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"name": "Quels outils pour analyser un pedigree ?",
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"name": "Comment interpréter un pedigree ?",
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"name": "Quels symptômes peuvent indiquer une maladie héréditaire ?",
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"name": "Comment les symptômes varient selon les générations ?",
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"name": "Les symptômes sont-ils toujours présents dans un pedigree ?",
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"text": "Non, certains porteurs de gènes peuvent ne pas exprimer de symptômes visibles."
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"name": "Peut-on prédire des symptômes à partir d'un pedigree ?",
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"text": "Oui, un pedigree peut aider à prédire la probabilité d'apparition de certains symptômes."
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"@type": "Question",
"name": "Quels sont les symptômes de la maladie de Huntington ?",
"position": 10,
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"text": "Les symptômes incluent des troubles moteurs, cognitifs et psychiatriques, souvent visibles à l'âge adulte."
}
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{
"@type": "Question",
"name": "Comment prévenir les maladies héréditaires ?",
"position": 11,
"acceptedAnswer": {
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"text": "La prévention inclut le dépistage, le conseil génétique et des choix de vie sains."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il utile ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, il permet de détecter certaines maladies génétiques avant la naissance."
}
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{
"@type": "Question",
"name": "Quels tests génétiques sont recommandés ?",
"position": 13,
"acceptedAnswer": {
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"text": "Des tests pour des maladies spécifiques peuvent être recommandés selon les antécédents familiaux."
}
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{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il la prévention ?",
"position": 14,
"acceptedAnswer": {
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"text": "Un mode de vie sain peut réduire le risque d'expression de certaines maladies héréditaires."
}
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{
"@type": "Question",
"name": "Les vaccinations aident-elles à prévenir des maladies héréditaires ?",
"position": 15,
"acceptedAnswer": {
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"text": "Non, les vaccinations ne préviennent pas les maladies héréditaires, mais elles préviennent d'autres infections."
}
},
{
"@type": "Question",
"name": "Comment le pedigree influence-t-il le traitement ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il permet de personnaliser les traitements en fonction des antécédents familiaux et des risques."
}
},
{
"@type": "Question",
"name": "Quels traitements pour les maladies héréditaires ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements varient, incluant la thérapie génique, les médicaments et la gestion des symptômes."
}
},
{
"@type": "Question",
"name": "Le dépistage précoce est-il important ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il permet d'initier un traitement précoce et d'améliorer le pronostic des maladies héréditaires."
}
},
{
"@type": "Question",
"name": "Quels sont les traitements pour la fibrose kystique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des médicaments, des thérapies respiratoires et des soins de soutien."
}
},
{
"@type": "Question",
"name": "Comment les conseils génétiques aident-ils au traitement ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils fournissent des informations sur les risques et les options de traitement pour les familles."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des maladies héréditaires ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications variées comme des troubles organiques, des handicaps ou des maladies associées."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications des maladies héréditaires ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion inclut un suivi médical régulier et des traitements adaptés aux complications."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être prévisibles grâce à l'analyse du pedigree et des antécédents."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications de la maladie de Tay-Sachs ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et une espérance de vie réduite."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un dépistage et une intervention précoce."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les maladies héréditaires ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des facteurs environnementaux."
}
},
{
"@type": "Question",
"name": "Comment les antécédents familiaux influencent-ils le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents familiaux de maladies augmentent la probabilité de développer des conditions similaires."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains facteurs environnementaux peuvent interagir avec des prédispositions génétiques."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils identifier des facteurs de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests peuvent révéler des mutations génétiques associées à des maladies héréditaires."
}
},
{
"@type": "Question",
"name": "Comment réduire les facteurs de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "On peut réduire les facteurs de risque par des choix de vie sains et un suivi médical régulier."
}
}
]
}
]
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knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community....
to map existing bone and mineral conditions registries in Europe and their characteristics....
online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN...
sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a regis...
There is a need for developing a common high-quality platform for registering rare bone and mineral conditions....
The development of artificial intelligence (AI) within nuclear imaging involves several ethically fraught components at different stages of the machine learning pipeline, including during data collect...
Selecting and collecting data to support appropriate primary and secondary outcomes is a critical step in designing trials that can change clinical practice. In this study, we aimed to investigate who...
One-with-one semi-structured interviews, supported by a topic guide to ensure coverage of key content. The Framework approach was used for thematic analysis of data, and themes were linked through con...
We identified three descriptive themes encompassing the process of primary and secondary outcome selection, collection, and the publication of outcome data. Within these themes, participants raised is...
People involved in the design and conduct of trials fail to connect decisions around outcome selection with data collection workload. Publication of outcome data and effective dissemination of trial r...
Patients often provide untruthful information about their health to avoid embarrassment, evade treatment, or prevent financial loss. Privacy disclosures (e.g. HIPAA) intended to dissuade privacy conce...
Single-particle analysis (SPA) by cryo-electron microscopy (cryo-EM) is now a mainstream technique for high-resolution structural biology. Structure determination by SPA relies upon obtaining multiple...
Alcohol biosensors, including the BACtrack Skyn, provide an objective and passive method of continuously assessing alcohol consumption in the natural environment. Despite the many strengths of the Sky...
Procedures from several laboratory and field-based pilot studies are presented to demonstrate practical recommendations for Skyn use. Data from a pilot study including a 7-day ecological momentary ass...
To address challenges in the collection and processing of data from the BACtrack Skyn alcohol biosensor, researchers should identify goals in advance of data collection to anticipate the processing ne...
The global COVID-19 pandemic has affected data collection for many researchers, in particular research that involves face-to-face interviews....
To share learning about the challenges encountered when face-to-face interviews could not continue as planned in a study and how to adapt data collection so that it can continue despite severe disrupt...
This article examines the considerations and actions taken by the authors to ensure the continuity of data collection. The research aimed to use narrative inquiry to understand the experiences of sign...
Adapting data collection is valuable in ensuring the continuity of research. Careful consideration and planning are required to ensure the research remains robust and ethically sound....
Adapting data collection methods can allow for greater flexibility when participants cannot attend face-to-face interviews....
Metal complexes play a crucial role in pharmaceutical sciences owing to their wide and significant activities. Schiff bases (SBs) are multifaceted pharmacophores capable of forming chelating complexes...
Infant oral mutilation (IOM) is a traditional practice involving extraction of an infant's unerupted primary tooth buds. IOM has implications for oral and overall health due to blood loss, infection o...
The demand and consumption of immunoglobulins (IgGs) are growing, and there are many difficulties in obtaining supplies. The aim of the study was to analyze the evolution of IgG consumption and cost o...
We performed a retrospective longitudinal study including patients of all public health systems in Catalonia. First, we analyzed data on consumption and cost of IgGs during a period between 1 January,...
Overall, in terms of population, the consumption of IgGs (g/1,000 inhabitants) increased from 40.4 in 2010 to 94.6 in 2021. The mean cost per patient increased from €10,930 in 2010 to €15,595 in 2021....
The annual consumption and cost of IgGs have grown steadily over the last decade in our regional public health system. After implementing a set of regional measures, the annual consumption of IgGs per...