Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) is the most common aggressive non-Hodgkin lymphoma, and about 10% of DLBCL cases primarily occur in the gastrointestinal tract. Previous reports have revealed that primary gastrointestinal-DLBCL (pGI-DLBCL) harbors different genetic mutations from other nodal or extranodal DLBCL. However, the exonic mutation profile of pGI-DLBCL has not been fully addressed. METHODS: We performed whole-exome sequencing of matched tumor tissues and blood samples from 53 pGI-DLBCL patients. The exonic mutation profiles were screened, and the correlations between genetic mutations and clinicopathological characteristics were analyzed. RESULTS: A total of 6,588 protein-altering events were found and the five most frequent mutated genes in our pGI-DLBCL cohort were IGLL5 (47%), TP53 (42%), BTG2 (28%), P2RY8 (26%) and PCLO (23%). Compared to the common DLBCL, significantly less or absence of MYD88 (0%), EZH2 (0%), BCL2 (2%) or CD79B (8%) mutations were identified in pGI-DLBCL. The recurrent potential driver genes were mainly enriched in pathways related to signal transduction, infectious disease and immune regulation. In addition, HBV infection had an impact on the mutational signature in pGI-DLBCL, as positive HBsAg was significantly associated with the TP53 and LRP1B mutations, two established tumor suppressor genes in many human cancers. Moreover, IGLL5 and LRP1B mutations were significantly correlated with patient overall survival and could serve as two novel prognostic biomarkers in pGI-DLBCL. CONCLUSIONS: Our study provides a comprehensive view of the exonic mutation profile of the largest pGI-DLBCL cohort to date. The results could facilitate the clinical development of novel therapeutic and prognostic biomarkers for pGI-DLBCL.

Does intact umbilical cord milking increase infection rates in preterm infants with premature prolonged rupture of membranes?

Objective: To investigate whether intact umbilical cord milking (I-UCM) can aggravate infection or result in other undesirable complications in preterm infants with premature prolonged rupture of membranes (PPROM).Methods: Neonates vaginally delivered between 28 and 37 weeks' gestation and complicated by PPROM before birth were randomly divided into two groups according to the cord clamping procedure: I-UCM before clamping and immediate cord clamping (ICC). Various parameters of the study participants were compared between the two groups.Results: Of 102 preterm infants, 48 and 54 were randomly allocated to the I-UCM and ICC groups, respectively. There were no significant differences between the two groups regarding hematological parameters (platelet count, white blood count, neutrophil ratio, and C-reactive protein) or neonatal outcomes (probable or certain neonatal infection, respiratory distress syndrome, necrotizing enterocolitis, and intraventricular hemorrhage) (p > .05). However, preterm neonates in the I-UCM group had higher serum hemoglobin and hematocrit levels (p < .05) and received fewer blood transfusions (p < .05) than those in the ICC group.Conclusion: Milking the umbilical cord to a preterm neonate with PPROM will not aggravate neonatal infection or result in other undesirable complications. This simple procedure will improve hemoglobin values and hematocrit levels and may lessen the need for transfusion during the neonatal period.

Effectiveness of health education in improving knowledge, practice and belief related to clonorchiasis in children.

Clonorchiasis is caused by the ingestion of raw freshwater fish containing Clonorchis sinensis larvae. Health education is crucial in sustainable control of clonorchiasis but extremely challenging when dealing with adults. To investigate if education in children would be a beneficial long-term approach, a cluster-controlled trial was implemented in two primary schools between 2017 and 2019 in Binyang county, Guangxi, China. A baseline survey was conducted in both schools, and then comprehensive education activities were implemented in the interventional one. Six and 12 months later, all pupils were subjected to a survey to assess the potential change of knowledge, practice and belief related to clonorchiasis. Finally, 247 pupils in interventional school and 151 ones in control were eligible for analysis. In the interventional school, the percentage of pupils with knowledge on transmission route, early symptoms, complications and carcinogenicity increased from 15.0% to 78.5% (p < 0.001), from 6.5% to 36.8% (p < 0.001), from 4.0% to 93.9% (p < 0.001) and from 4.5% to 49.4% (p < 0.001) after 12 months. In this school, 16 pupils (6.5%) had eaten raw freshwater fish during the year immediately before the baseline survey, a number that decreased to 3 (1.2%) (p = 0.002) 12 months later. The percentage of students had the belief on the ability not to eat raw freshwater fish in the future was 70.9% at the baseline and 97.2% 12 months later (p < 0.001). Although knowledge related to clonorchiasis also increased in the control school, the absolute percentage of changes was lower; in particular, practice and belief had not changed.