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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"@type": "Question",
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"position": 21,
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"position": 26,
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"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de déficit en galactosylceramidase."
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"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
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"@type": "Question",
"name": "L'origine ethnique joue-t-elle un rôle ?",
"position": 28,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Les facteurs environnementaux sont-ils impliqués ?",
"position": 29,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
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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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In this prospective, questionnaire-based study conducted between 2020 and 2022, primiparous women were asked to complete three questionnaires at three defined survey time points (routine prepartum pre...
A total of 140 women were included and returned all three questionnaires. Fifty-eight percent performed breastfeeding exclusively at least until their baby had reached the age of 6 months, whereas 20%...
Breastfeeding behaviour and duration are influenced by multiple factors. Although certain sociodemographic factors are unalterable, comprehensive prepartum knowledge transfer and postpartum midwifery ...
The study was retrospectively registered at the German Clinical Trials Register (Deutsches Register Klinischer Studien, DRKS) on 6 December 2022 (DRKS00030763)....
Hairdresser dystonia is one of the occupational dystonias and task-specific movement disorders occurring as a result of long-term repetitive cutting with scissors. The task-specific dystonia manifests...
Microplastics (MPs) can enter the body via plastic products. Given modern plastic exposure, we seek to assess MP exposure in large populations through epidemiological tools. In this quasi-experimental...
Patient feedback is an important way for healthcare providers to understand patient experience and improve the quality of care effectively and facilitate patient-centered care in the healthcare system...
Attendances aged 18 or above from all public hospitals with AEDs during 16-30 June 2016 were targeted and a cross-sectional telephone survey was conducted using AEEQ. Preliminary AEEQ consisted of 92 ...
A total of 512 patients were recruited with a response rate of 54% and a mean age of 53.2 years old. The exploratory factor analysis suggested removing 7 items due to weak factor loadings and high cro...
The AEEQ is a valid and reliable instrument to evaluate the AED service which helps to build the engagement platform for promoting patient-centered care between patients and frontline healthcare profe...
COVID-19 affected mental health and wellbeing. Research is needed to assess its impact using validated tools. The study assessed the content validity, reliability and dimensionality of a multidimensio...
An online questionnaire collected data in the second half of 2020 from adults in different countries. The questionnaire included nine sections assessing: COVID-19 experience and sociodemographic profi...
The overall CVI = 0.83 with lower values for the memory items. Cronbach α for the memory items = 0.94 and ICC = 0.71. Cronbach α for PTSD items was 0.93 and ICC = 0.89. Test-retest scores varied by se...
The questionnaire has good content validity and can be used to assess the impact of the pandemic in cross-sectional studies especially as individual items. The PSI and self-care strategies need revisi...
Many interstitial lung diseases (ILDs) have clear causal relationships with environmental and occupational exposures. Exposure identification can assist with diagnosis, understanding disease pathogene...
This scoping review aimed to summarise the available evidence relating to ILD exposure assessment questionnaires, identify research gaps and inform the content for a future single evidence-based ILD q...
A scoping review based on Arksey and O'Malley's methodological framework was conducted....
Any questionnaire that elicited exposures specific to ILD was included. A modified COSMIN Risk of Bias Framework was used to assess quality....
Relevant articles were identified from MEDLINE and EMBASE up to 23 July 2023....
22 exposure questionnaires were identified, including 15 generally pertaining to ILD, along with several disease-specific questionnaires for hypersensitivity pneumonitis (n=4), chronic beryllium disea...
Designing a robust ILD-specific questionnaire should include an evidence-based and relevance-based approach to exposure derivation, with clinicians and patients involved in its development and tested ...