bluuebunny/crossref_metadata_2025 huggingface dataset:
Managing genomic diversity in conservation programs of Chinese domestic chickens
Authors: Zhang Mengmeng , Wang Shiwei , Xu Ran , Liu Yijun , Zhang Han , Sun Mengxia , Wang Junyan , Liu Zhexi , Wu Keliang
Published: December 2023

Background

Effective conservation and utilization of farm animals are fundamental for realizing sustainable increases in food production. In situ and ex situ conservation are the two main strategies that are currently used to protect the genetic integrity of Chinese domestic chicken breeds. However, genomic diversity and population structure have not been compared in these conserved populations.

Results

Three hundred and sixty-one individuals from three Chinese domestic chicken breeds were collected from populations conserved in situ and ex situ and genotyped using genotyping-by-sequencing (GBS). First, we used different parameters based on heterozygosity, genomic inbreeding, and linkage disequilibrium to estimate the genomic diversity of these populations, and applied principal component analysis (PCA), neighbor-joining tree, and ADMIXTURE to analyze population structure. We found that the small ex situ conserved populations, which have been maintained in controlled environments, retained less genetic diversity than the in situ conserved populations. In addition, genetic differentiation was detected between the in situ and ex situ conserved populations of the same breed. Next, we analyzed signatures of selection using three statistical methods (fixation index (FST), nucleotide diversity (Pi), and cross-population extended haplotype homozygosity (XP-EHH) to study the genetic footprints that underlie the differentiation between in situ and ex situ conserved populations. We concluded that, in these small populations, differentiation might be caused by genetic drift or by mutations from the original populations. The differentiation observed in the population of Beijing You chicken probably reflects adaptation to environmental changes in temperature and humidity that the animals faced when they were moved from their place of origin to the new site for ex situ conservation.

Conclusions

Conservation programs of three Chinese domestic chicken breeds have maintained their genomic diversity to a sustainable degree. The small ex situ conserved populations, which are maintained in controlled environments, retain less genetic diversity than populations conserved in situ. In addition, the transfer of populations from their place of origin to another site for conservation purposes results in genetic differentiation, which may be caused by genetic drift or adaptation. This study provides a basis for further optimization of in situ and ex situ conservation programs for domestic chicken breeds in China.
Diverse WGBS profiles of longissimus dorsi muscle in Hainan black goats and hybrid goats
Authors: Ren Yuwei , Chen Xing , Zheng Xinli , Wang Feng , Sun Ruiping , Wei Limin , Zhang Yan , Liu Hailong , Lin Yanning , Hong Lingling , Huang Xiaoxian , Chao Zhe
Published: December 2023

Background

Goat products have played a crucial role in meeting the dietary demands of people since the Neolithic era, giving rise to a multitude of goat breeds globally with varying characteristics and meat qualities. The primary objective of this study is to pinpoint the pivotal genes and their functions responsible for regulating muscle fiber growth in the longissimus dorsi muscle (LDM) through DNA methylation modifications in Hainan black goats and hybrid goats.

Methods

Whole-genome bisulfite sequencing (WGBS) was employed to scrutinize the impact of methylation on LDM growth. This was accomplished by comparing methylation differences, gene expression, and their associations with growth-related traits.

Results

In this study, we identified a total of 3,269 genes from differentially methylated regions (DMR), and detected 189 differentially expressed genes (DEGs) through RNA-seq analysis. Hypo DMR genes were primarily enriched in KEGG terms associated with muscle development, such as MAPK and PI3K-Akt signaling pathways. We selected 11 hub genes from the network that intersected the gene sets within DMR and DEGs, and nine genes exhibited significant correlation with one or more of the three LDM growth traits, namely area, height, and weight of loin eye muscle. Particularly, PRKG1 demonstrated a negative correlation with all three traits. The top five most crucial genes played vital roles in muscle fiber growth: FOXO3 safeguarded the myofiber’s immune environment, FOXO6 was involved in myotube development and differentiation, and PRKG1 facilitated vasodilatation to release more glucose. This, in turn, accelerated the transfer of glucose from blood vessels to myofibers, regulated by ADCY5 and AKT2, ultimately ensuring glycogen storage and energy provision in muscle fibers.

Conclusion

This study delved into the diverse methylation modifications affecting critical genes, which collectively contribute to the maintenance of glycogen storage around myofibers, ultimately supporting muscle fiber growth.
International diet quality index and revised diet quality index relationship with non-alcoholic fatty liver disease: a case-control study
Authors: Najibi Narjes , Jahromi Mitra Kazemi , Teymoori Farshad , Farhadnejad Hossein , Salehi-Sahlabadi Ammar , Mirmiran Parvin
Published: December 2023

Background/objectives

Recent studies show the potential role of dietary quality and quantity in predicting the risk of chronic diseases, such as liver disease, therefore, in the present study, we aimed to assess the association of diet quality index International (DQI-I) and diet quality index revised (DQI-R) and their main components with the odds of non-alcoholic fatty liver disease (NAFLD) in adult populations.

Methods

The current case-control study was conducted on 225 patients with NAFLD and 450 controls. Dietary intake was assessed using a validated 168-item food frequency questionnaire, and DQI-I and DQI-R were calculated in participants. Multi-variable logistic regression was used to examine the association of DQI-I and DQI-R and their components with the odds of NAFLD.

Results

The mean (SD) age and BMI of participants (53% men) were 38.1 (8.8) years and 26.8 (4.3) kg/m2, respectively. In the final model, each one SD increment in the DQI-I score was associated with decreased odds of NAFLD (OR = 0.63; 95%CI = 0.40–0.98) (P = 0.040). Also, of DQI-I components, high adequacy score was related to lower odds of NAFLD (OR = 0.16; 95%CI = 0.06–0.40) (P < 0.001). Also, our findings showed that participants in the highest tertile of DQI-R score had lower odds of NAFLD compared to the lowest tertile of DQI-R (OR = 0.24; 95%CI = 0.10–0.53) (P < 0.001). Furthermore, of DQI-R components, high moderation score are linked to a lower risk of NAFLD (OR = 0.17;95%CI = 0.07–0.43) (P < 0.001).

Conclusion

Our findings suggested that greater adherence to diet with a higher score of DQI-I and DQI-R may be associated with lower odds of NAFLD.
Radiomic texture analysis based on neurite orientation dispersion and density imaging to differentiate glioblastoma from solitary brain metastasis
Authors: Bai Jie , He Mengyang , Gao Eryuan , Yang Guang , Yang Hongxi , Dong Jie , Ma Xiaoyue , Gao Yufei , Zhang Huiting , Yan Xu , Zhang Yong , Cheng Jingliang , Zhao Guohua
Published: December 2023

Background

We created discriminative models of different regions of interest (ROIs) using radiomic texture features of neurite orientation dispersion and density imaging (NODDI) and evaluated the feasibility of each model in differentiating glioblastoma multiforme (GBM) from solitary brain metastasis (SBM).

Methods

We conducted a retrospective study of 204 patients with GBM (n = 146) or SBM (n = 58). Radiomic texture features were extracted from five ROIs based on three metric maps (intracellular volume fraction, orientation dispersion index, and isotropic volume fraction of NODDI), including necrosis, solid tumors, peritumoral edema, tumor bulk volume (TBV), and abnormal bulk volume. Four feature selection methods and eight classifiers were used for the radiomic texture feature selection and model construction. Receiver operating characteristic (ROC) curve analysis was used to evaluate the diagnostic performance of the models. Routine magnetic resonance imaging (MRI) radiomic texture feature models generated in the same manner were used for the horizontal comparison.

Results

NODDI-radiomic texture analysis based on TBV subregions exhibited the highest accuracy (although nonsignificant) in differentiating GBM from SBM, with area under the ROC curve (AUC) values of 0.918 and 0.882 in the training and test datasets, respectively, compared to necrosis (AUCtraining:0.845, AUCtest:0.714), solid tumor (AUCtraining:0.852, AUCtest:0.821), peritumoral edema (AUCtraining:0.817, AUCtest:0.762), and ABV (AUCtraining:0.834, AUCtest:0.779). The performance of the five ROI radiomic texture models in routine MRI was inferior to that of the NODDI-radiomic texture model.

Conclusion

Preoperative NODDI-radiomic texture analysis based on TBV subregions shows great potential for distinguishing GBM from SBM.
Two novel mutations within FREM1 gene in patients with bifid nose
Authors: Chen Xiaoxue , Yu Baofu , Wang Zi , Li Qingfeng , Dai Chuanchang , Wei Jiao
Published: December 2023

Background

Bifid nose is a rare congenital deformity and the etiology is unknown. The purpose of this study was to report genetic variation in family of patients with bifid nose.

Methods

Twenty-three consecutive patients who were diagnosed with mild bifid nose were operated with z-plasty from 2009 to 2021. Three underage patients (a pair of twins and a girl) from two family lines, who came to our hospital for surgical treatment, were enrolled. Whole exome sequencing and Sanger sequencing were conducted. Z-shaped flaps were created and the cartilago alaris major were re-stitched. Photographs and CT scan before and after surgery were obtained. Clinical outcomes, complications and patients’ satisfaction were evaluated and analyzed. The follow-up time ranges from 2 to 3 years (2.4 ± 1.2 years).

Results

Most patients were satisfied with the outcome (96.2%). The nasal deformities were corrected successfully with z-plasty technique in one-stage. FREM1 c.870_876del and c.2 T > C were detected with Whole exome sequencing, which have not been reported before. The results of Sanger sequencing were consistent with those of Whole exome sequencing.

Conclusions

The newly detected mutations of FREM1 have a certain heritability, and are helpful to make an accurate diagnosis and provide a better understanding of bifid nose mechanism. Z-plasty technique can be an effective technical approach for correcting mild bifid nose deformity.
Do the New Rural Pension Scheme promote the health status of chronic patients in old age? —Evidence from CHARLS 2018 in China
Authors: Liang Qihong , Chen Yuxuan , Zhang Zheng , An Shengli
Published: December 2023

Background

Many researchers have examined the impact of social insurance on health in elderly. However, in most cases, they have only demonstrated correlational results and have not been able to determine causal effects, possibly because confounding biases have not been fully addressed. In this study, we investigated the health effects of the New Rural Pension Scheme (NRPS) on the elderly (age≥60 years old) with chronic diseases in rural areas, and to explore the causal relationship and effects of NRPS and health status.

Methods

This paper used data from the 2018 China Health and Retirement Longitudinal Study (CHARLS) and applied Bayesian networks and fuzzy regression discontinuity design to conduct causal analysis. Bayesian networks were used to explore the causal directed acyclic graphs of factors related to NRPS and health status. Based on the results of Bayesian network, a fuzzy regression discontinuity design was employed to estimate the causal effect of NRPS on health status.

Results

Among rural elderly with chronic diseases, Bayesian network mapping of causal relationships among NRPS, health status and covariates showed that age was a common cause of NRPS receipt and satisfaction with health. The results of the fuzzy regression discontinuity analysis showed that the effect of receiving NRPS on the health status was positive, but there was no statistically significant difference concerning the interval estimates. The results of the subgroup analysis with chronic obstructive pulmonary disease (COPD) and asthma indicated that the effect of NRPS receipt on the health status of elderly people with COPD was positive. There was a statistically significant effect of receiving NRPS on self-rated health description ($${\beta }_{1}=3.653,P=0.032$$

β
1

=
3.653
,
P
=
0.032

) and health satisfaction ($${\beta }_{1}=4.204,P=0.033$$

β
1

=
4.204
,
P
=
0.033

) in COPD population and a statistically significant effect of receiving NRPS on health satisfaction in asthma population ($${\beta }_{1}=9.844,P=0.008$$

β
1

=
9.844
,
P
=
0.008

).

Conclusion

This paper has confirmed the contribution and positive causal effect of NRPS on health status in a subgroup of older adults with COPD and asthma, using the CHARLS database as evidence. Thus, Chinese government should increase the take-up rate of the NRPS to enhance their positive impact on health status of elderly people with chronic diseases in rural areas.
Biomechanical behaviour of a novel bone cement screw in the minimally invasive treatment of Kummell's disease: a finite element study
Authors: Xu Hanpeng , Feng Qing , Ma Xiang , Lan Jie , Ji Jingtao , Zhang Zepei , Miao Jun
Published: December 2023

Objective

To investigate and evaluate the biomechanical behaviour of a novel bone cement screw in the minimally invasive treatment of Kummell's disease (KD) by finite element (FE) analysis.

Methods

A validated finite element model of healthy adult thoracolumbar vertebrae T12-L2 was given the osteoporotic material properties and the part of the middle bone tissue of the L1 vertebral body was removed to make it wedge-shaped. Based on these, FE model of KD was established. The FE model of KD was repaired and treated with three options: pure percutaneous vertebroplasty (Model A), novel unilateral cement screw placement (Model B), novel bilateral cement screw placement (Model C). Range of motion (ROM), maximum Von-Mises stress of T12 inferior endplate and bone cement, relative displacement of bone cement, and stress distribution of bone cement screws of three postoperative models and intact model in flexion and extension, as well as lateral bending and rotation were analyzed and compared.

Results

The relative displacements of bone cement of Model B and C were similar in all actions studied, and both were smaller than that of Model A. The minimum value of relative displacement of bone cement is 0.0733 mm in the right axial rotation of Model B. The maximum Von-Mises stress in T12 lower endplate and bone cement was in Model C. The maximum Von-Mises stress of bone cement screws in Model C was less than that in Model B, and it was the most substantial in right axial rotation, which is 34%. There was no substantial difference in ROM of the three models.

Conclusion

The novel bone cement screw can effectively reduce the relative displacement of bone cement by improving the stability of local cement. Among them, novel unilateral cement screw placement can obtain better fixation effect, and the impact on the biomechanical environment of vertebral body is less than that of novel bilateral cement screw placement, which provides a reference for minimally invasive treatment of KD in clinical practice.
Effectiveness of Salvadora persica toothbrush and Salvadora persica chewing stick in plaque and gingivitis control: a randomized control trial
Authors: Azizan Nurul Fatin , Mohd Nurulhuda , Nik Azis Nik Madihah , Baharin Badiah
Published: December 2023

Background

The values of plant-based products have taken on an expanding relevance in dentistry. Salvadora persica chewing stick (miswak) has been practiced for centuries and is recommended by the World Health Organization as a customary oral hygiene tool. The therapeutic effects of S. persica chewing stick are contributed by its mechanical cleansing action, active chemicals released, or the combination of these two actions. However, the S. persica chewing stick in its natural form can be difficult to maneuver in certain parts of the mouth. This concern has inspired the innovation of the S. persica toothbrush that is designed to merge the ease of use of a toothbrush with the beneficial natural properties of S. persica preserved in its bristle. The present study aimed to compare the clinical effectiveness between S. persica toothbrush, S. persica chewing stick and the standard toothbrush in plaque and gingivitis control.

Methods

In this single-blinded and parallel randomized controlled trial, 78 participants were randomly divided into three groups to either use (i) S. persica toothbrush (MTB); (ii) S. persica chewing stick (MCS); or (iii) standard toothbrush (STB) in a standardized manner for three weeks. Plaque Index (PI) and Periodontal Inflamed Surface Area (PISA) values, measuring plaque levels and severity of gingivitis, respectively, were evaluated at baseline, one- and three-week post-interventions.

Results

The MCS group showed a significant improvement in the mean PISA values of the anterior teeth compared to the MTB and STB groups (MCS: from 16.35 ± 10.03 to 3.41 ± 1.14; MTB: from 25.20 ± 14.01 to 3.57 ± 1.19; STB: from 26.54 ± 8.64 to 6.17 ± 0.86; p < .050). All three groups reported significant improvements (p < .001) in the plaque levels and the severity of gingivitis from baseline to three weeks after the intervention.

Conclusions

Following correct techniques, S. persica toothbrush and chewing sticks are as effective as the standard toothbrush in plaque control and gingival health, which represent the reputed anti-plaque and anti-gingivitis properties of S. persica.

Trial registration

This clinical trial was prospectively registered in ClinicalTrials.gov with registration NCT04650685 (25/11/2020).
Computer-aided autism diagnosis using visual attention models and eye-tracking: replication and improvement proposal
Authors: Franco Felipe O. , Oliveira Jessica S. , Portolese Joana , Sumiya Fernando M. , Silva Andréia F. , Machado-Lima Ariane , Nunes Fatima L.S. , Brentani Helena
Published: December 2023

Background

Autism Spectrum Disorder (ASD) diagnosis can be aided by approaches based on eye-tracking signals. Recently, the feasibility of building Visual Attention Models (VAMs) from features extracted from visual stimuli and their use for classifying cases and controls has been demonstrated using Neural Networks and Support Vector Machines. The present work has three aims: 1) to evaluate whether the trained classifier from the previous study was generalist enough to classify new samples with a new stimulus; 2) to replicate the previously approach to train a new classifier with a new dataset; 3) to evaluate the performance of classifiers obtained by a new classification algorithm (Random Forest) using the previous and the current datasets.

Methods

The previously approach was replicated with a new stimulus and new sample, 44 from the Typical Development group and 33 from the ASD group. After the replication, Random Forest classifier was tested to substitute Neural Networks algorithm.

Results

The test with the trained classifier reached an AUC of 0.56, suggesting that the trained classifier requires retraining of the VAMs when changing the stimulus. The replication results reached an AUC of 0.71, indicating the potential of generalization of the approach for aiding ASD diagnosis, as long as the stimulus is similar to the originally proposed. The results achieved with Random Forest were superior to those achieved with the original approach, with an average AUC of 0.95 for the previous dataset and 0.74 for the new dataset.

Conclusion

In summary, the results of the replication experiment were satisfactory, which suggests the robustness of the approach and the VAM-based approaches feasibility to aid in ASD diagnosis. The proposed method change improved the classification performance. Some limitations are discussed and additional studies are encouraged to test other conditions and scenarios.
An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report
Authors: Dantsev Ilya S , Parfenenko Mariia A , Radzhabova Gulnara M , Nikolaeva Ekaterina A
Published: December 2023

Osteoporosis is a systemic, multifactorial disorder of bone mineralization. Many factors contributing to the development of osteoporosis have been identified so far, including gender, age, nutrition, lifestyle, exercise, drug use, as well as a range of comorbidities. In addition to environmental and lifestyle factors, molecular genetic factors account for 50–85% of osteoporosis cases. For example, the vitamin D receptor (VDR), collagen type I (COL1), estrogen receptor (ER), apolypoprotein Е (ApoE), bone morphogenetic protein (BMP), and Low-density lipoprotein receptor-related protein 5 (LRP5) are all involved in the pathogenesis of osteoporosis. Among the candidate genes, the pathogenic variants in which are involved in the pathogenesis of osteoporosis is FGFR2. Additionally, FGFs/FGFRs-dependent signaling has been shown to regulate skeletal development and has been linked to a plethora of heritable disorders of the musculoskeletal system. In this study we present the clinical, biochemical and radiological findings, as well as results of molecular genetic testing of a 13-year-old male proband with heritable osteoporosis, arthralgia and multiple fractures and a family history of abnormal bone mineralization and fractures. Whole exome sequencing found a heterozygous previously undescribed variant in the FGFR2 gene (NM_000141.5) (GRCh37.p13 ENSG00000066468.16: g.123298133dup; ENST00000358487.5:c.722dup; ENSP00000351276.5:p.Asn241LysfsTer43). The same variant was found in two affected relatives. These data lead us to believe that the variant in FGFR2 found in our proband and his relatives could be related to their phenotype. Therefore, modern methods of molecular genetic testing can allow us to differentiate between osteogenesis imperfecta and other bone mineralization disorders.
Structural characterization of SLYM—a 4th meningeal membrane
Authors: Plá Virginia , Bitsika Styliani , Giannetto Michael J , Ladron-de-Guevara Antonio , Gahn-Martinez Daniel , Mori Yuki , Nedergaard Maiken , Møllgård Kjeld
Published: December 2023

Traditionally, the meninges are described as 3 distinct layers, dura, arachnoid and pia. Yet, the classification of the connective meningeal membranes surrounding the brain is based on postmortem macroscopic examination. Ultrastructural and single cell transcriptome analyses have documented that the 3 meningeal layers can be subdivided into several distinct layers based on cellular characteristics. We here re-examined the existence of a 4th meningeal membrane, Subarachnoid Lymphatic-like Membrane or SLYM in Prox1-eGFP reporter mice. Imaging of freshly resected whole brains showed that SLYM covers the entire brain and brain stem and forms a roof shielding the subarachnoid cerebrospinal fluid (CSF)-filled cisterns and the pia-adjacent vasculature. Thus, SLYM is strategically positioned to facilitate periarterial influx of freshly produced CSF and thereby support unidirectional glymphatic CSF transport. Histological analysis showed that, in spinal cord and parts of dorsal cortex, SLYM fused with the arachnoid barrier layer, while in the basal brain stem typically formed a 1–3 cell layered membrane subdividing the subarachnoid space into two compartments. However, great care should be taken when interpreting the organization of the delicate leptomeningeal membranes in tissue sections. We show that hyperosmotic fixatives dehydrate the tissue with the risk of shrinkage and dislocation of these fragile membranes in postmortem preparations.
Study of the curative effect of Zhang’s Xibi formula and its underlying mechanism involving inhibition of inflammatory responses and delay of knee osteoarthritis
Authors: Sun Qi , Jin Hongting , Li Wuyin , Tong Peijian , Yuan Wenhua
Published: December 2023

Objective

To verify the clinical efficacy of Zhang’s Xibi formula (ZSXBF) and explain the mechanism underlying its therapeutic effect.

Methods

Preliminary elucidation of the clinical efficacy of ZSXBF in treating KOA in self-control studies, exploration of its mechanism of action with network pharmacology methods, and validation in animal experiments.

Results

In clinical studies, ZSXBF administration effectively improved patient quality of life and reduce pain. Network pharmacology was used to explore the possible mechanisms underlying its treatment effect, and after verification in clinical experience and animal experiments, it was found that ZSXBF regulated the expression of immune-related proteins such as IL-17, ERK1, and TP53 in mouse knee joints.

Conclusion

ZSXBF, which is a traditional Chinese medicine compound that is used to clear heat and detoxify, can effectively improve the clinical symptoms of KOA patients, and its underlying mechanism includes the regulation of human immune-related proteins.
Methodological quality of systematic reviews in dentistry including animal studies: a cross-sectional study
Authors: Menne Max C. , Su Naichuan , Faggion Clovis M.
Published: December 2023

Background

The overall confidence in the results of systematic reviews including animal models can be heterogeneous. We assessed the methodological quality of systematic reviews including animal models in dentistry as well as the overall confidence in the results of those systematic reviews.

Material & methods

PubMed, Web of Science and Scopus were searched for systematic reviews including animal studies in dentistry published later than January 2010 until 18th of July 2022. Overall confidence in the results was assessed using a modified version of the A MeaSurement Tool to Assess systematic Reviews (AMSTAR-2) checklist. Checklist items were rated as yes, partial yes, no and not applicable. Linear regression analysis was used to investigate associations between systematic review characteristics and the overall adherence to the AMSTAR-2 checklist. The overall confidence in the results was calculated based on the number of critical and non-critical weaknesses presented in the AMSTAR-2 items and rated as high, moderate, low and critical low.

Results

Of initially 951 retrieved systematic reviews, 190 were included in the study. The overall confidence in the results was low in 43 (22.6%) and critically low in 133 (70.0%) systematic reviews. While some AMSTAR-2 items were regularly reported (e.g. conflict of interest, selection in duplicate), others were not (e.g. funding: n = 1; 0.5%). Multivariable linear regression analysis showed that the adherence scores of AMSTAR-2 was significantly associated with publication year, journal impact factor (IF), topic, and the use of tools to assess risk of bias (RoB) of the systematic reviews.

Conclusion

Although the methodological quality of dental systematic reviews of animal models improved over the years, it is still suboptimal. The overall confidence in the results was mostly low or critically low. Systematic reviews, which were published later, published in a journal with a higher IF, focused on non-surgery topics, and used at least one tool to assess RoB correlated with greater adherence to the AMSTAR-2 guidelines.
Identification of ACBD3 as a new molecular biomarker in pan-cancers through bioinformatic analysis: a preclinical study
Authors: Ma Xinyue , Huang Shu , Shi Huiqin , Luo Rui , Luo Bei , Tan Zhenju , Shi Lei , Zhang Wei , Yang Weixing , Zhong Xiaolin , Lü Muhan , Chen Xia , Tang Xiaowei
Published: December 2023

Background

Acyl-CoA-binding domain-containing 3 (ACBD3) is a multifunctional protein, that plays essential roles in cellular signaling and membrane domain organization. Although the precise roles of ACBD3 in various cancers remain unclear. Thus, we aimed to determine the diverse roles of ACBD3 in pan-cancers.

Methods

Relevant clinical and RNA-sequencing data for normal tissues and 33 tumors from The Cancer Genome Atlas (TCGA) database, the Human Protein Atlas, and other databases were applied to investigate ACBD3 expression in various cancers. ACBD3-binding and ACBD3-related target genes were obtained from the STRING and GEPIA2 databases. The possible functions of ACBD3-binding genes were explored using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. We also applied the diagnostic value and survival prognosis analysis of ACBD3 in pan-cancers using R language. The mutational features of ACBD3 in various TCGA cancers were obtained from the cBioPortal database.

Results

When compared with normal tissues, ACBD3 expression was statistically upregulated in eleven cancers and downregulated in three cancers. ACBD3 expression was remarkably different among various pathological stages of tumors, immune and molecular subtypes of cancers, cancer phosphorylation levels, and immune cell infiltration. The survival of four tumors was correlated with the expression level of ACBD3, including pancreatic adenocarcinoma, adrenocortical carcinoma, sarcoma, and glioma. The high accuracy in diagnosing multiple tumors and its correlation with prognosis indicated that ACBD3 may be a potential biomarker of pan-cancers.

Conclusion

According to our pan-cancer analysis, ACBD3 may serve as a remarkable prognostic and diagnostic biomarker of pan-cancers as well as contribute to tumor development. ACBD3 may also provide new directions for cancer treatment targets in the future.
Effectiveness and safety of different doses of febuxostat compared with allopurinol in the treatment of hyperuricemia: a meta-analysis of randomized controlled trials
Authors: Xie Hong , Hu Nan , Pan Ting , Wu Jun-Cai , Yu Miao , Wang Deng-Chao
Published: December 2023

Background

The prevalence of hyperuricemia has increased steadily with the continuous improvement of living standards. Some studies have reported the clinical effectiveness and safety of different doses of febuxostat in comparison with allopurinol in hyperuricemia treatment, but the sample sizes of the studies have been small, and the results have been inconsistent. We designed this meta-analysis to evaluate the effectiveness and safety of different doses of febuxostat compared with allopurinol in the treatment of hyperuricemia.

Methods

The Cochrane Library, Embase, PubMed, Web of Science and ClinicalTrials.gov databases were searched to identify randomized controlled trials (RCTs) comparing the use of febuxostat and allopurinol for the treatment of hyperuricemia. The effectiveness and safety of different doses of febuxostat and allopurinol in treating hyperuricemia were assessed using meta-analysis.

Results

A total of 11 randomized controlled trials were included in the meta-analysis. The results of the meta-analysis showed that the percentage of patients achieving serum uric acid levels of 6.0 mg/dL or less was higher among patients taking febuxostat (80 mg/d) than among patients taking allopurinol (200–300 mg/d) [RR = 1.79, 95% CI (1.55, 2.08), P < 0.00001]. However, there was no statistically significant difference in the percentage of patients achieving serum uric acid levels of 6.0 mg/dL or less between febuxostat (40 mg/d) and allopurinol (200–300 mg/d) [RR = 1.10, 95% CI (0.93, 1.31), P = 0.25]. There was also no statistically significant difference in the incidence of gout between the febuxostat (40 mg/d) and allopurinol (200–300 mg/d) [RR = 0.97, 95% CI (0.64, 1.49), P = 0.91] or between the febuxostat (80 mg/d) and allopurinol (200–300 mg/d) [RR = 1.13, 95% CI (0.81, 1.58), P = 0.48].No significant difference in the incidence of major adverse reactions as observed between the febuxostat (40 mg/d) and allopurinol (200–300 mg/d) [RR = 1.16; 95% CI (0.43, 3.16), P = 0.77] or between the febuxostat (80 mg/d) and allopurinol (200–300 mg/d) [RR = 1.06; 95% CI (0.79, 1.42), P = 0.70]. The incidence of adverse cardiovascular events did not differ significantly between the febuxostat (40 mg/d) and allopurinol (200–300 mg/d) [RR = 1.30; 95% CI (0.57, 2.95), P = 0.53] or between the febuxostat (80 mg/d) and allopurinol (200–300 mg/d) [RR = 1.79; 95% CI (0.74, 4.32), P = 0.20].

Conclusions

Febuxostat (80 mg/d) was associated with a higher percentage of patients achieving serum uric acid levels of 6.0 mg/dL or less than allopurinol (200–300 mg/d), however, febuxostat (80 mg/d) did not exhibit better efficacy in reducing the incidence of gout. More attention should be devoted to the adverse reactions caused by an increase in febuxostat doses.
Adaptive overcurrent protection scheme coordination in presence of distributed generation using radial basis neural network
Authors: Uma Uma Uzubi , Nmadu Daniel , Ugwuanyi Nnaemeka , Ogah Ogah Ekechi , Eli-Chukwu Ngozi , Eheduru Marcellinus , Ekwue Arthur
Published: December 2023

The operational performance of conventional overcurrent protection relay coordination connected to a distribution network is adversely affected by the penetration of distributed generators (DG) at different buses in the network. To address this problem, this paper proposes a novel adaptive protection coordination scheme using a radial basis function neural network (RBFNN), which automatically adjusts the overcurrent relay settings, i.e., time setting multiplier (TSM) and plug setting multiplier (PSM) based on the penetration of DGs. Short circuit currents and voltages measured at different buses are acquired using the remote terminal units (RTU) connected to different buses within the terminal network. Communication between the various remotes and local end station RTUs is through hybrid communication systems of fiber optic and power line communication system modules. The new adaptive overcurrent protection scheme is applied to the IEEE 33-bus distribution network with and without DGs, for single and multi-DG penetration using both the ETAP and MATLAB software. The simulation results show the proposed scheme significantly improves the protection coordination.
Acoustic metascreen for broadband wavefront manipulation with stationary phase gradients
Authors: Liu Chen , Wang Nengyin , Gu Zhongming , Li Yong , Zhu Jie
Published: December 2023

The development of an efficient acoustic metascreen utilizing artificial micro-structured metamaterials holds paramount importance for the manipulation of acoustic wavefronts. However, the expansive broadband capability of such metascreens is often compromised due to the variations in amplitude and phase profiles of the conceived structures at different frequencies. To address this issue, we introduce a broadband metascreen composed of several interconnected acoustic cavities. The concept is substantiated by the theoretical explication of the abrupt cross-section tube model. The resultant metascreen demonstrates high transmission efficiency and maintains a consistent phase profile over a wide frequency band, which implies that the relative phase disparities amongst neighboring pixels are retained at uniform intervals across the entire frequency spectrum, enabling the distinct broadband functionality of the metascreens developed. Through both simulations and experimental measurements, we exhibit the ability of the metascreen to manipulate the wavefront of transmitted waves, accomplishing acoustic focusing and self-bending across multiple frequencies. Our research paves the way for a novel and multifunctional method to manipulate broadband wavefronts through transmissive grooved acoustic metamaterial, offering a practical and promising methodology to develop advanced acoustic apparatuses.
Geology, Power, and the Planetary
Authors: Whitington Jerome , Oguz Zeynep
Published: December 2023

What conditions of possibility have emerged for learning to live on a new earth? This special section builds on scholarship in the environmental humanities, critical Black studies, and geophilosophy to explore how emergent ways of becoming human are forged in relation to powerful earth dynamics, even while earth’s powers are constitutive of contemporary forms of domination. Geologizing Sylvia Wynter’s understanding of being human as a praxis, it proposes that earth as praxis (a) provides a diagnosis of the deeply embedded forms of power that have been materialized, over several centuries, in the earthly conditions of life itself; and (b) represents a critical potential for creating new ways to live on earth through the practical exploration of geosocial relations. We highlight three modes of earth praxis. Inhuman territorializations calls attention to the landscapes and earthy matter subjected to racializing and territorializing modes of power. In turn, such practices participate in the constitution of dehumanized, racialized, and dispossessed bodies and peoples. Becoming geological refers to the ways human forms of living have become shot through with earth system dynamics, mineralogical relations, and energetic possibilities, to the extent that people cannot be who they are without these pervasive anthropogenic geologies. Finally, planetary predicaments helps diagnose the politically vital and collective but deeply unequal and nonhomogeneous conditions of the present. Earth as praxis offers an analytical grip on emerging planetary earth relations that breaks with abstract, universalizing categories, and is capable of diagnosing the wide range of today’s violent, creative, and liberatory planetary practices.
Consolations of the Earth
Authors: Whitington Jerome
Published: December 2023

This article looks toward nineteenth-century earth sciences with attention to their humanistic themes. In the early decades of the century, multiple lines of evidence concretized a humanistic experience of man as a finite being with a contingent and accidental planetary existence. Geological humanism refers to the way that themes of earthly existence routinely influenced the status and meaning of being human, culturally and within the sciences, with the collapse of Enlightenment aesthetics of symmetry, purpose, and order in the late eighteenth century. While earth sciences recast humanistic themes in empirical terms, by the latter half of the nineteenth century scientists also regularly articulated prophecies of secular extinction or demise that were resolved, but only partly, both with reference to a long-standing racial schema and through routine consolations that a planet modified by human activity would be a better earth. Coal played a particular role in mediating between earth and atmosphere, mineral and life, and matter and energy. This article details several of these secular consolations offered to popular audiences by prominent climate scientists to show that the earth was far from being understood as a stable domain of nature that could be taken for granted.
Stanford University School of Medicine: Our Neurosurgical Heritage
Authors: Veeravagu Anand , Kim Lily H. , Rao Vaishnavi L. , Lim Michael , Shuer Lawrence M. , Harris Odette A. , Steinberg Gary K.
Published: December 2023

The legacy of Stanford University's Department of Neurosurgery began in 1858, with the establishment of a new medical school on the West Coast. Stanford Neurosurgery instilled an atmosphere of dedication to neurosurgical care, scientific research, education, and innovation. We highlight key historical events leading to the formation of the medical school and neurosurgical department, the individuals who shaped the department's vision and expansion, as well as pioneering advances in research and clinical care. The residency program was started in 1961, establishing the basis of the current education model with a strong emphasis on training future leaders, and the Moyamoya Center, founded in 1991, became the largest Moyamoya referral center in the United States. The opening of Stanford Stroke Center (1992) and seminal clinical trials resulted in a significant impact on cerebrovascular disease by expanding the treatment window of IV thrombolysis and intra-arterial thrombectomy. The invention and implementation of CyberKnife® (1994) marks another important event that revolutionized the field of radiosurgery, and the development of Stanford's innovative Brain Computer Interface program is pushing the boundaries of this specialty. The more recent launch of the Neurosurgery Virtual Reality and Simulation Center (2017) exemplifies how Stanford is continuing to evolve in this ever-changing field. The department also became a model for diversity within the school as well as nationwide. The growth of Stanford Neurosurgery from one of the youngest neurosurgery departments in the country to a prominent comprehensive neurosurgery center mirrors the history of neurosurgery itself: young, innovative, and willing to overcome challenges.
INOVAÇÃO E PADRONIZAÇÃO
Authors: Silva Welbert Luiz , Da Silva Silvio Bitencourt , Bagno Raoni Barros
Published: December 2023

Estudos sobre inovação e padronização não são recentes, mas ganharam atenção nos últimos anos com a publicação da ISO 56002:2019. Nesse sentido, este artigo apresenta uma revisão sistemática da literatura com o objetivo de caracterizar a produção bibliográfica referente à inovação e à padronização, gerando a descrição dos níveis, as áreas e os temas de pesquisa nas organizações. Para desenvolver essa revisão, foram extraídos da base de dados Scopus 706 artigos, sendo destacados 166 artigos que expressam o contexto atual em três agrupamentos interdependentes: padrões de gestão, gestão interna, produtos e serviços. Em síntese, duas são as implicações deste artigo. A primeira associada à organização e à compreensão dos diversos níveis, áreas e temas que compõem o debate de padronização e inovação. A segunda diz respeito às lacunas identificadas nos estudos analisados que contemplam uma abordagem sistemática da gestão da inovação. Por fim, são apresentadas implicações para formuladores de políticas públicas, gestores e acadêmicos.
Fast and efficient predictions in big data systems
Authors: Μαρούλης Ευστάθιος
Published: December 2023

Την τελευταία δεκαετία, η έκρηξη στην παραγωγή δεδομένων από πηγές όπως τα social media, τα κινητά τηλέφωνα και τα δίκτυα αισθητήρων έχει ωθήσει την ανάπτυξη εφαρμογών που απαιτούν πολλά δεδομένα, συμπεριλαμβανομένων των συστημάτων συστάσεων και της πρόβλεψης κυκλοφοριακών μοτίβων. Αυτές οι εφαρμογές, που χειρίζονται δεδομένα σε κλίμακα GB ή TB, απαιτούν σημαντικούς υπολογιστικούς πόρους. Τα κατανεμημένα συστήματα επεξεργασίας μεγάλων δεδομένων όπως τα Apache Spark και Apache Flink είναι κρίσιμα στην επεξεργασία αυτών των τεράστιων όγκων δεδομένων. Ωστόσο, η βελτιστοποίηση αυτών των συστημάτων για αποτελεσματική λειτουργία των εφαρμογών και η ελαχιστοποίηση της κατανάλωσης ενέργειάς τους παρουσιάζει σημαντικές προκλήσεις. Σε αυτή την διατριβή αναπτύχθηκαν πρακτικές μεθοδολογίες για την αντιμετώπιση αυτών των προκλήσεων, εστιάζοντας στον αποδοτικό χρονοπρογραμματισμό (scheduling) εργασιών, στην ανάπτυξη μοντέλων πρόβλεψης υψηλής ακρίβειας, σε συστήματα ανίχνευσης συμβάντων και στην ενεργειακά αποδοτική χρήση πόρων.Η έρευνα αυτή περιλαμβάνει την εξέταση του τομέα του χρονοπρογραμματισμού πραγματικού χρόνου εργασιών σε κατανεμημένα συστήματα επεξεργασίας μεγάλων δεδομένων. Επικεντρώνεται επίσης στη δημιουργία ακριβών μοντέλων για την πρόβλεψη χρόνου εκτέλεσης εφαρμογών, λαμβάνοντας υπόψη τις πολυπλοκότητες όπως η ετερογένεια του περιβάλλοντος εκτέλεσης, οι παραμορφωμένες ενότητες δεδομένων και οι απαιτήσεις των εφαρμογών σε πραγματικό χρόνο, όπως ο χρόνος εκτέλεσης της εφαρμογής. Η προσέγγιση που ακολουθείται περιλαμβάνει την ανάπτυξη καινοτόμων αλγορίθμων χρονοπρογραμματισμού και ενός πρωτοποριακού συστήματος ανάλυσης (profiling). Επιπλέον, αντιμετωπίζει την πρόκληση του χρονοπρογραμματισμού εργασιών με έμφαση στην επίτευξη μετρικών απόδοσης ενώ ταυτόχρονα διαχειρίζονται συντηρητικά οι πόροι και η (ενεργειακή) κατανάλωση του συστήματος. Ένα άλλο σημαντικό επίτευγμα είναι η δημιουργία ενός συστήματος για την πρόβλεψη των μοτίβων κυκλοφορίας στην πόλη του Δουβλίνου, χρησιμοποιώντας τεχνικές Παραγοντοποίησης Πινάκων (Matrix Factorization) και εκμεταλλευόμενοι δεδομένα από αισθητήρες της πόλης. Τέλος, παρουσιάζεται ένα σύστημα που σχεδιάστηκε για την ταχεία και ακριβή παροχή συστάσεων και προβλέψεων στους χρήστες, εκμεταλλευόμενο δεδομένα από το Foursquare και χρησιμοποιώντας τεχνικές Παραγοντοποίησης Τανυστών (Tensor Factorization) για να προτείνει Σημεία Ενδιαφέροντος που προσαρμόζονται στις προτιμήσεις των χρηστών. Οι εμπειρικές αξιολογήσεις σε πραγματικά σύνολα δεδομένων αποδεικνύουν την αποτελεσματικότητα αυτών των μεθοδολογιών στη βελτίωση του χρονοπρογραμματισμού εργασιών, της πρόβλεψης της κυκλοφορίας και των συστημάτων συστάσεων, συμβάλλοντας σημαντικά στην προώθηση των δυνατοτήτων των διανεμημένων συστημάτων επεξεργασίας όπως το Apache Spark και το Apache Flink.
Well-being as a tool to improve productivity in existing office space: Case study in Alexandria, Egypt
Authors: Hamadah Miral , ElSeragy Ahmed , ElDeeb Sally
Published: December 2023

Background The green building industry has significantly impacted the construction market, providing various sustainable solutions for the community. However, conventional green building standards have yet to adequately address occupant health and well-being, leading to challenges with performance. This has caused many businesses to take note of the latest report from the Bureau of Labour Statistics, which indicated that productivity in the US has dropped by the sharpest level since the 1940s. 1 Addressing these issues, organisations like International WELL Building Institute (IWBI) developed WELL Building Rating System (WELL), prioritising occupant health and well-being as critical components for improving performance and avoiding potential vulnerabilities brought about by sickness or pandemics. For this reason, this study will explore how to improve employee productivity within office buildings by bettering their overall health and well-being. Methods A comprehensive data collection approach was employed in this paper, involving the analysis of office form evolution, and the evaluation of productivity attributes in office spaces. Resulting in identifying the top design-oriented features impacting employee productivity. Data was gathered from traditional office designs, trending successful office buildings, and the WELL Building Rating System to understand the concept of healthy building design. Results Showing thermal comfort, ventilation, and natural daylight significantly influence employees’ productivity. Implementing conducted design features from WELL achieved an average of 20.2%-35.6% decrease in thermal gain throughout the year, a 20% increase in airflow, an average 2.4%-6.5% decrease in Air temperature, enhanced temperature distribution by 7%, and direct sunlight minimum reduction by 9% in Winter and maximum 21.9% in Spring. Conclusion New design features in trending successful office buildings positively impact employee productivity. Particularly the outlined features by WELL Building Rating System led to identifying the most influential factors affecting occupant productivity. The results of this study informed recommendations for enhancing productivity in existing office buildings in Alexandria, Egypt.
Case Report: Thanatophoric dysplasia
Authors: Poudel Aakriti , Upreti Manish , Pantha Asmita
Published: December 2023

Thanatophoric dysplasia (TD) is a rare and lethal skeletal dysplasia caused by a de novo mutation in the fibroblast growth factor receptor 3 gene (FGFR3), with a frequency range of 1 in 20,000 to 50,000. We report a case of a 19-year-old primigravida from rural Nepal who presented with ultrasonographic findings suggestive of TD at 26 weeks and three days of gestation. The pregnancy was terminated due to the lethal nature of the condition. Accurate prenatal diagnosis and comprehensive counselling are paramount for families affected by this condition. This case has been reported due to its rarity, with the aim of raising awareness among healthcare professionals about this devastating condition.