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Aldose-ketose isomerases
Aldose-ketose isomerases : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"description": "Comment diagnostiquer une déficience en aldose-kétose isomérases ?\nQuels tests sont utilisés pour évaluer l'activité des isomérases ?\nLes symptômes peuvent-ils indiquer un problème d'isomérases ?\nY a-t-il des marqueurs biologiques spécifiques ?\nComment les tests génétiques aident-ils au diagnostic ?",
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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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The study aimed to investigate the association between the start age of non-parental Early Childhood Education and Care (ECEC) and psycho-social problems in adolescence. The similarities and differenc...
Our sample consisted of 1022 children (621 from West Germany, 401 from East Germany) aged 3-4 years at wave 2003-2006 that were followed up to wave 2014-2017 as adolescents (mean ± SD age = 14.4 ± 0.0...
Those who started ECEC between 2 and 3 years old (reference) had the lowest scores of psycho-social problems in the whole Germany and in West Germany in adolescence. In comparison, those who started E...
The results suggest that if children start ECEC older than 3 years or younger than 2 years, more attention needs to be given to internalizing or externalizing psycho-social problems respectively. The ...
The ONWARDS phase 3a clinical trials evaluated once-weekly insulin icodec (icodec) versus once-daily basal insulin in type 2 diabetes. This analysis investigated the treatment-related experiences of p...
Patient-reported outcomes were only collected during ONWARDS 5 (icodec with a dosing guide app vs. once-daily basal analogues) and 2 (icodec vs. once-daily insulin degludec). ONWARDS 1 (icodec vs. onc...
In ONWARDS 5 and 2, there was a statistically significantly greater increase in total treatment satisfaction from baseline to end of treatment for icodec/icodec with app versus once-daily comparators,...
These results demonstrate improved treatment satisfaction with, and strong preferences for, once-weekly versus once-daily basal insulin. Treatment convenience and willingness to continue and recommend...
ONWARDS 1: NCT04460885; ONWARDS 2: NCT04770532; ONWARDS 5: NCT04760626....
Capecitabine has been widely prescribed to treat various cancers. The hand foot syndrome (HFS) is the most troublesome adverse effect. Urea cream has been pre-emptively co-prescribed, even though its ...
The investigators conducted a randomized single-blinded phase II study. The participants were randomized 1:1 to receive the combination of aloe vera gel and 10% urea cream (n = 30), the experimental A...
Most of the participants had rectal cancer (A+U: 43.3%; U: 41.9%). In the A+U group, 86.7% had grade 0-1 HFS and 13.3% had grade 2-3 HFS. In the U group, 64.5% had grade 0-1 HFS and 35.5% had grade 2-...
Combination of aloe vera gel and 10% urea cream ameliorated the severity of HFS in participants taking capecitabine; however, no significant difference in DLQI between the groups was demonstrated....
Clinical evidence of the preventive effectiveness of medium-class topical corticosteroids for capecitabine-induced hand foot syndrome (HFS) is limited. Although the pathogenesis and mechanism of HFS a...
This is a single-center, single-arm, phase 2 study. Patients with colorectal cancer scheduled to receive adjuvant chemotherapy with capecitabine plus oxaliplatin are enrolled, and topical hydrocortiso...
This study is expected to contribute to the establishment of new supportive care for preventing HFS, not only for colorectal cancer patients receiving adjuvant chemotherapy, but also for various cance...
This trial was registered in the Japan Registry of Clinical Trials (jRCT) as jRCTs031220002. Registered 5 April 2022, https://jrct.niph.go.jp/search Protocol version V.1.0, 16 February 2022....
Cellulite of the upper lateral and posterior thighs and lower buttocks represents a common unwanted condition....
The author sought to comparea LLLT-LED bed therapy and a novel topical anti-cellulite gel on one thigh/buttock cellulite vs light therapy for cellulite to the opposite side....
Eight healthy female subjects were randomly treated with a LLLT-LED bed twice weekly for 20 minutes in prone/supine positions with twice daily application of a novel anti-cellulite gel to one randomiz...
At the end of the 3-month trial, skin elasticity increased after combined therapy on one thigh but decreased with only LLLT-LED bed treatments on the opposite thigh. Thighs treated with active gel and...
The use of LLLT-LED bed therapy and an anti-cellulite gel demonstrated an efficient alternative in the treatment of cellulite-involved thighs/buttocks over similarly affected thighs/buttocks that were...
With the increasing number of joint replacement surgeries, periprosthetic joint infection (PJI) has become a significant concern in orthopedic practice, making research on PJI prevention paramount. Th...
The prospective randomized clinical trial will be conducted in two independent voivodeship hospitals with extensive experience in lower limb arthroplasties. The studied material will comprise 840 pati...
A randomized clinical trial comparing the effect of combined usage of povidone-iodine irrigation and vancomycin powder to the use of povidone-iodine irrigation alone in preventing PJIs after primary a...
ClinicalTrials.gov NCT05972603 . Registered on 2 August 2023....
The Perrotta Integrative Clinical Interview, second version (PICI-2) requires structural and functional updates, based on clinical and academic experience, especially in terms of functional traits and...
The present status of Cambodia, Myanmar, Laos, Vietnam, Mongolia, and Bhutan as of June 2019 was reviewed from the interviews of leading doctors in every country. The timing was until just 6 months be...
The Editor of JMFT discusses the state of research in systemic family therapy....