{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,8]],"date-time":"2025-02-08T05:33:07Z","timestamp":1738992787595,"version":"3.37.0"},"reference-count":30,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The issue of a possible association between Shwachman-Diamond Syndrome and\n                    diabetes has been debated for many years. This review updates the Italian\n                    Shwachman-Diamond registry, confirming our previous findings that suggest that\n                    these patients might be at higher risk of developing diabetes, particularly type\n                    1. These data are of relevance in the clinical follow-up of patients in everyday\n                    life, emphasizing the need for early diagnosis and timely intervention. <\/jats:p>","DOI":"10.1055\/a-2460-6977","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T23:45:47Z","timestamp":1736984747000},"page":"78-82","source":"Crossref","is-referenced-by-count":0,"title":["Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian\n                    Registry and Review of the Literature"],"prefix":"10.1055","volume":"133","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0066-5195","authenticated-orcid":false,"given":"Antonella","family":"Minelli","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia,\n                    Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Pintani","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata,\n                    Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Valli","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, Varese,\n                    Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Tridello","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata,\n                    Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Porta","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, Varese,\n                    Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Fioredda","sequence":"additional","affiliation":[{"name":"Unit of Hematology, IRCCS G. Gaslini Hospital, Genoa,\n                    Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata,\n                    Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia,\n                    Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,1,15]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1002\/pbc.24260","article-title":"Incidence of Shwachman-Diamond syndrome","volume":"59","author":"A Minelli","year":"2012","journal-title":"Pediatric Blood Cancer"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s13039-021-00575-w","article-title":"The frequent and clinically benign anomalies of chromosomes 7 and 20 in\n                    Shwachman-Diamond syndrome may be subject to further clonal variations","volume":"14","author":"A W Khan","year":"2021","journal-title":"Mol Cytogenet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1038\/s41390-022-02009-8","article-title":"Shwachman Diamond syndrome: Narrow genotypic spectrum and variable clinical\n                    features","volume":"92","author":"A S Thompson","year":"2022","journal-title":"Pediatr Res"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.hoc.2009.01.007","article-title":"Shwachman-Diamond syndrome: a review of the clinical presentation, molecular\n                    pathogenesis, diagnosis, and treatment","volume":"23","author":"L Burroughs","year":"2009","journal-title":"Hematol Oncol Clin North Am"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"G R Boocock","year":"2003","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.bcmd.2016.06.007","article-title":"Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond\n                    patients","volume":"60","author":"A Minelli","year":"2016","journal-title":"Blood Cells Mol Dis"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1182\/blood-2016-08-735431","article-title":"Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome","volume":"129","author":"S Dhanraj","year":"2017","journal-title":"Blood"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmedgenet-2016-104366","article-title":"Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia,\n                    exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond\n                    like syndrome","volume":"54","author":"P Stepensky","year":"2017","journal-title":"J Med Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"4090","DOI":"10.1172\/JCI92876","article-title":"Mutations in signal recognition particle SRP54 cause syndromic neutropenia with\n                    Shwachman-Diamond-like features","volume":"127","author":"R Carapito","year":"2017","journal-title":"J Clin Invest"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1055\/s-0031-1275699","article-title":"Shwachman-Diamond syndrome and type 1 diabetes mellitus: More than a chance\n                    association?","volume":"119","author":"S Gana","year":"2011","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"ref11","first-page":"547","article-title":"The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal\n                    dysostosis and dwarfism","volume":"24","author":"D H Shmerling","year":"1969","journal-title":"Helv Paediatr Acta"},{"key":"ref12","first-page":"46","article-title":"Some clinical observations on the Shwachman syndrome pancreatic insufficiency\n                    and bone marrow hypoplasia","volume":"8","author":"H Shwachman","year":"1972","journal-title":"Birth Defects"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1136\/adc.55.5.331","article-title":"Shwachman\u02bcs syndrome. 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ISPAD Clinical\n                    Practice Consensus Guidelines 2014. Management of cystic fibrosis-related\n                    diabetes in children and adolescents","volume":"15","author":"A Moran","year":"2014","journal-title":"Pediatr Diabetes"},{"volume-title":"Prevalence and Incidence of Type 1 Diabetes Among Children and Adults in the\n                    United States and Comparison with Non-U.S. Countries. In: Cowie CC, Casagrande\n                    SS, Menke A, et al., ed. 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