bluuebunny/crossref_metadata_2025_split huggingface dataset:
DiGeorge Syndrome: Prenatal Diagnosis and Outcome in a Tertiary Care Fetal Medicine Center
Authors: Mahajan Rahul , Elayedatt Rinshi , Krishnan Vivek 
Published: September 2024

Abstract
Introduction DiGeorge syndrome (DGS), caused by defects during embryonic development, is primarily sporadic and detectable via prenatal ultrasound, which reveals features like cardiovascular abnormalities and thymic hypoplasia. Early diagnosis of deletion 22q11.2 aids in effective prenatal, perinatal, and postnatal care management.
Objectives The aim of this series was to delineate the common and unusual sonographic abnormalities as well as outcomes of prenatally diagnosed DiGeorge fetuses from a single tertiary care center.
Methods This is a single center retrospective study of eight fetuses detected in the mid trimester between 2012 and 2020. They were evaluated extensively for anatomic anomalies on ultrasound and diagnosed deletion 22q11.2 using fluorescence in situ hybridization or microarray based comparative genomic hybridization.
Results Congenital heart disease (CHD) was the primary indication for evaluation in six of eight fetuses, while one had a strong family history of DGS. The mean maternal age and gestational age were 33 years 4 months and 19 weeks 3 days, respectively. The majority (5 of 8) had conotruncal heart defects. Three of eight fetuses had extracardiac findings in varying combinations. Hypoplasia of the thymus and small for gestational age were common findings in three of eight fetuses. Lesser known associations like congenital talipes equinovarus (CTEV), choroid plexus (CP) cysts, and clenched fists with pointing index finger were noted in one fetus each, thereby expanding the fetal phenotypic spectrum. Four of eight of the families decided to terminate the pregnancy. Two of eight babies expired and the two surviving infants are doing well with near normal developmental milestones.
Conclusion Though conotruncal CHD is the most consistent finding in DGS prenatally, CTEV, polyhydramnios, clenched fists with pointing index finger, and CP cyst in association with other subtle fetal markers in the absence of CHD should raise a high index of suspicion of DGS prenatally. Early and prompt diagnosis is imperative for counseling families, enabling them in decision making, and to garner knowledge about anticipatory postnatal care.
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors
Authors: Xu Chunwei , Lian Bin , Ou Juanjuan , Wang Qian , Wang Wenxian , Wang Ke , Wang Dong , Song Zhengbo , Liu Aijun , Yu Jinpu , Zhong Wenzhao , Wang Zhijie , Zhang Yongchang , Liu Jingjing , Zhang Shirong , Cai Xiuyu , Liu Anwen , Li Wen , Mao Lili , Zhan Ping , Liu Hongbing , Lv Tangfeng , Miao Liyun , Min Lingfeng , Chen Yu , Yuan Jingping , Wang Feng , Jiang Zhansheng , Lin Gen , Huang Long , Pu Xingxiang , Lin Rongbo , Liu Weifeng , Rao Chuangzhou , Lv Dongqing , Yu Zongyang , Li Xiaoyan , Tang Chuanhao , Zhou Chengzhi , Zhang Junping , Xue Junli , Guo Hui , Chu Qian , Meng Rui , Wu Jingxun , Zhang Rui , Zhou Jin , Zhu Zhengfei , Li Yongheng , Qiu Hong , Xia Fan , Lu Yuanyuan , Chen Xiaofeng , Ge Rui , Dai Enyong , Han Yu , Pan Weiwei , Pang Fei , Huang Jintao , Wang Kai , Wu Fan , Xu Bingwei , Wang Liping , Zhu Youcai , Lin Li , Xie Yanru , Lin Xinqing , Cai Jing , Xu Ling , Li Jisheng , Jiao Xiaodong , Li Kainan , Wei Jia , Feng Huijing , Wang Lin , Du Yingying , Yao Wang , Shi Xuefei , Niu Xiaomin , Yuan Dongmei , Yao Yanwen , Huang Jianhui , Feng Yue , Zhang Yinbin , Sun Pingli , Wang Hong , Ye Mingxiang , Wang Zhaofeng , Hao Yue , Wang Zhen , Wan Bin , Lv Donglai , Zhai Zhanqiang , Yang Shengjie , Kang Jing , Zhang Jiatao , Zhang Chao , Shi Lin , Wang Yina , Li Bihui , Zhang Zhang , Li Zhongwu , Liu Zhefeng , Yang Nong , Wu Lin , Wang Huijuan , Jin Gu , Wang Guansong , Wang Jiandong , Fang Meiyu , Fang Yong , Li Yuan , Wang Xiaojia , Chen Jing , Zhang Yiping , Zhu Xixu , Shen Yi , Ma Shenglin , Wang Biyun , Si Lu , Lu Yuanzhi , Li Ziming , Fang Wenfeng , Song Yong 
Published: September 2024

AbstractThe fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations, including amplification, fusion, and mutation, can disrupt epigenetics, transcriptional regulation, and tumor microenvironment interactions, leading to cancer development. Targeting these kinase mutations with small molecule drugs or antibodies has shown clinical benefits. For example, erdafitinib is approved for treating locally advanced or metastatic urothelial cancer patients with FGFR2/FGFR3 mutations, and pemigatinib is approved for treating cholangiocarcinoma with FGFR2 fusion/rearrangement. Effective screening of FGFR variant patients is crucial for the clinical application of FGFR inhibitors. Various detection methods, such as polymerase chain reaction, next-generation sequencing, fluorescence in situ hybridization, and immunohistochemistry, are available, and their selection should be based on diagnostic and treatment decision-making needs. Our developed expert consensus aims to standardize the diagnosis and treatment process for FGFR gene mutations and facilitate the practical application of FGFR inhibitors in clinical practice.
Emergency Department Applications of Inflammatory Markers: A Narrative Review
Authors: Özdemir Serdar 
Published: September 2024

AbstractThis is a narrative review of the role and applications of inflammatory markers in emergency departments, emphasizing their significance in rapid and accurate assessment of patients with urgent health concerns. The markers discussed include C-reactive protein (CRP), white blood cell count, erythrocyte sedimentation rate (ESR), procalcitonin, and serum amyloid A (SAA). Each of these markers has certain physiological roles. CRP serves as a crucial acute-phase reactant in response to inflammatory signals, while white blood cell count plays a vital role in immune response. ESR acts as a nonspecific marker of inflammation, with procalcitonin being elevated in bacterial infections, whereas SAA responds to inflammation and infection. These markers have several roles in the emergency departments. CRP plays a key role as an infection marker and is used in monitoring inflammatory conditions and tissue damage. White blood cell count is highlighted for its utility in evaluating various conditions, including infections, inflammations, autoimmune diseases, and sepsis. ESR is a diagnostic tool in emergency settings for assessing and monitoring inflammatory conditions. Procalcitonin's diagnostic specificity for bacterial infections is underscored, aiding in prompt and accurate diagnosis in emergency situations. SAA, as an acute-phase protein, has a role in inflammation and, infection responses, with applications in evaluating infections, monitoring inflammatory diseases, diagnosing and monitoring sepsis, and assessing other inflammation-related conditions. In conclusion, SAA has diverse applications in emergency departments, offering valuable insights into infection detection, monitoring chronic inflammatory diseases, diagnosing sepsis, evaluating inflammation-related conditions, and providing rapid insights in emergency scenarios. The importance of these inflammatory markers in enhancing diagnostic accuracy, guiding treatment decisions, and optimizing patient care in critical situations is emphasized throughout the review.
Mechanism of Genome Editing Tools and Their Application on Genetic Inheritance Disorders
Authors: Oh Dae Hwan 
Published: September 2024

AbstractIn the fields of medicine and bioscience, gene editing is increasingly recognized as a promising therapeutic approach for treating pathogenic variants in humans and other living organisms. With advancements in technology and knowledge, it is now understood that most genetic defects are caused by single-base pair variants. The ability to substitute genes using genome editing tools enables scientists and doctors to cure genetic diseases and disorders. Starting with CRISPR (clustered regularly interspaced short palindromic repeats)/Cas, the technology has evolved to become more efficient and safer, leading to the development of base and prime editors. Furthermore, various approaches are used to treat genetic disorders such as hemophilia, cystic fibrosis, and Duchenne muscular dystrophy. As previously mentioned, most genetic defects leading to specific diseases are caused by single-base pair variants, which can occur at many locations in corresponding gene, potentially causing the same disease. This means that, even when using the same genome editing tool, results in terms of editing efficiency or treatment effectiveness may differ. Therefore, different approaches may need to be applied to different types of diseases. Prevalently, due to the safety of adeno-associated virus (AAV) vectors in gene therapy, most clinical trials of gene therapy are based on AAV delivery methods. However, despite their safety and nonintegration into the host genome, their limitations, such as confined capacity, dosage-dependent viral toxicity, and immunogenicity, necessitate the development of new approaches to enhance treatment effects. This review provides the structure and function of each CRISPR-based gene editing tool and focuses on introducing new approaches in gene therapy associated with improving treatment efficiency.
Synthesis and optical properties of perovskite nanocrystals in glass with cationic substitution
Authors: Kuznetsova Maria S. , Kolobkova Elena V. , Bataev Matvey N. , Berdnikov Vladimir S. , Pankin Dmitrii V. , Smirnov Mikhail B. , Ubyivovk Evgenii V. , Ignatiev Ivan V. 
Published: September 2024

The effect of cadmium ions introduced into fluorophosphate glass on the growth and photoluminescence (PL) of the CsPb1–xCdxBr3 perovskite nanocrystals (NCs) is systematically studied. The x-ray diffraction patterns have shown that cadmium ions are really incorporated into the NCs that results in a decrease in the lattice constant from 5.85 (x = 0) to 5.75 Å (x = 0.45). At the large cadmium content in the glass (x &gt; 0.38), simultaneous formation of the perovskite CsPb1–xCdxBr3 NCs and the non-luminescent CsCdBr3 NCs in the hexagonal phase is found. It is also found that the lattice contraction leads to an increase in the bandgap energy and a noticeable shift of the PL band to the blue region of the spectrum (from 2.42 to 2.68 eV) with a drop in quantum yield from 85% for CsPbBr3 NCs down to 4% for CsPb0.55Cd0.45Br3 NCs. It is shown that the PL quantum yield decreases due to the formation of deep trap states, which manifest themselves as a PL band in the energy range of 1.6–2.5 eV at cryogenic temperatures. A simple model explaining the behavior of the PL band as a function of temperature in the range from 30 to 300 K is proposed.
Influence of interstitial cluster families on post-synthesis defect manipulation and purification of oxides using submerged surfaces
Authors: Jeong Heonjae , Seebauer Edmund G. 
Published: September 2024

Injection of interstitial atoms by specially prepared surfaces submerged in liquid water near room temperature offers an attractive approach for post-synthesis defect manipulation and isotopic purification in device structures. However, this approach can be limited by trapping reactions that form small defect clusters. The compositions and dissociation barriers of such clusters remain mostly unknown. This communication seeks to address this gap by measuring the dissociation energies of oxygen interstitial traps in rutile TiO2 and wurtzite ZnO exposed to liquid water. Isotopic self-diffusion measurements using 18O, combined with progressive annealing protocols, suggest the traps are small interstitial clusters with dissociation energies ranging from 1.3 to 1.9 eV. These clusters may comprise a family incorporating various numbers, compositions, and configurations of O and H atoms; however, in TiO2, native interstitial clusters left over from initial synthesis may also play a role. Families of small clusters are probably common in semiconducting oxides and have several consequences for post-synthesis defect manipulation and purification of semiconductors using submerged surfaces.
Wearable self-powered motion sensor based on biomass carbon-dots/polyvinyl alcohol film
Authors: Cai Tingting , Yang Yun , Zhang Gaiqing , Zhao Yifan , Kong Lingyue 
Published: September 2024

The functionalized polymer with scalable properties presents a promising option for flexible triboelectric nanogenerators designed for detecting human motion. In this study, a novel method to fabricate tribopositive composite film was proposed by incorporating high permittivity N-doped orange peel-based carbon dots (O-CDs) into the highly cross-linked polyvinyl alcohol (PVA). The O-CDs/PVA sensor showed elevated electrical output with the raised content of O-CDs until 1.5 wt. % with a peak voltage of 3.5 V. The response characteristics under various external force conditions were tested, and the maximum peak voltage and current reached 3.92 V and 28.6 A under the force of 50 N. Moreover, O-CDs/PVA sensors present superior high-output stability, durability, and accurate distinction to different movement states, even the vocal cord vibration. By introducing the support vector machine learning algorithm, intelligent gesture recognition was achieved. This work paves a facile, feasible, and scalable pathway to the self-powered human motion sensor device.
When left dislocation meets epithets
Authors: Li Ningxian 
Published: September 2024

Abstract
In Spanish syntax, a clitic left-dislocated constituent may incorporate a coreferential epithet
within the sentence, along with a clitic as a resumptive element. In previous research, there exist three approaches
to the relationships among the dislocated constituent, the clitic, and the epithet. The first suggests the dislocated
constituent is originally generated in its surface position. The second argues it originates in a small clause with
the epithet, then moves to the left periphery. The third contends the constituent is part of a distinct clause,
truncated by ellipsis. This study examines ditransitive verb structures featuring epithets in Peninsular Spanish,
advocating that the left dislocation with an internal epithet results from syntactic movement, contributing new
insights to this ongoing debate.
The influence of temporal adverbials and lexical aspect on variable preterite and imperfect selection in native and
second language Spanish
Authors: Blaker Nicholas M. 
Published: September 2024

Abstract
This study adopts a variationist approach to SLA to investigate the influence of temporal
adverbials and lexical aspect on variable preterite and imperfect selection. A total of 110 L2 Spanish learners at
varying proficiency levels and 15 native speakers of Spanish completed a contextualized preference task that examined
the influence of both independent linguistic variables on the selection of preterite, imperfect and both. Results
for frequency of selection showed that learners overselected the imperfect and both in contexts where
NSs categorically selected the preterite. Mixed-effects logistic regressions indicated that both factors influenced
NSs’ selections, but not always for learners. NS variation with states and frequency adverbials is discussed and
avenues for additional research are presented.
Optical Mode Entanglement Generation from an Optomechanical Nanobeam
Authors: Cai 蔡 Qi-Zhi 淇智 , Fan 樊 Bo-Yu 博宇 , Fan 范 Yun-Ru 云茹 , Deng 邓 Guang-Wei 光伟 , Wang 王 You 浟 , Song 宋 Hai-Zhi 海智 , Guo 郭 Guang-Can 光灿 , Zhou 周 Qiang 强 
Published: September 2024

Abstract
Nano-optomechanical systems, capable of supporting enhanced light-matter interactions, have wide applications in studying quantum entanglement and quantum information processors. Yet, preparing optical telecom-band entanglement within a single optomechanical nanobeam remains blank. We propose and design a triply resonant optomechanical nanobeam to generate steady-state entangled propagating optical modes and present its quantum-enhanced performance for teleportation-based quantum state transfer under realistic conditions. Remarkably, the entanglement quantified by logarithmic negativity can obtain E
N = 1. Furthermore, with structural imperfections induced by realistic fabrication processes considered, the device still shows great robustness. Together with quantum interfaces between mechanical motion and solid-state qubit processors, the proposed device potentially paves the way for versatile nodes in long-distance quantum networks.
Pathfinding Pulsar Observations with the CVN Incorporating the FAST
Authors: Yan 闫 Zhen 振 , Shen 沈 Zhiqiang 志强 , Jiang 姜 Peng 鹏 , Zhang 张 Bo 波 , Zhang 张 Haiyan 海燕 , Cui 崔 Lang 朗 , Luo 罗 Jintao 近涛 , Chen 陈 Rurong 如荣 , Jiang 江 Wu 悟 , Zhang 张 Hua 华 , Wu 吴 De 徳 , Zhao 赵 Rongbing 融冰 , Yuan 袁 Jianping 建平 , Hu 胡 Yue 悦 , Wu 吴 Yajun 亚军 , Xia 夏 Bo 博 , Li 李 Guanghui 光辉 , Rao 饶 Yongnan 永南 , Chen 陈 Chenyu 晨雨 , Wang 王 Xiaowei 啸威 , Ding 丁 Hao 浩 , Liu 刘 Yongpeng 永朋 , Zhang 张 Fuchen 馥臣 , Jiang 蒋 Yongbin 甬斌 
Published: September 2024

Abstract
The importance of Very Long Baseline Interferometry (VLBI) for pulsar research is becoming increasingly prominent and receiving more and more attention. We present the pathfinding pulsar observation results with the Chinese VLBI Network (CVN) incorporating the Five-hundred-meter Aperture Spherical radio Telescope (FAST). On MJD 60045 (11th April 2023), PSRs B0919+06 and B1133+16 were observed with the phase-referencing mode in the L-band using four radio telescopes (FAST, TianMa, Haoping, and Nanshan) and correlated with the pulsar binning mode of the distributed FX-style software correlator in Shanghai. After further data processing with the NRAO Astronomical Image Processing System (AIPS), we detected these two pulsars and fitted their current positions with accuracy at the milliarcsecond level. By comparison, our results show significantly better agreement with predicted values based on historical VLBI observations than those with previous timing observations, as pulsar astrometry with the VLBI provides a more direct and model-independent method for accurately obtaining related parameters.
Graviton-photon oscillations as a probe of quantum gravity
Authors: Palessandro Andrea 
Published: September 2024

Abstract
The Gertsenshtein effect could in principle be used to detect a single graviton by firing it through a region filled with a constant magnetic field that enables its conversion to a photon, which can be efficiently detected via standard techniques. The quantization of the gravitational field could then be inferred indirectly. We show that for currently available single-photon detector technology, the Gertsenshtein detector is generically inefficient, meaning that the probability of detection is

≪
1

. The Gertsenshtein detector can become efficient on astrophysical scales for futuristic single-photon detectors sensitive to frequencies in the Hz to kHz range. It is not clear whether such devices are in principle possible.
AdaTL1: an adaptive non-convex sparse solver with applications to CT reconstruction and image denoising
Authors: Najiya K Z , Sastry C S 
Published: September 2024

Abstract
Sparsity-promoting optimization techniques have, in recent years, gained prominence due to the availability of efficient solvers and their capability to efficiently use inherent duplication present in underlying data. In clinical Tomography, a faithful reconstruction of the cross-section of an object or image from a reduced set of x-ray attenuation samples attains importance. Though sparsity methods in Computed Tomography (CT) have already been well attended to, there is still a need for newer ideas that accommodate the highly coherent nature of the sub-sampled Radon matrix and incorporate adaptive information into the recovery process. To this end, we propose an adaptive transformed L
1 minimization (referred to as AdaTL
1), which being a non-convex problem is a generalization of transformed L
1 minimization. We discuss the recovery guarantees of AdaTL
1 and propose its solver. Further, we compare and contrast its performance against the known methods in the reconstruction of CT as well as the denoising of images.
The effects of vacancy ordering on diffusion: a statistical study
Authors: Stotts J Carter , Tang Xiaochuan , Thompson Gregory B , Weinberger Christopher R 
Published: September 2024

Abstract
In this paper we investigate the interconnection between vacancy-ordered phases and vacancy self-diffusion. Here, we investigate three ordered phases on a square lattice with energetics defined by two separate Hamiltonians. In the first case we used a classical antiferromagnetic Ising model Hamiltonian in order to generate a ‘checkerboard’ type ordered structure. In the second case, we used a modified Ising model with competing influence of second and third nearest-neighbors, which resulted in both ‘hatch’ and ‘labyrinthine’ structures, depending on concentration. To understand how vacancy-ordering affects diffusion, we determined the tracer diffusivity using rejection-free kinetic Monte Carlo and compared disordered and ordered structures. Finally, we developed an analytical model describing diffusion in the ordered ‘checkerboard’ structure and found that it was able to predict apparent activation energies in the ordered and disordered structures. Our results suggest that it is short-range order rather than long-range order that most significantly affects tracer diffusion.
Using ground state and excited state density functional theory to decipher 3d dopant defects in GaN
Authors: Schultz Peter A , Lutz Jesse J 
Published: September 2024

Abstract
Using ground state density functional theory (DFT) and implementing an occupation-constrained DFT (occ-DFT) for self-consistent excited state calculations, we decipher the electronic structure of the Mn dopant and other 3d defects in GaN across the band gap. Our analysis, validated with broad agreement with defect levels (ground-state calculations) and photoluminescence data (excited-state calculations), mandates reinterpretation and reassignment of 3d defect data in GaN. The MnGa defect is determined to span stable charge states from (1−) in n-type GaN through (2+) in p-type GaN. The Mn(2+) is predicted to be a d
2 ground state spin triplet defect with a singlet excited state, isoelectronic with the defect associated with the 1.19 eV photoluminescence in n-type GaN. The combined analysis of defect levels and excited states invites reassessment of all d
2-capable dopants in GaN. We demonstrate that the 1.19 eV defect, a candidate defect for optically controlled quantum applications, cannot be the Cr(1+) assumed in literature and instead must be the V(0). The combined ground-state/excited-state DFT analysis is shown to be able to chemically fingerprint defects.
The magnetization process of classical Heisenberg magnets with non-coplanar cuboc ground states
Authors: Richter Johannes , Schmidt Heinz-Jürgen , Schnack Jürgen 
Published: September 2024

Abstract
We consider a classical Heisenberg model on the kagomé and the square kagomé lattice, where at zero magnetic field non-coplanar cuboctahedral ground states with twelve sublattices exist if suitable exchange couplings are introduced between the other neighbors. Such ‘cuboc ground states’ are remarkable because they allow for chiral ordering. For these models, we discuss the magnetization process in an applied magnetic field H by both numerical and analytical methods. We find some universal properties that are present in all models. The magnetization curve M(H) usually contains only non-linear components and there is at least one magnetic field driven phase transition. Details of the M(H) curve such as the number and characteristics (continuous or discontinuous) of the phase transitions depend on the lattice and the details of the exchange between the further neighbors. Typical features of these magnetization processes can already be derived for a paradigmatic 12-spin model that we define in this work.