Le traitement peut améliorer la qualité de vie, mais il ne guérit pas le déficit enzymatique.
Efficacité du traitementQualité de vieDéficit enzymatique
Complications
5
#1
Quelles sont les complications possibles du déficit ?
Les complications incluent des troubles neurologiques graves et des problèmes de développement.
ComplicationsTroubles neurologiquesDéveloppement
#2
Le déficit peut-il entraîner des problèmes psychologiques ?
Oui, des problèmes psychologiques comme l'anxiété et la dépression peuvent survenir.
Problèmes psychologiquesAnxiétéDépression
#3
Y a-t-il des risques de complications à long terme ?
Oui, les patients peuvent développer des complications à long terme affectant leur qualité de vie.
RisquesComplications à long termeQualité de vie
#4
Les complications sont-elles évitables ?
Certaines complications peuvent être gérées, mais elles ne sont pas entièrement évitables.
Gestion des complicationsPréventionÉvitabilité
#5
Comment surveiller les complications ?
Un suivi régulier avec des spécialistes est essentiel pour surveiller et gérer les complications.
SurveillanceSuivi médicalGestion des complications
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour le déficit ?
Les antécédents familiaux de maladies génétiques augmentent le risque de déficit en galactosylceramidase.
Facteurs de risqueAntécédents familiauxMaladies génétiques
#2
Le sexe influence-t-il le risque ?
Le déficit touche également les deux sexes, mais certaines formes peuvent être plus fréquentes chez les hommes.
SexePrévalenceGénétique
#3
L'origine ethnique joue-t-elle un rôle ?
Oui, certaines populations ont un risque plus élevé de déficits enzymatiques en raison de facteurs génétiques.
Origine ethniquePrédisposition génétiqueRisque
#4
Les facteurs environnementaux sont-ils impliqués ?
Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques.
Facteurs environnementauxRisqueGénétique
#5
Les antécédents médicaux influencent-ils le risque ?
Des antécédents médicaux de troubles métaboliques peuvent augmenter le risque de déficit.
Antécédents médicauxTroubles métaboliquesRisque
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"name": "Comment diagnostiquer un déficit en galactosylceramidase ?",
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"text": "Un diagnostic se fait par des tests enzymatiques et génétiques pour évaluer l'activité de l'enzyme."
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"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
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"@type": "Question",
"name": "Quels symptômes peuvent indiquer un déficit ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes neurologiques, digestifs ou cutanés peuvent suggérer un déficit en galactosylceramidase."
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"@type": "Question",
"name": "Le diagnostic est-il difficile à établir ?",
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"@type": "Question",
"name": "Quels sont les symptômes principaux d'un déficit en galactosylceramidase ?",
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"@type": "Question",
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"position": 10,
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"@type": "Question",
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"position": 11,
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"@type": "Question",
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"position": 12,
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"@type": "Question",
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"position": 13,
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"@type": "Question",
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"@type": "Question",
"name": "Quel est le traitement principal pour le déficit en galactosylceramidase ?",
"position": 16,
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"@type": "Question",
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"@type": "Question",
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"position": 20,
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"@type": "Answer",
"text": "Le traitement peut améliorer la qualité de vie, mais il ne guérit pas le déficit enzymatique."
}
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"@type": "Question",
"name": "Quelles sont les complications possibles du déficit ?",
"position": 21,
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"@type": "Answer",
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"@type": "Question",
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"position": 24,
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"position": 26,
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"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de déficit en galactosylceramidase."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
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}
},
{
"@type": "Question",
"name": "L'origine ethnique joue-t-elle un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines populations ont un risque plus élevé de déficits enzymatiques en raison de facteurs génétiques."
}
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{
"@type": "Question",
"name": "Les facteurs environnementaux sont-ils impliqués ?",
"position": 29,
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}
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{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
"position": 30,
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"@type": "Answer",
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}
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Department of Molecular and Translational Medicine, Unity of Brescia, University of Brescia, Viale Europa 11, 25123 Brescia, Italy; Italian Consortium for Biotechnology (CIB), Unity of Brescia, University of Brescia, Viale Europa 11, 25123 Brescia, Italy. Electronic address: marco.presta@unibs.it.
Department of Biotechnical and Clinical Laboratory Sciences, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo-SUNY, Buffalo, New York, United States of America.
Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo-SUNY, Buffalo, New York, United States of America.
Department of Biotechnical and Clinical Laboratory Sciences, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo-SUNY, Buffalo, New York, United States of America.
Cellular Neuroscience, Neurodegeneration, Repair, Departments of Neurology and of Neuroscience, Yale University School of Medicine, New Haven, CT 06536, USA.
Cellular Neuroscience, Neurodegeneration, Repair, Departments of Neurology and of Neuroscience, Yale University School of Medicine, New Haven, CT 06536, USA.
Cellular Neuroscience, Neurodegeneration, Repair, Departments of Neurology and of Neuroscience, Yale University School of Medicine, New Haven, CT 06536, USA.
Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo-SUNY, Buffalo, New York, United States of America.
Institute for Myelin and Glia Exploration, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo-SUNY, Buffalo, New York, United States of America.
Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo-SUNY, Buffalo, New York, United States of America.
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The incidence of early onset multiple sclerosis (EOMS) is increasing. We therefore aimed to compare the demographic, clinical, and magnetic resonance imaging features of early onset and adult onset mu...
This was a retrospective study of MS patient medical charts between 1977 and 2021, which were registered in the MS database. Only patients with relapsing remitting MS longer than 1 year were included ...
Total of 3477 including 353 (10.2 %) EOMS and 3124 (89.8 %) AOMS patients were analyzed. There was no statistically significant difference in symptom patterns between the EOMS and AOMS groups ( p = 0....
Onset pattern in terms of age was an independent prognostic factor for neurological disabilities in MS patients....
Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults. We aimed to determine the impact of age, gender and risk factors (including sex-specific) on CVT onset....
We used data from the BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis), a multicentre multinational prospective observational study on CVT. Composite factors analysis (CFA) wa...
A total of 1309 CVT patients (75.3% females) aged ⩾18 years were recruited. The overall median (IQR-interquartile range) age for males and females was 46 (35-58) years and 37 (28-47) years (...
Women suffer CVT 9 years earlier in comparison to men. Female patients with multiple (⩾1) risk factors suffer CVT ~12 years earlier compared to those with no identifiable risk factors....
The cardiometabolic risk associated with metabolically healthy obesity remains the subject of debate. It is unclear whether changes in metabolically healthy obesity status affect premature cardiovascu...
In a community-based, prospective cohort study, 54,441 adults without CVD in or before 2010 were followed for incident CVD until 2020. This sample was analyzed in 2022. Four age groups were examined (...
During a median follow-up of 9.59 years, 3,038 participants developed CVD. Individuals with metabolically unhealthy obesity at baseline had the highest hazard ratio for CVD onset at any age, ranging f...
The metabolically healthy obesity phenotype is dynamic and its transition to a metabolically unhealthy phenotype or even stable metabolically healthy obesity is associated with an increased risk of CV...
Associations between blood pressure (BP) with age at onset of Huntington's disease (HD) have reported inconsistent findings. We used Mendelian randomization (MR) to assess effects of BP and lowering s...
Genetic variants from genome-wide association studies(GWAS) of BP traits and BP-lowering variants in genes encoding antihypertensive drugs targets were extracted. Summary statistics for age at onset o...
Genetically predicted SBP or diastolic BP increase was associated with a later age at onset of HD. However, after SBP/DBP was present as a covariate using multivariable MR method, no significant causa...
This MR analysis provided evidence that genetically determined SBP lowering through antihypertensive drugs might be associated with an earlier age at onset of HD. The results may have a potential impa...
Earlier schizophrenia onset in men relative to women has been a consistent finding in the literature, but a nuanced understanding of underlying reasons remains elusive. Further consideration should be...
Participants with schizophrenia were derived from the 2010 Australian Survey of High Impact Psychosis (n = 857). The SHIP survey constituted a representative, population-based study of almost 1.5 mill...
Using modal age, two and three clusters were respectively found in men (early versus late onset) and women (early versus mid versus late onset). Early onset groups in both sexes had an increased famil...
These findings further inform our understanding of the pathogenesis of schizophrenia. Added explorations of trends in older onset schizophrenia cohorts is especially important....