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"name": "Comment diagnostiquer une anomalie de SMARCB1 ?",
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"text": "Le diagnostic se fait par analyse génétique et biopsie tumorale."
}
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"@type": "Question",
"name": "Quels tests sont utilisés pour détecter SMARCB1 ?",
"position": 2,
"acceptedAnswer": {
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"text": "Les tests incluent le séquençage de l'ADN et l'immunohistochimie."
}
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{
"@type": "Question",
"name": "Quels signes cliniques indiquent une mutation de SMARCB1 ?",
"position": 3,
"acceptedAnswer": {
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"text": "Des tumeurs rhabdoïdes, des douleurs abdominales ou des masses palpables peuvent indiquer une mutation."
}
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"@type": "Question",
"name": "La biopsie est-elle nécessaire pour le diagnostic ?",
"position": 4,
"acceptedAnswer": {
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"text": "Oui, la biopsie est souvent nécessaire pour confirmer la présence de mutations SMARCB1."
}
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"@type": "Question",
"name": "Quels spécialistes sont impliqués dans le diagnostic ?",
"position": 5,
"acceptedAnswer": {
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"text": "Les oncologues, généticiens et pathologistes sont généralement impliqués."
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"@type": "Question",
"name": "Quels sont les symptômes des tumeurs liées à SMARCB1 ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des douleurs, des masses, et des troubles neurologiques selon la localisation."
}
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{
"@type": "Question",
"name": "Les symptômes varient selon le type de cancer ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes dépendent du type de cancer associé à la mutation SMARCB1."
}
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"@type": "Question",
"name": "Y a-t-il des symptômes précoces de la maladie ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes précoces peuvent être vagues, comme la fatigue ou des douleurs légères."
}
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{
"@type": "Question",
"name": "Les enfants sont-ils plus touchés par ces symptômes ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, les tumeurs rhabdoïdes affectent principalement les enfants, souvent avec des symptômes aigus."
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{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils avec le temps ?",
"position": 10,
"acceptedAnswer": {
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"text": "Les symptômes peuvent s'aggraver rapidement, nécessitant une attention médicale urgente."
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{
"@type": "Question",
"name": "Peut-on prévenir les mutations de SMARCB1 ?",
"position": 11,
"acceptedAnswer": {
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"text": "Actuellement, il n'existe pas de méthode prouvée pour prévenir ces mutations."
}
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{
"@type": "Question",
"name": "Y a-t-il des tests de dépistage recommandés ?",
"position": 12,
"acceptedAnswer": {
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"text": "Des tests génétiques peuvent être recommandés pour les familles à risque."
}
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{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, des antécédents familiaux de cancers peuvent augmenter le risque de mutations SMARCB1."
}
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{
"@type": "Question",
"name": "Des conseils de mode de vie peuvent-ils aider ?",
"position": 14,
"acceptedAnswer": {
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"text": "Un mode de vie sain peut réduire le risque global de cancer, mais pas spécifiquement pour SMARCB1."
}
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{
"@type": "Question",
"name": "Les vaccinations peuvent-elles prévenir les cancers ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines vaccinations peuvent prévenir des cancers, mais pas ceux liés à SMARCB1."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour les tumeurs SMARCB1 ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la chirurgie, la chimiothérapie et la radiothérapie."
}
},
{
"@type": "Question",
"name": "La thérapie ciblée est-elle efficace contre SMARCB1 ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des recherches sont en cours sur les thérapies ciblées, mais leur efficacité varie."
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{
"@type": "Question",
"name": "Quel est le rôle de la chimiothérapie ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La chimiothérapie vise à réduire la taille des tumeurs et à prévenir la récidive."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils différents chez les enfants ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction de l'âge et de la santé de l'enfant."
}
},
{
"@type": "Question",
"name": "Y a-t-il des effets secondaires des traitements ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les effets secondaires peuvent inclure nausées, fatigue et immunosuppression."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec SMARCB1 ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent la progression tumorale, la métastase et des effets secondaires des traitements."
}
},
{
"@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 gérer les complications liées au traitement ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite un suivi médical régulier et des soins symptomatiques."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications spécifiques aux enfants ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent éprouver des complications uniques liées à leur développement."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour SMARCB1 ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et l'âge."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle dans le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer le risque, mais leur impact est encore étudié."
}
},
{
"@type": "Question",
"name": "Les enfants sont-ils plus à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants sont plus susceptibles de développer des tumeurs liées à SMARCB1."
}
},
{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains facteurs de risque, comme le mode de vie, peuvent être modifiés pour réduire le risque."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests pour évaluer le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent aider à évaluer le risque de mutations SMARCB1."
}
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Cardiovascular behavioral medicine has significantly advanced the knowledge base regarding the mechanisms by which psychological and behavioral factors can impact cardiovascular function and has devel...
A statistic often quoted is that <15% of research is translated into practice and routine adoption of novel research findings can take up to 17 years. Dissemination and implementation science is a fie...
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This is a narrative review of the current and potential applications of D&I approaches for understanding and advancing healthcare equity, followed by discussion and feedback with Summit attendees....
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We undertook a qualitative study using semi-structured interviews. Participants held either a formal leadership role, were research active or a consumer advocate and affiliated with either a specialis...
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IS requires a shift in one's thinking, away from questions and outcomes that define traditional clinical or translational research, including QI. Instead, in the IS rather than the QI literature, the ...
Research in pediatric critical care practice must acknowledge the limitations and potential for patient harm that may result from a failure to implement evidence-based or professionals' consensus-base...
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a participatory research study using an implementation science framework, the Consolidated Framework for Implementation Research (CFIR) was employed to determine drivers and facilitators of implementa...
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implementation of the Golden Hour protocol introduced an appropriate and feasible neonatal care quality improvement process, which requires periodic refresher training to ensure greater adherence and ...
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We adopted a comprehensive implementation research perspective to synthesize the barriers to and facilitators of implementing telemedicine interventions for the management of hypertension, diabetes, o...
We performed a scoping review involving searches in Ovid MEDLINE, Embase, CINAHL, Cochrane Library, Web of Science, and Google Scholar to identify studies published in English from 2017 to 2022 descri...
Of the 17,687 records identified, 35 (0.2%) studies were included in our scoping review. We found that facilitators of and barriers to implementation were dispersed across the constructs of the Consol...
Our findings suggest that the successful implementation of telemedicine interventions for hypertension and diabetes requires comprehensive efforts at the planning, execution, engagement, and reflectio...
Many public health challenges are characterized by complexity that reflects the dynamic systems in which they occur. Such systems involve multiple interdependent factors, actors, and sectors that infl...