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",
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"@type": "Question",
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"position": 3,
"acceptedAnswer": {
"@type": "Answer",
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"@type": "Question",
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"@type": "Question",
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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",
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"position": 20,
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"@type": "Question",
"name": "Quelles sont les complications possibles du déficit ?",
"position": 21,
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"position": 24,
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},
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"position": 25,
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},
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"position": 26,
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}
},
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"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
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}
},
{
"@type": "Question",
"name": "L'origine ethnique joue-t-elle un rôle ?",
"position": 28,
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}
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{
"@type": "Question",
"name": "Les facteurs environnementaux sont-ils impliqués ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents médicaux de troubles métaboliques peuvent augmenter le risque de déficit."
}
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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.
The purpose of this study was to validate the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5) Cross-Cutting Symptom Measure (CCSM) as a screening tool for a wide variety of disorders w...
Participants (N = 851) were referred for coordinated specialty care services (mean age = 20.26 years (SD = 2.97); 82.5 % Caucasian, 7.5 % African American, 0.7 % Native American, 0.7 % Pacific Islande...
At optimal cut-score, specificity ranged from 57 to 77 % for depression, anxiety, substance use and psychosis domains; sensitivity ranged from 63 to 72 %. Scores for depression, anxiety, substance use...
Criterion measures did not have inter-rater reliabilities as this is generally prohibitive in clinic settings....
The CCSM could provide a first step in screening for multiple disorders; however, it cannot replace structured interviews for making diagnoses related to these conditions....
The alternative model for personality disorder (AMPD) is currently included in Section III of the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5). This review sought to s...
Screen use is part of daily life worldwide and morbidity related to excess use of screens has been reported. Some use of screens in excess could indicate a screen use disorder (ScUD). An integrative a...
Our goals were (1) to describe screen uses in a general population sample and (2) to test the unidimensionality, local independence, and psychometric properties of the 9 Diagnostic and Statistical Man...
This cross-sectional survey in a French suburban city targeted adults and adolescents. A self-administered questionnaire covered the main types of screens used and their use for various activities in ...
Among the 300 participants, 171 (57.0%) were female (mean age 27 years), 297 (99.0%) used screens, 134 (44.7%) reported at least one criterion (potential problem users), and 5 (1.7%) reported 5 or mor...
We described screen uses in a French community sample and have shown that the adaptation of the DSM-5 IGD to "ScUD" has good psychometric validity and is discriminating, confirming our hypothesis. We ...
This study evaluated the consistency between the International Classification of Diseases, 11th Edition (ICD-11) for gaming disorder (ICD-11-GD) and Diagnostic and Statistical Manual of Mental Disorde...
We recruited 60 participants with GD, 45 participants who engaged in hazardous gaming (HG), and 120 controls based on a diagnostic interview. Their operationalization of functional impairment and stag...
We observed satisfactory consistency (kappa value = 0.80) with a diagnostic accuracy of 91.5% between the ICD-11-GD and DSM-5-IGD criteria. Furthermore, 16 participants with IGD in DSM-5 were determin...
There is a good consistency between ICD-11-GD and DSM-5-IGD criteria. The ICD-11 criteria have a high threshold for diagnosing GD. HG criteria could compensate for this high threshold and identify ind...
The conceptual basis of psychopathology within cancer survivorship is critical, as the chosen conceptualisation informs assessment and explanatory models, as well as interventions and supportive care ...
Age-related psychometric differences in Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) opioid use disorder (OUD) diagnostic criteria have been hypothesized, but not been te...
People who participated in the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions III and reported past 12-month nonmedical use of prescription opioids were included. YAs were 1...
One in 5 people met the DSM-5 OUD diagnostic criteria for OUD within the past 12 months, with the most endorsed criteria being tolerance (17.96%). DIF was identified for 3 criteria, including (1) taki...
These findings suggest that there may be age-related variations in the DSM-5 OUD diagnostic criteria's ability to detect latent OUD. Future research should identify contributing factors and the influe...
There is a scarcity of summarizing data on the epidemiology of insomnia in older persons, especially when diagnosed with international criteria. This study aimed to estimate the prevalence and correla...
Through PubMed/MEDLINE, EMBASE, and Web of Science (WoS), we searched for relevant articles published before June 28, 2023. The risk of bias was weighed using the Joanna Briggs Institute's (JBI's) cri...
We included 18,270 participants across 16 studies. The male/female ratio was 0.89 (12 studies), and the mean age varied from 65.9 to 83.1 years (8 studies). The pooled prevalence of insomnia was 19.6%...
Nearly one in every five old individuals was considered to have insomnia disorder, which was associated with the gender and the existence of mental health and/or somatic conditions....
We registered the protocol in the International Prospective Register of Systematic Reviews (PROSPERO) with registration number: CRD42022344675....
The alternative model of personality disorders (AMPD) traits were designed to maintain continuity with the Section II personality disorder (PD) diagnoses by retaining the same clinical information. Wh...
The Impact of Event Scale-Revised (IES-R) is a widely used self-report for assessing posttraumatic stress disorder (PTSD), originally aligned with Diagnostic and Statistical Manual of Mental Disorders...
A total of 238 participants recruited from multiple psychiatric centers, including 67 patients with PTSD, 72 patients with psychiatric controls, and 99 healthy controls, were included in the study. Al...
The IES-R demonstrated good internal consistency and a high correlation with the PCL-5. Through factor analysis, 5 distinct dimensions emerged within the IES-R: sleep disturbance, intrusion, hyperarou...
These findings underscore the scale's concurrent validity with the DSM-5 PTSD criteria and its effectiveness as a screening tool. Implementing a cutoff score of 25 on the IES-R can enhance its utility...