Titre : Sites d'épissage d'ARN

Sites d'épissage d'ARN : Questions médicales fréquentes

Termes MeSH sélectionnés :

Intestinal Failure
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"fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Sites d'épissage d'ARN", "description": "Comment identifier un site d'épissage ?\nQuels tests sont utilisés pour le diagnostic ?\nLes mutations affectent-elles le diagnostic ?\nQuels outils bioinformatiques sont utilisés ?\nComment les anomalies sont-elles détectées ?", "url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Sites d'épissage d'ARN", "description": "Quels symptômes sont liés aux défauts d'épissage ?\nLes symptômes varient-ils selon les mutations ?\nY a-t-il des symptômes spécifiques à surveiller ?\nLes symptômes apparaissent-ils tôt ?\nComment les symptômes évoluent-ils ?", "url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Intestinal+Failure&page=2#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=2#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=2#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=2#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=2#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)

ESPEN guideline on chronic intestinal failure in adults - Update 2023.

In 2016, ESPEN published the guideline for Chronic Intestinal Failure (CIF) in adults. An updated version of ESPEN guidelines on CIF due to benign disease in adults was devised in order to incorporate... The grading system of the Scottish Intercollegiate Guidelines Network (SIGN) was used to grade the literature. Recommendations were graded according to the levels of evidence available as A (strong), ... The recommendations of the 2016 guideline were reviewed, particularly focusing on definitions, and new chapters were included to devise recommendations on IF centers, chronic enterocutaneous fistulas,... It is confirmed that CIF management requires complex technologies, multidisciplinary and multiprofessional activity, and expertise to care for the underlying gastrointestinal disease and to provide HP...

Assessment of body composition in pediatric intestinal failure: A comparison study.

The objective of the study was to compare bioelectrical impedance analysis (BIA) and skinfolds with dual energy x-ray absorptiometry (DXA) in the assessment of body composition of children with intest... Children aged 1-18 years with intestinal failure whohave DXA as part of routine clinical monitoring were eligible. BIA measured total body water on the same day as DXA. Skinfold measurements were take... Sixty-eight children with intestinal failure, mean age 8.9 ± 4.2 years, were studied. There was no difference between %FFM and %FM obtained by DXA and BIA (P = 0.26), with a mean bias (95% CI) of -0.6... BIA is an acceptable clinical tool for assessing body composition in pediatric intestinal failure....

Development of a core outcome set for pediatric chronic intestinal failure.

In research on pediatric chronic intestinal failure, heterogeneity in reported definitions and outcomes exists. This leads to a risk of reporting bias and impossibility of evidence synthesis. Also, re... Candidate outcomes were selected from a recent systematic review. A three-round Delphi study among key stakeholders and a consensus meeting with an expert panel were undertaken to achieve consensus on... Seventy-two stakeholders (79%) completed all three rounds of the Delphi process. Ninety-eight outcomes were assessed, and five new outcomes were added after the first round. Ten outcomes were included... This pediatric chronic intestinal failure COS consists of 10 outcomes important for all key stakeholders. Usage of this set in future research should minimize outcome heterogeneity and enhance the val...

Characteristics of adult intestinal failure centers: An international multicenter survey.

Current guidelines recommend that patients with chronic intestinal failure (CIF) should be managed by a multidisciplinary team (MDT). However, the characteristics of real-world IF centers and the pati... This is an international multicenter study of adult IF centers using a survey. The questionnaire survey included questions regarding program and patient characteristics. Thirty-three investigational c... The survey center response rate was 91%. The median number of patients with CIF per center was 128 (range, 30-380). The most common disciplines reported were gastroenterologist (93%), dietitian (90%),... The majority of centers were managing around 100 patients with CIF. Despite the widespread use of the MDT, there are some variances in team characteristics. Gastroenterologists were the most common ph...

High Rate of Venous Thromboembolism in Severe Pediatric Intestinal Failure.

To quantify the rate of venous thromboembolism (VTE) in patients with pediatric intestinal failure and identify associated risk factors.... We performed a retrospective cohort study in pediatric patients (<21 years old) with severe pediatric intestinal failure (≥90 consecutive days of parenteral nutrition) secondary to short bowel syndrom... A total of 263 patients (59.7% male) met the criteria for inclusion. The cumulative incidence of VTE was 28.1%, with a rate of 0.32 VTEs per 1000 catheter-days. On univariate analysis, the number of c... In this retrospective study, 28.1% of patients with severe pediatric intestinal failure developed VTE; the number of catheters and early gestational age were noted to be independent risk factors for V...

Pitfalls of iron supplementation in parenteral nutrition admixtures for children with intestinal failure.

Pediatric patients with intestinal failure are at increased risk for iron deficiency. Supplementation is not routinely included in parenteral nutrition solutions. There is currently limited research r... We review a patient case and the current available literature related to iron in parenteral nutrition.... Five major concerns are identified: peroxidation reactions, incompatibility, hypersensitivity, infection risk, and iron overload.... We propose an argument against the preferential use of iron supplementation within parenteral nutrition in children with intestinal failure when enteral supplementation or intermittent parenteral infu...

Chronic Mucosal Inflammation in Pediatric Intestinal Failure Patients-A Unique Phenomenon.

As intestinal failure (IF) management improves and long-term survival rate increases, its physiological complications have become more apparent. The development of chronic intestinal inflammation rese... This retrospective study was based on the electronic medical records of pediatric patients seen at the Cincinnati Children's Hospital Medical Center between January 2000 and July 2022. Demographic and... During the follow-up period, 23 children were diagnosed with chronic intestinal inflammation. Of these, 12 (52%) were males, with a median age of 4.5 (3-7) years at diagnosis. Nearly one-third of the ... SBS patients are at risk of relatively early onset chronic intestinal inflammation. The absence of an ICV (and adjoin ileum) and prior lengthening procedures emerge as factors associated with the risk...

Nutritional Management of Intestinal Failure due to Short Bowel Syndrome in Children.

The most common cause of intestinal failure (IF) in childhood remains short bowel syndrome (SBS), where bowel mass is significantly reduced due to a congenital atresia or resection and parenteral nutr... A literature search was performed from 1992 to 2022 using Pubmed, MEDLINE and Cochrane Database of Systematic Reviews, and recent guidelines were reviewed. In the absence of evidence, recommendations ... Consensus on the best possible way of feeding children with IF-SBS is lacking and practice varies widely between centres. Feeding should commence as soon as possible following surgery. Oral feeding is... To date, uniform agreement on the optimal type of feed, timing of food introduction and feeding regime used is lacking and great difference in practice remains. There is need for more research to esta...

Overview of Physical, Neurocognitive, and Psychosocial Outcomes in Pediatric Intestinal Failure and Transplantation.

Intestinal failure and transplantation may significantly impact physical, neurocognitive, and psychosocial development in pediatric patients. Currently, there is a paucity of literature on the effects... Psychological disorders, neurodevelopmental delay, and social maladaptation are frequently encountered in this patient population. While the main focus is often on medical management, equal emphasis s...