Titre : Aberrations des chromosomes

Aberrations des chromosomes : Questions médicales fréquentes

Termes MeSH sélectionnés :

Evidence-Based Practice
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vaccinations peuvent-elles prévenir des anomalies ?\nLe suivi médical avant la grossesse est-il important ?", "url": "https://questionsmedicales.fr/mesh/D002869?mesh_terms=Evidence-Based+Practice&page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Aberrations des chromosomes", "description": "Quels traitements existent pour les aberrations chromosomiques ?\nLa thérapie génique est-elle une option pour ces anomalies ?\nLes médicaments peuvent-ils aider à gérer les symptômes ?\nLe suivi médical est-il important pour ces patients ?\nLes interventions précoces sont-elles bénéfiques ?", "url": "https://questionsmedicales.fr/mesh/D002869?mesh_terms=Evidence-Based+Practice&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Aberrations des chromosomes", "description": "Quelles 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=Evidence-Based+Practice&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=Evidence-Based+Practice&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)

Psychometric Evaluation of a Measure of Evidence-Based Practice in Occupational Health.

Occupational Health Services (OHS) are obliged to follow the principles of evidence-based medicine. However, there needs to be tools to measure this. Therefore, we developed and validated a questionna... The questionnaire's content validity was assessed by 12 experts in the field. Then, an opportunity sample of 549 OHS practitioners completed the questionnaire. We examined the questionnaire's psychome... The content validity index of the chosen items was 0.78 or higher. Exploratory factor analysis revealed that the measure's construct validity was adequate (KMO 0.9). Principal component factor analysi... The EBP-OHS is a valid tool for measuring occupational health services' evidence-based practice and enabling the implementation of research into practice. It embodies the phases of evidence transfer a...

Change in orthopaedic surgeon behaviour by implementing evidence-based practice.

Orthopaedic practice is not always aligned with new evidence which may result in an evidence-practice gap. Our aim was to present and report the use of a new model for implementation of evidence-based... A new implementation model from the Centre for Evidence-Based Orthopaedics (CEBO) was applied. It comprises four phases: 1) baseline practice is held up against best available evidence, and barriers t... Prior to application of the CEBO model, only VLP was used in the department. Based on best evidence, the symposium found that a change in practice was justified. A local guideline stating CRPP as firs... It is feasible to change surgeons' practice according to best evidence using the CEBO model.... None.... Not relevant....

Reducing the incidence of stroke-associated pneumonia: an evidence-based practice.

Pulmonary infection is a frequent complication among stroke patients and adversely affects clinical outcomes, increases the length of hospitalization stay and costs, and aggravates the financial burde... The evidence-based practice project evaluated the effectiveness of a standard care bundle intervention in preventing the occurrence of SAP.... The project was conducted in a neurology department of a teaching hospital. Given the variation in assessment and management standards, evidence-based practice (EBP) methodology was used to establish ... A significant improvement was observed in preventing SAP in patients in the postimplementation group compared with those in the preimplementation group (14.0% vs. 37.2%, p = 0.025). In addition, signi... Evidence-based care bundles successfully empower nurses to reduce the incidence of SAP. The management flow of SAP prevention could be promoted to other units of the neurology department in the future...

Adaptation and validation of the Evidence-based Practice Profile Questionnaire (EBP

Evidence-based practice (EBP) is an essential approach of optimizing patient outcomes and driving progress in clinical practice. As an important reserve talent of medical staff and researchers, the cl... Cross-cultural modification, including translating the original EBP... The Chinese EBP... Chinese version of EBP...

Investigating the influencing factors of evidence-based healthcare practice adoption.

In healthcare facilities, evidence-based healthcare practice (EBHP) is becoming more widely acknowledged as a critical element of patient care delivery. An increasingly important component of EBHP is ... This study aims to investigate factors that influence EBHP adoption in public healthcare institutions in South Africa.... Four hundred and fifty patients were self-administered to healthcare professionals at an academic public hospital in Gauteng and used in this study. A total of 300 responses were available for use in ... Perceived ease of use (PEOU) and perceived usefulness (PU) were found to be major variables in the adoption of EBHP along with technological, organisational and environmental factors. The technology c... Perceived ease of use, PU, ORGR, and GLRS are regarded as a vital variables in the implementation of EBHP in South African public hospitals.Contribution: The study's conclusions would be helpful to po...

A Study of Medical Surgical Nurses Leaders' Evidence-Based Practice Attributes: Critical Implications for Practice.

The purpose of this study was to determine medical-surgical nurse leaders' evidence-based practice (EBP) attributes, perceived barriers to EBP, and whether there were differences in leaders' EBP compe... Leaders are crucial to the development of cultures that support EBP implementation, but little is known about medical-surgical nurse leaders' capacity to perform this aspect of their role.... A cross-sectional design using survey methodology was used. The survey contained demographic/work setting questions and 3 instruments to measure EBP beliefs, implementation, and competencies.... Senior leaders self-reported higher EBP attributes compared with nurses in other roles; nurses with an MSN or higher reported greater frequency of EBP implementation. A regression revealed that EBP co... Findings demonstrate there is a range of EBP beliefs and competencies, and barriers to EBP among medical-surgical nurse leaders. Because medical-surgical nursing is the largest acute care practice spe...

Evidence- based physiotherapy practice in Jordan: Evaluation and identification of implementation factors.

Evidence-based physiotherapy practice (EBPTP) is becoming increasingly important to improve patient outcomes and clinical decision-making in the physiotherapy profession.... To evaluate the EBPTP in Jordan and identify the barriers to its implementation in clinical practice.... The study used a cross-sectional survey of licensed physiotherapists working in Jordan using EBPTP self-reported questionnaire. Frequencies, percentages, and one sample Wilcoxon rank test were used to... A total of 210 participants completed the survey. All EBPTP questionnaire elements showed significant positive levels (p = .00) except facility support reflecting non-significant negative level (p = .... The findings confirm a clear gap in EBPTP implementation among physiotherapists in Jordan. The EBPTP implementation factors were mainly based on education sectors and work facilities. Engagement of st...

Evidence-based practice models and frameworks in the healthcare setting: a scoping review.

The aim of this scoping review was to identify and review current evidence-based practice (EBP) models and frameworks. Specifically, how EBP models and frameworks used in healthcare settings align wit... A Scoping review.... Published articles were identified through searches within electronic databases (MEDLINE, EMBASE, Scopus) from January 1990 to April 2022. The English language EBP models and frameworks included in th... Of the 20 097 articles found by our search, 19 models and frameworks met our inclusion criteria. The results showed a diverse collection of models and frameworks. Many models and frameworks were well ... Many EBP models and frameworks currently exist that provide diverse instructions on the best way to use EBP. However, the inclusion of patient values and preferences needs to be better integrated into...

Neurocheck Frequency: Determining Perceptions and Barriers to Implementation of Evidence-Based Practice.

Following acute brain injury, patients in the intensive care unit often undergo hourly or every-other-hour exams ("neurochecks") to monitor for neurodeterioration. We assessed health care provider att... This was a cross-sectional, online survey distributed in Spring 2021 at a tertiary care academic medical center. Providers from multiple intensive care unit and neuroscience clinical specialties inclu... Among 177 participants, 61 (34%) and 116 (66%) were self-identified as ordering and performing providers, respectively. The survey response rate was 58% among physicians and 51% among bedside nurses w... This survey revealed clinically relevant differences in ordering versus performing provider attitudes about frequent neurochecks. Providers preferred every-other-hour rather than hourly neurochecks....