Objective To identify candidate genes and genetic variants for preeclampsia using a bioinformatic approach to extract and organize genes and variants from the published literature. Methods Semantic data mining and natural language processing were used to identify articles from the published literature meeting criteria for potential association with preeclampsia. Articles were manually reviewed by trained curators. Cluster analysis was used to aggregate the extracted genes into gene sets associated with preeclampsia or severe preeclampsia, early or late preeclampsia, maternal or fetal tissue sources, and concurrent conditions (i.e., fetal growth restriction (FGR), gestational hypertension, or hemolysis, elevated liver enzymes, and low platelet count). Gene ontology was used to organize this large group of genes into ontology groups. Results From more than 22 million records in PubMed, with 28,000 articles on preeclampsia, our data mining tool identified 2,300 articles with potential genetic associations with preeclampsia-related phenotypes. After curation, 729 articles were “accepted” that contained ‘statistically significant’ associations with 535 genes. We saw distinct segregation of these genes by severity and timing of preeclampsia, by maternal or fetal source, and with associated conditions (e.g., gestational hypertension, fetal growth restriction, or hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome). Conclusion The gene sets and ontology groups identified through our systematic literature curation indicate that preeclampsia represents several distinct phenotypes, with distinct and overlapping maternal and fetal genetic contributions.

Objective To examine circulating levels of inter-alpha inhibitor protein (IaIp) in infants with necrotizing enterocolitis (NEC), spontaneous intestinal perforation (SIP) and matched controls in order to assess the diagnostic accuracy of IaIp to differentiate NEC from SIP; and to compare receiver operating characteristics (ROC) of IaIp for NEC with C-reactive protein (CRP). Study design A p rospective, nested case control study of infants with feeding intolerance was carried out. Blood and clinical data were collected from 27 infants diagnosed with NEC or SIP and from 26 matched controls admitted to our unit. Infants with modified Bell's criteria stage 2 or higher were included as NEC. Clinical, radiological and/or surgical findings were used to identify infants with SIP. Controls were matched for gestational age, postnatal age, sex, and birth weight. Results Mean±SD IaIp blood levels were 147±38 mg/L, 276±67 mg/L and 330±100 mg/L in infants with NEC, SIP and matched controls, respectively (P<0.004 and P<0.01). ROC analysis to establish the predictive value of NEC demonstrated areas under curve of 0.98 and 0.63 for IaIp and CRP, respectively. Conclusions IaIp levels were significantly decreased in infants with NEC compared with SIP and matched controls. The diagnostic accuracy of IaIp for NEC was superior to that of CRP.