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class="c-scholworks"><div class="c-scholworks__main-column"><ul class="c-scholworks__tag-list"><li class="c-scholworks__tag-article">Article</li><li class="c-scholworks__tag-peer">Peer Reviewed</li></ul><div><h3 class="c-scholworks__heading"><a href="/uc/item/78z1k348"><div class="c-clientmarkup">The need for early Kasai portoenterostomy: a Western Pediatric Surgery Research Consortium study</div></a></h3></div><div class="c-authorlist"><ul class="c-authorlist__list"><li class="c-authorlist__begin"><a href="/search/?q=author%3AKelley-Quon%2C%20Lorraine%20I">Kelley-Quon, Lorraine I</a>; </li><li><a href="/search/?q=author%3AShue%2C%20Eveline">Shue, Eveline</a>; </li><li><a href="/search/?q=author%3ABurke%2C%20Rita%20V">Burke, Rita V</a>; </li><li><a href="/search/?q=author%3ASmith%2C%20Caitlin">Smith, Caitlin</a>; </li><li><a href="/search/?q=author%3AKling%2C%20Karen">Kling, Karen</a>; </li><li><a href="/search/?q=author%3AMahdi%2C%20Elaa">Mahdi, Elaa</a>; </li><li><a href="/search/?q=author%3AOurshalimian%2C%20Shadassa">Ourshalimian, Shadassa</a>; </li><li><a href="/search/?q=author%3AFenlon%2C%20Michael">Fenlon, Michael</a>; </li><li><a href="/search/?q=author%3ADellinger%2C%20Matthew">Dellinger, Matthew</a>; </li><li><a href="/search/?q=author%3AShew%2C%20Stephen%20B">Shew, Stephen B</a>; </li><li><a href="/search/?q=author%3ALee%2C%20Justin">Lee, Justin</a>; </li><li><a href="/search/?q=author%3APadilla%2C%20Benjamin">Padilla, Benjamin</a>; </li><li><a href="/search/?q=author%3AInge%2C%20Thomas">Inge, Thomas</a>; </li><li><a href="/search/?q=author%3ARoach%2C%20Jonathan">Roach, Jonathan</a>; </li><li><a href="/search/?q=author%3AMarwan%2C%20Ahmed%20I">Marwan, Ahmed I</a>; </li><li><a href="/search/?q=author%3ARussell%2C%20Katie%20W">Russell, Katie W</a>; </li><li><a href="/search/?q=author%3AIgnacio%2C%20Romeo">Ignacio, Romeo</a>; </li><li><a href="/search/?q=author%3AFialkowski%2C%20Elizabeth">Fialkowski, Elizabeth</a>; </li><li><a href="/search/?q=author%3ANijagal%2C%20Amar">Nijagal, Amar</a>; </li><li><a href="/search/?q=author%3AIm%2C%20Cecilia">Im, Cecilia</a>; </li><li><a href="/search/?q=author%3AAzarow%2C%20Kenneth%20S">Azarow, Kenneth S</a>; </li><li><a href="/search/?q=author%3AOstlie%2C%20Daniel%20J">Ostlie, Daniel J</a>; </li><li class="c-authorlist__end"><a href="/search/?q=author%3AWang%2C%20Kasper">Wang, Kasper</a> </li></ul></div><div class="c-scholworks__publication"><a href="/uc/ucsd_postprints">UC San Diego Previously Published Works</a> (2022)</div><div class="c-scholworks__abstract"><div class="c-clientmarkup"><h3>Purpose</h3>The purpose of this study was to investigate factors impacting transplant-free survival among infants with biliary atresia.<h3>Methods</h3>A multi-institutional, retrospective cohort study was performed at nine tertiary-level children's hospitals in the United States. Infants who underwent Kasai portoenterostomy (KP) from January 2009 to May 2017 were identified. Clinical characteristics included age at time of KP, steroid use, surgical approach, liver pathology, and surgeon experience. Likelihood of transplant-free survival (TFS) was evaluated using logistic regression, adjusting for patient and surgeon-level factors. Secondary outcomes at 1 year included readmission, cholangitis, reoperation, mortality, and biliary clearance.<h3>Results</h3>Overall, 223 infants underwent KP, and 91 (40.8%) survived with their native liver. Mean age at surgery was 63.9 days (± 24.7 days). At 1 year, 78.5% experienced readmission, 56.9% developed cholangitis, 3.8% had a surgical revision, and 5 died. Biliary clearance at 3 months was achieved in 76.6%. Controlling for patient and surgeon-level factors, each additional day of age toward operation was associated with a 2% decrease in likelihood of TFS (OR 0.98, 95% CI 0.97-0.99).<h3>Conclusion</h3>Earlier surgical intervention by Kasai portoenterostomy at tertiary-level centers significantly increases likelihood for TFS. Policy-level interventions to facilitate early screening and surgical referral for infants with biliary atresia are warranted to improve outcomes.</div></div><div class="c-scholworks__media"><ul class="c-medialist"></ul></div></div><div class="c-scholworks__ancillary"><a class="c-scholworks__thumbnail" href="/uc/item/78z1k348"><img src="/cms-assets/6b138705a06856855353b3f2569df7454a9f821360c6fa262397a00fc5397f19" alt="Cover page: The need for early Kasai portoenterostomy: a Western Pediatric Surgery Research Consortium study"/></a></div></section><section class="c-scholworks"><div class="c-scholworks__main-column"><ul class="c-scholworks__tag-list"><li class="c-scholworks__tag-article">Article</li><li class="c-scholworks__tag-peer">Peer Reviewed</li></ul><div><h3 class="c-scholworks__heading"><a href="/uc/item/992849kp"><div class="c-clientmarkup">Risk of meningomyelocele mediated by the common 22q11.2 deletion.</div></a></h3></div><div class="c-authorlist"><ul class="c-authorlist__list"><li class="c-authorlist__begin"><a href="/search/?q=author%3AVong%2C%20Keng">Vong, Keng</a>; </li><li><a href="/search/?q=author%3ALee%2C%20Sangmoon">Lee, Sangmoon</a>; </li><li><a href="/search/?q=author%3AAu%2C%20Kit">Au, Kit</a>; </li><li><a href="/search/?q=author%3ACrowley%2C%20T">Crowley, T</a>; </li><li><a href="/search/?q=author%3ACapra%2C%20Valeria">Capra, Valeria</a>; </li><li><a href="/search/?q=author%3AMartino%2C%20Jeremiah">Martino, Jeremiah</a>; </li><li><a href="/search/?q=author%3AHaller%2C%20Meade">Haller, Meade</a>; </li><li><a href="/search/?q=author%3AAra%C3%BAjo%2C%20Camila">Araújo, Camila</a>; </li><li><a href="/search/?q=author%3AMachado%2C%20H%C3%A9lio">Machado, Hélio</a>; </li><li><a href="/search/?q=author%3AGeorge%2C%20Renee">George, Renee</a>; </li><li><a href="/search/?q=author%3AGerding%2C%20Bryn">Gerding, Bryn</a>; </li><li><a href="/search/?q=author%3AJames%2C%20Kiely">James, Kiely</a>; </li><li><a href="/search/?q=author%3AStanley%2C%20Valentina">Stanley, Valentina</a>; </li><li><a href="/search/?q=author%3AJiang%2C%20Nan">Jiang, Nan</a>; </li><li><a href="/search/?q=author%3AAlu%2C%20Kameron">Alu, Kameron</a>; </li><li><a href="/search/?q=author%3AMeave%2C%20Naomi">Meave, Naomi</a>; </li><li><a href="/search/?q=author%3ANidhiry%2C%20Anna">Nidhiry, Anna</a>; </li><li><a href="/search/?q=author%3AJiwani%2C%20Fiza">Jiwani, Fiza</a>; </li><li><a href="/search/?q=author%3ATang%2C%20Isaac">Tang, Isaac</a>; </li><li><a href="/search/?q=author%3ANisal%2C%20Ashna">Nisal, Ashna</a>; </li><li><a href="/search/?q=author%3AJhamb%2C%20Ishani">Jhamb, Ishani</a>; </li><li><a href="/search/?q=author%3APatel%2C%20Arzoo">Patel, Arzoo</a>; </li><li><a href="/search/?q=author%3APatel%2C%20Aakash">Patel, Aakash</a>; </li><li><a href="/search/?q=author%3AMcEvoy-Venneri%2C%20Jennifer">McEvoy-Venneri, Jennifer</a>; </li><li><a href="/search/?q=author%3ABarrows%2C%20Chelsea">Barrows, Chelsea</a>; </li><li><a href="/search/?q=author%3AShen%2C%20Celina">Shen, Celina</a>; </li><li><a href="/search/?q=author%3AHa%2C%20Yoo-Jin">Ha, Yoo-Jin</a>; </li><li><a href="/search/?q=author%3AHowarth%2C%20Robyn">Howarth, Robyn</a>; </li><li><a href="/search/?q=author%3AStrain%2C%20Madison">Strain, Madison</a>; </li><li><a href="/search/?q=author%3AAshley-Koch%2C%20Allison">Ashley-Koch, Allison</a>; </li><li><a href="/search/?q=author%3AAzam%2C%20Matloob">Azam, Matloob</a>; </li><li><a href="/search/?q=author%3AMumtaz%2C%20Sara">Mumtaz, Sara</a>; </li><li><a href="/search/?q=author%3ABot%2C%20Gyang">Bot, Gyang</a>; </li><li><a href="/search/?q=author%3AFinnell%2C%20Richard">Finnell, Richard</a>; </li><li><a href="/search/?q=author%3AKibar%2C%20Zoha">Kibar, Zoha</a>; </li><li><a href="/search/?q=author%3AMarwan%2C%20Ahmed">Marwan, Ahmed</a>; </li><li><a href="/search/?q=author%3AMelikishvili%2C%20Gia">Melikishvili, Gia</a>; </li><li><a href="/search/?q=author%3AMeltzer%2C%20Hal">Meltzer, Hal</a>; </li><li><a href="/search/?q=author%3AMutchinick%2C%20Osvaldo">Mutchinick, Osvaldo</a>; </li><li><a href="/search/?q=author%3AStevenson%2C%20David">Stevenson, David</a>; </li><li><a href="/search/?q=author%3AMroczkowski%2C%20Henry">Mroczkowski, Henry</a>; </li><li><a href="/search/?q=author%3AOstrander%2C%20Betsy">Ostrander, Betsy</a>; </li><li><a href="/search/?q=author%3ASchindewolf%2C%20Erica">Schindewolf, Erica</a>; </li><li><a href="/search/?q=author%3AMoldenhauer%2C%20Julie">Moldenhauer, Julie</a>; </li><li><a href="/search/?q=author%3AZackai%2C%20Elaine">Zackai, Elaine</a>; </li><li><a href="/search/?q=author%3AEmanuel%2C%20Beverly">Emanuel, Beverly</a>; </li><li><a href="/search/?q=author%3AGarcia-Minaur%2C%20Sixto">Garcia-Minaur, Sixto</a>; </li><li><a href="/search/?q=author%3ANowakowska%2C%20Beata">Nowakowska, Beata</a>; </li><li><a href="/search/?q=author%3AStevenson%2C%20Roger">Stevenson, Roger</a>; </li><li><a href="/search/?q=author%3AZaki%2C%20Maha">Zaki, Maha</a>; </li><li><a href="/search/?q=author%3ANorthrup%2C%20Hope">Northrup, Hope</a>; </li><li><a href="/search/?q=author%3AMcNamara%2C%20Hanna">McNamara, Hanna</a>; </li><li><a href="/search/?q=author%3AAldinger%2C%20Kimberly">Aldinger, Kimberly</a>; </li><li><a href="/search/?q=author%3APhelps%2C%20Ian">Phelps, Ian</a>; </li><li><a href="/search/?q=author%3ADeng%2C%20Mei">Deng, Mei</a>; </li><li><a href="/search/?q=author%3AGlass%2C%20Ian">Glass, Ian</a>; </li><li><a href="/search/?q=author%3AMorrow%2C%20Bernice">Morrow, Bernice</a>; </li><li><a href="/search/?q=author%3AMcDonald-McGinn%2C%20Donna">McDonald-McGinn, Donna</a>; </li><li><a href="/search/?q=author%3ASanna-Cherchi%2C%20Simone">Sanna-Cherchi, Simone</a>; </li><li><a href="/search/?q=author%3ALamb%2C%20Dolores">Lamb, Dolores</a>; </li><li class="c-authorlist__end"><a href="/search/?q=author%3AGleeson%2C%20Joseph">Gleeson, Joseph</a> </li></ul></div><div class="c-scholworks__publication"><a href="/uc/ucsd_postprints">UC San Diego Previously Published Works</a> (2024)</div><div class="c-scholworks__abstract"><div class="c-clientmarkup">Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of Crkl, one of several neural tube-expressed genes within the minimal deletion interval, was sufficient to replicate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficiency. Thus, the common 22q11.2 deletion confers substantial meningomyelocele risk, which is partially alleviated by folate supplementation.</div></div><div class="c-scholworks__media"><ul class="c-medialist"></ul></div></div><div class="c-scholworks__ancillary"><a class="c-scholworks__thumbnail" href="/uc/item/992849kp"><img src="/cms-assets/c5b60df27ecbeb95db96ff1ad601be9cd0c96e248fc5a18ee1170fabae1bcbdc" alt="Cover page: Risk of meningomyelocele mediated by the common 22q11.2 deletion."/></a></div></section></section></main></form></div><div><div class="c-toplink"><a href="javascript:window.scrollTo(0, 0)">Top</a></div><footer class="c-footer"><nav class="c-footer__nav"><ul><li><a href="/">Home</a></li><li><a href="/aboutEschol">About eScholarship</a></li><li><a href="/campuses">Campus Sites</a></li><li><a href="/ucoapolicies">UC Open Access Policy</a></li><li><a href="/publishing">eScholarship Publishing</a></li><li><a href="https://www.cdlib.org/about/accessibility.html">Accessibility</a></li><li><a href="/privacypolicy">Privacy Statement</a></li><li><a href="/policies">Site Policies</a></li><li><a href="/terms">Terms of Use</a></li><li><a href="/login"><strong>Admin Login</strong></a></li><li><a href="https://help.escholarship.org"><strong>Help</strong></a></li></ul></nav><div class="c-footer__logo"><a href="/"><img class="c-lazyimage" data-src="/images/logo_footer-eschol.svg" alt="eScholarship, University of California"/></a></div><div class="c-footer__copyright">Powered by the<br/><a href="http://www.cdlib.org">California Digital Library</a><br/>Copyright © 2017<br/>The Regents of the University of California</div></footer></div></div></div></div> <script src="/js/vendors~app-bundle-2aefc956e545366a5d4e.js"></script> <script src="/js/app-bundle-3c8ebc2ec05dcc3202fd.js"></script> </body> </html>