bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification Of Pathogenic Mutations And Application Of Polygenic Risk Scores To Differentiate MODY Patients From Other Diabetes Types
Authors: Atava Ivanna , Reščenko Raimonds , Brīvība Monta , Birzniece Līga , Elbere Ilze , Megnis Kaspars , Pečulis Raitis , Lauga-Tuņina Una , Kirillova Ināra , Konrāde Ilze , Dzīvīte-Krišāne Iveta , Kalniņa Ineta , Klovins Janis 
Published: March 2024

Abstract
Maturity-onset Diabetes of the Young (MODY) presents a diagnostic challenge, with a large proportion of cases lacking identifiable genetic mutations. This study investigates the genetic basis of MODY in a Latvian cohort comprising 66 suspected MODY families, contrasted with 177 non-diabetic controls. Employing panel-based and whole-genome sequencing (WGS), we identified 22 pathogenic mutations in three MODY genes (GCK, HNF1A, and HNF4A), eight of them being novel. We selected and tested the best-performing population specific type 1 diabetes (T1D) and type 2 diabetes (T2D) polygenic risk score (PRS) models on the established MODY cohort and controls. Patients without genetically confirmed MODY had a significantly higher risk for T1D compared to controls. A 75% centile of T1D-PRS included only 8.7% of the genetically confirmed MODY patients, compared to 34% of patients without mutations, providing good specificity for the identification of indicative T1D at this PRS range. While T2D-PRS was increased in the MODY cohort, it did not demonstrate an ability to discriminate between both MODY subgroups. In summary, our study demonstrates that the application of WGS improves diagnostic accuracy and highlights the potential of T1D-PRS as a critical tool for stratification of MODY suspected patients.
Using HD-EMG to Assess Motor Units in Vastus Lateralis with the Lokomat: A Pilot Study with Young, Elderly and Individuals Post-Stroke
Authors: Corvini Giovanni , Lorusso Matteo , Tagliamonte Nevio Luigi , Masciullo Marcella , Molinari Marco , Scivoletto Giorgio , Tamburella Federica , Moreno Juan C. 
Published: March 2024

Abstract

Despite its increasing use in research, High-Density EMG (HD-EMG) has yet to gain widespread acceptance in routine clinical evaluations, particularly for assessing age-related variations and central nervous system disorder. This pilot study aims to evaluate the feasibility of using a portable HD-EMG system during daily rehabilitation tests with the Lokomat, a robotic platform widely used in neurorehabilitation, to study MU properties in different populations. Nine participants, categorized in three groups (healthy young, healthy elderly and individual with chronic stroke) were recruited. Participants performed isometric sub-maximal contractions at three force levels within the Lokomat, and myoelectrical signals were acquired through a portable 64-channel HD-EMG system. Our findings suggest that traditional sEMG amplitude and spectral parameters fail to identify differences among healthy control groups, whereas HD-EMG can effectively capture age-related variations through the analysis of MU properties (i.e., number of extracted MUs). Additionally, in contrast to the traditional parameters typically used by clinicians, MU property analysis revealed distinct neuromuscular alterations when comparing individuals who had a stroke with healthy groups. Results highlight the potential of HD-EMG in exploring specific neuromuscular changes associated with stroke. Therefore, this pilot study shows the feasibility of integrating HD-EMG into clinical test sessions with the Lokomat. By studying MU properties, HD-EMG provides valuable insights into muscle behavior, potentially advancing our understanding of neuromuscular conditions and effectively optimizing rehabilitation treatments. We believe that further research in this direction is needed to establish HD-EMG as a standard clinical diagnostic tool.
Asymptotic solution of electromagnetic heating of skin tissue with lateral heat conduction
Authors: Jaime-Yepez Ulises , Wang Hongyun , Foley Shannon E. , Zhou Hong 
Published: March 2024

Abstract

We study the temperature evolution in the three-dimensional skin tissue exposed to an electromagnetic beam of millimeter wavelength. The skin absorption coefficient at the beam frequency determines how deep the electromagnetic energy penetrates into the skin tissue, which gives a sub-millimeter penetration depth for a 94 GHz wave. In contrast, in the lateral directions perpendicular to the depth, the beam size is usually much larger than the penetration depth. Based on this separation of length scales, we establish a formulation in which each term has separable dependences on the depth coordinate and on the lateral coordinates. We solve the equations in the formulation analytically to obtain a two-term asymptotic solution of the temperature distribution in the three-dimensional skin tissue. This closed-form analytical solution provides a practical and accurate way of predicting the temperature. It is useful when the beam size is moderately larger than the penetration depth. In that situation, the effect of lateral heat conduction is not negligible and is well captured in the asymptotic solution.
The impact of donor and recipient MDR1 G2677TA, C1236T, C3435T match and mismatch on the outcomes of patients after allogeneic hematopoietic stem cell transplantation
Authors: Duan Ziwen , Zhang Xiao , Liu Yanping , Wang Jiawen , Zhu Han , Chen Ruize , Xu Wei , Miao Kourong 
Published: March 2024

Abstract

In this study, we investigated whether the matched or mismatched multidrug resistance (MDR1) G2677TA, C1236T and C3435T were associated with prognosis in patients after allo-HSCT. One hundred patients after transplantation and their donors were enrolled. We tested all enrollers for genotypes at the following three loci: G2677TA, C1236T and C3435T. Matched MDR1 G2677TA donor-recipient was associated with an increased risk of non-relapse mortality (NRM) (29.5% vs. 6.2%, p = 0.002), and poor overall survival (OS) (51.7% vs. 63.8%, p = 0.024) and disease-free survival (DFS) (38.6% vs. 67%, p = 0.005). There were no differences in OS, DFS, NRM between MDR1 C1236T, C3435T matched and mismatched group. Subgroup analysis suggested that in matched MDR1 G2677TA group, male (OS, 31.3% vs. 76.9%, p = 0.011; DFS, 25% vs. 55.6%, p = 0.027), hematopoietic cell transplantation–specific comorbidity index (HCT-CI) ≥ 1 (OS, 16.7% vs. 60.9%, p = 0.007; DFS, 16.7 vs. 44.4%, p = 0.017), acute kidney injury (AKI) patients with serum creatinine > 137.2umol/L (OS, 12.5% vs. 80%, p = 0.047; DFS, 0 vs. 60%, p = 0.017), and post-transplantation thrombocytopenia (PT) (OS, 33.3% vs. 71.4%, p = 0.030; DFS, 21.4% vs. 55.1%, p = 0.018 ) had poor survival. Results demonstrated that prognosis of matched MDR1 G2677TA donor-recipient was worse than mismatched. It may become a useful molecular tool to identify the poor prognosis of patients after transplantation.
Exploring the Role of Campus Clubs in Fostering Sustainable Development of Traditional Chinese Stone Rubbing Artistry: A Case Study of Nanjing Forestry University
Authors: Tao Haomiao , Lu Huangjia , Zhu Ping 
Published: March 2024

Abstract
Traditional Chinese stone rubbing artistry is an ancient Chinese art that involves the technique of tightly covering paper on the surface of metal, stone, and other hard objects, and transferring the objects’ graphics, decorations, inscriptions, and so on to paper with ink or oil colors. Traditional Chinese stone rubbing artistry is a unique discipline that integrates epigraphy, calligraphy, and painting and is widely used in archaeology, literature, and art. With the passage of time, it is now on the verge of being in the lost-and-listed category of intangible cultural heritage projects in Nanjing. Hence, revitalizing this ancient art form of traditional Chinese stone rubbing artistry has become a realistic problem. This study explores a new path for the sustainable development of traditional Chinese stone rubbing artistry with the intervention of campus art clubs and a combination of digital platforms. Taking the first practice of the Nanjing Forestry University’s Traditional Chinese Stone Rubbing Artistry Club as an example, this study explores the “five-in-one” inheritance model of traditional Chinese stone rubbing artistry represented by the master-apprentice system by adopting research methods such as literature analysis and expert interviews.
Elevated soluble CD226 in Takayasu arteritis is useful for differentiation from giant cell arteritis and is associated with the disease activity and prognosis
Authors: Nakano Miki , Ayano Masahiro , Fukui Shoichi , Iwanaga Nozomi , Tatsutani Tomofumi , Takaki-Kuwahara Ayako , Kimoto Yasutaka , Akahoshi Mitsuteru , Migita Kiyoshi , Kawakami Atsushi , Tada Yoshifumi , Niiro Hiroaki 
Published: March 2024

Abstract
Background
Takayasu arteritis (TAK) is characterized by vascular injury, in which endothelial cells and immune cells, such as natural killer (NK) cells, have key roles. CD226 is an activating receptor expressed on the cell membrane of NK cells and T cells, and the soluble form of CD226 (sCD226) is increased in diseases involving these cells. Therefore, we investigated the utility of serum sCD226 as a biomarker for TAK.
Methods
Serum sCD226 levels were measured using an enzyme-linked immunosorbent assay in 34 patients with TAK and 21 patients with giant cell arteritis (GCA). The associations between sCD226 levels and the angiographic classification, disease activity, and prognosis of TAK were analysed.
Results
Serum sCD226 levels were significantly higher in TAK patients than in GCA patients. In patients with TAK, serum sCD226 levels were significantly elevated in the group of type Ⅴ, which had the most extensive lesions, compared with the group of other types excluding type Ⅴ. Serum sCD226 levels were also elevated in patients with active TAK and in those with poor responses to corticosteroids. Regarding prognosis, the cumulative probability of relapse was higher in patients with high sCD226 levels than in those with low sCD226 levels.
Conclusions
Serum sCD226 levels differentiated TAK from GCA and were associated with disease activity and relapse of TAK. Serum sCD226 may be a useful biomarker for the management of TAK.
Long term follow-up of patients with newly diagnosed glioblastoma treated by intraoperative photodynamic therapy: an update from the INDYGO trial (NCT03048240)
Authors: Peciu-Florianu Iulia , Vannod-Michel Quentin , Vauleon Enora , Bonneterre Marie-Edith , Reyns Nicolas 
Published: March 2024

Abstract

Purpose
Glioblastoma remains incurable despite optimal multimodal management. The interim analysis of open label, single arm INDYGO pilot trial showed actuarial 12-months progression-free survival (PFS) of 60% (median 17.1 months), actuarial 12-months overall survival (OS) of 80% (median 23.1 months). We report updated, exploratory analyses of OS, PFS, and health-related quality of life (HRQOL) for patients receiving intraoperative photodynamic therapy (PDT) with 5-aminolevulinic acid hydrochloride (5-ALA HCl).
Methods
Ten patients were included (May 2017 – April 2021) for standardized therapeutic approach including 5-ALA HCl fluorescence-guided surgery (FGS), followed by intraoperative PDT with a single 200 J/cm2 dose of light. Postoperatively, patients received adjuvant therapy (Stupp protocol) then followed every 3 months (clinical and cerebral MRI) and until disease progression and/or death. Procedure safety and toxicity occurring during the first four weeks after PDT were assessed. Data concerning relapse, HRQOL and survival were prospectively collected and analysed.
Results
At the cut-off date (i.e., November 1st 2023), median follow-up was 23 months (9,7–71,4). No unacceptable or unexpected toxicities and no treatment-related deaths occurred during the study. Kaplan-Meier estimated 23.4 months median OS, actuarial 12-month PFS rate 60%, actuarial 12-month, 24-month, and 5-year OS rates 80%, 50% and 40%, respectively. Four patients were still alive (1 patient free of recurrence).
Conclusion
At 5 years-follow-up, intraoperative PDT with surgical maximal excision as initial therapy and standard adjuvant treatment suggests an increase of time to recurrence and overall survival in a high proportion of patients. Quality of life was maintained without any severe side effects.
Unfolded proteins in the mitochondria activate HRI and shut-down of mitochondrial protein translation
Authors: Wu Yongshu , Yang Yang , Qin Xiaodong , Zhang Zhixiong , Ullah Munib , Li Yanmin , Zhang Zhidong 
Published: March 2024

Abstract
Mitochondrial unfolded protein response (UPRmt) is triggered through eIF2α phosphorylation in mammal. However, the mechanisms of UPRmt activation and the influence on mitochondrial protein translation through eIF2α phosphorylation remain unclear. In this study, we confirmed that UPRmt was a rapid and specific stress response through eIF2α phosphorylation with pharmacological induction, along with the protein expression of eIF2α phosphorylation, ATF4, and CHOP. Meanwhile, with the up-regulation of some chaperones, cytochrome P450 enzymes, and DDIT4 determined by RNA-Seq and ribosome profiling, eIF2α phosphorylation is essential for expressing ATF4 and CHOP, then ATF4 traffics into the nucleus and initiates CHOP expression. In addition, the generation of ROS and mitochondrial morphology was unchanged under GTPP induced UPRmt. Furthermore, we unraveled the mechanism that HRI kinase mediates UPRmt induced with mitochondrial unfolded proteins by CRISPR-Cas9 technology and mitochondrial recruitment of HRI and interaction with other proteins. Meanwhile, we confirmed that mitochondrial protein translation and the number of mitochondrial protein imports were inhibited through eIF2α phosphorylation with the accumulation of mitochondrial unfolded protein. These findings provide the molecular mechanism of UPRmt and the impact on cellular protein translation, which will offer a novel insights into the functional research of UPRmt, including its implications for human diseases and pathobiology.
Enhancing the efficiency of open quantum batteries via adjusting the classical driving field
Authors: Hadipour Maryam , Haseli Soroush 
Published: March 2024

Abstract

In the context of quantum information, a quantum battery refers to a system composed of quantum particles that can store and release energy in a way that is governed by the principles of quantum mechanics. The study of open quantum batteries is motivated by the fact that real-world quantum systems are almost never perfectly isolated from their environment. One important challenge in the study of open quantum batteries is to develop theoretical models that accurately capture the complex interactions between the battery and its environment. the goal of studying open quantum batteries is to develop practical methods for building and operating quantum devices that can store and release energy with high efficiency and reliability, even in the presence of environmental noise and other sources of decoherence. The charging process of open quantum batteries under the influence of dissipative environment will be studied. In this Work, the effect of the classical driving field on the charging process of open quantum batteries will be investigated. The classical driving field can be used to manipulate the charging and discharging process of the battery, leading to enhanced performance and improved efficiency. It also will be showed that the efficiency of open quantum batteries depends on detuning between the qubit and the classical driving field and central frequency of the cavity and the classical driving field.
Economic Indicator-Based Power Quality Assessment of Distribution Network Incorporating Electric Vehicle Stations
Authors: Shi Shuaibin , Liu Yongli , Wang Qing , Cen Baoyi 
Published: March 2024

Abstract

The access of electric vehicle charging stations (EVCS) brings challenges to the stable operation of the distribution network.At present, there is a lack of indicator to quantify the economic losses caused by the decrease in power quality of the distribution network due to the access of EVCSs.In the paper, the travel trajectories of electric vehicle users are constructed through trip chain and state transition matrices,thereby obtaining the spatiotemporal distribution of charging loads.In addition, the voltage deviation and line loss caused by charging loads are unified into economic indicator to quantify.The simulations are conducted in a road network coupled to the IEEE 33-node distribution network.The result shows that the charging load of electric vehicle charging stations have a significant impact on the power quality of the distribution network.At the same time, optimizing the location of charging stations and guiding electric vehicle users’ charging behaviorcan effectively improve the power quality and economic efficiency of distribution networks.
Surfactant-tolerant Cathodes for Electrochemical Generation of Hydrogen Peroxide for Wastewater Treatment
Authors: Malevich Dzmitry , Mypati Sreeman , Ray Sreemoyee Ghosh , Dinh Cao-Thang , Barz Dominik P.J. 
Published: March 2024

Abstract
Cathode materials based on carbon substrates are of high interest for the electrochemical generation of hydrogen peroxide (H2O2) for wastewater treatment because of their low cost, chemical stability and high selectivity. However, the H2O2 selectivity of carbon materials can be significantly reduced in presence of surfactants, which are frequent contaminants in wastewater. Therefore, the development of surfactant-tolerant cathode materials is highly important. In this paper, composite electrodes comprising of polytetrafluoroethylene and carbon black on a carbon felt substrate were prepared. The effect of sodium dodecyl sulphate on the electrode activity was investigated. It was found that the electrodes prepared with high bulk density carbon black featured a high H2O2 Faradaic efficiency of 95% in surfactant-free solutions. These electrodes also showed significant surfactant tolerance having a 70% Faradaic efficiency in the presence of 1mM sodium dodecyl sulphate. The enhanced surfactant tolerance is attributed to the hydrophobic properties of the electrode surface.
Integrating remote sensing and field measurement data to estimate rain-fed chickpea yield
Authors: Momenpour Seyed Erfan , Bazgeer Saeed , Moghbel Masoumeh 
Published: March 2024

Abstract
Prior studies evidenced that crop yield prediction was mostly focused on cereals, including wheat, corn and rice. However, combining the use of field and satellite data to build regression models to predict chickpea yield has not been studied. This study aims to estimate rain-fed chickpea yield using field-measured data and remote sensing vegetation indices in Kermanshah County, the most productive chickpea region, in Iran. The ground data were collected from 14 fields near the rain gauge stations in 2022. The in-situ data measured include soil moisture, soil texture, and leaf area index (LAI). In addition, the remotely-sensed based indices, including Normalized Difference Vegetation Index (NDVI), Soil Adjusted Vegetation Index (SAVI), and Temperature Vegetation Dryness Index (TVDI) acquired from Landsat 8 and 9 satellites were employed to integrate into the regression models. The most optimal model was determined by applying the Bayes Information criterion (BIC), Mallows’ Cp, LASSO and Elastic Net Regression. The results indicated that the regression model based on the BIC and Cp statistics, incorporating two predictor variables, LAI and soil sand percentage, is the optimal model from the emergence to flowering stage. This model accurately predicted 87% of the variation in chickpea yield during testing, with RMSE = 46.4 kg.ha− 1 and MAE = 40.4 kg.ha− 1. The results revealed that the Bic and Cp can be employed to select the most accurate model with the smallest error for estimating the rain-fed chickpea yield. In addition, Agricultural import and export officials can utilize this simplistic model for planning purposes.
A case of blurry vision, headache and dizziness manifested as hypertensive retinopathy with papilledema in a patient with a recent diagnosis of peritoneal tuberculosis
Authors: Siraj Hashim Mohamed 
Published: March 2024

Abstract
Hypertension poses significant risks to various organ systems, including the eyes, leading to target-organ damage known as hypertensive retinopathy (HR). This case report explores the case of a 60-year-old male presenting with blurred vision, headache, and dizziness, ultimately diagnosed with grade IV hypertensive retinopathy. The patient had a complex medical history including hypertension, dyslipidemia, ischemic heart disease, diabetes mellitus, and peritoneal tuberculosis, with recent initiation of anti-tuberculosis therapy. Differential diagnoses encompassed various ocular and systemic conditions, highlighting the importance of a thorough evaluation. Fundoscopic examination revealed bilateral papilledema and flame hemorrhages consistent with hypertensive retinopathy. Management involved meticulous blood pressure control and ophthalmological referral. Collaboration between healthcare providers facilitated comprehensive care. Following treatment, the patient's blood pressure improved, necessitating adjustments in antihypertensive medications. This case underscores the critical role of recognizing ocular manifestations in hypertensive patients and the need for interdisciplinary management to mitigate systemic morbidity and mortality. Ongoing research is crucial to enhance diagnostic and therapeutic strategies for hypertensive retinopathy, ensuring optimal patient outcomes.
Developing Bullying Prevention Guidelines for Nurse Interns and its Effects on Their Assertiveness
Authors: yazied Lobna S. Abou El , Hassan Rabab M. , Badran Fawzia M. 
Published: March 2024

Abstract

Background
Bullying is a serious problem which had short and long term negative consequences on nurse interns behaviors. Bullying prevention guidelines have a great impact on reducing exposure to the bullying incidence among nurse interns.
Aim
The present study aimed to assess evaluate the effect of developing bullying prevention guidelines on nurse interns assertiveness level.
Methods
A methodological study design was used to conduct the study at Ain Shams University Hospitals in Cairo Governorate, Egypt. The study subjects were consisted of a purposive sample of 121 nurse interns. Data were collected using four tools; Bullying Knowledge Questionnaire, Negative act questionnaire [NAQ], Individual Bullying Behaviors In Clinical Practice Survey, and Assertiveness Inventory. Data analysis was performed using SPSS version 24, Qualitative categorical variables were compared using the chi-square test. A significant level value was considered when the p-value ≤ 0.01, and multivariate analysis, demonstrates statistically significant predictor of the score.
Results
Scores of bullying and assertiveness after implementation of the prevention guidelines were significantly improved among nurse interns 91.4%, 86.3% incidence of exposure to bullying compared with pre-test scores with 34.7, 11.8 [P < 0.001].
Conclusion
The bullying prevention guidelines was significantly reduce nurse interns bullying and improve their assertiveness. The study recommended dissemination and generalization of the developed bullying prevention guidelines at the different training settings.
Trial Registration Number [TRN]
The study protocol was approved by the Research Ethics Committee of the Faculty of Nursing, Ain Shams University (code number: NUR 23.9.128).