{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T10:58:51Z","timestamp":1740135531125,"version":"3.37.3"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Anesthesiol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Potocki -Lupski syndrome is an uncommon disorder caused by a micro-duplication in chromosome 17p11.2. Variable clinical manifestations bring troubles to the general and neuraxial anesthesia, including mental retardation, facial dysmorphisms, structural cardiovascular anomalies, scoliosis, and malignant hyperthermia. Until now, the anesthesia management for cesarean section in these patients has not been reported yet.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here we present a 23-year-old Chinese parturient with Potocki -Lupski syndrome who underwent elective cesarean section under spinal anesthesia. She was transferred to our hospital in her 40th week of gestation. She had a history of IgA nephropathy for more than three years and was diagnosed with Potocki -Lupski syndrome (17p12p11.2 segment 3.1\u00a0Mb repeat) in the 29th week of pregnancy. Amniocentesis showed the fetus had no abnormal autosomes. Preoperative multidisciplinary consultation suggested that she should terminate the pregnancy as soon as possible. She was ASA II. Her BMI was 26.43\u00a0kg\/m<jats:sup>2<\/jats:sup>. Her airway evaluation was normal. Her spine could bend well and her spinal interspace could be touched clearly. We did the single spinal anesthesia at L2-3 interspace and gave 0.5% bupivacaine 1.7\u00a0ml. The absolute anesthesia level reached T8. The Apgar score for the newborn infant was 10 for 1st minute, 5th minute, and 10th minute. The vital signs were steady without using any vasoactive drugs. The patient had a good prognosis, and was subsequently discharged from hospital.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>To date, the case may be the first reported spinal anesthesia for the parturient with Potocki -Lupski syndrome. Although its manifestations are variable, the spinal anesthesia is feasible under careful and comprehensive preoperative evaluation.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12871-021-01433-3","type":"journal-article","created":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T05:03:02Z","timestamp":1630990982000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome"],"prefix":"10.1186","volume":"21","author":[{"given":"Junfeng","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Bao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9281-8621","authenticated-orcid":false,"given":"Shuzhen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,9,7]]},"reference":[{"issue":"4","key":"1433_CR1","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1086\/512864","volume":"80","author":"L Potocki","year":"2007","unstructured":"Potocki L, Bi W, Treadwell-Deering D. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype[J]. Am J Human Genet. 2007;80(4):633\u201349.","journal-title":"Am J Human Genet"},{"issue":"2","key":"1433_CR2","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1097\/DBP.0b013e3181cda67e","volume":"31","author":"DE Treadwell-Deering","year":"2010","unstructured":"Treadwell-Deering DE, Powell MP, Potocki L. Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p112)[J]. J Dev Behav Pediatr. 2010;31(2):137\u201343.","journal-title":"J Dev Behav Pediatr"},{"issue":"9","key":"1433_CR3","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1016\/j.redar.2016.07.003","volume":"63","author":"AF Urb\u00f3n","year":"2016","unstructured":"Urb\u00f3n AF, Flores VA, Calavia \u00c1R. Anesthesia in Potocki-Lupski syndrome[J]. Rev Esp Anestesiol Reanim. 2016;63(9):548\u20139.","journal-title":"Rev Esp Anestesiol Reanim"},{"issue":"1","key":"1433_CR4","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1055\/s-0037-1604479","volume":"7","author":"AD Pratico","year":"2018","unstructured":"Pratico AD, Faisaperla R, Rizzo R, et al. A new patient with Potocki-Lupski Syndrome a literature review[J]. J Pediatr Genet. 2018;7(1):29\u201334.","journal-title":"J Pediatr Genet"},{"issue":"3","key":"1433_CR5","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1055\/s-0035-1564443","volume":"4","author":"J Neira-Fresneda","year":"2015","unstructured":"Neira-Fresneda J, Potocki L. Neurodevelopmental disorders associated with abnormal gene dosage: Smith-Magenis and Potocki-Lupski Syndromes[J]. J Pediatr Genet. 2015;4(3):159\u201367.","journal-title":"J Pediatr Genet"},{"issue":"4","key":"1433_CR6","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1016\/j.jpeds.2010.09.062","volume":"158","author":"C Soler-Alfonso","year":"2011","unstructured":"Soler-Alfonso C, Motil KJ, Turk CL, et al. Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive[J]. J Pediatr. 2011;158(4):655-659.e2.","journal-title":"J Pediatr"},{"issue":"4","key":"1433_CR7","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1086\/512864","volume":"80","author":"L Potocki","year":"2007","unstructured":"Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype[J]. Am J Hum Genet. 2007;80(4):633\u201349.","journal-title":"Am J Hum Genet"},{"issue":"10","key":"1433_CR8","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/s11916-020-00895-3","volume":"24","author":"J Li","year":"2020","unstructured":"Li J, Krishna R, Zhang Y, et al. Ultrasound-guided neuraxial anesthesia[J]. Curr Pain Headache Rep. 2020;24(10):59.","journal-title":"Curr Pain Headache Rep"}],"container-title":["BMC Anesthesiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12871-021-01433-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12871-021-01433-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12871-021-01433-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T05:03:27Z","timestamp":1630991007000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcanesthesiol.biomedcentral.com\/articles\/10.1186\/s12871-021-01433-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,7]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1433"],"URL":"https:\/\/doi.org\/10.1186\/s12871-021-01433-3","relation":{},"ISSN":["1471-2253"],"issn-type":[{"type":"electronic","value":"1471-2253"}],"subject":[],"published":{"date-parts":[[2021,9,7]]},"assertion":[{"value":"20 November 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 August 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 September 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal husband for publication of this case report. A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"216"}}