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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Retard de développement
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Prévention
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Mutations génétiques
Traitements
5
Thérapie enzymatique
Gestion des symptômes
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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 observer des symptômes cutanés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Certaines gangliosidoses peuvent provoquer des lésions cutanées ou des anomalies pigmentaires."
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"name": "Les troubles cognitifs sont-ils liés aux gangliosides ?",
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"acceptedAnswer": {
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"name": "Peut-on prévenir les gangliosidoses ?",
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"@type": "Question",
"name": "Le conseil génétique est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
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}
},
{
"@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."
}
},
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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": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
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"@type": "Question",
"name": "Les antécédents médicaux familiaux sont-ils significatifs ?",
"position": 29,
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"@type": "Answer",
"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,
"acceptedAnswer": {
"@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" :
Multiple sclerosis (MS) is an inflammatory demyelinating disease. Auditory evoked potential studies have demonstrated conduction and neural processing deficits in adults with MS, but little is known a...
to evaluate the central auditory pathway with brainstem auditory evoked potentials (BAEP) and long-latency auditory evoked potentials (LLAEP) in children and adolescents with MS....
The study comprised 17 individuals with MS, of both sexes, aged 9 to 18 years, and 17 healthy volunteers, matched for age and sex. All individuals had normal hearing and no middle ear impairments. The...
Abnormal responses were observed in 60% of electrophysiologic assessments of individuals with MS. In BAEP, 58.82% of MS patients had abnormal responses, with longer wave V latency and therefore longer...
Children and adolescents with MS had abnormal BAEP responses, with delayed neural conduction between the cochlear nucleus and the lateral lemniscus. Also, abnormal LLAEP results suggest a decrease in ...
When a person listens to sound, the brain time-locks to specific aspects of the sound. This is called neural tracking and it can be investigated by analysing neural responses (e.g., measured by electr...
To analyze age-related changes in the central auditory pathway in healthy elderly individuals....
A prospective, quantitative cross-sectional study. The caseload comprised 18 adults (mean age, 22.78 years) and 18 elderly individuals (mean age, 66.72 years) of both sexes, who met inclusion criteria...
Elderly individuals had higher wave and interpeak latencies (waves I, III and V and interpeaks I-V and III-V) of brainstem auditory evoked potential. Latencies of frequency following response waves A,...
Brainstem auditory evoked potential and frequency-following response allowed appropriate assessment of age-related changes in the auditory pathway. Slower neural response to auditory stimuli suggests ...
To investigate the functionalities of the neural pathways through the auditory evoked potentials of the brainstem and the contralateral stapedial acoustic reflexes in normal-hearing individuals with t...
This is a cross-sectional study with a comparison group and a convenience sample, consisting of 32 individuals with type 1 diabetes mellitus and 20 controls without the disease. All subjects had heari...
The auditory thresholds of the acoustic reflex were statistically lower in the group with the disease at frequencies of 0.5 kHz and 1.0 kHz in the left ear (p=0.01 and p=0.01, respectively). The absol...
The findings suggest that subjects with type 1 diabetes mellitus are more likely to present alterations in the central auditory pathways, even with auditory thresholds within normal limits....
To investigate the evaluation value of electrically evoked auditory brainstem response (EABR) monitoring before cochlear implantation in patients with cochlear nerve defects (CND)....
A total of 54 patients with cochlear nerve defects who underwent cochlear implantation in our hospital from 2011 to 2018 were selected as the CND group, and 20 patients with normal cochlear implantati...
The EABR waveform of the CND group was significantly different from the control group in terms of average wave V threshold, average dynamic range and V-wave I/O curve slope (P < 0.05). Average C value...
The EABR test can be used to evaluate the auditory pathway function before cochlear implantation and its postoperative effect in patients with CND....
To characterize the peripheral and central auditory pathways in individuals with Acute Lymphoid Leukemia (ALL) and compare assessment results before and during chemotherapy....
The study included 17 subjects with ALL, divided into two age groups: 3 to 6 (11 individuals) and 7 to 16 years old (6 individuals). Each subject was evaluated twice (before and 3 to 6 months after ch...
PTA was normal. Tympanometry was abnormal in the second assessment in 2 individuals aged 3 to 6 years. One subject in each age group had absent ipsilateral acoustic reflexes. In high-frequency audiome...
No hearing loss was identified in the behavioral audiological assessment. BAEP was more affected in the 3-to-6-year-old group, with greater impairment in the lower brainstem in the first and second as...
Congenital cytomegalovirus infection (cCMVi) is a leading cause of sensorineural hearing loss (SNHL) and developmental delay. Brainstem auditory evoked potentials (BAEPs) recording allows assessment o...
As the world becomes more urbanized, more people become exposed to traffic and the risks associated with a higher exposure to road traffic noise increase. Excessive exposure to environmental noise cou...
The human auditory system extracts rich linguistic abstractions from speech signals. Traditional approaches to understanding this complex process have used linear feature-encoding models, with limited...
Subjective promontory stimulation is used to evaluate cochlear implant (CI) candidacy, but the test reliability is low. Electrically evoked auditory brainstem response (EABR) can verify the function o...
We hypothesised that LA-TT-EABR waveforms of good quality would be related to successful hearing outcomes. We assumed that the duration of hearing loss/deafness was a confounding factor to study outco...
19 borderline CI candidates....
Positive LA-TT-EABR results were confirmed in 14 patients. LA-TT-EABR's mean latency was 2.05 ± 0.31 ms (eII/eIII) and 4.24 ± 0.39 ms (eIV/eV). Latencies weren't statistically different from intra-ope...
LA-TT-EABR is a tool in the frame of pre-operative objective testing the auditory pathway. It seems useful for clinical testing CI candidacy. Based on this study's outcomes, LA-TT-EABR should be recom...