bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polygenic scores stratify ND-CNV carrier cognitive outcomes in the UK Biobank
Authors: Dinneen Thomas , Ghrálaigh Fiana Ní , Ormond Cathal , Heron Elizabeth , Kirov George , Lopez Lorna , Gallagher Louise 
Published: January 2024

Abstract

Carriers of rare copy-number variants associated with neurodevelopmental conditions (ND-CNVs) show variable expressivity of clinical, physical, behavioural phenotypes. Findings from clinically-ascertained cohorts indicate that this may in part be explained by additional genetic variation associated with neurodevelopmental conditions. Here, the effects of additional genetic variants on ND-CNV carrier fluid intelligence (FI) scores in the UK Biobank were assessed. Polygenic scores (PGS) for cognition (PSCog), educational attainment (PSEA), and autism (PSASD) were generated using genome-wide imputation data to investigate additional common genetic variants (MAF >1%). Similarly, rare variants (MAF ≤1%) in loci associated with intellectual disability, autism, or intolerant to loss-of-function, brain expressed loci were investigated. Increased PSCog is associated with increased FI scores in all ND-CNVs (n = 1,274; P=4.92x10-7), 15q11.2 del. (n = 514; P=1.8x10-5), and 16p13.11 dup. carriers (n = 258; P=0.044). Similarly, greater PSEA is associated with increased FI scores in all ND-CNV carriers (P = 0.022), but not in the subgroups of specific ND-CNV loci. Additionally, we tested the positive predictive value of PScog and PSEA in ND-CNV carriers. Comparing the first and tenth deciles of PScog and PSEA, 13% versus 2% and 11% versus 2% of ND-CNV carriers were correctly identified with low FI scores. Furthermore, ND-CNVs in the first decile of PSCog showed a two- to five-fold increase in probability for a low FI score compared to the baseline pre-test probability. We do not observe any association of rare additional genetic variants in loci associated with intellectual disability, autism, or intolerant to loss-of-function, brain expressed loci with FI scores in ND-CNV carriers. These findings demonstrate that PGS contribute to and can stratify ND-CNV carrier cognitive outcomes in a population-based cohort.
Beyond endocrine resistance: estrogen receptor (ESR1) activating mutations mediate chemotherapy resistance through the JNK/c-Jun MDR1 pathway in breast cancer
Authors: Taya Marwa , Merenbakh-Lamin Keren , Zubkov Asia , Honig Zohar , Kurolap Alina , Mayer Ori , Shomron Noam , Wolf Ido , Rubinek Tami 
Published: January 2024

Abstract
Purpose
All patients with metastatic breast cancer (MBC) expressing estrogen receptor-α (ESR1) will eventually develop resistance to endocrine therapies. In up to 40% of patients, this resistance is caused by activating mutations in the ligand-binding domain (LBD) of ESR1. Accumulating clinical evidence indicate adverse outcomes for these patients, beyond that expected by resistance to endocrine therapy. We hypothesized that ESR1 mutations may also confer resistance to chemotherapy.
Experimental Design:
MCF-7 cells harboring Y537S and D538G ESR1 mutations (mut-ER) were employed to study response to chemotherapy using viability and apoptotic assay in vitro, and tumor growth in vivo. JNK/c-Jun/MDR1 pathway was studied using qRT-PCR, western-blot, gene-reporter and ChIP assays. MDR1 expression was analyzed in clinical samples using IHC.
Results
Cell harboring ESR1 mutations displayed relative chemoresistance, evidenced by higher viability and reduced apoptosis as well as resistance to paclitaxel in vivo. To elucidate the underlying mechanism, MDR1 expression was examined and elevated levels were observed in mut-ER cells, and in clinical BC samples. MDR1 is regulated by the JNK/c-Jun pathway, and indeed, we detected higher JNK/c-Jun expression and activity in mut-ER cells, as well as increased occupancy of c-Jun in MDR1 promoter. Importantly, JNK inhibition decreased MDR1 expression, particularly of D538G-cells, and reduced viability in response to chemotherapy.
Conclusions
Taken together, these data indicate that ESR1 mutations confer chemoresistance in BC through activation of the JNK/MDR1 axis. Targeting this pathway may restore sensitivity to chemotherapy and serve as a novel treatment strategy for MBC patients carrying ESR1 mutations.
Can green infrastructure investment influence low-carbon urbanization: Empirical evidence from China
Authors: Feihu Yang , Xing Huang , Yating Li 
Published: January 2024

Abstract
Promoting new urbanization based on the concept of green development is an essential path and inherent requirement for China's modernization, and the impact of green infrastructure investment on low-carbon urbanization development urgently needs to be explored. This article, based on panel data from 203 prefecture-level cities and above in China from 2010 to 2020, employs a two-way fixed effects model to investigate the impact of green infrastructure investment on enhancing low-carbon urbanization development and its potential channels. The study finds that: (1) Investment in green infrastructure significantly promotes the development of low-carbon urbanization, a result that remains robust after a series of tests. (2) The impact of green infrastructure investment on low-carbon urbanization development varies across cities with different geographical locations, sizes, and resource endowments. The role of green infrastructure investment is more pronounced in promoting low-carbon urbanization in eastern cities, medium-sized cities, and non-resource-based cities, while its impact is relatively weaker in central and western cities, large and small cities, and resource-based cities. (3) Mechanism analysis indicates that green infrastructure investment promotes low-carbon urbanization development by enhancing total factor energy efficiency and facilitating industrial structure upgrading.
Correlation Between Maternal Factors and Birth Weight of Newborns in Uganda
Authors: Natukunda Pheobe , Kadubira Eriot , Nzabona Abel 
Published: January 2024

Abstract

Background
Birth weight is an important determinant of infant's well-being. It is an indicator of both short and long term health consequences. Infants born with low weight are more than 100 times more likely to die in the first year of life than infants of normal birth weight. Neonatal death among infants weighing 1500–2500 grams is 20 times higher than among infants of normal weight.
Method
The study used 2016 Uganda Demographic and Health Survey data. It focused on mothers with recorded birth weight from either written records or through a mother’s recall forming a sample size of 7,101 mothers. Generalized structural equation modeling was used to measure the direct and indirect relationships between maternal factors and birth weight of newborns.
Results
The results indicated that the prevalence of low birth weight was 9 percent and mean birth weight of 3,345g. Belonging to the rich wealth index reduced odds of giving birth to babies with low birth weight compared to the poor wealth index (OR = 0.7, p = 0.001). A mother who had at least 4 antenatal visits had reduced odds of having a baby with low birth weight (OR = 0.7, p = 0.001). Mothers with higher level education, occupation categories of sales and services were indirect predictors of birth weight through antenatal care (p = 0.016, p = 0.012 and p = 0.039 respectively). Therefore, more antenatal care centers need to be established, advocacy for prenatal care needs to be intensified to enroll all expectant mothers. Urgently, interventions targeted on empowering mothers economically need to be established.
Intracellular CIRP promotes liver regeneration while extracellular CIRP induces ER stress after partial hepatectomy in mice
Authors: Wang Tao , Wang Mengzhou , Liu Wuming , Zhang Lin , Zhang Jia , Bi Jianbin , Zhao Junzhou , Wu Zheng , Lv Yi , Wu Rongqian 
Published: January 2024

Abstract
Background
Cold-inducible RNA-binding protein (CIRP) is a cold shock protein implicated in the regulation of multiple biological processes depending on its cellular localization. However, its role in liver regeneration and injury after hepatectomy has not been investigated. This study was therefore designed to explore whether CIRP was involved in liver regeneration after hepatectomy and its specific role and underlying molecular mechanism.
Methods
Male adult mice were subjected to two-thirds partial hepatectomy. Hepatic and serum levels of CIRP were measured after hepatectomy. The overall involvement of CIRP in liver regeneration and injury after hepatectomy was evaluated in CIRP-deficient mice. C23, an antagonist of extracellular CIRP, was used to assess the effect of extracellular CIRP on liver regeneration and injury after hepatectomy. CIRP overexpression and shRNA plasmids were transfected to HepG2 cells to study the effect of intracellular CIRP on cell proliferation. The effect of extracellular CIRP on cell proliferation and injury was determined using recombinant CIRP protein to stimulate HepG2 cells in vitro.
Results
Both hepatic and serum CIRP levels were significantly increased after partial hepatectomy. CIRP deficiency impaired liver regeneration, while alleviated liver injury after partial hepatectomy in mice. C23 administration attenuated liver injury, suppressed ER stress and oxidative stress. However, it had no effects on liver regeneration after partial hepatectomy. Loss- and gain-of-function analyses in hepG2 cells indicated that upregulation of intracellular CIRP promoted cell proliferation via activation of the STAT3 signaling pathway. On the other hand, recombinant CIRP had no effects on cell proliferation and STAT3 phosphorylation, but induced ER stress via a TLR4-dependent pathway in hepG2 cells.
Conclusion
Taken together, our results demonstrated that intracellular CIRP promotes liver regeneration by activating the STAT3 pathway, while extracellular CIRP induces ER stress via interacting with TLR4 after hepatectomy.
WITHDRAWN: Structural analysis, molecular dynamics simulation and thermodynamic modification of the antifreeze protein type IV mutant under subfreezing temperatures
Authors: Eskandari Azadeh , Leow Thean Chor , Rahman Mohd Basyaruddin Abdul , Salleh Abu Bakar , Khanlarkhani Ali , Lim Wui Zhuan , Oslan Siti Nurbaya 
Published: January 2024

Abstract

Antifreeze proteins (AFPs) are expressed by numerous organisms for their survivability in polar regions due to their special functions; ice recrystallization inhibition (IRI) and thermal hysteresis (TH). Nevertheless, the inherent employment of AFPs proves to be an expensive and difficult process because of their limited effectiveness. Hence, a newly designed AFP with enhanced efficiency becomes essential to meet the needs of industries and the healthcare sector. In this study initially, the modified helix afp1m from yeast (Glaciozyma antarctica) was incorporated into the multi-helices of AFPIV with a new linker to boost the stability of the newly designed AFPIV (AFP1m3). To examine the physical and chemical qualities as well as the structural attributes various tools including ExPASy Prot-Param, Pep-Wheel, SWISS-MODEL, and Phyre2 were employed. Ultimately, the assessment and evaluation of the models as well as the exploration modification in the AFP1m3 model and AFPIV were conducted thermodynamically at melting and freezing temperatures using molecular dynamics (MD) simulation. The structural analysis carried out through computer simulation and subsequent validation revealed that the AFP1m3 model demonstrated hydrophobic properties and existed in a fully helical configuration with an exceptional structural integrity. The results of MD simulation indicated that AFP1m3 exhibited superior ice interaction energy, measuring at -950 kcal/mol, and displayed enhanced stability with a hydrogen bond lifetime of 60 ns when compared to AFPIV. Examining the behavior of AFP1m3 thermodynamically at four different temperatures (273 K, 269 K, 263 K, and 253 K) discovered that AFP1m3 exhibited greater effectiveness in subzero circumstances due to the hydrophobic and hydrophilic interactions, contrasting with AFPIV. This research provides a glimpse into the newly developed AFPIV, which exhibits remarkable effectiveness and shows substantial promise for utilization in diverse fields.
Development and evaluation of an index assessing adherence to the Norwegian food-based dietary guidelines: the Norwegian Dietary Guideline Index (NDGI)
Authors: Totland Torunn Holm , Øvrebø Bente , Brantsæter Anne Lise , Holvik Kristin , Bere Elling Tufte , Torheim Liv Elin , Abel Marianne Hope 
Published: January 2024

Abstract
Background: Monitoring adherence to the Norwegian food-based dietary guidelines (FBDGs) could provide valuable insight into current and future diet-related health risks. The aim of this study was to develop and evaluate an instrument for measuring adherence to the Norwegian FBDGs as a tool in nutrition surveillance, which can be suitable for inclusion in large public health surveys covering multiple health- and lifestyle factors.
Methods: A Norwegian Dietary Guideline Index (NDGI) was designed to reflect adherence to the Norwegian FBDGs on a scale from 0-100, with a higher score indicating higher adherence. Dietary intakes were surveyed by 19 questions, reflecting 15 dietary components covered by the Norwegian FBDGs. The NDGI was applied and evaluated using nationally representative dietary data from the cross-sectional web-based Norwegian Public Health Survey among 8,558 adults.​
Results: The population-weighted mean NDGI score was 65 (SD 11), and the scores were normally distributed across a range of 21-99. Mean score varied with background factors known to be associated with adherence to a healthy diet, for example women scored higher than men (67.2 vs 63.5) and the score increased with age in both sexes. The index was multidimensional and captured various dietary patterns that contribute to a healthy diet.
Conclusion: The NDGI is a compact tool for assessing diet that may be used for monitoring trends in adherence to the Norwegian FBDGs, to identify target groups for interventions, and for priorities in public health policies.​ The tool is transparent and flexible and may as such be applicable in other countries or settings with similar guidelines.
“Correlation of Anthropometric Parameters and Family History of Hypertension with Inter-arm Blood Pressure Difference among Normotensive Adults in Ginchi Town, Western Ethiopia: A Community-based Cross- sectional Study”
Authors: Tadesse Habtamu , Mulat Elias , Dereje Diriba , Berhanu Abdi , Abera Mengistu 
Published: January 2024

Abstract

Background The risk factors and condition of cardiovascular disease have been associated with raised inter-arm blood pressure differences. Globally, the primary risk factor for cardiovascular death is hypertension. Regardless of a blood pressure differences between the arms, one-arm blood pressure readings are frequently performed in clinical settings. This practice has been related to poor control of hypertension and a higher rate of hypertension diagnosis delays. This study aims to determine the correlation between the inter-arm blood pressure difference and anthropometric parameters as well as a family history of hypertension.Methods From September 25 to November 15, 2022, a community-based cross-sectional study was carried out among adult normotensive residents of Ginchi town. 567 study participants were chosen using a multistage sampling technique. An interviewer-administered questionnaire was used to gather information on socio-demographic characteristics and family history of hypertension. Anthropometric parameters and blood pressure were measured using non-stretching tape, a combined digital weight and height scale, and a digital blood pressure apparatus, respectively. The correlation between continuous variables was shown by Pearson's correlation coefficient, while the correlation between continuous variables and categorical variables was examined using a one-way ANOVA and a two independent sample t-test.Results The study found that 52.96% of participants had increased blood pressure differences between arms; 39.2% (95% CI, 35.1–43.3) had increased systolic blood pressure differences between arms, and 13.76% (95% CI, 11-16.9) had increased diastolic blood pressure differences between arms.. Increased diastolic inter-arm blood pressure difference was statistically correlated with weight, arm circumference, waist circumference, body mass index, and family history of hypertension; elevated systolic inter-arm blood pressure difference was correlated with height, arm circumference, body mass index, and family history of hypertension.Conclusion Among persons with normotension, the increased interarm blood pressure difference was 52.96%, and it was significantly correlated with anthropometric parameters and a family history of hypertension. Thus, it is important to measure blood pressure in both arms as part of standard clinical practice. Additionally, more investigation is needed to elucidate the mechanism and causal relationship between cardiovascular risk factors and IAD.
LLIN Evaluation in Uganda Project (LLINEUP2) – Association between housing and malaria burden in 32 districts
Authors: Gonahasa Samuel , Nassali Martha , Maiteki-Ssebuguzi Catherine , Namuganga Jane , Opigo Jimmy , Nabende Isaiah , Okiring Jaffer , Epstein Adrienne , Snyman Katherine , Nankabirwa Joaniter , Kamya Moses , Dorsey Grant , Staedke Sarah 
Published: January 2024

Abstract

Well-built housing limits mosquito entry and can reduce malaria transmission. The association between community-level housing and malaria burden in Uganda was assessed using data from randomly selected households near 64 health facilities in 32 districts. Houses were classified as ‘improved’ (synthetic walls and roofs, eaves closed or absent) or ‘less-improved’ (all other construction). Associations between housing and parasitaemia were made using mixed effects logistic regression (individual-level) and multivariable fractional response logistic regression (community-level), and between housing and malaria incidence using multivariable Poisson regression. Between November 2021 and March 2022, 4,893 children aged 2–10 years were enrolled from 3,518 houses; of these, 1,389 (39.5%) were classified as improved. Children living in improved houses had 58% lower odds (adjusted odds ratio = 0.42, 95% CI 0.33–0.53, p < 0.0001) of parasitaemia than children living in less-improved houses. Communities with > 67% of houses improved had a 63% lower parasite prevalence (adjusted prevalence ratio 0.37, 95% CI 0.19–0.70, p < 0.0021) and 60% lower malaria incidence (adjusted incidence rate ratio 0.40, 95% CI 0.36–0.44, p < 0.0001) compared to communities with < 39% of houses improved. Improved housing was strongly associated with lower malaria burden across a range of settings in Uganda and should be utilised for malaria control.
Topological transformation of synthetic ferromagnetic skyrmions: thermal assisted switching of helicity by spin-orbit torque
Authors: Zhao Yuelei , Wu Kai , Hao Hongyuan , Yang Sheng , Li Shuang , Liu Qingfang , Zhang Senfu , Zhang Xixiang , Åkerman Johan , Zhou Yan 
Published: January 2024

Abstract

Electrical manipulation of topological spin textures, such as magnetic skyrmions, and their transitions between different topological states have attracted significant attention due to their potential applications in future spintronic devices. The helicity of a magnetic skyrmion, a crucial topological degree of freedom, is usually determined by the Dzyaloshinskii-Moriya interaction (DMI). Although there are methods to facilitate helicity flipping by choosing materials that lack DMI, in these materials, helicity reversal tends to occur in a random manner, which makes it unsuitable for practical applications. As of now, controlling the helicity of a skyrmion remains a challenging task. In this work, we successfully demonstrate a controllable switching of the helicity of skyrmion using spin-orbit torque, aided by thermal effects. When electric current pulses are applied to a magnetic multilayer stripe consisting of [Pt/Co]3/Ru/[Co/Pt]3, we observe that skyrmions move in the direction opposite to the current. Upon continuously applying pulses, we observe an unexpected reversal in the motion direction of the particles. Our investigation, which includes both experimental and micromagnetic simulation analyses, reveales that skyrmions in the upper and lower ferromagnetic layers of our multilayers exhibit distinct helicities, resulting in the formation of a hybrid synthetic ferromagnetic (SF) skyrmion. We discover that as Joule heating builds up during the current application process, the spin-orbit torque disrupts the balance between various energy factors, including DMI, Ruderman-Kittel-Kasuya-Yosida (RKKY) interaction, dipolar interaction, and others. This disruption leads to a helicity flip in the skyrmions, causing a sudden reversal in their motion. Our findings pave the way for new methods to control skyrmion helicity, offering enhanced versatility for future spintronic devices, such as advanced data storage systems and quantum computation technologies, that rely on skyrmion helicity.
External validation of population pharmacokinetic models of tacrolimus in Thai adult liver transplant recipients
Authors: Komenkul Virunya , Sukarnjanaset Waroonrat , Kolmolmit Piyawat , Wattanavijitkul Thitima 
Published: January 2024

Abstract

Objective
Several population pharmacokinetic models of tacrolimus in liver transplant patients were built and the predictability was evaluated in their own setting. However, the extrapolation in the prediction was unclear. This study aimed to evaluate the predictive performance of published tacrolimus models in adult liver transplant recipients using data from the Thai population as an external dataset.
Methods
The selected published models were systematically searched and evaluated for their quality. The external dataset of patients who underwent the first liver transplant and received immediate-release tacrolimus was used to evaluate the predictive performance of each selected model. Trough concentrations between 3 and 6 months were retrospectively collected to evaluate the predictability of each model using prediction-based diagnostics, simulation-based diagnostics, and Bayesian forecasting.
Results
Sixty-seven patients with 360 trough concentrations and 8 selected published models were included in this study. None of the models met the predictive precision criteria in prediction-based diagnostics. Meanwhile, there were four published population pharmacokinetic models that showed a normal distribution in NPDE testing. Regarding Bayesian forecasting, all models improved their forecasts with at least one prior information data point.
Conclusion
Bayesian forecasting is more accurate and precise than other testing methods for predicting drug levels. However, no model provides satisfactory predictive performance that meets all the testing criteria when generalized to Thai liver transplant patients. Therefore, appropriate population pharmacokinetic models for the Thai population should be developed in the future.