questionsmedicales.fr
Lipides
Lipides membranaires
Sphingolipides
Glycosphingolipides
Glycosphingolipides acides
Gangliosides
Gangliosides : Questions médicales fréquentes
Termes MeSH sélectionnés :
Cerebrovascular Circulation
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
Système nerveux
Fonctionnement neuronal
Lésions cutanées
Anomalies pigmentaires
Troubles cognitifs
Accumulation de gangliosides
Douleurs musculaires
Atteinte musculaire
Prévention
5
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Dépistage génétique
Conseil génétique
Risque familial
Vaccinations
Prévention des maladies
Alimentation équilibrée
Santé générale
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": "Peut-on prévenir les gangliosidoses ?",
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"acceptedAnswer": {
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"@type": "Question",
"name": "Le conseil génétique est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, le conseil génétique est conseillé pour les familles à risque de gangliosidoses."
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{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 13,
"acceptedAnswer": {
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"text": "Les vaccinations ne préviennent pas les gangliosidoses, mais protègent contre d'autres maladies."
}
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{
"@type": "Question",
"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": {
"@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."
}
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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": {
"@type": "Answer",
"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."
}
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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."
}
},
{
"@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."
}
},
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"@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" :
Cerebrovascular reactivity (CVR) reflects the change in cerebral blood flow in response to vasodilatory stimuli enabling assessment of the health of the cerebral vasculature. Recent advances in the qu...
Traumatic brain injury is a complex and highly heterogeneous disease due to the host of concomitant injuries that may accompany the initial insult. Due to the dynamic interplay between the injuries th...
To explore the imaging and transcranial Doppler cerebral blood flow characteristics of cerebrovascular fenestration malformation and its relationship with the occurrence of ischemic cerebrovascular di...
A retrospective analysis was conducted on the imaging data of 194 patients with cerebrovascular fenestration malformation who visited the Heyuan People's Hospital from July 2021 to July 2023. The loca...
A total of 194 patients with cerebral vascular fenestration malformation were found. Among the artery fenestration malformation, basilar artery fenestration was the most common, accounting for 46.08% ...
Cerebrovascular fenestration malformation is most common in the basilar artery. Cerebrovascular fenestration malformation may also be associated with other cerebrovascular malformations. Standardized ...
Spinal cord injuries (SCI) often result in cardiovascular issues, increasing the risk of stroke and cognitive deficits....
This study assessed cerebrovascular reactivity (CVR) using functional magnetic resonance imaging (fMRI) during a hypercapnic challenge in SCI participants compared to noninjured controls....
Fourteen participants were analyzed (...
The results showed a longer CVR component (tau) in the grey matter of SCI participants (...
Preliminary findings suggest a difference in the dynamic CVR component, tau, between the SCI and noninjured control groups, potentially explaining the higher cerebrovascular health burden in SCI indiv...
The relationship between cerebral blood flow and blood pressure is a critical part of investigation of cerebral autoregulation. Conventionally, cerebrovascular resistance (CVR) has been used to descri...
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcrania...
This is a single-center, cross-sectional study of 130 subjects-65 patients (38 females), with genetically confirmed FD, and 65 sex- and age-matched controls. Using ultrasonography, we measured structu...
In comparison to sex- and age-matched controls, FD patients displayed significantly increased carotid artery intima-media thickness (observed FD 0.69 ± 0.13 mm versus controls 0.63 ± 0.12 mm; P...
Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD....
Respiration disturbs cardiovascular and cerebrovascular controls but its role is not fully elucidated....
Respiration can be classified as a confounder if its observation reduces the strength of the causal relationship from source to target. Respiration is a suppressor if the opposite situation holds. We ...
Respiration behaved systematically as a confounder for cardiovascular and cerebrovascular controls. In addition, its role was affected by propofol-based general anesthesia but not by a postural stimul...
The C/S test can be fruitfully exploited to categorize the role of respiration over causal variability interactions....
The application of the C/S test could favor the comprehension of the role of respiration in cardiovascular and cerebrovascular regulations....
To expand previous understanding of age-related vascular changes, we examined the association between aging and characteristics of cerebral arteries among 1133 participants aged 35 to 75 years recruit...
Maturational differences exist in cardiopulmonary and cerebrovascular function at sea-level, but the impact of maturation on acclimatization responses to high altitude is unknown. Ten children (9.8 ± ...
During hyperthermia, the perturbations in mean arterial blood pressure (MAP) produced by the Valsalva manoeuvre (VM) are more severe. However, whether these more severe VM-induced changes in MAP are t...
Healthy participants (n = 12, 1 female, mean ± SD: age 24 ± 3 years) completed a 30 mmHg (mouth pressure) VM for 15 s whilst supine during normothermia and mild hyperthermia. Hyperthermia was induced ...
Passive heating significantly raised core temperature from baseline (37.9 ± 0.2 vs. 37.1 ± 0.1°C at rest, p < 0.01). MAP during phases I through III of the VM was lower during hyperthermia (interactio...
These data indicate that the cerebrovascular response to the VM is largely unchanged by mild hyperthermia....