questionsmedicales.fr
Disciplines des sciences naturelles
Disciplines des sciences biologiques
Biologie
Génétique
Génétique : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Maladies génétiques
Tests génétiques
Séquençage de l'ADN
Analyse chromosomique
Antécédents familiaux
Symptômes
Fiabilité des tests
Conditions génétiques
Amniocentèse
Diagnostic prénatal
Symptômes
5
Anomalies physiques
Troubles du développement
Symptômes tardifs
Maladies génétiques
Évolution des symptômes
Maladies héréditaires
Variabilité des symptômes
Mutations génétiques
Prévention
Interventions précoces
Prévention
5
Conseil génétique
Prévention des maladies
Dépistage prénatal
Anomalies génétiques
Mode de vie
Facteurs environnementaux
Vaccinations
Prévention des infections
Conseil génétique
Antécédents familiaux
Traitements
5
Thérapie génique
Gestion des symptômes
Efficacité de la thérapie
Maladies génétiques
Accès aux soins
Systèmes de santé
Guérison
Maladies incurables
Traitements expérimentaux
Essais cliniques
Complications
5
Traitement précoce
Gestion des complications
Qualité de vie
Limitations fonctionnelles
Variabilité des complications
Réponse au traitement
Aggravation des complications
Gestion des maladies
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Âge parental
Anomalies génétiques
Facteurs environnementaux
Toxines
Hérédité
Transmission génétique
Modification des facteurs de risque
Mode de vie
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"@type": "Question",
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"name": "Le conseil génétique est-il recommandé ?",
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"name": "Les traitements sont-ils accessibles à tous ?",
"position": 18,
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"text": "Certaines maladies peuvent être traitées efficacement, mais beaucoup ne peuvent pas être guéries."
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"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
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"text": "Oui, de nombreux traitements expérimentaux sont en cours d'essai pour diverses maladies génétiques."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec les maladies génétiques ?",
"position": 21,
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"text": "Les complications peuvent inclure des problèmes de santé chroniques, des handicaps et des troubles mentaux."
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{
"@type": "Question",
"name": "L'âge des parents influence-t-il les maladies génétiques ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un âge avancé des parents, surtout de la mère, augmente le risque de certaines anomalies génétiques."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des expositions à des toxines ou à des radiations peuvent augmenter le risque de maladies génétiques."
}
},
{
"@type": "Question",
"name": "Les maladies génétiques sont-elles héréditaires ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, beaucoup de maladies génétiques sont héréditaires et se transmettent de génération en génération."
}
},
{
"@type": "Question",
"name": "Peut-on modifier les facteurs de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains facteurs de risque, comme le mode de vie, peuvent être modifiés pour réduire le risque."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 29/04/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
ICMR-Regional Medical Research Center, Dibrugarh 786010, Assam, India.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Biotechnology and Microbiology, National College, Tiruchirapalli 620001, Tamil Nadu, India.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Biotechnology and Microbiology, National College, Tiruchirapalli 620001, Tamil Nadu, India.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Life Sciences, Dibrugarh University, Dibrugarh 786004, Assam, India.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynecology, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, WI 53706, USA.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynecology, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, WI 53706, USA.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynecology, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, WI 53706, USA.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynecology, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, WI 53706, USA.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Hospital Universitario Ramón y Cajal, Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Hospital Universitario Ramón y Cajal, Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España.
Publications dans "Génétique" :
2 publications dans cette catégorie
Affiliations :
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España. Electronic address: mcorton@fjd.es.
Publications dans "Génétique" :
1 publication dans cette catégorie
Affiliations :
Research Center for Parasites & Vectors, College of Veterinary Medicine Hunan Agricultural University Changsha Hunan Province China.
Publications dans "Génétique" :
1 publication dans cette catégorie
Affiliations :
College of Bioscience and Biotechnology Hunan Agricultural University Changsha Hunan Province China.
Publications dans "Génétique" :
1 publication dans cette catégorie
Affiliations :
Research Center for Parasites & Vectors, College of Veterinary Medicine Hunan Agricultural University Changsha Hunan Province China.
Publications dans "Génétique" :
1 publication dans cette catégorie
Affiliations :
Research Center for Parasites & Vectors, College of Veterinary Medicine Hunan Agricultural University Changsha Hunan Province China.
Publications dans "Génétique" :
The development of competencies in dentistry is a complicated process that calls for the development of not just cognitive and psychomotor abilities but also behaviors and attitudes that change as tec...
Retrospective assessment data for 81 students were used in this analysis. Data included the amounts of clinical requirements completed for operative dentistry, endodontics, periodontics, and fixed pro...
Fixed prosthodontics and posterior endodontics were the least common procedures completed by dental students. Statistically significant weak correlations were found between the amounts of clinical req...
The null hypothesis was rejected since a positive correlation was found between the absolute clinical requirements completed and grades in tests of competence. However, only a weak to moderate degree ...
The extent, purpose, and model of performance assessment should be guided by our understanding of clinical competence. We have come a long way from believing that competence is generic, fixed, and tra...
Clinical advancement programs (CAPs) benefit direct care nursing staff, patients, and healthcare institutions. As standards in nursing practice and workforce evolve, changes in CAPs are necessary. In ...
Clinical competency committees (CCCs) assess residents' performance on their specialty specific milestones, however there is no 'one-size fits all' blueprint for accomplishing this. Thus, CCCs have ha...
We purposefully sampled CCCs across multiple specialties and institutions. Data from three sources were triangulated: (1) online demographic survey, (2) ethnographic observations of CCC meetings and (...
Sixteen observations were completed with 15 different CCCs at 9 institutions. Three main thematic categories that impact the operations of CCCs emerged: (1) Membership structure and members roles, (2)...
While CCCs used some known effective practices, substantial variation in structure and processes was notable across CCCs. Future work should explore the impact of this variation on educational outcome...
The acquisition of clinical competence is considered the ultimate goal of nursing education programs. This study explored the relationship between learning styles and clinical competency in undergradu...
A descriptive-correlational study was conducted in 2023 with 276 nursing students from the second to sixth semesters at Abhar School of Nursing, Zanjan University of Medical Sciences, Iran. Data were ...
The predominant learning styles among nursing students were divergent (31.2%), and the least common was convergent (18.4%). The overall clinical competency score was 77.25 ± 12.65. Also, there was a s...
The results of this study showed the association between learning styles and clinical competence in nursing students. It is recommended that educational programs identify talented students and provide...
To synthesize and analyze the literature on nursing clinical competence to assess the factors affecting nursing clinical competency....
Nursing competence affects not only patients but also nurses themselves. Competent nurses contribute to patient safety. Prioritizing clinical competency enables nurses to deliver high-quality care. Cl...
This was a systematic review....
This study utilized an extensive literature search of online databases, including SCOPUS, Web of Science and PubMed. This review followed the guidelines provided by the Effective Practice and Organiza...
This systematic review provided 20 valuable articles, with a total of 6273 participants across the 20 studies, including 18 cross-sectional studies and two descriptive-correlational studies, predomina...
Understanding and addressing these factors are crucial for enhancing nurses' clinical competence and ultimately improving patient outcomes. Further research and interventions should be directed toward...
The clinical standards of dentists are never re-assessed and the dental regulator, unlike the General Medical Council, has not introduced revalidation; therefore, the clinical standards of a dentist a...
Much of the research on nursing informatics competence has been conducted in a Western context. Thus, this study aimed to develop the Korean Nursing Informatics Competence Assessment Scale for clinica...
In real-world medical education, there is a lack of reliable predictors of future clinical competencies. Hence, we aim to identify the factors associated with clinical competencies and construct a pre...
We analyzed data from medical students who graduated from National Yang-Ming University with clerkship training and participated in the postgraduate year (PGY) interview at Taipei Veterans General Hos...
Medical school grades were associated with the performance of national OSCEs (Pearson r = 0.34, p = 0.017), but the grades of the structured PGY interviews were marginally associated with the national...
Our study suggests that interventions for students with unsatisfactory medical school grades are warranted to improve their clinical competencies....
Designing competency-based education (CBE) programmes is a priority in global nursing education for better nursing care for the population. In the Democratic Republic of the Congo (DRC), object-based ...
A qualitative descriptive approach with conventional content analysis was applied. Twenty interviews with clinical supervisors who oversaw both CBE- and OBE-trained nurses, 22 focus group discussions ...
The supervisors recognised that the CBE-trained nurses had stronger competencies in professional communication, making decisions about health problems, and engaging in professional development, but we...
The study results support the Ministry of Health's policy to expand CBE in pre-service education programmes but reveal that its slow implementation impedes full utilisation of the acquired competencie...