bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-genome sequencing reveals the genetic mechanisms of domestication in classical inbred mice
Authors: Liu Ming , Yu Caixia , Zhang Zhichao , Song Mingjing , Sun Xiuping , Piálek Jaroslav , Jacob Jens , Lu Jiqi , Cong Lin , Zhang Hongmao , Wang Yong , Li Guoliang , Feng Zhiyong , Du Zhenglin , Wang Meng , Wan Xinru , Wang Dawei , Wang Yan-Ling , Li Hongjun , Wang Zuoxin , Zhang Bing , Zhang Zhibin 
Published: September 2022

AbstractBackgroundThe laboratory mouse was domesticated from the wild house mouse. Understanding the genetics underlying domestication in laboratory mice, especially in the widely used classical inbred mice, is vital for studies using mouse models. However, the genetic mechanism of laboratory mouse domestication remains unknown due to lack of adequate genomic sequences of wild mice.ResultsWe analyze the genetic relationships by whole-genome resequencing of 36 wild mice and 36 inbred strains. All classical inbred mice cluster together distinctly from wild and wild-derived inbred mice. Using nucleotide diversity analysis, Fst, and XP-CLR, we identify 339 positively selected genes that are closely associated with nervous system function. Approximately one third of these positively selected genes are highly expressed in brain tissues, and genetic mouse models of 125 genes in the positively selected genes exhibit abnormal behavioral or nervous system phenotypes. These positively selected genes show a higher ratio of differential expression between wild and classical inbred mice compared with all genes, especially in the hippocampus and frontal lobe. Using a mutant mouse model, we find that the SNP rs27900929 (T>C) in geneAstn2significantly reduces the tameness of mice and modifies the ratio of the twoAstn2 (a/b)isoforms.ConclusionOur study indicates that classical inbred mice experienced high selection pressure during domestication under laboratory conditions. The analysis shows the positively selected genes are closely associated with behavior and the nervous system in mice. Tameness may be related to theAstn2mutation and regulated by the ratio of the twoAstn2 (a/b)isoforms.
The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants
Authors: Becker Nicole , Sharma Aditi , Gosse Matthew , Kubat Brooke , Conway Kyle S. 
Published: September 2022

AbstractPathogenic variants in the NDUFV1 gene, which codes for complex I of the mitochondrial respiratory chain, have been associated with a variety of clinical phenotypes, including a progressive cavitating leukoencephalopathy. The neuropathology of NDUFV1-associated leukoencephalopathy is not well-described. We present a report of a 24-year-old female with two pathogenic variants in the NDUFV1 gene, together with antemortem skeletal muscle biopsy and postmortem neuropathologic examination. Autopsy neuropathology showed a cavitating leukoencephalopathy with extensive white matter involvement, regions of active demyelination, and sparing of the subcortical U-fibers. Muscle biopsy showed subtle but distinct histologic abnormalities by light microscopy, and ultrastructural analysis demonstrated mitochondrial abnormalities including abnormal subsarcolemmal mitochondrial accumulation, electron-dense inclusions, and enlarged mitochondria with abnormal cristae. Our report is the first comprehensive description of the neuropathology in a patient with compound heterozygous variants in the NDUFV1 gene and progressive cavitating leukoencephalopathy. This case is evidence of pathogenicity of one NDUFV1 variant (c.565 T > C, p.S189P), which has not been previously described as pathogenic. These findings, in combination with the ultrastructural abnormalities in the mitochondria by electron microscopy, support the mitochondrial nature of the pathology. Together, this case highlights the link between mitochondrial abnormalities and demyelinating processes in the central nervous system (CNS).
Applying mixed methods to pilot feasibility studies to inform intervention trials
Authors: Aschbrenner Kelly A. , Kruse Gina , Gallo Joseph J. , Plano Clark Vicki L. 
Published: September 2022

AbstractBackgroundPilot feasibility studies serve a uniquely important role in preparing for larger scale intervention trials by examining the feasibility and acceptability of interventions and the methods used to test them. Mixed methods (collecting, analyzing, and integrating quantitative and qualitative data and results) can optimize what can be learned from pilot feasibility studies to prepare rigorous intervention trials. Despite increasing use of mixed method designs in intervention trials, there is limited guidance on how to apply these approaches to address pilot feasibility study goals. The purpose of this article is to offer methodological guidance for how investigators can plan to integrate quantitative and qualitative methods within pilot feasibility studies to comprehensively address key research questions.MethodsWe used an informal consensus-based process informed by key methodological resources and our team’s complementary expertise as intervention researchers and mixed methodologists to develop guidance for applying mixed methods to optimize what can be learned from pilot feasibility studies. We developed this methodological guidance as faculty in the Mixed Methods Research Training Program (MMRTP) for the Health Sciences (R25MH104660) funded by the National Institutes of Health through the Office of Behavioral and Social Science Research.ResultsWe provide the following guidance for applying mixed methods to optimize pilot feasibility studies: (1) identify feasibility domain(s) that will be examined using mixed methods, (2) align quantitative and qualitative data sources for the domain(s) selected for mixing methods, (3) determine the timing of the quantitative and qualitative data collection within the flow of the pilot study, (4) plan integrative analyses using joint displays to understand feasibility, and (5) prepare to draw meta-inferences about feasibility and implications for the future trial from the integrated data.ConclusionsBy effectively integrating quantitative and qualitative data within pilot feasibility studies, investigators can harness the potential of mixed methods for developing comprehensive and nuanced understandings about feasibility. Our guidance can help researchers to consider the range of key decisions needed during intervention pilot feasibility testing to achieve a rigorous mixed methods approach generating enhanced insights to inform future intervention trials.
Imatinib inhibits pericyte-fibroblast transition and inflammation and promotes axon regeneration by blocking the PDGF-BB/PDGFRβ pathway in spinal cord injury
Authors: Yao Fei , Luo Yang , Liu Yan-Chang , Chen Yi-Hao , Li Yi-Teng , Hu Xu-Yang , You Xing-Yu , Yu Shui-Sheng , Li Zi-Yu , Chen Lei , Tian Da-Sheng , Zheng Mei-Ge , Cheng Li , Jing Jue-Hua 
Published: September 2022

Abstract
Background
Fibrotic scar formation and inflammation are characteristic pathologies of spinal cord injury (SCI) in the injured core, which has been widely regarded as the main barrier to axonal regeneration resulting in permanent functional recovery failure. Pericytes were shown to be the main source of fibroblasts that form fibrotic scar. However, the mechanism of pericyte-fibroblast transition after SCI remains elusive.

Methods
Fibrotic scarring and microvessels were assessed using immunofluorescence staining after establishing a crush SCI model. To study the process of pericyte-fibroblast transition, we analyzed pericyte marker and fibroblast marker expression using immunofluorescence. The distribution and cellular origin of platelet-derived growth factor (PDGF)-BB were examined with immunofluorescence. Pericyte-fibroblast transition was detected with immunohistochemistry and Western blot assays after PDGF-BB knockdown and blocking PDGF-BB/PDGFRβ signaling in vitro. Intrathecal injection of imatinib was used to selectively inhibit PDGF-BB/PDGFRβ signaling. The Basso mouse scale score and footprint analysis were performed to assess functional recovery. Subsequently, axonal regeneration, fibrotic scarring, fibroblast population, proliferation and apoptosis of PDGFRβ+ cells, microvessel leakage, and the inflammatory response were assessed with immunofluorescence.

Results
PDGFRβ+ pericytes detached from the blood vessel wall and transitioned into fibroblasts to form fibrotic scar after SCI. PDGF-BB was mainly distributed in the periphery of the injured core, and microvascular endothelial cells were one of the sources of PDGF-BB in the acute phase. Microvascular endothelial cells induced pericyte-fibroblast transition through the PDGF-BB/PDGFRβ signaling pathway in vitro. Pharmacologically blocking the PDGF-BB/PDGFRβ pathway promoted motor function recovery and axonal regeneration and inhibited fibrotic scar formation. After fibrotic scar formation, blocking the PDGFRβ receptor inhibited proliferation and promoted apoptosis of PDGFRβ+ cells. Imatinib did not alter pericyte coverage on microvessels, while microvessel leakage and inflammation were significantly decreased after imatinib treatment.

Conclusions
We reveal that the crosstalk between microvascular endothelial cells and pericytes promotes pericyte-fibroblast transition through the PDGF-BB/PDGFRβ signaling pathway. Our finding suggests that blocking the PDGF-BB/PDGFRβ signaling pathway with imatinib contributes to functional recovery, fibrotic scarring, and inflammatory attenuation after SCI and provides a potential target for the treatment of SCI.
Child Marriage Acceptability Index (CMAI) as an essential indicator: an investigation in South and Central Sulawesi, Indonesia
Authors: Ratnaningsih Muliani , Wibowo Heribertus Rinto , Goodwin Nicholas J. , Rezki Ade Ayu Kartika Sari , Ridwan R. , Hadyani Ratnakanya Nitya , Minnick Emilie , Ulum Derry Fahrizal , Kostaman Tanti Kosmiyati , Faizah Sitti Nur 
Published: September 2022

Abstract
Background
Child marriage remains an important social issue in Indonesia. Child marriages were reported from 14.67% in 2008 to 10.82% in 2019. However, 22 out of 34 provinces in Indonesia still had high child marriage rates above the national average in 2019. This study aims to assess child marriage acceptability in the two locations in Indonesia by gender inequality, financial security, education rates, legal frameworks, dowry, and sexual and gender-based violence (SGBV).

Methods
This study used a quantitative approach with a cross-sectional study design. A total of 1000 respondents consisting of 500 households in Bone District, South Sulawesi and 500 households in Palu, Sigi, and Donggala District in Central Sulawesi participated in the study. Data analyses were conducted based on the Child Marriage Acceptability Index (CMAI) using the bivariate correlation, ANOVA (analysis of variance), and logistic regression.

Results
This study found several significant factors that contributed to child marriage acceptance in Central and South Sulawesi: household financial security (p = 0.016), dowry (p < 0.001) and legal frameworks (p = 0.017) based on ANOVA analysis. After conducting a bivariate correlation, dowry (p < 0.001) and sexual and gender-based violence (p < 0.001) remain significant factors. Dowry (p < 0.001), with expected B = 0.122, and sexual and gender-based violence (p < 0.001, with expected B = 0.064) remains significant after the linear regression analysis.

Conclusions
Dowry practice and sexual and gender-based violence were the most significant factors contributing to child marriage acceptance in Central and South Sulawesi. There is a need to conduct interventions to prevent child marriage, including providing sexual and reproductive health education.
A case study of the construction of inter-embedded multi-ethnic community of urban migrants in Nanyang
Authors: Sun Qiang , Liu Dongxu 
Published: September 2022

AbstractAs the domestic interprovincial migrants, Uygur traders have been engaged in the Hetian jade trade from Xinjiang Uygur Autonomous Region to the city of Nanyang in Henan Province. Having lived in the private rented houses around the market in the early days, they moved into the government-built public rental housing in 2017, an independently managed community. They have maintained their past residential pattern of living around the market, and gradually develop the community into an inter-embedded multi-ethnic community together with other ethnic groups. Through the history of the formation of the Uygur community in Nanyang Stone Town, this paper presents the process of interaction between the ethnic minority migrants and the local community, examines the responses and influence of the market, society, government, and individuals in this process, aiming to understand how the minority community was formed, to deepen understanding of the “inter-embedded multi-ethnic community", and, in turn, to promote research and reflection on the development of the ethnic community during urbanization in China. This study suggests that such communities surrounding the market are socially extended based on inter-embedded livelihood. The open national market is the core of the social structure of inter-embedded ethnic groups, and market exchange is one of the main relations generated in the current interactions between the ethnic groups. The government’s efforts to build inter-embedded communities are conducive to transforming the relationships among ethnic groups from limited interaction to comprehensive and balanced development. Moreover, the improvement of common living environments and increase in exchanges are conducive to upgrading interactions between individuals to extensive and in-depth exchanges among different ethnic groups.
Retention index of FDG-PET/CT SUVmax of the primary tumor in non-small cell lung cancer as a predictor of lymph node metastasis: a retrospective study
Authors: Ema Toshinari , Kojima Hideaki , Mizuno Shinji , Hirai Tatsuo , Oka Mikako , Neyatani Hiroshi , Funai Kazuhito , Shiiya Norihiko 
Published: September 2022

Abstract
Background
Accurate staging of non-small cell lung cancer is key in treatment planning and prediction of prognosis. We investigated the correlation between the maximum standardized uptake value (SUVmax) retention index (RI) of the primary tumor and lymph node metastasis in non-small cell lung carcinoma. We also evaluated the tendencies according to the histological types.

Methods
We retrospectively evaluated 218 non-small cell lung cancer (NSCLC) tumors from 217 patients who underwent preoperative fluorodeoxyglucose-positron emission tomography/computed tomography (PET/CT) followed by lung surgery and lymph node resection between July 2015 and August 2020. All primary tumors were calculated as the SUVmax at 50 min (SUVmaxearly [SUVmaxe]) and 120 min (SUVmaxdelayed [SUVmaxd]), and RI. The clinicopathological factors of interest were compared based on lymph node metastasis status and NSCLC histopathological subtype.

Results
The median SUVmaxe and SUVmaxd of the primary tumors were 3.3 and 4.2, respectively, and the median RI was 0.25. The RI was significantly higher in the pN(+) (n = 44) group (0.30) compared to the pN0 (n = 174) group (0.24) (p = 0.01). In patients with adenocarcinoma (n = 145), the RI was also significantly higher in the pN(+) (n = 29) group (0.29) compared to the pN0 (n = 116) group (0.16) (p < 0.01). A high RI of the primary tumor was an independent risk factor for lymph node metastasis, particularly in patients with adenocarcinoma (odds ratio: 12.30, p < 0.05).

Conclusions
The RI of primary NSCLC tumors can help predict lymph node metastases, particularly in patients with adenocarcinoma.
Efficacy and safety of JAK inhibitors in the treatment of psoriasis and psoriatic arthritis: a systematic review and meta-analysis
Authors: Sarabia Samantha , Ranjith Brandan , Koppikar Sahil , Wijeratne Don Thiwanka 
Published: September 2022

Abstract
Background
JAK inhibitors are a relatively new class of medications that may be useful in the treatment of moderate-to-severe psoriasis and psoriatic arthritis (PsA). The objective of this study was to determine the efficacy of several JAK inhibitors in treating psoriasis and PsA and examine safety concerns.

Methods
MEDLINE, Cochrane and EMBASE were searched for randomized controlled trials and observational studies comparing any JAK inhibitor to placebo. The primary outcomes were a 75% improvement in the Psoriasis Area and Severity Index (PASI75) and a 20% improvement in the American College of Rheumatology composite score (ACR20). A secondary outcome was the proportion of patients achieving a “0” or “1” on the static Physician Global Assessment scale. Odds ratios were used to compare the proportion of patients reaching these targets in the max dose intervention group vs. the placebo group. A random effects model was used to account for heterogeneity.

Results
In total, 15 RCTs were included in the study and no observational studies. This encompassed 6757 patients in total. When the results were combined, the calculated odds ratio for PASI75 amongst tofacitinib vs. placebo was OR 14.35 [95%CI 7.65, 26.90], for PASI75 amongst non-tofacitinib JAK inhibitors vs. placebo it was OR 6.42 [95%CI 4.89, 8.43], for ACR20 amongst all JAK inhibitors versus placebo was OR 5.87 [95%CI 4.39, 7.85]. There was no significant difference in prevalence of serious adverse events between intervention and control in any of these studies.

Conclusion
JAK inhibitors show promise for safely treating moderate-to-severe psoriasis and psoriatic arthritis.
One of the 5-aminosalicylates drug, mesalamine as a drug repurposing lead against breast cancer
Authors: Swami Dayanand , Siddiqui Shafina , Kumar Urwashi , Devarajan Shine , Aich Jyotirmoi 
Published: September 2022

Abstract
Background
Breast cancer is the world's second leading cause of death in women. The problem of chemoresistance in breast cancer is proving to be a challenge for researchers and several oncologists all around the world. Current treatment modalities are associated with severe toxicities and lower efficiency. Hence, there is an unmet need for the development of novel drugs that can be used as adjuvants in breast chemotherapy. One of the strategies used to overcome this problem and that has received scientific coverage over the years is ‘Drug Repurposing’. For this purpose, a list of 5-aminosalicylates drugs were evaluated for their drug repurposing potential in breast cancer. Mesalamine, sulfasalazine, balsalazide, and olsalazine were docked with high expression signatures in cancer cells such as EGFR (epidermal growth factor receptor), ERα (Estrogen Receptor alpha), Aromatase, mTOR (mammalian target of rapamycin), ALOX5 (Arachidonate 5-lipoxygenase), and Topoisomerase II.

Results
Docking analysis revealed that the selected ligands (drug) exhibited good binding affinity for all receptors. Based on the specificity with receptors, mesalamine was further selected for in vitro functional validation in a breast cancer cell line. Cell-based cytotoxicity assay in MCF-7 (Michigan Cancer Foundation-7) cells demonstrated the anticancer potential of mesalamine in breast cancer with IC-50 (Inhibitory Concentration) of 6.358 µM.

Conclusions
Significant morphological alterations were observed in breast cells treated with mesalamine. Further studies are warranted to explore the anticancer effect of mesalamine in breast cancer and its role in combination therapies to be used as an adjuvant in chemotherapy.
Cap-snatching inhibitors of influenza virus are inhibitory to the in vitro transcription of rice stripe virus
Authors: Lin Wenzhong , Zha Qingchen , Zhang Wenwen , Wu Guanwei , Yan Fei , Wu Zujian , Du Zhenguo 
Published: September 2022

AbstractRice stripe virus (RSV) is one of the most important viral pathogens of rice in East Asia. The transcription of RSV is initiated by cap-snatching, a mechanism shared by influenza virus (IFV). This lends the possibility that antiviral compounds targeting the cap-snatching of IFV, many of which have been commercially available, may inhibit RSV transcription. A convenient and inexpensive system allowing researchers to test this idea, however, has been unavailable to date. Here, we show that purified RSV performs transcription in vitro and the transcription was readily detectable by nested reverse transcription-polymerase chain reaction (RT-PCR). With this system, we tested the effects of 2,4-dioxo-4-phenylbutanoic acid (DPBA) and pimodivir, two well-known IFV cap-snatching inhibitors, as well as ribavirin, a broad-spectrum antiviral compound whose targets remain elusive. In reaction mixtures containing 2.5 ng/µL of purified RSV, DPBA and pimodivir abolished RSV transcription at a concentration of 10 and 100 µM, respectively. In contrast, no inhibitory effect was detected from ribavirin, even at a concentration as high as 400 µM. These results suggest that at least some cap-snatching inhibitors of IFV are inhibitory to RSV transcription. These compounds, which can be identified with the experimental system described here, may serve as starting points in developing antivirals against RSV or related plant viruses.
Long-term outcomes and prognosis factors of vagus nerve stimulation in patients with refractory epilepsy
Authors: Xu Cuiping , Lin Hua , Xu Jiwen , Zhang Xiaohua , Hao Guiliang , Liu Qiang Qiang , Ding Chengyun , Wang Shan , Zhao Quanjun , Bai Xiaojun , Chen Kui , Ni Duanyu , Li Yongjie , Yu Tao , Wang Yuping 
Published: September 2022

Abstract
Background
Vagus nerve stimulation (VNS) is an effective treatment for patients with refractory epilepsy, yet with varied predictive factors and heterogeneous long-term outcomes. Adjustment of VNS parameters is critical for obtaining favorable efficacy. In this study, we aimed to investigate the long-term outcomes and the possible predictive factors of VNS in patients with refractory epilepsy.

Methods
Eighty-six patients (59 males and 27 females) who underwent VNS implantation for treatment of refractory epilepsy between May 2016 and May 2017 at five Epilepsy Centers were enrolled. The clinical data, including sex, age at epilepsy onset, VNS implantation, epilepsy duration, seizure type, MRI findings, history of neurosurgical operations, and responder rate (responders were those with ≥50% seizure reduction), were analyzed.

Results
Four-year follow-up data were available for 76 patients (53 males and 23 females). The mean current intensity at the last follow-up was 1.8 ± 0.3 mA (range: 0.75–2.5 mA). The mean seizure reduction was 36.2% at 6 months, 38.5% at 1 year, 69.4% at 3 years, and 56.7% at 4 years. A favorable outcome of ≥50% reduction in seizure frequency occurred in 40.0% of the patients at 6 months, 55.9% at 1 year with 4 patients being seizure-free, 63.2% at 3 years with 5 patients being seizure-free, and 68.4% at 4 years with 5 patients being seizure-free. Earlier onset age (P < 0.001) and shorter duration (P = 0.042) were associated with favorable prognosis. Compared with generalized tonic-clonic seizures, tonic seizures had a favorable outcome (P = 0.026). Twenty-three patients underwent neurosurgical operations before VNS implantation, and the responder rate was 60.9% at the last follow-up.

Conclusions
VNS is an adjunctive and effective treatment for patients with refractory epilepsy who are not good candidates for surgical resection or have failed to respond to surgical treatment. The stimulation efficacy increases over time after implantation, and earlier exposure to VNS improves the prognosis.