bluuebunny/crossref_metadata_2025_split huggingface dataset:
Newborn Screening for SCID: The very first prospective pilot study from Turkey
Authors: Ikinciogullari Aydan , Kocak Senem , Tufan Lale Satiroglu , Haskologlu Sule , Aksoy Fethiye Eken , Bastug Dilan , Oner Deniz Aslar , Acican Deniz , Ceylaner Serdar , Guner Sukru Nail , Keles Sevgi , Cagdas Deniz , Reisli Ismail , Tezel Basak , Dogu Figen , Tezcan Ilhan 
Published: March 2022

Abstract
Purpose: The measurement of T-cell receptor excision circle (TREC) is being used in newborn screening (NBS) for severe combined immunodeficiency (SCID). Here, we report the results of newborn screening pilot program for SCID conducted in Turkey.Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health (Public Health General Directorate and Pediatric and Adolescent Health Department). TREC measurements were performed in randomly selected Guthrie card samples obtained from 20.253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (β-Actin) via RT-PCR (Real Time Polymerase Chain Reaction) Results: TREC copy numbers found normal in 98.6% of the newborns (n: 19.975) at the initial analyses. Two among 10 babies who had undetectable TREC copies diagnosed as SCID; ADA and RAG1 defects confirmed respectively in the first (NB1/P1) and the second (NB2/P2) baby. They both received curative treatments (gene therapy and HSCT) free from live vaccines and life-threatening infections occurred. The remaining 6 of 8 newborns who had low (< 46 copies/DBS and <15 copies/µl) TREC copy numbers found normal following clinical and laboratory work-up while medical records related to other two reveled early postnatal death due to extreme prematurity. Conclusion: In the light of this study the incidence of SCID was detected at least 1/10.000 live births in Turkey. Finally, it is quite clear that SCID should be included as early as possible into the national NBS program in Turkey.
Oleic acid based experimental evolution of Bacillus megaterium yielding an enhanced P450 BM3 variant
Authors: Vincent Thierry , Gaillet Bruno , Garnier Alain 
Published: March 2022

Abstract
Background
Unlike most other P450 cytochrome monooxygenases, CYP102A1 from Bacillus megaterium (BM3) is both soluble and fused to its redox partner forming a single polypeptide chain. Like other monooxygenases, it can catalyze the insertion of oxygen unto the carbon-hydrogen bond which can result in a wide variety of commercially relevant products for pharmaceutical and fine chemical industries. However, the instability of the enzyme holds back the implementation of a BM3-based biocatalytic industrial processes due to the important enzyme cost it would prompt.
Results
In this work, we sought to enhance BM3’s total specific product output by using experimental evolution, an approach not yet reported to improve this enzyme. By exploiting B. megaterium’s own oleic acid metabolism, we pressed the evolution of a new variant of BM3, harbouring 34 new amino acid substitutions. The resulting variant, dubbed DE, increased the conversion of the substrate 10-pNCA to its product p-nitrophenolate 1.23 and 1.76-fold when using respectively NADPH or NADH as a cofactor, compared to wild type BM3.
Conclusions
This new DE variant, showed increased organic cosolvent tolerance, increased product output and increased versatility in the use of either nicotinamide cofactors NADPH and NADH. Experimental evolution can be used to evolve or to create libraries of evolved BM3 variants with increased productivity and cosolvent tolerance. Such libraries could in turn be used in bioinformatics to further evolve BM3 more precisely. The experimental evolution results also supports the hypothesis which surmises that one of the roles of BM3 in Bacillus megaterium is to protect it from exogenous unsaturated fatty acids by breaking them down.
A Short-circuit Model Based on Artificial Neural Network and Artificial Bee Colony Algorithm for SiC MOSFETs
Authors: Zhang Wanqin , Deng Wanling , Xiong XiaoMing , Liu Yuan 
Published: March 2022

Abstract
A short-circuit model for silicon carbide (SiC) metal-oxide semiconductor field effect transistors (MOSFETs) using hybrid modeling method based on artificial neural network (ANN) and improved artificial bee colony (ABC) algorithm is proposed in this paper. In order to improve the search ability of the ABC, particle swarm optimization (PSO) is introduced to the scout bees’search strategy. The improved ABC is employed to find suitable initial parameters for ANN model, which can improve the accuracy of modeling results. Based on hybrid modeling method, the normal working model of SiC MOSFETs is established first. The modeling results of I−V characteristics, C−V characteristics and small signal parameters (gm, gd, etc.) are in good agreement with datasheet, which fully demonstrates the validity of the normal working model. Then the short-circuit model of SiC MOSFETs is further obtained based on the relationship between short-circuit current and junction temperature and normal working model. Eventually, the proposed short-circuit model is verified by device- and circuit-level tests. With its precision and simplicity, the proposed short-circuit model can be used to analyze short-circuit faults in SiC MOSFET simulation circuits and provide assistance for the design of protection circuits.
Antibody-Positive Neuromyelitis Optica Spectrum Disorder After Second COVID-19 Vaccination: A Case Report.
Authors: Kuntz Stephanie , Saab Georges , Schneider Raphael 
Published: March 2022

Abstract
Background: We report a case of de novo aquaporin-4 positive neuromyelitis optica spectrum disorder following BNT162b SARS-CoV-2 vaccination.Case Presentation: An 80-year-old South Asian man presented two days following his second dose of the Pfizer-BioNTech COVID-19 mRNA BNT162b2 vaccine with progressive left-sided leg weakness and numbness resulting in falls. MRI of the spine revealed a longitudinally extensive transverse myelitis from T3-T4 to T9-T10. Serum antibody testing revealed positive aquaporin-4 (AQP4) antibodies. He was diagnosed with de novo AQP4 positive neuromyelitis optica spectrum disorder (NMOSD) and was treated with high dose intravenous methylprednisolone and plasma exchange with some improvement. He was subsequently treated with mycophenolate mofetil and a slow steroid wean.Conclusions: Evidence suggests vaccinations may trigger de novo NMOSD or NMOSD relapses in some individuals. Ongoing vaccine surveillance and research are needed to understand the risk of NMOSD post-COVID-19 vaccinations further.
The histidine-brace active site of a copper monooxygenase is redox active and forms part of an in-built enzyme repair mechanism
Authors: Zhao Jingming , Zhuo Ying , Diaz Daniel , Shanmugam Muralidharan , Telfer Abbey , Lindley Peter , Kracher Daniel , Hayashi Takahiro , Seibt Lisa , Hardy Florence , Manners Oliver , Hendison Tobias , Hollywood Katherine , Diaz-Moreno Sofia , Scrutton Nigel , Tovborg Morten , Davies Gideon , Walton Paul , Heyes Derren , Green Anthony 
Published: March 2022

Abstract
Oxygenase enzymes generate reactive intermediates at their active sites to effect controlled functionalizations of inert C–H bonds in substrates, such as in the enzymatic conversion of methane to methanol. To be viable catalysts, however, these enzymes must also prevent oxidative damage to essential active site residues, which can occur during turnover in the absence of substrate. Herein we use a combination of stopped-flow spectroscopy, targeted mutagenesis, DFT calculations, high-energy resolution fluorescence detection X-ray absorption spectroscopy (HERFD-XAS), and electron paramagnetic resonance spectroscopy (EPR) to capture two transient intermediates that together form a protective pathway built into the active sites of copper-dependent lytic polysaccharide monooxygenases (LPMOs). First, a spin singlet (S = 0) CuII-(histidyl radical) is generated at the histidine brace active site following treatment of the LPMO with either hydrogen peroxide or peroxyacids in the absence of substrate. This intermediate reacts with a nearby tyrosine residue in an intersystem-crossing reaction to give a ferromagnetically coupled (S = 1) CuII-tyrosyl radical pair, thereby restoring the histidine and the histidine brace active site to its resting state to facilitate resumption of the catalytic cycle through reduction. This process gives the enzyme the capacity to repair any damage to the active site histidine residues ‘on the fly’, highlighting how enzymes protect themselves from deleterious side reactions during uncoupled turnover.
Effects of Microplastic Combined with Cr(Ⅲ) on Apoptosis and Energy Pathway of Coral Endosymbiont
Authors: Li Chengyong , Xiao Baohua , Li Dongdong , Liao Baolin , Zheng Huina , Yang Xiaodong , Xie Yongqi , Xie Ziqiang 
Published: March 2022

Abstract
The combined effect of polyethylene (PE) microplastic and chromium (Cr(III)) was investigated on scleractinian coral Acropora pruinosa (A. pruinosa). The endpoints analyzed in this study included the density of endosymbiont, chlorophyll a + c content, activity of enzymes involved in apoptosis (caspase-1; caspase-3), glycolysis (lactate dehydrogenase, LDH), pentose phosphate pathway (glucose-6-phosphate dehydrogenase, G6PDH) and electron transfer coenzyme (nicotinamide adenine dinucleotide, NAD+/NADH). During the 7-day exposure to PE and Cr(III) stress, the density of endosymbiont and the chlorophyll content were decreased gradually. Caspase-1 and-3 activities were increased in the high concentration Cr(III) exposure group. Furthermore, the LDH and G6PDH activities were decreased significantly, and the ratio of NAD+/NADH was decreased significantly. In summary, the results showed that PE and Cr(III) stress had inhibited the energy metabolism enzymes of A. pruinosa, and further led to the apoptosis of endosymbiont in coral. In addition, the combination of stressors exposure revealed as the concentration of Cr(III) keep at 10 µg/L, the toxic effects of heavy metals on endosymbiont was temporarily relieved with elevated PE In contrary, coral polyps were kept under the concentration of PE at 5 mg/L and increasing Cr(III), the metabolic activities of corals were seriously disturbed, which was increased the burden of energy consumption. In the short term, the deleterious effects of Cr(III) is more obvious due to it led to the apoptosis of endosymbiont and its irreversible damage. It is the first time to give insights into the combined effect of microplastic and Cr(III) stress on the apoptosis and energy pathway of coral endosymbiont. The results suggest that microplastic combined with Cr(III)contamination is an important factor affecting apoptosis and energy metabolism of coral A. pruinosa.
Abamectin and Difenoconazole Monitoring in Strawberry Flowers and Pollen Sampled from Tetragonisca Angustula (Latreille) (Hymenoptera: Apidae) Hives Located in Crop Vicinities
Authors: Burgarelli José Augusto Michelleti , Santos Dayana Moscardi dos , Prado Fernanda Scavassa Ribeiro do , Rabelo Waleria Ferreira , Sardeli Rafael , Brigante Janete , Daam Michiel Adriaan , Vieira Eny Maria 
Published: March 2022

Abstract
The increase of agricultural productivity associated with the emergence and the extensive use of agrochemicals is undeniable. However, the harmful effects, were laid aside in the first moment. Strong evidence indicates that the rising use of agrochemicals is one of the factors associated with the decreasing of pollinating insects, such as bees. The present work aims the determination of the insecticide abamectin (ABA) and the fungicide difenoconazole (DIF) in strawberry flowers (Fragaria x ananassa DUCH.) and pollen sampled from beehives of the stingless bee Tetragonisca angustula Latreille (Hymenoptera: Apidae) located nearby strawberry fields. For analysis, QuEChERS method was optimized, and analytical performance and determination of the two agrochemicals were verified using LC-MS/MS considering validation parameters as linearity (0.5 to 1500 µgL− 1), precision (> 80%), and accuracy (< 20). Thus, the method was applied in flowers and pollen sampled from field samples from three campaigns. While abamectin was not detected, the systemic fungicide difenoconazole was detected in almost all flowers and pollen samples. The results were then discussed mainly according to difenoconazole application and transport to colonies to estimate a preliminary environmental risk assessment considering exposure rates and toxicity data from the literature.
MDP Induces the Senescence of Activated Hepatic Stellate Cells Through Regulating Ago2/miR-708/ZEB1/p53 Pathway
Authors: Yang Junfa , Fang Hui , Mei Dan , Wang Han , Yu Qianqian , Zhang Xianzheng , Sun Wuyi , Wang Hua , Wei Wei , Zhang Lingling 
Published: March 2022

Abstract
Background
Extracellular matrix (ECM) is mainly derived from activated hepatic stellate cells (HSC), and its excessive deposition is one of the characteristics of liver fibrosis. Accumulating evidence indicated that the senescence of activated HSCs limits liver fibrosis. Monomer derivative of paeoniflorin (MDP), a derivative of paeoniflorin, inhibits inflammatory responses. However, the role and fundamental mechanism of MDP in liver fibrosis was still unclear.
Results
We demonstrated that MDP inhibited the progression of liver fibrosis in vivo and in vitro, concomitant with the elevated expression of Ago2, miR-708 and p53 as well as the downregulated expression of ZEB1. Mechanistic investigations revealed that MDP could combined with Ago2, thus promoting the expression of miR-708. Upregulation of miR-708 and p53 and downregulation of ZEB1 increased the number of SA-β-Gal-positive HSCs and the expression levels of p16 and p21 as well as decreased the expression of α-SMA and Col. I in activated HSCs. Meanwhile, further studies revealed that miR-708 directly targeted ZEB1, thus inhibiting the mRNA of ZEB1. More importantly, ZEB1 could bind to the E-box of p53 promoter and restrain its promoter activity as well as thus block the expression of p53.
Conclusion
MDP could induce senescence of activated HSCs via regulating Ago2/miR-708/ZEB1/p53 aixs and may be applied to treat liver fibrosis.
The Reconstruction of Paleoenvironmental Changes by Using δ13C,14C Dating and Rb/Sr Ratio in Critical Karst Area of Yunnan–Guizhou Plateau, Southwestern China
Authors: BECKFORD Howard Omar , CHANG Cheng , JI Hongbing 
Published: March 2022

Abstract
Paleosols preserve archives of vegetation history, environmental changes and sedimentary systems. The changes in vegetation history and environmental condition in karst area of Yunnan–Guizhou Plateau, Southwestern China since late Pleistocene were analyzed using δ13C, 14C and Rb/Sr ratio. Our δ13C results revealed coexistence of C3 and C4 plants (-10.91 to -30.45‰) in soil organic matter that were consistent with present field vegetation assessment. The large vertical difference in δ13C value (> 4‰) were related to cultivation of agriculture crops and change in environmental conditions. Furthermore, the variation δ13C values were influenced by Indian Ocean and East Asian summer monsoon climate. Equally mixed proportion of C3 and C4 plants were quite sensitive to environmental change and should be used in further research to correlate climatic change and vegetation dynamics. We found that TOC concentration decreased exponentially with soil depth which indicate high carbon loss in the region. In addition, the 14C apparent age of the profiles range from modern to 20,605 (± 63) a BP and positively correlated with soil depth. The combined results indicate that since the late Pleistocene, the environmental condition in the study area has changed intermittently on the millennium scale from hot–humid to cold–dry conditions. We speculated that there may have been extreme climate events in the study area during 14,750 a BP which marked by drastic change in δ13C and Rb/Sr ratio. Combination of δ13C, 14C dating and Rb/Sr ratio can be used for reconstructing the environmental changes during the Pleistocene period in karst environment.
Effects of exercise interventions on cancer-related fatigue in breast cancer patients: An overview of systematic reviews
Authors: Zhou Hong-Juan , Wang Tao , Xu Yong-Zhi , Chen Yan-Nan , Deng Li-Jing , Wang Chang , Chen Jin-Xiu , Tan Jing-Yu (Benjamin) 
Published: March 2022

Abstract
Objective This overview of systematic reviews (OoSRs) aims to critically appraise and consolidate evidence from current systematic reviews (SRs)/meta-analyses on the effects of exercise interventions on cancer-related fatigue (CRF) in breast cancer patients. Methods SRs/meta-analyses that focused on exercise intervention for CRF in breast cancer and relevant grey literature were searched in electronic databases, through September 2021. Methodological quality of the included SRs was appraised using A MeaSurement Tool to Assess systematic Reviews II (AMSTAR II). The Grading of Recommendations Assessment, Development and Evaluation (GRADE) was used to calculate the grading of outcomes in the included SRs. Stata 16.0 software was utilized for data analysis.Results Twenty-nine reviews were located. The overall methodological quality was unsatisfactory, with only three reviews rated as high quality. The evidence quality was generally low, with no high-quality SRs identified via the GRADE. Moderate certainty evidence indicating exercise could improve fatigue in breast cancer patients (SMD=-0.40 [95%CI -0.58, -0.22]; P=0.0001). Subgroup analysis based on the types of exercise showed that yoga (SMD=-0.30 [95%CI -0.56, -0.05]; I2=28.7%) and aerobic exercise (SMD=-0.29 [95%CI -0.56, -0.02]; I2=16%) had a significantly better effect on CRF in breast cancer patients; exercising for over six months (SMD=-0.88 [95%CI -1.59, -0.17]; I²=42.7%; P=0.0001), three times per week (SMD= -0.77 [95%CI -1.04, -0.05]; I²= 0%; P=0.0001), and for 30 to 60 minutes per session (SMD=-0.81 [95%CI -1.15, -0.47];I²=42.3%; P=0.0001) can contribute to a moderate improvement of CRF. Supervised exercise (SMD=-0.48 [95%CI -0.77, -0.18]; I²=87%; P=0.001) was shown to relieve CRF.Conclusion Exercise played a favorable role in alleviating CRF in breast cancer. Yoga was recommended as a promising exercise for CRF management in majority of the included studies. Exercising for at least three times per week with 30 to 60 minutes per session could be recommended as a suitable dosage for achieving improvement in CRF. Supervised exercise was found to be more effective in alleviating CRF than unsupervised exercise. More rigorously designed clinical studies are warranted to generate more robust evidence to support the use of exercise interventions for CRF management in breast cancer patients.PROSPERO registration of the study protocol: CRD42020219866
Seismic Failure Behaviour of Masonry Domes Under Strong Ground Motions
Authors: Bayraktar Alemdar , Hökelekli Emin 
Published: March 2022

Abstract
General stability and failure behaviours of masonry domes under static loads have been detailly searched in literature. However, researchers have devoted little attention to their seismic failure behaviours under strong ground motions. This study aims a better understanding of seismic failure behaviours of masonry domes with support system including drum and buttresses using advanced 3D nonlinear numerical simulations under strong ground motions. Four types of masonry domes built on historical structures are selected such as a dome with circle drum, a dome with circle drum and buttress, a dome with octagonal drum, a dome with octagonal drum and buttress. The three-dimensional solid and finite element models of the selected masonry domes are created using isotropic continuum macro modelling technique with homogenized properties. Concrete Damage Plasticity (CDP) model is chosen for masonry material behaviour. Three different strong ground motion acceleration records of 1999 Düzce (M = 7.14), 1992 Erzincan (M = 6.69) and 1999 Kocaeli (M = 7.51) earthquakes are selected and matched to the target response spectrum with return period of 475 years in TBEC (2019) using the wavelet algorithm. Static and seismic failure behaviours of the four masonry spherical dome models subjected to the matched strong ground motion records are compared and evaluated using maximum principal stresses, damage propagation patterns and failure angles. Failure behaviour angles under strong ground motions are proposed for spherical masonry domes with support systems and thickness-to-span ratios t/R = 0.092.
Impacts of Environmental Flow Regulation on Survival of Aquatic Organisms: A Case Study of Cyprinus Carpio in Baiyangdian, China
Authors: Ma Yifei , You Xue-yi 
Published: March 2022

Abstract
Decreasing water volume and increasing pollutants in wetlands pose challenges to aquatic life. Environmental flow regulation is a widely used to improve the living environment of aquatic organisms, but it’s effectiveness needs to be evaluated. In this study, the hydrodynamic and water quality models are used to simulate the fields of flow, temperature and pollutants and the Ecological Niche Modelling at the MetaLand EcologyLab (ENMTML) is utilized to evaluate the area of suitable habitats of aquatic organisms in the cases of environmental flow regulation and no environmental flow regulation conditions. The typical wetland of Baiyangdian in northern China is selected as the studied area and the important economic fish Cyprinus carpio is select as the indicator aquatic species to show the effectiveness of environmental flow regulation. The study period is from December 1, 2017 to July 1, 2018. The results indicate that for Cyprinus carpio in Baiyangdian Wetland, the variables of water depth, dissolved oxygen (DO), ammonia nitrogen (NH4+-N) and Chlorophyll a (Chla) are the major environmental factors which determines the variability of suitable habitat extent. The environmental flow regulation amount for the Baiyangdian Wetland is 2.6 \(\times\) 108 m3, which produces a suitable breeding habitat area of 135.532 km2 at the end of the water supply period. Comparing with no environmental flow regulation case, the suitable habitats areas is enlarged by 56.29 and 31.83 km2 of the highly and moderately suitable habitats for Cyprinus carpio, respectively. The outcomes of this study provide not only a basic reference for wetland management, but also a scientific perspective understanding of the environmental flow regulation on aquatic organisms. The proposed method combining MIKE 21 model with the ENMTML package is shown to have the potential to evaluate the effectiveness of environmental flow regulation in wetlands.
Association of interleukin-6 gene polymorphism with susceptibility, neurological deficit and recurrence risk of cerebral infarction
Authors: Yang Gui-Xin , Chen Hai-Yan , Yun Yan-Fang , Jiang Yong-Ming , Pan Yao-Xin , Yuan Sheng-Shan , Huang Jian-Jun , Su Li , Wu Ying-Ning , Lu Dong , Huang Jian-Min , Li Xue-Bin 
Published: March 2022

Abstract
Aim: Our research was to explore if the single nucleotide polymorphism (SNP) of IL-6 was related to the susceptibility, severity of neurological deficit and the recurrence risk of cerebral infarction. Methods: An overall 382 cerebral infarction sufferers and 385 healthy controls were selected for IL-6 gene promotor region-174G /C, -572C/G, -597G/A polymorphism by SNaPshot SNP typing. The National Institute of Health Stroke Scale (NIHSS) and Essen stroke risk score (ESRS) were adopted to evaluate the neurological deficit and stroke relapse risk in cerebral infarction sufferers. Results: The rs1800796 polymorphism of the IL-6 gene showed a significant correlation with CI, and its GG genotype increased the risk of CI (CG+GG vs CC, P=0. 019).The dominant model of rs1800796 was related to severity of neurological deficit and the recurrence risk of cerebral infarction (CG+GG vs CC. P =0. 048 and P= 0. 019) . No association was observed between rs1800795/rs1800797 and CI. Conclusion: IL-6 genetic polymorphism serves as a potential biomarker to determine the susceptibility of cerebral infarction, neurological deficit and the risk of stroke recurrence.