Titre : Aberrations des chromosomes

Aberrations des chromosomes : Questions médicales fréquentes

Termes MeSH sélectionnés :

Data Accuracy
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complications peuvent survenir avec des aberrations chromosomiques ?\nLes aberrations chromosomiques augmentent-elles le risque de cancer ?\nLes problèmes cardiaques sont-ils fréquents avec ces anomalies ?\nLes troubles du comportement sont-ils liés aux aberrations chromosomiques ?\nLes complications peuvent-elles affecter la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D002869?mesh_terms=Data+Accuracy&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Aberrations des chromosomes", "description": "Quels sont les facteurs de risque d'aberrations chromosomiques ?\nL'exposition à des substances toxiques augmente-t-elle le risque ?\nLes antécédents familiaux jouent-ils un rôle ?\nLe stress peut-il influencer le risque d'anomalies ?\nLes infections pendant la grossesse sont-elles un facteur de risque ?", "url": "https://questionsmedicales.fr/mesh/D002869?mesh_terms=Data+Accuracy&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on une aberration chromosomique ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par analyse cytogénétique, comme le caryotype." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour détecter les aberrations chromosomiques ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent le caryotype, l'hybridation in situ et le séquençage génétique." } }, { "@type": "Question", "name": "Les échographies peuvent-elles détecter des anomalies chromosomiques ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines anomalies peuvent être suspectées par échographie prénatale." } }, { "@type": "Question", "name": "Quel rôle joue le conseil génétique dans le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Le conseil génétique aide à évaluer le risque et à interpréter les résultats des tests." } }, { "@type": "Question", "name": "Les tests sanguins peuvent-ils révéler des aberrations chromosomiques ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des tests sanguins peuvent détecter des anomalies chromosomiques spécifiques." } }, { "@type": "Question", "name": "Quels sont les symptômes des aberrations chromosomiques ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes varient, incluant des malformations congénitales et des retards de développement." } }, { "@type": "Question", "name": "Les aberrations chromosomiques causent-elles des troubles mentaux ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines aberrations peuvent être associées à des troubles du développement intellectuel." } }, { "@type": "Question", "name": "Peut-on avoir des symptômes sans aberration chromosomique visible ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines anomalies peuvent ne pas être visibles mais entraîner des symptômes." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon le type d'aberration ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes dépendent du type d'aberration et des gènes affectés." } }, { "@type": "Question", "name": "Les anomalies chromosomiques peuvent-elles affecter la fertilité ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines aberrations peuvent entraîner des problèmes de fertilité ou des fausses couches." } }, { "@type": "Question", "name": "Peut-on prévenir les aberrations chromosomiques ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Certaines aberrations ne peuvent pas être prévenues, mais le conseil génétique aide à évaluer les risques." } }, { "@type": "Question", "name": "Le dépistage prénatal peut-il réduire les risques ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage prénatal permet d'identifier les risques d'anomalies chromosomiques." } }, { "@type": "Question", "name": "Les habitudes de vie influencent-elles les aberrations chromosomiques ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Certaines habitudes, comme l'alcool et le tabac, peuvent augmenter le risque d'anomalies." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir des anomalies ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations peuvent prévenir des infections qui pourraient causer des anomalies." } }, { "@type": "Question", "name": "Le suivi médical avant la grossesse est-il important ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi médical peut aider à identifier et gérer les risques avant la grossesse." } }, { "@type": "Question", "name": "Quels traitements existent pour les aberrations chromosomiques ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement dépend des symptômes, incluant thérapies, chirurgie ou soutien éducatif." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option pour ces anomalies ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais pas encore largement disponible pour ces anomalies." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider à gérer les symptômes ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des médicaments peuvent être prescrits pour gérer certains symptômes associés." } }, { "@type": "Question", "name": "Le suivi médical est-il important pour ces patients ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller les complications et ajuster les traitements." } }, { "@type": "Question", "name": "Les interventions précoces sont-elles bénéfiques ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les interventions précoces peuvent améliorer le développement et la qualité de vie." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec des aberrations chromosomiques ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des malformations, des troubles de la croissance et des problèmes de santé." } }, { "@type": "Question", "name": "Les aberrations chromosomiques augmentent-elles le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines aberrations chromosomiques sont associées à un risque accru de cancer." } }, { "@type": "Question", "name": "Les problèmes cardiaques sont-ils fréquents avec ces anomalies ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines aberrations chromosomiques peuvent entraîner des malformations cardiaques." } }, { "@type": "Question", "name": "Les troubles du comportement sont-ils liés aux aberrations chromosomiques ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles du comportement peuvent être associés à certaines anomalies chromosomiques." } }, { "@type": "Question", "name": "Les complications peuvent-elles affecter la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque d'aberrations chromosomiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et des expositions environnementales." } }, { "@type": "Question", "name": "L'exposition à des substances toxiques augmente-t-elle le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des substances toxiques peut augmenter le risque d'anomalies chromosomiques." } }, { "@type": "Question", "name": "Les antécédents familiaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux d'anomalies chromosomiques augmentent le risque." } }, { "@type": "Question", "name": "Le stress peut-il influencer le risque d'anomalies ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certaines études suggèrent que le stress peut avoir un impact sur le risque d'anomalies chromosomiques." } }, { "@type": "Question", "name": "Les infections pendant la grossesse sont-elles un facteur de risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines infections pendant la grossesse peuvent augmenter le risque d'anomalies chromosomiques." } } ] } ] }

Sources (10000 au total)

Excellent agreement of Norwegian trauma registry data compared to corresponding data in electronic patient records.

The Norwegian Trauma Registry (NTR) is designed to monitor and improve the quality and outcome of trauma care delivered by Norwegian trauma hospitals. Patient care is evaluated through specific qualit... We validated 49 of the 118 variables registered in the NTR by comparing those with the corresponding ones in electronic patient records for 180 patients with a trauma diagnosis admitted in 2019 at eig... Almost perfect agreement (AC... All tested variables in the Norwegian Trauma Registry displayed excellent agreement with the corresponding variables in electronic patient records. Variables in the registry that showed missing data n...

Assessment of immunization data management practices in Cameroon: unveiling potential barriers to immunization data quality.

One crucial obstacle to attaining universal immunization coverage in Sub-Saharan Africa is the paucity of timely and high-quality data. This challenge, in part, stems from the fact that many frontline... A descriptive cross-sectional study was conducted, involving health districts and health facilities in all 10 regions in Cameroon selected by a multi-stage sampling scheme. Structured questionnaires a... A total of 265 facilities in 68 health districts were assessed. There was limited availability of some data recording tools like vaccination cards (43%), maintenance registers (8%), and stock cards (5... Our findings unveil important gaps in data collection practices at the facility level that could adversely affect Cameroon's immunization data quality. It highlights the urgent need for systematic cap...

Mdwgan-gp: data augmentation for gene expression data based on multiple discriminator WGAN-GP.

Although gene expression data play significant roles in biological and medical studies, their applications are hampered due to the difficulty and high expenses of gathering them through biological exp... In this study, an improved data augmentation approach MDWGAN-GP, a generative adversarial network model with multiple discriminators, is proposed. In addition, a novel method is devised for enriching ... The experimental results have demonstrated that compared with other state-of-the-art methods, the MDWGAN-GP method can produce higher quality generated gene expression data in most cases....

Accuracy of ethnicity records at primary and secondary healthcare services in Waikato region, Aotearoa New Zealand.

Ethnicity is an important variable, and in Aotearoa New Zealand it is used to monitor population health needs, health services outcomes and to allocate resources. However, there is a history of underc... Through individual record linkage, prospective self-reported ethnicity, collected using New Zealand Census and Ministry of Health - Manatū Hauora ethnicity protocol as a "gold standard", was compared ... Māori were undercounted in secondary NHI (32.5%) and primary care (31.3%) datasets compared to self-reported (34.6%). Between 9.5-11% of individuals had a different ethnicity recorded in health datase... Routine health datasets fail to adequately collect ethnicity, particularly for those with multiple ethnicities. Inaccuracies disproportionately affect Māori and urgent efforts are needed to improve co...

Drivers and Barriers to Improved Data Quality and Data-Use Practices: An Interpretative Qualitative Study in Addis Ababa, Ethiopia.

An objective of the Information Revolution Roadmap of Ethiopia's Health Sector Transformation Plan was to improve health management information system (HMIS) data quality and data use at the point of ... We conducted an interpretative qualitative study across all 11 health centers in 3 subcities of Addis Ababa, Ethiopia: Yeka, Akaki-Kaliti, and Ledeta. A total of 40 key informant interviews and 6 focu... Our findings indicate that the main drivers of data quality and use at the point of service delivery were the use of the Connected Woreda strategy and its tools, capacity-building activities including... Improvements in quality and use of HMIS data at health facilities are expected to result in delivering better-quality health services to the community as data enable health workers to identify gaps in...

Validation of Multi-State EHR-Based Network for Disease Surveillance (MENDS) Data and Implications for Improving Data Quality and Representativeness.

Surveillance modernization efforts emphasize the potential use of electronic health record (EHR) data to inform public health surveillance and prevention. However, EHR data streams vary widely in thei... We developed a validation process for the Multi-State EHR-Based Network for Disease Surveillance (MENDS) pilot project to identify and resolve data quality issues that could affect chronic disease pre... We identified gaps in the EHR databases of data contributors and in the processes to extract, map, integrate, and analyze their EHR data. Examples of source-data problems included missing data on race... Validation protocols identified critical errors in both EHR source data and in the processes used to transform these data for analysis. Our experience highlights the value and importance of data valid...

Optimizing data integration in trials that use EHR data: lessons learned from a multi-center randomized clinical trial.

Despite great promise, trials that ascertain patient clinical data from electronic health records (EHR), referred to here as "EHR-sourced" trials, are limited by uncertainty about how existing trial s... We describe a demonstration project that used EHR data to complement data collected for a contemporary multi-center pharmaceutical industry outcomes trial, and how a central coordinating center suppor... While broadening the type of sites able to participate in EHR-sourced trials may lead to greater generalizability and improved enrollment, sites with fewer technical resources may require additional s...