Activity

In the field of drowning research, the method of diatom morphology has been most applied to determine whether the cause of death is drowning. However, the characteristics of complex operation, high level of professional knowledge drive us to propose a new method. Here, based on the common phytoplankton in water(such as diatoms and Aeromonas), aiming at the rbcL, 23 S, NIES, rPOD, Hly and preprotoxin aerolysin gene, we designed 6 pairs of specific primers and applied SYBR Green real-time qPCR(RT-qPCR) method to detect phytoplankton in the Pearl River Basin of Guangdong Province, China, so as to achieve the purpose of diagnosing drowning. After the experimental verification of the corresponding algae species and the standard strains of bacteria, as well as the verification of tissue samples (lung, liver and kidney) of 56 cases( 40 drowning cases and 16 non-drowning cases), we found that these primers were of great accuracy and tedious laboratory work of diatom test was reduced. Based on the advantages of high throughput, short period and high sensitivity, this RT-qPCR method is expected to diagnose drowning more rapidly and accurately.

We examined the potential value of combining ultrasound and non-invasive prenatal screening (NIPS) of maternal blood to screen for major aneuploidies as an early approach before selective fetal reduction from twin pregnancy to singleton.

The sample was composed of pregnant women with di-chorionic di-amniotic twins who chose to undergo fetal reduction to singleton at 12-24 weeks of gestation. These women were asked to provide a blood sample for cell-free fetal DNA (cffDNA) testing prior to fetal reduction.

A total of 24 pregnant women with a twin pregnancy prior to fetal reduction to singleton were enrolled. There were 8 cases with structural anomalies (33.3%) in one twin that dictated fetal reduction. The proportion of patients who underwent selective fetal reduction for fetal abnormalities was larger than in several other studies. The NIPS identified 1 case of Trisomy 13 (4.2%). The other 15 cases (62.5%) had no structural or chromosomal anomalies. The decision to undergo elective reduction of twin pregnancy to singleton was made for social reasons or upon the parents’ request. Given the 33% of structural anomalies in the cohort, a cost analysis indicated that this procedure was 6.6-fold less expensive (vs. 4.6-fold with 4% structural anomalies in other publications) than conducting invasive procedures for the entire cohort.

The findings suggest that an early anatomical scan and cffDNA can increase the overall safety margin and reduce interventional procedures before elective reduction of twin pregnancy to singleton. However, a larger cohort is needed to confirm these results.

The findings suggest that an early anatomical scan and cffDNA can increase the overall safety margin and reduce interventional procedures before elective reduction of twin pregnancy to singleton. However, a larger cohort is needed to confirm these results.

Recurrent pregnancy loss (RPL) is a common infertility-related complication that affects approximately 1-3 % of women worldwide. Known causes of etiology are found in approximately half the cases but the other half remain unexplained. selleck compound It is estimated that several thousands of genes contribute to reproductive success in mammals and the genetic causes of RPL cannot be fully addressed through targeted genetic tests. In recent years, massive parallel sequencing technologies has helped discovering many causal mutations in hereditary diseases such as RPL.

Using whole-exome sequencing (WES), we studied a large multiplex consanguineous family with multiple cases of RPL and hydatidiform moles (HM). In addition, targeted Sanger sequencing was applied to 40 additional non-related individuals with RPL.

The use of WES permitted to identify the pathogenic variant in KHDC3L (c.322_325delGACT) in related who experienced RPL with or without HM. Sanger sequencing confirmed the segregation of the mutation throughout the pedigree and permitted to establish this variant as the genetic cause responsible for RPL and HM in this family.

KHDC3L is well established as a susceptibility gene for HM but we confirmed here that KHDC3L deleterious variants can also induce RPL. In addition, we observed a genotype-phenotype correlation, demonstrating that women with a truncating KHDC3L homozygous variant could not sustain a pregnancy and often had pregnancy losses mainly due to HM while those with the same heterozygous variant could have children but often endured RPL with no HM.

KHDC3L is well established as a susceptibility gene for HM but we confirmed here that KHDC3L deleterious variants can also induce RPL. In addition, we observed a genotype-phenotype correlation, demonstrating that women with a truncating KHDC3L homozygous variant could not sustain a pregnancy and often had pregnancy losses mainly due to HM while those with the same heterozygous variant could have children but often endured RPL with no HM.As an attractive renewable carbon resource, lignocellulose could be exploited to produce high-value-added products. Notably, comprehensive utilization of lignocelluloses and lignin first exploitation is still a challenge during bio-refinery process. In this study, an environmentally benign extraction method via hydrothermal-deep eutectic solvents pretreatment was proposed to separate hemicelluloses and high purity of lignin simultaneously from moso bamboo with most of cellulose retaining in the residues. Hemicelluloses were firstly removed by hydrothermal pretreatment, following with lignin extraction by DESs which was prepared from choline chloride and lactic acid, betaine and lactic acid, respectively. Notably, 98.2 wt% of hemicelluloses were degraded and mainly converted into pentose. Meanwhile, 80.1 wt% of delignification was achieved under the optimum condition (CC/LA, 140℃, 6 h), following with up to 99.49% of lignin purity. The mass balance evaluation demonstrated that the combined hydrothermal-deep eutectic solvents pretreatment is a potential method for efficient fractionation of lignocellulose.