Titre : Pedigree

Pedigree : Questions médicales fréquentes

Termes MeSH sélectionnés :

Data Collection
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"https://questionsmedicales.fr/mesh/D010375?mesh_terms=Data+Collection&page=10#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Pedigree", "description": "Quels symptômes peuvent indiquer une maladie héréditaire ?\nComment les symptômes varient selon les générations ?\nLes symptômes sont-ils toujours présents dans un pedigree ?\nPeut-on prédire des symptômes à partir d'un pedigree ?\nQuels sont les symptômes de la maladie de Huntington ?", "url": "https://questionsmedicales.fr/mesh/D010375?mesh_terms=Data+Collection&page=10#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Pedigree", "description": "Comment prévenir les maladies héréditaires ?\nLe dépistage prénatal est-il utile ?\nQuels tests génétiques sont recommandés ?\nComment le mode de vie influence-t-il la prévention ?\nLes vaccinations aident-elles à prévenir des maladies héréditaires ?", "url": "https://questionsmedicales.fr/mesh/D010375?mesh_terms=Data+Collection&page=10#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Pedigree", "description": "Comment le pedigree influence-t-il le traitement ?\nQuels traitements pour les maladies héréditaires ?\nLe dépistage précoce est-il important ?\nQuels sont les traitements pour la fibrose kystique ?\nComment les conseils génétiques aident-ils au traitement ?", "url": "https://questionsmedicales.fr/mesh/D010375?mesh_terms=Data+Collection&page=10#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Pedigree", "description": "Quelles complications peuvent survenir avec des maladies héréditaires ?\nComment gérer les complications des maladies héréditaires ?\nLes complications sont-elles prévisibles ?\nQuelles sont les complications de la maladie de Tay-Sachs ?\nLes complications peuvent-elles être évitées ?", "url": "https://questionsmedicales.fr/mesh/D010375?mesh_terms=Data+Collection&page=10#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Pedigree", "description": "Quels sont les facteurs de risque pour les maladies héréditaires ?\nComment les antécédents familiaux influencent-ils le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes tests génétiques peuvent-ils identifier des facteurs de risque ?\nComment réduire les facteurs de risque ?", "url": "https://questionsmedicales.fr/mesh/D010375?mesh_terms=Data+Collection&page=10#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment établir un pedigree familial ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un pedigree est établi en collectant des informations sur les membres de la famille et leurs maladies." } }, { "@type": "Question", "name": "Quels outils pour analyser un pedigree ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "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": { "@type": "Answer", "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, "acceptedAnswer": { "@type": "Answer", "text": "Des maladies comme la fibrose kystique, la maladie de Huntington et d'autres troubles génétiques." } }, { "@type": "Question", "name": "Quels symptômes peuvent indiquer une maladie héréditaire ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Des symptômes variés comme des anomalies congénitales, des troubles métaboliques ou neurologiques." } }, { "@type": "Question", "name": "Comment les symptômes varient selon les générations ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent apparaître différemment selon les générations en raison de la variabilité génétique." } }, { "@type": "Question", "name": "Les symptômes sont-ils toujours présents dans un pedigree ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Non, certains porteurs de gènes peuvent ne pas exprimer de symptômes visibles." } }, { "@type": "Question", "name": "Peut-on prédire des symptômes à partir d'un pedigree ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un pedigree peut aider à prédire la probabilité d'apparition de certains symptômes." } }, { "@type": "Question", "name": "Quels sont les symptômes de la maladie de Huntington ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des troubles moteurs, cognitifs et psychiatriques, souvent visibles à l'âge adulte." } }, { "@type": "Question", "name": "Comment prévenir les maladies héréditaires ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "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": { "@type": "Answer", "text": "Oui, il permet de détecter certaines maladies génétiques avant la naissance." } }, { "@type": "Question", "name": "Quels tests génétiques sont recommandés ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "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." } } ] } ] }

Sources (10000 au total)

Recruitment, data collection, participation rate, and representativeness of the international cross-sectional PRICOV-19 study across 38 countries.

Recruitment for surveys has been a great challenge, especially in general practice.... Here, we reported recruitment strategies, data collection, participation rates (PR) and representativeness of the PRICOV-19 study, an international comparative, cross-sectional, online survey among ge... Nine (24%) countries reported a published invitation; 19 (50%) had direct contact with all GPs/GP practices; 19 (50%) contacted a sample of GPs /GP practices; and 7 (18%) used another invitation strat... Our main contribution here was to describe the survey recruitment and representativeness of PRICOV-19, an important and novel study....

Smartphone applications are used for self-management, telerehabilitation, evaluation and data collection in low back pain healthcare: a scoping review.

Smartphone use has grown in providing healthcare for patients with low back pain (LBP), but the literature lacks an analysis of the use of smartphone apps. This scoping review aimed to identify curren... We searched PubMed, PEDro and Embase for articles published in English up to May 3... We included 43 articles: randomised controlled trials (RCTs) (n=12), study protocols (n=6), reliability/validity studies (n=6), systematic reviews (n=7), cohort studies (n=4), qualitative studies (n=6... This scoping review revealed a notable interest in the scientific literatures regarding the use of smartphone apps for LBP patients. The identified purposes point to current scientific status and pers...

Musculoskeletal Disorder (MSD) Health Data Collection, Personalized Management and Exchange Using Fast Healthcare Interoperability Resources (FHIR).

With the proliferation and growing complexity of healthcare systems emerges the challenge of implementing scalable and interoperable solutions to seamlessly integrate heterogenous data from sources su...

Guidance of development, validation, and evaluation of algorithms for populating health status in observational studies of routinely collected data (DEVELOP-RCD).

In recent years, there has been a growing trend in the utilization of observational studies that make use of routinely collected healthcare data (RCD). These studies rely on algorithms to identify spe... We systematically developed guidance for the development, validation, and evaluation of algorithms designed to identify health status (DEVELOP-RCD). Our initial efforts involved conducting both a narr... A standardized workflow for algorithm development, validation, and evaluation was established. Guided by specific health status considerations, the workflow comprises four integrated steps: assessing ... The establishment of guidance is intended to aid researchers and clinicians in the appropriate and accurate development and application of algorithms for identifying health status from RCD. This guida...

Independent and joint association of sarcopenia and frailty with mortality in older patients with gastrointestinal cancer: a cohort study with prospective data collection.

Sarcopenia and frailty are associated with mortality in older patients with gastrointestinal cancer. However, it is unclear if there is an additional risk when both are present. This study aimed to in... A prospective cohort study including older patients (≥ 60 years old) with gastrointestinal cancer. Sarcopenia was defined by the EWGSP2 criteria: (i) low muscle strength (handgrip test), (ii) low musc... We evaluated 179 patients with gastrointestinal cancer [68.0 (61.0-75.0) years old; 45% women]. The prevalence of sarcopenia, frailty, and sarcopenia-frailty was 32.9% (n = 59), 59.2% (n = 106), and 2... Sarcopenic-frail older patients with gastrointestinal cancer have a higher risk of mortality than those with sarcopenia or frailty alone, which reinforces the importance of assessing both conditions i...

Understanding data collection strategies for the ethical inclusion of older adults with disabilities in transitional care research: A scoping review protocol.

A growing body of evidence suggests that older adults are particularly vulnerable to poor care as they transition across care environments. Thus, they require transitional care services as they transi... The proposed scoping review follows the framework originally described by the Joanna Briggs Institute (JBI) Manual: (1) developing a search strategy, (2) evidence screening and selection, (3) data ext... The overarching goal of this study is to develop strategies to assist the research community in increasing the inclusion of older adults with disabilities in transitional care research. The findings o...

'More than just numbers on a page?' A qualitative exploration of the use of data collection and feedback in youth mental health services.

This study aimed to explore current data collection and feedback practice, in the form of monitoring and evaluation, among youth mental health (YMH) services and healthcare commissioners; and to ident... Qualitative semi-structured interviews were conducted via Zoom videoconferencing software. Data collection and analysis were informed by the Theoretical Domains Framework (TDF). Data were deductively ... Healthcare commissioning organisations and YMH services in Australia.... Twenty staff from healthcare commissioning organisations and twenty staff from YMH services.... The umbrella behaviour 'monitoring and evaluation' (ME) can be sub-divided into 10 specific sub-behaviours (e.g. planning and preparing, providing technical assistance, reviewing and interpreting data... Importantly, this study illustrated that the use of ME could be improved. YMH services, healthcare commissioners should collaborate on ME plans and meaningfully involve young people and families where...

Data collection methods for patient-reported outcome measures in cancer randomised controlled trials: a protocol for a rapid scoping review.

There are different modes and ways to assess patient-reported outcomes (PROs) in clinical trials. However, there is little systematic information on how often different modes of assessment (MOA) are u... This scoping review protocol follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Relevant trials will be identified via their indexed publications. We will searc... The proposed review is based on secondary, published data. Hence, no ethics review is necessary. The review is part of an ongoing project on the use of electronic data capture methods in cancer clinic...