bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Analysis by NGS and MLPA in Chinese Aniridia Patients
Authors: Wang Li , Xu Qingdan , Wang Wentao , Sun Xinghuai , Chen Yuhong 
Published: August 2023

Abstract

Purpose: To report clinical features and elucidate genetic etiology of patients with congenital aniridia and to reveal the mutational spectrum in the Chinese population.
Methods: Sixty patients with congenital aniridia from 51 families were recruited in this study. Candidate genes of developmental eye diseases were captured and analyzed by panel-based next-generation sequencing (NGS), and the mutations were confirmed by polymerase chain reaction (PCR) and Sanger sequencing. Multiplex ligation probe amplification (MLPA)of PAX6 and FOXC1 was performed to detect copy number variations (CNVs) for patients without intragenic mutations.
Results: Clinical examinations revealed that 58 patients had complete iris loss, two patients showed partial iris loss. Two patients were diagnosed WAGR syndrome with nephroblastoma. Combining panel-based NGS and MLPA, 43 intragenic mutations or deletions of PAX6, FOXC1, and BCOR genes were identified in 59 patients, including 33 point-mutations (76.7%) in 43 patients and 10 deletions (23.3%) in 16 patients; the total detection rate was 98.3%. Phenotypic variations were observed between families and intra-families.
Conclusion: The results confirmed that variations in PAX6 and adjacent regions were the predominant cause of aniridia in China. Besides intragenic point mutations in PAX6, the deletion comprising PAX6 gene or the adjacent genes is also a common cause of congenital aniridia. In addition, FOXC1 gene is another important gene causing congenital aniridia. Panel-based NGS combined with MLPA increase significantly the detection rate of gene mutations for patients with congenital aniridia.
Magnitude and Predictors of self-care Practices among Patients with Diabetes Mellitus in Central Ethiopia: the health belief model perspective
Authors: Adem Muhammedawel , G/tsadik Daniel , Gere Sisay 
Published: August 2023

Abstract
Background: Diabetes self-care practice is essential to control illness. One's ability to manage diabetic self-care is influenced by a variety of circumstances. The Health Belief Model is critical for comprehending and designing context-specific strategies for this purpose. Therefore, this study aimed to assess self-care practice of patients with diabetes mellitus using the health belief model.
Methods: An institutional-based cross-sectional study design was conducted from March to May, 2021 at Adama Hospital Medical College and Asella Teaching and Referral Hospitals. A total of 420 diabetic patients were consecutively included in the study. The collected data were analyzed using SPSS 20. Binary and multiple logistic regression models were fitted to identify the factors associated with self-care practices. Adjusted odds ratio with a 95% confidence interval and p-value of 0.05 or less was used to indicate statistical significance.
Results: Among the respondents nearly half, 48.1% (43.6, 53.1), were reported practicing good diabetes self-care. Respondents above high school (AOR=2.19, 95% CI= 1.09, 4.36), retired respondents (AOR=0.24, 95% CI=0.11, 0.50), those with no history of forgetting to take their medication (AOR=1.61, 95% CI=1.04, 2.66), those with good knowledge (AOR=1.81, 95% CI= 1.09, 3.01), respondents with moderate perceived susceptibility (AOR=0.42, 95% CI= 0.18, 0.98), high perceived severity (AOR= 0.33, 95% CI=0.19, 0.57), and a higher perceived barrier (AOR= 0.44, 95% CI= 0.24, 0.81) showed a significant association with diabetes self-care practices.
Conclusions: Almost half of the participants practiced good self-care. Educational status, occupation, those with a history of forgetting to take their treatment, having good knowledge, perceived susceptibility, perceived severity, and barrier were significantly associated. Therefore, healthcare professionals and hospital administrators need to increase patients' perceived susceptibility and the serious complication of diabetes. Also, perceived barriers to self-care should be evaluated, and patients should actively be involved in tailoring required modifications to their routines.
Impact of accouting for a thermally-balanced soil state on subseasonal predictability
Authors: Ardilouze Constantin , Boone Aaron Anthony 
Published: August 2023

Abstract
Accurate soil moisture initial conditions in dynamical subseasonal forecast systems are known to improve the temperature forecast skill regionally, through more realistic water and energy fluxes at the land-atmosphere interface. Recently, results from a multi-model coordinated experiment have provided evidence of the primal contribution of the initial surface and subsurface soil temperature over the Tibetan Plateau for capturing a hemispheric scale atmopsheric teleconnection leading to improved subseasonal forecasts. Yet, both the soil temperature and water content are key components of the soil enthalpy and we hypothesize that properly initializing one of them without modifying the other in a consistent manner can alter the soil thermal equilibrium, thereby potentially reducing the benefit of land initial conditions on subsequent atmospheric forecasts. This study builds on the protocol of the above-mentioned multi-model experiment, by testing three different land initialization strategies in an Earth system model. Results of this pilot study suggest that a better mass and energy balance in land initial conditions of the Tibetan Plateau triggers a wave train which propagates through the northern hemisphere mid-latitudes, resulting in an improved large scale circulation and temperature anomalies over multiple regions of the globe. While this study is based on a single case, it strongly advocates for enhanced attention towards preserving the soil energy equilibrium at initialization to make the most of land as a driver of atmospheric extended-range predictability.
Real-time and video-recorded cattle pain assessment: clinical application and reliability
Authors: Tomacheuski Rubia Mitalli , Oliveira Alice Rodrigues , Trindade Pedro Henrique Esteves , Lopez-Soriano Magdiel , Merenda Victoria Rocha , Luna Stelio Loureiro , Pairis-Garcia Monique D 
Published: August 2023

Abstract
Bovine pain assessment relies on validated behavioral scales related to normal and pain-related behaviors. This study aimed to investigate the reliability and applicability of real-time and video-recorded cattle pain assessment, and to compare its agreement. Ten Nelore and Nine Angus bulls underwent general anesthesia and surgical castration. Three-minute real-time observations and simultaneous videos were recorded at -48 h (M0), preoperative (M1), after surgery (M2), after rescue analgesia and at 24 h (M4). Animals received morphine, dipyrone and flunixin meglumine after surgical castration. Two trained evaluators assessed real-time (n = 95) and video-recorded time-points (n = 95) using the Unesp-Botucatu Cattle Pain Scale (UCAPS). Both assessment methods inferred ‘very good’ reliability (≥ 0.81) with minimal bias, however, video-recorded assessment (4.33 ± 2.84) demonstrated slightly higher scores compared to real-time (3.08 ± 2.84). The results from this study suggest the UCAPS can be used in both real-time and video-recorded to assess pain and guide analgesic therapy in cattle.
Artificial intelligence-Enhanced Quantitative Ultrasound for Breast Cancer: Pilot Study on Quantitative Parameters and Biopsy Outcomes
Authors: Kwon Hyuksool , Oh SeokHwan , Kim Myeong-Gee , Kim Youngmin , Jung Guil , Lee Hyeon-Jik , Kim Sang-Yun , Bae Hyeon-Min 
Published: August 2023

Abstract
Traditional B-mode ultrasound has difficulties distinguishing benign from malignant breast lesions. It appears the Quantitative Ultrasound (QUS) may offer advantages. We examined the QUS imaging system's potential, utilizing parameters like Attenuation Coefficient (AC), Speed of Sound (SoS), Effective Scatterer Diameter (ESD), and Effective Scatterer Concentration (ESC), to enhance diagnostic accuracy. B-mode images and RF signals were gathered from breast lesions. These parameters were processed and analyzed by a QUS system trained on a simulated acoustic dataset and equipped with an encoder-decoder structure. Fifty-seven patients were enrolled over six months. Biopsies served as the diagnostic ground truth. AC, SoS, and ESD showed significant differences between benign and malignant lesions (p < .05), but ESC did not. A logistic regression model was developed, demonstrating an area under the receiver operating characteristic curve of 0.90 (95% CI: 0.78, 0.96) for distinguishing between benign and malignant lesions. In conclusion, the QUS system shows promise in enhancing diagnostic accuracy by leveraging AC, SoS, and ESD. Further studies are needed to validate these findings and optimize the system for clinical use.
Testing GWP* to quantify non-CO2 contributions in the carbon budget framework: the case under overshoot scenarios
Authors: Mastropierro Matteo , Tanaka Katsumasa , Melnikova Irina , Ciais Philippe 
Published: August 2023

Abstract
The Global Warming Potential-star (GWP*) approach is a way to account for the contributions of non-CO2 emissions in the carbon budget framework. It is an active research question to what extent the carbon budget approach holds under overshoot scenarios. Here we evaluate the performance of GWP* in the carbon budget framework under long-term overshoot scenarios by converting CH4 emissions to CO2-equivalent emissions via GWP* and calculating the temperature through simple climate models. We show that the use of GWP* can lead to an overestimation or underestimation of temperatures over multiple centuries, depending on the rate of CH4 emission decline. Furthermore, our model simulations indicated that the use of GWP* further contributes to an overestimation of the transient climate response to cumulative CO2 emissions (TCRE) under decreasing CO2-equivalent emissions, converted from CH4. The applicability of GWP* needs to be assessed in overshoot scenarios further by exploring the uncertainties in the representation of Earth System feedbacks.
Preparation of chitosan-iron oxide modified sludge-based biochar for effective removal of tetracycline from water: performance and mechanism
Authors: Yang Yangyang , Li Shihao , Zhu Zhenting , Wan Lei , Wang Xun , Hou Jun , Liu Songqi , Fan Xiulei 
Published: August 2023

Abstract
The release of antibiotics has attracted wide attention due to their abuse and discharge. How to remove these emerging contaminants is an urgent need to be solved. In the present study, sludge-based biochar combining chitosan and iron oxide was prepared via municipal sewage sludge. The novel biochar modified with chitosan and iron oxide exhibited satisfying performance in eliminating antibiotics from water. The application of modified biochar combined with activated persulfate (PS) showed a remarkable removal efficiency of 96.98% for tetracycline (TC). Analysis of the surface characteristics of the modified biochar showed the presence of structural defects, dispersed iron oxides, numerous functional groups, a porous structure, and a relatively stable crystal structure. These characteristics contributed significant importance to facilitating the removal/degradation of TC. The investigation indicated that the removal efficiency was maintained at feasible conditions with the treatment process under a low TC concentration (30 mg/L), with a temperature at T = 308.15K, solution pH = 4. Three degradation pathways and seven intermediate products of TC were proposed. Therefore, our study provides a promising approach for developing effective removal of antibiotics pollutants.
Structural basis for the substrate binding and catalytic mechanism of Se-glycosyltransferase SenB in the biosynthesis of selenoneine
Authors: Long Feng , Huang Wei , Song Jun , Sun Tianxue , He Yue , Deng Zixin 
Published: August 2023

AbstractSelenium is a multi-functional trace element essential for diverse organisms. SenB is aSe-glycosyltransferase that incorporates selenium into small molecules in the selenoneine biosynthesis pathway and is also the only knownSe-glycosyltransferase in nature. Although the biochemical function of SenB has been investigated, its substrate specificity, structure, and catalytic mechanism remain unclear. Here, we revealed that SenB exhibits sugar donor specificity and promiscuity and can utilize six UDP-sugars to generate selenosugars. The crystal structures of SenB complexed with four different UDP-sugars were solved. The residues N20, T23, and E231 were proven as the key elements that determine the sugar donor promiscuity of SenB. Structure-guided mutagenesis further revealed a novel catalytic triad H58/D86/K158 in SenB, which accounts for the C-Se glycosidic bond formation and Se-P bond cleavage during theSe-glycosylation process. Furthermore, we mined, functionally and structurally characterized two other novelSe-glycosyltransferase,CbSenB andRsSenB, which also exhibit sugar donor promiscuity.
Isotopic Tracing of Nutrient Sources and Inputs to North-Central Florida Bay
Authors: Linenfelser Joshua , James William Ryan , Rezek Ryan J , Santos Rolando O. , Frankovich Tom A , Madden Christopher J , Nelson James A , Rehage Jennifer 
Published: August 2023

Abstract
Coastal nutrient loading is a primary driver of changes to habitat structure, species diversity, and increases in hypoxia and harmful algal blooms in estuaries worldwide. The difficulty of identifying non-point source inputs of nutrients often hinders the management and mitigation of these nutrient loads. Using stable isotopes, this study aimed to determine the primary sources of nutrients influencing the coastal Everglades, specifically lake systems in the rim of north-central Florida Bay. Carbon, nitrogen, and sulfur stable isotope values of algae grown in situ were used as a natural tracer of nutrient sources across hydrologic seasons (wet and dry seasons of 2021-2022), and across a north to south estuarine gradient in these coastal lake systems. Mean δ15N values (+2 to +3‰), consistent across both space and time, provided evidence that allochthonous N may primarily influence this region. Mixing models identified a mixture of upstream marsh and downstream bay derived nutrients primarily influencing the nutrient regime of the systems. Nutrient inputs varied with season and location. We observed higher marsh derived nutrient inputs in the upper portion of the system during the wet season, and greater nutrient inputs from Florida bay during the dry season, primarily in the lower portion of the estuary. This study highlights how managed restoration in marsh waterflow may increase N inputs, however, ecosystem-wide shifts must be better understood to predict ecological changes.
Heterogeneous Effects of Multidimensional Housing Insecurity on Mental Health by Gender and Region
Authors: Kim Jooyoung , Kang Seungbeom 
Published: August 2023

Abstract
Housing insecurity is a prevalent housing and urban problem worldwide, attracting considerable attention from scholars investigating its impact on mental health. However, little evidence exists that housing insecurity, in its multidimensional nature, affects depressive symptoms heterogeneously by gender and region. To fill research gaps, by analyzing the Korea Welfare Panel Study between 2007 and 2020, we examine three research questions: (1) how do the effects of multiple aspects of housing insecurity, indicated by a series of housing-related indicators, on mental health vary by gender? (2) how do the effects of the different aspects of housing insecurity on mental health vary by region? (3) do significant interaction effects between multiple aspects of housing insecurity on mental health exist? Our research demonstrates that regardless of gender or region, housing affordability stress (HAS) and housing quality negatively affect mental health. HAS has a greater impact on men’s mental health than on women, whereas housing quality has a more substantial impact on women. When men simultaneously experience a positive transition in housing tenure, the effect size of HAS is diminished. For women, the effect of HAS varies based on other facets of housing insecurity, such as overcrowding and housing quality. Additionally, we provide evidence that various aspects of housing insecurity affect mental health differentially based on residence location. These findings emphasize the significance of considering the role of housing insecurity in shaping mental health from multiple perspectives and the need for devising gender- and region-specific strategies to combat housing-related stress.
A Novel Prediction Tool for Mortality in Patients with Acute Lower Gastrointestinal Bleeding: A Large Multicenter Long-Term Cohort Study
Authors: Tominaga Naoyuki , Sadashima Eiji , Aoki Tomonori , Fujita Minoru , Kobayashi Katsumasa , Yamauchi Atsushi , Yamada Atsuo , Omori Jun , Ikeya Takashi , Aoyama Taiki , Sato Yoshinori , Kishino Takaaki , Ishii Naoki , Sawada Tsunaki , Murata Masaki , Takao Akinari , Mizukami Kazuhiro , Kinjo Ken , Fujimori Shunji , Uotani Takahiro , Sato Hiroki , Suzuki Sho , Narasaka Toshiaki , Hayasaka Junnosuke , Funabiki Tomohiro , Kinjo Yuzuru , Mizuki Akira , Kiyotoki Shu , Mikami Tatsuya , Gushima Ryosuke , Fujii Hiroyuki , Fuyuno Yuta , Gunji Naohiko , Toya Yosuke , Narimatsu Kazuyuki , Manabe Noriaki , Nagaike Koji , Kinjo Tetsu , Sumida Yorinobu , Funakoshi Sadahiro , Kobayashi Kiyonori , Matsuhashi Tamotsu , Komaki Yuga , Miki Kuniko , Watanabe Kazuhiro , Kaise Mitsuru , Nagata Naoyoshi 
Published: August 2023

Abstract
Acute lower gastrointestinal bleeding in patients with poor long-term prognoses requires careful follow-up. This study aimed to identify predictors of long-term mortality in patients with acute hematochezia and construct a prognostic tool using a large dataset.The analysis included 8,254 patients with hematochezia requiring emergency hospitalization (from the CODE BLUE J-study). Data on vital signs, symptoms, initial laboratory findings, medications, comorbidities, diagnoses, and in-hospital procedures were comprehensively analyzed to develop a scoring model for 30-day and 1-year mortality outcomes.The 30-day and 1-year mortality rates were 0.9% and 3.0%, respectively. A highly accurate (C-index, 0.88) long-term prognostic scoring system known as the CACHEXIA score was constructed. The 1-year mortality rates for patients with low-, medium-, and high-risk CACHEXIA scores were 1.1%, 16.4%, and 63.4%, respectively. The predictors of 30-day mortality were included in the predictors of 1-year mortality, and the ROC-AUC for the short-term prognostic score was 0.93.Indicators of long-term prognosis in hematochezia cases were identified using extensive multicenter data. Even after being discharged, patients identified as high-risk using our unique prediction score need follow-up.
The Pseudo Jahn-Teller effect and NBO analysis for untangling the symmetry breaking in the planar configurations of M 2 X 4 + (M=Si, Ge and X=Cl, Br, I): effect on electronic structure and chemical properties
Authors: Kouchakzadeh Ghazaleh , Mahmoudzadeh Golrokh 
Published: August 2023

Abstract
The Pseudo Jahn- Teller effect is a significant tool for evaluating molecular distortion and symmetry breaking. The PJT effect associated with NBO analysis can be a powerful method for studying the structural properties variations arising from D2h → C2h distortions. Ab initio calculations have shown that C2h non- planar structures are more stable than planar structures with D2h symmetry. The \(({B}_{3u}+{B}_{1u})⨂{b}_{2g}\) PJTE problem of M2X4+ compounds is a result of the coupling between the ground B3u state and the exited B1u state in the Qb2g direction causes. Also, the difference in M and X atoms can affect the PJT instability of compounds. The findings of this work showed that the energy gap between the ground and excited states that have D2h symmetry decreases from M2Cl4+ to M2I4+ and increases from Si2X4+ to Ge2X4+. In fact, there is a significant relationship between instability of high-symmetry configurations, geometric parameters, electron delocalization, chemical hardness, electronegativity, and PJT stabilization energies. These results may serve to evaluate the distortion of similar systems.
Changes of histidine-rich glycoprotein levels in critically ill septic patients
Authors: Pradana Ayu Nabila Kusuma , Akahoshi Tomohiko , Guo Jie , Mizuta Yukie , Matsunaga Shuntaro , Narahara Sayuko , Murata Masaharu , Yamaura Ken 
Published: August 2023

Abstract

Histidine-rich glycoprotein (HRG) has been reported as a prognostic factor in patients with sepsis. However, the relevance of HRG to the pathogenesis of septic-induced shock, disseminated intravascular coagulopathy (DIC), and acute respiratory distress syndrome (ARDS) is unknown. In 53 critically ill patients, we examined the association between HRG concentrations and the pathogenesis of these conditions. Serum HRG concentrations were significantly lower on days 3, 5, and 7 than on day 1 in patients with septic shock and in those with DIC, but not in those with ARDS. Although HRG concentrations on day 1 were not associated with survival, HRG concentrations were decreased in non-survivors, with a significant decline on days 3, 5, and 7 after admission to the intensive care unit. Whereas, HRG concentrations did not change in survivors. Decreased HRG concentrations may independently play a role in the pathogenesis of DIC in patients with sepsis and may relate to DIC-related mortality. A progressive decrease in HRG concentrations, especially on days 5 and 7, may affect the mortality rate. Therefore, supplemental HRG treatment may become a new strategy for critically ill patients with sepsis.
Immersive Virtual Reality Exposures for the Treatment of Childhood Anxiety
Authors: Ramsey Kesley A. , Essoe Joey Ka-Yee , Boyle Nathan , Patrick Ainsley K. , McGuire Joseph F. 
Published: August 2023

Abstract
Exposure-based cognitive behavior therapy (CBT) has demonstrated efficacy and is recommended as a front-line treatment for childhood anxiety. Unfortunately, challenges exist that impact the effective implementation of exposure-based CBT in clinical practice. One of the primary challenges is the accessibility and availability of exposure stimuli (e.g., spiders, storms, heights) in CBT sessions. Immersive virtual reality (VR) has shown promise as a scalable and sustainable solution to address this clinical need, but remains largely untested in youth with anxiety disorders. Here, we examine the use of VR exposures in the treatment of youth with an anxiety disorder (i.e., specific phobias). We aimed to investigate: (1) the feasibility and initial efficacy of VR exposures; (2) whether VR exposures elicit changes in physiological arousal and/or subjective distress; and (3) whether habituation serves as a mechanism across physiological and subjective outcomes for VR exposures. Three youth and their parents completed a clinical evaluation, which was followed by a one session treatment (OST) with VR exposures. Afterward, youth and parents completed clinical assessments one-week and one-month after treatment. Immersive VR exposures were found to be feasible and demonstrated initial efficacy for reducing anxiety severity. Additionally, VR exposures elicited changes in both physiological and subjective outcomes. Finally, physiological habituation to VR exposures was observed among participants who exhibited treatment response at follow-up. Collectively, these findings demonstrate preliminary evidence that VR exposures are feasible, tolerable, and effective for treating youth with anxiety.