories (Justification, Expert panel, Questionnaire, Survey design,...
A well-justified position concerning epistemological foundations of Delphi studies is necessary to make the quality of the process assessable and, along with the reporting of the process, to classify ...
The results of our methodological review do not provide a final reporting guideline. The newly developed proposal is intended to encourage discussion and agreement in further analyses....
Preconception health affects fertility, pregnancy, and future health outcomes but public awareness of this is low. Our aims were to rank priorities for preconception care (PCC), develop strategies to ...
Urodynamic testing (UDS) is an important tool in the management of pediatric lower urinary tract conditions. There have been notable efforts to standardize pediatric UDS nomenclature and technique, bu...
Pediatric urologists regularly performing UDS were queried using a Delphi process. Participants were invited representing varied geographic, experience, and societal involvement. Participants underwen...
A diverse sample of 30 providers, representing 27 institutions across 21 US states; Washington, District of Columbia; and Canada completed the study. Participants reported interpreting an average numb...
This consensus report details the key elements and structure agreed upon by an expert panel of pediatric urologists. Further standardization of documentation should aid collaboration and research for ...
To establish a general performance evaluation index system for nursing managers in public hospitals of Wenzhou city....
Head nurses' performance plays a critical role in the development and operation of hospitals. Owing to the lack of accuracy and defects in the current evaluation system in Mainland China, there is an ...
A systematic review of literature, two rounds of expert consultation using the Delphi techniques, and empirical analyses were performed. In this study, a total of 20 experts in nursing-related fields ...
Both rounds of the consultation showed high response rates of 20 experts. A consensus of over 70% was reached for most indicators in the first round, while a 100% consensus was achieved for the modifi...
A suitable index system with 4 first-level indicators, 10 second-level indicators, and 37 third-level indicators was generated to assess head nurses' performance in public hospitals, thereby enhancing...
The modified performance evaluation index system serves as the cornerstone for the successful development of public hospitals and the provision of high-quality services for patients....
Sepsis is a life-threatening condition which may arise from infection in any organ system and requires early recognition and management. Healthcare professionals working in any specialty may need to m...
Two separate panels from high or upper-middle income and low or lower-middle income countries/regions participated in a Delphi method to suggest and rank sepsis competencies for medical students. Each...
The panels reached consensus on 38 essential sepsis competencies in low or lower-middle income countries/regions and 33 in high or upper-middle incomes countries/regions. These include competencies su...
Medical schools should consider developing curricula to address essential competencies, as a minimum, but also consider addressing competencies rated as very or moderately important....
Breast augmentation is a common operation. Evidence has grown with experience and long-term studies, but variation in practice exists. The authors detail the existing practices of a group of surgeons ...
Seventy-two plastic surgeons with a specialist interest in aesthetic breast surgery were asked to participate in the survey about aesthetic breast augmentation. A 54-point online survey was given, cov...
All 72 surgeons completed the survey. Their mean age was 57.6 years, 56.9% had been in surgical practice for over 20 years, and 88.9% were performing more than 50 primary breast augmentations per year...
Multiple factors affect clinical outcome in primary and secondary aesthetic breast surgery. A few well-established techniques have gained common acceptance, but opinions are more diverse for difficult...
The emergence of the COVID-19 pandemic in early 2020 led countries to implement a set of public health and social measures (PHSMs) attempting to contain the spread of the SARS-CoV-2 virus. This study ...
The PHSM under study were selected from the Oxford COVID-19 Government Response Tracker (OxCGRT), supplemented by topics presented during the Rapid Exchange Forum (REF) meetings in the scope of the Po...
There were 3,212 studies retrieved from PubMed, 162 full texts assessed for eligibility and 35 included in this PHSMs summary. The measures with clearest evidence on their positive impact from the evi...
The evidence found has significant implications for both researchers and policymakers. The study of PHSMs' impact on COVID-19 illustrates lessons learned for future pan- and epidemics, serving as a co...
Dietary inorganic nitrate is a popular nutritional supplement, which increases nitric oxide bioavailability and may improve exercise performance. Despite over a decade of research into the effects of ...
The modified Delphi technique was used to establish the views of 12 expert panel members on the use of dietary nitrate as an ergogenic aid. Over three iterative rounds (two via questionnaire and one v...
The 12 panel members contributed to voting in all three rounds. A total of 39 statements (17.6%) reached consensus across the three rounds (20 yes, 19 no). In round one, 21 statements reached consensu...
This study provides information on the current expert consensus on dietary nitrate, which may be of value to athletes, coaches, practitioners and researchers. The effects of dietary nitrate appear to ...
There is little agreement on the factors influencing endurance performance. Endurance performance often is described by surrogate variables such as maximum oxygen consumption, lactate threshold, and r...