bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Paternal &quot;Balanced&quot; Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings
Authors: Gökoğlu Mustafa , Yürür Kutlay Nüket , Altıner Şule 
Published: March 2023

Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least 3 breakpoints. CCRs can cause copy number variations (CNVs) resulting in developmental disorders, multiple congenital anomalies, and recurrent miscarriages. Developmental disorders are an important health problem affecting 1–3% of children. The underlying etiology can be explained by CNV analysis in 10–20% of children who have unexplained intellectual disability, developmental delay, and congenital anomalies. Here we report two siblings who were referred to us with intellectual disability, neurodevelopmental delay, happy demeanor, and craniofacial dysmorphism due to chromosome 2q22.1q24.1 duplication. Segregation analysis showed that the duplication originated from meiotic segregation of a paternal translocation between chromosomes 2 and 4 with chromosome 21q insertion. Considering that infertility is seen in many male individuals with CCRs, it is remarkable that the father does not have any fertility problems. Gain of chromosome 2q22.1q24.1 was responsible for the phenotype due to its size and presence of a gene with a probability of being triplosensitive. We corroborate the assumption that the major gene responsible for the phenotype in the 2q23.1 region is methyl-CpG-binding domain 5, MBD5.
A Scoping Review of the Metaverse for Software Engineering Education: Overview, Challenges, and Opportunities
Authors: Fernandes Filipe A. , Werner Cláudia M. L. 
Published: March 2023

Abstract
In the Software Engineering Education (SEE) context, virtual worlds have been used in order to improve learning outcomes. However, there is a gap in the literature in order to characterize the use of the Metaverse for SEE. The objective of this work is to characterize the state of the art of virtual worlds in SEE and provide research opportunities and challenges to fill the limitations found. We conducted a systematic literature review, and we established 8 research questions that guided the study, as well as performed data extraction. We report on 17 primary studies that deal mostly with immersive experiences in SEE. The results show some limitations: few Software Engineering (SE) topics are covered; most applications simulate environments and do not explore new ways of viewing and interacting; there is no interoperability between virtual worlds; learning analysis techniques are not applied; and biometric data are not considered in the validations of the studies. Although there are virtual worlds for SEE, the results indicate the need to develop mechanisms in order to support the integration between virtual worlds. Therefore, based on the findings of the review, we established a set of components grouped by 5 layers to enable the Metaverse for SEE through fundamental requirements. We hope that this work can motivate promising research in order to foster immersive learning experiences in SE through the Metaverse.
Let’s Unleash the Network Judgment: A Self-Supervised Approach for Cloud Image Analysis
Authors: Dematties Dario , Raut Bhupendra A. , Park Seongha , Jackson Robert C. , Shahkarami Sean , Kim Yongho , Sankaran Rajesh , Beckman Pete , Collis Scott M. , Ferrier Nicola 
Published: March 2023

Abstract
Accurate cloud type identification and coverage analysis are crucial in understanding the Earth’s radiative budget. Traditional computer vision methods rely on low-level visual features of clouds for estimating cloud coverage or sky conditions. Several handcrafted approaches have been proposed; however, scope for improvement still exists. Newer deep neural networks (DNNs) have demonstrated superior performance for cloud segmentation and categorization. These methods, however, need expert engineering intervention in the preprocessing steps—in the traditional methods—or human assistance in assigning cloud or clear sky labels to a pixel for training DNNs. Such human mediation imposes considerable time and labor costs. We present the application of a new self-supervised learning approach to autonomously extract relevant features from sky images captured by ground-based cameras, for the classification and segmentation of clouds. We evaluate a joint embedding architecture that uses self-knowledge distillation plus regularization. We use two datasets to demonstrate the network’s ability to classify and segment sky images—one with ∼ 85,000 images collected from our ground-based camera and another with 400 labeled images from the WSISEG database. We find that this approach can discriminate full-sky images based on cloud coverage, diurnal variation, and cloud base height. Furthermore, it semantically segments the cloud areas without labels. The approach shows competitive performance in all tested tasks,
suggesting a new alternative for cloud characterization.
A SmallSat Concept to Resolve Diurnal and Vertical Variations of Aerosols, Clouds, and Boundary Layer Height
Authors: Yorks John E. , Wang Jun , McGill Matthew J. , Follette-Cook Melanie , Nowottnick Edward P. , Reid Jeffrey S. , Colarco Peter R. , Zhang Jianglong , Kalashnikova Olga , Yu Hongbin , Marenco Franco , Santanello Joseph A. , Weckwerth Tammy M. , Li Zhanqing , Campbell James R. , Yang Ping , Diao Minghui , Noel Vincent , Meyer Kerry G. , Carr James L. , Garay Michael , Christian Kenneth , Bennedetti Angela , Ring Allison M. , Crawford Alice , Pavolonis Michael J. , Aquila Valentina , Kim Jhoon , Kondragunta Shobha 
Published: March 2023

Abstract
A SmallSat mission concept is formulated here to carry out Time-varying Optical Measurements of Clouds and Aerosol Transport (TOMCAT) from space while embracing low-cost opportunities enabled by the revolution in Earth science observation technologies. TOMCAT’s “around-the-clock” measurements will provide needed insights and strong synergy with existing Earth observation satellites to 1) statistically resolve diurnal and vertical variation of cirrus cloud properties (key to Earth’s radiation budget), 2) determine the impacts of regional and seasonal planetary boundary layer (PBL) diurnal variation on surface air quality and low-level cloud distributions, and 3) characterize smoke and dust emission processes impacting their long-range transport on the subseasonal to seasonal time scales. Clouds, aerosol particles, and the PBL play critical roles in Earth’s climate system at multiple spatiotemporal scales. Yet their vertical variations as a function of local time are poorly measured from space. Active sensors for profiling the atmosphere typically utilize sun-synchronous low-Earth orbits (LEO) with rather limited temporal and spatial coverage, inhibiting the characterization of spatiotemporal variability. Pairing compact active lidar and passive multiangle remote sensing technologies from an inclined LEO platform enables measurements of the diurnal and vertical variability of aerosols, clouds, and aerosol-mixing-layer (or PBL) height in tropical-to-midlatitude regions where most of the world’s population resides. TOMCAT is conceived to bring potential societal benefits by delivering its data products in near–real time and offering on-demand hazard-monitoring capabilities to profile fire injection of smoke particles, the frontal lofting of dust particles, and the eruptive rise of volcanic plumes.
A Statistical Downscaling Model Based on Multiway Functional Principal Component Analysis for Southern Australia Winter Rainfall
Authors: Cao Shuren , Cao Chunzheng , Li Yun , Zhu Lianhua 
Published: March 2023

Abstract
We propose a statistical downscaling model based on multiway functional principal component analysis (FPCA) for rainfall prediction. The model mainly explains the relationship between the winter mean sea level pressure (MSLP) and rainfall in southern Australia from the perspective of functional data. In comparison with the traditional approach of feature extraction based on principal component analysis, the multiway FPCA needs fewer principal components not only to capture the most variance in MSLP but also to greatly avoid the loss of spatial information. A functional principal component (FPC) regression is further developed to simulate both current and future rainfall. The main results show that the first five leading FPCs are sufficient to capture the spatial characteristics of winter MSLP, achieving the purpose of efficient dimensionality reduction. Specifically, no more than three FPCs are required to develop the functional downscaling models for the winter rainfall over four studied regions. The functional downscaling model provides a good skill in terms of the correlation higher than 0.7 between the predictions and observations and the ratio of root-mean-square error to the climatology of winter rainfall below 20% over four regions. The developed downscaling models are further used to interpret the MSLP patterns from four CMIP5 climate models [ACCESS1.3, BCC_CSM1.1(m), CESM1(CAM5), and MPI-ESM-MR], which have been used to simulate both present-day and future climate. The resulting downscaled values based on ensemble MSLP provide 1) a closer representation of observed present-day rainfall than the raw climate model values and 2) alternative estimates of future changes in rainfall that arise from changes in MSLP.
Dipole Response of Millennial Variability in Tropical South American Precipitation and δ18Op during the Last Deglaciation. Part II: δ18Op Response
Authors: Bao Yuntao , Liu Zhengyu , He Chengfei 
Published: March 2023

Abstract
Understanding the hydroclimate representations of precipitation δ18O (δ18Op) in tropical South America (TSA) is crucial for climate reconstruction from available speleothem caves. Our preceding study (Part I) highlights a heterogeneous response in millennial hydroclimate over the TSA during the last deglaciation (20–11 ka before present), characterized by a northwest–southeast (NW–SE) dipole in both rainfall and δ18Op, with opposite signs between central-western Amazon and eastern Brazil. Mechanisms of such δ18Op dipole response are further investigated in this study with the aid of moisture tagging simulations. In response to increased meltwater discharge, the intertropical convergence zone (ITCZ) migrates southward, causing a moisture source location shift and depleting the isotopic value of the vapor transported into eastern Brazil, which almost entirely contributes to the δ18Op depletion in eastern Brazil (SE pole). In contrast, the moisture source location change and local condensation change (due to the lowering convergence level and increased rain reevaporation in unsaturated subcloud layers) contribute nearly equally to the δ18Op enrichment in the central-western Amazon (NW pole). Therefore, although a clear inverse relationship between δ18Op and rainfall in both dipole regions seems to support the “amount effect,” we argue that the local rainfall amount only partially interprets the millennial δ18Op change in the central-western Amazon, while δ18Op does not document local rainfall change in eastern Brazil. Thus, the paleoclimate community should be cautious when using δ18Op as a proxy for past local precipitation in the TSA region. Finally, we discuss the discrepancy between the model and speleothem proxies on capturing the millennial δ18Op dipole response and pose a challenge in reconciling the discrepancy.

Significance Statement
We want to comprehensively understand the hydroclimate footprints of δ18Op and the mechanisms of the millennial variability of δ18Op over tropical South America with the help of water tagging experiments performed by the isotope-enabled Community Earth System Model (iCESM). We argue that the millennial δ18Op change in eastern Brazil mainly documents the moisture source location change associated with ITCZ migration and the change of the isotopic value of the incoming water vapor, instead of the local rainfall amount. In contrast, the central-western Amazon partially documents the moisture source location shift and local precipitation change. Our study cautions that one should not simply resort to the isotopic “amount effect” to reconstruct past precipitation in tropical regions without studying the mechanisms behind it.
Effect of radiative and nonradiative energy transfer processes of light-emitting diodes combined with quantum dots for visible light communication
Authors: Chiang Wen-Hao , Chang Yu-Hsiang , Lin Chien-Chung , Kuo Hao-Chung , Lin Gong-Ru , Huang Jian-Jang 
Published: March 2023

AbstractThough light-emitting diodes (LEDs) combined with various color conversion techniques have been widely explored for VLC (visible light communication), E-O (electro-optical) frequency responses of devices with quantum dots (QDs) embedded within the nanoholes have rarely been addressed. Here we propose LEDs with embedded photonic crystal (PhC) nanohole patterns and green light QDs for studying small-signal E-O frequency bandwidths and large signal on–off keying E-O responses. We observe that the E-O modulation quality of PhC LEDs with QDs is better than a conventional LED with QDs when the overall blue mixed with green light output signal is considered. However, the optical response of only QD converted green light shows a contradictory result. The slower E-O conversion response is attributed to multi-path green light generation from both radiative and nonradiative energy transfer processes for QDs coated on the PhC LEDs.
The curious case of testicular descent: factors controlling testicular descent with a note on cryptorchidism
Authors: Reny Sumi Elizebeth , Mukherjee Aruna , Mol P. Mini 
Published: March 2023

AbstractBackgroundThe testicular descent is a uniquely complex process depending upon multiple factors like growth and reorganisation of the specific gonadal ligaments, hormones, etc., which interplay with each other. Though an unambiguous event, it is still laced with incredulity since the data interpretation were intermingled between different species creating more ambiguity in certain aspects of this process. In order to understand the aetiopathology of cryptorchidism the extensive study of the factors controlling the descent is necessitous.Main bodyThough testes originate in the abdomen, they migrate to an extra abdominal site the scrotum, which makes it vulnerable to pathological conditions associated with the descent. The hormones that play vital role in the first phase of descent are insulin-like hormone 3 (INSL3), Anti-müllerian hormone as well as testosterone, whereas androgens, genitofemoral nerve and its neurotransmitter calcitonin gene-related peptide (CGRP) influence the second phase. Despite the vast research regarding the complex nexus of events involving the descent there are disparities among the cross species studies. However all these discrepancies make testicular descent yet again fascinating and perplexing. Our aim is to provide a comprehensive review including recent advances which provides thorough coverage of anatomical and hormonal factors in the descent as well as cryptorchidism.ConclusionThough our understanding on testicular descent has evolved over the decades there still has obscurity surrounding it and the studies on the factors responsible for descent are becoming more intense with the time. Our knowledge on many factors such as INSL3 and CGRP is more established now; however, on the other hand the role of androgens still remains speculative. As the knowledge and understanding of the biological process of testicular descent increases it will pave ways to new treatment plans to treat cryptorchidism more effectively.
Whole-genome sequencing of cryopreserved resources from French Large White pigs at two distinct sampling times reveals strong signatures of convergent and divergent selection between the dam and sire lines
Authors: Boitard Simon , Liaubet Laurence , Paris Cyriel , Fève Katia , Dehais Patrice , Bouquet Alban , Riquet Juliette , Mercat Marie-José 
Published: March 2023

AbstractBackgroundNumerous genomic scans for positive selection have been performed in livestock species within the last decade, but often a detailed characterization of the detected regions (gene or trait under selection, timing of selection events) is lacking. Cryopreserved resources stored in reproductive or DNA gene banks offer a great opportunity to improve this characterization by providing direct access to recent allele frequency dynamics, thereby differentiating between signatures from recent breeding objectives and those related to more ancient selection constraints. Improved characterization can also be achieved by using next-generation sequencing data, which helps narrowing the size of the detected regions while reducing the number of associated candidate genes.MethodsWe estimated genetic diversity and detected signatures of recent selection in French Large White pigs by sequencing the genomes of 36 animals from three distinct cryopreserved samples: two recent samples from dam (LWD) and sire (LWS) lines, which had diverged from 1995 and were selected under partly different objectives, and an older sample from 1977 prior to the divergence.ResultsFrench LWD and LWS lines have lost approximately 5% of the SNPs that segregated in the 1977 ancestral population. Thirty-eight genomic regions under recent selection were detected in these lines and the corresponding selection events were further classified as convergent between lines (18 regions), divergent between lines (10 regions), specific to the dam line (6 regions) or specific to the sire line (4 regions). Several biological functions were found to be significantly enriched among the genes included in these regions: body size, body weight and growth regardless of the category, early life survival and calcium metabolism more specifically in the signatures in the dam line and lipid and glycogen metabolism more specifically in the signatures in the sire line. Recent selection onIGF2was confirmed and several other regions were linked to a single candidate gene (ARHGAP10,BMPR1B,GNA14,KATNA1,LPIN1,PKP1,PTH,SEMA3EorZC3HAV1, among others).ConclusionsThese results illustrate that sequencing the genome of animals at several recent time points generates considerable insight into the traits, genes and variants under recent selection in a population. This approach could be applied to other livestock populations, e.g. by exploiting the rich biological resources stored in cryobanks.
A clinical phase I dose-finding design with adaptive shrinking boundaries for drug combination trials
Authors: Li Zhaohang , Xu Ze , Zhang Aijun , Qi Guanpeng , Li Zuojing 
Published: March 2023

Abstract
Background
Combinations of drugs are becoming increasingly common in oncology treatment. In some cases, patients can benefit from the interaction between two drugs, although there is usually a higher risk of developing toxicity. Due to drug–drug interactions, multidrug combinations often exhibit different toxicity profiles than those of single drugs, leading to a complex trial scenario. Numerous methods have been proposed for the design of phase I drug combination trials. For example, the two-dimensional Bayesian optimal interval design for combination drug (BOINcomb) is simple to implement and has desirable performance. However, in scenarios where the lowest and starting dose is close to being toxic, the BOINcomb design may tend to allocate more patients to overly toxic doses, and select an overly toxic dose combination as the maximum tolerated dose combination.

Method
To improve the performance of BOINcomb in the above extreme scenarios, we widen the range of variation of the boundaries by setting the self-shrinking dose escalation and de-escalation boundaries. We refer to the new design as adaptive shrinking Bayesian optimal interval design for combination drug (asBOINcomb). We conduct a simulation study to evaluate the performance of the proposed design using a real clinical trial example.

Results
Our simulation results show that asBOINcomb is more accurate and stable than BOINcomb, especially in some extreme scenarios. Specifically, in all ten scenarios, the percentage of correct selection is higher than the BOINcomb design within 30 to 60 patients.

Conclusion
The proposed asBOINcomb design is transparent and simple to implement and can reduce the trial sample size while maintaining accuracy compared with the BOINcomb design.
Effect of the ratios of estradiol increase on the outcome of in vitro fertilization-embryo transfer with antagonist regimens: a single center retrospective cohort study
Authors: Wei Chun-Xiao , Zhang Liang , Pang Cong-Hui , Qi Ying-Hua , Zhang Jian-Wei 
Published: March 2023

Abstract
Background
The outcome of in vitro fertilization-embryo transfer (IVF) is often determined according to follicle and estradiol levels following gonadotropin stimulation. In previous studies, although most of them analyzed the estrogen level from ovaries or the average estrogen level of a single follicle, there was no study on the ratio of estrogen increase, which was also correlated with pregnancy outcomes in the clinic. This study aimed to make timely adjustments to follow-up medication to improve clinical outcomes based on the potential value of estradiol growth rate.

Methods
We comprehensively analyzed estrogen growth during the entire ovarian stimulation period. Serum estradiol levels were measured on the day of gonadotropin treatment (Gn1), five days later (Gn5), eight days later (Gn8), and on the trigger day (HCG). This ratio was used to determine the increase in estradiol levels. According to the ratio of estradiol increase, the patients were divided into four groups: A1 (Gn5/Gn1 ≤ 6.44), A2 (6.44 < Gn5/Gn1 ≤ 10.62), A3 (10.62 < Gn5/Gn1 ≤ 21.33), and A4 (Gn5/Gn1 > 21.33); B1 (Gn8/Gn5 ≤ 2.39), B2 (2.39 < Gn8/Gn5 ≤ 3.03), B3 (3.03 < Gn8/Gn5 ≤ 3.84), and B4 (Gn8/Gn5 > 3.84). We analyzed and compared the relationship between data in each group and pregnancy outcomes.

Results
In the statistical analysis, the estradiol levels of Gn5 (P = 0.029, P = 0.042), Gn8 (P < 0.001, P = 0.001), and HCG (P < 0.001, P = 0.002), as well as Gn5/Gn1 (P = 0.004, P = 0.006), Gn8/Gn5 (P = 0.001, P = 0.002), and HCG/Gn1 (P < 0.001, P < 0.001) both had clinical guiding significance, and lower one significantly reduced the pregnancy rate. The outcomes were positively linked to groups A (P = 0.036, P = 0.043) and B (P = 0.014, P = 0.013), respectively. The logistical regression analysis revealed that group A1 (OR = 0.376 [0.182–0.779]; P = 0.008*, OR = 0.401 [0.188–0.857]; P = 0.018*) and B1 (OR = 0.363 [0.179–0.735]; P = 0.005*, OR = 0.389 [0.187–0.808]; P = 0.011*) had opposite influence on outcomes.

Conclusion
Maintaining a serum estradiol increase ratio of at least 6.44 on Gn5/Gn1 and 2.39 on Gn8/Gn5 may result in a higher pregnancy rate, especially in young people.