bluuebunny/crossref_metadata_2025_split huggingface dataset:
Myopathy mutations in DNAJB6 slow conformer specific substrate processing that is corrected by NEF modulation
Authors: Bhadra Ankan , Rau Michael , Daw Jil , Fitzpatrick James , Weihl Conrad C. , True Heather 
Published: January 2022

Abstract
Molecular chaperones, or heat shock proteins (HSPs), protect against the toxic misfolding and aggregation of proteins. As such, mutations or deficiencies within the chaperone network can lead to disease. In fact, dominant mutations in DNAJB6 (Hsp40/Sis1), an Hsp70 co-chaperone, leads to a protein aggregate myopathy termed Limb-Girdle Muscular Dystrophy Type D1 (LGMDD1). DNAJB6 client proteins and co-chaperone interactions in skeletal muscle are not known. Here, we used the yeast prion model client in conjunction with in vitro chaperone activity assays to gain mechanistic insights, and found that LGMDD1 mutants affect Hsp40 functions. Strikingly, the mutants changed the structure of client protein aggregates, as determined by altered distribution of prion strains. They also impair the Hsp70 ATPase cycle, dimerization, and substrate processing and consequently poison the function of wild-type protein. These results define the mechanisms by which LGMDD1 mutations alter chaperone activity and provide avenues for therapeutic intervention.
A Novel Normalization Algorithm to Facilitate Pre-Assessment of Covid-19 Disease from Chest X-ray Image and its FPGA implementation
Authors: Yaman Sertaç , Karakaya Barış , erol yavuz 
Published: January 2022

Abstract
COVID-19 is still a fatal disease, which has threatened all people by affecting the human lungs. Chest X-Ray or computed tomography (CT) imaging is commonly used to make a fast and reliable medical investigation to detect the COVID-19 virus from these medical images is remarkably challenging because it is a full-time job and prone to human errors. In this paper, a new normalization algorithm that consists of Mean-Variance-Softmax-Rescale (MVSR) processes respectively is proposed to provide facilitation pre-assessment and diagnosis Covid-19 disease. In order to show the effect of MVSR normalization technique on image processing, the algorithm is applied to chest X-ray images. Therefore, the normalized X-ray images with MVSR are used to recognize via one of the neural network models as known Convolutional Neural Networks (CNNs). At the implementation stage, the MVSR algorithm is executed on MATLAB environment, then it is implemented on FPGA platform. All the arithmetic operations of the MVSR normalization are coded in VHDL with the help of fixed-point fractional number representation format. The experimental platform consists of Zynq-7000 Development Board and VGA monitor to display the both original X-ray and MVSR normalized image. The CNN model is constructed and executed using Anaconda Navigator interface with python language. Based on the results of this study, infections of Covid-19 disease can be easily diagnosed for MVSR normalized image. The proposed MVSR normalization makes the accuracy of CNN model increase from 83.01%, to 96.16% for binary class of chest X-ray images.
Effects of mixtures containing chlordecone and a dechlorinated by-product on hydra regeneration capacity: use of experimental design to evaluate the toxicity risk associated with remediation programs in long-lasting polluted areas
Authors: Moreau Xavier , Claeys-Bruno Magalie , Andraud Jean-Pascal , Macarie Hervé , Martínez Daniel E , Robin Maxime , Sergent Michelle , De Jong Laetitia 
Published: January 2022

Abstract
Chlordecone (CLD), an obsolete insecticide, used in the French West Indies between 1972 and 1993, is persistent in the environment but can be dechlorinated either chemically or under the action of microorganisms. Therefore, if soil remediation programs based on these processes are implemented in areas still contaminated today, those will see their concentrations of dechlorinated derivatives increase and these compounds will be also found in freshwater by streaming, leaching and erosion processes. The purpose of the present study was to evaluate, at environmental concentrations, the toxic effects of mixtures of chlordecone and a three-chlorine substituted byproduct. A hydra clone, which has been confirmed to be Hydra vulgaris Pallas, 1766 has been retained for bioassays where the toxicity has been evaluated by regeneration capacity during exposure. Exposure to mixtures is complex to investigate by classical methods, therefore, an experimental design associated to a mathematical model has been used to predict the effects of all the mixtures and to detect the toxic influence of each compound. The predictive model is discussed regarding the stochastic “endocrine disruptor effect” of CLD. At probable environmental concentrations of the compounds in the mixture, results show that impairment of regeneration capacity is explained mostly by the presence of CLD in the mixtures and support the implementation of remediation programs aimed at dechlorination of this persistent organochlorine pesticide.
Polynomial Mendelian Radomization reveals widespread
non-linear causal effects in the UK Biobank
Authors: Sulc Jonathan , Sjaarda Jennifer , Kutalik Zoltan 
Published: January 2022

Abstract
Causal inference is a critical step in improving our understanding of biological processes and Mendelian randomisation (MR) has emerged as one of the foremost methods to efficiently interrogate diverse hypotheses using large-scale, observational data from biobanks. Although many extensions have been developed to address the three core assumptions of MR-based causal inference (relevance, exclusion restriction, and exchangeability), most approaches implicitly assume that any putative causal effect is linear. Here we propose PolyMR, an MR-based method which provides a polynomial approximation of an (arbitrary) causal function between an exposure and an outcome. We show that this method provides accurate inference of the shape and magnitude of causal functions with greater accuracy than existing methods. We applied this method to data from the UK Biobank, testing for effects between anthropometric traits and continuous health-related phenotypes and found most of these
(84%) to have causal effects which deviate significantly from linear. These deviations ranged from slight attenuation at the extremes of the exposure distribution, to large changes in the
magnitude of the effect across the range of the exposure (e.g. a 1 kg/m2 change in BMI having stronger effects on glucose levels if the initial BMI was higher), to non-monotonic causal relationships (e.g. the effects of BMI on cholesterol forming an inverted U shape). Finally, we show that the linearity assumption of the causal effect may lead to the misinterpretation of health risks at the individual level or heterogeneous effect estimates when using cohorts
with differing average exposure levels.
Distribution characteristics of microplastics in the soil of mangrove restoration wetland and the effects of microplastics on soil characteristics
Authors: Hu Bo , Guo Peiyong , Han Siyu , Jin Yifan , Nan Yiting , Deng Jun , He Junming , Wu Yaqing , Chen Sijia 
Published: January 2022

Abstract
Microplastics that enter the soil environment are transformed by migration and can affect soil properties, which in turn have an impact on soil function and biodiversity. In this study, we investigated the distribution of soil microplastics at different planting densities and their effects on soil properties in a mangrove restoration wetland. The results showed that the average abundance of soil microplastics in the study area was 2177.5 n/500g, with the largest proportion of 0.038-0.05 mm diameter microplastics accounting for 70.9% and the rest of the diameter microplastics accounting for less than 20%, indicating that the smaller the diameter microplastics are easy to accumulate in the wetland soil. The abundance of microplastics in the restored area by planting density was ranked as 0.5×0.5m > 1.0×0.5m > 1.0×1.0m > control area. Three microplastics, polyethylene terephthalate (PET, accounted for 52%), polyethylene (PE, accounted for 24%), and polypropylene (PP, accounted for 15%), were the most prevalent and dominant microplastics in the soils of the area. SEM images showed that fractures, tears, EDS spectroscopy showed that a large number of metals were detected on the surface of microplastics. PET can influence the distribution of soil particle size due to its adsorptive viscosity, which may affect soil structure. Apart from soil pH, all other physicochemical factors changed significantly in response to PET. Besides, the results of the CV analysis reflect that soils in vegetated areas are more susceptible to the effects of PET than bare ground soils resulting in greater variability in the properties.
Integrated Simulation Modeling Approach for Investigating Pore Water Pressure Induced Landslides
Authors: Beegum Sahila , Jainet P J , Emil Dawn , Sudheer K P , Das Saurav 
Published: January 2022

Abstract
Soil pore water pressure analysis is crucial for understanding landslide initiation and prediction. However, field-scale transient pore water pressure measurements are complex. This study investigates the integrated application of simulation models (HYDRUS-2D/3D and GeoStudio–Slope/W) to analyze pore water pressure-induced landslides. The proposed methodology is illustrated and validated using a case study (landslide in India, 2018). Model simulated pore water pressure was correlated with the stability of hillslope, and simulation results were found to be co-aligned with the actual landslide that occurred in 2018. Simulations were carried out for natural and modified hill slope geometry in the study area. The volume of water in the hill slope, temporal and spatial evolution of pore water pressure, and factor of safety were analysed. Results indicated higher stability in natural hillslope (factor of safety of 1.243) compared to modified hill slope (factor of safety of 0.946) despite a higher pore water pressure in the natural hillslope. The study demonstrates the integrated applicability of the physics-based models in analyzing the stability of hill slopes under varying pore water pressure and hill slope geometry and its accuracy in predicting future landslides.
The interactive effects of pre-pregnancy body mass index, thyroid function, and blood lipid levels on the risk of gestational diabetes mellitus: a crossover analysis
Authors: Wang Ying , Lu Sha , Xu Xianrong , Zhang Lijun , Yang Jun , Hu Wensheng 
Published: January 2022

Abstract
Background

Studies have demonstrated the associations between pre-pregnancy obesity, thyroid dysfunction, dyslipidemia, and increased risk of gestational diabetes mellitus (GDM) in pregnant women. This study was designed to investigate whether and to what extent, the interactions between these factors contribute to the risk of GDM.
Methods

A case-control study of 232 GDM cases and 696 controls was conducted among pregnant women from Hangzhou, China. Multiple logistic regression analysis was applied to identify independent risk factors of GDM. Crossover analysis was performed to assess the interactive effects of pre-pregnancy body mass index (pBMI), thyroid hormones, blood lipid profiles on the risk of GDM. The indexes including attributable proportion (AP) to the interaction and the relative excess risk due to interaction (RERI) were calculated.
Results

Chinese pregnant women with pBMI > 23 kg/m2 (adjusted: OR=4.162, P<0.001), high triglyceride levels (> 2.30 mmol/L) (adjusted: OR=1.735, P<0.001) and the free triiodothyronine/free thyroxine (FT3/FT4) ratio ≥0.502 (OR=4.162, P<0.001) have significantly increased risk of GDM. Crossover analysis indicated that there were significant interactions between pre-pregnancy overweight/obesity and FT3/FT4 ≥0.502(AP=0.550, P<0.001; RERI=7.586, P=0.009), high TG levels and FT3/FT4≥0.502 (AP=0.348, 95%CI=0.081~0.614, P=0.010; RERI =2.021, 95%CI=0.064~3.978, P=0.043) on the risk of GDM.
Conclusion

The interactions between pBMI and FT3/FT4 ratio, TG level, and FT3/FT4 ratio may have significant impacts on the risk of GDM in pregnant women. Such findings may help improve our understanding of the pathogenesis of GDM as well as develop comprehensive strategies for the management of GDM.
Parent Perceived Barriers and Facilitators of Children’s Adventurous Play in Britain: A Framework Analysis
Authors: Oliver Brooke E. , Nesbit Rachel J. , McCloy Rachel , Harvey Kate , Dodd Helen F. 
Published: January 2022

Abstract
Background: From a public health perspective there is growing interest in children’s play, including play involving risk and adventure, in relation to children’s physical and mental health. Regarding mental health, it is theorised that adventurous play, where children experience thrilling, exciting emotions, offers important learning opportunities that prepare children for dealing with uncertainty and help prevent anxiety. Despite these benefits, adventurous play has decreased substantially within a generation. Parents have a key role in facilitating or limiting children’s opportunities for adventurous play, but research identifying the barriers and facilitators parents perceive in relation to adventurous play is scarce. The present study therefore examined the barriers to and facilitators of adventurous play as perceived by parents of school-aged children in Britain. Methods: This study analysed data from a subsample of parents in Britain (n=377) who participated in the nationally representative British Children’s Play Survey. Parents responded to two open-ended questions pertaining to the barriers to and facilitators of children’s adventurous play. Responses were analysed using a Framework Analysis, an approach suitable for managing large datasets with specific research questions. Results: Four framework categories were identified: Social Environment; Physical Environment; Risk of Injury; Child Factors. Social Environment included barriers and facilitators related to parents, family and peers as well as community and society. Dominant themes related to perceptions about the certainty of child safety, such as supervision and the safety of society. Beliefs about the benefits of adventurous play for development and well-being were important facilitators. Physical Environment factors focused on safety and practical issues. Risk of Injury captured concerns about children being injured during play. Child Factors included child attributes, such as play preference, developmental ability and trait-like characteristics. Conclusions: Improved understanding of what influences parent perceptions of adventurous play can inform public health interventions designed to improve children’s opportunities for and engagement in adventurous play, with a view to promote children’s physical and mental health.
The Effects of Exercise Therapy Moderated by Sex in Rehabilitation of COVID-19
Authors: Rausch Linda Katharina , Puchner Bernhard , Fuchshuber Jürgen , Seebacher Barbara , Löffler-Ragg Judith , Pramsohler Stephan , Netzer Nikolaus C. , Faulhaber Martin 
Published: January 2022

Abstract
BackgroundPulmonary rehabilitation serves as a key component in the recovery of COVID-19 and standardized exercise therapy programs in pulmonary rehabilitation have been shown to significantly improve physical performance and lung function parameters in post-acute COVID-19 patients. However, it has not been investigated if these positive effects are equally beneficial for both sexes, especially considering a more severe physical impact of COVID-19 in men when compared to women. Therefore, the purpose of this study was to analyze outcomes of a pulmonary rehabilitation program with respect to sex differences, in order to identify sex-specific pulmonary rehabilitation requirements.MethodsData of 233 patients (40.4% females) were analyzed before and after a three-week standardized pulmonary rehabilitation program. Patients were admitted to rehabilitation due to post-acute COVID-19 illness and staged using the COVID-19 Severity Scale by Huang et al. (2021). Lung function parameters were assessed as part of the clinical routine using spirometry (ICmax, maximal inspiratory capacity) and body plethysmography (FVC, forced vital capacity; FEV1, forced expiratory volume in the first second) and functional exercise capacity was measured by the Six-Minute Walk Test (6MWT). For the comparison of lung function and walking parameters by sex, Welch-ANOVA was used, as results of Levene's test suggested significant heteroscedasticity regarding the investigated parameters (p > 0.05). When comparing post-treatment 6MWT, FEV1 and FCV to corresponding reference values, paired t-tests were used.ResultsAt post-rehabilitation, ICmax, FVC, FEV1 and 6MWT has been improved in both sexes. Females showed a significantly smaller improvement in FEV1 and ICmax (F = 5.86, ω2 = .02; p < 0.05) than males. There was no statistically significant difference in FVC and 6MWT performance improvements between men and women. After the rehabilitation stay, females made greater progress towards reference values of 6MWT (T(231) = -3.04; p < 0.01) and FEV1 (T(231) = 2.83; p < 0.01) than males.ConclusionsSex differences in the improvement of lung function parameters seem to exist when completing a three-week pulmonary rehabilitation program and should be considered when personalizing standardized exercise therapies in pulmonary rehabilitation.Trial registrationthis study was registered in the German Clinical Trials Register (DRKS00026936) on 2021/10/19.
Very Low Incidence of HIV-infection and Decreasing Incidence of STI Among PrEP Users in 2020 After Introduction of Health Insurance Coverage in Germany
Authors: Schmidt Daniel , Kollan Christian , Bartmeyer Barbara , Bremer Viviane , Schikowski Tim , Friebe Martin , Schellberg Sven , Scholten Stefan , Bickel Markus , Hanhoff Nikola , Rüsenberg Robin , Schewe Knud 
Published: January 2022

Abstract
IntroductionObjectives of this study, as part of a nation-wide HIV pre-exposure prophylaxis (PrEP) evaluation project, were to determine the incidence and prevalence of infections with HIV, Chlamydia, Gonorrhea, Syphilis, Hepatitis A/B/C in persons using PrEP, and to describe the health care funded PrEP use in Germany. Additionally, factors associated with Chlamydia/Gonorrhea and Syphilis infections were assessed.MethodsAnonymous data of PrEP users were collected at HIV-specialty centers from 09/2019-12/2020. Incidence rates were calculated per 100 person years (py). Logistic regression was used to analyze risk factors associated with sexually transmitted infections (STIs).Results4620 PrEP users were included: 99.2% male, median age 38 years (IQR 32-45), PrEP indication 98.6% men who have sex with men (MSM). Duration of PrEP use were 5132 py; median duration 451 days (IQR 357-488).Four HIV infections were diagnosed, incidence rate 0,078/100py (95% CI 0.029-0.208). For two suboptimal adherence was reported and in the third case suboptimal adherence and resistance to emtricitabine was observed. One infection was likely acquired before PrEP start.Incidence rates were 21.6/100py for Chlamydia, 23.7/100py for Gonorrhea, 10.1/100py for Syphilis and 55.4/100py for any STI and decreased significantly. 65.5% of Syphilis, 55.6% of Chlamydia and 50.1% of Gonorrhea cases were detected by screening of asymptomatic individuals. In a multivariable analysis among MSM younger age, PrEP start before health insurance coverage and daily PrEP were associated with greater risk for Chlamydia/Gonorrhea. Symptom triggered testing and a history of STI were associated with a higher risk for Chlamydia/Gonorrhea and Syphilis.ConclusionsWe found that HIV-PrEP is almost exclusively used by MSM in Germany. A very low incidence of HIV-infection and decreasing incidence rates of STIs were found in this cohort of PrEP users. The results were likely influenced by the SARS-CoV-2 pandemic. Rollout of PrEP covered by health insurance should be continued to prevent HIV infections. Increased PrEP availability to people at risk of HIV infection through the elimination of barriers requires further attention. Investigation and monitoring with a longer follow-up would be of value.
Enhancing the radiological classification system from the distal femur to the proximal tibia
Authors: de Matteo Vincenzo , Forero Felipe , Busch Sophia Marlene , Linke Philip , Wilhelm Peter , Rademacher Kristof , Gehrke Thorsten , Citak Mustafa 
Published: January 2022

Abstract
Introduction The inner diaphyseal diameter of the distal femur, at 20 cm from the lateral joint line, is the strongest risk factor for predicting aseptic loosening in total knee arthroplasty using rotating hinge prosthesis. In this context, the Citak classification has been introduced presenting three different types of the distal femur anatomy. The aim of the study is to develop a novel classification system for the proximal tibia. Materials and Methods Two-hundred patients with standard knee antero-posterior radiographs were included in this study. We measured the inner diameter of the tibia 16 cm distally from the tibial plateau and 3 cm distally from the tibial spine. The ratio between these two measurements was applied as the novel index ratio. Results According to the 25th and 75th percentiles, three groups can be clustered for each gender. A higher distribution of the type B pattern was found in female and male patients. However, type A with a narrow inner diaphyseal diameter was less common in female patients The median intra-observer reliability for rater 1 was 0.997. The inter-observer reliability was high (ICC 0.998). There was a moderate correlation between the AP diameter and height (r = 0,568); a low correlation between the AP diameter and weight (r = 0.376). The novel index shows no significant correlation between the index ratio and height (r = 0.082), weight (r = 0.014) or BMI (r= - 0.038). The novel index shows no statistically significant correlation between the index ratio and height (r = 0.082) or weight (r = 0.014) or BMI (r= - 0.038). Conclusion The novel classification presents three different types of tibia for each gender: type C has a wider inner diaphyseal diameter compared to type A with a narrow inner diaphyseal diameter. Type B has the widest distribution among the subjects.
Heterologous expression of MiHAK14 enhances plant tolerance to K+ deficiency and salinity stresses in Arabidopsis
Authors: Zhang Yue , Lin Shizhuo , Wang Jianping , Tang Meiling , Huang Jianfeng , Gao Taiping , Zhang Hongxia , Shi Xiaomeng , Song Zhizhong 
Published: January 2022

Abstract
As one of the most abundant ions in cells, potassium (K+) is closely related to plant growth and development and contributes to plant tolerance to various abiotic stresses. However molecular mechanisms towards K+ uptake and transport are unclear in tropic fruit trees. In this study, 18 KT/HAK/KUP family genes (MiHAKs) were isolated and characterized in mango. Results showed that MiHAKs were unevenly expressed in distinct tissues and were differentially responded to K+ depletion, PEG, and NaCl stresses in roots, in which K+ depletion and PEG treatment significantly enhanced while NaCl treatment mainly reduced responsive MiHAK genes. In particular, MiHAK14 was the most abundant KT/HAK/KUP family gene in mango, especially in roots. Functional complementation in TK2420 mutant revealed that MiHAK14 could uptake external K+. Moreover, overexpression of MiHAK14 in Arabidopsis enhanced plant tolerance to K+ depletion and NaCl stresses with strengthened K+ nutritional status and ROS scavenging ability. This study provides molecular basis for further functional studies of KT/HAK/KUP transporters in tropic fruit trees, and favorably demonstrates the essentiality of K+ homeostasis in plant tolerance to abiotic stresses, including K+ deficiency and NaCl stress.