bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy
Authors: Luo Kai , Zheng Chenqing , Luo Rong , Cao Xin , Sun Huajun , Ma Huihui , Huang Jichang , Yang Xu , Wu Xiushan , Li Xiaoping 
Published: June 2022

Abstract
BackgroundFamilial dilated cardiomyopathy (DCM) is a genetic cardiomyopathy that is associated with reduced left ventricle function or systolic function. Fifty-one DCM-causative genes have been reported, most of which are inherited in an autosomal dominant manner. However, recessive DCM-causative gene is rarely observed.MethodsWhole-exome sequencing (WES) was performed in a consanguineous family with DCM to identify candidate variants. Sanger sequencing was utilized to confirm the variant. We then checked the DCM candidate gene in 210 sporadic DCM cases. We next explored BICD2 function in both embryonic and adult bicd2-knockout zebrafish models. In vivo cardiac function of bicd2-knockout fish was detected by echocardiography and RNA-seq.ResultsWe identified an autosomal recessive and evolutionarily conserved missense variant, NM_001003800.1:c.2429G>A, in BICD2, which segregated with the disease phenotype in a consanguineous family with DCM. Furthermore, we confirmed the presence of BICD2 variants in 3 sporadic cases. Knockout of bicd2 resulted in partial embryonic lethality in homozygotes, suggesting a vital role for bicd2 in embryogenesis. Heart dilation and decreased ejection fraction, cardiac output and stroke volume were observed in bicd2-knockout zebrafish, suggesting a phenotype similar to human DCM. Furthermore, RNA-seq confirmed a larger transcriptome shift in in bicd2 homozygotes than in heterozygotes. Gene set enrichment analysis of bicd2-deficient fish showed the enrichment of altered gene expression in cardiac pathways and mitochondrial energy metabolism. Conclusionswe present the first finding of an autosomal recessive BICD2 variant that is associated with familial DCM, providing further insight into the molecular pathological mechanism of DCM.
Effects of dam building on Niche differentiation of Comammox Nitrospira in the main stream of the Three Gorges Reservoir area
Authors: Liu Shuang , Zhang Jiahui , Wang Yuchun , Hu Mingming , Bao Yufei , Li Shanze , Wen Jie , Zhao Jianwei 
Published: June 2022

Abstract
Comammox Nitrospira can completely oxidize ammonia nitrogen to nitrate, and the various habitats of comammox Nitrospira are an important guarantee for its survival. This study investigated comammox in river sediments in the Three Gorges Reservoir area. Comammox clade A and comammox clade B were detected in all samples, in which comammox clade A was dominant, and the OUTs detected from comammox clade B (14 OTUs) were more than those detected from comammox clade A. 1 (11 OTUs) and comammox clade A.2 (4 OTUs). The abundance of comammox Nitrospira clade A and clade B amoA genes in the main stream of the Three Gorges Reservoir indicated an increasing trend along the river stream, and reached the maximum in the of the reservoir area. The highest abundance of AOA amoA genes appeared in the upper stream section of the reservoir area. Comammox Nitrospira clade A exhibited the highest abundance (3.00×104±8782.37 copies/g), followed by comammox Nitrospira clade B (1.83×103±1019.82 copies/g), AOB (1.28×103±574.69 copies/g), AOA (1.73 ×102±48.05 copies/g). Both the abundances of comammox clade A and B were positively correlated with sediment pH, indicating that pH was an important environmental factor affecting the growth of comammox bacteria. The Mantel test chart indicated that overlying water dissolved oxygen (DO) in the reservoir area had a significant effect on the differentiation of comammox clade A into comammox clade A.1 and comammox clade A.2. This study confirms that the construction of the Three Gorges Dam has an impact on the niche differentiation of comammox Nitrospira in the main stream of the Three Gorges Reservoir area.
Risk factors associated with nerve injury following third molar surgery at an Australian university dental school: a 4-year retrospective study
Authors: Choudhari Shoaib , Park Joon Ha , Reher Vanessa , Reher Peter 
Published: June 2022

Abstract
Purpose: Nerve injury during the removal of third molars in oral surgery is a rare complication; however, it could lead to severe and long-term complications. For this study, data regarding third molar extractions were collected to identify predictive risk factors for inferior alveolar nerve and lingual nerve injuries. Methods: Clinical and radiographic data from Griffith University electronic records were obtained from January 2015 to December 2018. Out of 2826 extractions realised during that period, only fifteen nerve injuries were identified. Results: The incidence of nerve injury encountered was 0.35% for the inferior alveolar nerve and 0.18% related to the lingual nerve, both lower than incidences shown in previous studies. Moreover, no permanent nerve injuries were identified. The mean resolution time for the injuries was eight weeks. This study also identified several risk factors associated with inferior alveolar and lingual nerve injuries, such as the gender and age of the patients, the type of impaction and angulation of the tooth, the type of surgical technique and incision performed, and the proximity to the inferior alveolar canal. Conclusion: Overall, inferior alveolar nerve and lingual nerve injury incidences at Griffith University dental school were lower than the current literature, and no permanent nerve injury was encountered.
Generational Divide in Preferences for Forest Carbon Sequestration vs Preservation of Agricultural Landscapes
Authors: Liu Xiaozi , Lindhjem Henrik , Grimsrud Kristine , Leknes Einar , Tvinnereim Endre 
Published: June 2022

Abstract
Afforestation is considered an important measure for climate change mitigation. As land area that can be used for tree planting serves multiple purposes, it is vital to strike the right balance between climate and other objectives. We conducted a national survey in Norway to infer potential land use conflicts that may arise from executing a large-scale afforestation program. Citizens were presented three land use alternatives to replace formerly grazed agriculture land. We used manipulated landscape photos to illustrate policy impacts to the respondents and employed a combination of multiple correspondence analysis and a latent class regression model to reveal preference heterogeneity. Respondents cluster into three latent classes according to their value orientation, where approximately 20%, 40% and 40% citizens perceive forest carbon sequestration, agriculture, and recreation, respectively, as the most important land use functions to retain. Birth cohort is a strong predictor of the class membership: there is a stark generational difference between the baby boomers (born before 1960) and the generations born after 1980, with the baby boomers overwhelmingly supporting the continuation of agricultural landscapes. However, every ten-year reduction in respondent age increases the odds of a respondent belonging to the recreation- or forestation-preferring class (relative to the agriculture class) by factors of 1.9 and 1.4, respectively. Natural forests were perceived more favorably than mono-culture spruce plantation even among the respondents classified as the most climate concerned.
Sustaining the traditional ‘Kasuti embroidery’ by digital embroidery software
Authors: sarita Sarita Devi , Sushila Sushila , nisha Nisha Arya , sunil Sunil Changdev Talekar 
Published: June 2022

Abstract
Indian embroideries are popular all over the world and are highly liked (Sapra, K. 2015). Kasuti embroidery has its own regional identity and has crossed borders to be marketed in different parts of the world. Traditional Kasuti embroidery with ethnic designs and motifs with brilliant colours bear an individual hallmark of Indian textile design (Bennur and Gavai 2015). The success factor of Indian regional embroidery ‘Kasuti’ included: Customer specific designs and products, incorporating global styles” (Tiwari, A. and Anjali. 2019). In the present study, traditional ‘Kasuti’ embroidery motifs were explored and collected for the creative& innovative designing. Top-ranked motifs were selected for innovative design development and designs were developed with the help of Corel DRAW X3 software. After then digitize the selected designs using Wilcom E2 embroidery software. Respondents were evaluated the products on the basis of different parameters like techniques, aesthetic appeal, design placement, uniqueness of design and overall appearance. The study were found that all the developed products by using digital embroidery softwares are highly preferred by consumers, they are ready to purchase the articles and developed article were created the look of original hand embroidery.
Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-Glycosylation
Authors: Erger Florian , Aryal Rajindra , Reusch Björn , Matsumoto Yasuyuki , Meyer Robert , Zeng Junwei , Knopp Cordula , Noel Maxence , Wenzel Andrea , Kohl Stefan , Tschernoster Nikolai , Rappl Gunter , Schröder-Braunstein Jutta , Seibert Felix , Thiele Holger , Häusler Martin , Weber Lutz , Büttner-Herold Maike , Elbracht Miriam , Cummings Sandra , Altmüller Janine , Habbig Sandra , Cummings Richard , Beck Bodo 
Published: June 2022

Abstract
The galactosyltransferase T-synthase exclusively synthesizes the T-antigen, a ubiquitous Oglycan core structure. Its function is dependent on its specific molecular chaperone, Cosmc (C1GALT1C1). In two maternal half-brothers with developmental delay, immunodeficiency, short stature, thrombocytopenia and acute kidney injury (AKI) resembling atypical hemolytic uremic syndrome, we identified the hemizygous variant c.59C > A (p.Ala20Asp) in Xchromosomal C1GALT1C1. Their heterozygous mother and maternal grandmother show an attenuated phenotype with skewed X-inactivation in blood. AKI in the male patients proved fully responsive to treatment with the complement inhibitor Eculizumab. This germline variant within the transmembrane domain of Cosmc causes dramatically reduced expression of the Cosmc chaperone with a significant reduction of Tsynthase enzyme activity, resulting in incomplete O-glycosylation. Transfection of patient cells with wildtype C1GALT1C1 partially rescued this glycosylation defect. We also detected very high levels of galactose-deficient IgA1 in all four affected individuals.
Identifying suitable source and optimum rate of silicon in rice at Ganges Delta Coastal Zone Soils
Authors: Haque Mohammad Asadul , Jahiruddin Md , Islam Md. , Hoque Md Fazlul , Hossain Md Baktear , Satter Md Abdus , Haque Md Enamul , Bell Richard William 
Published: June 2022

Abstract
Purpose: Silicon established as a beneficial nutrient element especially for cereals, however it’s suitable source and optimum rate of application as a chemical fertilizer still not recommended. The purpose of the study was to identify the suitable source and optimum rate of silicon for growing rice at Ganges delta coastal zone soils. Methodology: Two similar succeeding field experiments: one at early monsoon season with T. Aus rice and another at monsoon season with T. Aman rice in 2021 were carried out using a two factor split plot design having replicated thrice. The first factor was three different sources of silicon (silicic acid, sodium meta silicate and calcium silicate) and second factor was seven rates of silicon (0, 1, 2, 5, 10, 20 and 40 kg Si ha-1). Results: Using a quadratic model the optimum rate of silicic acid, sodium meta silicate and calcium silicate were 32.2, 25.7 and 23.6 kg Si ha-1 for T. Aus rice, and 42.9, 25.8 and 24.5 kg Si ha-1 for T. Aman rice, respectively. Calcium silicate was the best source of silicon as it shows best response with smaller rates of silicon. Sodium meta silicate had the second and silicic acid had the lowest performance. Increasing Si rates progressively increases the Si content, Si uptake and chlorophyll content of rice. Conclusion: Calcium silicate with 24 kg Si ha-1 is recommended for rice at Ganges delta coastal zone soils.
Multiplexed immunofluorescence analysis of CAF-markers, EZH2 and FOXM1 in Gastric Tissue: Associations with Clinicopathological Parameters and Clinical Outcomes
Authors: Sun Hui , Wang Xin , Wang Xu , Tan Cong , Weng Weiwei , Zhang Meng , Ni Shujuan , Wang Lei , Huang Dan , Sheng Weiqi , Xu Midie 
Published: June 2022

Abstract
Background: The aim of this study is to explore the expression and clinical relevance of CAF-associated markers, EZH2 and FOXM1 in gastric samples. Methods: Protein expression were detected and evaluated by multi-plex immunofluorescence (mIF) in 93 cases of gastric cancer (GC) and 31 cases of gastric intraepithelial neoplasia (GIN). The correlation among their expression, and the relationship of them with clinicopathological parameters and prognosis in GC were then analyzed.Results: FAP was specific expressed in the CAFs of GC samples, and thus be utilized as a CAF-associated marker in our subsequently analysis. The immunostaining of EZH2, FOXM1 and FAP were significantly upregulated in patients with GC tissues than in those normal gastric mucosa or GIN tissues. The average fluorescence intensity of FAP was slightly positive correlated with EZH2 in GC, GIN and normal samples, whereas the percent of FAP positive cells has no correlation with that of EZH2. Both the percent of positive cells and the average fluorescence intensity of FOXM1 were positive correlated with that of FAP and EZH2 in GC, GIN and normal samples, except for FOXM1 and EZH2 expression in normal tissue samples. No significant association was observed between FAP expression and any clinicopathological parameters, whereas the positive frequency of EZH2 and FOXM1 were correlated with tumor location significantly and tumor invasion depth, respectively. In addition, there was strong positive correlations between FAP protein expression and overall survival (OS) and disease-free survival (DFS), and EZH2 expression was positive associated with OS in patients with GC. Furthermore, EZH2 and FAP protein expression was an independent prognostic factor for OS and DFS, respectively. Conclusions: These results suggest that both EZH2 and FOXM1 expression was positive associated with CAFs abundance in GC. They may be potential cellular target for therapeutic intervention, especially in patients with abundant CAFs.
Immunization with a recombinant ASP-2/Transialidase chimeric protein induces robust protective immunity in both murine and canine models of Chagas’ disease
Authors: Gazzinelli Ricardo , de Castro Julia Teixeira , De Brito Rory Cristiane , Hojo-Souza Natalia , Azevedo Barbara , Salazar Natalia , Ferreira Camila , Junqueira Caroline , Fernandes Ana Paula , Vasconcelos Jose , Cardoso Jamille Mirelle , Aguiar-Soares Rodrigo , Vieira Paula , Carneiro Claudia , Salazar Andres , Caballero Otavia , Teixeira Santuza , Reis Alexandre 
Published: June 2022

Abstract
We have systematically shown that the Amastigote Surface Protein-2 (ASP-2) and Transialidase (TS) antigens either in the form of recombinant protein or encoded in the plasmids and human adenovirus 5 (hAd5) confer strong protection against different lineages of Trypanosoma cruzi parasites. Herein we generated a chimeric protein containing the most immunogenic regions for T and B cells from ASP-2 and TS (DTT-1) and evaluated its efficacy in comparison with our standard protocol of heterologous prime-boost using plasmids and hAd5. Our results show that mice immunized with DTT-1 protein together with Poly-ICLC (Hiltonol) become highly resistant to challenge with the Y strain of T. cruzi, showing a large decrease in tissue parasitism, parasitemia and no lethality. This protection lasted for at least 3 months after the last boost of immunization and an equivalent level of protection induced by the DNA/hAd5 protocol. DTT-1 induced high levels of T. cruzi-specific antibodies and IFNγ-producing T cells and protection was mediated by B lymphocytes, CD8 T cells and IFNγ. Finally, we evaluated the toxicity, immunogenicity and efficacy of the DTT-1 and DNA/hAd5 formulations in dogs. Mild collateral effects were detected at the site of vaccine inoculation. While the chimeric protein associated to Poly-ICLC induced high levels of antibodies and CD4+ T cell responses, the DNA/hAd5 induced no antibodies, but a strong CD8+ T cell response. Immunization with either vaccine formulations protected dogs against challenge with the Berenice strain of T. cruzi. Despite to the similar efficacy, we conclude that moving ahead with DTT-1 together with Hiltonol is advantageous over the hAd5 vaccine due to the cost-benefit for development and large-scale production.
Hyperinflation and its Association with Successful Transition to Home Ventilator Devices in Infants with Chronic Respiratory Failure and Severe Bronchopulmonary Dysplasia
Authors: Lagoski Megan , Reisfeld Michael , Carpenter Ryan , Lamorena Emilee , Goodman Denise , Murthy Karna 
Published: June 2022

Abstract
Objective
To estimate the association between lung hyperinflation and the time to successful transition to outpatient ventilators in infants with sBPD and chronic respiratory failure.
Design/Methods:
Infants with sBPD < 32 weeks’ gestation who received tracheostomies were identified. Hyperinflation was the main exposure. Time from tracheostomy to successful transition to the outpatient device was the main outcome. Kaplan-Meier and multivariable Cox proportional hazards were used to estimate the relationships between hyperinflation and the main outcome.
Results
Sixty-two infants were included; 26 (42%) were hyperinflated. Eleven died before transition, and 51 successfully transitioned. Hyperinflation was associated with both mortality (31% vs 8.3%, p = 0.02) and an increased duration (72 vs. 56 days) to successful transition (hazard ratio (HR) = 0.38, 95% CI: 0.19, 0.76, p = 0.006). Growth velocity was similar after tracheostomy placement.
Conclusions
In infants with chronic respiratory failure and sBPD < 32 weeks’ gestation, hyperinflation is related to mortality and inpatient morbidities.
Effect of Low Dose Denosumab on Bone Mineral Density in Postmenopausal Women with Osteoporosis After a Transition From 60mg Dose: A Prospective Observational Study
Authors: Khan Aliya A. , AbuAlrob Hajar , M’Hiri Iman , ALI Dalal S. , Dandurand Karel , Said Hosay , Alkassem Hisham , Hakami Yasser , Hweija Ismail , Iqbal Salman , Romanovschi Mihai Radu , Mehmood Shehryar , Zariffeh Heather , Guyatt Gordon , Ibrahim Quazi , Brignardello-Petersen Romina 
Published: June 2022

Abstract
Introduction:
Denosumab is an effective antiresorptive molecule and reduces the risk of fracture in postmenopausal osteoporosis. Cessation of denosumab therapy however is associated with rapid declines in bone mineral density (BMD), rises in bone remodelling and an increased risk of fracture. We evaluated the effect of low dose denosumab (30mg every 6 months) on the prevention of bone loss following a switch from standard dose (60mg of denosumab every 6 months) in a prospective observational study.
Methods
We recruited 114 women 50–90 years of age with postmenopausal osteoporosis at a moderate fracture risk without prior fragility fractures who had been on denosumab 60mg every 6 month. These women switched to low dose denosumab 30mg every 6 months. Mean % change in lumbar spine (LS), femoral neck (FN), total hip (TH) and 1/3 distal radius (1/3RAD) BMD at 12 and 24 months were evaluated. Predictors for change in BMD were explored. Subgroup analysis for patients on denosumab 60mg every 6 months for < 3 years and for ≥ 3 years before switching to low dose denosumab 30mg was explored.
Results
At 12 months, there was an increase in LS BMD mean % change (+ 2.03%, 95% CI 1.18–2.88, p < 0.001). BMD was stable at the hip and radial sites. Age was found to be a predictor of the mean % change of LS BMD for the overall sample. At 24 months, there was a further increase in LS BMD mean % change (+ 3.44%, 95% CI 1.74–5.12, p < 0.001), with stable BMD at other skeletal sites. The 12 month mean BMD % change at the LS (p = 0.015), FN (p < 0.001), TH (p < 0.001), and 1/3 RAD (p < 0.001) were found to be predictors of the 24 month mean BMD % change. No clinical fractures were reported during 24 months of follow up.
Conclusion
We observed stable BMD following a switch from denosumab 60mg every 6 months to 30mg every 6 monhts in this prospective observational study conducted in postmenopausal women at a moderate fracture risk
Functional Connectivity Uniqueness and Stability? A Signature of Cognitive and Psychiatric Problems in Children
Authors: Fu Zening , Liu Jingyu , Salman Mustafa , Sui Jing , Calhoun Vince 
Published: June 2022

Abstract
Brain functional connectivity (FC) derived from functional magnetic resonance imaging (fMRI) has been serving as a potential “fingerprint” for adults. However, intra-subject variation of FC can be substantial and carry biologically meaningful information, especially during adolescence, a time of intense brain changes. Here, for the first time, we performed a large-scale analysis on cross-scan FC stability and its association with a diverse range of health measures in children from the Adolescent Brain Cognitive Development (ABCD) data. Functional network connectivity (FNC), a network analog of FC, was extracted via an automated independent component analysis framework on 9071 subjects (age: 9 ~ 11 years) and compared across 4 scans. We found that the FNC profile can identify a given child from a large group with high accuracy (> 80%), though intra-subject variations exist cross-scan. The robustness of this finding is verified by replicating the child identification using the second-year scans and between longitudinal scans with a two-year interval. Moreover, cross-scan FNC stability was predictive of sleep condition, cognitive performance, and psychiatric problems in children, with higher stability correlated with better cognitive performance, longer sleep duration, and less psychotic expression. Meanwhile, parental psychopathology and prenatal exposure were associated with the FNC stability in their children. Overall, our findings show that a child’s connectivity profile is not only intrinsic but also exhibits reliable variability cross-scan, regardless of brain growth and development. The intra-subject connectivity stability may serve as a valuable biomarker to draw inferences on early cognitive and psychiatric behaviors in children.