bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel Loss of Function Variant of SLC19A1 Presented with Immunodeficiency and Benefited from Folinic Acid Treatment
Authors: Unal Ekrem , GOK Veysel , Erdem Serife , Haliloglu Yesim , BISGIN Atil , Belkaya Serkan , Basaran Kemal , Ozcan Alper , Yılmaz Ebru , Acıpayam Can , KARAKUKCU Musa , Canatan Halit , Per Hüseyin , Patıroglu Türkan , Eken Ahmet 
Published: August 2022

Abstract
Insufficient dietary folate intake, hereditary malabsorption, or defects in folate metabolism may lead to combined immunodeficiency (CID). Although loss of function mutations in the major intestinal folate transporter PCFT/SLC46A1 was shown to be associated with CID, the evidence for pathogenic variants of RFC/SLC19A1 resulting in immunodeficiency was lacking. We report two cousins carrying a homozygous pathogenic variant c.1042G>A, resulting in p.G348R substitution who showed symptoms of immunodeficiency associated with defects of folate metabolism. SLC19A1 expression by peripheral blood mononuclear cells (PBMC) was quantified by real-time qPCR and immunostaining. T cell proliferation, methotrexate resistance, NK cell cytotoxicity, Treg cells and cytokine production by T cells were examined by flow cytometric assays. Patients were treated with and benefited from folinic acid (FA). Studies revealed normal NK cell cytotoxicity, Treg cell counts, and naive-memory T cell percentages. Although SLC19A1 mRNA and protein expression were unaltered, remarkably, mitogen induced-T cell proliferation was significantly reduced at sub- and supraoptimal folic acid concentrations. In addition, patients’ PBMCs were resistant to methotrexate-induced apoptosis supporting a functionally defective SLC19A1. This study presents the second pathogenic SLC19A1 variant in the literature, providing the first experimental evidence that loss of function mutations in SLC19A1 may present with symptoms of immunodeficiency.
Dynamic effect of electromagnetic induction on epileptic waveform
Authors: Sun Yuqin , Chen Yuting , Zhang Hudong , Chai Yuan 
Published: August 2022

Abstract
Background: Electromagnetic induction has recently been considered as an important factor affecting the activity of neurons. However, as an important form of intervention in epilepsy treatment, few people have linked the two, especially the related dynamic mechanisms have not been explained clearly. Methods: Considering that electromagnetic induction has some brain area dependence, we proposed a modified two-compartment cortical thalamus model and set eight different key bifurcation parameters to study the transition mechanisms of epilepsy. We compared and analyzed the application and getting rid of memristors of single-compartment and coupled models. In particular, we plotted bifurcation diagrams to analyze the dynamic mechanisms behind abundant discharge activities, which mainly involved Hopf bifurcations (HB), fold of cycle bifurcations (LPC) and torus bifurcations (TR). Results: The results show that the coupled model can trigger more discharge states due to the driving effect between compartments. Moreover, the most remarkable finding of this study is that the memristor shows two sides. On the one hand, it may reduce tonic discharges. On the other hand, it may cause new pathological states. Conclusions: The work explains the control effect of memristors on different brain regions and lays a theoretical foundation for future targeted therapy. Finally, it is hoped that our findings will provide new insights into the role of electromagnetic induction in absence seizures.
On the Use of Mega Constellation Services in Space
Authors: Capez Gabriel Maiolini , Caceres Mauricio , Bridges Christopher , Frey Stefan , Armellin Roberto , Garello Roberto , Bargellini Pier 
Published: August 2022

Abstract
Mega-constellations are being deployed to offer innovative services to Earth's users. Our work shows how they can provide seamless connectivity to LEO spacecrafts too, and transform them into highly responsive nodes of a space-to-space network characterized by high throughput, low latency, and low cost. For realizing the new mega-constellation services in space paradigm, we present a complete design of the LEO space terminal. By focusing on existing mega-constellations, we derive the service performance under realistic scenarios, and compare it with existing services like Ground Station Networks and Data Relay Systems. All the results show that the new approach can be potentially disruptive for the space ecosystem, by transforming each satellite into a 24/7 available node of a high performance space network, thus enabling a myriad of innovative applications.
Ginsenoside Rh2 attenuates myocardial ischaemia-reperfusion injury by regulating the Nrf2/HO-1/NLRP3 signalling pathway
Authors: Fan Zhixing , Yang Chaojun , li yahui , Yang jian , huang congxin 
Published: August 2022

Abstract
Background: Ginsenoside Rh2 (GRh2) is a monomer isolated from red ginseng that has extensive pharmacological effects. However, whether GRh2 has a protective effect on ischaemia/reperfusion (I/R) in the myocardium has yet to be elucidated. The present study aimed to identify the anti-inflammatory and antioxidant effects of GRh2 on I/R in the myocardium and its underlying mechanism. Methods and results: A rat model of myocardial I/R injury was constructed by ligating the left anterior descending coronary artery, which was subsequently treated with GRh2. A total of 40 male Sprague-Dawley rats were divided into the following four groups: The sham group, the I/R group, the I/R + GRh2 (10 mg/kg) group and the I/R + GRh2 (20 mg/kg) group. Neonatal rat cardiomyocytes were also used to evaluate the protective effect of GRh2 on hypoxia/reoxygenation (H/R)-induced myocardial injury in vitro. The GRh2 pre-treatment reduced the I/R- or H/R-induced release of myocardial enzymes and the production of IL-1β, IL-18 and TNF-α. GRh2 reduced the area of myocardial infarction and the histological changes in the myocardium and improved cardiac functions. In addition, GRh2 reduced the expression levels of NOD-like receptor family pyrin domain-containing 3 (NLRP3), apoptosis-associated speck-like protein, caspase-1, malondialdehyde and reactive oxygen species and increased the expression levels of nuclear factor E2-related factor 2 (Nrf2), heme oxygenase-1 (HO-1), glutathione peroxidase and superoxide dismutase. Conclusions: In conclusion, the present study confirmed that GRh2 could reduce oxidative stress and inflammation in cardiomyocytes after reperfusion, and its mechanism of action may be related to its regulation of the Nrf2/HO-1/NLRP3 signalling pathway.
The clinical influence of nasal surgery on PAP compliance and optimal application among OSA subjects uncomfortable with PAP device wear
Authors: Cha Hyunkyung , Oh Heonjeong , Han Sun-A , Kim Seo Young , Kim Jeong Kyou , Park Hae Chan , Han Doo Hee , Kim Dong-Young , Kim Hyun Jik 
Published: August 2022

Abstract
This study aimed to evaluate the alteration of PAP compliance after nasal surgery and to determine the optical indications of nasal surgery in OSA subjects. Among OSA subjects using PAP devices, 29 subjects who underwent septoturbinoplasty due to nasal obstruction were included and their pre- and postoperative medical and PAP records were reviewed retrospectively. The data showed that 55.56% (10/18 patients) of subjects in the good compliance group complained of nasal obstruction as the only barrier to using a PAP device and about 88.89% (16/18 patients) reported experiencing the efficacy of PAP usage. Both the mean and peak average PAP pressures were significantly reduced in the good compliance group following nasal surgery. The bad compliance group had multiple subjective problems that interfered with wearing a PAP device and reported a lack of experiencing the efficacy of PAP usage. Preoperative nasal cavity volume values were smaller and absolute blood eosinophil counts were significantly lower in the good compliance group. The current data demonstrate that nasal surgery might increase the compliance of PAP device wear in OSA subjects who complained of only nasal obstruction as a barrier to wearing PAP and who had small nasal cavity volumes combined with allergic inflammation.
Accumulation and release of organic pollutants by conventional and biodegradable microplastics in the marine environment
Authors: Carteny Camilla Catarci , Amato Elvio Diego , Pfeiffer Fabienne , Christia Christina , Estoppey Nicolas , Poma Giulia , Covaci Adrian , Blust Ronny 
Published: August 2022

Abstract
The issue of microplastic (MP) litter in the aquatic environment and its capability of accumulating and/or releasing pollutants has been brought to light in recent years. Biodegradable plastics have been proposed as one of the different solutions to decrease environmental input of discarded plastics; however, their ability to accumulate and release pollutants once in the marine environment has not been assessed yet. In this study, we compare the accumulation and the release of a wide range of compounds by biodegradable (polyhydroxyalkanoates (PHA) and polybutylene succinate (PBS)) and conventional (polyethylene (PE)) MPs following exposure to natural seawater for 64 days. We quantified polycyclic aromatic hydrocarbons (PAHs), polychlorinated biphenyls (PCBs), organophosphorus flame retardants (PFRs), phthalates, and alternative plasticizers in MPs, before and after exposure. Results indicated that PBS- and PHA-MPs accumulated the largest amount of PAHs and PFRs, respectively. Leaching of PFRs and plasticizers was observed for all polymers and was approximately two-fold greater for PE- when compared to PBS- and PHA-MPs. Overall, our study suggests that biodegradable MPs may release less additives and accumulate a larger amount of contaminants from seawater compared to conventional ones: these findings may have implications on the risk assessment of biodegradable polymers for marine biota; and on potential widespread adoption of these types of plastics.
Brain metastasis as the first and only metastatic relapse site portends worse survival in patients with advanced HER2+ breast cancer
Authors: Noteware Laura , Broadwater Gloria , Dalal Nicole , Alder Laura , Herndon James E. , Floyd Scott , Swearingen Amanda E. D. Van , Anders Carey K. , Sammons Sarah 
Published: August 2022

Abstract
PurposeCurrent guidelines for patients with HER2+ breast cancer brain metastases (BCBrM) diverge based on the status of extracranial disease (ECD). An in-depth understanding of the impact of ECD on outcomes in HER2+ BCBrM has never been performed. Our study explores the implications of ECD status on intracranial progression-free survival (iPFS) and overall survival (OS) after first incidence of HER2+ BCBrM and radiation.MethodsA retrospective analysis was performed of 153 patients diagnosed with initial HER2+ BCBrM who received radiation therapy to the central nervous system (CNS) at Duke between 2008 and 2020. The primary endpoint was iPFS defined as time from first CNS radiation treatment to intracranial progression or death. OS was defined as time from first CNS radiation or first metastatic disease to death. Systemic staging scans within 30 days of initial BCBrM defined ECD status. ResultsIn this cohort, >70% of patients had controlled ECD with either isolated intracranial relapse (27%) or stable/responding ECD (44%). OS from initial metastatic disease to death was markedly worse for patients with isolated intracranial relapse (median=28.4m) compared to those with progressive or stable/responding ECD (48.8m and 68.1m, respectively, p=0.0035). OS from first CNS radiation to death was significantly worse for patients with progressive ECD (17.8m) versus stable/responding (36.6m) or isolated intracranial relapse (28.4m, p=0.008). iPFS did not differ statistically.ConclusionOS in patients with HER2+ isolated BCBrM was inferior to those with concurrent progressive or stable/responding ECD. Studies investigating initiation of brain penetrable HER2-targeted therapies earlier in the disease course of isolated HER2+ intracranial relapse patients are warranted.
Role of the Maritime Continent in the remote influence of Atlantic Niño on the Pacific
Authors: Liu Siying , Chang Ping , Wan Xiuquan , Yeager Stephen , Richter Ingo 
Published: August 2022

Abstract
Atlantic Niño, a dominant mode of climate variability in the equatorial Atlantic on seasonal-to-interannual timescales, is known to remotely force a La Niña-like response in the tropical Pacific, potentially affecting climate predictions. Using both observations and large-ensemble simulations, this work explores the underlying physical mechanism linking the Atlantic variability to the Pacific. Results persuasively show that the eastward propagating atmospheric Kelvin wave from the Atlantic, through the Indian Ocean, to the Pacific is the primary pathway for the Atlantic-to-Pacific teleconnection. Furthermore, the orography and land friction effects over the Maritime Continent (MC) play an important role in this teleconnection. On one hand, the interaction between MC orography and the Kelvin wave induces orographic moisture convergence, contributing to the generation of a local Walker Cell over the MC-Western Pacific area. On the other hand, land friction over the MC causes Kelvin wave energy to dissipate, affecting the strength of the Bjerknes feedback, and thus the development of the La Niña-like response in the Pacific. The present study indicates that improving the representation of land-atmosphere-ocean interactions over the MC may be critical to realistically simulating Atlantic Niño’s impact on El Niño-Southern Oscillation. This may have important implications for improving climate predictions.
Expression and significance of MTA2 and CPNE1 in cervical cancer tissue
Authors: Wang Lixin , Chen Gang , Zhou Chen , Wu Chao , Jiang Jingui 
Published: August 2022

Abstract
Objective: To investigate the expression and clinical significance of MTA2 and CPNE1 proteins in cervical squamous cell carcinoma. Materials and Methods: In this experiment, High-risk HPV typing was performed on all cervical cancer tissues.RT-PCR and immunochemical EliVision method were used to examine the expressions of MTA2 and CPNE1 in the cervix and their relationship with clinicopathological features. Results: We found that it is mainly distributed in these types, namely 16(23.8%), 18(20.9%), 53(17.1%), 52(15.5%), 82(11.7%), 56(10.8%). The expressions of MTA2 and CPNE1 in cervical squamous cell carcinoma tissues were significantly higher than those in normal tissues, and the difference was statistically significant(P<0.01). The expressions of MTA2 and CPNE1 were correlated with FIGO stage, degree of differentiation, and lymph node metastasis of cervical cancer (P<0.05), but not with patient age (P>0.05）the rank correlation coefficient of MTA2 and CPNE1 protein expression in cervical squamous cell carcinoma was 0.668 (P<0.01), and the two expressions were positively correlated.Conclusions: MTA2 and CPNE1 are closely related to the occurrence and development of cervical squamous cell carcinoma, and may play a synergistic role in the evolution of cervical squamous cell carcinoma.
Heterogeneous circulating tumor cells correlate with responses to neoadjuvant chemotherapy and prognosis in patients with locally advanced breast cancer.
Authors: Ma Ge , Wang Jingyi , Fu Jingyue , Chen Rui , Liang Mengdi , Li Minghui , Xia Tiansong , Liu Xiaoan , Wang Shui 
Published: August 2022

Abstract
Neoadjuvant chemotherapy (NCT) is the standard treatment for patients with locally advanced breast cancer (LABC). The predictive value of heterogeneous circulating tumor cells (CTCs) in NCT response has not been determined. All patients were staged as LABC, and blood samples were collected at the time of biopsy, and after the first and eighth NCT courses. Patients were di-vided into High responders (High-R) and Low responders (Low-R) according to Miller-Payne system and changes in Ki-67 levels after NCT treatment. A novel SE-i•FISH strategy was applied to detect CTCs. Heterogeneities were successfully analyzed in patients undergoing NCT, for the first time. Total CTCs increased continuously and were higher in Low-R group; while in High-R group, CTCs increased slightly during NCT before returning to baseline levels. Triploid and tet-raploid chromosome 8 increased in Low-R but not High-R group. The number of small CTCs in Low-R group increased significantly until the last sample, however, remained constant in High-R group. The patients with more CTCs had shorter PFS and OS than those with less CTCs after the 8th course of NCT. Total CTCs following NCT could predict patients’ responses. More detailed characterizations of CTC blood profiles may improve predictive capacity and treatments of LABC.
De-identified Bayesian personal identity matching for record linkage despite errors: development and validation
Authors: Cardinal Rudolf N. , Moore Anna , Burchell Martin , Lewis Jonathan R. 
Published: August 2022

Abstract
BACKGROUND. Epidemiological research may require linkage of information from multiple organizations. This can bring two problems: (1) the information governance desirability of linkage without sharing direct identifiers, and (2) a requirement to link databases without a common person-unique identifier. METHODS. We develop a Bayesian matching technique to solve both. We provide an open-source software implementation capable of de-identified probabilistic matching despite discrepancies, via fuzzy representations and complete mismatches, plus de-identified deterministic matching if required. We validate the technique by testing linkage between multiple medical records systems in a UK National Health Service Trust, examining the effects of decision thresholds on linkage accuracy. We report demographic factors associated with correct linkage. RESULTS. The system supports dates of birth (DOBs), forenames, surnames, three-state gender, and UK postcodes. Fuzzy representations are supported for all except gender, and there is support for additional transformations, such as accent misrepresentation, variation for multi-part surnames, and name re-ordering. Calculated log odds predicted a proband’s presence in the sample database with an area under the receiver operating curve of 0.997–0.999 for non-self database comparisons. Log odds were converted to a decision via a consideration threshold θ and a leader advantage threshold δ. Defaults were chosen to penalize misidentification 20-fold more than linkage failure. By default, complete DOB mismatches were disallowed for computational efficiency. At these settings, for non-self database comparisons, the mean probability of a proband being correctly declared to be in the sample was 0.965 (range 0.931–0.994), and the misidentification rate was 0.00249 (range 0.00159–0.00429). Correct linkage was positively associated with male gender, Black or mixed ethnicity, and the presence of diagnostic codes for severe mental illnesses or other mental disorders, and negatively associated with birth year, unknown ethnicity, residential area deprivation, and presence of a pseudopostcode (e.g. indicating homelessness). Accuracy rates would be improved further if person-unique identifiers were also used, as supported by the software. Our two largest databases were linked in 44 min via an interpreted programming language. CONCLUSIONS. Fully de-identified matching with high accuracy is feasible without a person-unique identifier and appropriate software is freely available.
Role of occupation on hypertension among women in Bangladesh
Authors: Islam Md. Kawsarul , Rabbi Ahbab Mohammad Fazle , Haque M. Ershadul , Shabuz Zillur Rahman 
Published: August 2022

Abstract
Background: Hypertension is a major non-communicable disease all over the world. This study determines the role of occupation along with other potential covariates on hypertension for Bangladeshi women.Methods: The analysis had been used the data from Bangladesh demographic and health survey 2017-18. Univariate and bivariate analyses were performed to check patterns and correlates of hypertension. To explore the influence of demographic, socioeconomic, and biological factors affecting hypertension, binary logistic regression models were used.Results: The prevalence of hypertension among non-working women was 30.31%. The role of occupation on hypertension was significant in both the unadjusted and adjusted models. Women who were not working during the survey were 1.176 times more likely to have hypertension than physically working women while controlling for other variables. In Bangladesh, after controlling the effect of occupation other significant risk factors for hypertension were age, BMI, marital status, education, and region.Conclusion: Occupation is an essential subject for our life and livelihood. Since physically active women were less likely to be hypertensive than non-working women, occupation could be utilized as a significant tool to prevent hypertension.
Analytical modeling and simulation of lattice-matched Ferro PZT AlGaN/GaN MOSHEMT for high-power and RF/Microwave applications
Authors: Khan Abdul Naim , Mishra S. N. , Routray S. , Chatterjee Gaurav , Jena K. 
Published: August 2022

Abstract
In this paper we have developed an analytical model for Ferro PZT Al2O3/AlGaN/AlN/GaN MOSHEMT involving the solution of Poisson and Schrodinger equations. This analytical model covers most of the operating¨ regimes of the Ferro PZT MOSHEMT. The two-dimensional electron gas (2-DEG) sheet charge density (ns), threshold voltage (Vth), drain current (Ids), gate capacitance (Cgs and Cgd), and unit gain cut-off frequency(fT) model equations are generated and simulated with MATLAB tool. It is also observed that the insertion of the Ferro Pb(Zr, Ti)O3 PZT (lead zirconium titanate) material can also improve the device performance. The proposed Ferro PZT MOSHEMT model accurately produces a higher drain current of 1.14A/mm, a high transconductance of 362S/mm, the gate-to-source capacitance of 50.99pF, the gate-to-drain capacitance of 38.25pF, and high cut-off frequency of 0.033THz for 20nm AlGaN barrier layer. The proposed model results show good agreement with the TCAD-Atlas simulation results and were satisfactory for the different AlGaN barrier layer thickness. The generated model and simulation results show the potential of using the Ferro PZT MOSHEMT for high-power and RF/Microwave applications.