Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity-confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.

[Gene characteristics and changing trend of neonatal thalassemia in Dongguan, China].

OBJECTIVE: To study the gene distribution characteristics of neonatal thalassemia in Dongguan, China and the changing trend of the gene distribution characteristics of neonates with thalassemia in Dongguan in 2014-2018. METHODS: A retrospective analysis was performed for the data on neonatal thalassemia screening from the Dongguan Neonatal Disease Screening System between January 2014 and December 2018. A total of 616 718 neonates were enrolled who were born in Dongguan. RESULTS: Among the 616 718 neonates, 52 308 were positive for primary screening, 10 366 were recalled, 8 576 underwent genetic diagnosis, and 6 432 were confirmed with thalassemia by genetic diagnosis. The carrying rates of thalassemia genes in 2014-2018 were 5.81%, 5.47%, 5.96%, 6.91%, and 7.90% respectively, and showed an upward trend (P<0.001). The positive rates of neonatal thalassemia screening in 2014-2018 were 9.12%, 8.34%, 7.54%, 8.13%, and 9.32% respectively (P<0.001). The positive rates of genetic diagnosis of neonatal thalassemia in 2014-2018 were 0.89%, 1.11%, 1.24%, 0.90%, and 1.09% respectively (P<0.001). In 2014-2018, 5 098 cases of α-thalassemia were detected, accounting for 79.26% of all cases, and 1 230 cases of ß-thalassemia were detected, accounting for 19.12% of all cases. The detection rate of α-thalassemia was significantly higher than that of ß-thalassemia in each year (P<0.001). In 2014-2018, static α-thalassemia, mild α-thalassemia, and mild ß-thalassemia were the main types observed in neonates. CONCLUSIONS: Most of the neonates with thalassemia have α-thalassemia in Dongguan, with static α-thalassemia and mild α-thalassemia as the main types. The carrying rate of thalassemia genes keeps increasing in neonates in Dongguan, and the prevention and treatment of thalassemia is still challenging.

The Inhibition of UDP-Glucuronosyltransferase (UGT) Isoforms by Praeruptorin A and B.

Praeruptorin A (PA) and B (PB) are two important compounds isolated from Bai-hua Qian-hu and have been reported to exert multiple biochemical and pharmacological activities. The present study aims to determine the inhibition of PA and PB on the activity of important phase II drug-metabolizing enzymes uridine 5'-diphospho-glucuronosyltransferase (UGTs) isoforms. In vitro UGT incubation system was used to determine the inhibition potential of PA and PB on the activity of various UGT isoforms. In silico docking was performed to explain the inhibition difference between PA and PB towards the activity of UGT1A6. Inhibition behaviour was determined, and in vitro-in vivo extrapolation was performed by using the combination of in vitro inhibition kinetic parameter (Ki ) and in vivo exposure level of PA. Praeruptorin A (100 µM) exhibited the strongest inhibition on the activity of UGT1A6 and UGT2B7, with 97.8% and 90.1% activity inhibited by 100 µM of PA, respectively. In silico docking study indicates the significant contribution of hydrogen bond interaction towards the stronger inhibition of PA than PB towards UGT1A6. Praeruptorin A noncompetitively inhibited the activity of UGT1A6 and competitively inhibited the activity of UGT2B7. The inhibition kinetic parameter (Ki ) of PA towards UGT1A6 and UGT2B7 was calculated to be 1.2 and 3.3 µM, respectively. The [I]/Ki value was calculated to be 15.8 and 5.8 for the inhibition of PA on UGT1A6 and UGT2B7, indicating high inhibition potential of PA towards these two UGT isoforms in vivo. Therefore, closely monitoring the interaction between PA and drugs mainly undergoing UGT1A6 or UGT2B7-catalyzed metabolism is very necessary. Copyright © 2016 John Wiley & Sons, Ltd.

Ultrasound coupled RES-loaded ultrasound microbubble inhibits the proliferation of ovarian cancer cells by expression of long non-coding RNA (lncRNA) involved in apoptosis using real-time PCR.

The primary objective of this study was to evaluate the effect of low-frequency ultrasound combined with RES-loaded ultrasound microbubble contrast agents on the transcriptional and translational activities of ovarian cancer cells. After being cultures, ovarian cancer cells (OVCAR-3) and human umbilical cord endothelial cells (HUCEC) were transfected with siRNA, which was followed by RNA extraction and real-time PCR to evaluate transcriptional activity. Translational activity was determined by western blotting, which was followed by RNA interference. Proliferative and invasive activity was measured using cell proliferation, colony formation, and immunofluorescence assays. Lastly, RNA sequencing was performed. Our findings indicated that ultrasound combined with RES microbubbles inhibited cell proliferation and invasion. The expression of ING5 was enhanced, while the expression of EMT was suppressed in ovarian cancer cells. A negative correlation was observed between of the expression of ING5 and cell proliferation/migration, which were enhanced upon inhibition of ING5, suggesting dysregulation of transcriptional and translational cellular processes which could be of diagnostic and therapeutic value in ovarian cancer. Additionally, the dysregulation of lncRNAs can alter cellular homeostasis and promote ovarian cancer progression. A combination of low-frequency and RES-loaded ultrasound microbubbles was found to effectively inhibit the proliferation of OVCAR-3 ovarian cancer cells and induce apoptosis. This approach was more effective than low-frequency ultrasound combined with RES alone.

Complete chloroplast genome of Cerasus fengyangshanica (Rosaceae), a wild flowering cherry endemic to China.

Cerasus fengyangshanica is a wild flowering cherry endemic to Mount Fengyang, China. Here, we reported the complete chloroplast (cp) genome of C. fengyangshanica (GenBank accession number: MW160272). The cp genome was 157,964 bp long, with a large single-copy region (LSC) of 85,972 bp and a small single-copy region (SSC) of 19,086 bp separated by a pair of inverted repeats (IRs) of 26,453 bp. It encodes 129 genes, including 84 protein-coding genes, 37 tRNA genes, and 8 ribosomal RNA genes. We also reconstructed the phylogeny of Prunus sensu lato using maximum likelihood (ML) method, including our data and previously reported cp genomes of related taxa. The phylogenetic analysis indicated that C. fengyangshanica is closely related with Prunus maximowiczii.

Impacts of changes in vegetation on saturated hydraulic conductivity of soil in subtropical forests.

Saturated hydraulic conductivity (Ks) is one of the most important soil properties that determines water flow behavior in terrestrial ecosystems. However, the Ks of forest soils is difficult to predict due to multiple interactions, such as anthropological and geomorphic processes. In this study, we examined the impacts of vegetation type on Ks and associated mechanisms. We found that Ks differed with vegetation type and soil depth, and the impact of vegetation type on Ks was dependent on soil depth. Ks did not differ among vegetation types at soil depths of 0-10 and 20-30 cm, but was significantly lower in managed forest types (mixed evergreen broad-leaved and coniferous forests, bamboo forests, and tea gardens) than native evergreen broadleaf forests at a depth of 10-20 cm. Boosted regression tree analysis indicated that total porosity, non-capillary porosity, and macro water-stable aggregates were the primary factors that influenced Ks. Our results suggested that vegetation type was a key factor that influences hydraulic properties in subtropical forest soils through the alteration of soil properties, such as porosity and macro water-stable aggregates.

Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan.

In order to investigate essential molecular causes for hearing loss and mutation frequency of deafness-related genes, 1315 newborns who did not pass the Newborn Hearing Screening (NHS) (audio-no-pass) and 1000 random-selected infants were subjected to detection for 101 hotspot mutations in 18 common deafness-related genes. Totally, 23 alleles of 7 deafness genes were detected out. Significant difference (χ2 = 25.320, p = 0.000) existed in causative mutation frequency between audio-no-pass group (81/1315, 6.160%) and random-selected cohort (18/1000, 1.80%). Of the genes detected out, GJB2 gene mutation was with significant difference (χ2 = 75.132, p = 0.000) between audio-no-pass group (417/1315, 31.711%) and random-selected cohort (159/1000, 15.900%); c.109G > A was the most common allele, as well as the only one with significantly different allele frequency (χ2 = 79.327, p = 0.000) between audio-no-pass group (392/1315, 16.84%) and random-selected cohort (140/1000, 7.55%), which suggested c.109G > A mutation was critical for newborns' hearing loss. This study performed detection for such a large scale of deafness-associated genes and for the first time compared mutations between audio-no-pass and random-recruited neonates, which not only provided more reliable DNA diagnosis result for medical practioners and enhanced clinical care for the newborns, but gave more accurate estimation for mutation frequency.

[The observation of serum sexual hormone levels before and after treatment in male hyperthyroidisms].

OBJECTIVE: To explore the changes of serum sexual hormone levels in male hyperthyroidisms before and after treatment. METHODS: Compared with the control group, the serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T) and estradiol (E2) of 68 cases of male hyperthyroidisms before and after treatment were detected by chemiluminescence immunoassay technique, and then statistical analysis was performed. RESULTS: The serum T and E2 levels of male hyperthyroidisms were significantly higher than those of the control group before treatment (P < 0.005); while no significant difference in FSH and LH levels existed between the patients and the control group (P > 0.05). There was no difference in FSH, LH, T and E2 levels between patients and the control group after treatment (P > 0.05). CONCLUSION: There are sexual hormone metabolism disorder in hyperthyroidism men, and the increasing serum T and E2 levels are only to adapt the high metabolism environment, and the changes of hypothalamus-pituitary-gonadal axes. Along with the control of hyperthyroidism, the sexual hormone levels return to normal.

[Population structure and community characteristics of Pseudotaxus chienii in Fengyangshan National Natural Reserve].

Pseudotaxus chienii, an endemic plant in China, is one of the second grade state protection wild plants, and distributes in Fengyangshan Natural Reserve as one of its concentrative dwelling places. A survey in the region was carried out on 10 communities, which were dominated by P. chienii. The analysis on its size structure, spatial distribution pattern and community characteristics showed that the populations of P. chienii could grow in the communities dominated by Rhododendron simiarum, Fokienia hodginsii-R. simiarum, and evergreen broad-leaved forests. In R. simiarum communities, the size structure, survival curve, and overwhelming community distribution pattern of P. chienii showed a sustaining development, while in communities dominated by F. hodginsii-R. simiarum, though the size structure was declining, the survival curve was Deevy- III type. Plenty of plantlets were still existed, and the populations kept steady. Two types were considered to be the most suitable ones for P. chienii populations. The important value of P. chienii reached 5% - 10%. In evergreen broad-leaved forests, the populations of P. chienii showed to be a declining type, and the survival curve was Deevy- II type. The distribution pattern was random, indicating that P. chienii populations could not fit for survive in this kind of communities. Correlation analysis showed that P. chienii populations had a positive correlation with R. simiarum and F. hodginsii, but a negative correlation with Cyclobalanopsis stewardiana and Schima superba. P. chienii could associate to the habits with the community canopy density of about 0.6 - 0.8. From the results mentioned above, the populations of P. chienii could be able to sustain and develop, and the existing habitat in Fengyangshan should be protected effectively. The protection of P. chienii requires more basic work to establish efficient measures to protect its habitat.