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Enzymes et coenzymes
Enzymes
Isomerases
Intramolecular oxidoreductases
Aldose-ketose isomerases
Aldose-ketose isomerases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Déficience enzymatique
Tests génétiques
Tests biochimiques
Échantillons biologiques
Symptômes métaboliques
Anomalies enzymatiques
Marqueurs biologiques
Sucres sanguins
Mutations génétiques
Génétique médicale
Symptômes
5
Hypoglycémie
Retard de croissance
Âge d'apparition
Troubles métaboliques
Troubles neurologiques
Déséquilibres métaboliques
Qualité de vie
Problèmes de santé
Gestion des symptômes
Traitement
Prévention
5
Dépistage néonatal
Prévention des maladies
Conseils diététiques
Complications
Antécédents familiaux
Troubles métaboliques
Dépistage génétique
Anomalies enzymatiques
Éducation à la santé
Détection précoce
Traitements
5
Régime alimentaire
Suppléments enzymatiques
Thérapie génique
Recherche médicale
Régime adapté
Sucres problématiques
Essais cliniques
Traitements expérimentaux
Complications
5
Complications métaboliques
Développement
Gestion des complications
Complications permanentes
Santé globale
Qualité de vie
Risques à long terme
Traitement
Gestion proactive
Complications graves
Facteurs de risque
5
Antécédents familiaux
Mutations génétiques
Facteurs environnementaux
Prédispositions génétiques
Tests génétiques
Risque accru
Mode de vie sain
Complications
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"name": "Comment diagnostiquer une déficience en aldose-kétose isomérases ?",
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"text": "Des tests enzymatiques et des analyses génétiques peuvent confirmer la déficience."
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des isomérases ?",
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"name": "Les symptômes sont-ils réversibles ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en isomérases ?",
"position": 11,
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{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques préventifs ?",
"position": 12,
"acceptedAnswer": {
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"text": "Éviter certains sucres peut réduire le risque de complications chez les porteurs de mutations."
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{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils la prévention ?",
"position": 13,
"acceptedAnswer": {
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"@type": "Question",
"name": "Le dépistage génétique est-il recommandé ?",
"position": 14,
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{
"@type": "Question",
"name": "Comment l'éducation peut-elle aider à la prévention ?",
"position": 15,
"acceptedAnswer": {
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"text": "L'éducation sur les symptômes et les risques peut aider à une détection précoce."
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{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette condition ?",
"position": 16,
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"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
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}
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{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
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"text": "La thérapie génique est en recherche, mais pas encore une option standard pour ces déficiences."
}
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{
"@type": "Question",
"name": "Comment un régime alimentaire aide-t-il ?",
"position": 19,
"acceptedAnswer": {
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"text": "Un régime adapté peut réduire les symptômes en limitant les sucres problématiques."
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"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
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"text": "Des essais cliniques explorent de nouvelles approches, mais leur efficacité n'est pas encore prouvée."
}
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"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles métaboliques graves et des problèmes de développement."
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},
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"name": "Les complications sont-elles réversibles ?",
"position": 22,
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"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
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"position": 23,
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"@type": "Question",
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"position": 24,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
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"text": "Une gestion proactive des symptômes peut réduire le risque de complications graves."
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"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
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"@type": "Question",
"name": "L'âge joue-t-il un rôle dans les facteurs de risque ?",
"position": 27,
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"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
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"name": "Y a-t-il des tests pour évaluer les facteurs de risque ?",
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 10/05/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
4 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, Via S. Zeno 51, 56127 Pisa, Italy.
Interdepartmental Research Center Nutrafood "Nutraceuticals and Food for Health", University of Pisa, 56127 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Department of Ophthalmology, Louis J. Fox Center for Vision Restoration, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA; Department of Neurobiology, Center of Neuroscience, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA; Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, 15261, USA; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, 80708, Taiwan. Electronic address: kcchang@pitt.edu.
Publications dans "Aldose-ketose isomerases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, Faculty of Science, Atatürk University, 25240, Erzurum, Turkey; Department of Pharmacy Services, Nihat Delibalta Göle Vocational High School, Ardahan University, 75700, Ardahan, Turkey. Electronic address: yelizdemir@ardahan.edu.tr.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
1 Asai Germanium Research Institute Co., Ltd.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
1 Asai Germanium Research Institute Co., Ltd.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
2 Enzymology and Molecular Biology Laboratory, Department of Chemistry and Life Science, Nihon University.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology , Jiangnan University , Wuxi , Jiangsu 214122 , People's Republic of China.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
a Dipartimento di Farmacia , Università di Pisa , Pisa , Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
a Dipartimento di Farmacia , Università di Pisa , Pisa , Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Biochemistry Unit, Department of Biology, University of Pisa, via S. Zeno, 51, 56123 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Department of Pharmacy, University of Pisa, via Bonanno 6, 56126 Pisa, Italy.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Faculty of Pharmacy, Anadolu University, 26470, Eskişehir, Turkey.
Publications dans "Aldose-ketose isomerases" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology, University of Colorado, Anschutz Medical Campus, Aurora, CO, United States.
Publications dans "Aldose-ketose isomerases" :
Self-injurious behaviors are repetitive, persistent actions directed toward one's body that threaten or cause physical harm. These behaviors are seen within a broad spectrum of neurodevelopmental and ...
Nonsuicidal Self-Injury (NSSI), the purposeful harming of one's body tissue without suicidal intent. NSSI frequently co-occurs with other self-destructive forms of psychopathology, such as eating diso...
Nonsuicidal self-injury (NSSI) is a risk factor for suicide, yet how changes in NSSI engagement relate to suicide ideation, planning, and attempts remains largely unknown. The current study aims to fi...
Data came from a sample of 403 self-injuring young adults who completed assessments of NSSI and suicide thoughts and behaviors at baseline, 6, and 12 months. Bivariate latent growth modeling, adjustin...
The frequency of NSSI declined across the study period. The slopes of NSSI and suicide ideation were significantly correlated, suggesting individuals with sharper declines in NSSI across time also sho...
These results provide new evidence that changes in NSSI are related to subsequent changes in suicide thoughts and behaviors. Monitoring suicide risk among those with NSSI is important and treatment ai...
The delineation of the subtypes of automatically reinforced self-injurious behavior improved the utility of functional analysis results in predicting treatment efficacy. However, the mechanisms underl...
Early maladaptive schemas (EMSs) and self-harm have been firmly linked in adults, but research on these associations in adolescents remains scarce. Additionally, the links between EMSs and functions o...
The participants were recruited from first-visit 12-22-year-old adolescent patients entering specialized mental health care or pediatric care. For 118 participants, complete data were available for th...
The differences between the self-harm groups were significant for the majority of the EMSs. The stronger the EMSs were, the more severe the manifestations of self-harm. The effect sizes ranged from sm...
The present study shows that significant associations between EMSs and both self-harm thoughts and behavior exist also in adolescents. Stronger EMSs are linked to more severe self-harm. Knowledge of t...
Nonsuicidal self-injurious behavior (NSSI) is an important risk factor for future suicide attempts. Previous research has identified a number of motivations for engaging in NSSI. The aim of the presen...
The study was conducted at the largest center for non-psychotic mental disorders in Moscow. All admitted patients with both NSSI and SI completed the Russian version of the ISAS-II, underwent the Self...
A total of 614 patients were included in the study. 543 (88.4%) patients were assigned female at birth with a mean age of 24.86 (7.86) years. Factor analysis supported a two-factor structure (Intraper...
The Russian version of the ISAS-II is a valid and reliable instrument for assessing NSSI functions in a population at high risk for suicide attempts. Interpersonal functions are associated with a numb...
Performance on implicit measures of suicidality has been associated with suicidal and nonsuicidal self-injury. Despite the high prevalence of self-harm in patients with borderline personality disorder...
Forty patients with BPD and 25 healthy controls completed three implicit association tests (IATs) (Death words - Me/Others words, Self-Harm pictures - Me/Others, and Self-Harm pictures - Good/Bad word...
Patients with BPD had higher scores on all three IATs than healthy controls. The subliminal priming procedure did not reveal group differences. Correlations between implicit measures and psychopatholo...
The study was cross-sectional only, and the study had reduced power as the sample size was limited....
As expected, patients with BPD had higher scores than healthy controls on the IATs, which indicates higher implicit self-identification with self-harm and death as well as stronger implicit positive a...
Self-injurious thoughts and behaviors (SITBs) are difficult to predict, and novel risk factors must be identified. While diminished interoception is associated with SITBs cross-sectionally, the curren...
Adults (N = 43) with recent SITBs completed assessments of interoception during a baseline visit. Participants then completed biweekly assessments for 6 months in which they reported the presence and ...
Multilevel models were performed, where baseline interoceptive measures predicted presence and severity/frequency of suicidal ideation and NSSI at follow-up. The Multidimensional Assessment of Interoc...
Diminished body trust predicted both suicidal ideation and NSSI, indicating a potential shared risk pathway. However, two interoception measures (Body Listening subscale and Body Perception Questionna...
Rates of self-injurious thoughts and behaviors (SITBs) increase sharply across adolescence and remain high in young adulthood. Across 50 years of research, existing interventions for SITBs remain inef...
Self-injurious behavior (SIB) is a significant public health concern in the United States, especially among adolescents with histories of maltreatment. This study compared maltreatment characteristics...
Participants (N = 124) aged 13-17 years completed questionnaires about their maltreatment and SIB histories....
Maltreatment rates were as follows: 90% NSSI group, 76% SA group, and 40% TDC group. Adolescents in the NSSI group reported significantly higher rates of emotional neglect compared to the SA group. Ma...
Our findings help elucidate the maltreatment profiles and reasons for SIB among adolescents engaged in NSSI or SA. Specific maltreatment experiences may also influence the reasons why adolescents enga...