bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
Authors: Green Lydia , Hamilton Noémie , Elpidorou Marilena , Maroofian Reza , Douglas Andrew G.L. , Õunap Katrin , Rose Ailsa M.S. , Harris Erica L. , Elworthy Stone , Renshaw Stephen A. , Low Elizabeth C. , Dockrell David H. , Tveten Kristian , Wells Geoffrey , Harris Sarah A. , Al-Maawali Almundher , Al-Thihli Khalid , Al-Zuhaibi Sana , Futaisi Amna Al , Calame Daniel , Chinn Ivan , Fisher Kristen S. , Sa Mario , Warren Daniel , Zamani Mina , Sadeghian Saeid , Azizimalamiri Reza , Galehdari Hamid , Shariati Gholamreza , Seifi Tahere , Zaki Maha S. , Afzal Erum , Tarnopolsky Mark A. , Brady Lauren , Zuchner Stephan L. , Efthymiou Stephanie , Scardamaglia Annarita , Houlden Henry , Wakeling Emma , Prabhakar Prab , Roca-Bayerri Carla , Rice Gillian I. , Prouteau Clément , Bris Céline , Tessarech Marine , Sandvig Inger , Sheridan Eamonn G. , Johnson Colin A. , Livingston John H. , Crow Yanick J. , Poulter James A. 
Published: May 2024

Abstract

We describe eighteen individuals from twelve families with an autosomal recessive neurodevelopmental disorder and variable leukodystrophy harbouring biallelic variants in SUPV3L1. SUPV3L1 encodes the RNA helicase SUV3 (also known as SUPV3L1), with previous studies demonstrating a role for the protein as part of the mitochondrial degradosome. Patient mutations result in an accumulation of mitochondrial double stranded RNAs in human cells. An assessment of supv3l1 knock-out zebrafish confirmed the role of supv3l1 in neurodevelopment, with gross defects identified in mitochondrial biogenesis and microglial function. Zebrafish displayed a significant activation of the type 1 interferon pathway, which was supported by qPCR of blood RNA from four patients with biallelic SUV3 mutations. Altogether, we describe a clinico-radiological spectrum associated with biallelic SUPV3L1 mutations, demonstrating that loss of SUV3 function results in altered mitochondrial biogenesis, increased mitochondrial double stranded RNA, dysplastic microglia and activation of the type 1 interferon innate immune pathway.
Reducing the Percent of Surviving Infants with Acute Symptomatic Seizures Discharged on Anti-Seizure Medication
Authors: Sewell Elizabeth , Nangle Anne Marie , He Zhulin , Bhalla Sonam , Bullock Jessica , Carlson Alyssa , Dutt Monideep , Hamrick Shannon , Jones Passion , Piazza Anthony , Vale Allison 
Published: May 2024

Abstract

Objective: To evaluate the impact of inclusion of an ASM weaning protocol in a neonatal seizure pathway on the percent of infants discharged on ASMs.
Study Design: This cohort study included surviving infants with acute symptomatic seizures treated with ASMs. We evaluated infants in 2 epochs, pre- and post-implementation of the ASM weaning protocol. The primary outcome was discharge on ASM.
Results: Of 116 included infants, the percent of infants discharged on ASMs was 69% in epoch 1 versus 34% in epoch 2 (p<0.001). There was no significant difference between epochs in recurrence of seizures after discharge by 1 year of age (p=0.125). There was an annual decrease in the percent of infants discharged on ASM for both delivery and referral NICUs.
Conclusion: Inclusion of a formal ASM weaning protocol as part of an institutional seizure pathway reduced percent of infants with acute symptomatic seizures discharged on ASM.
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: A Multicenter Analysis
Authors: Bozkurt Hayrunnisa Bekis , Catak Feyza Bayram , Sahin Ali , Gungoren Ezgi Yalcin , Karaarslan Betul Gemici , Yakici Nalan , Altunbas Melek Yorgun , Catak Mehmet Cihangir , Can Salim , Amirov Razin , Bozkurt Selcen , Ozturk Necmiye , Eltan Sevgi Bilgic , Kasap Nurhan , Cetinkaya Fatma Bal , Orhan Fazil , Arga Mustafa , Cavkaytar Ozlem , Kiykim Ayca , Karakoc-Aydiner Elif , Ozen Ahmet , Baris Safa 
Published: May 2024

Abstract

Purpose: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by FOXP3 mutations, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate diagnosis and management of IPEX. We sought to present clinical, genetic, and immunological assessments of 12 IPEX patients with long-term follow-up to facilitate the diagnosis and management of the disease.
Methods: Clinical findings and treatment options of the patients were collected over time. Lymphocyte subpopulations, protein expressions, regulatory T (Treg) and circulating T follicular helper (cTFH) cells, and T-cell proliferation were analyzed. Results: Predominant presentations included chronic diarrhea (75%), failure to thrive (66.7%), and eczema (58.3%). There were four classical and eight atypical IPEX individuals. Strikingly, the classical triad of IPEX was observed only in one patient. Allergic manifestations were more common in atypical patients. Notably, infections and chronic diarrhea demonstrated heightened severity compared to other manifestations. Four patients (33.3%) demonstrated eosinophilia, and nine (75%) showed high serum IgE levels. Most patients showed normal percentages of Treg cells with reduced CD25, FOXP3, and CTLA-4 expressions. Compared to healthy controls, the TH2-like skewing accompanied by reduced TH17-like responses was observed in cTFH and Treg cells of patients. The impaired immune responses were corrected after hematopoietic stem cell transplantation (HSCT). Overall, nine patients (75%) received immunosuppressants (ISs), and six (50%) underwent HSCT, which was the only treatment revealing sustained control. Commonly used ISs included corticosteroids and sirolimus, but severe side effects led to therapy discontinuation in six patients.
Conclusions: This comprehensive analysis of clinical features and treatment responses contributes valuable insights for the improved diagnosis and management of IPEX syndrome, particularly emphasizing the atypical presentations and the efficacy of HSCT in achieving sustained control.
Correlation of Bone Age Development with Overweight and Obesity in 23305 Children from Beijing
Authors: Zhou Bo , Qu Xia , Li Minjun , Wang Xi , Xu Qi , Wang Jianhong , Liu Xiaoli , Zhang Lili , Zhang Ting , Gu Jialu , Zhou Lijun , Peng Nan , Niu Wenquan , Wang Lin 
Published: May 2024

Abstract

Purpose
The aim was to observe the influence of different nutritional status on bone age change according to BMI and analyze the risk of advanced bone age in overweight and obese children.
Methods
Total 23305 children from Beijing in this cross-section study were analyzed. Childhood overweight and obesity are defined according to the China and WHO growth criteria. Data are analyzed by STATA software and the R language version 4.3.0.
Results
Under China criteria, 29%, 15% and 4% of overweight boys, 33%, 33% and 3% of obese boys, while 39%, 25% and 2% of overweight girls, 37%, 42% and 1% of obese girls had advanced, significantly advanced and delayed BA. After adjustment, overweight (odds ratio, 95% confidence interval, P under China criteria: 2.52, 2.30 to 2.75, < 0.001 and 4.54, 4.06 to 5.09, < 0.001) and obesity (4.31, 3.85 to 4.82, < 0.001 and 14.01, 12.39 to 15.85, < 0.001) were risk factors of both advanced BA and significantly advanced BA.
Conclusions
Different nutritional status leads to different children's BA development, overweight and obese children have a higher rate of advanced BA under two growth criteria, and girls are more obvious than boys. Overweight and obesity were risk factors of advanced BA.
Explainable Machine Learning Model for Predicting the Risk of Significant Liver Fibrosis in Patients with Diabetic Retinopathy
Authors: zhu gangfeng , Yang Na , Yi Qiang , Xu Rui , Zheng Liangjian , Zhu Yunlong , Li Junyan , Che Jie , Chen Cixiang , Lu Zenghong , Huang Li , Xiang Yi , Zheng Tianlei 
Published: May 2024

Abstract

Background: Diabetic retinopathy (DR), a prevalent complication in patients with type 2 diabetes, has attracted increasing attention. Recent studies have explored a plausible association between retinopathy and significant liver fibrosis. The aim of this investigation was to develop a sophisticated machine learning (ML) model, leveraging comprehensive clinical datasets, to forecast the likelihood of significant liver fibrosis in patients with retinopathy and to interpret the ML model by applying the SHapley Additive exPlanations (SHAP) method.
Methods: This inquiry was based on data from the National Health and Nutrition Examination Survey 2005-2008 cohort. Utilizing the Fibrosis-4 index(FIB-4), liver fibrosis was stratified across a spectrum of grades (F0-F4). The severity of retinopathy was determined using retinal imaging and segmented into four discrete gradations. A ten-fold cross-validation approach was used to gauge the propensity towards liver fibrosis. Eight ML methodologies were used: Extreme Gradient Boosting (XGBoost), Random Forest, multilayer perceptron, Support Vector Machines, Logistic Regression, Plain Bayes, Decision Tree, and k-nearest neighbors. The efficacy of these models was gauged using metrics, such as the area under the curve (AUC). The SHAP method was deployed to unravel the intricacies of feature importance and explicate the inner workings of the ML model.
Results: The analysis included 5363 participants, of whom 2116 (39.45%) exhibited notable liver fibrosis. Following random allocation, 3754 individuals were assigned to the training set and 1610 were allocated to the validation cohort. Twelve variables were curated for integration into the ML model. Among the eight ML models scrutinized, the XGBoost model attained zenith in both AUC (0.977, 95% CI: 0.974-0.981) and F1 score (0.896, 95% CI: 0.885-0.907). In internal validation, this model sustained its superiority, with an AUC of 0.969 and an F1 score of 0.885, surpassing all other ML models. The SHAP methodology unveils the six foremost factors through importance ranking.
Conclusion: Sophisticated ML models were crafted using clinical data to discern the propensity for significant liver fibrosis in patients with retinopathy and to intervene early.
Decision for elective surgery - how well informed are patients and how easy is the decision for them?
Authors: Prediger Barbara , Könsgen Nadja , Schlumberger Fabian , Heinen Lena , Schlimbach Anna , Hess Simone , May Susann , Bruch Dunja , Liersch Sebastian , Sehlen Stephanie , Pieper Dawid 
Published: May 2024

Abstract

Background: Decisions for elective surgery are difficult for many patients and some regret them afterwards. The aim of this survey of patients who have undergone elective tonsillectomy/tonsillotomy (TE/TT), hysterectomy (HE) or shoulder arthroscopy (SA) was to investigate the decision process, need for information and need for second opinion.
Methods: In October 2020, n=8,862 persons insured at AOK Nordost who had undergone TE/TT, HE and SA were invited by post to participate. A reminder was sent in November 2020. Results were analysed descriptively.
Results: A total of n=1,633 responses were received (participation rate 18%). Around half (54 %) of the participants felt that the decision to undergo surgery was (very) easy. Overall, the participants felt (very) well informed about the benefits of surgery (79%), the disease (76%), treatment alternatives (66%) and the risks/ side effects of surgery (67%) after the consultation with the physician recommending surgery, 29 % sought a second opinion.
Conclusion: The majority of respondents seemed well informed after the consultation with the physician recommending surgery. Information about treatment alternatives and risks/ side effects of the surgery might be improvable. Prospective studies looking at the decision process before surgery would allow a clearer statement about contribution of aspects to an informed decision.
Stress Relaxation, another cause of “Pseudo Auto-Peep”?
Authors: Marchal Manuel Valdivia , Izurieta José Ricardo Naranjo , Carmona Ashlen Rodríguez , Pérez José Castaño , Centeno Guillermo Besso , Simón José Manuel Serrano 
Published: May 2024

Abstract

In critically ill patients receiving mechanical ventilation, a positive end-expiratory pressure greater than the applied externally (auto-PEEP) reflects dynamic hyperinflation of the lungs. The term “Pseudo Auto-Peep” (Bilen & Cohen, 1993) 1 was coined to describe a progressive increase in expiratory plateau pressure in prolonged occlusion, attributed to a retrograde flow of extraluminal gas into the airways. However, the mechanism has not been studied closely. We intend to describe another mechanism for this phenomenon, explained by stress relaxation due to inequalities in expiratory time constant (τE), manifested in inspiration and expiration.
Enhancing Competitive Advantage through a Strategic Product Portfolio and Design for Variety in Weather Radar Products
Authors: Azami Marzieh , Karbasian Mahdi , yousefian Sareh 
Published: May 2024

Abstract

In today's competitive industrial landscape, corporations must develop products with a wide range of options to stay ahead. High product quality and mass customization trends have driven industries to adopt product portfolio strategies, enhancing customer satisfaction and optimizing resource use. The design for variety (DFV) technique is crucial for managing product variety impact on costs. This abstract introduces a model for improving weather radar product design by integrating various methodologies for an optimal product structure. By carefully considering competitive advantages and expanding product portfolios, corporations can enhance market share and meet customer needs effectively
Fine-Tuning for Accuracy: Evaluation of GPT for Automatic Assignment of ICD Codes to Clinical Documentation
Authors: Nawab Khalid , Fernbach Madalyn , Atreya Sayuj , Asfandiyar Samina , Khan Gulalai , Arora Riya , Hussain Iqbal , Hijjawi Shadi , Schreiber Richard 
Published: May 2024

Abstract

Background:
Assignment of International Classification of Disease (ICD) codes to clinical documentation is a tedious but important task that is mostly done manually. This study evaluated the widely popular OpenAI’s Generative Pretrained Model (GPT) 3.5 Turbo in facilitating the automation of assigning ICD codes to clinical notes.
Methods:
We identified the 10 most prevalent ICD-10 codes in the Medical Information Mart for Intensive Care (MIMIC-IV) dataset. We selected 200 notes for each code, and then split them equally into two groups of 100 each (randomly selected) for training and testing. We then passed each note to GPT 3.5 Turbo via OpenAI’s API, prompting the model to assign ICD-10 codes to each note. We evaluated the model’s response for the presence of the target ICD-10 code. After fine-tuning the GPT model on the training data, we repeated the process with the test data, comparing the fine-tuned model’s performance against the default model.
Results:
Initially the target ICD-10 code was present in the assigned codes by the default GPT 3.5 Turbo model in 29.7% of the cases. After fine-tuning with 100 notes for each top code, the accuracy improved to 62.6%.
Conclusions:
Historically, GPT’s performance for healthcare related tasks is sub-optimal. Fine-tuning as in this study provides great potential for improved performance, highlighting a path forward for integration of Artificial Intelligence (AI) in healthcare for improved efficiency and accuracy of this administrative task. Future research should focus on expanding the training datasets with specialized data and exploring the potential integration of these models into existing healthcare systems to maximize their utility and reliability.
Designing strategies to reach the maximum number of women for comprehensive knowledge of Human Immunodeficiency Virus (HIV)
Authors: Sarkar Jaimini , Sarkar Chiradeep 
Published: May 2024

Abstract

Introduction:
Globally women are the major victims of socio-economic and political inequalities. This applies equally to stigma and discrimination related to HIV awareness and treatment. India has the second largest HIV epidemic in the world with 2.467 million people living with HIV in 2023. India shares 6.3% of global cases of people living with HIV. The biggest challenge is not only to reach all HIV-infected people but also to reach the maximum number of people for counseling and testing to avoid future transmission. There is a need to frame cost-effective, rapid, and confidential awareness strategies that will eventually encourage people to HIV testing.
Design:
Anonymized, publicly available data of the India National Family Health Survey (NFHS-5) and ASHAs per state is collected from the Ministry of Health and Family Welfare, India. The sample consisted of 724,115 women of 15–49 years of age and were sub-grouped as urban and rural women. Descriptive statistical analysis, linear regression analysis, and Pearson correlation coefficient analysis were done for the data.
Results:
The multiple linear regression equation for women with comprehensive HIV knowledge (%) Y is ŷ = -0.19433X1 + 0.32387X2 + 12.32505 where X1 is the percentage of ASHAs per state and X2 is the percentage of women with Internet access. It shows an R square value of 0.2338 for an overall p-value of 0.0123. Pearson correlation indicated that there is a non-significant medium negative relationship between ASHAs per state (%) and women with knowledge of HIV (%) (r = -0 .315, p = 0.061). Whereas, the results of the Pearson correlation indicated that there is a significant medium-positive relationship between the percentage of women with internet access and the percentage of women with comprehensive knowledge of HIV, (r = 0 .481, p = 0.003).
Conclusion:
More urban women have access to the Internet as compared to rural women, which may be the reason why the knowledge of HIV is higher in urban women as compared to their rural counterparts. Internet access to women is more beneficial in states where the rate of literacy is high. In areas where internet access and understanding content in English is an issue, community health workers can provide better support to spread awareness about HIV.
Side of chute does not affect the sensitivity of Tritrichomonas foetus sample collection in bulls when using dominant hand for collection
Authors: Koziol J. , Fritzler J. , Gibbons P. , Boggan S. 
Published: May 2024

Tritrichomonas foetus, a sexually transmitted disease in cattle, continues to plague the cattle industry despite years of control programs. One reason for this continued prevalence through­out the U.S. and the world is that accurate diagnosis is compli­cated in the fact that retrieval of organisms for diagnosis and subsequent testing may be compromised by multiple factors in­cluding, but not limited to, how samples are collected.
A commonly used sampling technique for diagnosing T. foetus in bulls is scraping of the preputial and penile mucosa with ei­ther an artificial insemination pipette or specially designed T. foetus testing device such as the Pizzle Stick Trich Testing De­vice (Lane Manufacturing Denver, CO). Parker et al. noted that right-hand dominant practitioners were more commonly suc­cessful in retrieving T. foetus in known positive bulls when col­lecting from the right side of the bull compared to the left; how­ever, the opposite was not investigated for left-hand dominant practitioners and only cultures were used to declare whether a sample was positive or not. The objective of this study was to determine if using current RT-qPCR testing if there is a differ­ence in rate of positive tests pending side of chute and use of dominant hand for testing.
Assessing the impact of digital financial inclusion on green total factor productivity of grain in China: promotion or inhibition?
Authors: Ma Wenjiang , Zhang Qing , Amar Nimra , Bai Miaoqin , Yang Zhongna , Shi Jing 
Published: May 2024

Abstract
This study investigates the influence of digital financial inclusion on green total factor productivity of grain in China, using data from 30 provinces (excluding Tibet) from 2011 to 2020. Our findings reveal a dual role of digital finance: it significantly enhances green productivity of grain in central and eastern China but has a contrasting effect in the western regions. The research also uncovers a unique pattern where the benefits of digital finance in one area can negatively affect nearby regions. This research contributes significantly to the discourse on finance and agriculture, providing nuanced perspectives on the regional implications of digital financial inclusion for grain productivity, and thereby enriching the understanding of its role in agrarian economies.
Advancing Corporate Social Responsibility: Development of a Measurement Scale Unveiling Organizational Citizenship Behaviors in Culturally Diverse Environments
Authors: Morin Geneviève , Talbot David 
Published: May 2024

Abstract

Objective
The modern concept of corporate social responsibility (CSR) is increasingly becoming integrated into the practices of organizations. One of the distinctive individual competencies in CSR is the ability to work in a multicultural environment. This study proposes a suitable empirical measurement tool that facilitates understanding organizational citizenship behaviors focused on cultural diversity (OCBCs).

Methodology
To validate the OCBC measure, 980 participants completed the questionnaire (n = 980). An exploratory factor analysis (EFA) was conducted on one part of the sample as a prerequisite to a confirmatory factor analysis (CFA) on the other part of the sample.

Finding
This tool enabled the identification of two main types of OCBCs: cultural initiative and cultural helping. These actions enhance organizational practices for integrating cultural diversity and promoting diverse cultural values.

Value Added
This study furthers the understanding of OCBCs and the role of individuals in culturally diverse contexts. This study contributes to international human resource management research and practice by developing an instrument for use in expatriate contexts or in those associated with organizational cultural diversity. It provides a deeper look at OCBs and contributes to the scientific literature on the role of human resources in promoting sustainable development in organizations.

Recommendations
The OCBCs measurement tool could assist human resource managers seeking to encourage and facilitate the performance of appropriate OCBCs in the workplace. This performance will allow OCBCs to facilitate informal learning.
An Analysis of Methods and Techniques Used for Business Process Improvement
Authors: Krhač Andrašec Eva , Urh Benjamin , Roblek Matjaž , Kern Tomaž 
Published: May 2024

Abstract

Background
More than 50 process-based approaches, methods, and techniques have been developed in recent decades to achieve more efficient operation of organizational systems. Due to increasingly rapid changes in the business environment, the question of which method or technique will have the most significant impact on increasing the organizational system’s competitive advantage is becoming increasingly important.

Purpose
In the presented research, we focused on identifying methods and techniques often cited in the literature and most often used in practice as efficient for improving business processes.

Methods
We prepared a 4-phase structured review of the available literature and supported the findings with survey research.

Results and Conclusion
Based on the results, we designed a set of appropriate, most frequently used, and efficient methods and techniques for improving business processes. The completed research can serve as a starting point for answering the question about the appropriate methods and techniques for the chosen approach. In continuing the research, it would be reasonable to check other properties and the use of methods and techniques.