bluuebunny/crossref_metadata_2025_split huggingface dataset:
Do metabolic factors increase the risk of thyroid cancer? a Mendelian randomization study
Authors: Liang Weiwei , Sun FangFang 
Published: September 2023

BackgroundEpidemiological studies emphasize the link between metabolic factors and thyroid cancer. Using Mendelian randomization (MR), we assessed the possible causal impact of metabolic factors on thyroid cancer for the first time.MethodsSummary statistics for metabolic factors and thyroid cancer were obtained from published Genome-wide association studies. The causal relationships were assessed using the inverse-variance weighted (IVW) method as the primary method through a two-sample Mendelian Randomization (MR) analysis. To account for the potential existence of horizontal pleiotropy, four additional methods were employed, including Mendelian Randomization–Egger (MR-Egger), weighted median method (WM), simple mode, and weighted mode method. Given the presence of interactions between metabolic factors, a multivariable MR analysis was subsequently conducted.ResultsThe results showed there was a genetic link between HDL level and protection effect of thyroid cancer using IVW (OR= 0.75, 95% confidence intervals [CIs] 0.60-0.93, p=0.01) and MR-Egger method (OR= 0.70, 95% confidence intervals [CIs] 0.50- 0.97, p=0.03). The results remained robust in multivariable MR analysis for the genetic link between HDL level and protection effect of thyroid cancer (OR= 0.74, 95% confidence intervals [CIs] 0.55-0.99, p=0.04).ConclusionsThis study suggests a protection role for HDL on thyroid cancer. The study findings provide evidence for the public health suggestion for thyroid cancer prevention. HDL’s potential as a pharmacological target needs further validation.
Suitability of photovoltaic development and emission reduction benefits based on geographic information sensing and multi-criteria decision making method—an example from Inner Mongolia Autonomous Region
Authors: Xu Wei , Liu Zhenling , Liu Susu 
Published: September 2023

With the rapid development of the photovoltaic (PV) industry, the problem of the blind construction of PV power plants is becoming increasingly prominent. Thus, the scientific evaluation of the suitability of regional PV products, power generation potential, and emission reduction benefits is of great significance to the sustainable development of the PV industry. In this study, geographic information sensing and multi-criteria decision making methods are to be combined to calculate a PV development suitability index based on meteorology, topography, location, and vegetation to characterize the spatial patterns of the PV development in the Inner Mongolia Autonomous Region. Subsequently, the power generation potential and emission reduction benefits under different development scenarios were quantitatively assessed. The particularly suitable, and more suitable areas for the PV development in the Inner Mongolia Autonomous Region are 23.66% of the total area. Among these, the more suitable areas are the most extensive. The suitability of PV development in the western part of the Inner Mongolia Autonomous Region is more than that in the central and eastern parts. The suitable areas are mainly distributed in the Alashan League and Bayannur City in the west. Thus, the Inner Mongolia Autonomous Region has enormous potential for electricity generation. The development of 12.57% of the particularly suitable areas can meet the electricity consumption of the Inner Mongolia Autonomous Region in 2021. Moreover, sensitivity analysis is conducted to investigate the impacts of system efficiency variation on energy output. The distribution of the power generation potential and electricity demand in the Inner Mongolia Autonomous Region has robust spatial heterogeneity. PV power generation can achieve remarkable energy saving and emission reduction. If all particularly suitable areas are developed, the annual carbon emission reduction of the Inner Mongolia Autonomous Region will be approximately 2,446,621,000 t, which is 4.46 times the total carbon emission of the Autonomous Region and 21.2% of the total carbon emission of China in 2021. Therefore, this study provides a scientific reference and guide for selecting suitable sites for PV power plants and their sustainable development in the Inner Mongolia Autonomous Region.
Pregnancy outcomes and genetic analysis for fetal ventriculomegaly
Authors: Tao Huimin , Zhang Lin , Tan Fangfang , Han Yu , Wang Xuezhen , Wu Jiebin , Zhai Jingfang 
Published: September 2023

Introduction: Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor.Methods: To systematically investigate the genetic etiology of fetal VM and related pregnancy outcomes in different subgroups: IVM (isolated VM) and NIVM (non-isolated VM); unilateral and bilateral VM; mild, moderate, and severe VM, a retrospective study including 131 fetuses with VM was carried out from April 2017 to August 2022.Results: 82 cases underwent amniocentesis or cordocentesis, of whom 8 cases (9.8%) were found chromosomal abnormalities by karyotyping. Meanwhile, additional 8 cases (15.7%) with copy number variations (CNVs) were detected by copy number variation sequencing (CNV-seq). The detection rate (DR) of chromosomal abnormalities was higher in NIVM, bilateral VM and severe VM groups. And CNVs frequently occurred in NIVM, bilateral VM and moderate VM groups. In the NIVM group, the incidence of chromosomal aberrations and CNVs in multiple system anomalies (19.0%, 35.7%) was higher than that in single system anomalies (10.0%, 21.1%). After dynamic ultrasound follow-up, 124 cases were available in our cohort. 12 cases were further found other structural abnormalities, and lateral ventricular width was found increased in 8 cases and decreased in 15 cases. Meanwhile, 82 cases underwent fetal brain MRI, 10 cases of brain lesions and 11 cases of progression were additionally identified. With the involvement of a multidisciplinary team, 45 cases opted for termination of pregnancy (TOP) and 79 cases were delivered with live births. One infant death and one with developmental retardation were finally found during postnatal follow-ups.Discussion: CNV-seq combined with karyotyping could effectively improve the diagnostic rate in fetuses with VM. Meanwhile, dynamic ultrasound screening and multidisciplinary evaluation are also essential for assessing the possible outcomes of fetuses with VM.
Association study of WNK1 genetic variants and essential hypertension risk in the Northern Han Chinese in Beijing
Authors: Liu Kuo , Liu Jielin , Liu Ya , Wang Hao , Wang Zuoguang , Liu Jinghua , Wen Shaojun 
Published: September 2023

Background: Essential hypertension (EH) is a complex disorder resulting from interaction of genetic and environmental factors. Lysine deficient protein kinase 1 (WNK1) plays a very important role in maintaining renal potassium, sodium and chlorine ions balance as well as the regulation of blood pressure, so the WNK1 gene is considered a key gene for EH. This study thus sought to evaluate possible genetic associations between the WNK1 genetic variants and EH risk in the Northern Han Chinese population in Beijing.Methods: This study included 476 hypertensive subjects and 491 normotensive subjects. A total of 12 tag SNVs of WNK1 gene were genotyped successfully by TaqMan assay. Comparisons of the genotypic and allelic frequency between cases and controls were made by using the chi-square test. Logistic regression analyses were performed under different genetic models, and haplotype analysis was also conducted.Results: A total of 12 SNVs were identified as the tag SNVs for WNK1 gene. Significant associations were observed between WNK1 gene rs7305099 variant and EH risk, and T allele influenced hypertension risk in a protective manner. After correcting for multiple testing using Bonferroni, the significance remained for the SNV of rs7305099 in three genetic models [allele comparison, p &lt; 0.0002, OR = 0.627, 95%CI (0.491–0.801); homozygote comparison, p &lt; 0.0003, OR = 0.278, 95%CI (0.140–0.552); additive model, p &lt; 0.0003, OR = 0.279, 95%CI (0.140–0.553)]. In the haplotype analyses, we found that the haplotype A-A-A-C-G-G-G was significantly associated with increased risk for EH (p = 0.043, OR = 1.23).Conclusion: Our data suggested that the rs7305099 genetic variant and the haplotype A-A-A-C-G-G-G on WNK1 gene might be associated with the susceptibility of EH in the Northern Han Chinese population. These could provide evidences to the risk assessment, early prevention and individualized therapy of EH to some extent.
Direct oral anti-Xa anticoagulants versus warfarin in newly diagnosed atrial fibrillation and CKD: the Korean National Health Insurance Data
Authors: Kee Youn Kyung , Jeon Hee Jung , Oh Jieun , Yoo Tae-Hyun , Kang Dongwoo , Lee Jungkuk , Shin Dong Ho 
Published: September 2023

IntroductionDespite the benefits of direct oral anti-Xa anticoagulants (DOACs), the risk–benefit profile of DOAC therapy compared to warfarin therapy in patients with non-valvular atrial fibrillation (AF) and chronic kidney disease (CKD), including end-stage renal disease (ESRD), is uncertain.MethodsWe conducted a retrospective study using the Korea National Health Insurance Database from 2013 to 2018. We evaluated patients with incident non-valvular AF and CKD. The primary and secondary effectiveness outcomes were ischemic stroke and all-cause mortality. The primary safety outcomes included intracranial hemorrhage, gastrointestinal bleeding, and extracranial or unclassified major bleeding.ResultsAmong the 1,885 patients evaluated, 970 (51.5%) initiated warfarin therapy, and 915 (48.5%) initiated DOAC therapy. During a mean follow-up period of 23.8 months, there were 293 and 214 cases of ischemic stroke and all-cause death, respectively. Kaplan–Meier survival analysis showed significantly lower all-cause mortality in DOAC users than in warfarin users. In multivariate Cox regression analyses, DOAC therapy had a hazard ratio for all-cause mortality of 0.41 (95% CI, 0.30–0.56; p &lt; 0.001) compared to warfarin therapy. Additionally, DOAC therapy significantly reduced intracranial hemorrhage and gastrointestinal bleeding.DiscussionOur study demonstrates that DOAC therapy has a better risk–benefit profile than warfarin therapy in patients with AF and CKD. Further well-designed clinical trials are needed to clarify the benefits of DOACs in this patient population.
A rehabilitative approach beyond the acute stroke event: a scoping review about functional recovery perspectives in the chronic hemiplegic patient
Authors: Paolucci Teresa , Agostini Francesco , Mussomeli Elena , Cazzolla Sara , Conti Marco , Sarno Francescapia , Bernetti Andrea , Paoloni Marco , Mangone Massimiliano 
Published: September 2023

BackgroundStroke is a main cause of disability worldwide and its neuro-rehabilitative management is not limited to the acute phase but requires continuity in the rehabilitation approach especially in the chronic phase. The aim of this scoping review was to highlight the different treatment opportunities available in neurorehabilitation, effective for patients with chronic stroke sequelae, not only in terms of maintaining motor function but also improving it.MethodsThe literature search was conducted using the following databases: MEDLINE (PubMed), PEDro, Scopus, Web of Science (WOS), Cochrane from 2012 to February 2023. We selected Randomized Clinical Trials in English dealing with neurorehabilitation strategies in chronic hemiplegic patients after stroke focusing on motor function, muscular strength, gait, postural balance, spasticity, and quality of life.ResultsAccording to the inclusion criteria, 47 articles were selected for our review. All of them were analyzed following the primary outcome and the rehabilitation technique used. Despite the different protocols used within the same technique and despite the chronicity of the disease, all studies report an improvement after the rehabilitation treatment of motor function and quality of life.ConclusionThe literature analyzed invites us to reflect respect to neurorehabilitation approach to the patient with chronic stroke sequelae often considered to have as its objective the maintenance of the present motor function and contain disability: instead, the review reports how, even in chronicity, the patient always reports margins of statistically and clinically significant improvement. The chronic stroke rehabilitation over 6 months has been proved effective in obtaining recovery in different settings.
Mitochondrial apoptosis-related gene polymorphisms are associated with responses to anthracycline-based chemotherapy in acute myeloid leukaemia
Authors: Meng Guangqiang , Li Mingying , Xia Yuan , Wu Yuyan , Ma Yuechan , Ji Min , Zhang Jingru , Ye Jingjing , Sun Tao , Ji Chunyan 
Published: September 2023

BackgroundAlthough anthracyclines are the first-line chemotherapy drugs for treating non-M3 acute myeloid leukaemia (AML), their efficacy remains limited. It is important to identify factors that influence the efficacy of anthracyclines against AML. Mitochondrial apoptosis-related genes play significant roles in the pathogenesis, treatment, and prognosis of AML.MethodsWe utilized the CRISPR/Cas9 screening system to find AML anthracyclines resistance related genes and several mitochondrial apoptosis-related genes, such as BCL2L11, CASP8, TP63, TP53BP2, PLAUR, SOD2, BNIP3L, and MMP9, were screened out. Then, DNA from 279 patients with AML and 321 healthy individuals were extracted and the contributions of single nucleotide polymorphisms (SNPs) within these genes to the patient’s chemotherapy response, susceptibility to AML, and overall survival were investigated.ResultsOur findings indicated that SNP rs4251864 in the PLAUR gene was associated with an increase in complete remission after anthracycline-based induction chemotherapy. rs4880 in SOD2 was associated with the response to the second course of chemotherapy, whereas rs3789068 in BCL2L11 was associated with susceptibility to AML.ConclusionsOur results about the association of SNPs in mitochondrial apoptosis-related genes with the response to anthracycline-based chemotherapy in AML provide an important reference for predicting the treatment outcomes in patients with this disease.
Restriction spectrum imaging with elastic image registration for automated evaluation of response to neoadjuvant therapy in breast cancer
Authors: Andreassen Maren M. Sjaastad , Loubrie Stephane , Tong Michelle W. , Fang Lauren , Seibert Tyler M. , Wallace Anne M. , Zare Somaye , Ojeda-Fournier Haydee , Kuperman Joshua , Hahn Michael , Jerome Neil P. , Bathen Tone F. , Rodríguez-Soto Ana E. , Dale Anders M. , Rakow-Penner Rebecca 
Published: September 2023

PurposeDynamic contrast-enhanced MRI (DCE) and apparent diffusion coefficient (ADC) are currently used to evaluate treatment response of breast cancer. The purpose of the current study was to evaluate the three-component Restriction Spectrum Imaging model (RSI3C), a recent diffusion-weighted MRI (DWI)-based tumor classification method, combined with elastic image registration, to automatically monitor breast tumor size throughout neoadjuvant therapy.Experimental designBreast cancer patients (n=27) underwent multi-parametric 3T MRI at four time points during treatment. Elastically-registered DWI images were used to generate an automatic RSI3C response classifier, assessed against manual DCE tumor size measurements and mean ADC values. Predictions of therapy response during treatment and residual tumor post-treatment were assessed using non-pathological complete response (non-pCR) as an endpoint.ResultsTen patients experienced pCR. Prediction of non-pCR using ROC AUC (95% CI) for change in measured tumor size from pre-treatment time point to early-treatment time point was 0.65 (0.38-0.92) for the RSI3C classifier, 0.64 (0.36-0.91) for DCE, and 0.45 (0.16-0.75) for change in mean ADC. Sensitivity for detection of residual disease post-treatment was 0.71 (0.44-0.90) for the RSI3C classifier, compared to 0.88 (0.64-0.99) for DCE and 0.76 (0.50-0.93) for ADC. Specificity was 0.90 (0.56-1.00) for the RSI3C classifier, 0.70 (0.35-0.93) for DCE, and 0.50 (0.19-0.81) for ADC.ConclusionThe automatic RSI3C classifier with elastic image registration suggested prediction of response to treatment after only three weeks, and showed performance comparable to DCE for assessment of residual tumor post-therapy. RSI3C may guide clinical decision-making and enable tailored treatment regimens and cost-efficient evaluation of neoadjuvant therapy of breast cancer.
Group-based psychoeducational workshop for parents in Kenya: findings from a pilot study
Authors: Alemu Rediet Emebet Getnet , Nyatete Hilda , Baseke Rosine , Ngatia Veronicah , Osborn Tom L. , Wasanga Christine M. 
Published: September 2023

IntroductionLow levels of mental health literacy amongst parents can have negative effects on youth mental wellbeing and help-seeking behaviors. Here, we explored the impact of a brief psychoeducational workshop on improving parent mental health literacy and family relationships in Kibera, a low-resource high-risk setting in Nairobi, Kenya.MethodsThe workshop was designed to address this issue, and it was delivered by trained facilitators to small groups of parents (N = 72). Data was collected at baseline, post-workshop, two-week follow-up, and one-month follow-up.ResultsStatistical and thematic analysis of the data revealed significant improvements in parent mental health literacy scores and family relationships, indicating the acceptability and effectiveness of this workshop.DiscussionThe findings suggest that brief, group-based psychoeducational workshops can be effective in improving parent mental health literacy and family relationships, thereby addressing challenges faced by parents and youth in the Kenyan context. Future studies are needed to conclusively determine if such workshops can improve participants’ own mental health or their perception of child behavior.
Image-guidance in endoscopic pituitary surgery: an in-silico study of errors involved in tracker-based techniques
Authors: Enkaoua Aure , Islam Mobarakol , Ramalhinho João , Dowrick Thomas , Booker James , Khan Danyal Z. , Marcus Hani J. , Clarkson Matthew J. 
Published: September 2023

BackgroundEndoscopic endonasal surgery is an established minimally invasive technique for resecting pituitary adenomas. However, understanding orientation and identifying critical neurovascular structures in this anatomically dense region can be challenging. In clinical practice, commercial navigation systems use a tracked pointer for guidance. Augmented Reality (AR) is an emerging technology used for surgical guidance. It can be tracker based or vision based, but neither is widely used in pituitary surgery.MethodsThis pre-clinical study aims to assess the accuracy of tracker-based navigation systems, including those that allow for AR. Two setups were used to conduct simulations: (1) the standard pointer setup, tracked by an infrared camera; and (2) the endoscope setup that allows for AR, using reflective markers on the end of the endoscope, tracked by infrared cameras. The error sources were estimated by calculating the Euclidean distance between a point’s true location and the point’s location after passing it through the noisy system. A phantom study was then conducted to verify the in-silico simulation results and show a working example of image-based navigation errors in current methodologies.ResultsThe errors of the tracked pointer and tracked endoscope simulations were 1.7 and 2.5 mm respectively. The phantom study showed errors of 2.14 and 3.21 mm for the tracked pointer and tracked endoscope setups respectively.DiscussionIn pituitary surgery, precise neighboring structure identification is crucial for success. However, our simulations reveal that the errors of tracked approaches were too large to meet the fine error margins required for pituitary surgery. In order to achieve the required accuracy, we would need much more accurate tracking, better calibration and improved registration techniques.
Identification of Anaplasma marginale, Babesia bovis and Babesia bigemina resistance alleles in Crioulo Lageano cattle using PCR-SBT and BoLA-DRB3 gene sequencing
Authors: Casa Mariana da Silva , Giovambattista Guillermo , Fonteque Graziela Vieira , Miguel Ellen Lara , Vogel Carla Ivane Ganz , Miletti Luiz Claudio , Takeshima Shin-Nosuke , Fonteque Joandes Henrique 
Published: September 2023

IntroductionThe BoLA-DRB3 gene in cattle is associated with tolerance to several infectious diseases, such as neosporosis, dermatophilosis, leukosis, and mastitis.MethodsThis study used PCR-SBT and BoLA-DRB3 gene sequencing to determine the association between the presence or absence of Anaplasma marginale, Babesia bovis, and Babesia bigemina infections in 208 Crioulo Lageano cattle and alleles present in the population. The chi-square test and odds ratio analysis were employed to establish the association.ResultsOf the BoLA-DRB3 gene alleles present in the population, two alleles were significantly associated with resistance to A. marginale infections: BoLA-DRB3001:01 (p &lt; 0.001; OR = 0.224), which had a frequency of 7.93%, and BoLA-DRB3024:06 (p = 0.007; OR &lt; 0.00001), which had a frequency of 0.72%. Regarding B. bovis infection, the BoLA-DRB3*011:01 allele (p = 0.002; OR = 0.271) had a frequency of 6% in the population and was associated with resistance to the infection. None of the alleles was associated with resistance to infection by B. bigemina.DiscussionThe Crioulo Lageano breed has alleles that may confer resistance against infection by A. marginale and B. bovis.
Study on Abundant Dust-Ion-Acoustic Solitary Wave Solutions of a (3+1)-Dimensional Extended Zakharov–Kuznetsov Dynamical Model in a Magnetized Plasma and Its Linear Stability
Authors: Arshad Muhammad , Seadawy Aly R. , Tanveer Muhammad , Yasin Faisal 
Published: September 2023

This article examines how shocks and three-dimensional nonlinear dust-ion-acoustic waves propagate across uniform magnetized electron–positron–ion plasmas. The two-variable (G′/G,1/G)-expansion and generalized exp(−ϕ(ξ))-expansion techniques are presented to construct the ion-acoustic wave results of a (3+1)-dimensional extended Zakharov–Kuznetsov (eZK) model. As a result, the novel soliton and other wave solutions in a variety of forms, including kink- and anti-kink-type breather waves, dark and bright solitons, kink solitons, and multi-peak solitons, etc., are attained. With the help of software, the solitary wave results (that signify the electrostatic potential field), electric and magnetic fields, and quantum statistical pressures are also constructed. These solutions have numerous applications in various areas of physics and other areas of applied sciences. Graphical representations of some of the obtained results, and the electric and magnetic fields as well as the electrostatic field potential are also presented. These results demonstrate the effectiveness of the presented techniques, which will also be useful in solving many other nonlinear models that arise in mathematical physics and several other applied sciences fields.