Logo do repositório
 
Publicação

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

2018Capítulo de livro Acesso aberto
Ver registo simples
dc.contributor.authorMarques-da-Silva, Dorinda
dc.contributor.authorFrancisco, R.
dc.contributor.authorFerreira, V. dos Reis
dc.contributor.authorForbat, L.
dc.contributor.authorLagoa, Ricardo
dc.contributor.authorVideira, P. A.
dc.contributor.authorWitters, P.
dc.contributor.authorJaeken, J.
dc.contributor.authorCassiman, D.
dc.date.accessioned2026-07-23T11:42:40Z
dc.date.available2026-07-23T11:42:40Z
dc.date.issued2018
dc.description.abstractCongenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono-to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding the prevalence of liver disease and the occurrence of liver symptoms in CDG patients. The network of patient advocacy groups, families and professionals (CDG & Allies – PPAIN) developed the LeQCDG by adapting validated published questionnaires. The LeQCDG was approved by an ethics committee, and the recruitment of patients and caregivers proceeded through social media platforms. Participants were asked to report past or present liver-related symptoms (e.g. hepatomegaly, liver fibrosis and cirrhosis) and laboratory results (e.g. biochemical and/ or radiological). From 11 December 2016 to 22 January 2017, 155 questionnaires were completed. Liver disease was present in 29.9% of CDG patients. Main symptoms reported included hepatomegaly, increased levels of serum transaminases, fibrosis, steatosis and cirrhosis. The data obtained in this online survey confirm findings from a recent literature review of 25 years of published evidence (r ¼ 0.927, P ¼ 0.02). Our questionnaire collected large amounts of meaningful, clinical and patient-oriented data in a short period of time without geographic limitations. Internet-based approaches are especially relevant in the context of ultra-rare diseases such as CDG.eng
dc.identifier.citationMarques-da-Silva D., Francisco R., dos Reis Ferreira V., Forbat L., Lagoa R., Videira P.A., Witters P., Jaeken J., Cassiman D., An electronic questionnaire for liver assessment in congenital disorders of glycosylation (LeQCDG): A patient-centered study (2019) JIMD Reports, 44, pp. 55 - 64. DOI: 10.1007/8904_2018_121
dc.identifier.doi10.1007/8904_2018_121
dc.identifier.isbn9783662586167
dc.identifier.isbn9783662586174
dc.identifier.issn2192-8304
dc.identifier.issn2192-8312
dc.identifier.urihttp://hdl.handle.net/10400.8/16661
dc.language.isoeng
dc.peerreviewedyes
dc.publisherSpringer Berlin Heidelberg
dc.relation.hasversionhttps://link.springer.com/chapter/10.1007/8904_2018_121
dc.relation.ispartofJIMD Reports
dc.relation.ispartofJIMD Reports, Volume 44
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectcaregiver
dc.subjectcongenital disorder of glycosylation
dc.subjectdisease severity
dc.subjectelectronic questionnaire
dc.subjectfemale
dc.subjecthealth care personnel
dc.subjectHepatitis quality of life questionnaire
dc.subjecthepatologist
dc.subjecthepatomegaly
dc.subjecthuman
dc.subjecthypertransaminasemia
dc.subjectliver cirrhosis
dc.subjectliver disease
dc.subjectLiver disease quality of life questionnaire
dc.subjectliver fibrosis
dc.subjectliver function
dc.subjectliver polycystic disease
dc.subjectliver transplantation
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectphenotype
dc.subjectphysician
dc.subjectprevalence
dc.subjectquality of life
dc.subjectquestionnaire
dc.titleAn Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Studyeng
dc.typebook part
dspace.entity.typePublication
oaire.citation.endPage64
oaire.citation.startPage55
oaire.citation.titleJIMD Reports
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameLagoa
person.givenNameRicardo
person.identifier124357
person.identifier.ciencia-id5C18-A29A-44AB
person.identifier.orcid0000-0003-2375-6612
person.identifier.scopus-author-id23051352300
relation.isAuthorOfPublication8a139213-9a89-4bd3-93ee-1e332519f96b
relation.isAuthorOfPublication.latestForDiscovery8a139213-9a89-4bd3-93ee-1e332519f96b

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura
Nome:
410.pdf
Tamanho:
647.49 KB
Formato:
Adobe Portable Document Format
Ver/Abrir
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
1.32 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

ESTG - Capítulos de livros