{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:19Z","timestamp":1786978219784,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T00:00:00Z","timestamp":1597881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["aspenjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Parenter Enteral Nutr"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Congenital short\u2010bowel syndrome (CSBS) is a rare disorder characterized by retardation of intestinal development. However, it is still not well recognized at present. In this study, the etiological, clinical, and genetic characteristics of CSBS in China were analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Nine infants with CSBS were recruited. Full\u2010thickness biopsy findings were evaluated by histopathology. Whole\u2010exome sequencing was performed to identify mutations in patients and their family members. All patients were followed up at &gt;1 year of age.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Six of 9 infants had malrotation, and 2 patients had intestinal atresia. The average total small\u2010bowel length was 51.7 (40\u201375) cm. Coxsackie and adenovirus receptor\u2010like membrane protein (\n                      <jats:italic>CLMP<\/jats:italic>\n                      ) mutations were found in 5 patients and were related to decreases in ileal goblet cells and mucous secretion. Among these 5 patients, 3 shared the same mutation (c. 206G&gt;A p.R69H), 1 patient had an exon 3\u20135 deletion, and 1 patient had the C.655T&gt;G, p.Cys219Gly, and C.389\u20102A&gt;C. Another case carried a loss\u2010of\u2010function mutation in filamin A (\n                      <jats:italic>FLNA<\/jats:italic>\n                      ). In the other 3 patients, no pathogenic mutations in genes related to intestinal development were found. The rate of catheter\u2010related bloodstream infection was 4.3 per 1000 catheter days, and intestinal failure\u2013associated liver disease (IFALD) was 77.8%. The median follow\u2010up duration was 24.1 months. Eight patients were weaned off parenteral nutrition (PN). Six patients still exhibited malnutrition during follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Infants with CSBS often need long\u2010term PN and remain at risk of SBS\u2010related complications.\n                      <jats:italic>CLMP<\/jats:italic>\n                      and\n                      <jats:italic>FLNA<\/jats:italic>\n                      mutations are associated with CSBS in the Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jpen.1974","type":"journal-article","created":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T12:51:50Z","timestamp":1595940710000},"page":"1009-1015","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Congenital Short\u2010Bowel Syndrome: Clinical and Genetic Presentation in China"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7937-9858","authenticated-orcid":false,"given":"Ying","family":"Wang","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5587-7772","authenticated-orcid":false,"given":"Shanshan","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihui","family":"Yan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Lu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yijng","family":"Tao","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongtao","family":"Xiao","sequence":"additional","affiliation":[{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"},{"name":"Shanghai Institute for Pediatric Research  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Cai","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition  Shanghai China"},{"name":"Shanghai Institute for Pediatric Research  Shanghai China"},{"name":"Department of Pediatric Surgery, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(69)80074-0"},{"issue":"20","key":"e_1_2_10_3_1","first-page":"30205\u20100","article-title":"Congenital short bowel syndrome: systematic review of a rare condition","volume":"0022","author":"Negri 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