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"name": "Comment diagnostiquer le mosaïcisme ?",
"position": 1,
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"text": "Le diagnostic se fait par analyse génétique et biopsies tissulaires."
}
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{
"@type": "Question",
"name": "Quels tests sont utilisés pour le mosaïcisme ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent le séquençage de l'ADN et l'analyse cytogénétique."
}
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"@type": "Question",
"name": "Le mosaïcisme peut-il être détecté prénatalement ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, par amniocentèse ou biopsie de villosités choriales."
}
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"@type": "Question",
"name": "Quels signes cliniques peuvent indiquer un mosaïcisme ?",
"position": 4,
"acceptedAnswer": {
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"text": "Des anomalies physiques ou des troubles de développement peuvent être des indicateurs."
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"@type": "Question",
"name": "Quels sont les symptômes du mosaïcisme ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient selon les tissus affectés, incluant des malformations ou des troubles."
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"@type": "Question",
"name": "Le mosaïcisme peut-il affecter le développement intellectuel ?",
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"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 8,
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"@type": "Answer",
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"@type": "Question",
"name": "Le mosaïcisme peut-il causer des problèmes cardiaques ?",
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"@type": "Answer",
"text": "Certaines formes de mosaïcisme peuvent être associées à des malformations cardiaques."
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"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 10,
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"text": "Oui, l'expression des symptômes dépend des cellules affectées et de leur distribution."
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"@type": "Question",
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"position": 11,
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"text": "Le mosaïcisme ne peut pas être prévenu car il résulte de mutations somatiques."
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"name": "Y a-t-il des conseils pour les parents ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les parents peuvent bénéficier de conseils génétiques pour comprendre les risques."
}
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"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier des risques de mosaïcisme chez les enfants."
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"@type": "Question",
"name": "L'éducation prénatale est-elle utile ?",
"position": 14,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les habitudes de vie influencent-elles le mosaïcisme ?",
"position": 15,
"acceptedAnswer": {
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"text": "Non, le mosaïcisme est généralement indépendant des habitudes de vie des parents."
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"@type": "Question",
"name": "Quel traitement est disponible pour le mosaïcisme ?",
"position": 16,
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"@type": "Answer",
"text": "Le traitement dépend des symptômes et peut inclure des interventions chirurgicales."
}
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"@type": "Question",
"name": "Le mosaïcisme nécessite-t-il un suivi médical ?",
"position": 17,
"acceptedAnswer": {
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"text": "Oui, un suivi régulier est essentiel pour gérer les complications potentielles."
}
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"@type": "Question",
"name": "Des thérapies spécifiques existent-elles ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies ciblées peuvent être envisagées selon les symptômes et les tissus affectés."
}
},
{
"@type": "Question",
"name": "Le traitement est-il curatif ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais des soins peuvent améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Les médicaments sont-ils utilisés pour le mosaïcisme ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour traiter des symptômes spécifiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des malformations, des troubles de la croissance et des cancers."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme augmente-t-il le risque de cancer ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains types de mosaïcisme peuvent être associés à un risque accru de cancer."
}
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"@type": "Question",
"name": "Des complications neurologiques sont-elles possibles ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications neurologiques peuvent survenir selon les cellules affectées."
}
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{
"@type": "Question",
"name": "Le mosaïcisme peut-il affecter la fertilité ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines formes de mosaïcisme peuvent avoir un impact sur la fertilité."
}
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"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite une approche multidisciplinaire et un suivi régulier."
}
},
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"@type": "Question",
"name": "Quels sont les facteurs de risque du mosaïcisme ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des anomalies chromosomiques et des mutations génétiques."
}
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"@type": "Question",
"name": "L'âge parental influence-t-il le mosaïcisme ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques."
}
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"@type": "Question",
"name": "Des facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines expositions environnementales peuvent contribuer à des mutations somatiques."
}
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"@type": "Question",
"name": "Les antécédents familiaux sont-ils un facteur ?",
"position": 29,
"acceptedAnswer": {
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"text": "Les antécédents familiaux de maladies génétiques peuvent augmenter le risque."
}
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"@type": "Question",
"name": "Le mosaïcisme est-il lié à des infections ?",
"position": 30,
"acceptedAnswer": {
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"text": "Certaines infections virales peuvent être associées à des mutations, mais ce n'est pas direct."
}
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As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespa...
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Cancers cause significant mortality and morbidity in adolescents and young adults (AYAs), but their biological underpinnings are incompletely understood. Here, we analyze clinical and genomic disparit...
Taking another person's perspective provides a means to infer their beliefs and intentions (known as Theory of Mind), which is an essential part of social interaction. In this article, we examined how...
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This study documents the current provision of care to young people on an adult inpatient medical ward at a large tertiary teaching hospital in Auckland....
Forty-three staff and 40 patients aged 16-24 years on an adult medical ward completed surveys, which were based on the Northern Regional Alliance, Northern Regional Youth Health Network Standards for ...
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Internal consistency reliability was high for the CPQ...
The CPQ...