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Purpose: The preimplantation genetic testing for aneuploidy (PGT-A) platform is not currently available for small copy-number variants (CNVs), especially those < 1 Mb. Through strategies used in PGT for monogenic disease (PGT-M), this study intended to perform PGT for families with small pathogenic CNVs. Methods: Couples who carried small pathogenic CNVs and underwent PGT at the Reproductive and Genetic Hospital of CITIC-Xiangya (Hunan, China) between November 2019 and April 2023 were included in this study. Haplotype analysis was performed through two platforms (targeted sequencing and whole-genome arrays) to identify the unaffected embryos, which were subjected to transplantation. Prenatal diagnosis using amniotic fluid was performed during 18–20 weeks of pregnancy. Results: PGT was successfully performed for 20 small CNVs (15 microdeletions and 5 microduplications) in 20 families. These CNVs distributed on chromosomes 1, 2, 6, 7, 13, 15, 16, and X with sizes ranging from 57 to 2120 kb. Three haplotyping-based PGT-M strategies were applied. A total of 89 embryos were identified in 25 PGT cycles for the 20 families. The diagnostic yield was 98.9% (88/89). Nineteen transfers were performed for 17 women, resulting in a 78.9% (15/19) clinical pregnancy rate after each transplantation. Of the nine women who had healthy babies, eight accepted prenatal diagnosis and the results showed no related pathogenic CNVs. Conclusion: Our results show that the extended haplotyping-based PGT-M strategy application for small pathogenic CNVs compensated for the insufficient resolution of PGT-A. These three PGT-M strategies could be applied to couples with small pathogenic CNVs. [ABSTRACT FROM AUTHOR]

The Yanchang gas field is located in the Ordos Basin of central China to the southeast of the Yishan Slope, covers an exploration area of 2.6×10 km and has approximately 3.5×10 m of gas reserves. The gas field is dominated by lithologic gas reservoirs but also has a few structural gas reservoirs. Sand bodies were deposited in the Carboniferous Benxi Formation around offshore barrier islands and in distributary channel fillings in the delta front of the P s and P s divisions of the Permian Shanxi Formation. The P h division of the Shihezi Formation contains the main reservoirs. The depths of the reservoirs are between 1 970 and 3 500 m. The Yanchang gas field can be classified as a typical tight sandstone gas reservoir filed because its porosity is lower than 10% and permeability lower than 1 mD. The discovery and development of the Yanchang gas field has led to a great increase in total natural gas reserves in the Ordos Basin. Its exploration has improved methods of locating large gas fields in deep-water depositional environments in the south part of the basin. [ABSTRACT FROM AUTHOR]

As an extension of previous work in Wang et al. (Ocean Dyn 64:1447-1456, ), this article presents significant waveheights of swell inverted from a 13 month dataset of two high-frequency (HF) phased array radars. As an important intermediate variable in the calculation of significant waveheights, relative swell directions obtained by two different methods from a single radar station are also presented. The impact of the inaccuracy of relative swell direction on the calculation of waveheight is investigated and an alternative way of using constant swell direction is proposed. Radar-inverted swell significant waveheights using different ranges of relative swell directions are investigated. Results are assessed by WAVEWATCH III model hind casts. Analysis of the complete database shows that radar-inverted swell significant waveheights agree reasonably well with model estimates with large scatter. Standard deviation of the difference between the two estimations increases with waveheight, whereas the relative standard deviation, normalized by waveheight, keeps nearly constant. The constant direction scheme of waveheight inversion gives good estimations except for energetic swell exceeding the small perturbation assumption. Statistical analysis suggests that radar measurement uncertainty explains a considerable part of the difference between radar and model estimates. Swell estimates from both radar stations are consistent. This enables combined use of both radar spectra at common radar cells. Use of double spectra solves the ambiguity of relative swell direction, i.e., absolute swell direction is obtained, and effectively improves the accuracy of swell direction by the least-squares method. [ABSTRACT FROM AUTHOR]

This article presents long period ocean wave (swell) frequencies inverted from a 13-month dataset of high-frequency (HF) phased array radars and an assessment of these estimates by comparison with WAVEWATCH III model data. The method of swell frequency inversion from high-frequency radar sea echo Doppler spectra is described. Radar data were collected from a two-site HF Wellen Radar (WERA) radar system on the west coast of Brittany (France) operating at 12 MHz. A standard beam-forming processing technique has been used to obtain Doppler spectra of processed radar cells. Swell frequencies are obtained from the frequencies of particular spectral peaks of the second-order continuum in hourly averaged Doppler spectra. The data coverage of effective Doppler spectra considered for swell frequency estimates shows the influence of islands and shallow water effects. Swell estimates from both radar stations are in good agreement. The comparison of radar-derived results to WAVEWATCH III (WW3) estimates shows that radar measurements agree quite well with model results. The bias and standard deviation between two estimates are very small for swells with frequency less than 0.09 Hz (period >11 s), whereas radar estimates are generally lower than model estimates for shorter swells, along with higher standard deviation. Statistical analysis suggests that radar measurement uncertainty explains most of the difference between radar and model estimates. For each swell event, time series of frequency exhibits a quasi-linear frequency increase which is associated with the dispersive property of wave phase velocity. The use of swell frequency estimates from both radars on common radar cells only slightly increases the accuracy of swell frequency measurement. [ABSTRACT FROM AUTHOR]

Lipase has high economic importance and is widely used in biodiesel, food, detergents, cosmetics, and pharmaceutical industries. The rapid development of synthetic biology and system biology has not only paved the way for comprehensively understanding the efficient operation mechanism of Aspergillus niger cell factories but also introduced a new technological system for creating and optimizing high-efficiency A. niger cell factories. In this review, all relevant data on microbial lipase enzyme sources and general properties are gathered and updated. The relationship between A. niger strain morphology and protein production is discussed. The safety of A. niger strain is investigated to ensure product safety. The biotechnologies and factors influencing lipase expression in A. niger are summarized. This review focuses on various strategies to improve lipase expression in A. niger. The summary of these methods and the application of the gene editing technology CRISPR/Cas9 system can further improve the efficiency of constructing the engineered lipase-producing A. niger. [ABSTRACT FROM AUTHOR]

In this work, we synthesized K2Ti6O13 nanowires coated with sulfur-doped carbon for the first time, with fulvic acid and cystine as the carbon source, which exhibit higher capacity and rate performance compared with pure potassium titanate. Via analyzing the cyclic voltammetry curves obtained at different scan rates, it is revealed that the capacity increase is due to the improved ion diffusivity induced by the carbon coating. Moreover, cystine is demonstrated to be a better carbon source than fulvic acid. [ABSTRACT FROM AUTHOR]

Purpose: To identify the genetic cause of patients with primary ciliary dyskinesia (PCD) and male infertility from two unrelated Han Chinese families. Methods: We conducted whole-exome sequencing of three individuals with PCD and male infertility from two unrelated Chinese families, and performed a targeted look-up for DNAAF6 variants in our previously reported cohort of 442 individuals (219 with isolated oligoasthenospermia and 223 fertile controls). Ultrastructural and immunostaining analyses of patients' spermatozoa were performed. The pathogenicity of the variants was validated using patient's spermatozoa and HEK293T cells. Intracytoplasmic sperm injection (ICSI) treatment was conducted in two patients. Results: We identified one novel hemizygous frameshift variant (NM_173494, c.319_329del: p.R107fs) of DNAAF6 gene (previously named PIH1D3) in family 1 and one novel hemizygous missense variant (c.290G>T: p.G97V) in family 2. No hemizygous deleterious variants in DNAAF6 were detected in the control cohort of 442 individuals. Ultrastructural and immunostaining analyses of patients' spermatozoa showed the absence of outer and inner dynein arms in sperm flagella. Both variants were proven to lead to DNAAF6 protein degradation in HEK293T cells. Both patients carrying DNAAF6 variants underwent one ICSI cycle and delivered one healthy child each. Conclusion: We identified novel DNAAF6 variants causing male infertility and PCD in Han Chinese patients. This finding extended the spectrum of variants in DNAAF6 and revealed new light on the impact of DNAAF6 variants in sperm flagella. [ABSTRACT FROM AUTHOR]

Severe asthenozoospermia is a common cause of male infertility. Recent studies have revealed that SPEF2 mutations lead to multiple morphological abnormalities of the sperm flagella (MMAF) without primary ciliary dyskinesia (PCD) symptoms in males, but PCD phenotype was also found in one female individual. Therefore, whether there is a phenotypic continuum ranging from infertile patients with PCD to MMAF patients with no or low noise PCD manifestations remains elusive. Here, we performed whole-exome sequencing in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families. We identified four novel biallelic mutations in SPEF2 (8.9%, 4/45) in six affected individuals (12.8%, 6/47), while no deleterious biallelic variants in SPEF2 were detected in 637 controls, including 219 with oligoasthenospermia, 195 with non-obstructive azoospermia, and 223 fertile controls. Notably, all six patients exhibited PCD-like symptoms, including recurrent airway infections, bronchitis, and rhinosinusitis. Ultrastructural analysis revealed normal 9 + 2 axonemes of respiratory cilia but consistently abnormal 9 + 0 axoneme or disordered accessory structures of sperm flagella, indicating different roles of SPEF2 in sperm flagella and respiratory cilia. Subsequently, a Spef2 knockout mouse model was used to validate the PCD-like phenotype and male infertility, where the subfertility of female Spef2−/− mice was found unexpectedly. Overall, our data bridge the link between MMAF and PCD based on the association of SPEF2 mutations with both infertility and PCD in males and provide basis for further exploring the molecular mechanism of SPEF2 during spermiogenesis and ciliogenesis. [ABSTRACT FROM AUTHOR]

Our aim was to evaluate the pathogenic role of anti-neutrophil cytoplasmic antibodies (ANCAs) in patients with IgA nephropathy (IgAN). A total of 2390 patients with biopsy-confirmed IgAN were analyzed retrospectively. Thirty-five IgAN patients with ANCA and 40 IgAN patients without ANCA were enrolled. According to the Birmingham Vasculitis Activity Score (BVAS) items, the ANCA-positive patients were further divided into two subgroups which with or without systemic symptoms. The cumulative renal survival rate was calculated using Kaplan-Meier analysis. Comparisons between groups were made using the log rank test. Among the 35 ANCA-positive patients, 14 (40%) had systemic symptoms. Compared with ANCA-positive patients without systemic symptoms, ANCA-positive patients with systemic symptoms had a shorter duration of disease (1.0 [IQR, 0.3-6.8] vs. 6.0 [IQR, 2.0-21.0], P = 0.011); showed worse renal function with lower levels of eGFR (24.2 [IQR, 11.7-74.9] vs. 100.1 [IQR, 59.6-130.2] mL/min/1.73 m2, P = 0.002), serum albumin (30.4 [IQR, 27.4-34.8] vs. 41.5 [IQR, 35.1-44.4] g/L, P = 0.001), and hemoglobin (96.1 ± 21.5 vs. 118.2 ± 22.4 g/L, P = 0.006); and presented relatively higher incidences of rapidly deteriorating kidney function (28.6 vs. 0.0%, P = 0.039) and moderate-to-severe tubular atrophy (78.6 vs. 23.8%, P = 0.001). Kaplan-Meier analysis had shown that ANCA-positive patients with systemic symptoms had lower cumulative renal survival rate compared with both ANCA-positive patients without systemic symptoms and ANCA-negative patients (log rank = 14.40, P < 0.001). Evaluation of systemic symptoms is a simple, readily available clinical tool to predictive the pathogenic role of ANCA in IgAN. [ABSTRACT FROM AUTHOR]

One-dimensional CaMoO:RE (RE = Eu, Sm, Dy, Tb) nanofibers were successfully synthesized through a facile supersaturated recrystallization process. These CaMoO:Ln nanofibers have the length ranging from 40 to 70 nm and the width of nearly 2 nm. Under UV excitation, these single-doped CaMoO nanofibers shown stronger emission, and the photoluminescence quantum efficiency is 25.7% (CaMoO:Eu), 22.4% (CaMoO:Sm), 23.2% (CaMoO:Dy) and 27.7% (CaMoO:Tb), respectively. Moreover, our work reveals that various emission colors can be obtained and tuned from pure red to delight green via co-doping Tb and Eu in the CaMoO host, and the energy transfer properties from Tb to Eu are also demonstrated. Finally, we apply the green CaMoO:Tb, red CaMoO:Eu and white CaMoO:0.05Tb, 0.02Eu for LED devices, and these nanofiber-based LEDs present high efficiency and stability, which indicates the promising application in future optoelectronic fields. [ABSTRACT FROM AUTHOR]

Purpose: Posterior tibial slope that is created during proximal tibial resection in total knee arthroplasty has emerged as an important factor in the mechanics of the knee joint and the surgical outcome. But the ideal degree of posterior tibial slope for recovery of the knee joint function and preventions of complications remains controversial and should vary in different racial groups. The objective of this paper is to investigate the effects of posterior tibial slope on contact stresses in the tibial polyethylene component of total knee prostheses.Methods: Three-dimensional finite element analysis was used to calculate contact stresses in tibial polyethylene component of total knee prostheses subjected to a compressive load. The 3D finite element model of total knee prosthesis was constructed from the images produced by 3D scanning technology. Stresses in tibial polyethylene component were calculated with four different posterior tibial slopes (0°, 3°, 6° and 9°).Results: The 3D finite element model of total knee prosthesis we presented was well validated. We found that the stress distribution in the polythene as evaluated by the distributions of the von Mises stress, the maximum principle stress, the minimum principle stress and the Cpress were more uniform with 3° and 6° posterior tibial slopes than with 0° and 9° posterior tibial slopes. Moreover, the peaks of the above stresses and trends of changes with increasing degree of knee flexion were more ideal with 3° and 6° posterior slopes.Conclusions: The results suggested that the tibial component inclination might be favourable to 7°-10° so far as the stress distribution is concerned. The range of the tibial component inclination also can decrease the wear of polyethylene. Chinese posterior tibial slope is bigger than in the West, and the current domestic use of prostheses is imported from the West, so their demands to tilt back bone cutting can lead to shorten the service life of prostheses; this experiment result is of important clinical significance, guiding orthopaedic surgeon after the best angle to cut bone. [ABSTRACT FROM AUTHOR]

Alumina composites reinforced with multiwalled carbon nanotubes (MWCNTs) at up to 3.7 vol% are prepared by a precursor method followed by a spark plasma sintering. We systematically and quantitatively investigate the effects of acid-treatment time of the MWCNTs on not only bending strength and fracture toughness of the composites but also on the mechanical strength and dispersibility of the MWCNTs, the grain size of the alumina matrix, and the interfacial strength between MWCNT and alumina. The main objective of this study is to evaluate how these parameters influence the mechanical properties with the aid of multiple regression analysis. We demonstrate that the matrix grain size, the mechanical strength of the MWCNTs, and the interfacial strength have little impact on the mechanical properties for the composites prepared in this study. On the other hand, the dispersibility of MWCNTs has the significant influence on the mechanical properties. Both the dispersibility of the MWCNTs and the mechanical properties of the composites increase as the acid-treatment time increases up to 2 h at low MWCNT content (0.9 vol%). Conversely, at a higher amount of MWCNTs, the degradation in the mechanical properties is shown to be associated with the deterioration of MWCNTs' dispersibility. As MWCNT agglomerates are anticipated to act as imperfections, they may override the effects of the strength of MWCNTs, matrix grain size, and interfacial strength. By means of the multiple regression analysis, we quantitatively show that improving MWCNTs' dispersibility is one of the most important factors in enhancing the mechanical properties of MWCNT/alumina composites. [ABSTRACT FROM AUTHOR]