Titre : Séquences d'acides nucléiques régulatrices

Séquences d'acides nucléiques régulatrices : Questions médicales fréquentes

Termes MeSH sélectionnés :

Data Accuracy
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"Answer", "text": "Les marqueurs épigénétiques comme la méthylation de l'ADN sont souvent associés." } }, { "@type": "Question", "name": "Comment évaluer l'activité d'une séquence régulatrice ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'activité peut être évaluée par des essais de reporter génique." } }, { "@type": "Question", "name": "Quels symptômes sont liés à des anomalies régulatrices ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Des anomalies peuvent entraîner des maladies génétiques, des cancers ou des troubles métaboliques." } }, { "@type": "Question", "name": "Les séquences régulatrices affectent-elles le développement ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles jouent un rôle crucial dans le développement embryonnaire et cellulaire." } }, { "@type": "Question", "name": "Peut-on observer des symptômes neurologiques ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Certaines mutations régulatrices peuvent être liées à des troubles neurologiques." } }, { "@type": "Question", "name": "Les troubles hormonaux sont-ils liés à ces séquences ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des séquences régulatrices peuvent influencer la régulation hormonale." } }, { "@type": "Question", "name": "Y a-t-il des symptômes immunologiques associés ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Des anomalies peuvent entraîner des dysfonctionnements du système immunitaire." } }, { "@type": "Question", "name": "Comment prévenir les maladies liées aux séquences régulatrices ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention passe par le dépistage génétique et la sensibilisation aux facteurs de risque." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils utiles ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils aident à évaluer le risque et à prendre des décisions éclairées." } }, { "@type": "Question", "name": "Peut-on éviter les mutations par des choix de vie ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Certains choix de vie, comme l'alimentation et l'exercice, peuvent réduire les risques." } }, { "@type": "Question", "name": "Les vaccinations jouent-elles un rôle ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations peuvent prévenir des infections qui influencent l'expression génique." } }, { "@type": "Question", "name": "Y a-t-il des programmes de sensibilisation ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des programmes éducatifs sensibilisent aux maladies génétiques et à leur prévention." } }, { "@type": "Question", "name": "Quels traitements ciblent les séquences régulatrices ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Des thérapies géniques et des médicaments ciblant des voies spécifiques sont en développement." } }, { "@type": "Question", "name": "Peut-on corriger des mutations régulatrices ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Des techniques comme CRISPR permettent de corriger certaines mutations." } }, { "@type": "Question", "name": "Les traitements sont-ils personnalisés ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la médecine personnalisée adapte les traitements selon le profil génétique." } }, { "@type": "Question", "name": "Quels sont les défis des traitements ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les défis incluent la spécificité, l'efficacité et les effets secondaires potentiels." } }, { "@type": "Question", "name": "Y a-t-il des essais cliniques en cours ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, de nombreux essais cliniques explorent des thérapies ciblant ces séquences." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications incluent des cancers, des troubles métaboliques et des maladies auto-immunes." } }, { "@type": "Question", "name": "Les complications sont-elles héréditaires ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être héréditaires, liées à des mutations dans les séquences régulatrices." } }, { "@type": "Question", "name": "Comment les complications sont-elles gérées ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "La gestion implique un suivi médical régulier et des traitements adaptés." } }, { "@type": "Question", "name": "Y a-t-il des risques de récidive ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains troubles peuvent avoir un risque de récidive, nécessitant une surveillance." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque génétiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Des antécédents familiaux de maladies génétiques augmentent le risque." } }, { "@type": "Question", "name": "L'environnement influence-t-il ces séquences ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des facteurs environnementaux comme les toxines peuvent affecter l'expression génique." } }, { "@type": "Question", "name": "Le mode de vie joue-t-il un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des habitudes comme le tabagisme et l'alimentation peuvent influencer le risque." } }, { "@type": "Question", "name": "Les infections sont-elles un facteur de risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections peuvent déclencher des modifications dans les séquences régulatrices." } }, { "@type": "Question", "name": "Y a-t-il des facteurs de risque liés à l'âge ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le risque de maladies génétiques augmente avec l'âge." } } ] } ] }

Sources (10000 au total)

Initiatives, Concepts, and Implementation Practices of the Findable, Accessible, Interoperable, and Reusable Data Principles in Health Data Stewardship: Scoping Review.

Thorough data stewardship is a key enabler of comprehensive health research. Processes such as data collection, storage, access, sharing, and analytics require researchers to follow elaborate data man... This scoping review identifies and discusses concepts, approaches, implementation experiences, and lessons learned in FAIR initiatives in health research data.... The Arksey and O'Malley stage-based methodological framework for scoping reviews was applied. PubMed, Web of Science, and Google Scholar were searched to access relevant publications. Articles written... A total of 2.18% (34/1561) of the screened articles were included in the final review. The authors reported FAIRification approaches, which include interpolation, inclusion of comprehensive data dicti... This work summarises projects, tools, and workflows for the FAIRification of health research data. The comprehensive review shows that implementing the FAIR concept in health data stewardship carries ... RR2-10.2196/22505....

Data quality and autism: Issues and potential impacts.

Large healthcare datasets can provide insight that has the potential to improve outcomes for patients. However, it is important to understand the strengths and limitations of such datasets so that the... Data were extracted from the HES database for the period 1st April 2013 to 31st March 2021 for patients with a diagnosis of autism. First spells in hospital during the study period were identified for... Data were available for 172,324 unique patients who had been recorded as having an autism diagnosis on first admission. In total, 43.7 % of subsequent spells were found to have inconsistencies. The fe... Data inconsistencies in the HES database were relatively common in autistic patients and were associated a number of patient and hospital admission characteristics. Such inconsistencies have the poten...

The Detection of Date Shifting in Real-World Data.

Analysis of health care real-world data (RWD) provides an opportunity to observe the actual patient diagnostic, treatment, and outcome events. However, researchers should understand the possible limit... A methodology for detecting the presence of shifted dates in RWD was developed by considering various approaches to confirm the expected occurrences of medical events, including unique temporal occurr... Twenty-eight of the 71 HCOs analyzed were predicted by methodology and confirmed by their data providers to have shifted data. Likewise, 39 were predicted and confirmed to not have shifted data. With ... The presence of date shifting for U.S. HCOs may be reliably detected assessing whether the routine exams should always occur on weekdays....

Assessing the quality of emergency department data for injury surveillance in Victoria, Australia: a comparative analysis of two Victorian hospital data sources.

The emergency department (ED) is pivotal in treating serious injuries, making it a valuable source for population-based injury surveillance. In Victoria, information that is relevant to injury surveil... A retrospective observational study of administrative healthcare data.... VEMD and VAED data from July 2014 to June 2019 were compared. Including only hospitals contributing to both datasets, cases that (1) arrived at the ED and (2) were subsequently admitted, were selected... While the overall number of cases was similar, VAED outnumbered VEMD cases (414 630 vs 404 608), suggesting potential under-reporting of injuries in the ED. Age-related differences indicated a relativ... Injury cases were more numerous in the VAED than in the VEMD even though the number is expected to be equal based on case selection. Older patients were under-represented in the VEMD; this could partl...

Improving the Data Quality of Untargeted Metabolomics through a Targeted Data-Dependent Acquisition Based on an Inclusion List of Differential and Preidentified Ions.

Metabolomics based on high-resolution mass spectrometry has become a powerful technique in biomedical research. The development of various analytical tools and online libraries has promoted the identi...

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...

Routine use of DHIS2 data: a scoping review.

In regard to health service planning and delivery, the use of information at different levels in the health system is vital, ranging from the influencing of policy to the programming of action to the ... The five-stage approach of Arksey and O'Malley progressed by Levac et al. and Peters was followed. Three databases (PubMed, Web of Science and Embase) were searched, along with relevant conference pro... Overall, DHIS2 data are being used but there are few detailed descriptions of this usage in peer reviewed or grey literature. We find that, commonly, there exists a centralised versus decentralised pa... We conclude with some suggestions for a way forward, namely: i) the need to document in more detail and share how data are being used, ii) the need to investigate how data were created and who uses su...

"We don't trust all data coming from all facilities": factors influencing the quality of care network data quality in Ethiopia.

Good quality data are a key to quality health care. In 2017, WHO has launched the Quality of Care Network (QCN) to reduce maternal, newborn and stillbirth mortality via learning and sharing networks. ... This paper seeks to explore how QCN has contributed to improving data quality and to identify factors influencing quality of data in Ethiopia.... We conducted a qualitative study in selected QCN facilities in Ethiopia using key informant interview and observation methods. We interviewed 40 people at national, sub-national and facility levels. N... There was a general perception that QCN had improved health data documentation and use in the learning facilities, achieved through coaching, learning and building from pre-existing initiatives. QCN a... There is evidence of QCN's contribution to improving data awareness. But a lack of inclusive engagement of actors, alignment and limited skill for data collection and analysis continued to affect data...