bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-exome sequencing identifies novel mutation in intrahepatic
cholestasis of pregnancy: A case report and literature review
Authors: Xu Tingting , Wang Xiaodong , Deng Xixi , Li Xueqi , Zhan Yongchi , Ren Yuxin 
Published: January 2025

AbstractIntrahepatic cholestasis of pregnancy (ICP) is a
pregnancy-specific liver disease characterized by pruritus and elevated total
bile acid (TBA) levels. The most serious impact of ICP is sudden unexplained
intrauterine fetal death, especially when an associated TBA ≥ 100 µmol/L is
confirmed.We report a case of a 27-year-old female patient with early-onset
severe refractory ICP. Whole-exome sequencing and mutation analyses were
performed to obtain genetic data on the patient and her mother. Sanger
sequencing was performed to screen the mutation site. Computer-based algorithms
were applied to predict the pathogenesis of the identified mutation.
Subsequently, we conducted a literature review to characterize the pathological
features and perinatal management of severe refractory ICP, especially ICP with
genetic susceptibility.A heterozygous mutation in the ABCD3 gene: c.130C >
T/p.Pro44Ser was detected in this patient. Through the analysis of pathogenicity
prediction software, the mutations were disease-causing. This is the first
report to identify the novel p.Pro44Ser mutations of ABCD3 gene in ICP
patients.Our report provides new insights into the genetic
architecture of ICP involving ABCD3 variants. Early-onset severe
refractory ICP is rare and mutations in bile acid metabolism genes might
accentuate the phenotype. Emphasized perinatal management and screening for
potential pathogenicity sites of variants that drive specific recognition of ICP
is necessary.
Minimally Invasive Radial–Ulnar and Tibial Fracture Management with Supracutaneous Locking Plates in Dogs and Cats
Authors: İnal Kamil S. 
Published: January 2025

Abstract
Objective This study aimed to report the clinical, radiographic, and computed tomography results of supracutaneous locking plate (SLP) application in radial–ulnar and tibial fractures.
Study Design In this clinical prospective study, cats and dogs with nonarticular radial, ulnar, and tibial fractures were managed with SLP. Surgical records, fracture healing, complications, and lameness were reviewed during scheduled rechecks. Fracture healing was assessed by clinical, radiographic, and tomographic reexaminations.
Results All cases were reevaluated during clinical and radiological follow-up examinations for 13 weeks. Supracutaneous locking plates were used in 8 radial–ulnar and 25 tibial fractures. Closed reduction was used in 10 cases, and the minimally invasive osteosynthesis approach technique was used in 20 cases. The median fracture healing time was 50.5 days (range: 27–88). Callus area, the Hounsfield units value of callus tissue, and three-dimensional bone volume gradually increased during fracture healing (p < 0.05).
Conclusion Using SLPs to manage nonarticular diaphyseal radial–ulnar and tibial fractures in cats and dogs resulted in acceptable clinical outcomes. Cats and dogs tolerated SLPs well, and no complications related to structural integrity were encountered in most cases.
Sonographic and Anthropometric Measurements for Body Composition and
Their Relationship with Functioning in Adolescent Obesity
Authors: Avar-Aydin Pinar Ozge , Koyuncu Esra Gizem , Dogan Duygu , Ates Nursena Kologlu , Gurel Emel , Arda Nuray , Ozcakar Levent 
Published: January 2025

AbstractObesity is one of the most common chronic diseases seen in
children and adolescents. This study aims to examine the impact of obesity on
body composition, assessed by sonographic and anthropometric measurements, and
health-related quality of life (HRQoL) in adolescents.Anthropometric measurements, sonographic measurements of
subcutaneous fat, quadriceps muscle, Achilles tendon thickness, and HRQoL were
performed in children between 12–18 years of age. Comparisons between
adolescents with obesity and normal body mass index (BMI) were examined.A total of 300 adolescents with similar physical activity levels,
28.7% with obesity, were enrolled. The thickness of mid-forearm/mid-thigh
subcutaneous fat tissue and quadriceps muscle was significantly higher in
participants with obesity (p≤0.001). Moderate-to-strong correlation with BMI and
waist circumference was observed (r>0.40, p<0.01). Participants with
longer duration of obesity had thicker quadriceps muscle irrespective of the
severity of obesity or presence of metabolic syndrome. Achilles tendon thickness
did not differ between the groups. HRQoL was significantly lower in adolescents
with obesity and indicated a negative moderate correlation between physical
functioning and subcutaneous fat thickness (r<− 0.50, p<0.01).An important relationship between sonographic and
anthropometric measurements, and physical functioning was demonstrated in
adolescents. Ultrasound seems to have a role in the evaluation of body
composition in obesity beyond what is captured by overall BMI. Significantly
increased quadriceps muscle thickness in adolescents with obesity, coupled with
its relation to the duration of obesity, implies potential temporal association
between excess body weight and adaptation of quadriceps muscle.
The role of lipid metabolism in cognitive impairment
Authors: Xu Meifang , Wang Liyuan , Meng Yun , Kang Guiqiong , Jiang Qing , Yan Tao , Che Fengyuan 
Published: January 2025

AbstractAlzheimer's disease (AD), diabetic cognitive impairment (DCI), and vascular dementia (VD) are considered the most common causes of severe cognitive impairment in clinical practice. Numerous factors can influence their progression, and many studies have recently revealed that metabolic disorders play crucial roles in the progression of cognitive impairment. Mounting evidence indicate that the regulation of lipid metabolism is a major factor in maintaining brain homeostasis. Generally, abnormalities in lipid metabolism can affect amyloid-beta (Aβ) deposition, tau hyperphosphorylation, and insulin resistance through lipid metabolic signaling cascades; affect the neuronal membrane structure, neurotransmitter synthesis and release; and promote synapse growth, which can impact neural signal transmission and exacerbate disease progression in individuals with cognitive impairment, including AD, DCI, and VD. Moreover, apolipoprotein E (APOE), a key protein in lipid transport, is involved in the occurrence and development of the aforementioned diseases by regulating lipid metabolism. The present article mainly discusses how lipid metabolic disorders in the brain microenvironment are involved in regulating the progression of cognitive impairment, and it explores the regulatory effects of targeting the key lipid transport protein APOE in the context of the role of lipid metabolism in the common pathogenesis of three diseases—Aβ deposition, tau hyperphosphorylation, and insulin resistance—which will help elucidate the potential of targeting lipid metabolism for the treatment of cognitive impairment.
Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil
Authors: Pinto Luiz Felipe , Pinto Marcus V. , Accioli Paula , Amorim Gabriela , Rosa Renata Gervais de Santa , Dias Moises , Guedes Mariana , Gomez Carlos P. , Pedrosa Roberto C. , Waddington-Cruz Marcia 
Published: January 2025

Abstract
Background Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese).
Objective To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials.
Methods We retrospectively studied all patients with ATTRv-PN evaluated at our center from September 2011 to March 2022 (data cut-off) who were initiated on tafamidis and had at least 1 follow up visit 6 months after the initiation of the drug treatment. Neurologic and functional outcomes were compared from day 1 (D1) of the tafamidis treatment (baseline) to the last follow-up.
Results In total, 33 patients were included, 18 (55%) of whom were female. All patients were carriers of the V30M mutation of ATTRv-PN, and 20 (61%) presented early onset (EO) ATTRv-PN. At baseline, the median age of the sample was of 40 (interquartile range [IQR]: 36–68) years, the median Neuropathy Impairment Score (NIS) was of 10 (6–24) points, and the median body mass index (BMI) was of 26 (23–28) kg/m2. The mean follow-up time was of 3.4 years. At the last follow-up, the BMI, the neurological impairment, and the level of disability slightly worsened compared with baseline, while the findings of the nerve conduction studies remained stable. These same results were observed across EO and late-onset (LO) ATTRv-PN patients. A total of 25 (75.8%) patients were considered responders, and 8 (24.2%), non-responders.
Conclusion The efficacy and safety of tafamidis reported in clinical trials is expandable to the Brazilian real-world scenario in EO and late-onset (LO) ATTRv-PN.
The 10-Year Outcomes of Single- versus Double-Bundle Anterior Cruciate Ligament Reconstruction: A Systematic Review
Authors: Ge Yang , Fan Ning , Si Fangda , Zang Lei 
Published: January 2025

AbstractSingle-bundle (SB) and double-bundle (DB) anterior cruciate ligament reconstruction (ACLR) have been compared for years, and long-term outcomes of the two techniques remain inconclusive. We compared the 10-year outcomes of SB and DB reconstruction, in terms of subjective scores, knee stability, graft failure, and osteoarthritis (OA). We searched MEDLINE, Embase, and Cochrane Central Register of Controlled Trials for relevant studies, without restrictions on study design, language, or publication date. The risk of bias and methodological quality were assessed using the Cochrane risk of bias tools (RoB 2 and ROBINS-I) and the Modified Coleman Methodology Score (MCMS), respectively. Reconstructions scoring at least 8 on the Anatomic ACLR Scoring Checklist (AARSC) were considered anatomic. The results were narratively summarized and graphically represented using tables and forest plots. Our search included six studies (two randomized control trials [RCTs] and four cohort studies [CSs]), comprising 222 SB and 214 DB reconstruction patients, with an average follow-up of 11.4 years. Of these, four studies achieved a methodological rating of “good” or above. Bias risk was evaluated as “some concerns” in the RCTs and “serious” in the CSs. Six, four, four, and two studies reported on subjective scores, knee stability, graft failure, and OA, respectively. Except for one study that reported a higher Lysholm score (p = 0.007) in the DB group, no group differences in subjective scores were identified. According to one study, the DB group performed better on the Lachman test (p = 0.02) and the KT-2000 arthrometer (p = 0.024 and 0.034 for pulling and back pushing, respectively). Three studies revealed higher negative rates of the pivot shift test in the DB group. The incidence of graft failure and OA were not statistically significant between the SB and DB groups. The existing evidence does not conclusively determine whether DB reconstruction provides long-term advantages over SB reconstruction. Future research with larger sample sizes and higher levels of evidence is warranted.
Gender diversity and disclosure: a meta-analysis
Authors: AlJanadi Yaseen 
Published: January 2025

Abstract
The significance of Gender diversity in enhancing quality of reporting has been a focal point of the theoretical and empirical research in recent decades. However, discrepancies persist between empirical findings and theoretical perspectives regarding the role of female representation in improving disclosure quality. This study aims to elucidate the relationship between female representation and disclosure. This study employs a series of meta-analyses techniques on 189 empirical studies spanning over 39 countries to investigate the relationship between female representation and disclosure. It further examines how gender parity, shareholder protection, types of disclosure, and publication quality moderate this relationship. The meta-analysis results indicate that female representation is significantly positively associated with disclosure. This positive association is more pronounced in countries with high gender parity and low shareholder protection, underscoring the crucial monitoring role female representation can play in safeguarding shareholders’ interests, particularly when women have greater influence in boardroom decision-making (i.e., gender parity). Additionally, the findings reveal that female representation is more significantly associated with social and environmental disclosure than with financial and governance disclosure. The study provides valuable insights for regulators, directors, and shareholders by advocating for the empowering of female representation and increasing the representation of women in senior positions within firms.
Superconductivity in cubic La3Al with interstitial anionic electrons
Authors: Tu Zhijun , Sun Peihan , Jia Donghan , Gou Huiyang , Liu Kai , Lei Hechang 
Published: January 2025

Abstract
We report the observation of superconductivity in cubic La3Al single crystal. It shows a metallic behavior at a normal state without observable structural transition and enters the superconducting state below Tc
~ 6.32 K. Detailed characterizations and analysis indicate that cubic La3Al is a bulk type-II BCS superconductor. Moreover, theoretical calculations show that it can host interstitial anionic electrons, which are located at the body center of cubic unit cell, and confirm the electronphonon coupling as the superconducting mechamism. Thus, cubic La3Al can be regarded as an novel electride superconductor.
Plane-parallel waves as Jacobi–Lie models
Authors: Petr Ivo , Hlavatý Ladislav 
Published: January 2025

Abstract
T-duality and its generalizations are widely recognized either as symmetries or solution-generating techniques in string theory. Recently introduced Jacobi–Lie T-plurality is based on Leibniz algebras whose structure constants

f

a
b

c

,

f
c

a
b

,

Z
a

,

Z
a

satisfy further conditions. Low dimensional Jacobi–Lie bialgebras were classified a few years ago. We study four- and six-dimensional algebras with structure constants

f
b

b
a

=

Z
a

=
0

and show that there are several classes consisting of mutually isomorphic algebras. Using isomorphisms between Jacobi–Lie bialgebras we investigate three- and four-dimensional sigma models related by Jacobi–Lie T-plurality with and without spectators. In the Double Field Theory formulation constant generalized fluxes FA
are used in the literature to transform dilaton field. We extend the procedure to non-constant fluxes and verify that obtained backgrounds and dilatons solve Supergravity Equations. Most of the resulting backgrounds have vanishing curvature scalars and, as can be seen by finding Brinkmann coordinates, represent plane-parallel waves.
A constructible conductivity cloak via homogenisation*
Authors: Capdeboscq Yves , Gemida Eleanor 
Published: January 2025

Abstract
We show that approximate cloaks can be constructed by a finite number of layers of isotropic materials. We detail a construction method, and we provide an upper bound on the number of layers required. Our approach is to view anisotropic matrix-valued materials obtained by the cloaking-by-mapping method as the effective limit of a multiple materials rank-one laminate, and to quantify precisely the approximation error. We illustrate our result and a variant in dimension two with an example.
Nonlinear Breit–Wheeler pair production using polarized photons from inverse Compton scattering
Authors: Seipt Daniel , Samuelsson Mathias , Blackburn Tom 
Published: January 2025

Abstract
Observing multiphoton electron–positron pair production (the nonlinear Breit–Wheeler process) requires high-energy γ rays to interact with strong electromagnetic fields. In order for these observations to be as precise as possible, the γ rays would ideally be both mono-energetic and highly polarized. Here we perform Monte Carlo simulations of an experimental configuration that accomplishes this in two stages. First, a multi-GeV electron beam interacts with a moderately intense laser pulse to produce a bright, highly polarized beam of γ rays by inverse Compton scattering. Second, after removing the primary electrons, these γ rays collide with another, more intense, laser pulse in order to produce pairs. We show that it is possible to measure the γ-ray polarization dependence of the nonlinear Breit–Wheeler process in near-term experiments, using a 100 TW class laser and currently available electron beams. Furthermore, it would also be possible to observe harmonic structure and the perturbative-to-nonperturbative transition if such a laser were colocated with a future linear collider.
Room temperature pure α-phase tantalum films on sapphire for superconducting qubits
Authors: Bu Kunliang , Zong Zhiwen , Zhang Zhenxing , Ma Xingyu , Shao Ming , Li Dengfeng , Li Yuan , Hu Jingjing , Huai Sainan , An Shuoming , Cai Tianqi , Yang Xiaopei , Dai Maochun , Zheng Yi-Cong , Zhang Shengyu 
Published: January 2025

Abstract
Tantalum (Ta) films with a body-centered cubic α-phase play a crucial role in high-performance Ta-based superconducting quantum processors. The growth of pure α-Ta at low temperatures has been a long-term goal. Existing experience with Ta growth on silicon substrates has led to the belief that α-Ta can only be stabilized at high temperatures. In this study, we systematically analyzed the growth mechanism of Ta films on sapphire substrates using first-principles calculations, revealing a narrow growth energy window for pure α-Ta at room temperature (RT). This finding indicates the feasibility of obtaining pure α-Ta at significantly lower temperatures. Experimentally, we successfully achieved pure α-Ta at RT via magnetron sputtering by meticulously adjusting the growth parameters. The resulting superconducting resonators based on the developed RT α-Ta exhibit an internal quality factor (

Q
i

) of approximately

2.1
×

10
6

at single-photon levels, comparable to those fabricated at high temperatures. Additionally, fixed-frequency transmon qubits fabricated using the RT α-Ta film demonstrate a coherence time exceeding 280 µs, underscoring the film’s high quality. The RT α-Ta without a seed layer simplifies the fabrication process, offering a more efficient and flexible approach for producing Ta-based superconducting quantum processors.
Recent progress in synthesis and properties of two-dimensional boron carbon nitride for application in energy storage devices
Authors: Rasuli Hadi , Rasuli Reza 
Published: January 2025

Abstract
Two-dimensional (2D) Boron Carbon Nitride (BCN) has recently gained significant attention as a convoluted ternary system owing to its remarkable capability to exhibit a wide range of finely tunable physical, chemical, optical, and electrical properties. In this review, we discuss a variety of stable structure forms of BCN nanosheets. In addition, this review provides recent approaches for synthesizing BCN nanostructures, and properties of BCN derivatives. BCN is a promising material for sustainable energy and energy storage devices. Since BCN application is a challenge in the field of energy, we present potential applications of BCN in the field of energy including supercapacitors and batteries, wastewater treatment, electrochemical sensing, and gas adsorption.
Visual collective behaviors on spherical robots
Authors: Castro Diego , Eloy Christophe , Ruffier Franck 
Published: January 2025

Abstract
The implementation of collective motion, traditionally, disregard the limited sensing capabilities of an individual, to instead assuming an omniscient perception of the environment. This study implements a visual flocking model in a ‘robot-in-the-loop’ approach to reproduce these behaviors with a flock composed of 10 independent spherical robots. The model achieves robotic collective motion by only using panoramic visual information of each robot, such as retinal position, optical size and optic flow of the neighboring robots. We introduce a virtual anchor to confine the collective robotic movements so to avoid wall interactions. For the first time, a simple visual robot-in-the-loop approach succeed in reproducing several collective motion phases, in particular, swarming, and milling. Another milestone achieved with by this model is bridging the gap between simulation and physical experiments by demonstrating nearly identical behaviors in both environments with the same visual model. To conclude, we show that our minimal visual collective motion model is sufficient to recreate most collective behaviors on a robot-in-the-loop system that be implemented using several individuals, behaves as numerical simulations predict and is easily comparable to traditional models.
Approaches for aggregating data from the regional to the global level: importance for conclusions on Earth system state
Authors: Vea Eldbjørg Blikra , Richardson Katherine , Bjørn Anders , Hauschild Michael 
Published: January 2025

Abstract
A number of initiatives attempt to delimit the safe operating space (SOS) for human pressures on the Earth system, including the Planetary Boundaries framework. In some cases, data describing regional status are spatially aggregated to provide a global assessment. Several aggregation approaches can be observed, and the chosen approach may impact the conclusions. This study systematically reviews approaches of aggregating regional environmental boundaries and their state at the global level and uses a case study to compare them, aiming to highlight assumptions and implications and show how inconsistent approaches affect the accuracy and comparability of global boundary states. In the comprehensive literature review, 25 studies dealing with spatial aggregation of regional occupation of SOS and 43 associated regional boundary records were identified and categorized according to five spatial aggregation approaches and five types of adjustments that apply across approaches. These approaches were further classified as high- and low-risk approaches based on their assumptions and value judgments regarding precautionary levels and accepted regional transgressions. Notably, key publications dealing with multiple environmental boundaries use different aggregation approaches across the boundaries, potentially introducing biases. The application of these approaches to a case study revealed that the choice can influence the resulting aggregated occupation of SOS substantially, impacting conclusions as to whether or not a boundary is exceeded. To mitigate biases and inconsistencies, future estimates of spatially aggregated regional SOS should transparently communicate the assumptions underlying the chosen aggregation approach, address potential inconsistencies across boundaries, and advance our understanding of spatial propagation mechanisms.