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Abstract Background Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities. However, the prenatal phenotypes associated with 16p11.2 copy number variations (CNVs) have not been well characterized. This study aimed to provide an elaborate summary of intrauterine phenotypic features for these genomic disorders. Methods Twenty prenatal amniotic fluid samples diagnosed with 16p11.2 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed in parallel. The pregnancy outcomes and health conditions of all cases after birth were followed up. Meanwhile, we made a pooled analysis of the prenatal phenotypes in the published cases carrying 16p11.2 CNVs. Results 20 fetuses (20/20,884, 0.10%) with 16p11.2 CNVs were identified: five had 16p11.2 BP2-BP3 deletions, 10 had 16p11.2 BP4-BP5 deletions and five had 16p11.2 BP4-BP5 duplications. Abnormal ultrasound findings were recorded in ten fetuses with 16p11.2 deletions, with various degrees of intrauterine phenotypic features observed. No ultrasound abnormalities were observed in any of the 16p11.2 duplications cases during the pregnancy period. Eleven cases with 16p11.2 deletions terminated their pregnancies. For 16p11.2 duplications, four cases gave birth to healthy neonates except for one case that was lost to follow-up. Conclusions Diverse prenatal phenotypes, ranging from normal to abnormal, were observed in cases with 16p11.2 CNVs. For 16p11.2 BP4-BP5 deletions, abnormalities of the vertebral column or ribs and thickened nuchal translucency were the most common structural and non-structural abnormalities, respectively. 16p11.2 BP2-BP3 deletions might be closely associated with fetal growth restriction and single umbilical artery. No characteristic ultrasound findings for 16p11.2 duplications have been observed to date. Given the variable expressivity and incomplete penetrance of 16p11.2 CNVs, long-term follow-up after birth should be conducted for these cases.

ABSTRACTAccurate assessments of forest biomass carbon are invaluable for managing forest resources, evaluating effects on ecological protection, and achieving goals related to climate change and sustainable development. Currently, the integration of optical and synthetic aperture radar (SAR) data has been extensively utilized in estimating forest aboveground biomass carbon (AGC), while it is limited by using single-phase remote sensing images. Time-series data, which capture the interannual dynamic growth and seasonal variations of photosynthetic phenology in forests, can sufficiently describe forest growth characteristics. However, there remains a gap in research focusing on utilizing satellite-based time-series data for AGC estimation, especially for SAR sensors. This study investigated the potential of satellite-based optical and SAR time-series data for estimating AGC. Here, we undertook nine quantitative experiments of AGC estimation from Landsat 8 and Sentinel-1 and tested several regression algorithms (including multiple linear regression (MLR), random forests (RF), artificial neural network (ANN), and extreme gradient boosting (XGBoost)) to explore the contributions of spatiotemporal features to AGC estimation. The results suggested that the XGBoost algorithm was suitable for AGC estimation with explanatory solid power and stable performance. The temporal features representing forest growth trends and periodic change characteristics (such as coefficients of continuous wavelet transform) were more valuable for AGC estimation than spatial features for both sensor types, accounting for around 40% ~50% of the variance compared to 17% ~25%. The combination of optical and SAR time-series data produced the best performance (R2 = 0.814, RMSE = 18.789 Mg C/ha, rRMSE = 26.235%), compared with when utilizing optical or SAR time-series data alone (optical: R2 of 0.657 and rRMSE of 35.317%; SAR: R2 of 0.672 and rRMSE of 34.701%). Feature importance analysis also verified that temporal features of optical vegetation indices, SWIR 1/2 bands, and SAR backscatter from VV polarization were the most critical variables for AGC estimation. Furthermore, incorporating temporal features into the modeling is illustrated to be effective in reducing saturation effects within high-biomass forests. This study demonstrated the superiority of time-series data for forest carbon estimation. While the applicability of this methodology has only been investigated in evergreen coniferous forests, it may provide a viable approach needed to make full use of increasingly better and free satellite time-series data to estimate forest AGC with high accuracy, supporting policy making of forest management and sustainable development.

Accurate estimation of crown fire potential (CFP) can improve guidance on crown fire control and management. However, robust simulations of crown fire behavior are still challenging, limiting the accuracy of regional-scale CFP mapping. This study aims to incorporate fire spread simulation and machine learning algorithms to improve CFP mapping at a regional scale. First, we built a crown fire dataset using the fire simulations from the FARSITE model, as well as multi-source data, including fuel, weather, and topography variables. Fuel model parameters were optimized with four metaheuristic algorithms for robust fire simulations. Then, the hybrid models of CFP estimation (TBA-ML) were established by coupling with the transfer AdaBoost (TrAdaBoost) algorithm and three machine learning (ML) algorithms, i.e., Bayesian Network (BN), Random Forest (RF), and Support Vector Machine (SVM), to estimate CFP for crown fire danger assessment spatially. Results showed that the TBA-BN model performed best in estimating CFP with higher accuracy (AUC>0.9 and F1 score > 0.8) than the RF- and SVM-based CFP models. The variable importance and causal analysis showed that fuel and topography variables have major contributions to crown fire occurrence. Finally, we mapped monthly average passive and active CFP at regional scales and qualitatively demonstrated that our CFP time-series products successfully captured the dynamic change of crown fire danger. The above results suggest the potential of integrating fire spread simulation and machine learning algorithms to accurately estimate CFP to improve crown fire management.

ObjectiveGenetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study aimed to investigate the chromosomal CNVs in fetuses with mild to moderate VM, and explore its genotype-phenotype correlation.MethodsA total of 242 fetuses with mild to moderate VM detected by prenatal ultrasound were enrolled in our study from October 2018 to October 2022. All cases underwent chromosomal microarray analysis (CMA) and G-banding simultaneously. All VM cases were classified different subgroups according to the maternal age, severity, VM distribution and presence/absence of other ultrasound abnormalities. The pregnancy outcomes and health conditions after birth were followed up. We also performed a pooled analysis regarding likely pathogenic and pathogenic CNVs (LP/P CNVs) for VM.ResultsThe detection rate of chromosomal abnormalities by karyotyping was 9.1% (22/242), whereas it was 16.5% (40/242) when CMA was conducted (P < 0.05). The total detection rate of chromosomal abnormalities by karyotyping and CMA was 21.1% (51/242). A 12.0% incremental yield of CMA over karyotyping was observed. The detection rate of total genetic variants in fetuses with bilateral VM was significantly higher than in fetuses with unilateral VM (30.0% vs. 16.7%, P = 0.017). No significant differences were discovered between isolated VM and non-isolated VM, or between mild and moderate VM, or between advanced maternal age (AMA) and non-AMA (all P > 0.05). 28 fetuses with VM were terminated and 214 fetuses were delivered: one presented developmental delay and one presented congenital heart disease. The VM cases with both positive CMA and karyotypic results had a higher rate of termination of pregnancy than those with either a positive CMA or karyotypic result, or both negative testing results (P < 0.001).ConclusionThe combination of CMA and karyotyping should be adopted to improve the positive detection rate of chromosomal abnormalities for VM. The total genetic abnormalities detected using both techniques would affect the final pregnancy outcomes. LP/P CNVs at 16p11.2, 17p13, and 22q11.21 were identified as the top three chromosomal hotspots associated with VM, which would enable genetic counselors to provide more precise genetic counseling for VM pregnancies.

Abstract Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the Gene Expression Omnibus (GEO) and ArrayExpress databases to determine the differentially expressed genes (DEGs). In addition, functional enrichment analysis including the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) was performed. Protein–protein interaction (PPI) networks, modules, and miRNA-mRNA regulatory networks were constructed and analyzed and the validation of hub genes was performed. A total of 601 shared DEGs were identified, including 416 down-regulated and 185 up-regulated genes. The findings of the enrichment analysis indicated that the shared DEGs were mostly enriched in sexual reproduction, reproductive process, male gamete generation, immune response, and immunity-related pathways. In addition, six hub genes (CCNA2, CCNB2, TOP2A, CDC20, BUB1, and BUB1B) were selected from the PPI network by using the cytoHubba and MCODE plug-ins. The expression levels of the hub genes were significantly decreased in patients with SCOS compared to that in normal spermatogenesis controls as indicated by the microarray data, single-cell transcriptomic data, and clinical sample levels. Furthermore, the potential miRNAs were predicted via the miRNA-mRNA network construction. These hub genes and miRNAs can be used as potential biomarkers that may be related to SCOS. However, it has not been proven that the differential expression of these biomarkers is the molecular pathogenesis mechanisms of SCOS. Our findings suggest that these biomarkers can be serve as clinical tool for diagnosis targets and may have some impact on the spermatogenesis of SCOS from a testicular germ cell perspective.

The effectiveness of employing La-Ca-Co co-doping has been demonstrated as the optimal approach for enhancing the magnetic performance of strontium ferrite. However, limited studies have explored the evolution of the magnetoplumbite phase and its correlation with the sintering temperature. In our research, La-Ca-Co doped strontium ferrite permanent magnets were fabricated using a conventional ceramic process and a two-step sintering technique. After sintering at different temperatures, all the samples possess proper c-axis orientation. When the sintering temperature was raised from 1175 °C to 1205 °C, there was an upward trend observed in the remanence Br, increasing from 430 mT to 439 mT. The coercivity Hcj exhibited an increase from 380 kA/m and reached its peak at 397 kA/m at 1185 °C. Although the Br value remained favorable, the coercivity experienced substantial deterioration, reaching its lowest point at 303 kA/m at 1205 °C. Under a sintering temperature of 1195 oC, magnetic performance with optimal energy product was achieved, with Br of 439 mT, Hcj of 379 kA/m, Hcb of 318 kA/m, and (BH)max of 35.5 kJm-3.

Abstract Background The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles. Methods A retrospective study of 4266 live birth cycles collected from January 2016 to October 2021 at the Center for Reproductive Medicine, First Hospital of Jilin University was performed. The sample size was sufficient based on the minimal ten events per variable (EPV) rule. The primary outcome of this study was preterm birth. The cycles were divided into the preterm birth group (n = 827) and the full-term delivery group (n = 3439). A nomogram was established based on the multivariate logistic regression analysis results. The area under the curve (AUC) was calculated to assess the prediction accuracy of the nomogram model. The calibration curve was used to measure the calibration of the nomogram. Results Multivariate logistic regression analyses showed that female obesity or overweight (OR = 1.366, 95% CI: 1.111–1.679; OR = 1.537, 95% CI: 1.030–2.292), antral follicle count (AFC) of more than 24 (OR = 1.378, 95% CI: 1.035–1.836), multiple pregnancies (OR = 6.748, 95% CI: 5.559–8.190), gestational hypertension (OR = 9.662, 95% CI: 6.632–14.078) and gestational diabetes (OR = 4.650, 95% CI: 2.289–9.445) were the independent risk factors for preterm birth in IVF patients. The area under curve (AUC) under the receiver operating characteristic (ROC) curve in the prediction model was 0.781(95%CI: 0.763–0.799). The calibration curve of the nomogram showed that the prediction model had a good calibration. Conclusions We used five risk factors to conduct a nomogram to predict preterm birth rates for patients undergoing IVF cycles. This nomogram can provide a visual assessment of the risk of preterm birth for clinical consultation.

In recent years, fluoride pollution in water is a problem that has attracted much attention from researchers. The removal of fluoride-containing wastewater by adsorption with metal oxide as an adsorbent is the most common treatment method. Based on this, the effect of the doping ratio of La2O3, Fe2O3, and Al2O3 on the fluoride-removal performance was discussed by constructing a phase diagram. In this study, the adsorption mechanism of nanocrystalline lanthanum oxide terpolymer was investigated by density functional theory calculation and experiment. The optimal pH condition selected in the experiment was three, and the adsorption kinetics of fluoride ions were more consistent with the quasi-second-order kinetic model. The adsorption thermodynamics was more consistent with the Langmuir model. When the La-Fe-Al ternary composite oxides achieved the optimal adsorption efficiency for fluoride ions, the mass synthesis ratio was Al2O3:(Fe2O3:La2O3 = 1:2) = 1:100, resulting in a fluoride ion removal rate of up to 99.78%. Density functional calculations revealed that the La-Fe-Al ternary composite oxides had three important adsorption sites for La, Fe, and Al. Among them, the adsorption capacity for HF was Fe2O3 > La2O3 > Al2O3, and for F− was La2O3 > Al2O3 > Fe2O3. This provided good guidance for designing adsorbents to remove fluoride.

ObjectiveChromosomal 1q21.1 deletions and duplications are genomic disorders that are usually diagnosed postnatally. However, the genotype–phenotype correlations of 1q21.1 copy number variants (CNVs) during the prenatal period are still not clear. This study aimed to provide a systematic summary of prenatal phenotypes for such genomic disorders.MethodsIn total, 26 prenatal amniotic fluid samples diagnosed with 1q21.1 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed for all cases simultaneously. The pregnancy outcomes and health conditions after birth in all cases were followed up. Meanwhile, prenatal cases with 1q21.1 microdeletions or microduplications in the literature were retrospectively collected.ResultsIn total, 11 pregnancies (11/8,252, 0.13%) with 1q21.1 microdeletions and 15 (15/8,252, 0.18%) with 1q21.1 microduplications were identified. Among these 1q21.1 CNVs, 4 cases covered the thrombocytopenia-absent radius (TAR) region, 16 cases covered the 1q21.1 recurrent microdeletion/microduplication region, and 6 cases covered all regions mentioned above. The prenatal abnormal ultrasound findings were recorded in four participants with 1q21.1 deletions and seven participants with 1q21.1 duplications. Finally, three cases with 1q21.1 deletions and five with 1q21.1 duplications terminated their pregnancies.ConclusionIn the prenatal setting, 1q21.1 microdeletions were associated with increased nuchal translucency (NT), anomalies of the urinary system, and cardiovascular abnormalities, while 1q21.1 microduplications were correlated with cardiovascular malformations, nasal bone dysplasia, and increased NT. In addition, cerebral ventriculomegaly might be correlated with 1q21.1 microduplications. Considering the variable expressivity and incomplete penetrance of 1q21.1 CNVs, long-term follow-up after birth should be carried out in these cases.

Objective This study aimed to compare the effects of two brands of commercial vitrification carriers on pregnancy outcomes in freeze–thaw cycles. Methods We included 4871 patients who underwent a “freeze all” strategy using the commercial carriers J.Y. straw and OYASHIPS straw in the Reproductive Center of the First Hospital of Jilin University. The pregnancy outcomes of cleavage-stage embryos and blastocysts were studied separately. Detailed data and the safety of children born from mothers with the two types of carriers were also compared. Results Patients who used J.Y. straw had similar clinical pregnancy and live birth rates with one and two cleavage-stage embryo transplantation to those who used OYASHIPS straw. In patients who had blastocyst transplantation, the clinical pregnancy rate of one blastocyst transplanted in those who used OYASHIPS straw was significantly higher than that in those who used J.Y. straw (57.85% vs 47.09%). Among children born from mothers who used J.Y. straw, the congenital disability rate was significantly higher than that in those with OYASHIPS straw. Conclusion The OYASHIPS straw carrier is cheap and can achieve clinical pregnancy and live birth outcomes comparable to those of J.Y. straw. Therefore, OYASHIPS straw is a good alternative option.

Abstract The development of low‐cost RE‐Fe‐B sintered magnets with large La/Ce content is of great significance for the balanced utilization of rare earth (RE) resources, but it is limited by reduced magnetic properties. In this work, the coercivity (Hcj), remanence (Br), maximum energy product [(BH)max], and temperature stability are simultaneously enhanced for magnets with LaCe accounting for 40 wt% of the total RE. The synergistic regulation of the REFe2 phase, Ce‐valence, and grain boundaries (GBs) in RE‐Fe‐B sintered magnets is realized for the first time by introducing appropriate La elements. The La elements inhibit the generation of the REFe2 phase and tend to stay in the triple junctions, promoting the segregation of the RE/Cu/Ga elements and contributing to the formation of Ce/Nd/Cu/Ga‐rich continuous thicker lamellar GBs, and as a result, weakening the detrimental effect on HA caused by La element substitution and enhancing Hcj. In addition, partial La atoms entering the RE2Fe14B phase are beneficial for improving the Br and temperature stability of the magnets and promoting the Ce3+ ion ratio, which also provides additional benefit for Br. The findings provide an effective and feasible way to co‐enhance the remanence and coercivity of RE‐Fe‐B sintered magnets with high Ce content.

Abstract Background This study aimed to explore the incidence and influencing factors for early pregnancy loss (EPL) in infertility patients with first pregnancy undergoing in vitro fertilization (IVF) embryo transfer cycles in Jilin province, China. Methods A retrospective study of 2709 first pregnancy embryo transfer cycles collected from January 2016 to January 2021 was performed. The cycles were divided into the EPL group (n = 411) and the live birth group (n = 2298) according to the cycle outcomes. Results The EPL rate of the first-time pregnancies for infertility patients undergoing fresh/frozen-thaw embryo transfer cycle was 14.1%. Female patients aged 40 and older had increased odds of EPL compared to those under 35 (OR = 3.97, 95%CI: 2.80–7.55). Female patients with a body mass index (BMI) of 25 or greater were more likely to have EPLs than those in the normal BMI range (OR = 1.32, 95%CI: 1.03–1.70). The odds of EPL after frozen-thaw embryo transfer were higher than those after fresh embryo transfer (OR = 1.59, 95%CI: 1.11–2.27). A thin endometrium on the day of embryo transfer increased the odds of EPL (OR = 1.84, 95%CI: 1.01–3.33). Transferring more than two embryos had lower odds of EPL than single-embryo transfer (OR = 0.67, 95%CI: 0.50–0.90). Compared with other infertility diagnoses, tubal factor alone was associated with lower odds of EPL (OR = 0.72, 95%CI: 0.53–0.98). Conclusions The risk factors for EPL were age 40 and older, obesity, frozen-thaw cycle, thin endometrium, and non-isolated tubal factor.

Objective: Chromosome 16p11.2 deletions have been recognized as a genetic disorder with well-described postnatal phenotypes. However, the prenatal manifestations are atypical for lacking of enough evidence. Case report: Four pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of various indications for prenatal diagnosis: prenatal ultrasound abnormalities (cases 1, 2 and 4) and the childbearing history of cerebral palsy child (case 3). No overlapping phenotypes were observed in cases 1, 2 and 4, which might indicate phenotypic diversities in prenatal phenotypes for 16p11.2 microdeletion. All four fetuses showed normal karyotypic results while CMA identified 0.303–0.916 Mb microdeletions of 16p11.2, encompassing BP2–BP3 and BP4–BP5 regions separately. According to the parental CMA verification, case 1 carried a maternal inherited duplication in the region of Xp22.33 and a de novo deletion in the region of Xp21.1. All parents opted for the termination of pregnancies based upon genetic counselling. Conclusion: Our findings enriched the intrauterine phenotypic features of 16p11.2 microdeletions, which would be beneficial for genetic counselling in clinic. In addition, preimplantation genetic testing was recognized as a first-tier approach for such carriers if they intended to conceive again.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3q44 deletion and 8q24.3 duplication in a fetus with single umbilical artery and ventricular septal defects, and we discuss the genotype–phenotype correlation. Case report: Here, we describe a fetus with abnormal sonography findings showing a single umbilical artery and ventricular septal defects. Conventional karyotyping initially described the fetus as 46,XX,1q? and molecular cytogenetic analysis (CMA) revealed a 13-Mb deletion and 4.6-Mb duplication of regions 1q42.3q44 and 8q24.3, respectively. The father's karyotype was 46,XY. The mother's karyotype was 46,XX,t(1;8)(q42;q24). Therefore, the karyotype of the fetus was identified as 46,XX,der(1)t(1;8)(q42;q24) mat. After genetic counseling, the couple chose to terminate the pregnancy. We suggest that the ACTN2, RYR2 and PUF60 genes may be responsible for the ultrasound abnormalities observed in the fetus. Conclusion: To the best of our knowledge, this is the first report of a 1q deletion and 8q duplication identified by prenatal detection. The application of karyotype analysis and CMA provides more accurate characterization for unidentified chromosomal anomalies, and benefits appropriate genetic counseling in the clinic.

Rice false smut (RFS) is a late-onset fungal disease that primarily affects rice panicle in recent years. Severe RFS can decrease the yield by 20–30% and severely affect rice quality. This research used hyperspectral remote sensing data from unmanned aerial vehicles (UAV). On the basis of genetic algorithm combined with partial least squares to select the feature bands, this paper creates a new method to use the Pearson correlation coefficient method and Instability Index between Classes (ISIC) method to further select characteristic bands, which further eliminated 27.78% of the feature bands when the model monitoring accuracy was improved overall. The prediction accuracy of the Gradient Boosting Decision Tree model and Random Forest model was the best, which were 85.62% and 84.10%, respectively, and the monitoring accuracy was improved by 2.22% and 2.4% compared with that before optimization. Then, based on the UAV hyperspectral data and the combination of characteristic bands selected by the three band optimization methods, the sensitive band ranges of rice false smut monitoring were determined, which were 698–800 nm and 974–997 nm. This paper provides an effective method of selecting characteristic bands of hyperspectral data and a method of monitoring crop diseases’ using unmanned aerial vehicles.

Abstract. Trisomy 6q is a recognizable syndrome which exhibits psychomotor/growth retardation, developmental/intellectual disabilities, feeding difficulties, facial dysmorphism, hearing loss, brain and heart malformations. The purpose of this study was to delineate the prenatal features of proximal 6q14.1 duplication in fetal period, which was rarely reported in clinic. Eight pregnant women who opted for amniocentesis due to the fetal ultrasound abnormalities, maternal serum screening or other indications for prenatal diagnosis between 2019 and 2020. Chromosomal microarray analysis and G-banding analysis were offered after informed consents were obtained. Cytogenetic prenatal investigation showed all fetuses presented normal karyotypes except case 4 exhibiting a balanced chromosomal translocation 46,XX,t (4;8)(p16;q24). The chromosomal microarray analysis detected 0.211–0.242 Mb duplications of 6q14.1 (chr6: 80109532–80351666, hg19) in all 8 cases, encompassing the morbid gene LCA5 in common. Seven pregnant women (P1-P7) continued their pregnancies and delivered healthy infants at term while the parents of case 8 opted for termination of pregnancy for severe abnormal ultrasound findings. Overall, all neonates were in a good healthy condition with no evident anomalies, ranging from 2 m to 16 m. It is proposed that 6q14.1 duplication involving LCA5 gene detected in our study might be variants of likely benign. However, further large-scale studies should be gathered to assess its pathogenicity. To our knowledge, our study is the first report focusing on prenatally detected proximal 6q14.1 duplication, accompanied by detailed clinic phenotypes. Diverse ultrasound findings were observed in these cases, ranging from normal to abnormal. More evidence should be gathered to interpret the prenatal genotype-phenotype correlation of 6q14.1 duplication. For these cases with 6q14.1 microduplication, long term follow up should be carried out in case abnormal clinical symptoms or developmental-behavioral disorders emerge.

Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown.Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study and parental–proband trio linkage analysis were performed.Materials: A total of 133 patients with clinicopathological NOA and 343 fertile controls were recruited from a single large academic fertility center located in Northeast China; in addition, eleven trio families were available and enrolled.Results: Whole exome sequencing-based rare variant association study between the cases and controls was performed using the gene burden association testing. Linkage analysis on the trio families was also interrogated. In total, 648 genes were identified to be associated with NOA (three of which were previously reported), out of which six novel genes were found further associated based on the linkage analysis in the trio families, and involved in the meiosis-related network.Discussion and Conclusion: The six currently identified genes potentially account for a fraction (3.76%, 5 out of 133 patients) of the heritability of unidentified NOA, and combining the six novel genes and the three previously reported genes together would potentially account for an overall 6.77% (9 out of 133 patients) heritability of unidentified NOA in this study.

Nanocomposite magnets have attracted much attention because of their ultra-high theoretical magnetic energy product and saving rare earth resources. In this study, the Fe93.5Si6.5 with higher hardness than the most common soft magnetic phase (α-Fe) was used to synthesize SmCo5/Fe-Si nanocomposite magnets, and its nanosized process was studied. The results showed that Fe-Si can be well dispersed into SmCo5 matrix through 12 hours of ball milling, and appeared in fine and evenly distributed grains in the SmCo5/Fe-Si nanocomposites, indicating it is suitable for soft magnetic phase. The nanosized process of Fe-Si phase can be summarized as from the irregular shape of agglomeration, to long chain, and finally too uniformly dispersed Fe-Si particles with increased milling time. As a result, the SmCo5/Fe-Si nanocomposite magnet with the optimal maximum magnetic energy product was 14.3 MGOe, accompanied by remanence of 9.5 kG and coercivity of 8.2 kOe. Our results show that by using Fe-Si with high hardness as the soft magnetic phase, the prepared nanocomposite magnet not only has good properties, but also can be expected that the two phases with closer mechanical properties can be deformed harmoniously.

Abstract Background The aim of this study was to determine the secondary sex ratio (SSR) of offspring in assisted reproduction technology (ART) in Jilin Province, China, and to analyse the influencing factors associated with SSR. Methods A cross-sectional study of 3833 babies including singletons and twins born to 2990 couples treated by ART between May 2011 and December 2018 was performed. Results The main outcomes of this study were that the SSR of ART babies in Jilin Province was 50.64% and the SSR was associated with fertilization methods (p

As one of the important coastal cities in China, Tianjin has been urbanized dramatically over the past 40 years, and the urbanization rate has been up to 83.15% by 2018. In this study, we used the continuous change detection and classification algorithm to comprehensively understand the urban expansion processes in Tianjin based on the Landsat time series from 1985 to 2018 with 30-m resolution. Specially, we applied the c-factor approach with the Ross Thick-LiSparse-R model to correct the bidirectional reflectance distribution function (BRDF) effect for each Landsat image and calculated a spatial line density feature for improving the change detection and the classification. Based on the study in Tianjin, we found that BRDF correction can substantially improve the change detection (9.00% higher overall accuracy) and classification (1.08% higher overall accuracy); and the line density is also beneficial to classification (0.48% higher overall accuracy), especially for impervious surface (1.70% less commission errors and 1.49 % less omission errors). By analyzing the imperious surface change processes, we observed that Tianjin has undergone rapid urban expansion in the past decades, and the urban area was mainly transformed from cropland around the central area before 2005 and later from the coast.

Forest fires can destroy forest and inflict great damage to the ecosystem. Fortunately, forest fire detection with video has achieved remarkable results in enabling timely and accurate fire warnings. However, the traditional forest fire detection method relies heavily on artificially designed features; CNN-based methods require a large number of parameters. In addition, forest fire detection is easily disturbed by fog. To solve these issues, a lightweight YOLOX-L and defogging algorithm-based forest fire detection method, GXLD, is proposed. GXLD uses the dark channel prior to defog the image to obtain a fog-free image. After the lightweight improvement of YOLOX-L by GhostNet, depth separable convolution, and SENet, we obtain the YOLOX-L-Light and use it to detect the forest fire in the fog-free image. To evaluate the performance of YOLOX-L-Light and GXLD, mean average precision (mAP) was used to evaluate the detection accuracy, and network parameters were used to evaluate the lightweight effect. Experiments on our forest fire dataset show that the number of the parameters of YOLOX-L-Light decreased by 92.6%, and the mAP increased by 1.96%. The mAP of GXLD is 87.47%, which is 2.46% higher than that of YOLOX-L; and the average fps of GXLD is 26.33 when the input image size is 1280 × 720. Even in a foggy environment, the GXLD can detect a forest fire in real time with a high accuracy, target confidence, and target integrity. This research proposes a lightweight forest fire detection method (GXLD) with fog removal. Therefore, GXLD can detect a forest fire with a high accuracy in real time. The proposed GXLD has the advantages of defogging, a high target confidence, and a high target integrity, which makes it more suitable for the development of a modern forest fire video detection system.

Abstract Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular genetic techniques. Case presentation We identified eight azoospermic 46,XX males who underwent infertility-related consultations at our center. They all presented normal male phenotypes. In seven of the eight 46,XX males (87.5%), translocation of the SRY gene to the terminal short arm of the X chromosome was clearly involved in their condition, which illustrated that this translocation is the main mechanism of 46,XX sex reversal, in line with previous reports. However, one patient presented a homozygous DAX1 mutation (c.498G > A, p.R166R), which was not previously reported in SRY-negative XX males. Conclusions We proposed that this synonymous DAX1 mutation in case 8 might not be associated with the activation of the male sex-determining pathway, and the male phenotype in this case might be regulated by some unidentified genetic or environmental factors. Hence, the detection of genetic variations associated with sex reversal in critical sex-determining genes should be recommended for SRY-negative XX males. Only after comprehensive cytogenetic and molecular genetic analyses can genetic counseling be offered to 46,XX males.

Based on 3D seismic data, the evolution mechanism and characteristics of faults were investigated to reveal the structural origin and its control on differential hydrocarbon accumulation through comprehensive analyses, including structure style analysis, fault activity analysis, analogue modelling and comparison among the wells. The complex fault system with differently trending faults resulted from strike-slip and rifting in Paleogene was partly activated, developed successively and stretched obliquely by the near-NS extensional stress field in Neogene. In the area little affected by pre-existing faults, new faults nearly perpendicular to the extension direction developed. The structural development in the study area was not caused by transpressional strike slip. Under the oblique extension effect of pre-existing faults, if the angle between the strike of pre-existing fault and the extensional direction is different, the strike-slip and extensional stresses are different in ratio. The larger the angle between the two is, the stronger the extensional component, the poorer the sealing ability of the fault, and the stronger the oil and gas migration capacity will be. Conversely, the smaller the angle between the two is, the stronger the strike-slip component, the better the sealing ability of the fault, and the poorer the oil and gas migration capacity will be. The accumulation condition analysis results considering the fault trend are in good agreement with the oil and gas shows in wells drilled in this area. Key words: oblique extension, pre-existing faults, strike-slip component, extension component, Paleogene, Neogene, Bohai Sea

Down syndrome (DS) caused by the presence of part or all of a third copy of chromosome 21 is the most common form of aneuploidy. The prenatal screening for DS is a key component of antenatal care and is recommended to be universally offered to women irrespective of age or background. The objective of this paper is to introduce a noninvasive and accurate diagnosis procedure for DS and to minimize social and financial cost of prenatal diagnosis. Recently, machine learning has received considerable attention in predictive analytics for medical problems. However, there is few its applications on DS prediction reported due to the difficulty of dealing with highly imbalanced and feature-correlated screening data. In this paper, we propose a cascaded machine learning framework designed for DS prediction based on three complementary stages: 1) pre-judgment with isolation forest technique, 2) model ensemble by voting strategy, and 3) final judgment using logistic regression approach. The experimental results show that the performance of this framework on maternal serum screening data set, when evaluated with different evaluation parameters, is superior to those of some machine learning methods. The best suggested combination of input features for DS screening is the group of alpha-fetoprotein, human chorionic gonadotropin, unconjugated estriol, and maternal age. In addition, our method has the potential to generate further accurate prediction for imbalanced and feature-correlated data, thereby providing a novel and effective approach for certain diseases analysis.

The spatial pattern and temporal variation in paddy rice areas captured by remote sensing imagery provide an effective way of performing crop management and developing suitable agricultural policies. However, fragmented and scattered rice paddies due to undulating and varied topography, and the availability and quality of remote sensing images (e.g., frequent cloud coverage) pose significant challenges to accurate long-term rice mapping, especially for traditional pixel and phenological methods in subtropical monsoon regions. This study proposed a superpixel and deep-learning-based time series method to analyze Landsat time series data for paddy rice classification in complex landscape regions. First, a superpixel segmentation map was generated using a dynamic-time-warping-based simple non-iterative clustering algorithm with preprocessed spectral indices (SIs) time series data. Second, the SI images were overlaid onto the superpixel map to construct mean SIs time series for each superpixel. Third, a multivariate long short-term memory full convolution neural network (MLSTM-FCN) classifier was employed to learn time series features of rice paddies to produce accurate paddy rice maps. The method was evaluated using Landsat imagery from 2000 to 2020 in Cengong County, Guizhou Province, China. Results indicate that the superpixel MLSTM-FCN achieved a high performance with an overall accuracy varying from 0.9547 to 0.9721, which presents an 0.17–1.23% improvement compared to the random forest method. This study showed that combining spectral, spatial, and temporal features with deep learning methods can generate accurate paddy rice maps in complex landscape regions.

The studies on microplastics are significant in the world. According to the literature, microplastics have greatly specific surface areas, indicating high adsorption capacities for highly toxic pollutants in aquatic and soil environments, and these could be used as adsorbents. The influencing factors of microplastic adsorption, classification of microplastics, and adsorption mechanisms using microplastics for adsorbing organic, inorganic, and mixed pollutants are summarized in the paper. Furthermore, the influence of pH, temperature, functional groups, aging, and other factors related to the adsorption performances of plastics are discussed in detail. We found that microplastics have greater advantages in efficient adsorption performance and cost-effectiveness. In this paper, the adsorptions of pollutants by microplastics and their performance is proposed, which provides significant guidance for future research in this field.

Exchange-coupled magnets are promising candidates for a new generation of permanent magnets. Here, we investigated the effect of soft magnetic shell thickness and the aspect ratio of the hard magnetic core on the magnetic properties for isolated core/shell cylinder exchange-coupled magnets, as well as the packing effect of the cylindrical array via a micromagnetic simulation method. It was found that the shape anisotropy contributions to the magnetic properties in the cylindrical core/shell exchange-coupled magnets are closely related to the thickness of the soft magnetic shell. When the soft magnetic shell is thin, the magnetic properties are dominated by the hard–soft exchange coupling effects, and the contributions of shape anisotropy are quite limited. When the soft magnetic shell is relatively thick, utilizing shape anisotropy would be an effective method to improve the magnetic performance of hard–soft exchange-coupled magnets. The present work provides an in-depth fundamental understanding of the underlying magnetization reversal mechanism. This work could be useful for designing high-performance permanent magnets and avoiding pitfalls.

Constructing ingenious microstructures, such as core–shell, laminate, microcapsule and porous microstructures, is an efficient strategy for tuning the combustion behaviors and thermal stability of energetic materials (EMs). Electrohydrodynamic atomization (EHDA), which includes electrospray and electrospinning, is a facile and versatile technique that can be used to process bulk materials into particles, fibers, films and three-dimensional (3D) structures with nanoscale feature sizes. However, the application of EHDA in preparing EMs is still in its initial development. This review summarizes the progress of research on EMs prepared by EHDA over the last decade. The morphology and internal structure of the produced materials can be easily altered by varying the operation and precursor parameters. The prepared EMs composed of zero-dimensional (0D) particles, one-dimensional (1D) fibers and two-dimensional (2D) films possess precise microstructures with large surface areas, uniformly dispersed components and narrow size distributions and show superior energy release rates and combustion performances. We also explore the reasons why the fabrication of 3D EM structures by EHDA is still lacking. Finally, we discuss development challenges that impede this field from moving out of the laboratory and into practical application.

Abstract Background Isolated hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare genetic diseases that cause male infertility. The chromodomain helicase DNA‐binding protein 7 (CHD7) gene is commonly associated with KS and IHH. We speculated that CHD7 variants may be associated with male infertility. Methods Two hundred males with azoospermia and 120 with oligozoospermia were recruited. The patients underwent clinical examination and reproductive hormone testing. A panel of genes including CHD7 and others related to spermatogenic failure was sequenced by targeted‐gene exome sequencing. Results Three patients with severe oligozoospermia had CHD7 variants (a detection rate of 0.94% (3/320)). After prediction software analysis, two of the variants c.3464G>A (p.R1155H) and c.4516G>A (p.G1506S) were predicted to be likely pathogenic. Although predicted to be benign, the variants of c.2824A>G (p.T942A) located in the chromodomain 2 could not be excluded as disease causing. The patients with variants had small testicular volumes. In particular, the testes of the patient with a p.G1506S variant varied in size (left, 8 ml; right, 4.5 ml). Two patients (patients 31 and 120) had low E2 levels and two (patients 83 and 120) had low T levels. Ultimately, these variants were classified as “variants of unknown significant” that may be associated with male infertility. Conclusions There may be a relationship between the CHD7 gene missense variants and male infertility. These variants are easier to find in patients with azoospermia and severe oligospermia whose testosterone levels are decreased.

The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.

Rice false smut (RFS), caused by Ustilaginoidea virens, is a significant grain disease in rice that can lead to reduced yield and quality. In order to obtain spatiotemporal change information, multitemporal hyperspectral UAV data were used in this study to determine the sensitive wavebands for RFS identification, 665–685 and 705–880 nm. Then, two methods were used for the extraction of rice false smut-infected areas, one based on spectral similarity analysis and one based on spectral and temporal characteristics. The final overall accuracy of the two methods was 74.23 and 85.19%, respectively, showing that the second method had better prediction accuracy. In addition, the classification results of the two methods show that the areas of rice false smut infection had an expanding trend over time, which is consistent with the natural development law of rice false smut, and also shows the scientific nature of the two methods.

Fluoride is an important pollutant in many countries, such as China, India, Australia, the United States, Ethiopia, etc [...]

Abstract Neutron powder diffraction patterns measured above T C have been used to determine the location of the excess Mn in MnxGa (1.15 ≤ x ≤ 1.8). This information has then been used to constrain the fits to neutron powder diffraction patterns measured at ambient temperature and so determine unambiguously the Mn moments in this system. We find that Mn randomly occupies the two Ga sites (2a and 2b) in the I4/mmm structure and propose that it is more appropriate to use a simpler structure based on the P4/mmm space group with a reduced unit cell. In this structure the two Ga sites are formally equivalent (they occupy the 1a site while Mn occupies the 1d site). Our experimental observations are supported by DFT calculations. Below T C we find that the Mn(1d) moment is constant at 2.45(3) μ B , while Mn on the 1a site carries a slightly larger moment (~3 μ B ) that is coupled antiparallel to the Mn(1d) moments, leading to the observed drop in magnetisation with increasing Mn content in MnxGa.

Objective This study aimed to assess the value of measuring the tubule diameter during microdissection testicular sperm extraction (micro-TESE) in predicting outcomes in patients with Sertoli cell-only syndrome (SCOS). Methods Fifty-six consecutive patients with SCOS were included. Patients were classified into two groups on the basis of the diameter of seminiferous tubules measured against 5/0 surgical suture (≥100 µm or

Male infertility is a complex multifactorial disease affecting approximately 10% of couples who want to have children. Some cases of infertility can be explained by genetic factors. Septins are members of the GTPase superfamily, which are involved in diverse biological processes including morphogenesis, compartmentalization, cytokinesis, and apoptosis. The septin 12 gene, SEPT12 , is expressed exclusively in post-meiotic male germ cells and is considered as a critical gene for spermatogenesis. In this study, we evaluated 200 patients with non-obstructive azoospermia and detected mutations of 25 spermatogenesis-associated genes by targeted exome sequencing. We report a missense SEPT12 variant, c.673C>A/p.Gln225Lys, in an infertile man with non-obstructive azoospermia. The variation was located inside the GTPase domain and had a SIFT score of 0.02 (

Objective To report a case of abortion after intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa obtained from a man with mosaic Klinefelter’s syndrome. Methods Sperm nuclei from the patient were analyzed by fluorescence in situ hybridization, and the disomy frequencies for chromosome 18 and the sex chromosomes were determined. A literature review of the ICSI outcome of ejaculated sperm in patients with Klinefelter’s syndrome was also performed. Results A total of 108 spermatozoa nuclei were analyzed. Of these, 102 sperm cells were normal with an X18 (55.56%) or Y18 (38.89%) chromosome pattern. Three cells with XX18 (2.78%) and three cells with YY18 (2.78%) signals were detected. The fetus stopped developing in the eighth week. The karyotype determined by an analysis of the abortive tissue was 46, XY. The literature review identified a total of 12 patients who were analyzed in 11 reports. The fertilization rate was 80.9%, and the live birth rate per transfer was 71.4%. Conclusions ICSI with ejaculated spermatozoa from men with Klinefelter’s syndrome can lead to pregnancy, for which the risk of transmission of chromosomal aneuploidy is low.

In the present study, bulk anisotropic nanocrystalline SmCo5 magnets were prepared by hot press and subsequent hot deformation method. Effect of phase composition on texture and magnetic properties are presented, based on which the mechanism of plastic deformation and texture formation during the hot deformation process is discussed. The SmCo5 magnets were prepared by hot deformation, excessive Sm of 2.5 wt% and 10 wt% was added to compensate the weight loss due to Sm evaporation. Our analyses reveal that the phase composition is one of the most important parameters that determine the texture of SmCo5 magnets. It is therefore suggested that the existence of 2:17 phase and its phase transformation undermined the crystal texture formation as well as the magnetic properties of nanocrystalline SmCo5 magnets.

Singular point detection (SPD) for the determination of the anisotropy field (BA) using a conventional magnetometer is demonstrated. We then follow the composition dependence of BA in MnxGa using a combination of SPD measurements complemented by first-principles density functional theory (DFT) calculations. We find excellent quantitative agreement for 1.2≤x≤ 1.8, but observe a marked departure for x≤1.2. We suggest that the deviation from ideal behaviour might be associated with site disorder at low excess Mn.

The release of heavy metals and metalloids (HMs), including Pb, Zn, Cd, As, and Cu, from two typical contaminated soils with different properties, namely red soil and limestone-dominated soil, was characterized through simulated-rainfall experiments in order to investigate the effects of soil properties on HM release. Significant differences in the HM concentrations between the two soils resulted in various concentrations of dissolved and particulate HMs in the runoff. Differences in the dissolved HM concentrations in the runoff were inconsistent with the HM concentrations in the soils, which is attributed to the variable solubilities of HMs in the two soils. However, the HM enrichment ratios were not significantly different. The strong correlation between dissolved organic carbon and dissolved HMs in the runoff, and between the total organic carbon and particulate HMs in sediments, were observed, especially in the limestone-dominated soil. The specific surface area and HM concentrations in sediments were weakly correlated. Acid-rainfall experiments showed that only the limestone-dominated soil buffered the effects of acid rain on the runoff; the concentrations of dissolved Pb, Zn, Cd, and Cu increased in the red soil under acid rainfall and were 60, 29, 25, and 19 times higher, respectively, than under the neutral conditions. The results contribute to the understanding of HM behavior in the two typical soils in southern China, exposed to frequent storms that are often dominated by acid rainfall.

Room temperature neutron powder diffraction has been used to investigate the chemical structure and magnetic ordering of a series of tetragonal (I4/mmm #139) MnxGa (1.15 ≤ x ≤ 2.0) alloys. Initially (x < 1.5) the excess Mn goes on the 2b site with vacancies appearing at the 2a site. For x > 1.5 Mn also appears on the 2a site. The manganese atoms on the 4d site carry an almost constant moment of 2.16(6) μB/Mn. The loss of magnetisation seen with increasing Mn content is shown to be the result of large (∼3 μB/Mn), antiparallel Mn moments on the 2b, and later 2a sites, and not to a reduction of the Mn moment on the 4d sites.

Fire Spread Rate (FSR) can indicate how fast a fire is spreading, which is especially helpful for wildfire rescue and management. Historically, images obtained from sun-orbiting satellites such as Moderate Resolution Imaging Spectroradiometer (MODIS) were used to detect active fire and burned area at the large spatial scale. However, the daily revisit cycles make them inherently unable to extract FSR in near real­-time (hourly or less). We argue that the Himawari-8, a next generation geostationary satellite with a 10-min temporal resolution and 0.5–2 km spatial resolution, may have the potential for near real-time FSR extraction. To that end, we propose a novel method (named H8-FSR) for near real-time FSR extraction based on the Himawari-8 data. The method first defines the centroid of the burned area as the fire center and then the near real-time FSR is extracted by timely computing the movement rate of the fire center. As a case study, the method was applied to the Esperance bushfire that broke out on 17 November, 2015, in Western Australia. Compared with the estimated FSR using the Commonwealth Scientific and Industrial Research Organization (CSIRO) Grassland Fire Spread (GFS) model, H8-FSR achieved favorable performance with a coefficient of determination (R2) of 0.54, mean bias error of –0.75 m/s, mean absolute percent error of 33.20% and root mean square error of 1.17 m/s, respectively. These results demonstrated that the Himawari-8 data are valuable for near real-time FSR extraction, and also suggested that the proposed method could be potentially applicable to other next generation geostationary satellite data.

ABSTRACT Objective: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials and Methods: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were analyzed. Results: Of the 82 translocation carriers, 9 (11%) were carriers of a chromosome 2 translocation. Four cases had oligozoospermia or infertility, while five had normal semen. In an analysis of the literature, 55 patients who were carriers of chromosome 2 translocations were also reviewed. Breakpoints at 2p13 and 2q31 were observed in six patients each, and were the most common. Breakpoints at 2p23, 2p13, 2p11.2, 2q31, and 2q37 were associated to both pre-gestational and gestational infertility, while other breakpoints were associated with gestational infertility. Conclusions: All breakpoints at chromosome 2 were correlated with gestational infertility. Carriers of chromosome 2 translocations should therefore receive counseling to continue with natural conception and use of different technologies available via assisted reproductive technology, such as preimplantation genetic diagnosis.