bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Exotropia in waardenburg syndrome with novel variations
Authors: Huang Lijuan , Guo Maosheng , Li Ningdong 
Published: September 2022

Background: Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the hair, skin and eyes. However, exotropia is rarely reported. The purpose of this study is to describe the clinical characteristics of three sporadic patients with WS and congenital exotropia and to investigate the disease-causing genes for them.Methods: Patients underwent detailed physical and ocular examinations. Ocular alignment and binocular status were evaluated. DNA was extracted and whole exome sequencing was performed to detect the pathogenic variations in the disease-causing genes for WS. Cloning sequencing was carried out for those indel variations.Results: Three unrelated patients were diagnosed with Waardenburg syndrome and congenital exotropia. Four novel variants, including c.136delA (p.I46Sfs*64) and c.668G&gt;T (p.R223L) in PAX3, c.709dupC (p.Q237Pfs*119) in COL11A2, c.426G&gt;A (p.W142X) in SOX10 gene, were detected in this study.Conclusion: Simultaneous presence of congenital exotropia and WS in our patients is suggested that WS could be involved in malfunction in the multiple nerve systems. Our genetic study will expand the mutation spectrum of PAX3, COL11A2 and SOX10 genes, and is helpful for further study on the molecular pathogenesis of WS.
Cancer stemness-associated LINC02475 serves as a novel biomarker for diagnosis and prognosis prediction of hepatocellular carcinoma
Authors: Lin Xian , Luo Lianxiang , Zou Yujiao , Chen Jian 
Published: September 2022

Purpose: Hepatocellular carcinoma (HCC) is a severe malignant tumor with high incidence and mortality. LncRNAs present broad clinical application prospects. Herein, we aim to identify a cancer stemness associated lncRNA and reveal its role in HCC diagnosis, prognosis evaluation, and progression.Methods: The cancer stemness-associated LINC02475 in HCC samples were identified using bioinformatics analysis. Cellular and molecular experiments were conducted to elucidate the role of LINC02475 in HCC.Results: The firm links between LINC02475 and HCC stemness and prognosis were demonstrated by bioinformatics analysis of public cancer datasets. LINC02475 expression was elevated in HCC, performed well in the diagnosis, and independently predicts poor overall survival (hazard ratio = 1.389, 95% confidence interval = 1.047–1.843, p = 0.023), as well as progression-free survival (hazard ratio = 1.396, 95% confidence interval = 1.016–1.917, p = 0.040) of HCC patients. Moreover, LINC02475 enhanced the tumorigenic pathways necessary for cell stemness, DNA replication required for cell proliferation, epithelial-mesenchymal transition involved in metastasis, and DNA damage repair pathways that drove cell radioresistance and cisplatin resistance, thus promoting HCC progression.Conclusion: Cancer stemness-associated LINC02475 independently predicted a poor prognosis and promoted HCC progression by enhancing stemness, proliferation, metastasis, radioresistance, and chemoresistance. Our study lays a foundation for the clinical application of LINC02475 as a novel biomarker and target for the diagnosis, prognosis evaluation, as well as treatment of HCC.
ICOS-Fc as innovative immunomodulatory approach to counteract inflammation and organ injury in sepsis
Authors: Alves Gustavo Ferreira , Stoppa Ian , Aimaretti Eleonora , Monge Chiara , Mastrocola Raffaella , Porchietto Elisa , Einaudi Giacomo , Collotta Debora , Bertocchi Ilaria , Boggio Elena , Gigliotti Casimiro Luca , Clemente Nausicaa , Aragno Manuela , Fernandes Daniel , Cifani Carlo , Thiemermann Christoph , Dianzani Chiara , Dianzani Umberto , Collino Massimo 
Published: September 2022

Inducible T cell co-stimulator (ICOS), an immune checkpoint protein expressed on activated T cells and its unique ligand, ICOSL, which is expressed on antigen-presenting cells and non-hematopoietic cells, have been extensively investigated in the immune response. Recent findings showed that a soluble recombinant form of ICOS (ICOS-Fc) can act as an innovative immunomodulatory drug as both antagonist of ICOS and agonist of ICOSL, modulating cytokine release and cell migration to inflamed tissues. Although the ICOS-ICOSL pathway has been poorly investigated in the septic context, a few studies have reported that septic patients have reduced ICOS expression in whole blood and increased serum levels of osteopontin (OPN), that is another ligand of ICOSL. Thus, we investigated the pathological role of the ICOS-ICOSL axis in the context of sepsis and the potential protective effects of its immunomodulation by administering ICOS-Fc in a murine model of sepsis. Polymicrobial sepsis was induced by cecal ligation and puncture (CLP) in five-month-old male wild-type (WT) C57BL/6, ICOS-/-, ICOSL-/- and OPN-/- mice. One hour after the surgical procedure, either CLP or Sham (control) mice were randomly assigned to receive once ICOS-Fc, F119SICOS-Fc, a mutated form uncapable to bind ICOSL, or vehicle intravenously. Organs and plasma were collected 24 h after surgery for analyses. When compared to Sham mice, WT mice that underwent CLP developed within 24 h a higher clinical severity score, a reduced body temperature, an increase in plasma cytokines (TNF-α, IL-1β, IL-6, IFN-γ and IL-10), liver injury (AST and ALT) and kidney (creatinine and urea) dysfunction. Administration of ICOS-Fc to WT CLP mice reduced all of these abnormalities caused by sepsis. Similar beneficial effects were not seen in CLP-mice treated with F119SICOS-Fc. Treatment of CLP-mice with ICOS-Fc also attenuated the sepsis-induced local activation of FAK, P38 MAPK and NLRP3 inflammasome. ICOS-Fc seemed to act at both sides of the ICOS-ICOSL interaction, as the protective effect was lost in septic knockout mice for the ICOS or ICOSL genes, whereas it was maintained in OPN knockout mice. Collectively, our data show the beneficial effects of pharmacological modulation of the ICOS-ICOSL pathway in counteracting the sepsis-induced inflammation and organ dysfunction.
Seabird vulnerability to oil: Exposure potential, sensitivity, and uncertainty in the northern Gulf of Mexico
Authors: Michael Pamela E. , Hixson Kathy M. , Haney J. Christopher , Satgé Yvan G. , Gleason Jeffrey S. , Jodice Patrick G. R. 
Published: September 2022

The northern Gulf of Mexico (nGoM) is a globally important region for oil extraction and supports a diverse assemblage of marine birds. Due to their frequent contact with surface waters, diverse foraging strategies, and the ease with which oil adheres to feathers, seabirds are particularly susceptible to hydrocarbon contamination. Given the chronic and acute exposure of seabirds to oiling and a lack of studies that focus on the exposure of seabirds to oiling in sub-tropical and tropical regions, a greater understanding of the vulnerability of seabirds to oil in the nGoM appears warranted. We present an oil vulnerability index for seabirds in the nGoM tailored to the current state of knowledge using new, spatiotemporally expensive vessel-based seabird observations. We use information on the exposure and sensitivity of seabirds to oil to rank seabird vulnerability. Exposure variables characterized the potential to encounter oil and gas (O&amp;G). Sensitivity variables characterized the potential impact of seabirds interacting with O&amp;G and are related to life history and productivity. We also incorporated uncertainty in each variable, identifying data gaps. We found that the percent of seabirds’ habitat defined as highly suitable within 10 km of an O&amp;G platform ranged from 0%-65% among 24 species. Though O&amp;G platforms only overlap with 15% of highly suitable seabird habitat, overlap occurs in areas of moderate to high vulnerability of seabirds, particularly along the shelf-slope. Productivity-associated sensitivity variables were primarily responsible for creating the gradient in vulnerability scores and had greater uncertainty than exposure variables. Highly vulnerable species (e.g., Northern gannet (Morus bassanus)) tended to have high exposure to the water surface via foraging behaviors (e.g., plunge-diving), older age at first breeding, and an extended incubating and fledging period compared to less vulnerable species (e.g., Pomarine jaeger (Stercorarius pomarinus)). Uncertainty related to productivity could be reduced through at-colony monitoring. Strategic seabird satellite tagging could help target monitoring efforts to colonies known to use the nGoM, and continued vessel-based observations could improve habitat characterization. As offshore energy development in the nGoM continues, managers and researchers could use these vulnerability ranks to identify information gaps to prioritize research and focal species.
Reporting the accuracy of small-scale fishing data by simply applying Benford’s law
Authors: Noleto-Filho Eurico Mesquita , Carvalho Adriana Rosa , Thomé-Souza Mario J. F. , Angelini Ronaldo 
Published: September 2022

Small-scale fisheries (SSFs) play essential economic, social, and cultural roles for many fleets in the Atlantic region. The basis of fisheries assessment and management is the landings reported by observers or fishers. Even though the information from the landings is essential, it can be subject to a fisher’s bias, such as the tendency to inflate catches and the refusal to fill the logs. The feasibility for managers using field surveys to validate these datasets is held up by the high costs, shortage in monitoring, and the lack of prior information. Alternatively, Benford analysis overcomes those limitations since it can be applied directly on the logbook data. This method is growing in popularity, underlining its suitability to many economic and biological fields. Hence, in this study, we inspected small-scale fisheries data by the Benford’s distribution, aiming to validate fish landing data from 27 points in Brazil’s northeastern region over 3 years. Our results suggest that 20% of landings data are considered highly imprecise (misinformation), especially from non-motorized canoes. Also, harbors in remote locations provide poorer quality data, specifically monthly catch values reported by several boats. The way we mine our data affects the sensitivity of the analysis, with monthly data being less prone to be accessed by this method than daily information. As the results match our prior knowledge on the location, we endorse the suitability of the method and reliability for assessing accuracy in fishing data. Hence, we recommend that it ought to be used as an audit tool for SSF landing data aiming to enlighten data reliance and support managers for planning management actions.
Properties of novel 0–3 PZT/silicone resin flexible piezoelectric composites for ultrasonic guided wave sensor applications
Authors: Jiang Shuai , Shen Yiping , Wang Songlai , Zhi Yulin , Han Bin 
Published: September 2022

Ultrasonic guided wave (UGW) technology based on piezoelectric sensors is considered a very promising technology for aircraft structural damage detection. Traditional piezoelectric sensors are made of lead zirconate titanate (PZT) ceramics, but their brittleness and hardness make them difficult to apply to curved structure surfaces. In this study, a novel 0–3 flexible piezoelectric composite was fabricated by dispersing PZT particles in silicone resin, and its performance for potential applications in UGW sensors was studied. The effects of polarization conditions, PZT volume fraction, and PZT powder size on the performance of the composite were investigated. The influence of ambient temperature on composite performance was discussed, and temperature adaptability experiments were conducted. The results show that the optimal poling process of 0–3 PZT/silicone resin piezoelectric composite has a poling time of 25 min, a poling electric field of 4 kV/mm, and a poling temperature of 100°C. When the sensor is required to meet the test strain range of 8,000 με, the composite should be fabricated with a PZT volume fraction of 50% and a powder size of 170∼212 μm to obtain optimal sensing sensitivity. At an ambient temperature range of -55–75°C, the fabricated piezoelectric composite sensor has good flexibility and sensitivity in detecting the guide wave signals. These research results provide a new flexible piezoelectric sensing technology for aircraft structural damage detection.
Gender-specific prevalence and risk factors of mild cognitive impairment among older adults in Chongming, Shanghai, China
Authors: Liu Yuewen , Yu Xing , Han Peipei , Chen Xiaoyu , Wang Feng , Lian Xuan , Li Jiayu , Li Ruijin , Wang Beibei , Xu Chunliu , Li Junxue , Zheng Yaqing , Zhang Ziwei , Li Ming , Yu Ying , Guo Qi 
Published: September 2022

ObjectiveThis study explores the gender differences in the prevalence of mild cognitive impairment (MCI) and the correlation between multiple influencing factors.Materials and methodsThe sample was comprised of 1325 relatively healthy participants aged ≥ 60 years in a Shanghai community-dwelling (557 males and 768 females). Cognitive function was assessed by Mini-Mental State Examination (MMSE). The Instrumental Activities of Daily Living (IADL) scale was used to assess the activities of daily living.ResultsThe overall prevalence of MCI was 15.2%, with 10.2% in men and 18.9% in women. In older male subjects, those with higher the Geriatric Depression Scale (GDS) scores [odds ratio (OR) = 1.07, 95% confidence interval (CI) = 1.01–1.14] and hypertension (OR = 2.33, 95% CI = 1.15–4.73) had a higher risk of MCI. female subjects who were illiterate (OR = 2.95, 95% CI = 1.82–4.78), had a farming background (OR = 1.69, 95% CI = 1.05–2.72), and a history of stroke (OR = 1.96, 95% CI = 1.07–3.59) had a higher risk of MCI, but this was not true for males. However, Male subjects who never smoked were less likely to have MCI (OR = 0.22, 95% CI = 0.09–0.54). Additionally, the prevalence of MCI was lower in older women with high grip strength (OR = 0.96, 95% CI = 0.92–0.99) and hyperlipidemia (OR = 0.45, 95% CI = 0.22–0.96).ConclusionThe prevalence of MCI was higher in the population of elderly women compared to men. Moreover, it was found that members with MCI tended to having higher GDS scores, smoking, and hypertension; whereas a history of farming, illiteracy, stroke, grip strength, and hyperlipidemia were correlated with MCI in women.
White matter hyperintensities in Burning Mouth Syndrome assessed according to the Age-Related White Matter Changes scale
Authors: Adamo Daniela , Canfora Federica , Calabria Elena , Coppola Noemi , Leuci Stefania , Pecoraro Giuseppe , Cuocolo Renato , Ugga Lorenzo , D’Aniello Luca , Aria Massimo , Mignogna Michele D. 
Published: September 2022

BackgroundWhite matter hyperintensities (WMHs) of the brain are observed in normal aging, in various subtypes of dementia and in chronic pain, playing a crucial role in pain processing. The aim of the study has been to assess the WMHs in Burning Mouth Syndrome (BMS) patients by means of the Age-Related White Matter Changes scale (ARWMCs) and to analyze their predictors.MethodsOne hundred BMS patients were prospectively recruited and underwent magnetic resonance imaging (MRI) of the brain. Their ARWMCs scores were compared with those of an equal number of healthy subjects matched for age and sex. Intensity and quality of pain, psychological profile, and blood biomarkers of BMS patients were further investigated to find potential predictors of WMHs. Specifically, the Numeric Rating Scale (NRS), Short-Form McGill Pain Questionnaire (SF-MPQ), Hamilton rating scale for Depression and Anxiety (HAM-D and HAM-A), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS) were administered.ResultsThe BMS patients presented statistically significant higher scores on the ARWMCs compared to the controls, especially in the right frontal, left frontal, right parietal-occipital, left parietal-occipital, right temporal and left temporal lobes (p-values: &lt;0.001, &lt;0.001, 0.005, 0.002, 0.009, 0.002, and &lt;0.001, respectively). Age, a lower educational level, unemployment, essential hypertension, and hypercholesterolemia were correlated to a higher total score on the ARWMCs (p-values: &lt;0.001, 0.016, 0.014, 0.001, and 0.039, respectively). No correlation was found with the blood biomarkers, NRS, SF-MPQ, HAM-A, HAM-D, PSQI, and ESS.ConclusionPatients with BMS showed a higher frequency of WMHs of the brain as suggested by the higher ARWCs scores compared with the normal aging of the healthy subjects. These findings could have a role in the pathophysiology of the disease and potentially affect and enhance pain perception.
The association between social engagement and depressive symptoms in middle-aged and elderly Chinese: A longitudinal subgroup identification analysis under causal inference frame
Authors: Yang Yuhui , Li Yemian , Zhao Peng , Wang Jingxian , Mi Baibing , Pei Leilei , Zhao Yaling , Chen Fangyao 
Published: September 2022

BackgroundStudies have suggested that there is a significant association between social engagement and depression symptoms. However, this association may differ in people with different features such as different sociodemographic characteristics and health conditions.MethodsResearch data were obtained from the CHARLS database. The causal inference was performed with the propensity score. We used the linear mixed-effects model tree algorithm under the causal inference frame for subgroup identification analysis.ResultsWe included 13,521 participants, and the median follow-up time is 4 years. Under the casual inference frame, the association between social engagement and depression symptoms is confirmed for all included individuals (OR = 0.957, P = 0.016; 95%CI: 0.923–0.992). Using the linear mixed-effects model tree, we found two subgroups, including middle-aged and elderly residents who live in rural areas with &lt;6 h of sleep and those living in urban areas, could benefit more from social engagement. After using the propensity score method, all the two subgroups selected are statistically significant (P = 0.007; P = 0.013) and have a larger effect size (OR = 0.897, 95%CI: 0.830–0.971; OR = 0.916, 95%CI: 0.854–0.981) than the whole participants. As for sex difference, this associations are statistically significant in male (OR: 0.935, P = 0.011, 95%CI: 0.888–0.985) but not in female (OR: 0.979, P = 0.399, 95%CI: 0.931–1.029).ConclusionsOur findings indicate that social engagement may reduce the risks of depressive symptoms among all individuals. The identified subgroups of middle-aged and elderly residents who live in rural areas with &lt;6 h of sleep and those who live in urban areas may benefit more from the social engagement than the whole participants.
Moderate increase of serum uric acid within a normal range is associated with improved cognitive function in a non-normotensive population: A nationally representative cohort study
Authors: Wang Jinqi , Jin Rui , Wu Zhiyuan , Liu Yueruijing , Jin Xiaohan , Han Ze , Liu Yue , Xu Zongkai , Guo Xiuhua , Tao Lixin 
Published: September 2022

BackgroundAssociations between serum uric acid (SUA) and changes in cognitive function are understudied in non-normotensive populations, and many previous studies only considered the baseline SUA at a single time point. We aimed to examine the effects of baseline SUA and 4-year changes in SUA on cognitive changes in the non-normotensive population.Materials and methodsIn the China Health and Retirement Longitudinal Study (CHARLS), cognitive function was measured based on executive function and episodic memory in four visits (years: 2011, 2013, 2015, and 2018). We identified two study cohorts from CHARLS. The first cohort included 3,905 non-normotensive participants. Group-based single-trajectory and multi-trajectory models were applied to identify 7-year cognitive trajectories. Adjusted ordinal logistics models were performed to assess the association between baseline SUA and 7-year cognitive trajectories, and subgroup analyses were conducted according to the presence of hyperuricemia or SUA levels. The second cohort included 2,077 eligible participants. Multiple linear regression was used to explore the effect of a 4-year change in SUA on cognitive change during the subsequent 3-year follow-up.ResultsFour distinct single-trajectories of global cognitive performance and four multi-trajectories of executive function and episodic memory were identified. Higher baseline SUA levels were significantly associated with more favorable cognitive single-trajectories (ORQ4 vs. Q1: 0.755; 95% CI: 0.643, 0.900) and multi-trajectories (ORQ4 vs. Q1: 0.784; 95% CI: 0.659, 0.933). Subgroup analyses revealed that the protective effect of SUA was significant in the non-hyperuricemia groups or the low-level SUA groups. Additionally, changes in SUA could influence future cognitive changes. Compared with non-hyperuricemia participants with elevated SUA, non-hyperuricemia participants with decreased SUA and patients with persistent hyperuricemia had a higher risk for cognitive decline. Furthermore, only the Q3 group of changes in SUA could enhance global cognitive function compared with the Q1 group (β: 0.449; 95% CI: 0.073, 0.826).ConclusionOur study indicates that the maintenance of normal SUA levels and a moderate increase of SUA were advantageous in improving cognitive function or trajectories in a non-normotensive population. Conversely, SUA may impair cognitive function in patients with persistent hyperuricemia.
Potential of brain age in identifying early cognitive impairment in subcortical small-vessel disease patients
Authors: Shi Yachen , Mao Haixia , Gao Qianqian , Xi Guangjun , Zeng Siyuan , Ma Lin , Zhang Xiuping , Li Lei , Wang Zhuoyi , Ji Wei , He Ping , You Yiping , Chen Kefei , Shao Junfei , Mao Xuqiang , Fang Xiangming , Wang Feng 
Published: September 2022

BackgroundReliable and individualized biomarkers are crucial for identifying early cognitive impairment in subcortical small-vessel disease (SSVD) patients. Personalized brain age prediction can effectively reflect cognitive impairment. Thus, the present study aimed to investigate the association of brain age with cognitive function in SSVD patients and assess the potential value of brain age in clinical assessment of SSVD.Materials and methodsA prediction model for brain age using the relevance vector regression algorithm was developed using 35 healthy controls. Subsequently, the prediction model was tested using 51 SSVD patients [24 subjective cognitive impairment (SCI) patients and 27 mild cognitive impairment (MCI) patients] to identify brain age-related imaging features. A support vector machine (SVM)-based classification model was constructed to differentiate MCI from SCI patients. The neurobiological basis of brain age-related imaging features was also investigated based on cognitive assessments and oxidative stress biomarkers.ResultsThe gray matter volume (GMV) imaging features accurately predicted brain age in individual patients with SSVD (R2 = 0.535, p &lt; 0.001). The GMV features were primarily distributed across the subcortical system (e.g., thalamus) and dorsal attention network. SSVD patients with age acceleration showed significantly poorer Mini-Mental State Examination and Montreal Cognitive Assessment (MoCA) scores. The classification model based on GMV features could accurately distinguish MCI patients from SCI patients (area under the curve = 0.883). The classification outputs of the classification model exhibited significant associations with MoCA scores, Trail Making Tests A and B scores, Stroop Color and Word Test C scores, information processing speed total scores, and plasma levels of total antioxidant capacity in SSVD patients.ConclusionBrain age can be accurately quantified using GMV imaging data and shows potential clinical value for identifying early cognitive impairment in SSVD patients.