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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{
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"name": "La thérapie génique est-elle efficace ?",
"position": 17,
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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,
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}
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"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
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"name": "Des essais cliniques sont-ils disponibles ?",
"position": 20,
"acceptedAnswer": {
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}
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"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
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"text": "Les complications incluent des troubles neurologiques et des maladies métaboliques."
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"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."
}
},
{
"@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."
}
},
{
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"name": "L'âge parental influence-t-il le risque ?",
"position": 27,
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}
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"name": "Les infections pendant la grossesse sont-elles un risque ?",
"position": 28,
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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" :
Postoperative cardio-surgical haemostatic management is centre-specific and experience-based, which leads to a variability in patient care. This study aimed to identify which postoperative haemostatic...
A retrospective case-control study in a tertiary centre. Adult, elective, primary cardiac surgical patients were selected (...
Rate of cardiac surgical reoperation was 2% in the study population. Three variables were found to be associated with cardiac reoperation: preoperative administration of fresh frozen plasma (OR 5.45, ...
No significant difference among specific types of postoperative haemostatic interventions was found between patients who needed reoperation and those who did not. Perioperative transfusion of fresh fr...
Revision surgery for OPLL is undesirable for both patients and physicians. However, the risk factors for reoperation are not clear. Thus, we sought to review the existing literature and determine the ...
Patients with renal hyperparathyroidism undergoing parathyroidectomy may experience relapse. Reoperation for persistent or recurrent disease, particularly in the neck region, is challenging and has a ...
Patients with recurrent or persistent renal hyperparathyroidism who underwent neck reoperation between January 2015 and August 2022 were investigated, focusing on operative findings, perioperative bio...
During reoperation, 35 parathyroid glands were identified and removed from the 26 enrolled patients, with one, two, and three glands retrieved from 19 (73.2%), five (19.2%), and two (7.6%) patients, r...
Neck reoperation is an effective therapeutic option in patients with recurrent or persistent renal hyperparathyroidism. A decrease in PTH level by >70% during reoperation (PTH ratio <0.3) predicts suc...
Despite the rapid adoption of transcatheter aortic valve replacement (TAVR), the frequency and clinical outcomes of reoperation after TAVR are not well-described....
Between 2011 and 2020, 1719 patients underwent a TAVR at our institution. Among these, 32 patients (2%) required a reoperation. Additionally, 16 patients who received a TAVR at another institution rec...
Primary reoperations included 37 TAVR valve explants (TAVR-explant; 77%) with surgical aortic valve replacement (SAVR), 8 mitral repairs/replacements (17%), 2 coronary artery bypass grafting procedure...
The clinical impact of post-TAVR reoperation remains substantial despite the lower frequency of unplanned aortic repair over time. The necessity of reoperations or unfavorable repeat TAVR anatomy appe...
Free tissue transfer is utilized as a reconstructive option for various anatomic defects. While it has long been performed in adults, reconstructive surgeons have used free tissue transfer to a lesser...
Pediatric patients who underwent microvascular reconstruction between 2015 and 2020 were included. Patients were identified by five microvascular reconstruction Current Procedural Terminology codes an...
The study cohort consisted of 258 patients. The average age was 10.0 ± 4.7 years and the majority of patients were male (...
In pediatric patients undergoing free tissue transfer, higher readmission and reoperation risk was associated with longer operative duration. Overall, free tissue transfer is safe in the pediatric pop...
Spinal epidural abscess is a rare but severe condition with high rates of postoperative adverse events....
The objective of the study was to identify independent prognostic factors for reoperation using two datasets: an institutional and national database....
Retrospective Review....
Database 1: Review of five medical centers from 1993 to 2016. Database 2: The National Surgical Quality Improvement Program (NSQIP) was queried between 2012 and 2016....
Thirty-day and ninety-day reoperation rate....
Two independent datasets were reviewed to identify patients with spinal epidural abscesses undergoing spinal surgery. Multivariate analyses were used to determine independent prognostic factors for re...
Overall, 642 patients underwent surgery for a spinal epidural abscess in the institutional cohort, with a 90-day unplanned reoperation rate of 19.9%. In the NSQIP database, 951 patients were identifie...
Six novel independent prognostic factors were identified for 90-day reoperation after surgery for a spinal epidural abscess. The multivariable analysis fairly predicts reoperation, indicating that the...
Microsurgical free flap surgery has revolutionized reconstructive surgery at most academic centers worldwide. However, free flap failures still occur even in the hands of the most experienced microsur...
A multicenter retrospective analysis....
This study aims to investigate reoperation of misplaced pedicle screws (MPSs) after posterior spinal fusion (PSF), focusing on neurological complications....
The management strategy for MPSs and the clinical results after reoperation are poorly defined....
Subjects were 10,754 patients (73,777 pedicle screws) who underwent PSF at 11 hospitals over 15 years. The total number of reoperations for MPS and patient clinical data were obtained from medical rec...
The rate of reoperation for screw misplacement per screw was 0.17%. A total of 69 patients (mean age, 67.4±16.5 yr) underwent reoperation because of 82 MPS. Reasons for reoperation were neurological s...
After reoperation, 70.1% of the patients achieved complete resolution of neurological symptoms. Factors associated with residual neurological symptoms included sensory and motor disturbance, medial-ca...
Unplanned reoperation is an undesirable outcome with considerable risks and an increasingly assessed quality of care metric. There are no preoperative prediction models for reoperation after an index ...
This was a retrospective analysis of the American College of Surgeons' National Surgical Quality Improvement Program adult database, 2012-2018. An unplanned reoperation was defined as any unintended o...
Of 5,777,108 patients, 162,387 (2.81%) underwent an unplanned reoperation. The SURPAS model's C-index of 0.748 was 99.20% of that for the full model (C = 0.754). Hosmer-Lemeshow plots showed good cali...
The SURPAS model accurately predicted unplanned reoperation and was internally validated. Unplanned reoperation can be integrated into the SURPAS tool to provide preoperative risk assessment of this o...
Reoperation is associated with unfavorable outcomes and increased healthcare utilization. This study seeks to investigate the incidence and factors related to reoperation in patients undergoing urgent...
The Michigan Surgical Quality Collaborative (MSQC) database was used to identify patients undergoing urgent/emergent colectomies. Outcomes and risk factors of patients who underwent reoperation within...
16,004 patients undergoing urgent/emergent colon resection were identified. Reoperation occurred in 12.4% and was associated with increased 30-day mortality (16.7% vs. 9.6%, p < .0001), median hospita...