{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T00:59:20Z","timestamp":1710896360606},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T00:00:00Z","timestamp":1710806400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T00:00:00Z","timestamp":1710806400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Shenzhen Second People's Hospital","award":["20203357032"],"award-info":[{"award-number":["20203357032"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Thrombosis J"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Venous thromboembolism(VTE)is a common multifactorial disease. Anticoagulant protein deficiency is the most usual hereditary thrombophilia in the Chinese people, which includes protein C(PC), protein S and antithrombin deficiencies.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A retrospective analysis was conducted on clinical manifestations, laboratory tests, genetic information, and other relevant data of siblings diagnosed with VTE in 2020 at the Department of Pediatrics of Shenzhen Second People\u2019s Hospital. The proband, a 12-year-old female, was admitted to the hospital in December 2020 with a complaint of pain in the left lower limb for four days. The examination found that the PC activity was 53%, and B-ultrasound showed bilateral thrombosis of the great saphenous vein in the thigh segment. The proband\u2019s younger brother, a 10-year-old male, was admitted to the hospital in January 2021 due to right lower limb pain for two weeks. PC activity is 40%. B-ultrasound showed superficial venous thrombosis in the left lower limb and upper limb. Both siblings suffered from thalassemia and underwent splenectomy before recurrent thrombosis occurred. The proband\u2019s mother was asymptomatic, and her PC activity was 45%. Both cases were treated with warfarin anticoagulation, and their symptoms improved. The proband\u2019s mother was found to have a heterozygous mutation at this locus through Sanger sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Protein C deficiency should be considered for venous thromboembolism in childhood. The heterozygous mutation 1204\u00a0A\u2009&gt;\u2009G in PROC exon 9 in this family is reported for the first time.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12959-024-00597-5","type":"journal-article","created":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T10:05:12Z","timestamp":1710842712000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two cases of venous thromboembolism in siblings after splenectomy due to a novel PROC gene mutation"],"prefix":"10.1186","volume":"22","author":[{"given":"Yunfang","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxin","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anxin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,19]]},"reference":[{"issue":"3","key":"597_CR1","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1016\/j.cyto.2004.01.004","volume":"26","author":"M Brueckmann","year":"2004","unstructured":"Brueckmann M, Hoffmann U, De Rossi L, et al. Activated protein C inhibits the release of macrophage inflammatory protein-1-alpha from THP-1 cells and from human monocytes. Cytokine. 2004;26(3):106\u201313.","journal-title":"Cytokine"},{"issue":"5","key":"597_CR2","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1172\/JCI110385","volume":"68","author":"JH Griffin","year":"1981","unstructured":"Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981;68(5):1370\u20133.","journal-title":"J Clin Invest"},{"key":"597_CR3","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/j.thromres.2019.11.027","volume":"185","author":"A Winther-Larsen","year":"2020","unstructured":"Winther-Larsen A, Kjaergaard AD, Larsen OH, Hvas AM, Nissen PH. Protein C deficiency; PROC gene variants in a Danish population. 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The patient\u2019s consent was approved by Ethical committee of Shenzhen Second People\u2019s Hospital, Shenzhen, China.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"An informed written consent was obtained from the patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"28"}}