bluuebunny/crossref_metadata_2025_split huggingface dataset:
Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion
Authors: Nan Haitian , Chu Min , Zhang Jing , Jiang Deming , Wang Yihao , Wu Liyong 
Published: March 2024

AbstractBackgroundOkur‐Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1. It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities.MethodsWe performed the whole‐exome sequencing for a patient in a Chinese family. The co‐segregation study using the Sanger sequencing method was performed among family members. Reverse transcription and quantitative real‐time polymerase chain reaction were carried out using total RNA from blood samples of the proband and wild‐type control subjects. A review of patients with OCNDS harboring CSNK2A1 pathogenic variants was conducted through a comprehensive search of the PubMed database.ResultsWe identified a novel CSNK2A1 frameshift variant p.Tyr323Leufs*16 in a Chinese family. The proband, a 31‐year‐old female, presented with abnormal eating habits, recurrent seizures, language impairment, and intellectual disability. Her mother exhibited postnatal hernias, splenomegaly, and a predisposition to infections, but showed no significant developmental impairments or intellectual disability. Genetic studies revealed the presence of this variant in CSNK2A1 in both the proband and her mother. Transcription analysis revealed this variant may lead to nonsense‐mediated mRNA decay, suggesting haploinsufficiency as a potential disease mechanism. We reviewed 47 previously reported OCNDS cases and discovered that individuals carrying CSNK2A1 null variants may exhibit a diminished frequency of symptoms linked to language deficits, dysmorphic facial features, or intellectual disability, consequently presenting an overall milder phenotype when compared to those with missense variants.ConclusionWe report a novel frameshift variant, p.Tyr323Leufs*16, in an OCNDS family with a generally mild phenotype. This study may broaden the spectrum of clinical presentations associated with OCNDS and contribute novel insights into the genotype–phenotype correlation of this condition.
One vs. two‐stage arteriovenous loops in lower extremity reconstruction with free flaps: Systematic review and metanalysis
Authors: Asensio‐Ramos Sergio , Sanz‐Medrano Santiago , Soldado Francisco , Buendía‐Pérez Javier 
Published: March 2024

AbstractBackgroundArteriovenous loops are one of the main therapeutic alternatives to address the absence of recipient vessels in lower extremity microsurgical reconstruction. However, there is no consensus on whether to perform them in one or two surgical stages. The objective of this work is to determine whether the outcome of lower limb free flaps anastomosed to vascular loops depends on the number of surgical stages.Materials and MethodsA literature review was conducted, following PRISMA guidelines, on vascular loops and free flaps in lower limb. Survival rate, as well as major and minor complications were studied. A forest plot and Pearson's chi‐square were used for statistical analysis. Study quality was assessed in duplicate using Methodological Index for Non‐Randomized Studies (MINORS) and Joanna Briggs Institute (JBI) tool. This study was registered on PROSPERO.ResultsThirty‐two articles using free flaps anastomosed to vascular loops in lower limb, either one or two‐stage, were selected. A total of 296 flaps were included, 52% (n = 154) in one and 48% (n = 142) in two surgical times. No statistically significant differences were found in the survival rate (OR = 1.85, 95% CI 0.62; 5.47, p = .09 and p = .344) or major complications (OR = 0.70, 95% CI 0.31; 1.57, p = .56 and p = .92) of flaps between both groups.ConclusionsAccording to the available evidence, the outcome of free flaps anastomosed to vascular loops in the lower limb does not depend on the number of surgical stages they undergo. Although there is some heterogeneity in the groups studied, the decision on the number of procedures to be performed should be determined by the surgeon, concerning the clinical situation of the patient, as well as to the vascular, bone and soft tissue status of the extremity.
Impact of soft minerals on crack propagation in crystalline rocks under uniaxial compression: A grain‐based numerical investigation
Authors: Zhou Yu , Lv Wenjun , Li Bo , Liang Qinyuan 
Published: March 2024

AbstractVarying external conditions in the metallogenetic process of crystalline rocks contribute to the complex mineral and textural characteristics, rendering the mechanical properties highly heterogeneous at the mineral scale. This research focused on the influences of minerals with relatively low strength and stiffness (soft minerals) in crystalline rocks on their cracking behavior. A particle‐based discrete element method (DEM) was first employed to establish random grain‐based models (GBM) of crystalline rocks containing soft minerals with different contents, strengths, and stiffnesses. On this basis, responses of the mechanical properties and crack propagation to these parameters were systematically investigated and an optimized micro‐parameter calibration method for real CT (computed‐tomography) ‐based GBM was then proposed considering the characteristics of soft minerals. The results demonstrate that with the decrease of the strength of soft mica, the intragranular cracks are prone to initiate and propagate inside the soft minerals and lead to the final crack coalescence. The decrease in the stiffness of soft minerals enhances their controlling effects on the cracking propagation. Based on the CT‐based granite model, it was found that a heterogeneous stress field is produced due to the spatial distribution of the soft (mica) and hard (quartz and feldspar) minerals, and the mica minerals tend to terminate cracks or force cracks to deflect or bypass individual grains during crack propagation. This study sheds light on the damage and failure processes of crystalline rocks with contrast mineral components.
Painting the town in SDGs colors. A citywide dissemination catalyzed by the organizational evolution in a large European philanthropic foundation. A case study on the Fondazione Compagnia di San Paolo of Turin
Authors: Roda Renato , Aloi Erika 
Published: March 2024

AbstractThe Fondazione Compagnia di San Paolo of Turin is not only one of the largest philanthropic institutions in Europe (the first in Italy and in the top 10 of the continent) but also one of the longest‐lived. In its more than 450 years of history the Foundation has distinguished itself for its ability to deal with several moments of radical change (the progressive secularization, the development of a financial dimension that eventually resulted in the largest Italian banking institution, the return to the separation between banking and philanthropic activity): none of which, however, is comparable—for a number of factors—with the transformation that took place in 2020, when the Foundation adopted the United Nations 2030 Agenda and, in particular, the Sustainable Development Goals as its primary key reference. A rare case regarding for a brand highly consolidated in its recognizability—at least in its main territory of reference—the change embraced by the Foundation and inspired by the SDGs involved the institution at every level, from the most immediate of visual and multimedia communication (the iconography of the Goals has even become part of the Foundation's own logo) to the most radical and decisive aspect of internal organization and finalization of the objectives. With a significant revision of the institutional organizational structures, in a short time the SDGs were in fact adopted as a main reference paradigm of the organization for the objectives of the Foundation, acting at the same time as a macro‐level of alignment regarding the operational purposes of the institution and as a quantitative measure of evaluation of the results obtained by the various projects developed. In this contribution we will describe in a more detailed way the case study of the Compagnia di San Paolo and the complexity faced during this rapid and deep process of change, by observing the first results of the transition and by underlining the problems positively solved through the new identity. All this without deviating from but rather enhancing the effectiveness of the philanthropic action of the Compagnia di San Paolo.
The transition of metabolic phenotypes and cardiovascular events: Panasonic cohort study 16
Authors: Ichikawa Takahiro , Okada Hiroshi , Hamaguchi Masahide , Nishioka Norihiro , Tateyama Yukiko , Shimamoto Tomonari , Kurogi Kazushiro , Murata Hiroaki , Ito Masato , Iwami Taku , Fukui Michiaki 
Published: March 2024

AbstractObjectiveThe study objective was to investigate whether changes in metabolic phenotype affect the risk of cardiovascular events.MethodsAll 117,589 participants were included in this retrospective cohort study. The metabolic phenotypes of the participants were assessed at two points (the second evaluation was set 2 years after the first evaluation), and the incidence rate of cardiovascular events was observed for 11 years. The main outcome was 3‐point major adverse cardiac events (MACE), which comprises cardiovascular death, nonfatal coronary artery disease, and nonfatal stroke incidence.ResultsOf the participants, 2748 (2.3%) cases of 3‐point MACE were identified during follow‐up. The stable metabolically healthy obesity group had a higher risk of 3‐point MACE than those with stable metabolically healthy nonobesity (MHNO). Additionally, the change from metabolically healthy obesity to MHNO for 2 years decreased the risk of 3‐point MACE (hazard ratio [HR], 1.12: 95% CI: 0.84–1.47) to the same level as stable MHNO. However, the change from metabolically abnormal nonobesity and metabolically abnormal obesity to MHNO for 2 years maintained a higher risk of 3‐point MACE (HR, 1.66 [95% CI: 1.36–2.01]; HR, 1.91 [95% CI: 1.22–2.81]) than those with stable MHNO.ConclusionsChange in metabolic phenotype is associated with incident 3‐point MACE.
Acknowledging and understanding the contributions of nature to human sense of time
Authors: Correia Ricardo A. 
Published: March 2024

Abstract

There is growing evidence that interacting and connecting with nature are essential to maintain human health and well‐being. The benefits of specific nature experiences and the cultural ecosystem services they provide are increasingly being recognized, but many others remain to be discovered and explored.

In this perspective piece, I argue that there is a need to better explore the pivotal role of nature experiences in shaping human time perception—our sense of time. Specifically, I outline the main elements of human time perception and the key factors that shape it, describe recent evidence showing that human time perception changes between urban and natural environments and discuss the potential societal gains from developing a better understanding of this relationship.

Human time perception is complex and involves at least three key dimensions related to temporal succession, temporal duration and temporal perspective. Time perception is shaped by various contextual factors, including the contents of the time period and the cognitive, emotional and bodily characteristics of the experiencer.

There is growing evidence that nature experiences can influence human sense of time by (i) extending human perception of temporal duration and (ii) shifting time perspectives. People who spend time in nature tend to overestimate the length of that experience and show a more positive outlook of the past, present and future, with less focus on a single‐time perspective.

In the context of increasing time scarcity in modern urban societies with dire consequences for human health and well‐being, I argue we need a better understanding of how nature experiences shape our sense of time and suggest how future research can provide actionable insights to help restore a healthier and more balanced relationship with time and nature.

Read the free Plain Language Summary for this article on the Journal blog.
Children's mental health promotion: The need for intersectorial and interprofessional collaboration
Authors: Tokolahi Ema , Fenwick Jess , Sutherland Dean , Richardson Deirdre , Bazyk Sue , Sheehan Dale 
Published: March 2024

AbstractEvery moment counts (EMC) is a multi‐tiered mental health promotion initiative designed to build the capacity of practitioners to address the mental health needs of children and youth in school settings. This study evaluated the impact and cultural relevance of EMC workshops in supporting practitioners to apply a public health approach to children's mental health in Aotearoa New Zealand. A longitudinal mixed methods design employed a survey and semi‐structured interviews to evaluate the applicability, impact and cultural relevance of the EMC workshops. Themes identified from participants' reflections on their experiences of implementing EMC represented everyday practices at individual, team, and organizational levels. Specifically, intersectorial collaboration was perceived as beneficial. There is a call to action for practitioners to work more cohesively and interprofessionally, at policy and practice levels, to effectively promote children's mental health and achieve equitable health and well‐being outcomes. Communities of practice offer a potential mechanism to support translation of knowledge into practice in schools. Application of a public health approach to children's mental health in schools, facilitated by the EMC initiative, is applicable and positively impacts outcomes in Aotearoa New Zealand, with some modifications needed to better fit the cultural context.
Elucidating the role of monoacetylphlorogulcinol in the pathogenicity of Pseudomonas ‘gingeri’ against Agaricus bisporus
Authors: Huang Zaixing , Nie Yulu , Huang Yiyun , Liu Lizhen , Liu Bin 
Published: March 2024

AbstractBACKGROUNDAgaricus bisporus is a globally important edible fungus. The occurrence of ginger blotch caused by Pseudomonas ‘gingeri’ during A. bisporus growth and post‐harvest stages results in significant economic losses. The biotoxin monoacetylphloroglucinol (MAPG) produced by P. ‘gingeri’ is responsible for inducing ginger blotch on A. bisporus. However, the understanding of the toxic mechanisms of MAPG on A. bisporus remains limited, which hinders the precise control of ginger blotch disease in A. bisporus and the breeding of disease‐resistant varieties.RESULTSIntegrating transcriptomic, metabolomic, and physiological data revealed that MAPG led to an increase in intracellular superoxide anion (O2−) levels and lipid peroxidation in A. bisporus. MAPG changed the cellular membrane composition of A. bisporus, causing to damage membrane permeability. MAPG inhibited the expression of genes associated with the 19s subunit of the proteasome, thereby impeding cellular waste degradation in A. bisporus. Unlike melanin, MAPG stimulated the synthesis of flavonoids in A. bisporus, which might explain the manifestation of ginger‐colored symptoms rather than browning. Meanwhile, the glutathione metabolism pathway in A. bisporus played a pivotal role in counteracting the cytotoxic effects of MAPG. Additionally, enhanced catalase activity and up‐regulation of defense‐related genes, including cytochrome P450s, Major Facilitator Superfamily (MFS), and ABC transporters, were observed.CONCLUSIONThis study provides comprehensive insights into MAPG toxicity in A. bisporus and uncovers the detoxification strategies of A. bisporus against MAPG. The findings offer valuable evidence for precise control and breeding of resistant varieties against ginger blotch in A. bisporus. © 2024 Society of Chemical Industry.
Size Control and Photoluminescence Characteristics of InSb Quantum Dots on GaSb Substrates Grown by Molecular Beam Epitaxy
Authors: Kuwabara Emin , Yamamoto Kyosuke , Koseki Keisuke , Gozu Shin‐Ichiro , Endoh Akira , Fujishiro Hiroki I. 
Published: March 2024

InSb self‐assembled quantum dots (QDs) have the possibility to increase the luminescence intensity of light‐emitting diodes operating in the midinfrared region. As a first step toward the midinfrared luminescence, the single‐layer InSb QDs are grown on GaSb (100) substrates by molecular beam epitaxy and the effects of V/III ratio and InSb coverage on size and density of InSb QDs and photoluminescence (PL) characteristics are investigated. As the V/III ratio increases, the distribution of QD height broadens and goes from monomodal to multimodal. The increase in the number of large QDs and their multimodal distribution are thought to be due to the ripening process. The PL intensity is maximum at a V/III ratio of 2 with PL wavelength of 1.76 μm. As the InSb coverage increases at a V/III ratio of 2, QD size and density increase while maintaining a monomodal distribution in QD size. However, the PL peak intensity decreases with increasing InSb coverage due to the increase of nonradiative QDs. The highest PL peak intensity at an InSb coverage of 2.0 monolayer  and a V/III ratio of 2 with PL wavelength of 1.69 μm are obtained. The present single‐layer InSb QD shows the emission in the near‐infrared region.
A solitary rod‐shaped intertrabecular metastasis in the femur
Authors: Yokoyama Mako , Inui Toshihide , Namiki Tomohiro , Ishikawa Hiroaki , Watanabe Hiroko , Dai Yuichi , Sakamoto Tohru 
Published: March 2024

Key messageIntertrabecular metastasis (ITM) is a type of bone metastasis characterized by tumour growth without significant trabecular changes. ITM is most commonly found in vertebral bodies, and rarely in long bones. We report a solitary rod‐shaped ITM of lung adenocarcinoma in the femur.
Recursive integral terminal sliding mode control with combined extended state observer and adaptive Kalman filter for MEMS gyroscopes
Authors: Zhang Rui , Xu Bin , Li Shihua , Gao Guangen 
Published: March 2024

AbstractThe recursive integral terminal sliding mode control with combined extended state observer (ESO) and adaptive Kalman filter (AKF) is proposed in this article for micromechanical system gyroscopes. To accurately estimate the unmeasured system states in the presence of measurement noises, external disturbances and system uncertainties, the special combination of ESO and AKF is proposed. The AKF is employed to deal with measurement noises and prepare necessary signals for the ESO, while the ESO constantly provides the updated estimate of the lumped disturbance for the AKF. Furthermore, a robust control scheme is designed by using the recursive integral terminal sliding mode variable. Simulation results verify that more accurate unmeasured state estimation and higher tracking accuracy are achieved under the proposed method.
A distributed containment tracking control of the UAV formation with prescribed performance subject to collision avoidance
Authors: Xiong Shi‐Xun , Xie Xiang‐Peng , Jiang Guo‐Ping 
Published: March 2024

SummaryIn this paper, the issue of finite‐time containment tracking control under collision avoidance constraints for unmanned aerial vehicle (UAV) formation is investigated. To tackle the challenge of collision avoidance in the context of formation containment tracking, combined with a prescribed performance function, a distributed containment tracking control scheme is proposed. Firstly, a UAV formation containment control model from a top view perspective is established. Next, to solve the internal collision avoidance within the formation, a restricted movement region is constructed for each UAV using a distributed prescribed performance function, which guarantees that each UAV's trajectory is maintained within a predefined area. Furthermore, invoking with the finite‐time control theory for the formation, a distributed containment tracking control scheme is developed to complete finite‐time tracking of the formation. Finally, simulation results are carried out to demonstrate the efficacy of the proposed approach.
Bayesian model updating of super high‐rise building for construction simulation
Authors: Du Ya‐Nan , Qin Zhi‐Chuan , Guan Cong‐Cong , Feng De‐Cheng , Wu Gang 
Published: March 2024

SummaryA finite element model was established using SAP2000 software for the C1 tower, a super high‐rise building in the second phase of the Nanjing Financial City project, and the construction process of the tower was simulated. The C1 tower adopts a frame core tube extension arm and ring truss structure system, with 87 floors above ground and five floors underground. The roof structure has an elevation of 416.6 m. Precise measurements of inter‐story compression deformation were conducted using advanced surveying equipment. Sensitivity analysis, based on the finite difference method, identified the shear wall elastic modulus, frame column elastic modulus, steel beam elastic modulus, and shear wall unit weight as four highly influential parameters. Employing the Bayesian principle, the Markov Chain Monte Carlo (MCMC) method was applied to determine the posterior density probability function of the parameters targeted for modification. Subsequently, the Metropolis–Hastings (MH) sampling algorithm was employed to refine the C1 Tower model. This refinement significantly reduced the root mean square error between the measured and simulated vertical displacements, achieving an error reduction of approximately 10% from 6.082 to around 2.160. The modified material parameters, for the most part, adhered to a normal distribution assumption and exhibited mean values in the posterior probability density functions for the elastic modulus of Q345 steel beams, C70 frame columns, and C60 shear walls. Compared to the initial finite element parameters, the variation range was approximately 13% to 17%. These results serve as a validation of the effectiveness of the proposed method.
Antrodia cinnamomea prevents ovariectomized‐promoted bone loss by inhibiting osteoclast formation
Authors: Po‐Chun Chang , Su Hui‐Kan , Liu Shan‐Chi , Thuong Le Huynh Hoai , Wu Yang‐Chang , Chen Hsien‐Te , Wu Tung‐Ying , Tang Chih‐Hsin 
Published: March 2024

AbstractOsteoporosis is a common bone disease in aging populations, particularly in postmenopausal women. Anti‐resorptive and anabolic drugs have been applied to prevent and cure osteoporosis and are linked with a variety of adverse effects. Antrodia cinnamomea extracts (ACE) are highly renowned for their anticancer, antioxidative, and anti‐inflammatory properties. However, whether ACE‐enriched anti‐osteoporosis functions are largely unknown. In a preclinical animal model, we found that ovariectomy significantly decreased bone volume in the ovariectomized (OVX) rats. Administration of ACE antagonized OVX‐induced bone loss. In addition, ACE reversed OVX‐reduced biomechanical properties. The serum osteoclast marker also showed improvement in the ACE‐treated group. In the cellular model, it was indicated that ACE inhibits RANKL‐induced osteoclast formation. Taken together, ACE seems to be a hopeful candidate for the development of novel anti‐osteoporosis treatment.