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
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Lésions cutanées
Anomalies pigmentaires
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Accumulation de gangliosides
Douleurs musculaires
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Prévention
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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": "Les vaccinations peuvent-elles aider ?",
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"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 14,
"acceptedAnswer": {
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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."
}
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{
"@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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}
},
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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."
}
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"@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."
}
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{
"@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": {
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"text": "Oui, certaines populations, comme les Ashkénazes, ont un risque plus élevé de gangliosidoses."
}
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"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
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" :
In this work, algorithms have been developed to: 1. Compare visual field coordinate data, presented in different representation systems; 2. Determine the distance in degrees between any two points in ...
The aim of the study is to analyze visual fields defects (VFDs) in epidemic retinitis (ER)....
Patients with ER and Humphrey's visual field (HFA) 30-2 performed after resolution were studied. VFD severity grading was performed. Patients treated with oral doxycycline (Group-A) versus doxycycline...
Thirty-five eyes of 25 patients were studied. Nasal, inferior, temporal and central VFD were seen in 19 (54.2%), 13 (37.1%), 7 (20%) and 6 (17.1%) eyes, respectively. Grade 0, 1, 2 and 3 VFDs were see...
ER can cause VFD persisting long after resolution. Treatment with oral doxycycline without steroids was non-inferior to combined treatment with respect to VFD....
A small number of objects can be rapidly and accurately enumerated, whereas a larger number of objects can only be approximately enumerated. These subitizing and estimation abilities, respectively, ar...
Perimetry plays an important role in the diagnosis and management of glaucoma. This article discusses the assessment of visual field progression in patients with glaucoma....
Selecting the best visual field test strategy and establishing a baseline of visual fields will assist clinicians in the detection of glaucomatous progression. Repeat testing serves to confirm or refu...
Many treated patients with glaucoma will experience visual field progression. Optimal utilization of visual field testing strategy and analytical software can help clinicians identify patients with gl...
Virtual reality field testing may provide an alternative to standard automated perimetry. This study evaluates a virtual reality game-based automated perimetry in a healthy pediatric population....
A prospective series of pediatric patients at one institution who performed VisuALL perimetry (Olleyes Inc, Summit, NJ) using a game-based algorithm. Participants were examined by an experienced pedia...
A total of 191 eyes of 97 patients (54% female) were included, with a mean age of 11.9 ± 3.1 years. The average MD was -1.82 ± 3.5 dB, with a mean foveal sensitivity of 32.0 ± 4.7 dB. Fifty-nine eyes ...
VisuALL virtual reality field testing was well tolerated in this pediatric study cohort. Older age and shorter test duration were associated with better performance on field testing....
Perimetry is widely used in the localization of retrochiasmal visual pathway lesions. Although macular sparing, homonymous paracentral scotomas, and quadrantanopias are regarded as features of posteri...
Retrospective record review conducted in a single, academic, medical center using an electronic search engine with the terms ""homonymous hemianopia," "optic tract," "temporal lobectomy," "visual fiel...
From an original cohort of 256 cases, only 83 had MRI-defined lesions that were limited to particular retrochiasmal segments and had visual field defect patterns that allegedly permitted localization ...
In correlating discrete MRI-defined retrochiasmal lesions with visual field defect patterns identified on static perimetry, this study showed that macular sparing, homonymous paracentral scotomas, and...
To compare visual field test results of Glaufield Lite AP901 CTS 133 (Appasamy Associates, Mannadipet Commune, Thirubhuvanai, Puducherry, India, hereafter Glaufield Lite) with Humphrey Field Analyser ...
A pilot study at a tertiary eye centre involving 23 normal and 24 glaucoma patients who underwent two consecutive visual field tests on (i) HFA 24-2 SITA Fast and (ii) Glaufield Lite Quick Central pro...
The mean testing time on HFA was significantly shorter than Glaufield Lite (normals: HFA: 2.75 ± 0.49 min, Glaufield Lite: 6.85 ± 0.86 min, p < 0.001; glaucoma patients: HFA: 3.45 ± 1.08 min, Glaufiel...
Both perimetric techniques showed reliable test results though test duration was longer with Glaufield Lite perimetry. The MD showed poor agreement, likely due to different scales and principles used ...
Identifying the clinical relevance of superficial versus deep layer macular vessel density (mVD) in glaucoma is important for monitoring glaucoma patients. Our current retrospective longitudinal study...
Visual fields are an integral part of glaucoma diagnosis and management. COVID has heightened the awareness of the potential for viral spread with the practice of visual fields modified. Mask artefact...
The tilt aftereffect (TAE) is observed when adaptation to a tilted contour alters the perceived tilt of a subsequently presented contour. Thus far, TAE has been treated as a local aftereffect observed...