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"description": "Comment établir un pedigree familial ?\nQuels outils pour analyser un pedigree ?\nQuelle est l'importance du pedigree en médecine ?\nComment interpréter un pedigree ?\nQuelles maladies peuvent être identifiées par un pedigree ?",
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"name": "Comment établir un pedigree familial ?",
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}
},
{
"@type": "Question",
"name": "Quels outils pour analyser un pedigree ?",
"position": 2,
"acceptedAnswer": {
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"text": "Des logiciels de généalogie et des diagrammes sont utilisés pour visualiser les relations et les maladies."
}
},
{
"@type": "Question",
"name": "Quelle est l'importance du pedigree en médecine ?",
"position": 3,
"acceptedAnswer": {
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"text": "Il aide à identifier les risques héréditaires et à orienter le dépistage et le traitement."
}
},
{
"@type": "Question",
"name": "Comment interpréter un pedigree ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "On analyse les symboles et les lignes pour comprendre les transmissions héréditaires."
}
},
{
"@type": "Question",
"name": "Quelles maladies peuvent être identifiées par un pedigree ?",
"position": 5,
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"text": "Des maladies comme la fibrose kystique, la maladie de Huntington et d'autres troubles génétiques."
}
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{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer une maladie héréditaire ?",
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"text": "Des symptômes variés comme des anomalies congénitales, des troubles métaboliques ou neurologiques."
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"name": "Comment les symptômes varient selon les générations ?",
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"text": "Les symptômes peuvent apparaître différemment selon les générations en raison de la variabilité génétique."
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"@type": "Question",
"name": "Les symptômes sont-ils toujours présents dans un pedigree ?",
"position": 8,
"acceptedAnswer": {
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"text": "Non, certains porteurs de gènes peuvent ne pas exprimer de symptômes visibles."
}
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"@type": "Question",
"name": "Peut-on prédire des symptômes à partir d'un pedigree ?",
"position": 9,
"acceptedAnswer": {
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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,
"acceptedAnswer": {
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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."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il la prévention ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire le risque d'expression de certaines maladies héréditaires."
}
},
{
"@type": "Question",
"name": "Les vaccinations aident-elles à prévenir des maladies héréditaires ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"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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Family health history (FHx) is an important predictor of a person's genetic risk but is not collected by many adults in the United States....
This study aims to test and compare the usability, engagement, and report usefulness of 2 web-based methods to collect FHx....
This mixed methods study compared FHx data collection using a flow-based chatbot (KIT; the curious interactive test) and a form-based method. KIT's design was optimized to reduce user burden. We recru...
Participants randomized to KIT reported higher usability than those randomized to the form, with a mean System Usability Scale score of 80.2 versus 61.9 (P<.001), respectively. The engagement analysis...
We showed that KIT provided a usable way to collect FHx. We also identified design considerations to improve chatbot-based FHx data collection: First, the final report summarizing the FHx collection e...
The syndemic between opioid use disorder (OUD), hepatitis C virus (HCV), and human immunodeficiency virus (HIV) results in excessive burdens on the healthcare system. Integrating these siloed systems ...
Data for this study were gathered from publicly available datasets and reports from government (SAMSHA, CMS, HRSA and CDC) sites. We created, where possible, COCs for HIV, HCV, and OUD spanning popula...
The process of data collection showed that baseline COCs examining the intersections of OUD, HIV, and HCV cannot be produced and that there are missing data in all states examined. Collection of speci...
It is difficult to assess the strategies needed or the progress made towards increasing treatment access and decreasing the burden of disease without the ability to construct an accurate baseline. Usi...
There is a lack of comprehensive and uniform data on head and neck paragangliomas (HNPGLs), and research is challenging due to its rarity and the involvement of multiple medical specialties. To improv...
The HNPGL Registry is designed as a prospective longitudinal observational registry for data collection on HNPGL patients and carriers of (likely) pathogenic variants causative of HNPGLs. All patients...
The HNPGL Registry data will be used to further establish the optimal management for HNPGL patients and lay the foundation for guideline recommendations and the outline of future research....
It is essential that electronic data collection (EDC) systems are both compliant with regulations and the principles of Good Clinical Practice (GCP) to allow for the timely and accurate reporting of d...
A multi-disciplinary working group came together from a UK academic clinical trials unit (CTU) to establish if an electronic system could be created in the unit's open-source EDC system-REDCap, to man...
A module has been created in REDCap to facilitate electronic SAE reporting: enabling an AE form to automatically trigger an SAE form for any AE which is also a SAE, prepopulating relevant fields of th...
The eSAE Project coded into REDCap offers a unique way of populating SAE forms with information already entered in the initial AE forms as applicable, coupled with highlighting any updates during the ...
Patient support programs (PSPs) offer a unique opportunity to collect real-world data that can contribute to improving patient care and informing healthcare decision making. In this perspective articl...
Adaptive deep brain stimulation (aDBS) shows promise for improving treatment for neurological disorders such as Parkinson's disease (PD). aDBS uses symptom-related biomarkers to adjust stimulation par...
There is increasing interest in collecting sociodemographic and social needs data in hospital settings to inform patient care and health equity. However, few studies have examined inpatients' views on...
A qualitative interpretive description methodology was used. Semi-structured interviews were conducted with 18 patients admitted to a large academic hospital in Toronto, Canada. Participants were recr...
Patients expressed that sociodemographic and social needs data collection is important to offer actionable solutions to address their needs. Patients described a gap between their ideal care which wou...
While the collection of sociodemographic and social needs information in hospital settings is generally acceptable, there were varied views on whether hospital staff should intervene, as their priorit...
The integration of health and activity data from various wearable devices into research studies presents technical and operational challenges. The Awesome Data Acquisition Method (ADAM) is a versatile...
Recently, unmanned aerial vehicles (UAVs) have emerged as a viable solution for data collection from remote Internet of Things (IoT) applications. However, the successful implementation in this regard...
The Longitudinal Early-Onset Alzheimer's Disease Study (LEADS) seeks to provide comprehensive understanding of early-onset Alzheimer's disease (EOAD; onset <65 years), with the current study profiling...
Data from 371 LEADS participants were compared based on diagnostic group classification (cognitively normal [n = 89], amyloid-positive EOAD [n = 212], and amyloid-negative early-onset non-Alzheimer's ...
Cognitive performance was worse for EOAD than other groups, and EOAD participants were apolipoprotein E (APOE) ε4 homozygotes at higher rates. An amnestic presentation was common among impaired partic...
We present the most comprehensive baseline characterization of sporadic EOAD in the United States to date. EOAD presents with widespread cognitive impairment within and across clinical phenotypes, wit...
Findings represent the most comprehensive baseline characterization of sporadic early-onset Alzheimer's disease (EOAD) to date. Cognitive impairment was widespread for EOAD participants and more sever...