bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutations
Authors: Junfang Xue , Linyi Xie , Qiuchen Zheng , Fen Xiong , Xiedong Wu , Jialin Fan , Yang Zhang , Dayong Wang , Qiujing Zhang , Qiuju Wang , Qiujing Zhang , Qiuju Wang 
Published: March 2024

Abstract

Background: EYA4 is responsible for DFNA10 deafness. Because of its insidious onset and slow progression, hearing loss in ADSHL is usually difficult to detect early in clinical settings and the intervention is relatively backward. Genetic testing can help to detect hearing loss early and facilitate early intervention, effectively reducing the disability rate and improving the quality of life of patients.
Methods: In this study, we report a Chinese family with delayed onset and progressive hearing loss that passed down for four generations. The whole-exome sequencing (WES) was performed on DNA samples from the proband. Candidate variants in the proband and his family members were confirmed by Sanger sequencing. In silico prediction tools and co-segregation analyses were used to determine the pathogenicity of identified variants. A literature review of known EYA4 mutations was performed, and the mutation frequency, distribution characteristics in different populations, and correlation between genotypes and phenotypes were analyzed.
Results: We identified a novel EYA4 gene mutation, c.1745_1748del (p.Glu582ValfsTer6), in a Chinese family with nonsyndromic ADNSHL. This mutation was predicted to result in a frameshift and a stop codon after six additional amino acids and confirmed co-segregation with the phenotype of this family. To date, 52 pathogenic mutations in EYA4have been reported, and most of these mutations have been identified in Asian populations: 15 mutations in Japan, 10 in China, and four in Korea. In addition, the EYA4 mutation is not a common pathogenic gene of ADNSHL, and its audiological features are highly heterogeneous.
Conclusions: A novel mutation in EYA4was identified in a Chinese family with delayed-onset deafness, further enriching the mutation spectrum of EYA4. The audiological features of EYA4mutations are highly heterogeneous and usually difficult to detect early in clinical settings. Our findings highlight the importance of genetic testing in patients with late-onset hearing loss.
Evaluating fetal pulmonary vascular development in congenital heart disease: a comparative study using the McGoon index and multiple parameters of fetal echocardiography
Authors: Pan Chenke , Zhao Bowen , Pan Mei , Luo Yunkai , Zhang Yunyun , Ying Bin 
Published: March 2024

Abstract
Purpose: The purpose of this study was to evaluate the value of MGI and multiple parameters in the diagnosis of congenital heart disease with different pulmonary circulation blood volumes.
Methods: This study included 349 fetuses categorized into three groups: Group A consisted of 258 fetuses with no discernible abnormalities identified through echocardiography; Group B included 71 fetuses with decreased pulmonary blood flow or pulmonary atresia; and Group C comprised 20 fetuses with reduced or detached aortic flow. The MGI and Z-scores were measured and compared among these groups.
Results: Significant variations were noted in the aortic outflow Z-scores (AO-Zs), pulmonary artery (PA), PA Z-scores (PA-Zs), PA/AO, right PA , and MGI among the three groups (all p < 0.05). Among fetuses with decreased pulmonary blood flow or pulmonary atresia, PA, PA-Zs, and MGI in fetuses with reverse DA flow perfusion were lower than those in the DA forward perfusion group.
Conclusion: Fetal echocardiography, incorporating the MGI and multiple parameters, not only allows for the evaluation of pulmonary blood flow and pulmonary vascular development of the fetus but also enables the observation of changes in pulmonary blood flow and MGI development across different gestational weeks.
Evaluating physical determinants of morbidity among Rohingya refugee pregnant and lactating women in Bangladesh: A cross-sectional study
Authors: Hossain Abeer Mohammad , Hoque Mohammad Rezoanul , Riz Abu Ansar Md , Chowdhury A B M Alauddin 
Published: March 2024

Abstract

The health and well-being of pregnant and lactating women in refugee populations, such as the Rohingya in Bangladesh, represent a significant public health challenge. This study, conducted in the Cox's Bazar area between June and September 2022, aimed to evaluate the physical determinants of morbidity among this vulnerable group, with a particular focus on the roles of maternal age and the duration of pregnancy and lactation periods. Through a descriptive cross-sectional approach, 804 participants were selected using simple random sampling from the makeshift camps at Ukhiya. Data were gathered using semi-structured questionnaires and analyzed with SPSS-26 and Stata-13 software. The findings revealed a notable correlation between younger maternal ages (18 and 20 years) and increased health risks, such as anemia, hypertension, and gestational diabetes, whereas age 21 showed an unexpected positive correlation with better health outcomes. Additionally, extended durations of pregnancy were associated with higher morbidity rates, highlighting conditions like acidity, viral fever, and cough as prevalent among the participants. This study underscores the complex interplay between social, environmental, and individual factors that influence the health of pregnant and lactating Rohingya women, emphasizing the urgent need for targeted health interventions. These interventions should be sensitive to the specific challenges posed by displacement and the makeshift living conditions, incorporating comprehensive support that spans nutritional, medical, and psychological care. By shedding light on the nuanced health needs of Rohingya refugee women, this research contributes valuable insights towards enhancing health strategies and interventions in similar humanitarian crises globally.
Construction of a Nomogram Risk Prediction Model for Acute Cardiotoxicity Associated with Anthracycline Drugs in Pediatric Hematological Tumors: a retrospective cohort study in China
Authors: ZHOU Yanjun , Chunli Wang , Chi Wei 
Published: March 2024

Abstract
Objective To explore the risk factors for anthracycline related acute cardiotoxicity (ACT) in pediatric patients with hematological tumors, and to construct a column chart risk prediction model.
Methods 184 children with hematological tumors in a tertiary hospital from January 2016 to December 2023 were selected as the research subjects. The children were divided into a model group (129 cases) and a validation group (55 cases) in a 7:3 ratio. The model group was used to construct a risk prediction model, while the validation group was used to verify the accuracy of the model's predictions. Using multiple logistic regression analysis to explore the independent influencing factors of anthracycline related acute ACT in children with hematological tumors, and further establishing a risk column chart prediction model using R software.
Results Age, Targeted therapy, TC, and LDL-H were independent risk factors for anthracycline related acute ACT in children with hematological tumors (all P<0.05), while the combination of dexamethasone and dexamethasone was an independent protective factor for anthracycline related acute ACT in children with hematological tumors (P<0.05). A column chart prediction model was constructed using the above influencing factors as indicators. The area under the working characteristic curve (AUC) of the subjects in the model group was 0.804 [95% CI (0.725, 0.869), P<0.001]. The results of the Hosmer Lemeshow goodness of fit test were χ2=9.448, P=0.306, AUC in the validation group was 0.738 [95% CI (0.635,0.848), P<0.001], and the results of the Hosmer Lemeshow goodness of fit test were χ2=9.448, P=0.306. When the threshold probability of the clinical decision curve is between 0.01 and 0.92, the clinical net benefit is higher.
Conclusion: The risk prediction model for anthracycline related acute ACT in children with hematological tumors constructed in this study has good predictive value and clinical applicability. It can help medical staff screen high-risk populations, take timely and effective intervention measures, and achieve maximum survival benefits.
Effectiveness of axicabtagene ciloleucel versus conventional treatments as first-line therapy for high-risk large B-cell lymphoma: an external comparator study
Authors: Shin Ju-Young , Kim Ju Hwan , Bea Sungho , Choi Yeeun , Yoon Sang Eun , Kim Won Seog , Kim Seok Jin 
Published: March 2024

Abstract

Efficacy of Axicabtagene ciloleucel (Axi-cel) as a frontline regimen for high-risk large B-cell lymphoma (LBCL) has been described in ZUMA-12 single-arm trial, yet there is a paucity of data on head-to-head effectiveness comparison between axi-cel vs. conventional therapy. We conducted an external comparator arm (ECA) study to compare overall survival (OS) and progression-free survival (PFS) in patients treated with axi-cel from ZUMA-12 with ECA treated with conventional therapies from SMC-LCS (Samsung Medical Center-Lymphoma Cohort Study 2017–2023); published summary data from ZUMA-12 and individual patient data from SMC-LCS were used. Matching-adjusted indirect comparison weighting was used to compare OS and PFS, adjusting for the baseline characteristics. Of 279 patients with high-risk LBCL in SMC-LCS, 45 fulfilled ZUMA-12 eligibility criteria. Mortality rates were 13.5% in ZUMA-12 and 49.5% in ECA, corresponding to a lower hazard of death for axi-cel (hazard ratio 0.30 [95% CI 0.13–0.73]). Median PFS of ZUMA-12 was not reached vs 2.7 months in ECA, corresponding to improved PFS for axi-cel (hazard ratio 0.23 [0.11–0.46]). This study leveraged real-world data as a source for external comparator to present clinically meaningful evidence on the comparative effectiveness of axi-cel for high-risk LBCL.
Scalable Ammonia Synthesis in Fermentors Using Quantum Dot-Azotobacter vinelandii Hybrids
Authors: Kim Jayeong , Lee Byunghyun , Kim Gui-Min , Lee Ilsong , Lee Sang Yup , Choi Kyeong Rok , Lee Doh Chang 
Published: March 2024

Abstract

This study introduces a scalable synthesis of ammonia through photochemical reactions, wherein nitrogen-fixing bacterial cells, Azotobacter vinelandii (A. vinelandii), form hybrids with colloidal quantum dots (QDs). Irradiation of the QD-A. vinelandii hybrids with visible light is found to significantly enhance ammonia production efficiency. The inherently low ammonia conversion rate of wild-type A. vinelandii is substantially increased upon incorporation of QDs. This increase is attributed to the electron transfer from QDs within the bacterial cells to intracellular bio-components. We explore the scalability of the QD-A. vinelandii hybrids by conducting the photochemical reaction in a 5 L fermentor under various parameters, such as dissolved oxygen, nutrient supply, and pH. Our findings demonstrate that the QD-A. vinelandii hybrid system in a bioreactor setup achieves an ammonia turnover frequency of 11.96 s− 1, marking a more than sixfold increase in efficiency over that of nitrogenase enzymes alone. This advancement highlights the potential of integrating biological and nanotechnological elements for scalable ammonia production processes.
Urbanization Differentially Affects the Distributions of Two Sympatric Congeners with Similar Ecological Niches
Authors: Jackson Danny N. , McGraw Kevin J. 
Published: March 2024

Abstract
Urbanization has altered organisms and ecosystems around the world and will continue to do so into the foreseeable future. Although avian responses to urbanization at the community level have been well characterized, we lack species-level studies examining differences in spatial distributions in response to urbanization. We tested for differences in spatial distributions of two congeneric passerine bird species across an urban ecosystem: northern cardinals (Cardinalis cardinalis) and pyrrhuloxia (Cardinalis sinuatus), two closely related songbird species that overlap in distribution. We developed and deployed a new method for testing differences in spatial distributions between species using MaxENT, eBird, and structured bird-survey data across two regions: the state of Arizona and across the Tucson metropolitan area. We then investigated potential urban-environmental factors that may similarly or differentially influence spatial distribution of (a) northern cardinal populations in two urban centers in the state (Tucson and Phoenix) and (b) both species in and around Tucson. We found that northern cardinals occur both further north in the state of Arizona and further into the city of Tucson than pyrrhuloxia. We also found that pyrrhuloxia are excluded from urban areas by habitat availability, but that they are positively associated with human development. High-intensity urbanization has limited urban northern cardinal distributions, and their affinity for areas near open water may have facilitated their northward expansion across the state. We show that species distributions in response to habitat urbanization differ between even closely related species with very similar niches, and characterize environmental associations that drive these differences.
Design and analysis of discrete fractional-order chaotic map with offset-boosting behavior
Authors: Huang Lilian , Zheng Lei , Yang Yan , Li Chuang 
Published: March 2024

Abstract

This paper presents a 3D discrete fractional-order chaotic map (DFOCM) with offset-boosting behavior based on the memristor. Different from the integer-order chaotic map, the offset-boosting behavior of the DFOCM with parameter offset is associated with the initial value, primarily due to the unique memory properties of fractional-order differences. In addition, rich dynamical properties of the DFOCM are examined using the 0-1 test, maximal Lyapunov exponent, phase diagram, and bifurcation diagram. Numerical simulations show that this DFOCM exhibits more complex dynamical behavior than its integer-order one. Meanwhile, the multistability and conditional symmetry of the DFOCM are studied. The unpredictability and high pseudo-randomness of the chaotic sequence produced by the DFOCM are confirmed by the SE complexity. Finally, the suggested DFOCM is implemented on the DSP hardware platform, demonstrating the physical feasibility of the numerical simulation.
Nutrients removal from wastewater by microalga Chlorella sp. coupled to augmented lipid production with spent wastewater utilized by cyanobacterium Fischerella muscicola TISTR 8215 for hydrogen production
Authors: Wutthithien Palaya , Incharoensakdi Aran 
Published: March 2024

Abstract

Wastewater from different sources with excessive nutrient loading, which is a major contributor to eutrophication, can be a promising medium alternative for microalgae cultivation with effective removal of N-NH4+, PO43−P and organic matters. In this study, three groups of synthetic wastewater (SWW), an ammonium-rich stream (60 to 250 mg L− 1 NH4+) containing a specific type of organic matter, such as petroleum effluent (SWW1: 300 mg L− 1 glucose and 10 mg L− 1 phenol), molasses wastewater (SWW2: 600 mg L− 1 glucose), and agro-industrial wastewater (SWW3: no organic matters) were used for growing Chlorella sp. and for investigating its potential for nutrient removal as well as the production of biomass and lipid. The findings showed that Chlorella sp. grown in SWW2 (i.e., the auto/mixotrophic culture with 14 days) served as efficient feedstock for lipid production, and showed the maximum lipid content and yield of 53% DCW and 188 mg L− 1, respectively. Additionally, the maximum removal of 76% N-NH4+ was observed under this condition. Higher removal of N-NH4+ with 100% efficiency was seen in Chlorella sp. under SWW1 and SWW3 conditions. However, under SWW2 the cells had higher NH4+ uptake rate than that under SWW1 and SWW3, resulting in highest biomass productivity in SWW2 grown cells. The spent media after Chlorella sp. cultivation were used for growing N2-fixing cyanobacterium Fischerella muscicola TIRTS 8215 for the production of hydrogen. Among different spent media, Fischerella muscicola TIRTS 8215 cultivated in SWW1 spent medium obtained from 7-day Chlorella sp. cultivation had the highest hydrogen production of 200.8 µmol H2 mg− 1 chl a. Overall, the present study employed biorefinery approach using the microalga biomass as feed stock for lipid production with subsequent utilization of spent medium for growing the cyanobacterium for enhanced production of hydrogen.
Assessing Hiv Behavioral Risks and Their Associated Socio- Demographic Factors Among Adolescents: Survey Findings From Hiv Risk Education Program in Nimule Peri-urban Town, South Sudan
Authors: Scopas Samuel Bojo , Ayena Nixson , Kokwaro Prof. Gilbert , Agweyu Prof. Ambrose 
Published: March 2024

Abstract
INTRODUCTION: As the world advances toward HIV epidemic control, gains made are being slowed down by an increase in new HIV infections particularly among adolescents whose risky behaviors remain a public health concern. This study aimed to assess self-reported HIV behavioral risks and their associated socio-demographic factors among adolescents in Nimule peri-urban town in South Sudan.
METHODS: We designed and undertook before and after the study with two cross-sectional surveys conducted at baseline and end line for adolescents aged 10-17 years who consented, enrolled, and participated in a peer-led HIV risk education program delivered in health clubs. Using a standardized adolescent survey questionnaire, data on ten (10) self-reported HIV risks including demographic factors of the respondents were collected between December 2020 and December 2021. A multi-level mixed-effect logistic regression analysis was performed using STATA version 16 statistical software to assess the associations between self-reported behavioral risks and associated sociodemographic factors.
RESULTS: Among the 577 adolescents enrolled, 301 (54.0%) were female and 256 (46.0%) were males. The median age was 14 (IQR: 11-16) years at baseline and 15(IQR: 12-17) years at end-line. A slight decrease from 89 (16.0%) to 88 (15.8%) was observed between baseline and end-line in the proportion of adolescents who self-reported that they have never had sex in their lifetime with a corresponding increase from 58 (64.4%) at baseline to 70 (78.6%) at the end line in the proportion of adolescents self-reporting having used condoms in their last sex. Compared with the baseline survey, the odds of self-reported HIV risks were 23% lower (aOR 0.77, 95% CI:0.73-0.80, p<0.001). Equally, higher odds of self-reported risks were observed among male adolescents (aOR 1.11, 95% CI:1.06-1.15, p<0.001), those in the age band 15-17 years (aOR 1.27, 95% CI:1.21-1.34, p<0.001), those who were unemployed (aOR 1.2, 95% CI: 1.21-1.34, p<0.001) and those cared for by non-parents (aOR 1.29, 95% CI:1.21-1.36, p<0.001)
CONCLUSION: Peer-led risk program education programs have the potential to reduce HIV risk behaviors among adolescents and this signifies the crucial role these programs can play in accelerating HIV prevention for young adolescents. We, therefore, recommend the integration of risk education into HIV prevention programs for adolescents in low- and middle-income countries like South Sudan
A Three-stream Fusion Network for 3D Skeleton-based Action Recognition
Authors: Fang Ming , Liu Qi , Ren Jianping , Li Jie , Du Xinning , Liu Shuhua 
Published: March 2024

Abstract
The progress in the skeleton-based action recognition is advancing rapidly in recent years. However, the spatial-temporal features between joints are not systematically explored. In this study, we propose a three-stream fusion network (3sFN) that aims to fully learn action features by mining multiangle and mul-tiscale spatial-temporal information between joints. The proposed model first uses Spatial-Temporal Graph Convolutional Network (ST-GCN) and Res2NeXt-50 to obtain motion spatial-temporal information from the spatial-temporal graph, SkeleMotion, and tree-structure-reference-joints image (TSRJI). The spatial-temporal features obtained from the independent learning of these three components are fine-tuned and fused to make full use of the complementarity and diversity among the three features. The spatial-temporal graph, SkeleMo-tion image, and TSRJI image are all obtained from human skeleton data. The model of 3sFN performs explicit modeling separately on the temporal information and spatial information of the action and solves the shortcomings of ST-GCN, which extracts a single combined feature of temporal and spatial information. The model is tested on the NTU RGB+D 60 and NTU RGB+D 120 datasets, and accuracies of 97.43% on Cross-Subject with 99.19% on Cross-View for the first dataset, and 96.35% on Cross-Subject with 97.34% on Cross-Setup for the second dataset, are obtained. The experimental results show that the proposed model achieves the state-of-the-art action recognition.
Psychometric Evaluation of the Social Touch Questionnaire in Chinese Adolescents
Authors: Wang Chenglei , Xie Ruyun , Chen Liangliang , Yang Xinhua , Yan Chao 
Published: March 2024

Abstract

Social touch promotes psychological well-being through inducing positive effects on social affiliation and stress alleviation, especially in adolescence. However, there is a scarcity of instruments available for evaluating adolescents' attitudes toward social touch in China. The present study aimed to investigate the validity and reliability of the Social Touch Questionnaire (STQ) in Chinese adolescents. A total of 2839 high school students were enrolled, ranging in age from 11 to 19 (Mean = 15.45, SD = 1.63). The dimensions of the scale were conducted by Exploratory factor analysis, and validated by Confirmatory Factor Analysis. A three-factor model showed the best fit and consisted of the following subgroups: Liking of informal social touch; Liking of general social touch; Dislike of social touch. The Cronbach’s alpha of the STQ was .707, and the test–retest reliability was .764 over a two-week interval. Furthermore, the positive associations were found between social touch and interaction anxiety (r = .488, p < .001), fear of negative evaluation (r = .239, p < .001), depressive (r = .214, p < .001) and anxiety symptoms (r = .147, p < .001), and sleep quality (r = .139, p < .001). Short-term prediction of 'Dislike of social touch' in anxiety symptoms was determined, while no significant predictor of depressive symptoms was found. The STQ demonstrates reliability and validity as a self-report questionnaire designed to assess behaviors and attitudes toward social touch. It effectively adapts to the nuances of the Chinese context among adolescents.