Titre : Annotation de séquence moléculaire

Annotation de séquence moléculaire : Questions médicales fréquentes

Termes MeSH sélectionnés :

Retinal Detachment
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grâce à l'annotation ?\nComment l'annotation aide-t-elle à gérer les complications ?\nLes complications varient-elles selon les individus ?", "url": "https://questionsmedicales.fr/mesh/D058977?mesh_terms=Retinal+Detachment&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Annotation de séquence moléculaire", "description": "Quels facteurs de risque sont identifiés par l'annotation ?\nL'annotation peut-elle identifier des facteurs de risque environnementaux ?\nLes facteurs de risque sont-ils modifiables ?\nComment l'annotation aide-t-elle à évaluer les facteurs de risque ?\nLes facteurs de risque sont-ils les mêmes pour tous ?", "url": "https://questionsmedicales.fr/mesh/D058977?mesh_terms=Retinal+Detachment&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment l'annotation aide-t-elle au diagnostic ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Elle permet d'identifier des gènes ou des mutations associés à des maladies." } }, { "@type": "Question", "name": "Quels outils sont utilisés pour l'annotation ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des logiciels comme BLAST et GeneMark sont couramment utilisés." } }, { "@type": "Question", "name": "L'annotation peut-elle prédire des maladies ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut aider à prédire des risques génétiques pour certaines maladies." } }, { "@type": "Question", "name": "Quels types de séquences sont annotés ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Les séquences d'ADN, d'ARN et de protéines sont couramment annotées." } }, { "@type": "Question", "name": "L'annotation est-elle standardisée ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Il existe des standards comme GFF et BED pour uniformiser l'annotation." } }, { "@type": "Question", "name": "Quels symptômes peuvent être liés à des mutations génétiques ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Des symptômes variés comme des malformations, des troubles métaboliques peuvent apparaître." } }, { "@type": "Question", "name": "Comment l'annotation aide-t-elle à comprendre les symptômes ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Elle relie les mutations à des phénotypes spécifiques, facilitant la compréhension." } }, { "@type": "Question", "name": "Les symptômes sont-ils toujours présents avec des mutations ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Non, certaines mutations peuvent être silencieuses et ne pas provoquer de symptômes." } }, { "@type": "Question", "name": "Peut-on prédire des symptômes grâce à l'annotation ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'annotation peut aider à anticiper des symptômes basés sur des mutations connues." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon les individus ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent varier en fonction de l'environnement et de la génétique." } }, { "@type": "Question", "name": "Comment l'annotation aide-t-elle à la prévention ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Elle permet d'identifier les individus à risque et de mettre en place des mesures préventives." } }, { "@type": "Question", "name": "Peut-on prévenir des maladies grâce à l'annotation ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, en surveillant les individus porteurs de mutations à risque." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour l'annotation préventive ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques comme le séquençage de nouvelle génération sont utilisés." } }, { "@type": "Question", "name": "L'éducation génétique est-elle importante pour la prévention ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle sensibilise les individus aux risques et aux mesures préventives." } }, { "@type": "Question", "name": "Les programmes de dépistage sont-ils basés sur l'annotation ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils sont souvent conçus en fonction des données d'annotation disponibles." } }, { "@type": "Question", "name": "L'annotation influence-t-elle les traitements ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle permet de personnaliser les traitements en fonction des mutations spécifiques." } }, { "@type": "Question", "name": "Quels traitements sont basés sur l'annotation ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Des traitements comme les thérapies géniques et les médicaments ciblés en dépendent." } }, { "@type": "Question", "name": "Comment l'annotation aide-t-elle à choisir un traitement ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Elle identifie les cibles moléculaires pour des traitements plus efficaces." } }, { "@type": "Question", "name": "Les traitements sont-ils standardisés selon l'annotation ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Non, les traitements peuvent varier selon les spécificités de chaque cas." } }, { "@type": "Question", "name": "L'annotation peut-elle aider à éviter des effets secondaires ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, en choisissant des traitements adaptés aux profils génétiques des patients." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir sans annotation ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des traitements inappropriés et des diagnostics erronés peuvent survenir." } }, { "@type": "Question", "name": "L'annotation peut-elle réduire les complications ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, en permettant des traitements plus ciblés et adaptés aux patients." } }, { "@type": "Question", "name": "Les complications sont-elles prévisibles grâce à l'annotation ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être anticipées en fonction des mutations identifiées." } }, { "@type": "Question", "name": "Comment l'annotation aide-t-elle à gérer les complications ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Elle fournit des informations sur les risques et les options de traitement appropriées." } }, { "@type": "Question", "name": "Les complications varient-elles selon les individus ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles peuvent varier en fonction de la génétique et de l'environnement." } }, { "@type": "Question", "name": "Quels facteurs de risque sont identifiés par l'annotation ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Des mutations génétiques, des antécédents familiaux et des facteurs environnementaux." } }, { "@type": "Question", "name": "L'annotation peut-elle identifier des facteurs de risque environnementaux ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut relier des mutations à des expositions environnementales spécifiques." } }, { "@type": "Question", "name": "Les facteurs de risque sont-ils modifiables ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certains, comme le mode de vie, peuvent être modifiés pour réduire les risques." } }, { "@type": "Question", "name": "Comment l'annotation aide-t-elle à évaluer les facteurs de risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Elle permet d'analyser les données génétiques et cliniques pour une évaluation précise." } }, { "@type": "Question", "name": "Les facteurs de risque sont-ils les mêmes pour tous ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Non, ils varient selon les individus et les populations en fonction de la génétique." } } ] } ] }

Sources (6604 au total)

Outcomes of chronic macula-off retinal detachment repair.

There have been disparate outcomes in the few studies that have looked at anatomic success and visual acuity (VA) in chronic retinal rhegmatogenous detachment (RRD) repair. Chronic retinal detachments... After obtaining Institutional Review Board (IRB) approval, patients who had undergone surgical intervention for all diagnosis codes of RD were identified in the Denver Health Medical Center database. ... The average patient age was 53.8 years. The length of RRD duration ranged from 30 to 365 days (mean 136.7 days). Twenty-six (70.3% patients had proliferative vitreoretinopathy (PVR) grade C or greater... Chronic macula-off RD with a PVD should be identified as it is associated with much lower rates of initial re-attachment. Socioeconomic factors likely are the driving factor for patients with PVD-type...

Lincoff's Rule Is Not Followed in Pediatric Rhegmatogenous Retinal Detachments.

To validate Lincoff's rules (LRs) in cases of rhegmatogenous retinal detachment (RRD) in the pediatric age group and to identify factors in cases LR was not followed.... This was a retrospective study where 98 pediatric patients with RRD were identified through surgery records. Forty case sheets with complete record of ocular examination and surgical findings were ana... The median age of the study participants was 11 years ranging from 5 to 18 years. There were 35 (88%) boys and 5 (12%) girls in the study. Myopia was noted in 13 (33%) eyes and in 21 (53%) eyes, there... LRs fail to accurately identify the exact location of the retinal break due to its posterior location and absence of posterior vitreous detachment in most cases with pediatric RRDs....

Retinal Detachments Associated With Topical Pilocarpine Use for Presbyopia.

To present a case series of retinal detachments associated with the use of pilocarpine for presbyopia.... Multicenter case series of 3 eyes from 2 patients.... Patient 1, a 47-year-old man, presented with flashes and floaters in both eyes. The patient had started pilocarpine 1.25% drops 1 month prior for presbyopia in both eyes. He noted the onset of flashes... Pilocarpine and other miotics have long been suspected to be associated with an increased risk of retinal detachment. Prior to prescribing pilocarpine for presbyopia, physicians should inform patients...

Neovascular Glaucoma Associated with Chronic Rhegmatogenous Retinal Detachment.

To demonstrate the clinical features and natural course of chronic retinal detachment-associated neovascular glaucoma.... Ten patients, diagnosed with chronic retinal detachment-associated neovascular glaucoma during 2007-2016 were retrospectively investigated. Besides chronic retinal detachment, no patients had any neov... The mean age of patients was 57.5 years (range, 22-78 years). Complete retinal reattachment was achieved in three eyes, while partial or total chronic retinal detachment persisted in seven eyes. Wide-... In eyes with a chronic retinal detachment history, iris neovascularization and neovascular glaucoma can develop due to retinal capillary obstruction and chronic retinal ischemia, even after achieving ...

Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment in Elderly Patients.

To assess clinical outcomes in elderly patients aged ≥ 75 years who underwent pneumatic retinopexy (PnR) for primary rhegmatogenous retinal detachment (RRD).... Retrospective cohort study.... Patients aged ≥ 75 years with primary RRD undergoing PnR.... This study evaluates clinical outcomes among eligible patients who presented from October 1, 2010, to December 31, 2022, with a minimum of 3 months' follow-up. There were no limitations with respect t... Pneumatic retinopexy primary anatomic reattachment rate and postoperative best corrected visual acuity (BCVA) at 3 months.... Eighty patients with a mean age of 80.6 ± 4.6 years were included in this study; 35% (28/80) were phakic and 34% (27/80) presented with a fovea-on RRD. The mean number of breaks in the detached retina... Elderly patients treated with PnR for primary RRD had relatively comparable primary anatomic reattachment rates with other surgical techniques such as pars plana vitrectomy and scleral buckle. Pneumat... The authors have no proprietary or commercial interest in any materials discussed in this article....

Retinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences.

Stickler syndrome is the most common inherited cause of pediatric rhegmatogenous retinal detachment. The purpose of this study was to survey pediatric retinal surgeon preferences for prophylactic trea... A voluntary, anonymous 27-question survey was developed by RedCap and distributed to the Association of Pediatric Retinal Surgeons. The survey was distributed on March 17, 2021. Results were tabulated... Thirty-four (76% response rate) respondents completed the survey. Twenty-six (76%) reported primarily using prophylactic laser retinopexy, four (12%) preferred use of cryotherapy, and 12% reported usi... The majority of the United States. and international pediatric retinal surgeons use laser retinopexy as the primary method of prophylactic treatment. These results may serve as a benchmark for retinal...