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Intramolecular oxidoreductases
Aldose-ketose isomerases
Aldose-ketose isomerases : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en aldose-kétose isomérases ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests enzymatiques et des analyses génétiques peuvent confirmer la déficience."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des isomérases ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests biochimiques mesurant l'activité enzymatique dans des échantillons de sang ou d'urine."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils indiquer un problème d'isomérases ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des symptômes métaboliques peuvent suggérer une anomalie dans l'activité des isomérases."
}
},
{
"@type": "Question",
"name": "Y a-t-il des marqueurs biologiques spécifiques ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des niveaux anormaux de certains sucres dans le sang peuvent servir de marqueurs."
}
},
{
"@type": "Question",
"name": "Comment les tests génétiques aident-ils au diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils identifient des mutations spécifiques dans les gènes codant pour les isomérases."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en isomérases ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent hypoglycémie, troubles digestifs et retard de croissance."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent apparaître dès la naissance ou plus tard dans l'enfance."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des troubles neurologiques peuvent survenir en raison de déséquilibres métaboliques."
}
},
{
"@type": "Question",
"name": "Comment les symptômes affectent-ils la qualité de vie ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent entraîner des limitations dans l'alimentation et des problèmes de santé chroniques."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils réversibles ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent être gérés, mais d'autres peuvent persister sans traitement."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les déficiences en isomérases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"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."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de troubles métaboliques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Le dépistage génétique est-il recommandé ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le dépistage génétique peut être conseillé pour les familles à risque d'anomalies enzymatiques."
}
},
{
"@type": "Question",
"name": "Comment l'éducation peut-elle aider à la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"text": "Le traitement inclut des régimes alimentaires spécifiques et des suppléments enzymatiques."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la santé globale ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent entraîner des problèmes de santé chroniques et affecter la qualité de vie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications à long terme peuvent survenir sans traitement approprié."
}
},
{
"@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,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux et certaines mutations génétiques."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent interagir avec des prédispositions génétiques."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Comment le mode de vie affecte-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire le risque de complications liées aux déficiences enzymatiques."
}
}
]
}
]
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Para-alpine sit skiers face unique challenges in balance control due to their disabilities and the use of sit skis. This study assessed their multi-joint coordination before and after slackline traini...
Nine alpine sit skiers (6 M/3 F; 27 ± 8 years; height: 168.3 ± 6.0 cm; body mass: 55.4 ± 6.9 kg) with different disabilities (LW10-LW12) volunteered for the experiment. All subjects performed slacklin...
After training, performance improved significantly with an increase in balance time (1041%, p = 0.002), and a decrease in joint angular velocities and RMS amplitude of the sit ski foot (p < 0.05). Joi...
Our findings showed the development of joint coordination involving better control of the hip and sit skis during the challenging slackline training task....
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Two independent reviewers screened abstracts and full text for inclusion and independently extracted data....
MEDLINE, Embase, and Web of Science....
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Reading speed and visual discomfort resulting from electronic device usage can be objectively assessed using an eye tracker and aberrometer. Additionally, changes found in central and peripheral retin...
In this study, we investigated the gas-sensing mechanism in bottom-gate organic field-effect transistors (OFETs) using poly(triarylamine) (PTAA). A comparison of different device architectures reveale...
Monitoring visual fields via virtual reality device proved to have good inter-test and test-retest reliability as well as easy usability when self-administered by individuals with and without visual f...
To assess the reliability of remote, self-administered visual field monitoring using a virtual reality visual field (VRVF) device in individuals without ocular disease and with stable visual field def...
Individuals without ocular disease and with stable defects were recruited. All participants had a baseline standard automated perimetry (SAP) test. Participants tested remotely on a VRVF device for fo...
A total of 42 eyes from 21 participants were tested on the VRVF device. Participants tested consistently although external factors impacted outcomes. VRVF results were in reasonable agreement with the...
Self-administered, remote VF tests on a VRVF device showed satisfactory test-retest reliability, good inter-test agreement with SAP, and acceptability by its users. External factors may impact at-home...
The flow diverter (FD) device has become a feasible and effective option for treating intracranial aneurysms. This study aimed to evaluate the efficacy and safety of Tubridge FD (TFD) in treating intr...