Comment diagnostiquer un trouble d'épissage ?

Des tests génétiques et des analyses d'ARN peuvent identifier des anomalies d'épissage.

Quels examens sont utilisés pour évaluer l'épissage ?

L'électrophorèse et le séquençage d'ARN sont couramment utilisés pour l'évaluation.

Les biopsies sont-elles nécessaires pour le diagnostic ?

Oui, des biopsies peuvent être nécessaires pour analyser les tissus affectés.

Quels marqueurs biologiques sont associés aux facteurs d'épissage ?

Des niveaux anormaux de certains ARN peuvent servir de marqueurs pour ces facteurs.

Peut-on utiliser l'imagerie pour diagnostiquer des troubles d'épissage ?

L'imagerie n'est pas spécifique, mais peut aider à évaluer des complications associées.

Quels sont les symptômes d'un trouble d'épissage ?

Les symptômes varient, incluant fatigue, douleurs musculaires et anomalies neurologiques.

Les troubles d'épissage peuvent-ils causer des cancers ?

Oui, des anomalies d'épissage sont liées à divers types de cancers.

Y a-t-il des symptômes neurologiques associés ?

Des troubles neurologiques comme des convulsions peuvent survenir dans certains cas.

Les symptômes sont-ils toujours présents ?

Non, certains patients peuvent être asymptomatiques malgré des anomalies d'épissage.

Comment les symptômes évoluent-ils avec le temps ?

Les symptômes peuvent s'aggraver progressivement, nécessitant un suivi régulier.

Peut-on prévenir les troubles d'épissage ?

La prévention est difficile, mais un dépistage génétique peut aider à identifier les risques.

Quels conseils de santé peuvent aider ?

Maintenir un mode de vie sain et éviter les toxines peut réduire les risques.

Les tests prénataux sont-ils utiles ?

Oui, les tests prénataux peuvent détecter certaines anomalies génétiques liées à l'épissage.

Y a-t-il des vaccins pour prévenir ces troubles ?

Actuellement, il n'existe pas de vaccins spécifiques pour prévenir les troubles d'épissage.

Comment le conseil génétique aide-t-il ?

Le conseil génétique informe les familles sur les risques et les options de dépistage.

Quels traitements sont disponibles pour les troubles d'épissage ?

Les traitements incluent la thérapie génique et des médicaments ciblés pour corriger l'épissage.

La thérapie génique est-elle efficace ?

Elle montre des résultats prometteurs, mais son efficacité dépend du type de trouble.

Peut-on utiliser des médicaments pour traiter ces troubles ?

Oui, certains médicaments peuvent moduler l'épissage et améliorer les symptômes.

Y a-t-il des essais cliniques en cours ?

Oui, plusieurs essais cliniques explorent de nouvelles approches thérapeutiques.

Les traitements sont-ils personnalisés ?

Oui, les traitements peuvent être adaptés en fonction des mutations spécifiques du patient.

Quelles complications peuvent survenir ?

Les complications incluent des troubles neurologiques, des cancers et des maladies métaboliques.

Les complications sont-elles réversibles ?

Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes.

Comment les complications affectent-elles la qualité de vie ?

Elles peuvent gravement affecter la qualité de vie, nécessitant un soutien médical continu.

Y a-t-il des risques de complications à long terme ?

Oui, des complications à long terme peuvent survenir, nécessitant un suivi régulier.

Les complications peuvent-elles être prévenues ?

Certaines complications peuvent être évitées par un traitement précoce et un suivi.

Quels sont les facteurs de risque pour les troubles d'épissage ?

Les facteurs incluent des mutations génétiques, des antécédents familiaux et des expositions environnementales.

L'âge est-il un facteur de risque ?

Oui, certains troubles d'épissage sont plus fréquents chez les personnes âgées.

Les facteurs environnementaux influencent-ils l'épissage ?

Oui, l'exposition à des toxines peut affecter le processus d'épissage des ARN.

Les antécédents familiaux jouent-ils un rôle ?

Oui, des antécédents familiaux de maladies génétiques augmentent le risque.

Le mode de vie influence-t-il les risques ?

Un mode de vie sain peut réduire certains risques associés aux troubles d'épissage.

Facteurs d'épissage des ARN - Informations médicales vérifiées

To run or not to run? Differences in implicit attitudes towards running: An EEG study.

02 10 2023

DOI: 10.1016/j.bbr.2023.114637 PMID: 37647993

To understand the reasons for individuals do or do not exercise, we examined differences in implicit (affective and instrumental) attitudes between runners and non-runners.... In conjunction with electroencephalography (EEG) technology, 31 participants completed the affective and instrumental implicit associations test (IAT).... Behavioural results showed that runners had more positive implicit (affective and instrumental) attitudes than non-runners. EEG results further explained the underlying mechanisms for the differences,... Higher levels of neural processing efficiency were required for runners to perceive affective expectations towards running. Furthermore, ERP indicators (N1 amplitudes of incompatible tasks) can be use...

Humans Running Exercise Electroencephalography Technology +1 autres

Muscle synergies during the walk-run and run-walk transitions.

2024

DOI: 10.7717/peerj.18162 PMID: 39465151

Muscular synergies could represent the patterns of muscular activation used by the central nervous system (CNS) to simplify the production of movement. Studies in walking-running transitions described... Twenty-four trained men participated in this study. A variable speed protocol on a treadmill was developed to record the activity of 14 muscle during walking, running and relative transitions. The pro... We described four different transition strides, two for increasing speed transitions, and two for decreasing speed transitions. Four to six synergy modules were found in each condition. According to t... Transition occurred at step level, and transition strides were composed by walk-like and run-like steps. Compared with previous studies in running and walking, both transitions needed earlier activati...

Humans Male Running Walking Electromyography +5 autres

Running towards injury? A prospective investigation of factors associated with running injuries.

2023

DOI: 10.1371/journal.pone.0288814 PMID: 37590281

Given the high incidence and heavy burden of running related injuries, large-scale, prospective multifactorial investigations examining potential risk factors are warranted. This study aimed to identi... Prospective cohort study.... Two hundred and seventy-four recreational runners were recruited. Clinical measures (strength, range of motion, foot position), injury and training history (via questionnaire), impact loading (via acc... Of the 225 runners included in the final analysis 52% experienced a running related injury. Injury history in the past year, less navicular drop, and measures of running technique (knee, hip, and pelv... This study found a number of clinical and running technique factors to be associated with prospective running related injuries among recreational runners. With the exception of injury history, the fac...

Humans Prospective Studies Foot Knee Joint Logistic Models +1 autres

Complexity of Running and Its Relationship with Joint Kinematics during a Prolonged Run.

05 08 2022

DOI: 10.3390/ijerph19159656 PMID: 35955013

We investigated the effect of prolonged running on joint kinematics and its association with stride complexity between novice and elite runners. Ten elite marathoners and eleven healthy individuals to...

Ankle Joint Biomechanical Phenomena Humans Knee Joint Lower Extremity +1 autres

Effects of Highly Cushioned and Resilient Racing Shoes on Running Economy at Slower Running Speeds.

01 Feb 2023

DOI: 10.1123/ijspp.2022-0227 PMID: 36626911

The Nike Vaporfly line of running shoes improves running economy by ∼2.7% to 4.2% at running speeds of 13 to 18 km·h-1. It is unclear whether similar benefits are conferred at slower speeds. Our purpo... Sixteen runners completed 4 × 5-minute trials at both 10 and 12 km·h-1 on the same day. Each shoe was tested twice at each speed in a counterbalanced, mirrored sequence. Data are displayed as mean (SD... A 2-way repeated-measures analysis of variance showed a significant shoe × speed interaction for oxygen consumption (P = .021). At 12 km·h-1, oxygen consumption (in mL·kg-1·min-1) was lower (-1.4% [1.... From these data, it appears that the VFN2 still enhances running economy at 10 and 12 km·h-1; however, these benefits are smaller in magnitude compared with previous research at faster speeds....

Humans Shoes Biomechanical Phenomena Running Oxygen Consumption

Running to the beat: Does listening to music affect running cadence and lower extremity biomechanics?

06 2023

DOI: 10.1016/j.gaitpost.2023.04.010 PMID: 37116303

Gait retraining can be effective in altering lower extremity biomechanics and reducing risk of injury. In attempts to alter running gait, previous studies used metronomes to manipulate cadence.... The aim of this study was to determine if manipulating running cadence via music could alter lower extremity biomechanics.... Eighteen runners ran at a self-selected speed (SS) and ran to music where the beats per minute (bpm) of the songs was increased by 5% (+5%) and 10% (+10%). Kinematic and kinetic data were collected wi... There was a significant main effect for bpm on the discrete metrics. Post hoc tests showed significant differences in heartrate from SS to + 5%, + 5% to + 10%, and SS to 10%. There were no significant... In the current study, listening to music with faster bpm was not shown to increase cadence and decrease peak tibial accelerations during running....

Humans Biomechanical Phenomena Music Lower Extremity Tibia +2 autres

Effects of level running-induced fatigue on running kinematics: A systematic review and meta-analysis.

01 2023

DOI: 10.1016/j.gaitpost.2022.09.089 PMID: 36332318

Runners have a high risk of acquiring a running-related injury. Understanding the mechanisms of impact force attenuation into the body when a runner fatigues might give insight into the role of runnin... How do running kinematics change due to running-induced fatigue? And what is the influence of experience level on changes in running kinematics due to fatigue?... Three electronic databases were searched: PubMed, Web of Science, and Scopus. This resulted in 33 articles and 19 kinematic quantities being included in this review. A quality assessment was performed... Main findings included an increase in peak acceleration at the tibia and a decrease in leg stiffness after a fatiguing protocol. Additionally, level running-induced fatigue increased knee flexion at i...

Humans Biomechanical Phenomena Running Knee Muscle Fatigue +1 autres

Correlation between Cardiopulmonary Indices and Running Performance in a 14.5 km Endurance Running Event.

27 09 2022

DOI: 10.3390/ijerph191912289 PMID: 36231590

Running is a common recreational activity, and the number of long-distance-race participants is continuously growing. It is well-established that regular physical activity can prevent and manage non-c... To examine the relationships of a 14.5 km running performance with the cardiopulmonary parameters of amateur runners, a cross-sectional study design was applied. Fifteen (eleven men and four women) re... The results showed that the 14.5 km race performance time (73.8 ± 9.7 min) significantly correlated with the cardiopulmonary-exercise-testing speed-related indices at specific submaximal and maximal w... There is a better correlation of the 14.5 km running performance of recreational long-distance runners with the cardiopulmonary-exercise-testing speed-related indices at specific workloads than with t...

Cross-Sectional Studies Exercise Test Female Humans Male +4 autres

Advancements in running shoe technology and their effects on running economy and performance - a current concepts overview.

Mar 2023

DOI: 10.1080/14763141.2022.2110512 PMID: 35993160

Advancements in running shoe technology over the last 5 years have sparked controversy in athletics as linked with clear running economy and performance enhancements. Early debates mainly surrounded '...

Humans Shoes Biomechanical Phenomena Running Athletes

Predictors of changes in running and smoking identity among individuals in the Run to Quit smoking cessation program.

07 2023

DOI: 10.1016/j.psychsport.2023.102431 PMID: 37665884

Multiple health behaviour change is a viable strategy to promote health outcomes. An example is the use of running behaviour to support smoking cessation in the group-mediated Run to Quit program. On ... We analyzed data collected from 450 adult individuals (70.67% female, and 92.44% white) during the program evaluation of Run to Quit from 2016 to 2018. Participants completed assessments at week 1 (ba... Changes in running self-efficacy, running frequency, and individual attractions to the group exercise tasks were significant and meaningful predictors of change in running identity, whereas changes in... Consistent with identity theories and past research, ensuring individuals develop a sense of efficacy and enjoy group exercise tasks both represent viable strategies to enhance exercise identity. Incl...

Adult Female Humans Male Smoking Cessation +4 autres

Facteurs d'épissage des ARN : Questions médicales fréquentes

Termes MeSH sélectionnés :

Questions fréquentes et termes MeSH associés

Diagnostic 5

Symptômes 5

Prévention 5

Traitements 5

Complications 5

Facteurs de risque 5

Contenu validé par Dr Olivier Menir

Sous-catégories

Protéine PTB

Facteur d'épissage associé à PTB

Petites ribonucléoprotéines nucléaires U1

Petites ribonucléoprotéines nucléaires U2

Petites particules nucléaires ribonucléoprotéiques U5

Facteurs d'épissage riches en sérine-arginine

Facteur d'épissage U2AF

Antigène intracellulaire-1 des lymphocytes T

Auteurs principaux

Sources (2292 au total)