bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
Authors: Boehm Bernhard O. , Kratzer Wolfgang , Bansal Vikas 
Published: October 2022

AbstractPathogenic variants in more than 14 genes have been implicated in monogenic diabetes; however, a significant fraction of individuals with young-onset diabetes and a strong family history of diabetes have unknown genetic etiology. To identify novel pathogenic alleles for monogenic diabetes, we performed whole-genome sequencing (WGS) on four related individuals with type 2 diabetes – including one individual diagnosed at the age of 31 years – that were negative for mutations in known monogenic diabetes genes. The individuals were ascertained from a large case-control study and had a multi-generation family history of diabetes. Identity-by-descent (IBD) analysis revealed that the four individuals represent two sib-pairs that are third-degree relatives. A novel missense mutation (p.P81S) in thePAX6gene was one of eight rare coding variants across the genome shared IBD by all individuals and was inherited from affected mothers in both sib-pairs. The mutation affects a highly conserved amino acid located in the paired-domain ofPAX6- a hotspot for missense mutations that cause aniridia and other eye abnormalities. However, no eye-related phenotype was observed in any individual. The well-established functional role of PAX6 in glucose-induced insulin secretion and the co-segregation of diabetes in families with aniridia provide compelling support for the pathogenicity of this mutation for diabetes. The mutation could be classified as “likely pathogenic” with a posterior probability of 0.975 according to the ACMG/AMP guidelines. This is the firstPAX6missense mutation that is likely pathogenic for autosomal-dominant adult-onset diabetes without eye abnormalities.
Behaviourally modulated hippocampal theta oscillations in the ferret persist during both locomotion and immobility
Authors: Dunn Soraya L. S. , Town Stephen M. , Bizley Jennifer K. , Bendor Daniel 
Published: October 2022

AbstractTheta oscillations are a hallmark of hippocampal activity across mammals and play a critical role in many hippocampal models of memory and spatial navigation. To reconcile the cross-species differences observed in the presence and properties of theta, we recorded hippocampal local field potentials in rats and ferrets during auditory and visual localisation tasks designed to vary locomotion and sensory attention. Here, we show that theta oscillations occur during locomotion in both ferrets and rats, however during periods of immobility, theta oscillations persist in the ferret, contrasting starkly with the switch to large irregular activity (LIA) in the rat. Theta during immobility in the ferret is identified as analogous to Type 2 theta that has been observed in rodents due to its sensitivity to atropine, and is modulated by behavioural state with the strongest theta observed during reward epochs. These results demonstrate that even under similar behavioural conditions, differences exist between species in the relationship between theta and behavioural state.
ZIP1+ fibroblasts protect lung cancer against chemotherapy via connexin-43 mediated intercellular Zn2+ transfer
Authors: Ni Chen , Lou Xiaohan , Yao Xiaohan , Wang Linlin , Wan Jiajia , Duan Xixi , Liang Jialu , Zhang Kaili , Yang Yuanyuan , Zhang Li , Sun Chanjun , Li Zhenzhen , Wang Ming , Zhu Linyu , Lv Dekang , Qin Zhihai 
Published: October 2022

AbstractTumour–stroma cell interactions impact cancer progression and therapy responses. Intercellular communication between fibroblasts and cancer cells using various soluble mediators has often been reported. In this study, we find that a zinc-transporter (ZIP1) positive tumour-associated fibroblast subset is enriched after chemotherapy and directly interconnects lung cancer cells with gap junctions. Using single-cell RNA sequencing, we identify several fibroblast subpopulations, among which Zip1+ fibroblasts are highly enriched in mouse lung tumours after doxorubicin treatment. ZIP1 expression on fibroblasts enhances gap junction formation in cancer cells by upregulating connexin-43. Acting as a Zn2+ reservoir, ZIP1+ fibroblasts absorb and transfer Zn2+ to cancer cells, leading to ABCB1-mediated chemoresistance. Clinically, ZIP1high stromal fibroblasts are also associated with chemoresistance in human lung cancers. Taken together, our results reveal a mechanism by which fibroblasts interact directly with tumour cells via gap junctions and contribute to chemoresistance in lung cancer.
Ornaments are equally informative in male and female birds
Authors: Nolazco Sergio , Delhey Kaspar , Nakagawa Shinichi , Peters Anne 
Published: October 2022

AbstractFemale ornaments are often reduced, male-like traits. Although these were long perceived as non-functional, it is now broadly accepted that female ornaments can be adaptive. However, it is unclear whether this is as common in females as it is in males, and whether ornaments fulfil similar signalling roles. Here, we apply a bivariate meta-analysis to a large dataset of ornaments in mutually ornamented birds. As expected, female ornament expression tends to be reduced compared to males. However, ornaments are equally strongly associated with indicators of condition and aspects of reproductive success in both sexes, regardless of the degree of sexual dimorphism. Thus, we show here in a paired comparison within-and-across species, that ornaments in birds provide similar information in both sexes: more ornamented individuals are in better condition and achieve higher reproductive success. Although limited by their correlational nature, these outcomes imply that female ornaments could widely function in a similar manner as male ornaments.
Premorbid adjustment associates with cognitive and functional deficits in individuals at ultra-high risk of psychosis
Authors: Lundsgaard Julie , Kristensen Tina Dam , Wenneberg Christina , Gregersen Maja , Nordentoft Merete , Glenthøj Louise Birkedal 
Published: October 2022

AbstractPremorbid social and academic adjustment are important predictors of cognitive and functional performance in schizophrenia. Whether this relationship is also present in individuals at ultra-high risk (UHR) for psychosis is the focus of the present study. Using baseline data from a randomised clinical trial (N = 146) this study investigated associations between premorbid adjustment and neuro- and social cognition and functioning in UHR individuals aged 18–40 years. Patients were evaluated with the Premorbid Adjustment Scale (PAS) comprising a social and an academic domain. Using validated measures neurocognition was assessed in the domains of processing speed, executive function, attention, verbal learning and memory, visual learning and memory, and working memory along with estimated IQ. Social cognitive domains assessed were theory of mind, emotion recognition, and attributional bias. Functional assessment comprised the domains of social- and role functioning, functional capacity, and quality of life. Linear regression analyses revealed poor premorbid academic adjustment to be associated with poorer performance in processing speed, working memory, attention, full scale IQ, and verbal IQ. Poor premorbid social adjustment was associated with theory of mind deficits. Additionally, both premorbid adjustment domains were associated with social- and role functioning and quality of life. Corroborating evidence from schizophrenia samples, our findings indicate poor premorbid adjustment to correlate with deficits in specific cognitive and functional domains in UHR states. Early premorbid adjustment difficulties may therefore indicate a poor cognitive and functional trajectory associated with significant impairments in early and established psychotic disorders suggesting targets for primary intervention.
Comparisons of resting-state brain activity between insomnia and schizophrenia: a coordinate-based meta-analysis
Authors: Gao Ziyang , Xiao Yuan , Zhang Ye , Zhu Fei , Tao Bo , Tang Xiangdong , Lui Su 
Published: October 2022

AbstractGrowing evidence shows that insomnia is closely associated with schizophrenia (SCZ), but the neural mechanism under the association remains unclear. A direct comparison of the patterns of resting-state brain activities would help understand the above question. Using meta-analytic approach, 11 studies of insomnia vs. healthy controls (HC) and 39 studies of SCZ vs. HC were included to illuminate the common and distinct patterns between insomnia and SCZ. Results showed that SCZ and insomnia shared increased resting-state brain activities in frontolimbic structures including the right medial prefrontal gyrus (mPFC) and left parahippocampal gyrus. SCZ additionally revealed greater increased activities in subcortical areas including bilateral putamen, caudate and right insula and greater decreased activities in precentral gyrus and orbitofrontal gyrus. Our study reveals both shared and distinct activation patterns in SCZ and insomnia, which may provide novel insights for understanding the neural basis of the two disorders and enlighten the possibility of the development of treatment strategies for insomnia in SCZ in the future.
A highway vehicle routing dataset during the 2019 Kincade Fire evacuation
Authors: Xu Yiming , Zhao Xilei , Lovreglio Ruggiero , Kuligowski Erica , Nilsson Daniel , Cova Thomas J. , Yan Xiang 
Published: October 2022

AbstractAs the threat of wildfire increases, it is imperative to enhance the understanding of household evacuation behavior and movements. Mobile GPS data provide a unique opportunity for studying evacuation routing behavior with high ecological validity, but there are little publicly available data. We generated a highway vehicle routing dataset derived from GPS trajectories generated by mobile devices (e.g., smartphones) in Sonoma County, California during the 2019 Kincade Fire that started on October 23, 2019. This dataset contains 21,160 highway vehicle routing records within Sonoma County from October 16, 2019 to November 13, 2019. The quality of the dataset is validated by checking trajectories and average travel speeds. The potential use of this dataset lies in analyzing and modeling evacuee route choice behavior, estimating traffic conditions during the evacuation, and validating wildfire evacuation simulation models.
Size-fractionated microbiome observed during an eight-month long sampling in Jiaozhou Bay and the Yellow Sea
Authors: Tao Jianchang , Wang Wenxiu , Weissman JL , Zhang Yongyu , Chen Songze , Zhu Yuanqing , Zhang Chuanlun , Hou Shengwei 
Published: October 2022

AbstractJiaozhou Bay is a typical semi-enclosed bay with a temperate climate imposed by strong anthropogenic influence. To investigate microbial biodiversity and ecosystem services in this highly dynamic coastal environment, we conducted a monthly microbial survey spanning eight months at two stations in the bay and the open Yellow Sea starting in April 2015. This report provides a comprehensive inventory of amplicon sequences and environmental microbial genomes from this survey. In total, 2,543 amplicon sequence variants were obtained with monthly relative abundance profiles in three size fractions (>2.7 μm, 2.7–0.7 μm, and 0.7–0.22 μm). Shotgun metagenomes yielded 915 high-quality metagenome-assembled genomes with ≥50% completeness and ≤5% contamination. These environmental genomes comprise 27 bacterial and 5 archaeal phyla. We expect this comprehensive dataset will facilitate a better understanding of coastal microbial ecology.
Comparative performance assessment of deep learning based image steganography techniques
Authors: Himthani Varsha , Dhaka Vijaypal Singh , Kaur Manjit , Rani Geeta , Oza Meet , Lee Heung-No 
Published: October 2022

AbstractIncreasing data infringement while transmission and storage have become an apprehension for the data owners. Even the digital images transmitted over the network or stored at servers are prone to unauthorized access. However, several image steganography techniques were proposed in the literature for hiding a secret image by embedding it into cover media. But the low embedding capacity and poor reconstruction quality of images are significant limitations of these techniques. To overcome these limitations, deep learning-based image steganography techniques are proposed in the literature. Convolutional neural network (CNN) based U-Net encoder has gained significant research attention in the literature. However, its performance efficacy as compared to other CNN based encoders like V-Net and U-Net++ is not implemented for image steganography. In this paper, V-Net and U-Net++ encoders are implemented for image steganography. A comparative performance assessment of U-Net, V-Net, and U-Net++ architectures are carried out. These architectures are employed to hide the secret image into the cover image. Further, a unique, robust, and standard decoder for all architectures is designed to extract the secret image from the cover image. Based on the experimental results, it is identified that U-Net architecture outperforms the other two architectures as it reports high embedding capacity and provides better quality stego and reconstructed secret images.
Clinical factors and dopamine transporter availability for the prediction of outcomes after globus pallidus deep brain stimulation in Parkinson’s disease
Authors: Lee Seung Hyun , Kim Mina , Lee Jooyoung , Kim Jae-Woo , Kim Mi Sun , Jo Sungyang , Jeon Sang Ryong , Chung Sun Ju 
Published: October 2022

AbstractWe aimed to investigate the predictive value of preoperative clinical factors and dopamine transporter imaging for outcomes after globus pallidus interna (GPi) deep brain stimulation (DBS) in patients with advanced Parkinson’s disease (PD). Thirty-one patients with PD who received bilateral GPi DBS were included. The patients underwent preoperative [18F] FP-CIT positron emission tomography before DBS surgery. The Unified Parkinson’s Disease Rating Scale (UPDRS) were used to assess outcomes 12 months after DBS. Univariate and multivariate linear regression analysis were performed to investigate the association between clinical variables including sex, age at onset of PD, disease duration, cognitive status, preoperative motor severity, levodopa responsiveness, daily dose of dopaminergic medication, and dopamine transporter availability in the striatum and outcomes after GPi DBS. Younger age at onset of PD was associated with greater DBS motor responsiveness and lower postoperative UPDRS III score. Greater levodopa responsiveness, lower preoperative UPDRS III score and lower striatal dopamine transporter availability were associated with lower postoperative UPDRS III score. Younger age at onset was also associated with greater decrease in UPDRS IV score and dyskinesia score after GPi DBS. Our results provide useful information to select DBS candidates and predict therapeutic outcomes after GPi DBS in advanced PD.
Humoral and cellular immune response over 9 months of mRNA-1273, BNT162b2 and ChAdOx1 vaccination in a University Hospital in Spain
Authors: Fernández-Ciriza Leire , González Álvaro , del Pozo José Luis , Fernández-Montero Alejandro , Carmona-Torre Francisco , Carlos Silvia , Sarasa María del Mar , Reina Gabriel 
Published: October 2022

AbstractScarce data have been reported about cellular immunity and longevity for different COVID-19 vaccination schedules. We carried out a prospective study enrolling 709 healthcare workers receiving two doses of mRNA-1273, BNT162b2, ChAdOx1, ChAdOx1/BNT162b2 or ChAdOx1 single dose to compare humoral and cellular immunogenicity across 9 months. Higher SARS-CoV-2 spike antibody levels were observed among individuals with hybrid immunity with one dose of any vaccine in comparison to uninfected individuals receiving two doses (mRNA-1273: 20,145 vs 4295 U/mL; BNT162b2: 15,659 vs 1959 U/mL; ChAdOx1: 5344 vs 2230 U/mL), except for ChAdOx1/BNT162b2 heterologous schedule (12,380 U/mL). Naturally infected individuals did not increase substantially the titers after the second dose and showed higher levels throughout the 9 months follow-up. The mean elimination half-life of antibodies among COVID-19 naïve participants was 98, 111, 60 and 36 days, for mRNA-1273, BNT162b2, ChAdOx1/ChAdOx1 and ChAdOx1/BNT162b2, respectively. Cellular immunity was preserved in 96%, 98%, 88% and 92% of uninfected individuals who received mRNA-1273, BNT162b2, ChAdOx1/ChAdOx1 and ChAdOx1/BNT162b2 after 6/9 months. Individuals with specific T cells showed robust long lasting protection, especially when m-RNA based vaccines are inoculated. These data may influence the validity of the vaccination passport and the need for booster vaccinations.
Comprehensive immunophenotypic analysis reveals the pathological involvement of Th17 cells in Graves' disease
Authors: Torimoto Keiichi , Okada Yosuke , Nakayamada Shingo , Kubo Satoshi , Kurozumi Akira , Narisawa Manabu , Tanaka Yoshiya 
Published: October 2022

AbstractGraves' disease (GD) is an organ-specific autoimmune disease, but there are a few studies that have evaluated how immunophenotypes are related to clinical symptoms and intractable pathology, or the effects of treatment on immunophenotypes. We performed peripheral blood immunophenotyping in GD. We assessed the proportion of functional subsets of T helper cells (such as Th1, Th17, Treg and Tfh cells), B cells (Naïve, IgM memory, Class-switched, IgD−CD27− double negative and Plasmablasts cells), Monocytes, Dendritic cells and NK cells, and evaluated the relationship of immunophenotypes with clinical indices, disease activity, risk of relapse, and changes in immunophenotypes after treatment with antithyroid drugs. The activated Th17 cells, activated T follicular helper (Tfh) cells, and IgD−CD27− double-negative B cells were higher in newly onset GD compared with healthy participants. Th17 cells were associated with thyroid autoantibodies, thyroid function, thyroid enlargement, and Graves' Recurrent Events After Therapy (GREAT) score; while double-negative B cells were associated with thyroid autoantibodies. Treatment with antithyroid drugs decreased the activated Tfh cells in parallel with the improvement in thyroid function. However, activated Th17 cells were not associated with clinical improvement and remained unchanged. Peripheral blood immunophenotyping identified the differential involvement of T and B cell subsets in the pathogenesis of GD. Abnormalities in the differentiation of Th17, Tfh, and double-negative B cells reflected the clinical pathology associated with autoantibody production and excess thyroid hormones. And Th17 cells are significantly associated with the marker for resistance to treatment. These results suggest the involvement of Th17 cell activation in the intractable pathology associated with potential immune abnormalities in GD.
Clinical trial registration: #UMIN000017726 (Date: June 1st, 2015).
Lack of ITS sequence homogenization in Erysimum species (Brassicaceae) with different ploidy levels
Authors: Osuna-Mascaró Carolina , de Casas Rafael Rubio , Berbel Modesto , Gómez José M. , Perfectti Francisco 
Published: October 2022

AbstractThe internal transcribed spacers (ITS) exhibit concerted evolution by the fast homogenization of these sequences at the intragenomic level. However, the rate and extension of this process are unclear and might be conditioned by the number and divergence of the different ITS copies. In some cases, such as hybrid species and polyploids, ITS sequence homogenization appears incomplete, resulting in multiple haplotypes within the same organism. Here, we studied the dynamics of concerted evolution in 85 individuals of seven plant species of the genus Erysimum (Brassicaceae) with multiple ploidy levels. We estimated the rate of concerted evolution and the degree of sequence homogenization separately for ITS1 and ITS2 and whether these varied with ploidy. Our results showed incomplete sequence homogenization, especially for polyploid samples, indicating a lack of concerted evolution in these taxa. Homogenization was usually higher in ITS2 than in ITS1, suggesting that concerted evolution operates more efficiently on the former. Furthermore, the hybrid origin of several species appears to contribute to the maintenance of high haplotype diversity, regardless of the level of ploidy. These findings indicate that sequence homogenization of ITS is a dynamic and complex process that might result in varying intra- and inter-genomic diversity levels.
Clinical determinants and prognostic significance of hypocapnia in acute heart failure
Authors: Garus Mateusz , Zdanowicz Agata , Fudim Marat , Zymliński Robert , Niewiński Piotr , Paleczny Bartłomiej , Rosiek-Biegus Marta , Iwanek Gracjan , Ponikowski Piotr , Biegus Jan 
Published: October 2022

AbstractThe aim of this research was to examine the prevalence of hyperventilation (defined by pCO2 value) among acute heart failure (AHF) patients and to link it with potential triggers and prognosis. All patients underwent dyspnea severity assessment and capillary blood examination on hospital admission and during hospitalization. Out of 241 AHF patients, 57(24%) were assigned to low pCO2 group (pCO2 ≤ 30 mmHg) and 184 (76%) to normal pCO2 group (pCO2 > 30 mmHg). Low pCO2 group had significantly lower HCO3- (22.3 ± 3.4 vs 24.7 ± 2.9 mmol/L, p < 0.0001) and significantly higher lactate level (2.53 ± 1.6 vs 2.14 ± 0.97 mmol/L, p = 0.03). No differences between groups were observed in respect to the following potential triggers of hyperventilation: hypoxia (sO2 92.5 ± 5.2 vs 92 ± 5.6% p = 0.57), infection (CRP 10.5[4.9–26.4]vs 7.15[3.45–17.35] mg/L, p = 0.47), dyspnea severity (7.8 ± 2.3vs 8.0 ± 2.3 points, p = 0.59) and pulmonary congestion (82.5 vs 89.1%, p = 0.19), respectively. Low pCO2 value was related to an increased 4-year all-cause mortality hazard ratio (HR) (95% CI) 2.2 (1.3–3.6); p = 0.002 and risk of death and of rehospitalization for HF, HR (95% CI) 2.0 (1.3–3.0); p = 0.002. Hyperventilation is relatively frequent in AHF and is related to poor prognosis. Low pCO2 was not contingent on expected potential triggers of dyspnea but rather on tissue hypoperfusion.
Comparison of the effectiveness of thiamethoxam and its main metabolite clothianidin after foliar spraying and root irrigation to control Myzus persicae on peach
Authors: Tian Fajun , Qiao Chengkui , Wang Caixia , Pang Tao , Guo Linlin , Li Jun , Pang Rongli , Liu Hui , Xie Hanzhong 
Published: October 2022

AbstractThe green peach aphid, Myzus persicae, is one of the most economically important pests in peach-growing areas around the world. In many countries, the application of insecticides is the main method to control and reduce the population of M. persicae. In this study, we investigated the effects and persistence of thiamethoxam against M. persicae by foliar spraying and root irrigation. The residues of thiamethoxam and clothianidin in peach were determined to assess food safety. The results showed that thiamethoxam treatment significantly reduced the population of M. persicae through foliar spraying and root irrigation. And the persistence of root irrigation on M. persicae was significantly longer than that of spraying. Thiamethoxam and clothianidin were absorbed by the roots, transported to other parts of the plant, and concentrated in the leaves, especially new leaves. The final residues of thiamethoxam and clothianidin in peaches were below the maximum residue limit (MRLs). These results suggested that thiamethoxam is more effective in M. persicae control through root irrigation than foliar spraying. The persistence of root irrigation on M. persicae was significantly longer than that of spraying. These results shed some light upon the control of M. persicae by root irrigation of thiamethoxam.