Titre : Pedigree

Pedigree : Questions médicales fréquentes

Termes MeSH sélectionnés :

Data Collection
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"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=6#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=6#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=6#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=6#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=6#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)

Feasibility of Tablet-Based Remote Data Collection Method for Measuring Hearing Aid Preference.

The purpose of this study was to determine the feasibility of a tablet-based remote data collection method for measuring preference for hearing aid signal processing features.... Participants were nine individuals with bilateral mild to moderately severe sensorineural hearing loss. Stimuli were spatialized low-context sentences mixed with six-talker babble at two realistic sig... McNemar's test showed no association between preference and data collection method for the majority of the conditions. Percentage agreement and kappa scores were moderate/fair across most conditions. ... The tablet-based version of remote experimentation was comparable to the lab-based version for eliciting preference for hearing aid signal processing features....

Impact of Using A Mixed Data Collection Modality on Statistical Inferences in Decentralized Clinical Trials.

Decentralized clinical trials offer the promise of reduced patient burden, faster and more diverse recruitment, and have received regulatory support during the COVID-19 pandemic. However, lack of data... In this article we evaluate the estimation and statistical inference for three scenarios: (1) all onsite measurements, (2) a mixture of onsite and decentralized measurements, and (3) all decentralized... In the mixed modality setting, simulation studies showed that the estimation and inference for the key time points with onsite measurements have good properties and are not impacted by the additional ... Mixed modality trials can help achieve the benefits of decentralized clinical trials by reducing the number of onsite visits with little impact on statistical inferences for various estimands, compare...

The DACRIN data project: A process for harmonising data collection for clinical research in alcohol and other drugs services in New South Wales.

Standardised data collection processes allow for harmonisation and comparison of data across different studies and services. This project aimed to develop a 'core dataset' to serve as the default coll... A working group was established, comprising clinicians, researchers, data managers and consumers from public sector and non-government organisation AOD services in the NSW Drug and Alcohol Clinical Re... There were 20-40 attendees at each meeting. An initial consensus criterion of having received >70% of the vote was established. Given the difficulty in reaching consensus for most items, subsequently,... This important process received considerable interest and buy-in across the NSW AOD sector. Ample opportunity for discussion and voting was provided for the three domains of interest, allowing partici...

Consistency as a Data Quality Measure for German Corona Consensus Items Mapped from National Pandemic Cohort Network Data Collections.

As a national effort to better understand the current pandemic, three cohorts collect sociodemographic and clinical data from coronavirus disease 2019 (COVID-19) patients from different target populat... The goal of this work is to assure high consistency of research data mapped to the GECCO data model. In particular, it aims at identifying contradictions within interdependent GECCO data items of the ... All suitable data items from each of the three NAPKON cohorts are mapped to the GECCO items. A consistency assessment tool (dqGecco) is implemented, following the design of an existing quality assessm... Our consistency assessment tool helped in correcting the mapping procedure and reveals remaining contradictory value combinations within COVID-19 symptoms, vital signs, and COVID-19 severity. Consiste... An efficient and portable tool capable of discovering inconsistencies in the COVID-19 domain has been developed and applied to three different cohorts. As the GECCO dataset is employed in different pl...

Essential data dimensions for prospective international data collection in older age bipolar disorder (OABD): Recommendations from the GAGE-BD group.

By 2030, over 50% of individuals living with bipolar disorder (BD) are expected to be aged ≥50 years. However, older age bipolar disorder (OABD) remains understudied. There are limited large-scale pro... We developed initial recommendations for the essential dimensions for OABD data collection, based on (1) a systematic review of measures used in OABD studies, (2) a Delphi consensus of international O... We identified 15 key dimensions and variables within each that are relevant for the investigation of OABD: (1) demographics, (2) core symptoms of depression and (3) mania, (4) cognition screening and ... The essential data dimensions we present should be of use to guide future international data collection in OABD and clinical practice. In the longer term, we aim to establish a prospective consortium ...

Core Data Elements for Pregnancy Pharmacovigilance Studies Using Primary Source Data Collection Methods: Recommendations from the IMI ConcePTION Project.

The risks and benefits of medication use in pregnancy are typically established through post-marketing observational studies. As there is currently no standardised or systematic approach to the post-m... This CDE reference framework was developed within the Innovative Medicines Initiative (IMI) ConcePTION project by experts in pharmacovigilance, pharmacoepidemiology, medical statistics, risk-benefit c... The finalised listing of CDEs comprises 98 individual data elements, arranged into 14 tables of related fields. These data elements are openly available on the European Network of Teratology Informati... With this set of recommendations, we aim to standardise PregPV primary source data collection processes to improve the speed at which high-quality evidence-based statements can be provided about the s...

Wearable alcohol monitors for alcohol use data collection among college students: Feasibility and acceptability.

We assessed the feasibility and acceptability of using BACtrack Skyn wearable alcohol monitors for alcohol research in a college student population.... We enrolled n = 5 (Sample 1) and n = 84 (Sample 2) Indiana University undergraduate students to wear BACtrack Skyn devices continuously over a 5-day to 7-day study period. We assessed feasibility in b... All participants were able to successfully use the alcohol monitors, producing a total of 11,504 h of TAC data. TAC data were produced on 567 days of the 602 total possible days of data collection. Th... The high feasibility and acceptability we observed underscore the promise of using BACtrack Skyn wearable alcohol monitors to improve our understanding of alcohol consumption among college students, a...

Five tips for conducting remote qualitative data collection in COVID times: theoretical and pragmatic considerations.

To provide five methodological and pragmatic tips for conducting remote qualitative data collection during the context of the COVID-19 pandemic.... The tips presented in this article are drawn from insights of our own experiences as researchers conducting remote qualitative research and from the evidence from the literature on qualitative methods... Five tips are provided: 1) Pay attention to ethical issues; 2) Identify and select potential participants; 3) Choose the type of remote interview; 4) Be prepared to conduct the remote interview; and 5... Despite the challenges in conducting remote data collection, strengths are also acknowledged and our experience has shown that it is feasible to recruit and interview participants remotely. The discus...