Consensus clinical management guidelines for Alstrom syndrome

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dc.authorid0000-0002-7024-1657en_US
dc.authorid0000-0001-9589-4091
dc.contributor.authorTahani, Natascia
dc.contributor.authorMaffei, Pietro
dc.contributor.authorDollfus, Helene
dc.contributor.authorPaisey, Richard
dc.contributor.authorValverde, Diana
dc.contributor.authorMilan, Gabriella
dc.contributor.authorHan, Joan C.
dc.contributor.authorDüzenli, Selma
dc.date.accessioned2021-06-23T19:53:55Z
dc.date.available2021-06-23T19:53:55Z
dc.date.issued2020
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractAlstrom Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in theALMS1gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life. These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations. These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.en_US
dc.identifier.doi10.1186/s13023-020-01468-8
dc.identifier.issn1750-1172
dc.identifier.issue1en_US
dc.identifier.pmid32958032en_US
dc.identifier.scopus2-s2.0-85091473795en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1186/s13023-020-01468-8
dc.identifier.urihttps://hdl.handle.net/20.500.12491/10331
dc.identifier.volume15en_US
dc.identifier.wosWOS:000574295000002en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDüzenli, Selma
dc.language.isoenen_US
dc.publisherBmcen_US
dc.relation.ispartofOrphanet Journal Of Rare Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAlstrom syndromeen_US
dc.subjectGuidelinesen_US
dc.subjectRare Diseaseen_US
dc.subjectBlindnessen_US
dc.subjectDeafnessen_US
dc.subjectCardiomyopathyen_US
dc.subjectInsulin Resistanceen_US
dc.subjectObesityen_US
dc.subjectNon-alcoholic Fatty Liver Diseaseen_US
dc.titleConsensus clinical management guidelines for Alstrom syndromeen_US
dc.typeArticleen_US

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