questionsmedicales.fr
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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{
"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques associés ?",
"position": 8,
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"text": "Des troubles neurologiques peuvent survenir en raison de déséquilibres métaboliques."
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"position": 9,
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{
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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,
"acceptedAnswer": {
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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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"text": "Oui, des antécédents familiaux de troubles métaboliques augmentent le risque."
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{
"@type": "Question",
"name": "Le dépistage génétique est-il recommandé ?",
"position": 14,
"acceptedAnswer": {
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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,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour traiter les symptômes associés, comme l'hypoglycémie."
}
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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": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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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"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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"name": "Comment les complications affectent-elles la santé globale ?",
"position": 23,
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"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
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"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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{
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"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
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"text": "Les facteurs incluent des antécédents familiaux et certaines mutations génétiques."
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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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"text": "Oui, certains facteurs de risque sont plus fréquents chez les nourrissons et les jeunes enfants."
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"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 28,
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"@type": "Question",
"name": "Y a-t-il des tests pour évaluer les facteurs de risque ?",
"position": 29,
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"text": "Des tests génétiques peuvent identifier des mutations associées à un risque accru."
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"name": "Comment le mode de vie affecte-t-il le risque ?",
"position": 30,
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 09/02/2025
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" :
Human growth hormone (hGH) therapy in children can be administered by subcutaneous injection using either a manual non-connected device, which is a portable injection pen loaded with a pre-filled cart...
This retrospective study reports treatment of either GH deficiency or short stature secondary to birth size small for gestational age (SGA) in 174 pediatric patients attending Miguel Servet Hospital, ...
In total, 57% of subjects had GHD and 43% were SGA. Height standard deviation score (HSDS) at treatment start was higher (p<0.001) in the non-connected device group compared to the connected device gr...
These results support the use of the connected device for hGH treatment of pediatric growth disorders....
Achondroplasia is the most common form of disproportionate severe short stature. Management of achondroplasia requires a multidisciplinary approach and has been largely symptomatic for medical complic...
Digital health has seen rapid advancements over the last few years in helping patients and their healthcare professionals better manage treatment for a variety of illnesses, including growth hormone (...
Maternal education is one of the main ways to improve children's nutritional behaviors and development. The purpose of this study is to investigate the effect of educational intervention based on Heal...
This quasi-experimental study was conducted on mothers of 6-12 months children with growth disorders of Ghirokarzin city, Fars province, Iran in 2021-2022. One hundred twenty mothers of 6-12 months ch...
A questionnaire beased on Health Belief Model constructs were used to collect information. The data was analyzed with SPSS 22 software using paired t-tests, Chi-square tests, and independent t-tests, ...
Three months after the educational intervention, the experimental group showed a significant increase in terms of knowledge, HBM constructs, weight of the children and feeding behavior....
This study showed the educational intervention based on the HBM improved the knowledge and feeding behavior of mothers and improved Growth Disorders of child. Hence, this model can act as a framework ...
The purpose of this study was to develop and validate a clinical predictive model for predicting the likelihood of a poor therapeutic response during the first year of recombinant human growth hormone...
A total of 627 pediatric patients with growth disorders (GHD, ISS, TS, SGA) from The LG Growth Study cohort were evaluated. Restricted cubic splines (RCS) were utilized to investigate the association ...
Two predictive models containing 8 baseline predictors (diagnosis, age, height SDS, bone age minus chronological age, rhGH dosage, distance from mid-parental height in SDS, weight SDS, IGF-1 SDS) and ...
The clinical predictive model for predicting the probability of poor short-term response of rhGH treatment in pediatric patients with growth disorders is useful and can assist physicians in making cli...
Many childhood-onset growth disorders (COGDs) require continued care into adulthood, and the time of transition between paediatric and adult providers carries a high risk for interruptions in medical ...
Research into best practices for healthcare transition (HCT) describes three distinct stages. Stage 1, transition planning and preparation, begins in the paediatric setting during early adolescence an...
This review covers general principles for ensuring smooth transition of adolescents and young adults (AYA) with COGD, disease-specific medical considerations for paediatric and adult endocrinologists ...
Growth hormone deficiency (GHD) is a rare disorder characterized by inadequate secretion of growth hormone (GH) from the anterior pituitary gland. One of the challenges in optimizing GH therapy is imp...
The MOOC entitled 'Telemedicine: Tools to Support Growth Disorders in a Post-COVID Era' was launched in 2021. It was designed to cover 4 weeks of online learning with an expected commitment of 2 h per...
Out of 219 learners enrolled in the MOOC, 31 completed both the pre- and post-course assessments. Of the evaluated learners, 74% showed improved scores in the post-course assessment, resulting in a me...
This "first-of-its-kind" MOOC can improve digital health literacy in the management of growth disorders. This is a crucial step toward improving the digital capability and confidence of healthcare pro...
Age estimation based on DNA methylation (DNAm) can be applied to children, adolescents and adults, but many CG dinucleotides (CpGs) exhibit different kinetics of age-associated DNAm across these age r...
Early diagnosis of childhood growth disorders, their timely and proper treatment are important for better outcomes.The aim of the present study was to assess the results of the first 18 months of the ...
In 2019, Partners4Growth started operation at 7 centres (4 experienced and 3 twin centres) with the main aim of aligning their practices in the shortest possible time. Education of twin centres' perso...
A total of 104 new patients were diagnosed compared to 30 in the previous year. Of those, 91 started rhGH treatment - 65 (64 %) GH deficient, 12 (12 %) Turner syndrome, 7 (7 %) Prader-Willi syndrome p...
Partners4Growth facilitated the alignment of the tertiary pediatric endocrinology centres competences thus leading to an improved diagnosis and treatment of growth disorders as well as better patients...
Severe short stature is a feature of acrodysostosis, but data on growth are sparse. Treatment with recombinant human growth hormone (rhGH) is used in some centers to increase final height, but no stud...
We present auxological data from individuals with genetically characterized iPPSD4, and participants with clinical features of iPPSD5....
We included 20 and 17 individuals with iPPSD4 and iPPSD5, respectively. The rhGH-treated iPPSD4 patients (n = 9) were smaller at birth than those who did not receive rhGH (median - 2.2 SDS vs. - 1.7 S...
Final height may be positively influenced by rhGH in patients with acrodysostosis/iPPSD. Our rhGH-treated cohort started therapy relatively late, which might explain, at least in part, the limited eff...