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Differential methylation in rare ophthalmic disorders: a systematic review protocol.

ABSTRACT: BACKGROUND:Rare ophthalmic conditions often cause degenerative vision loss which leads to loss of independence, ability to work and ultimately quality life. Differential methylation is an epigenomic marker that is a feature of several diseases, including eye conditions. This review will aim to elucidate the extent to which differential methylation has been identified in rare ophthalmic conditions. METHODS:A systematic review will be conducted of articles found in the electronic databases MEDLINE, EMBASE, PubMed and Cochrane Library of Systematic Reviews. Grey literature databases GreyLit and OpenGrey will be searched for relevant unpublished sources. Reference lists of articles which meet eligibility criteria will also be screened for forward and reverse citations. Eligibility criteria will include quantitative articles published, before July 2018, written in English and featuring analysis of differential methylation in rare ophthalmic disorders. Studies will be screened firstly by title, abstract and keywords and then by full text for any remaining sources, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Data extraction of key characteristics will be completed using customised forms. Methodological rigour will be assessed using customised forms modelled on the Joanna Briggs Institute critical appraisal forms. DISCUSSION:This systematic review will enable us to identify if differential methylation can be used to characterise rare ophthalmic disease, which could have crucial implications for improving the accuracy and speed of diagnosis, identifying novel therapeutic targets to reduce or prevent vision loss and overall improving understanding of rare ophthalmic disease. SYSTEMATIC REVIEW REGISTRATION:PROSPERO CRD42018094231.

SUBMITTER: Kerr K

PROVIDER: S-EPMC6456967 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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Differential methylation in rare ophthalmic disorders: a systematic review protocol.

Kerr Katie K McAneney Helen H McKnight Amy Jayne AJ

Systematic reviews 20190410 1

<h4>Background</h4>Rare ophthalmic conditions often cause degenerative vision loss which leads to loss of independence, ability to work and ultimately quality life. Differential methylation is an epigenomic marker that is a feature of several diseases, including eye conditions. This review will aim to elucidate the extent to which differential methylation has been identified in rare ophthalmic conditions.<h4>Methods</h4>A systematic review will be conducted of articles found in the electronic da ...[more]

PMID: 30971311

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Project description:BackgroundThough rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India.ObjectivesTo comprehensively analyze the frequency and nature of mutations in Indian patients with RBDs.MethodsPubmed search was used (www.pubmed.com) to explore the published literature from India on RBDs using the key words "rare bleeding disorders", "mutations", "India", "fibrinogen", "afibrinogenemia", "factor II deficiency", "prothrombin" "factor VII deficiency", "factor V deficiency", "factor X deficiency", "factor XI deficiency", "combined factor V and VIII deficiency", "factor XIII deficiency", "Bernard Soulier syndrome" and "Glanzmanns thrombasthenia" in different combinations. A total of 60 relevant articles could be retrieved. The distribution of mutations from India was compared with that of the world literature by referring to the Human Gene Mutation Database (HGMD) (www.hgmd.org).ResultsTaken together, 181 mutations in 270 patients with different RBDs have been reported from India. Though the types of mutations reported from India and their percentage distribution with respect to the world data are largely similar, yet much higher percentage of small deletions, duplication mutations, insertions, indels were observed in this analysis. Besides the identification of novel mutations and polymorphisms, several common mutations have also been reported, which will allow to develop a strategy for mutation screening in Indian patients with RBDs.ConclusionThere is a need for a consortium of Institutions working on the molecular pathology of RBDs in India. This will facilitate a quicker and cheaper diagnosis of RBDs besides its utility in first trimester prenatal diagnosis of the affected families.

Project description:Background: Childhood maltreatment (CM) is thought to play a key role in the etiology and course of psychotic disorders (PD). In addition, CM is related to neurobiological and clinical characteristics that can lead to poor social functioning. However, the extent to which CM and social functioning are directly associated in individuals with PD, is unclear. Therefore, we aim to systematically review the literature to provide an estimate on the strength of the association between CM and different domains of social functioning in PD and to summarize potential moderators and mediators of this association.Methods and analysis: To identify relevant studies, we will systematically search the following databases: Pubmed (Medline), PsycInfo, Embase, Web of Science (Core Collection), and Pilots (trauma), manually search reference lists and contact experts in the field. Studies will be included if they investigate and report on the association between CM (exposure) and social functioning (outcome) in adults with PD. Two independent reviewers will screen titles, abstracts and full texts according to eligibility criteria, perform data extraction and assess study quality according to a modified version of the Newcastle-Ottawa Scale.Analysis: Effect estimates will be pooled in a meta-analysis. Heterogeneity and publication bias will be assessed and the effects of potential moderators (genetic factors, type of diagnosis, duration of illness, type of CM and age at the time of CM exposure) will be analyzed using meta-regressions. Candidate moderators and mediators (neurocognition, cognitive schemas, comorbidities, stress sensitivity, attachment) will be also examined qualitatively.Ethics and dissemination: Because this review will make use of already published data, ethical approval will not be sought. This work has the potential to inform upcoming investigations on the association between the exposure to CM in PD and social functioning. PROSPERO registration number CRD42020175244.

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Differential methylation in rare ophthalmic disorders: a systematic review protocol.

Publications

Differential methylation in rare ophthalmic disorders: a systematic review protocol.

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