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"@type": "Question",
"name": "Comment diagnostiquer une anomalie de SMARCB1 ?",
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"text": "Le diagnostic se fait par analyse génétique et biopsie tumorale."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour détecter SMARCB1 ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent le séquençage de l'ADN et l'immunohistochimie."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent une mutation de SMARCB1 ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Les enfants sont-ils plus touchés par ces symptômes ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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."
}
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{
"@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."
}
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{
"@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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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare but disabling disorder that often requires long-term immunomodulatory treatment. Background incidence rates and prevalence an...
The purpose of this study is to investigate the effectiveness of the Netherlands' Pyramid method adapted to the Turkish Pre-School Education Program on language and early literacy skills of 5-year-old...
Differences in payment between men and women are common. The goal of this study was to assess differences in payment in a large Dutch university hospital....
The Human Resource Management & Organizational BehaviorCenter, University of Groningen conducted the study. Anonymous monthly data from UMCG employees from 2012-2020 (13,212 employees with a permanent...
Female employees earned on average less than their male colleagues throughout the entire period. In 2020, female medical specialists received an average of 6.1% less salary than male colleagues; for n...
We showed a gender payment gap within one of the largest university hospitals of the Netherlands, which is systematic, in time and throughout the institution. The most striking differences are due to ...
There is increasing interest in preference-accompanied measures of health for paediatric populations. The child-friendly EQ-5D version, EQ-5D-Y-3L, is one such instrument, but the lack of a Dutch valu...
Composite time trade-off data were collected using videoconferencing interviews, with each respondent completing ten composite time trade-off tasks. Discrete choice experiment data were collected usin...
The study collected preferences for 197 respondents using composite time trade-off and for 959 respondents using a discrete choice experiment. The discrete choice experiment sample was representative ...
This study generated a Dutch value set for the EQ-5D-Y-3L, which can be used for the computation of quality-adjusted life-years for economic evaluations of healthcare interventions in paediatric popul...
Prion diseases are being monitored in The Netherlands since 29 years, the national registry is coordinated by Erasmus Medical Center. Since 2010, yearly on average 31 new patients are diagnosed with p...
Same-sex parents face substantial stressors due to their sexual orientation, such as experiences of prejudice and prohibitive legal environments. This added stress is likely to lead to reduced physica...
In the Middle Ages and early modern times, hospitals were omnipresent in Western Europe, including the area within the current borders of the Netherlands. It is not generally known that these institut...
To gain insight into the volume of vitamin B12- and D-determinations over time....
A retrospective cohort study....
Using declaration data of around 3.5 million insured Dutch citizens we examined the volume of vitamin B12- and D-testing between 2015-2019. Both trends in number and proportion of patients receiving a...
Between 2015-2019 the number of vitamin B12-determinations increased by 98,1% and the number of vitamin D-determinations by 112%. The proportion of patients receiving a determination increased from 4,...
Both the number of and proportion of patients receiving a vitamin B12- and D-determinations increased over the examined time period. Our findings emphasize the need for proper patient and physician in...
The Netherlands has National Indication Protocols on proton therapy (PT) to select patients who benefit most from PT. However, referrals to proton therapy centres (PTCs) are lagging. The objective of ...
We conducted a nationwide survey among radiation oncologists (ROs), and semi- structured in-depth interviews with ROs and patients. Subsequently, four workshops were held, in which ROs from one PTC an...
The most prominent barriers mentioned by ROs were patient selection, poor logistics, and logistical worries about the combination of radiation treatment with chemotherapy. Patients pointed out the ine...
Barriers for access to PT were identified and prioritized in the inter-organisational care- pathway of proton therapy patients in The Netherlands. Innovative solutions were co- designed to solve the b...
Medicine shortages are often described in plain numbers, suggesting all shortages have a uniform impact. However, some shortages have a direct and serious effect on patients and need a prompt reaction...
We identified high impact shortages and selected exemplary shortages which we considered our learning cases. From five learning cases, we identified elements that had a potentially profound impact on ...
The five elements which we identified as potentially having a large impact were 1) alternative product, 2) disease, 3) susceptibility, 4) costs and 5) number of patients affected. The five learning ca...
We created a framework for assessing the impact of a medicine shortage on patients by means of five key elements. By rating these elements, an indication of the impact can be obtained....