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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 peuvent-ils indiquer un problème d'isomérases ?",
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"position": 7,
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}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques associés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Des troubles neurologiques peuvent survenir en raison de déséquilibres métaboliques."
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"name": "Comment les symptômes affectent-ils la qualité de vie ?",
"position": 9,
"acceptedAnswer": {
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"text": "Ils peuvent entraîner des limitations dans l'alimentation et des problèmes de santé chroniques."
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{
"@type": "Question",
"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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"text": "La prévention est difficile, mais un dépistage néonatal peut aider à identifier les cas précoces."
}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques préventifs ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"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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"text": "Le dépistage génétique peut être conseillé pour les familles à risque d'anomalies enzymatiques."
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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."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette condition ?",
"position": 16,
"acceptedAnswer": {
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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."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"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."
}
},
{
"@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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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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}
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"name": "Comment les complications affectent-elles la santé globale ?",
"position": 23,
"acceptedAnswer": {
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"text": "Elles peuvent entraîner des problèmes de santé chroniques et affecter la qualité de vie."
}
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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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"text": "Oui, des complications à long terme peuvent survenir sans traitement approprié."
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"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une gestion proactive des symptômes peut réduire le risque de complications graves."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
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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,
"acceptedAnswer": {
"@type": "Answer",
"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,
"acceptedAnswer": {
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"text": "Des facteurs environnementaux peuvent interagir avec des prédispositions génétiques."
}
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{
"@type": "Question",
"name": "Y a-t-il des tests pour évaluer les facteurs de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent identifier des mutations associées à un risque accru."
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"@type": "Question",
"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" :
The rate of open tibia fractures is rapidly increasing across the globe due to a recent rise in road traffic accidents, predominantly in low- and low-middle-income countries. These injuries are orthop...
This is a prospective randomized, masked, placebo-controlled superiority trial designed to evaluate the efficacy of locally administered gentamicin versus placebo in the prevention of fracture-related...
This study will definitively assess the effectiveness of local gentamicin for the prevention of fracture-related infections in adults with open tibia fractures in Tanzania. The results of this study h...
Clinicaltrials.gov NCT05157126. Registered on December 14, 2021....
The incidence of proximal intra-articular tibial fractures is continuously increasing. In addition to high-energy trauma in young patients, osteoporotic fractures occur more frequently in geriatric pa...
Variation in tibia geometry is a risk factor for tibial stress fractures. Geometric variability in bones is often quantified using statistical shape modelling. Statistical shape models (SSM) offer a m...
Lower limb computed tomography (CT) scans from the right tibia-fibula of 30 cadavers (male...
Overall size was the main source of variation in all three models accounting for 90.31%, 84.24% and 85.06%. Other sources of geometric variation in the tibia surface models included overall and midsha...
Variations that could increase the risk of tibial stress injury were observed, these included general tibial thickness, midshaft thickness, tibial length and medulla cavity diameter (indicative of cor...
Tibial tuberosity fractures occur in fewer than 1% of all paediatric fractures. We present this unusual case of an early adolescent football player who presented to the emergency department after sust...
Total knee arthroplasty has been popular in recent years. Morphometry of proximal tibia is important for surgeons to perform successful total knee arthroplasty. Aim of this study was to reappraise the...
In this study, 57 human dry tibia were evaluated. Anteroposterior and mediolateral dimensions of tibial condyles, maximum width of superior articular surface and length of tibia were measured. Further...
Mean anteroposterior and mediolateral dimensions of medial tibial condyle were found 39.76 and 23.27 mm, respectively. Mean anteroposterior and mediolateral dimensions of lateral tibial condyle were m...
The morphometric data of tibial plateau are important for surgeons during total knee arthroplasty. The superoinferior and mediolateral dimensions of the Gerdy's tubercle, the distance between Gerdy's ...
Childhood fractures involving the physis potentially result in premature physeal closure that can lead to growth disturbances. Growth disturbances are challenging to treat with associated complication...
Data were retrospectively collected from patients undergoing fracture treatment at a level I pediatric trauma center between 2008 and 2018. The study was limited to patients 0.5 to 18.9 years with a t...
A total of 1,585 patients met the inclusion criteria. The incidence of CSGD was 5.0% (95% confidence interval, 3.8% to 6.6%). All cases of growth disturbance occurred within 2 years of initial injury....
All CSGDs occurred within 2 years of injury, indicating that these injuries should be followed for a period of at least 2 years. Patients with distal femoral or proximal tibial physeal fractures that ...
Level III Retrospective Cohort Study....
SummaryGiant cell tumours of bone are benign and locally aggressive tumours that usually occur in young adults and at the epiphysial locations after physeal closure. Occurrence outside of epiphysial l...
Uneven settlement of the proximal tibia significantly contributes to the onset and progression of medial compartment knee OA; however, the specific location and variations of proximal tibial deformity...
In this retrospective study, we reviewed the radiographs of 414 patients (789 legs) between May and September 2021. The medial proximal tibial angle (MPTA) and four anatomic angles of the tibia (i.e.,...
In females, PT-EL angle, EL-PF angle, and SAIA negatively correlated with MPTA (r = -0.325, -0.246, and -0.502; p < 0.05), and EAIA positively correlated with MPTA (r = 0.099, p < 0.05). Regression an...
Proximal tibial vara is affected by the anatomic morphology of the epiphyseal and subepiphyseal regions. In females, the uneven settlement of the epiphysis progresses with age and may be responsible f...
A 28-year-old man presented for a painful lower extremity mass. Imaging revealed a nonspecific, poorly defined lucent lesion in the left distal tibial cortex with scalloping. The diagnosis of intracor...
An intracortical schwannoma is a rare, benign lesion which may have atypical radiological findings and nonspecific presentations. Definitive diagnosis is made with permanent histology and S-100 immuno...
This study investigates the occurrence of (progressive) posttraumatic valgus deformity after proximal metaphyseal greenstick fractures of the tibia in young children, and whether non-surgical or surgi...
A retrospective multi-center study was conducted including surveys and X-rays of patients < 12 years of age with a fracture of the proximal tibia. In patients with greenstick fractures, the medial pro...
Of a total of 322 fractures, 91 were greenstick fractures. Of these, 74 were treated non-surgically and 17 were treated surgically. The mean MPTA at trauma of non-surgically treated patients was 91.14...
Progressive valgus deformity after greenstick fractures of the proximal tibia occurred in both non-surgically and surgically treated patients. In non-surgically treated patients, this was of statistic...
III, retrospective analysis....