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Currently, wide‐color gamut perovskite light‐emitting diodes (PeLEDs) are commonly controlled through halide composition tuning. However, the formation of perovskite crystals involving different ion radii of halogens often results in structural fragility and ionic defects, leading to emission instability during operation. This study showcases a novel approach to achieving a homogeneous and low‐defect crystalline state by regulating the thermodynamic nucleation mechanism of sky‐blue perovskite, thereby enhancing emission stability. Utilizing oxygen‐plasma treatment, a highly uniform surface energy is ensured for the nickel oxide acting as a hole transport layer. This treatment not only induces homogeneous nucleation of the perovskite layer but also effectively suppresses crystal defects. Simultaneously, the uniform surface energy alleviates halide phase separation caused by Ostwald ripening. Upon optimizing the fabrication conditions for sky‐blue perovskite, the resulting PeLEDs, featuring an electroluminescent peak at 486 nm, attain a luminance of 1125.3 cd m−2 with exceptional electroluminescent stability and a T50 lifetime. Furthermore, gaining insights into the thermodynamic nucleation mechanism in mix‐halides and perovskites contributes to the advancement of research on sky‐blue PeLEDs and offers valuable perspectives for future development. [ABSTRACT FROM AUTHOR]

In this paper, we present a double-intelligent reflecting surfaces (IRS)-assisted multiuser secure system where the inter-IRS channel is considered. In particular, we maximize the weighted sum secrecy rate of the system by jointly optimizing the beamforming vector for transmitted signal and artificial noise at the base station (BS) and the cooperative phase shifts of two IRSs, under the constraints of transmission power at the BS and the unit-modulus phase shift of IRSs. To tackle the nonconvexity of the optimization problem, we first convert the objective function to its concave lower bound by utilizing a novel successive convex approximation technique, then solve the transformed problem iteratively by applying an alternating optimization method. The Lagrange dual method, Karush–Kuhn–Tucker conditions, and alternating direction method of multipliers are applied to develop a low-complexity solution for each subproblem. Finally, simulation results are provided to verify the advantages of the cooperative double-IRS scheme in comparison with the benchmark schemes. [ABSTRACT FROM AUTHOR]

Hepatocellular carcinoma (HCC) is acknowledged as an immunosuppressive neoplasm, whereby the inactive microenvironment facilitates immune tolerance and evasion of HCC. Post‐surgical resected liver cancer exhibits a proclivity for relapse, rendering prevention of recurrence challenging as it may transpire at any point subsequent to surgery. Among the various anti‐recurrence interventions, the primary clinical approach involving the administration of regimens atezolizumab and bevacizumab (A+T) is deemed the most efficacious in reversing the tumor microenvironment, albeit still lacking in complete satisfaction. Therefore, the objective is to utilize a recently developed block copolymer as a protective carrier for two specific monoclonal antibody drugs. Subsequently, a modified hemostatic hydrogel will be synthesized for application during hepatic surgery. The immunotherapy impact of this approach is significantly prolonged and intensified due to the combined hemostasis properties and controlled release of the constituents within the synthesized nanocomposite hydrogel. Furthermore, these nanocomposite hydrogels exhibit remarkable efficacy in preventing postoperative wound bleeding and substantially enhancing the safety of liver cancer resection. This research on the anti‐recurrence hydrogel system presents a novel therapeutic approach for addressing local recurrence of liver cancer, potentially offering a substantial contribution to the field of surgical treatment for liver cancer in the future. [ABSTRACT FROM AUTHOR]

Previous studies have shown that the school-based physical activity programme entitled "11 for Health" has been effective in improving the physical fitness, well-being and overall health profile of European children. The main purpose of the present study was to examine whether the "11 for Health" programme can have a positive impact on the physical fitness of primary school pupils in China. A total of 124 primary school pupils aged 9-11 years were included in the experiment, randomly divided into the experimental group (EG, n = 62) and the control group (CG, n = 62). EG carried out three weekly 35-minute sessions of small-sided football for a total of 11 weeks. All data were analysed by a mixed ANOVA with the Student-Newman-Keuls post hoc test. The results showed greater improvements (p<0.001) in EG than CG in relation to systolic blood pressure (-2.9 vs +2.0 mmHg). Moreover, greater improvements (all p<0.05) were observed in postural balance (13 vs 0%), standing long jump (5.0 vs 0.5%), 30-metre sprint (4.1 vs 1.3%) and Yo-Yo IR1C running performance (17% vs 6%). In both EG and CG, physical activity enjoyment was observed to be higher (P<0.05) compared to the start of the intervention with increases of 3.7 and 3.9 AU respectively. In conclusion, the study revealed that the "11 for Health" programme has positive effects on aerobic and muscular fitness, and it appears to be a relevant tool in the physical activity promotion in the Chinese school system. [ABSTRACT FROM AUTHOR]

Noonan syndrome (NS) is a common clinical variable disease characterized by a number of features, mainly including congenital heart defects, short stature, and a variable degree of developmental delay. This disorder is transmitted mostly in an autosomal dominant manner and is genetically heterogeneous. We report three prenatal cases of LZTR1‐related recessive NS. One case had a recurrent cystic hygroma at 13 weeks gestation and the pregnancy was terminated. Two cases had an increased nuchal translucency at 12 weeks' gestation, but a normal second trimester ultrasound; both presented with hypertrophic cardiomyopathy in the third trimester. The two infants were diagnosed with NS after birth. All of the three cases had invasive genetic investigations during pregnancy, and trio exome sequencing revealed biallelic likely pathogenic or pathogenic LZTR1 variants in the fetuses. All parents were LZTR1 variant carriers. Our report further strengthens the association of LZTR1 with an autosomal recessive form of NS. The affected fetuses are more likely to have cardiac anomalies. Clarification of molecular diagnosis has important implications in these families because they carry a 25% recurrence risk. Key points: What's already known about this topic? Variants of genes in the mitogen‐activated protein kinase signaling pathway cause Noonan syndrome (NS) or closely related conditions.Only a few studies report that variants in LZTR1 cause both autosomal dominant and biallelic autosomal recessive forms of NS. What does this review add? Our report further strengthens the association of LZTR1 with a recessive form of NS.The fetuses affected with LZTR1‐related recessive NS more likely present with cardiac anomalies in late pregnancies. [ABSTRACT FROM AUTHOR]

Structures with variable stiffness during deformation are of great importance in many fields. The solid-liquid transformation method using low melting point alloys (LMPA) is a promising method to control structural deformation. In this study, a coaxial filamentary feature consisting of pure LMPA surrounded by thermoplastic polymer (TP) is three-dimensionally printed and deformable structure can be constructed. The Polymer/LMPA structure can reveal special and valuable performances: The flexural modulus of the printed TPU/LMPA unit is about 1152 MPa, which is almost 330 times that of TPU and it can achieve large-scale stiffness changes by regulating temperature. Due to its reversibility and variable stiffness, the structure can achieve drive response perturbations under large bias loads. The maximum output force of the TPU/LMPA composite structure is 8.5 N and the maximum driving displacement is 18.5 mm. The fundamental frequency variation of the structure is achieved during the heating of the structure and the change of temperature can change the damping effect according to adjusting the frequency. This study has an important role in the future design of controllable stiffness structures. [ABSTRACT FROM AUTHOR]

Congenital diaphragmatic hernia (CDH) is a birth defect that can be caused by genetic syndromes. In this study, a case of CDH diagnosed in the first trimester of pregnancy was reported. Exome sequencing (ES) was used to determine the genetic cause of the CDH, and a variant in the ARID2 gene associated with Coffin-Siris syndrome (CSS) type 6 was identified. The study highlights the importance of early diagnosis of CDH and suggests that genetic testing, including ES, should be considered in the evaluation of fetuses with CDH. However, ES is not recommended as a routine test in early pregnancy. [Extracted from the article]

Shaft voltage often exists in synchronous generators due to the assembly error or various faults after the long‐term performance. The article investigates the shaft voltage characteristic under the stator interturn short circuit (SISC) condition. Different from other studies, this article mainly considers the mapping relationship between the amplitude–frequency characteristics of the shaft voltage and the SISC degrees. The detailed shaft voltage expressions are first derived based on the magnetic flux density under the normal condition and SISC condition. Then the finite element analysis and the experiment is studied on a CS‐5 prototype synchronous generator with two poles in order to validate the theoretical formula. The result shows that there is no shaft voltage in the normal condition, while the shaft voltage is generated obviously under the SISC condition. Meanwhile, the frequency component of the shaft voltage is mainly composed of odd harmonics including the first, third and fifth harmonics. [ABSTRACT FROM AUTHOR]

Objective: To examine the diagnostic yield of exome sequencing (ES) in singleton pregnancies with isolated fetal clubfoot. Methods: Clinical data from singleton pregnancies with a sonographic diagnosis of isolated clubfoot and ES results between 2018 and 2021 were retrospectively obtained from a single referral medical center. The recorded data include maternal age, gestational age at sonographic diagnosis, the indication for genetic testing, ES results, and pregnancy outcomes. Results: During the study period, 38 fetuses were prenatally diagnosed with isolated clubfoot by ultrasound and underwent ES after the copy number variant analysis was non‐diagnostic. Through the trio‐ES analysis, pathogenic or likely pathogenic variants were detected in 4 of 38 (10.5%) with the following genes: BRPF1, ANKRD17, FLNA, and KIF1A. All are de novo with three of autosomal dominant inheritance and one of X‐linked recessive inheritance. Conclusion: Sonographic diagnosis of clubfoot, even isolated, increases the risk for monogenic syndromes. Exome sequencing should be an option for genetic investigation for such pregnancies. Key points: What's already known about this topic? Clubfoot is one of the common congenital anomalies detected prenatally.The prognosis depends on whether it is associated with additional malformations.The use of chromosomal microarray analysis (CMA) to identify the genetic etiology of isolated fetal clubfoot has been recommended. What does this study add? Sonographic diagnosis of fetal isolated clubfoot can increase the risk for single gene disorders.Exome sequencing (ES) should be an option for genetic investigation in such pregnancies. [ABSTRACT FROM AUTHOR]

Objective: To present both our center's and previously reported experience of prenatal diagnosis of Coffin‐Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome. Methods: This was a retrospective study of eight pregnancies with fetal CSS identified by prenatal or postnatal genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray and exome sequencing (ES) results, and pregnancy outcomes. Results: A total of eight cases of fetal CSS based on molecular testing were detected. Two cases presented with an increased nuchal translucency (NT) in the first trimester. The remaining six were identified at the second trimester scan. Agenesis of the corpus callosum (ACC) was the most common sonographic finding, accounting for 5/7 (71.4%) cases in which a second trimester sonogram was performed: four had ACC as an isolated finding, and one had additional features of cerebellar hypoplasia and left congenital diaphragmatic hernia. Conclusion: CSS should be included in the differential diagnosis when ACC is found by prenatal ultrasound. Both chromosomal microarray and ES should be options when counseling patients with a structurally anomalous fetus. Key points: What is already known on this topic?Coffin‐Siris syndrome (CSS) is inherited in an autosomal dominant manner; most affected individuals have the disorder as the result of de novo CSS‐causing variants of genes in the BAF complex.In postnatal patients, the diagnosis is based on the presence of major and at least one minor clinical sign. What this study adds?CSS should be included in the differential diagnosis when a fetus presents with agenesis of the corpus callosum.In addition to chromosomal microarray, exome sequencing should be an option when counseling patients with a structurally anomalous fetus. [ABSTRACT FROM AUTHOR]

Nanozyme has been experiencing rapid development in biomedical applications involving biosensors, immunoassays, and antitumor agents in recent years due to its tunable catalytic performance and desirable biocompatibility. Since the first exploration of nanozyme‐based Fenton reaction for nanocatalytic therapy (NCT) against tumor, a variety of Fenton (and Fenton‐like) nanozymes, such as Fe3O4, transition metal ions (Co2+, Cu2+, and Mn2+), and metal–organic frameworks (MOFs), have been proved as desirable candidates for tumor therapy, and the modulation of the tumor microenvironment (TME) is determined to be a feasible approach to improve the catalytic efficiency for in situ tumor suppression. At present, increasing studies have focused on improving the therapeutic efficiency of NCT by formulating multifunctional nanozyme‐based systems to satisfy the demand for versatile and optimized applications. Herein, updated insights into the novel strategies of 1) achieving highly effective nanocatalytic reactions, including the modification of nanocatalysts and TME‐modulating approaches, are provided and 2) the design and formulation of multifunctional nanozyme‐based systems which achieve targeted, synergistic therapy, and theranostic applications are analyzed and concluded. Concise and concentrated comments and outlooks are illuminated at the end to outline the perspectives and the remaining challenges for the next‐step explorations on further biomedical translation of NCT. [ABSTRACT FROM AUTHOR]

Objective: We aimed to investigate the value of exome sequencing (ES) in fetuses with callosal anomalies (CA) with or without other structural anomalies, but with normal findings by karyotyping and chromosome microarray analysis (CMA). Methods: Cases with CA with or without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping or CMA results were excluded. We performed ES on DNA samples from eligible fetus‐parental trios and identified diagnostic genetic variants based on the ultrasonographic features. Results: A total of 50 eligible fetus‐parental trios were successfully analyzed by ES. We found 17 likely pathogenic or pathogenic variants in 14 genes from 17 fetuses, with a total proportion of diagnostic genetic variants equal to 34.0% (17/50). Of the 17 cases with a diagnosis, 10 (29.4%, 10/35) were isolated and 7 (43.8%, 7/15) were non‐isolated. Pregnancy outcome data showed that 70.0% (7/10) of the surviving isolated CA fetuses with negative ES results had a good prognosis in early childhood. Conclusions: Our study used ES prenatally for CA and showed that ES can be used diagnostically to define the molecular defects that underlie unexplained CA. Most subjects with isolated CA with negative results for genetic causes will have a favorable prognosis in early childhood. Key points: What is already known on this topic? CNVs and monogenic causes have been shown to be associated with callosal anomalies (CA).Approximately 28.8%–50% of children with CA experienced general intellectual, academic, executive, social and/or behavioral difficulties and approximately 20%–71.2% were functioning at a level comparable to typically developing children. What does this study add? This study analyzed the use of exome sequencing (ES) in a group of fetuses with CA and the total proportion of diagnostic genetic variants was 34.0%.Most subjects with isolated CA with negative results for genetic causes will have a favorable prognosis in early childhood. [ABSTRACT FROM AUTHOR]

The pregnancy ended in a spontaneous vaginal delivery at 38 weeks gestation when another ultrasound showed an enlarged cisterna magna of 18.0 mm (normal range, 5.5-7.6 mm; Figure 1B). Congenital disorders of glycosylation (CDG) are rare conditions caused by genetic defects in glycan synthesis, processing or transport that are required in formation of glycoproteins and glycolipids.1 Glycosylation involves an ever growing number of genes, encoding different proteins or enzymes. Fetal phenotype of SLC35A2-CDG: Enlarged cisterna magna on ultrasound. [Extracted from the article]

Spheronization of cylindrical extrudates on a rotating friction plate involves breakage and rounding. Little attention has been given to the breakage stage and quantitative modeling of this process is scarce. Two simple models are compared with experimental data obtained for the early stages of spheronization of microcrystalline cellulose/water extrudates. Tests were conducted for different times (t), rotational speeds (ω), initial loadings, and on pyramidal friction plates with different dimensions. The first model, describing the number of pellets, validated ω3t as a characteristic time scale for the breakage stage. The kinetic parameters obtained by fitting showed a systematic dependence on plate dimensions expressed as a scaled gap width. The second model, a simple population balance, described the evolution of the number and length of pellets. The pseudo rate constants provided insights into the kinetics: extrudates tended to break near the middle, while breakage of smaller pellets was slowed down by more pellet–pellet collisions. [ABSTRACT FROM AUTHOR]

Metallic lithium anode has long stood as the "holy grail" in the field of secondary batteries for its high theoretical specific capacity and low electrochemical potential. But its edge is blunted by the inherent uncontrolled lithium dendrite growth that can curtail the cycle life and raise safety concerns. In this work, a functional modification layer from a derivant of natural silk is developed to protect lithium anode via a facile automatic transfer route. Via offering abundant functional group sites, the Li-ion flux on the anode surface is made uniform efficiently. The silk fibroin-based modification layer also contributes to the in situ formation of a Li3N-rich solid electrolyte interphase film on the lithium anode. Consequently, a high-performance lithium metal anode with dendrite-free morphology and significantly enhanced cycle stability is achieved: when paired with LiFePO4 cathodes, the full cell achieves a longterm cycling stability of 3000 cycles at 5 C; when paired with sulfur cathodes (5 mgsulfur cm-2), a long lifespan for over 400 cycles at 1 C is achieved. This work offers a facile and practical approach for the interface modification of the high-performance lithium anode and as well as provides a new perspective for the application of biomass-based materials in advanced batteries. [ABSTRACT FROM AUTHOR]

We studied the effects of wolfberry and astragalus extract on the growth performance, carcass traits, and meat quality of Tibetan fragrant pigs, and we want to explain the mechanism of the difference from the level of RNA Seq. Twelve healthy 120-day-old Tibetan fragrant pigs weighing 35 ± 2 kg were divided randomly into two groups, each with six pigs. The control group was fed a basal diet, and the wolfberry and astragalus extract (WAE) group was fed a basal diet +1? of WAE. The experimental period was 90 days. Compared with the control group, the growth performance of the WAE group was significantly improved (p < .05), pork marble score significantly improved (p < .05), vitamin E content significantly increased (p < .05), unsaturated fatty acid content significantly increased (p < .05). A total of 256 differentially expressed genes were obtained by transcriptome sequencing, among which 114 were up-regulated and 142 were down-regulated. GO analysis showed that the differentially expressed genes were related to biological functions, such as monounsaturated fatty acid biosynthesis, fatty acid metabolism, lipoprotein decomposition, and lipase activity. Pathway analysis showed that these differentially expressed genes were mainly involved in unsaturated fatty acid biosynthesis regulation, glycerin metabolism, and lipopolysaccharide regulation in fat. WAE improved Tibetan fragrant pigs growth performance. By intervening in key genes related to fatty acid metabolism, the unsaturated fatty acid contents in pork were regulated, which improved the nutritional value of the pork. [ABSTRACT FROM AUTHOR]

miRNAs are a class of small non‐coding RNAs that are involved in various biological processes. In the preliminary work of the laboratory, found that miR‐383‐5p was down‐regulated in the liver tissue of acute cold stress rats and has been shown to be an important regulatory factor in tumour proliferation, but there are very few studies involving the mediation of cold stress in rat liver tissues. Therefore, the purpose of this study was to determine the effect of miR‐383‐5p on the livers of cold stress rats by simulating the cold stress state of rat liver tissues in vitro using H2O2 to induce rat hepatocyte oxidative stress. The results showed that MDA content, Caspase 3 and Cyto C protein levels increased significantly; GPx activity and SOD1 protein levels decreased significantly and miR‐383‐5p expression was significantly down‐regulated in rat liver tissues after cold stress. Different concentrations of H2O2 was added to rat hepatocytes, and the results showed that the expression of miR‐383‐5p, the ROS level, and the apoptosis rate in rat hepatocytes was increased significantly in a concentration‐dependent fashion. Transfection of miR‐383‐5p inhibitor revealed that the apoptosis rate of rat hepatocytes, and the protein level of apoptosis‐related protein Caspase 3 were reduced; the results of the dual‐luciferase reporter gene assay showed that miR‐383‐5p targeted regulation of Bcl2. The results suggested that the expression of miR‐383‐5p was up‐regulated in oxidative stress rat hepatocytes and may aggravate the apoptosis of rat hepatocytes induced by targeting inhibition of Bcl2 translation. [ABSTRACT FROM AUTHOR]

Previously, we identified rare missense mutations of complement component 2 (C2) to be associated with chronic hepatitis B (CHB) by exome sequencing. However, up to now, little is known about the role of C2 in CHB. In the present study, we aimed to perform preliminary exploration about the underlying role of C2 in CHB. Serum samples from 113 CHB patients and 30 healthy controls, and liver biopsy samples from 5 CHB patients and 3 healthy controls were obtained from the Third Affiliated Hospital of Sun Yat‐sen University between January 2018 and January 2020. HepG2.2.15 and HepG2‐NTCP cells infected with HBV were used to examine the influence of HBV infection on C2 expression. IFN‐treated HepG2.2.15 cells were used to assess the effect of IFN on C2 expression. C2‐overexpressing or C2‐silencing HepG2.2.15 cells were constructed to evaluate the effect of C2 on HBV infection. Western blot and RT‐qPCR were used to measure C2 expression in biopsy samples. HBeAg and HBsAg in culture medium and C2 of serum samples were measured by ELISA. HBV‐DNA was measured by RT‐qPCR. GSE84044, GSE54747 and GSE27555 were downloaded from GEO. C2 expression in liver tissue and serum was significantly lower in CHB patients compared to healthy controls, and significantly higher C2 expression was found in CHB patients with lower ALT, AST, Scheuer grade and stages compared to CHB patients with higher ALT, AST, Scheuer grades and Scheuer stage. Besides, HBV infection could decrease C2 expression by increasing expression of Sp1 and reducing expression of HDAC4. Moreover, C2 could enhance the anti‐virus effect of IFN on HepG2.2.15 cells and also inhibit HBV replication in HepG2.2.15 cells by inhibition of p38‐MAPK signalling pathway. In conclusion, HBV may promote viral persistence in CHB patients by inhibiting C2 expression. [ABSTRACT FROM AUTHOR]

Objective: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. Methods: Medical trio exome sequencing (ES) was performed on DNA extracted from chorionic villi in 73 fetuses with isolated first‐trimester increased NT (≥3.5 mm) and normal chromosomal microarray analysis (CMA). This testing targets coding exons for 4200 clinically relevant disease‐causing genes. The interpretation of variants was performed according to the American College of Medical Genetics guidelines. Results: Pathogenic variants were detected in four cases in which phenotypes and genotypes correlate well. Medical trio ES offered a 5.5% (4/73) increase in diagnostic rate over CMA in cases with isolated increased NT. Three of four cases with pathogenic variants developed structural anomalies on ultrasound at mid pregnancy, leading to the pregnancy termination. Only one case with a pathogenic variant demonstrated normal ultrasound throughout pregnancy. Conclusion: Our results indicate that after a normal CMA, fetuses with isolated first‐trimester increased NT have a 1.4% (1/73) risk of significant childhood genetic syndromes caused by known disease‐causing variants, which will not be detectable on prenatal ultrasound. This information may be useful in parental counseling. [ABSTRACT FROM AUTHOR]

The genetic diagnosis of congenital heart defects (CHDs) is challenging because of genetic and phenotypic heterogeneity. The aim of our study was to evaluate the clinical value of whole exome sequencing (WES) in the prenatal diagnosis of CHDs in a large cohort. Trio‐based WES was performed in 260 fetuses with CHDs negative for karyotype and chromosome microarray analysis results. WES produced a diagnostic yield of 10% (26/260) in the entire cohort. Relative high diagnostic rate was observed in cases with cardiac rhabdomyoma (60%), complex CHDs (16.7%), septal defect (14.0%), and conotruncal defect (9.9%). There was no significant difference between the diagnostic yields in simple and complex CHDs groups (9.9% vs 16.7%), and in non‐isolated and isolated CHDs groups (15.7% vs 7.9%). The diagnostic yields in cases with CHDs with soft markers, CHDs with fetal growth restriction, and CHDs with other structural anomalies (syndromic CHDs) were 0 (0/13), 50% (1/2) and 18.2% (10/55), respectively. Variants of unknown significance were detected in 16 (6.2%) fetuses, and secondary findings in 7 (2.7%) cases. Variants in 14 candidate genes were identified. Our study demonstrates an incremental diagnostic yield by trio‐based WES in the prenatal diagnosis of CHDs after routine tests, not as high as expected. [ABSTRACT FROM AUTHOR]

Objective: We aimed to investigate the value of whole‐exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with or without other structural anomalies but with normal findings upon karyotyping and chromosome microarray analysis (CMA). Methods: Cases with CAKUT with or without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping or CMA results were excluded. We performed WES on DNA samples from eligible fetus‐parental trios and identified diagnostic genetic variants based on ultrasonographic features. Results: A total of 163 eligible fetus‐parental trios were successfully analyzed by WES. We found 26 likely pathogenic or pathogenic variants in 18 genes from 20 fetuses, with a total proportion of diagnostic genetic variants of 12.3% (20/163). Genetic variants were significantly more frequently detected in fetuses with multisystem anomalies (27.0%, 10/37), enlarged kidney/echogenic kidney (20%, 4/20), and multicystic dysplastic kidney (11.1%, 4/36). Pregnancy outcome data showed that 88 (94.6%, 88/93) of the surviving cases with negative WES results had a good prognosis in early childhood. Conclusions: Our study is the largest to use WES prenatally for CAKUT and shows that WES can be used diagnostically to define the molecular defects that underlie unexplained CAKUT. [ABSTRACT FROM AUTHOR]

A new family of pyrimidine modified tetrazole & azido derivatives (1‐16) was developed using the conventional and nucleophilic substitution methods. The 1H‐tetrazol‐1‐yl)pyrimidine (1‐10) compounds were prepared via traditional cycloaddition and condensation method. The compounds tetrazolo[1,5‐a]pyrimidine (11 a,12 a, and 13 a), azido‐(1H‐tetrazol‐1‐yl)pyrimidine (14 a and 15 a) and tetrazolo[1,5‐c]pyrimidine (16 a) were synthesized by simultaneously introducing conventional and nucleophilic substitution approaches. The latter technique was easy to process and reduce the synthesis time. The factors (solvent, temperature, steric effect, electron‐donating groups, and electron‐withdrawing groups) were found responsible for steering the azido‐tetrazole equilibrium in the compounds 11 a, 12 a, 13 a, and 16 a. All the prepared compounds were well characterized including single‐crystal X‐ray diffraction structures of 1, 3, 4, 6, 8, 10, 11 a, 12 a, 13 a, 14 a, 15 a, and 16 a. Thermal behaviour was investigated by differential scanning calorimetry (DSC) and thermal gravimetric analysis (TGA). The current work is significant to the development of a new class of pyrimidine modified tetrazole and azido derivatives in sense of easy reaction approach, good to excellent yields, safe process, and simple work‐ups. [ABSTRACT FROM AUTHOR]

The Zi goose is native to North‐east China and is noted for its high egg production. Alpha enolase (ENO1) is a glycolytic enzyme which functions as a plasminogen receptor in follicular granulosa cells (FGCs), with several studies showing that FGCs can support follicular development. By transfecting the ENO1 interfering plasmid (shRNA) into FGCs, ENO1 expression in these cells was downregulated, suggesting the successful knock‐down of ENO1 in these cells. In this knock‐down model, we detected 13 metabolites from FGCs using LC/MS. When compared with the non‐coding shRNA (NC) group, the lower level metabolites were (R)‐(+)‐citronellic acid, altretamine, 3‐hydroxycaproic acid, heptadecanoic acid, cholecalciferol vitamin D3, indole, benzoic acid, capric acid, caffeic acid, azelaic acid, 3,4‐dihydroxyhydrocinnamic acid and cholic acid, while oleic acid was detected at high levels. To further examine the results of metabolomics, six key metabolites were verified by gas chromatography‐mass spectrometry (GC‐MS). We found that vitamin D3, indole, benzoic acid, capric acid and cholic acid were significantly downregulated in the shRNA group, while oleic acid was significantly upregulated. This observation was consistent with the metabolomics data. Through these studies, we found that decreased ENO1 levels altered certain metabolite levels in FGCs. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.Method: Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel.Results: Definitive molecular diagnosis was made in 24/27 (88.9%) cases. Chromosomal abnormality (partial trisomy 18) was detected in one case. Sequencing results had explained the prenatal phenotype enabling definitive diagnoses to be made in 23 cases. There were 16 de novo dominant pathogenic variants, four dominant pathogenic variants inherited maternally or paternally, two recessive conditions with pathogenic variants inherited from unaffected parents, and one X-linked condition. The turnaround time from receipt of samples in the laboratory to reporting sequencing results was within 2 weeks.Conclusion: Medical trio ES can yield very timely and high diagnostic rates in fetuses presenting with suspected skeletal dysplasia. These definite diagnoses aided parental counseling and decision making in most of cases. [ABSTRACT FROM AUTHOR]

More than two‐thirds of patients with hepatocellular carcinoma (HCC) cannot receive curative therapy and have poor survival due to late diagnosis and few prognostic directions. In our study, nontargeted and targeted metabolomics analyses were conducted by liquid chromatography–mass spectrometry to characterize metabolic features of HCC and identify diagnostic and prognostic biomarker candidate incorporating liver tissue and serum metabolites. A total of 552 subjects, including 432 with liver tissue and 120 with serum specimens, were recruited in China. In the discovery cohort, a series of 138 metabolites were identified to discriminate HCC tissues from matched nontumor tissues. Retinol presented with the highest area under the curve (AUC) of 0.991 and associated with Edmondson grade. In the validation cohort, all metabolites in retinol metabolism pathway were examined and the levels of retinol and retinal in tumor tissue and serum decreased in the order of normal to cirrhosis to HCC of Edmondson Grades I to IV. Retinol and retinal levels could also differentiate between HCC and cirrhosis, with AUCs of 0.996 and 0.994, respectively, in tissue and 0.812 and 0.744, respectively, in serum. The AUC of the combined retinol and retinal panel in serum was 0.852. Univariate and multivariate Cox regression identified this panel as an independent predictor for HCC and showed that low expression of retinol and retinal correlated with decreased survival time. In conclusion, the retinol metabolic signature had considerable diagnostic and prognostic value for identifying HCC patients who would benefit from prompt therapy and optimal prognostic direction. What's new? Currently, α‐fetoprotein (AFP) is the most practical screening biomarker for early hepatocellular carcinoma (HCC) detection and prognostic tool for tumor recurrence and patient survival, but the relatively poor sensitivity and specificity remain unsatisfactory. Here, retinol metabolism was found to be closely associated with the malignant transformation of HCC. Retinol and retinal displayed great diagnostic ability for HCC both in liver tissue and serum samples. The two‐metabolite panel could serve as an independent predictor for HCC; low expression of retinol and retinal correlated with decreased survival time. Retinol metabolism thus hold great promise for clinical application in HCC diagnosis and prognosis. [ABSTRACT FROM AUTHOR]

We report in this article a cascade reaction strategy for the synthesis of complex N‐heterocyclic compounds with contiguous and tetrasubstituted stereogenic carbons. Under the sequential catalysis of a chiral binol–Ti complex and BF3, cyclopentanone‐derived tertiary enamides undergo an enantioselective enamine addition to ketone carbonyls followed by diastereoselective trapping of the resulting acyliminiums by electron‐rich aryl moieties to furnish four‐ and five‐membered ring‐fused N‐heterocyclic products as the sole diastereomers in high yields with up to 99 % ee. [ABSTRACT FROM AUTHOR]

Understanding the effect of the top soil layer on surface evaporation and water distribution is critical to modeling hydrological systems. However, the dependency of near-surface soil moisture and fluxes on layering characteristics remains unclear. To address this uncertainty, we investigate how the arrangement of soil horizons affects the evaporation and soil moisture, specifically, the near-surface soil moisture, through the combination of numerical simulations and evaporation experiments. The characteristics of fluxes and moisture from different soil profiles are then used to understand the soil layering conditions. Results show that the top soil layer can significantly affect the evolution of soil moisture profiles and evaporation dynamics, the extent of which depends on the layering sequence, thickness, and properties of each layer. The soil systems consisting of a thick coarse (C) layer overlying a fine (F) layer, or a very thin F layer overlying a C layer exhibit near-surface moisture, temperature and fluxes nearly identical to that of a homogeneous C system; in these cases, a homogeneous C soil could be used to represent the above two layered systems. However, some soil profiles cannot be described by a single set of soil properties, nevertheless, they show distinct characteristics that can serve as indicators for soil layering conditions, e.g., "first slowly then rapidly" decreasing dynamics of near-surface soilmoisture. As some characteristics are not unique to layered soil, the combined information including the near-surface soil moisture defined at different depths and evaporation behavior of an entire drying cycle can be used to better characterize the layering conditions. [ABSTRACT FROM AUTHOR]

What's already known about this topic? In almost all cases of Hb Bart's hydrops fetalis, α0‐thalassemia can be confirmed by testing of parental blood.Germline mosaicism occurs most of the time in autosomal dominant and X‐linked recessive disorders. What does this study add? The present case is the first documentation of germline mosaicism for an α‐thalassemia deletion.Since almost all fetuses affected with Hb Bart's hydrops fetalis present with cardiomegaly on ultrasound, sonographers in regions with high α‐thalassemia prevalence should be sensitive to the cardiothoracic ratio. [ABSTRACT FROM AUTHOR]

What's already known about this topic? Positive predict value (PPV) is vitally important because it indicates the probability that a positive test result represents a true fetal abnormality.PPV of noninvasive prenatal testing (NIPT) is lower for trisomy 18/13 compared with trisomy 21. What does this study add? In our study cohort of women with a high‐risk noninvasive prenatal testing (NIPT) result and normal nuchal translucency measurement, >90% (32/35) of cases with true fetal trisomy 18/13 had a fetal abnormality on ultrasound, compared with none of the fetuses with confined placental mosaicism and normal amniocentesis result.Detailed sonographic examination of the fetus following a high‐risk NIPT result for trisomy 13/18 is an important component of clinical management and may influence the choice of confirmatory prenatal diagnostic procedure. [ABSTRACT FROM AUTHOR]

Cloud detection plays a significant role in remote sensing (RS) image processing. Numbers of cloud detection algorithms have been developed in the literature. However, they suffer the weakness of omitting thin and small cloud, and poor ability of differentiating the cloud from confusing ground region (e.g. artificial building). In this study, a robust ragged cloud detection algorithm for RS image is proposed. First, the simple linear iterative clustering method is applied to segment ragged cloud. Then, the improved Qtsu's method is introduced to remove the redundant superpixel. Finally, the Natural Scene Statistic is designed to classify the cloud region. Finally, original image will be classified into thick cloud, thin cloud and non-cloud. Experimental results indicate that the proposed model outperforms the state-of-the-art methods for cloud detection. [ABSTRACT FROM AUTHOR]

Ship classification in optical images has been challenged by the complexity of various ships, different imaging conditions, and limited labelled images. Traditional methods focus on extracting handcrafted features for classification, but often fails to design well-performed features for complex images. Here, the authors propose a ship classification approach with CNN. It is capable of learning discriminative features itself by supervised learning and achieving good classification performance. They build two small datasets of optical ship images for training and validation, and conduct several experiments. The experimental results indicate that their approach is effective for ship classification. [ABSTRACT FROM AUTHOR]

We examine the associations among leverage, corporate and investor level taxes, and the firm's implied cost of equity capital. Expanding on Modigliani and Miller [1958, 1963], the cost of equity capital can be expressed as a function of leverage and corporate and investor level taxes. Based on this expression, we predict that the cost of equity is increasing in leverage, and that corporate taxes mitigate this leverage-related risk premium, while the personal tax disadvantage of debt increases this premium. We empirically test these predictions using implied cost of equity estimates and proxies for the firm's corporate tax rate and the personal tax disadvantage of debt. Our results suggest that the equity risk premium associated with leverage is decreasing in the corporate tax benefit from debt. We find some evidence that the equity risk premium from leverage is increasing in the personal tax penalty associated with debt. [ABSTRACT FROM AUTHOR]

LINKED CONTENT This article is linked to Toyoda et al papers. To view these articles, visit https://doi.org/10.1111/apt.17088 and https://doi.org/10.1111/apt.17139 [ABSTRACT FROM AUTHOR]

Only isolated cases have been reported, for example, in fetuses of genetic disorders.[1] In this study, we describe HCM identified by mid-pregnancy ultrasound in a prenatal case with Noonan syndrome (NS), and this association has seldom been reported. The p.S257 L variant in our case locates in CR2, and has been reported in NS with HCM.[6] However, most of previously reported HCM patients with NS-causing variants developed this cardiac defect postnatally. [Extracted from the article]