questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Génome
Composants de génome
Gènes
Composants de gène
Sites d'épissage d'ARN
Sites d'épissage d'ARN : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Épissage de l'ARN
Séquençage de l'ARN
Électrophorèse
Séquençage de l'ARN
Mutations génétiques
Diagnostic médical
Bioinformatique
Prédiction des sites d'épissage
Anomalies génétiques
Tests génétiques
Symptômes
5
Troubles neurologiques
Anomalies congénitales
Mutations génétiques
Symptômes cliniques
Fatigue
Troubles cognitifs
Symptômes néonatals
Développement
Évolution des symptômes
Conditions médicales
Prévention
5
Prévention
Conseil génétique
Dépistage prénatal
Risques génétiques
Facteurs environnementaux
Toxines
Alimentation
Prévention des maladies
Suivi médical
Détection précoce
Traitements
5
Thérapie génique
Médicaments ciblés
Efficacité thérapeutique
Thérapie génique
Traitements symptomatiques
Gestion des symptômes
Médecine personnalisée
Mutations génétiques
Essais cliniques
Nouvelles thérapies
Complications
5
Complications médicales
Troubles neurologiques
Réversibilité
Gestion des complications
Qualité de vie
Soutien médical
Handicaps
Complications à long terme
Variabilité individuelle
Complications médicales
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Âge parental
Mutations génétiques
Produits chimiques
Facteurs environnementaux
Mode de vie
Prévention des maladies
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}
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}
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"name": "Quels traitements existent pour les défauts d'épissage ?",
"position": 16,
"acceptedAnswer": {
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"text": "Les traitements incluent la thérapie génique et les médicaments ciblés."
}
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"name": "La thérapie génique est-elle efficace ?",
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"text": "Elle peut être efficace pour corriger certains défauts d'épissage, mais pas tous."
}
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"name": "Y a-t-il des traitements symptomatiques ?",
"position": 18,
"acceptedAnswer": {
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"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
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}
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"name": "Des essais cliniques sont-ils disponibles ?",
"position": 20,
"acceptedAnswer": {
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"text": "Oui, des essais cliniques évaluent de nouvelles thérapies pour ces conditions."
}
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"name": "Quelles complications peuvent survenir ?",
"position": 21,
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"text": "Les complications incluent des troubles neurologiques et des maladies métaboliques."
}
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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent gravement affecter la qualité de vie, nécessitant un soutien continu."
}
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{
"@type": "Question",
"name": "Y a-t-il des complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications à long terme peuvent inclure des handicaps physiques ou mentaux."
}
},
{
"@type": "Question",
"name": "Les complications varient-elles selon les individus ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent varier considérablement d'un individu à l'autre."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de défauts d'épissage."
}
},
{
"@type": "Question",
"name": "L'âge parental influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
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"text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques."
}
},
{
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"name": "Les infections pendant la grossesse sont-elles un risque ?",
"position": 28,
"acceptedAnswer": {
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"text": "Certaines infections peuvent affecter le développement embryonnaire et augmenter les risques."
}
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"position": 29,
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"name": "Le mode de vie influence-t-il le risque ?",
"position": 30,
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 09/05/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic. premysl.soucek@cktch.cz.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic. premysl.soucek@cktch.cz.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Division of Cancer RNA Research, National Cancer Center Research Institute.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; danlu125@163.com.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; gongxl@shchildren.com.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; guoxb@shchildren.com.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; chenyw@shchildren.com.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; ytzeng@stn.sh.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, 24/1400 West Beijing Road, Shanghai, --- Select One ---, China, 200040; simg1978@126.com.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
MRC Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom; email: mwilkin@mrc-lmb.cam.ac.uk, ccharent@mrc-lmb.cam.ac.uk.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
School of Computing, Newcastle University, Newcastle, United Kingdom.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Weill Cornell Medical College, New York, NY 10065, USA.
Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Mayo Clinic, Rochester, MN, USA.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Division of Cancer RNA Research, National Cancer Center Research Institute.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
Coaching can provide learners with space to reflect on their performance while ensuring well-being and encouraging professional achievement and personal satisfaction outside of traditional mentorship ...
A well-being coaching program was developed and implemented from July 2020 through June 2021 at a single university-based surgical residency program. To assess impact of the coaching program, we desig...
All 32 general surgery interns participated in aspects of the coaching program....
The end-of-program survey was completed by 19/32 (59%) interns and commitment-to-act statements were completed by 22/32 (69%). The majority (89%) of survey respondents "agreed" or "strongly agreed" th...
Our study illustrates the effectiveness of a coaching pilot program on promoting well-being practices in a university-based general surgery internship and can be a roadmap with proven efficacy and mea...
Some studies have found that clinical practice has caused great pressure and negative psychological experience to nursing students. Therefore, this study aimed to identify psychological experience at ...
A qualitative study....
In this qualitative study, one-to-one in-depth interviews and mixed data analysis strategies were conducted among internship nurses from May 2018 to February 2019....
The pressure of the initial stage was operational pressure (80.0%), intermediate stage was nurse-patient communication (50.0%), and last stage was employment pressure (70.6%). Nursing students mainly ...
Developmental trajectories of clinical skills in training physicians vary among tasks and show interindividual differences. This study examined the predictors of medical internship performance and res...
This retrospective cohort study involved 888 training physicians who completed a medical internship between 2015 and 2019. After the internship, 627 physicians applied for residency training between 2...
Medical internship performance showed a significant positive correlation with the medical school GPA (...
Performance in the interview and medical internship predicted being among the top 30% and lowest 10% of performers in the first year of residency training, respectively. Individualized educational pro...
A clinical internship is currently required by the American Board of Radiology prior to Radiology residency. The purpose of this investigation is to evaluate practicing radiologists' perspectives on t...
A five-minute online survey was distributed via email to practicing radiologist members of the American College of Radiology....
A total of 566 completed responses (11.3% response rate) were received. Most respondents agreed that their internship was essential for improving non-radiology clinical knowledge (84%) and affirming t...
The internship before Radiology residency offers some benefits but could be further optimized. There is support from practicing radiologists for a redesigned, more Radiology-specific PreRad Internship...
The transition from student to doctor is often depicted as a struggle in the literature, and previous research has focused on interventions to minimise difficulties in transitioning from undergraduate...
The data were collected through in-depth interviews with 12 senior medical interns in western Sweden. The transcribed interviews were analysed using a phenomenographic approach, which resulted in four...
The interns perceived the meaning of the internship as an opportunity to work and learn in an authentic setting (internship as in-service training) and in a protected environment (internship as a spac...
Being allowed to be learners in a protected space seemed pivotal for the interns to develop into competent, confident and independent practitioners. The medical internship studied here could be viewed...
Rural medical training along all components of the medical training continuum has been shown to enhance rural workforce outcomes. However, due to the maldistribution of the Australian medical workforc...
A descriptive case study methodology was employed to describe and evaluate the longitudinal integrated internship program. Relevant program documents such as rosters and accreditation submissions were...
Each week, interns were rostered for 1 day in the hospital's emergency department and 3 days in general surgery or general medicine, swapping disciplines after 6 months. In this way, interns completed...
Intern programs that meet the accreditation, supervision and learning requirements can be successfully delivered at rural health services through longitudinal models of medical education. As the inter...
Internships are a common way for firms to hire college-educated workers, prompting concerns about how internship hiring affects various forms of inequality in the transition from school to work. Some ...
Victoria, Australia commenced its first Rural Community Internship Training program in 2012 to support the development of rural generalist (RG) doctors. These general practitioners have additional ski...
Between October and November 2021, a retrospective 10-minute anonymous survey invitation was sent to all contactable interns (n=222) who had completed/were completing the RG internship training (2012-...
There were 59 participants (27% response rate); 81% were in postgraduate years 3-7. Respondents included 54% male, 17% rurally bonded, 39% of rural origin, 34% having had more than 3 months rural unde...
This study provides evidence from doctors up to 9 years after completing their RG internship. Compared with industry benchmarks, the RG internships attract rurally intentioned and rurally experienced ...
Despite the critical role of empathy in medical students, various studies have provided conflicting evidence regarding changes in empathy during medical study. The present study was designed to invest...
A study was conducted at the Afzalipour School of Medicine, Kerman University of Medical Sciences. All medical students at the beginning of their internship were entered the study as a cohort and aske...
A total of 108 interns participated with a mean age of 23.85 ± 1.47 years, and a female majority (61.1%). The mean score of standing in the patient's shoe increased significantly (P < 0.001) during th...
our results revealed that the level of cognitive empathy in the current study was higher than that in previous studies. The changes were consistent with some studies and contradictory to others. Consi...
For a nursing student, an internship in a private practice enriches the discovery of nursing practice, so different is it from in-hospital practice. Having completed an internship in a private practic...