Titre : Sites d'épissage d'ARN

Sites d'épissage d'ARN : Questions médicales fréquentes

Termes MeSH sélectionnés :

Intestinal Failure
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"https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Sites d'épissage d'ARN", "description": "Peut-on prévenir les défauts d'épissage ?\nLe dépistage prénatal est-il utile ?\nQuels facteurs environnementaux influencent ?\nL'alimentation joue-t-elle un rôle ?\nLe suivi médical est-il important ?", "url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Sites d'épissage d'ARN", "description": "Quels traitements existent pour les défauts d'épissage ?\nLa thérapie génique est-elle efficace ?\nY a-t-il des traitements symptomatiques ?\nLes traitements sont-ils personnalisés ?\nDes essais cliniques sont-ils disponibles ?", "url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Sites d'épissage d'ARN", "description": "Quelles complications peuvent survenir ?\nLes complications sont-elles réversibles ?\nComment les complications affectent-elles la qualité de vie ?\nY a-t-il des complications à long terme ?\nLes complications varient-elles selon les individus ?", "url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Sites d'épissage d'ARN", "description": "Quels sont les facteurs de risque génétiques ?\nL'âge parental influence-t-il le risque ?\nLes infections pendant la grossesse sont-elles un risque ?\nL'exposition à des produits chimiques est-elle un facteur ?\nLe mode de vie influence-t-il le risque ?", "url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment identifier un site d'épissage ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "L'identification se fait par analyse bioinformatique et séquençage de l'ARN." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour le diagnostic ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent l'électrophorèse et le séquençage de l'ARN." } }, { "@type": "Question", "name": "Les mutations affectent-elles le diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations dans les sites d'épissage peuvent entraîner des erreurs de diagnostic." } }, { "@type": "Question", "name": "Quels outils bioinformatiques sont utilisés ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des outils comme SpliceAI et MaxEntScan aident à prédire les sites d'épissage." } }, { "@type": "Question", "name": "Comment les anomalies sont-elles détectées ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Les anomalies sont détectées par des analyses de l'ARN et des tests génétiques." } }, { "@type": "Question", "name": "Quels symptômes sont liés aux défauts d'épissage ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies congénitales." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon les mutations ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes dépendent du type de mutation et du gène affecté." } }, { "@type": "Question", "name": "Y a-t-il des symptômes spécifiques à surveiller ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Surveillez les signes de fatigue, de douleur musculaire et de troubles cognitifs." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils tôt ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certains symptômes peuvent apparaître dès la naissance, d'autres plus tard." } }, { "@type": "Question", "name": "Comment les symptômes évoluent-ils ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "L'évolution des symptômes peut être progressive ou soudaine, selon la condition." } }, { "@type": "Question", "name": "Peut-on prévenir les défauts d'épissage ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est difficile, mais le conseil génétique peut aider les familles à risque." } }, { "@type": "Question", "name": "Le dépistage prénatal est-il utile ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage prénatal peut identifier certains risques de défauts d'épissage." } }, { "@type": "Question", "name": "Quels facteurs environnementaux influencent ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs comme l'exposition à des toxines peuvent influencer les défauts d'épissage." } }, { "@type": "Question", "name": "L'alimentation joue-t-elle un rôle ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée peut réduire certains risques, mais ne prévient pas tous les défauts." } }, { "@type": "Question", "name": "Le suivi médical est-il important ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi médical régulier peut aider à détecter précocement des anomalies." } }, { "@type": "Question", "name": "Quels traitements existent pour les défauts d'épissage ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la thérapie génique et les médicaments ciblés." } }, { "@type": "Question", "name": "La thérapie génique est-elle efficace ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut être efficace pour corriger certains défauts d'épissage, mais pas tous." } }, { "@type": "Question", "name": "Y a-t-il des traitements symptomatiques ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des traitements symptomatiques peuvent aider à gérer les symptômes associés." } }, { "@type": "Question", "name": "Les traitements sont-ils personnalisés ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements peuvent être adaptés en fonction des mutations spécifiques." } }, { "@type": "Question", "name": "Des essais cliniques sont-ils disponibles ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des essais cliniques évaluent de nouvelles thérapies pour ces conditions." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques et des maladies métaboliques." } }, { "@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." } }, { "@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": { "@type": "Answer", "text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques." } }, { "@type": "Question", "name": "Les infections pendant la grossesse sont-elles un risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections peuvent affecter le développement embryonnaire et augmenter les risques." } }, { "@type": "Question", "name": "L'exposition à des produits chimiques est-elle un facteur ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à certains produits chimiques peut augmenter le risque de défauts d'épissage." } }, { "@type": "Question", "name": "Le mode de vie influence-t-il le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Un mode de vie sain peut réduire certains risques, mais ne les élimine pas complètement." } } ] } ] }

Sources (10000 au total)

Characteristics of chronic intestinal failure in the USA based on analysis of claims data.

This study investigated the prevalence, characteristics, and management of patients with chronic intestinal failure (CIF) in the United States in 2012-2020, based on parenteral support (PS) prescripti... Patients with CIF were identified from the Integrated DataVerse® claims database if they had at least two PS prescriptions within 6 months and a relevant diagnosis. Analysis included prevalence and ch... Up to 24,048 patients with CIF were identified, equivalent to 75 patients per million. CIF affected people of all ages, being more prevalent in women than in men. Many providers signed PS orders for s... Healthcare disparities for patients with CIF have likely been obscured by the lack of CIF-specific diagnostic and procedure codes, obliging providers to code for their patients under other codes. Effe...

Effects of resistance training on sarcopenia in patients with intestinal failure: A randomized controlled trial.

The potential effects of resistance training on sarcopenia in patients with intestinal failure (IF) are not fully elucidated. This study aimed to explore the efficacy of a resistance training program ... A single-center randomized controlled trial was conducted in a Chinese tertiary teaching hospital. Patients with IF exhibiting sarcopenia were randomly assigned to the exercise group or control group.... A total of 60 participants (control group 30, age 51.2 ± 12.9 years, women 43.3%; exercise group 30, age 53.9 ± 14.5 years, women 56.7%) completed the 4-week intervention trial. For the primary outcom... In this randomized clinical trial, we observed that 4 weeks of resistance training was associated with improved ASMI, physical performance, biochemical parameters (including IGF-1, prealbumin, and hem... www.chictr.org.cn, identifier: ChiCTR2100051727....

Efficacy of same venous route Hickman catheter replacement in patients with intestinal failure.

Periodical replacement of venous Hickman catheters is required for the nutritional care of patients with intestinal failure. The conventional de novo operation (DN-OP) involves inserting the catheter ... We conducted a retrospective study to compare the efficacy of Hickman catheters and the survival of venous vessels using two different operative strategies.... Overall, 181 catheters were inserted, 109 using DN-OP and 72 using SR-OP. The mean catheter duration was 11.9 ± 8.8 months in the DN-OP group and 10.5 ± 5.6 months in the SR-OP group; the infection ra... Application of SR-OP in Hickman catheter replacement significantly extended the working duration of venous access by re-using the same venous route without compromising catheter efficacy in patients w...

Body Composition and Physical Activity in Pediatric Intestinal Failure On and Off Parenteral Nutrition.

Data on the relationship between body composition (BC) and physical activity (PA) in children with intestinal failure (IF) are lacking. The objectives were to collect data on PA and BC in children wit... Cross-sectional study in children 5-18 years with IF including those receiving parenteral nutrition (PN) and those fully enterally fed. PA levels were measured using accelerometry. BC was measured by ... Fifty-eight children with IF (38 males), mean (SD) age of 10.0 (3.5) years, 20 dependent on PN were included. Patients with IF had significantly fewer steps per day ( P ≤ 0.001) compared with literatu... Children with IF, those receiving PN and those fully enterally fed, are at risk of decreased PA and altered BC. PA should be part of ongoing rehabilitation and management to optimize outcomes....

Factors Associated With Chronic Intestinal Inflammation Resembling Inflammatory Bowel Disease in Pediatric Intestinal Failure: A Matched Case-Control Study.

There is a subset of intestinal failure patients with associated chronic intestinal inflammation resembling inflammatory bowel disease. This study aimed to evaluate factors associated with chronic int... This was a single-center retrospective case-control study of children <18 years old with intestinal failure. Cases were defined by abnormal amounts of chronic intestinal inflammation on biopsies. Chil... Thirty cases were identified and matched to 60 controls. On univariate analysis, longer parenteral nutrition (PN) duration (1677 vs 834 days, P = 0.03), current PN use (33.3% vs 20.0%, P = 0.037), and... PN dependence and intestinal dysbiosis are associated with chronic intestinal inflammation in children with intestinal failure. Severity of inflammation is associated with escalation of therapy. Furth...

Motility disorders in children with intestinal failure: a national tertiary referral center experience.

Intestinal dysmotility (ID) problems are common in patients with pediatric-onset intestinal failure (IF) and short bowel syndrome (SBS), leading to significant morbidity and delays in the advancement ... Retrospective chart review of all children with IF and/or SBS who required parenteral nutrition (PN) > 6 weeks or small-intestinal resection ≥ 50%. Patients were divided into SBS and non-SBS groups. S... A total of 42 children with IF were treated in our institution during 2003-2022. In non-SBS group (n = 10), ID was the most common cause of IF (80%). SBS-group included 32 children; 18 children (56%) ... ID is the most common complication of SBS and is the most common cause of IF in non-SBS patients. ID has a high morbidity rate and various clinical manifestations. Successful treatment of these infant...

Muscle Strength, Agility, and Body Composition in Children With Intestinal Failure on Parenteral Nutrition.

With increasing number of children with intestinal failure (IF) on long-term parenteral nutrition (PN), this study assesses the impact of IF on muscle strength, speed, and agility and body composition... Cross-sectional study in children 5-18 years with IF on PN. Assessments included Bruininks-Oseretsky Test of Motor Proficiency-2 strength and agility subtest (BOT-2), and grip strength. BC data from d... Twenty-one children with IF (14 males), median age 8.33 (IQR: 6.96-11.04) years and 33 controls (20 males), 8.25 (6.67-10.79) years were included. Strength and agility ( P &lt; 0.001) and grip strengt... Children with IF are at risk of decreased muscle strength and agility, along with altered BC. Ongoing medical, nutritional, and rehabilitation intervention is vital to optimize outcomes....

Approximately 50% of acute intestinal failure (AIF) patients on short-term parenteral nutrition (PN) have intestinal failure-associated liver disease (IFALD) without effect on hospital length of stay and mortality.

Patients with intestinal failure (IF) are often dependent on PN for provision of calories and nutrients for survival. Similar to chronic intestinal failure (CIF) patients, those who have AIF are also ... The primary objective of this study was to determine the incidence of IFALD in AIF patients on short-term PN. Secondary objectives were to analyse patient and PN risk factors of IFALD, and clinical ou... This was a retrospective cross-sectional cohort study of hospitalised adult patients with AIF prescribed with short-term PN. All adult patients aged 21 years and above who received PN for at least 5 c... A total of 171 patients were enrolled in this study, with 77 (45%) having deranged LFTs at the end of PN therapy and categorised under the IFLAD group. The patient cohort was predominantly male (92 [5... In this study, IFALD is a common phenomenon in AIF and the incidence was found to be an estimated 50% amongst patients on short-term PN with similar clinical outcomes between the two groups....

Effects of Teduglutide on Diarrhea in Pediatric Patients with Short Bowel Syndrome-Associated Intestinal Failure.

This post-hoc analysis evaluated the effect of teduglutide treatment on diarrhea in patients with short bowel syndrome-associated intestinal failure (SBS-IF).... Data from 2 open-label, multicenter, phase 3 pediatric SBS-IF clinical trials of teduglutide (NCT01952080 and NCT02682381) were pooled where possible. The primary objective was to evaluate the change ... Overall, 101 patients were analyzed. Among the total teduglutide group (n = 87), there were significant changes from baseline to weeks 12 and 24 in mean (standard error) Bristol Stool Form Scale (BSFS... In this post-hoc analysis, short-term treatment with teduglutide was associated with improved stool consistency, as well as trends towards reductions in PN/IV requirements and advancements in enteral ...