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Area detectors have been widely used in X-ray diffraction (XRD) to improve the acquisition speed and data quality. Here, an accurate, high efficiency, low distortion approach with a large angle range for collecting powder X-ray diffraction data is developed which is carried out by rotating a small area detector on the detector arm of the diffractometer. A series of collected images are spliced and converted into one 1D XRD pattern. The calculation of the 2θ value and intensity corresponding to every pixel are shown in detail. The calibration of the detector and experimental geometry was carried out. Finally, the reliability of this method has been demonstrated by the X-ray diffraction measurements of a standard LaB6 powder and Rietveld refinement results. [ABSTRACT FROM AUTHOR]

ACI 318-19 and ASCE 7-22 specify code-compliant and emulative seismic force-resisting systems (SFRS) including intermediate precast shear wall systems. For the seismic design of a precast shear wall system, its successful performance heavily depends on the capacity design of inevitable discrete connections between precast wall panels, thus playing a critical role in controlling yielding to occur within steel reinforcements at the vicinity of intended locations or components. This is imperative for achieving not only ductility but also adequate energy dissipation, ensuring the system can effectively withstand seismic forces. To this end, the overstrength is essentially required to prevent any brittle failure, and the connections designed not to yield can be protected by addressing the 1.5Sy condition as specified in ACI 318-19 and ASCE 7-22. However, there can be a blind spot for the precast connections designed to yield. To this end, this study showed some cases based on practical examples from which a reasonable magnitude of overstrength (Sy) was tentatively recommended for better safety in the seismic design of the intermediate precast shear wall system with precast connections designed to be yielded. [ABSTRACT FROM AUTHOR]

Many problems may occur during constructing the reinforced concrete structures during the implementation process, so this study has focused on one of the problems that often occur during implementation, especially in large buildings where these building needs to pump large quantities of concrete at one time, and this is often not possible, so it creates an interface between the old and new concrete is called a construction joint. Also, large areas need reinforcement of large lengths, and here we will need reinforcement splices to obtain the required lengths. Many studies examine these two problems separately, but few of them mean studying them together, that is, the construction joint occurs at the area of reinforcement splices. Therefore, this study dealt with an experimental program from nine concrete beams reinforced with steel to study the structural performance of reinforced concrete elements in the presence of a construction joint (having various interfaces 45º inclined and L-shaped), with reinforcement splice of three different lengths. The results showed that the presence of a construction joint with a reinforcement splice of sufficient appropriate splice length reduced the load capacity by 37% for the inclined joint beam while an insufficient splice length of 180 mm reduced the load capacity by 59% compared to the reference. It is shown that concrete beams lose their ductility in the presence of the construction joint at the splice reinforcement splice reinforcement region. Also, it should be considered the outcome of this study when designing mega-reinforced concrete structures. [ABSTRACT FROM AUTHOR]

The application of Topology Optimisation (TO) to help in the manufacture of metallic components in highly technological industries has increased recently. To equally benefit from TO, the construction industry must address its specific issues, such as adherence to code requirements and challenges in using cutting-edge software packages in complex joints with non-linear behaviour. To assist in such a challenge, the current study offers a methodology proposal to synthesise code and structural behaviour requirements into geometrical constraints for the optimisation problem of laminar steel parts under compression while integrating Non-linear Finite Element Analyses (NLFEA) that ensure the safety of the solution. It has been found that, for a real case-study, the initial volume of a connection's cover-plate can be decreased by up to 40% while maintaining the connection's original capacity and that a 30% volume decrease may be achieved while keeping the original plate capacity. In both cases, the plate's ultimate deformation capacity was enhanced. Evidence has been found that Linear Elastic TO may not provide safe-sided solutions for parts with an intrinsic non-linear behaviour. With the attained volume reductions, less raw materials may be consumed, assembly and transportation will be facilitated, and the goals of the sector's decarbonisation, energy intensity and sustainability will be favoured. [ABSTRACT FROM AUTHOR]

Background: Pathogenic variants in BRCA genes play a crucial role in the pathogenesis of ovarian cancer. Intronic variants of uncertain significance (VUS) may contribute to pathogenicity by affecting splicing. Currently, the significance of many intronic variants in BRCA has not been clarified, impacting patient treatment strategies and the management of familial cases. Method: A retrospective study was conducted to analyze BRCA intronic VUS in a cohort of 707 unrelated ovarian cancer patients at a single institution from 2018 to 2023. Three splicing predictors were employed to analyze detected intronic VUS. Variants predicted to have splicing alterations were selected for further validation through minigene assays. Patient and familial investigations were conducted to comprehend cancer incidence within pedigrees and the application of poly (ADP-ribose) polymerase inhibitors (PARPi) by the patients. In accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG), the intronic VUS were reclassified based on minigene assay results and clinical evidence. Result: Approximately 9.8% (69/707) of patients were identified as carriers of 67 different VUS in BRCA1/2, with four intronic variants accounting for 6% (4/67) of all VUS. Splicing predictors indicated potential splicing alterations in splicing for BRCA1 c.4358-2A>G and BRCA2 c.475+5G>C variants. Minigene assays utilizing the pSPL3 exon trapping vector revealed that these variants induced changes in splicing sites and frameshift, resulting in premature termination of translation (p. Ala1453Glyfs and p. Pro143Glyfs). According to ACMG guidelines, BRCA1 c.4358-2A>G and BRCA2 c.475+5G>C were reclassified as pathogenic variants. Pedigree investigations were conducted on patients with BRCA1 c.4358-2A>G variant, and the detailed utilization of PARPi provided valuable insights into research on PARPi resistance. Conclusion: Two intronic VUS were reclassified as pathogenic variants. A precise classification of variants is crucial for the effective treatment and management of both patients and healthy carriers. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Harbin Institute of Technology. Social Sciences Edition / Haerbin Gongye Daxue Xuebao. Shehui Kexue Ban is the property of Harbin Institute of Technology and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII‐complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several individuals from Belgium, France, the United States, and Türkiye. In the Chinese population, cases of CHMP2B variant‐associated FTD have never been reported. Methods: The spectrum of clinical symptoms and the genetic analysis of the presented patient were identified and investigated. Besides this case, we assessed previously reported cases with CHMP2B gene mutations. Results: This study presents a Chinese patient harboring a novel heterozygous A‐to‐T variant (NM_014043:c.532‐2A>T) in CHMP2B with a phenotype compatible with FTD. Although previous reports suggested cases of CHMP2B variant‐associated FTD initially presented with personality changes and stereotypical movements at the age of 50, this case was characterized by psychosis involving delusion of persecution, auditory hallucination, and suspiciousness at the earlier onset age of 44. Minigene splicing assay revealed that the splice‐site variant could result in the retention of intron 5. Conclusion: This is the first case of CHMP2B variant‐associated FTD reported in the Chinese population. The novel c.532‐2A>T variant in the acceptor splice site of exon 6 retaining intron 5 was predicted to cause truncated protein and protein conformation changes. This discovery may expand the genetic and phenotypic spectrum of CHMP2B variant‐associated FTD. [ABSTRACT FROM AUTHOR]

Purpose: The diffusion‐weighted SPLICE (split acquisition of fast spin‐echo signals) sequence employs split‐echo rapid acquisition with relaxation enhancement (RARE) readout to provide images almost free of geometric distortions. However, due to the varying T2$$ {}_2 $$‐weighting during k‐space traversal, SPLICE suffers from blurring. This work extends a method for controlling the spatial point spread function (PSF) while optimizing the signal‐to‐noise ratio (SNR) achieved by adjusting the flip angles in the refocusing pulse train of SPLICE. Methods: An algorithm based on extended phase graph (EPG) simulations optimizes the flip angles by maximizing SNR for a flexibly chosen predefined target PSF that describes the desired k‐space density weighting and spatial resolution. An optimized flip angle scheme and a corresponding post‐processing correction filter which together achieve the target PSF was tested by healthy subject brain imaging using a clinical 1.5 T scanner. Results: Brain images showed a clear and consistent improvement over those obtained with a standard constant flip angle scheme. SNR was increased and apparent diffusion coefficient estimates were more accurate. For a modified Hann k‐space weighting example, considerable benefits resulted from acquisition weighting by flip angle control. Conclusion: The presented flexible method for optimizing SPLICE flip angle schemes offers improved MR image quality of geometrically accurate diffusion‐weighted images that makes the sequence a strong candidate for radiotherapy planning or stereotactic surgery. [ABSTRACT FROM AUTHOR]

Abstract Background Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII‐complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several individuals from Belgium, France, the United States, and Türkiye. In the Chinese population, cases of CHMP2B variant‐associated FTD have never been reported. Methods The spectrum of clinical symptoms and the genetic analysis of the presented patient were identified and investigated. Besides this case, we assessed previously reported cases with CHMP2B gene mutations. Results This study presents a Chinese patient harboring a novel heterozygous A‐to‐T variant (NM_014043:c.532‐2A>T) in CHMP2B with a phenotype compatible with FTD. Although previous reports suggested cases of CHMP2B variant‐associated FTD initially presented with personality changes and stereotypical movements at the age of 50, this case was characterized by psychosis involving delusion of persecution, auditory hallucination, and suspiciousness at the earlier onset age of 44. Minigene splicing assay revealed that the splice‐site variant could result in the retention of intron 5. Conclusion This is the first case of CHMP2B variant‐associated FTD reported in the Chinese population. The novel c.532‐2A>T variant in the acceptor splice site of exon 6 retaining intron 5 was predicted to cause truncated protein and protein conformation changes. This discovery may expand the genetic and phenotypic spectrum of CHMP2B variant‐associated FTD.

To solve the problem that traditional natural gas pipeline mapping equipment can only map straight pipelines with close distances, a dual-robot pipeline mapping method based on laser ranging is proposed. Pipelines are divided into the horizontal straight pipeline section, the 90° horizontal bent pipeline section, the uphill/downhill pipeline section and the composite pipeline. In this method, the two vehicles move alternately at a uniform speed from the entrance to the exit of the pipeline. Through calculating the distance data captured by the robots, the 3-D model of each section can be obtained. Finally the mapping result of the whole pipeline can be spliced by each section. The experiment results show that this method can map different pipelines, and increase the mapping distance effectively: the distance error in 2 000 m is within 4 m and the error rate is about 0.178%. [ABSTRACT FROM AUTHOR]

The RUBCN gene encodes a widely expressed protein called Rubicon, the main function of which is to negatively regulate macroautophagy. A single homozygous pathogenic variant of the RUBCN gene has been reported to date in two unrelated consanguineous Saudi families with spinocerebellar ataxia autosomal recessive 15 (OMIM#613516). This variant is responsible for the deletion of the highly conserved Rubicon Homology (RH) domain, which is important for the colocalization of Rubicon with Rab7 in the late endosome. In this work, we describe a female patient with childhood-onset epileptic encephalopathy and neurodevelopmental delay carrying a novel homozygous variant in RUBCN (NM_014687.3: c.2126 + 1G>A). A functional study of the RNA revealed that this variant completely abolishes the consensus donor site at the exon 14/intron 14 junction, resulting in the absence of expression of the reference transcript. Two alternative transcripts were expressed: a major transcript resulting from activation of an alternative exonic splice site and a minor transcript with skipping of exon 14. The two alternative transcripts lead to a shift in the reading frame introducing a premature stop codon. The resulting truncated protein lacks the RH domain, which may lead to defective endosomal trafficking as previously described. To our best knowledge, this is the first report of an impairment of RUBCN caused by a splice variant., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

This paper presents the velocity wave of concrete spun piles with welded splice. The stress wave velocity was recorded using Pile Integrity Test. Two specimens were prepared in the experiment. The first sample was prepared visually no gap between the two end-plates of connected piles, while the second specimen was prepared by inserting 5mm thick steel plate into the splice to create a gap in its connection. The results show that a spike of reflecting stress wave still develops at the splice with and without gap, regardless the splice was welded in full circle. The relatively high spikes of reflecting waves at pile toe are noticed for both specimens with and without gaps. It shows that the full welded splice able to transfer stress wave velocity. A good quality of welded splice can be indicated by the reflecting wave at the pile toe, regardless the reflecting wave development at the splice.

This paper presents the velocity wave of concrete spun piles with welded splice. The stress wave velocity was recorded using Pile Integrity Test. Two specimens were prepared in the experiment. The first sample was prepared visually no gap between the two end-plates of connected piles, while the second specimen was prepared by inserting 5mm thick steel plate into the splice to create a gap in its connection. The results show that a spike of reflecting stress wave still develops at the splice with and without gap, regardless the splice was welded in full circle. The relatively high spikes of reflecting waves at pile toe are noticed for both specimens with and without gaps. It shows that the full welded splice able to transfer stress wave velocity. A good quality of welded splice can be indicated by the reflecting wave at the pile toe, regardless the reflecting wave development at the splice. [ABSTRACT FROM AUTHOR]

This paper proposes eight machine learning models for predicting the bond strength between straight deformed reinforcing bars and concrete under tensile load. The models included support vector regressor (SVR), k-nearest neighbors (KNN), random forest (RF), gradient boosting regressor (GBR), extreme gradient boosting (XGBoost), light gradient boosting machine (LightGBM), gradient boosting with categorical features support (CatBoost), and adaptive boosting (AdaBoost). The models were trained using a large data set of test results from the Joint ACI-ASCE Committee 408 database. The performance of the models was evaluated through a robust tenfold cross-validation method. Optimal parameters for each model were established through an extensive tuning process. The bond strengths predicted by the proposed models agree well with the experimental data. Their accuracy exceeds the accuracy of the available descriptive equations. The relative feature importance for predicting the bond strength was evaluated using the permutation and Shapley additive explanations (SHAP) methods for each model. Partial dependence of the bond force from the considered features was also presented and discussed. [ABSTRACT FROM AUTHOR]

Background: Alternative splicing provides a broad strategy to amplify the genome. Yet how alternative splicing influences neurodevelopment or indeed which variants are translated at developmental choice points remains poorly explored. Here we focused on a gene important for neurodevelopment, the Lim homeodomain transcription factor, Lhx9. Lhx9 has two noncanonical splice variants, Lhx9a and Lhx9b which compared with the canonical variant Lhx9c have a truncated homeodomain and an alternative C‐terminal sequence, suggesting that, if translated, these variants could differently impact on cellular function. Results: We created a unique antibody tool designed to selectively detect noncanonical Lhx9 variants (Lhx9ab) and used this to examine the protein expression dynamics in embryos. Lhx9ab variants were translated and dynamically expressed similarly between mouse and chicken at key developmental choice points in the spinal cord, limbs and urogenital ridge. Within the spinal cord, enrichment of Lhx9c vs Lhx9ab expression was observed during key migration and axonal projection choice points. Conclusions: These data support the notion that the expression dynamics between canonical and noncanonical Lhx9 variants could play an important role in spinal neuron maturation. More broadly, determining the temporal dynamics of alternative protein variants is a key entry point to understand how splicing influences developmental processes. Key Findings: The LIM homeodomain transcription factor Lhx9, which is important for neural development has two non‐canonical splice variants, Lhx9a and Lhx9b which compared with the canonical variant Lhx9c have a truncated homeodomain and alternative C‐terminal sequence.An antibody was created which selectively recognises the non‐canonical Lhx9 spice variants (Lhx9ab) which was used to determine the spatiotemporal expression of non‐canonical Lhx9 variants during mouse and chicken embryogenesis.It was discovered that Lhx9ab non‐canonical variants were translated and detected at key developmental choice points in the spinal cord, urogenital ridge and limbs in a partly overlapping and partially independent manner to Lhx9 canonical transcripts.Within the spinal cord, Lhx9ab protein was detected in dI1 neurons at key choice divergence points for dI1c and dI1i neural projections suggesting that the expression dynamics between canonical and non‐canonical Lhx9 variants could play an important role at key development choice points within the spinal cord.More broadly, determining the temporal dynamics of alternative protein variants is a key entry point to understand how splicing influences developmental processes. [ABSTRACT FROM AUTHOR]

Abstract Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient. Targeted next-generation and Sanger sequencing were performed to investigate and validate the gene mutation causing 46, XY DSD, respectively. In silico tools were used to predict the pathogenicity of the variant. Dual luciferase reporter gene assay and minigene splicing reporter assay were used to identify the pathogenicity of the variant. Results A novel heterozygous variant, c.244G>T (p.Ala82Ser), in NR5A1 gene was detected in the 46, XY DSD patient. Four of five silico tools predicting pathogenicity of missense variants indicated that the variant was pathogenic. However, in vitro functional study showed that p.Ala82Ser did not affect the transcriptional activity of NR5A1. In silico tools predicting the potential splicing loci revealed that c.244G>T led to aberrant splicing of NR5A1 RNA. Minigene splicing reporter assay confirmed that c.244G>T resulted in the deletion of exon2 or deletion of 19 nucleotides in 3′ end of exon2. Conclusions Mutation of c.244G>T in NR5A1 results in 46, XY DSD by inducing abnormal splicing of NR5A1 RNA instead of amino acid substitution of NR5A1.

BackgroundAcquired resistance to BRAF inhibitors (BRAFi) is a near-universal phenomenon caused by numerous genetic and non-genetic alterations. In this study, we evaluated the spectrum, onset, pattern of progression, and subsequent clinical outcomes associated with specific mechanisms of resistance.MethodsWe compiled clinical and genetic data from 100 patients with 132 tissue samples obtained at progression on BRAFi therapy from 3 large, previously published studies of BRAFi resistance. These samples were subjected to whole-exome sequencing and/or polymerase chain reaction-based genetic testing.ResultsAmong 132 samples, putative resistance mechanisms were identified in 58%, including NRAS or KRAS mutations (20%), BRAF splice variants (16%), BRAF(V600E/K) amplifications (13%), MEK1/2 mutations (7%), and non-mitogen-activated protein kinase pathway alterations (11%). Marked heterogeneity was observed within tumors and patients; 18 of 19 patients (95%) with more than one progression biopsy had distinct/unknown drivers of resistance between samples. NRAS mutations were associated with vemurafenib use (p = 0.045) and intracranial metastases (p = 0.036), and MEK1/2 mutations correlated with hepatic progression (p = 0.011). Progression-free survival and overall survival were similar across resistance mechanisms. The median survival after disease progression was 6.9 months, and responses to subsequent BRAF and MEK inhibition were uncommon (2 of 15; 13%). Post-progression outcomes did not correlate with specific acquired BRAFi-resistance mechanisms.ConclusionsThis is the first study to systematically characterise the clinical implications of particular acquired BRAFi-resistance mechanisms in patients with BRAF-mutant melanoma largest study to compile the landscape of resistance. Despite marked heterogeneity of resistance mechanisms within patients, NRAS mutations correlated with vemurafenib use and intracranial disease involvement.

Objective: To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD).Subjects and Methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient. Targeted next-generation and Sanger sequencing were performed to investigate and validate the gene mutation causing 46, XY DSD, respectively. In silico tools were used to predict the pathogenicity of the variant. Dual luciferase reporter gene assay and minigene splicing reporter assay were used to identify the pathogenicity of the variant.Results: A novel heterozygous variant, c.244G>T (p.Ala82Ser), in NR5A1 gene was detected in the 46, XY DSD patient. Four of five silico tools predicting pathogenicity of missense variants indicated that the variant was pathogenic. However, in vitro functional study showed that p.Ala82Ser did not affect the transcriptional activity of NR5A1. In silico tools predicting the potential splicing loci revealed that c.244G>T led to aberrant splicing of NR5A1 RNA. Minigene splicing reporter assay confirmed that c.244G>T resulted in the deletion of exon2 or deletion of 19 nucleotides in 3' end of exon2.Conclusions: Mutation of c.244G>T in NR5A1 results in 46, XY DSD by inducing abnormal splicing of NR5A1 RNA instead of amino acid substitution of NR5A1. [ABSTRACT FROM AUTHOR]

This paper reported a new method of side‐wiring bonding on glass substrate and patterned for large size micro‐LED display. In our experiment, the half hole first fabricated on the side edge of the glass substrate, then the metal was pasted on the side edge, through grounding the metal on the convex edge to form a side metal pattern, The results showed that this scheme can form a conductive side metal pattern for splicing large size micro LED display. This new side‐wiring bonding method can reduce the joint pitch between single glass substrate, and the metal in the hole can be better protected, so as to realize better large size micro LED splicing quality. [ABSTRACT FROM AUTHOR]

There are several tools, like algebraic polynomials, topological indices, graph energies, etc., to investigate the structural dependence of different properties and activities of chemical structures and networks. The M-polynomial is the most general algebraic polynomial to obtain a large number of degree-based topological indices for a certain family of structures or networks. The neighborhood M polynomial has the parallel role to the M-polynomial for the neighborhood degree sum based topological indices. In mathematical chemistry, topological indices are utilized as a useful tool to investigate different quantitative structure-property relationship (QSPR) and quantitative structure-activity relationship (QSAR) modellings. In this paper, the neighborhood M-polynomials of two types of metal-organic networks (MONs) is derived. From those results, some neighborhood degree sum based indices are recovered. The graphical representations of the results are also reported. [ABSTRACT FROM AUTHOR]

This paper presents the effects of inadequate splicing between glass fiber-reinforced polymer (GFRP) bars on high-performance concrete mixed with an internal curing agent, superabsorbent polymer (SAP). The lapped splice length varies from 0.2ld to 1.0ld, where ld is the basic development length determined by a design guide, while the amount of SAP ranges from 0% to 0.4% of the cement mass conforming to published literature. Ancillary tests are conducted to evaluate the hydro-physical properties of SAP. Upon loading 15 slabs under four-point bending, the load-carrying capacity, flexural behavior, failure details, and crack development associated with the variable lap lengths are studied, including SAP-splice interactions. The capacity and failure locations of the slabs are primarily controlled by the splice length, whereas the amount of SAP affects the stress development of the reinforcing bars. The service behavior of the slabs with a splice length of 0.4ld to 1.0ld is analogous until a splitting crack takes place, which differs from the behavior of the slabs with 0.2ld showing premature splice slippage and reinforcing bar dislocations. As the splice length of the slab increases, the capacity tends to be insensitive to the presence of SAP. Factorial analysis substantiates that the implications of the SAP amount and splice length, and their mutual dependency, are statistically significant at a 5% confidence level. In accordance with analytical modeling, the interfacial stress between the concrete and GFRP reinforcement asymptotically decays with the splice length, and influences the crack-localization and concrete-spalling of the slabs. A characteristic angle is derived and proposed to quantify the integrity of the splice. [ABSTRACT FROM AUTHOR]

Abstract Establishment of sedimentary sequence is essential for the interpretation of the sedimentary records. Integrated Ocean Drilling Program (IODP) Expedition (Exp.) 346 drilled high-quality sediment archives with more than three holes each at nine sites that enable us to establish continuous sedimentary sequences through splicing technique. After extensive efforts to replace the disturbed, missed, or duplicated intervals found in spliced sediment sequences constructed onboard during IODP Exp. 346 to the corresponding undisturbed intervals, nearly perfectly continuous sediment columns and physical property records for the Pleistocene intervals of Sites U1422-U1427 and U1430 collected from the Japan Sea have been established. Same kind of efforts to correct the shipboard splices were also achieved for Plio-Miocene intervals at Sites U1425 and U1430. The continuous records established for these sites will allow a much more detailed understanding of the long-term variability in East Asian paleoclimate and North Pacific oceanography.

Ito–Takimura recently defined a splice-unknotting number u − (D) for knot diagrams. They proved that this number provides an upper bound for the crosscap number of any prime knot, asking whether equality holds in the alternating case. We answer their question in the affirmative. (Ito has independently proven the same result.) As an application, we compute the crosscap numbers of all prime alternating knots through at least 13 crossings, using Gauss codes. [ABSTRACT FROM AUTHOR]

Sediment records from deep-drilling projects such as those carried out by the International Continental Scientific Drilling Program are often tens to hundreds of meters in length. To ensure the complete recovery of a stratigraphic section, a basin is usually cored multiple times in adjacent holes so that gaps between sequential cores, poorly recovered sections, or intervals affected by disturbance can be bridged or replaced with sediments from another hole. Stratigraphic correlation, the alignment of stratigraphically-equivalent horizons in cores from different holes in a common-depth scale, and splice generation, the integration of the most-representative core sections into a composite-stratigraphic section, are essential steps in this process to both evaluate and synthesize the recovered-sediment record and focus the scientific analyses. However, these undertakings can be complex and are inherently subjective, making the need for the development of a single robust stratigraphic section early in the project critical to its success. Despite this, the steps between core recovery and on-splice data generation are rarely published in sufficient detail to allow reconstruction, or refinement, of the composited record at a later date. To increase the transparency of how the composite record is created, and to provide a template for future projects, we detail the step-by-step approaches and decisions involved in generating the composite-depth scale and complete-stratigraphic splice following recovery of sediments from Lake Junín, Peru. We first explain the details and nuances of different drilling-depth scales before describing how we integrated different physical property records to generate the composite-depth scale and complete-stratigraphic splice. Here, we show that due to the complex stratigraphy in the Lake Junín sediments, high-resolution line-scan images of the cores offer millimeter-scale precision for construction of the primary-stratigraphic splice at a resolution not afforded by other physical property data. Finally, through comparison of the spliced record to physical-property records acquired in situ on the borehole, we demonstrate that the stratigraphic splice is an accurate representation of the sediment accumulated in the Lake Junín basin. [ABSTRACT FROM AUTHOR]

Background: Splicing is an important for regulation of gene expression in eukaryotes, and it has important functional links to other steps of gene expression. Two examples of these linkages include Ceg1, a component of the mRNA capping enzyme, and the chromatin elongation factors Spt4-5, both of which have recently been shown to play a role in the normal splicing of several genes in the yeast, S. cerevisiae.Principal Findings: Using a genomic approach to characterize the roles of Spt4-5 in splicing, we extended our observations of splicing defects in ceg1, spt4 and spt5 mutants to the entire collection of intron-containing genes, employing splicing-sensitive DNA microarrays. In the context of the complex experiment design, highlighted by 22 dye-swap array hybridizations comprised of both biological and technical replications, we applied four ANOVA mixed models and a semiparametric hierarchical mixture model. To refine selection of differentially expressed genes whose normal splicing depends on Ceg1 or Spt4-5, we used a more robust model- synthesizing statistic, Differential Expression via Distance Synthesis (DEDS), to integrate all five models. We further analyzed the list of differentially expressed genes and found that highly transcribed genes with long introns were most sensitive to the spt mutations.Conclusions: In this paper, we showcased splicing array technology and developed methodologies for their analysis in the context of a real, complex experimental design. Our result suggests that the Spt4-Spt5 complex may help coordinate splicing with transcription under conditions that present kinetic challenges to spliceosome assembly or function.

The article focuses on problems related to diagnosing splices in steel-cord conveyor belts. Data used for the analysis was acquired from belt core testing using the HRDS system. The measurement data served to extract and describe several parameters, whose values depend on the geometry and technical condition of the splice. Initial results have shown that evaluation of the technical condition of the splice can be performed using statistical analysis. • The research focused on the geometry of the splices. Splices which were made according to technical regulations and those which are not damaged should generate magnetic response symmetric across the whole width of the belt. Each defect such as lack of geometry, damaged/lack/incorrect shape of the cord affects the shape of the magnetic response. Larger deviations from the correct shape of the splice will result in higher asymmetry. • Applying statistical analysis implemented in MatLab allowed the extraction of five parameters for the evaluation of the technical condition of the splice. • Density function estimations for parameters SUM, RATIO, OFFSET, DTW and EM did not allow their classification. • The parameters require further research into their classification in order to establish first alarm thresholds for matrices obtained on the basis of magnetic signals from the splices. [ABSTRACT FROM AUTHOR]

Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic variants of ataxia‐telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies, and radiosensitivity. However, hypomorphic variants may be discovered associated with very atypical phenotypes, raising the importance of evaluating their pathogenic effects. In this study, multiple functional analyses were performed on lymphoblastoid cell lines from 36 patients, comprising 49 ATM variants, 24 being of uncertain significance. Thirteen patients with atypical phenotype and presumably hypomorphic variants were of particular interest to test strength of functional analyses and to highlight discrepancies with typical patients. Western‐blot combined with transcript analyses allowed the identification of one missing variant, confirmed suspected splice defects and revealed unsuspected minor transcripts. Subcellular localization analyses confirmed the low level and abnormal cytoplasmic localization of ATM for most A‐T cell lines. Interestingly, atypical patients had lower kinase defect and less altered cell‐cycle distribution after genotoxic stress than typical patients. In conclusion, this study demonstrated the pathogenic effects of the 49 variants, highlighted the strength of KAP1 phosphorylation test for pathogenicity assessment and allowed the establishment of the Ataxia‐TeLangiectasia Atypical Score to predict atypical phenotype. Altogether, we propose strategies for ATM variant detection and classification. [ABSTRACT FROM AUTHOR]

Pathogenic variants in the X‐chromosome Aristaless‐related homeobox (ARX) gene contribute to intellectual disability, epilepsy, and associated comorbidities in affected males. Here, we report a novel splice variant in ARX in a family with three affected individuals. The proband had early onset developmental and epileptic encephalopathy, his brother and mother had severe and mild intellectual disability, respectively. Massively parallel sequencing identified a novel c.1449‐1G>C in intron 4 of the ARX gene, predicted to abolish the splice acceptor site, retaining intron 4 and leading to a premature termination codon immediately after exon 4. As exon 5 is the last exon of the ARX gene, the premature termination codon at position p.L484* would be predicted to escape nonsense‐mediated mRNA decay, potentially producing at least some C‐terminally truncated protein. Analysis of cDNA from patient lymphoblastoid cells confirmed retention of intron 4 and loss of detectable expression of ARX mRNA across exon 4 to exon 5. We review published cases of variants that lead to altered or early termination of the ARX protein, but not complete loss of function, and are associated with phenotypes of intellectual disability and infantile onset developmental and epileptic encephalopathies, including Ohtahara and West syndromes. Taken together, this novel splice variant retaining intron 4 is likely to be the cause of the early onset developmental and epileptic encephalopathy in the proband. [ABSTRACT FROM AUTHOR]

Since 1980s, as the advantage of modular construction technology in avoiding the labor shortage, high human cost and strict environmental requirements of the construction place, some large construction companies of petroleum and natural gas engineering in developed countries have adopted it in quantities of engineer constructions, and their design and construction level both developed rapidly. At present, the modular design technology of large petrochemical industry and natural gas treatment device has not been mastered by domestic design companies. The modular design technology and skids were adopted only in the fields such as oil field ground engineering, medium and small natural gas treatment devices and so on. The scientific and systematic technical system has not been developed. Based on the analysis presented above, the project group of "modular design and construction technology research" of CNPC, based on a project of 300×108 m3/a natural gas treatment plant, has deeply studied the modular design technology, and clearly defined the concepts in the modular design process of petroleum and natural gas devices, including the skid, module, module/skid specification, modularization, module splice, pipe splice, ship loose and so on. The above concepts are rich in content, clear in extension and practical. It can meet the requirements of modular construction process. By analyzing above key concepts, it can help the engineering technicians to understand the basic concepts and principles of modular design, so as to guide them to the correct direction of modular design. [ABSTRACT FROM AUTHOR]

The structural performance of spliced, concrete-filled FRP tubes was evaluated. The splices consisted of an internal FRP collar adhesively bonded to the tube segments and a concrete reinforcing cage of carbon fiber composite cable (CFCC). Spliced beams were tested to determine the splice flexural capacity. Adhesive bond strength and CFCC development lengths were experimentally determined. Splice behavior was investigated with 3D finite-element models employing a modified concrete damage plasticity model and cohesive interfaces. Model predictions were in good agreement with the experiments; the predicted capacity was 13.8% greater than the 113.1 kN average failure load of the splice. [ABSTRACT FROM AUTHOR]

Splicing precast, prestressed concrete piles has historically been difficult because the attachment detail either requires preplanned considerations and cast-in connection details or requires onsite coring and doweling when unplanned pile extensions are needed. When the pile must be driven after splicing, the splice connection is prone to tensile failures due to the inability to transfer driving stresses through the connection into the other pile segment. Focusing on preplanned splices, the Florida Department of Transportation limits tension stresses during driving to 250 and 500 psi (1700 and 3400 kPa) for epoxy dowel splices and mechanical splices, respectively. This can limit the ability to efficiently drive the pile to the point that it may even be impossible. In response, an alternative pile splicing approach incorporating post-tensioning was developed. The concept eliminates the limitations on tension stresses during driving. This is the second of three papers that detail the development and implementation of this alternative approach. Specifically, it covers the full-scale field implementation and driving of a spliced pile and its comparison to a one-piece, unspliced pile. [ABSTRACT FROM AUTHOR]