bluuebunny/crossref_metadata_2025_split huggingface dataset:
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia
Authors: Symonds Joseph D. , Park Kristen L. , Mignot Cyril , Macleod Stewart , Armstrong Martin , Ashrafian Houman , Bernard Geneviève , Brown Kathleen , Brunklaus Andreas , Callaghan Mary , Classen Georg , Cohen Julie S. , Cutcutache Ioana , de Sainte Agathe Jean‐Madeleine , Dyment David , Elliot Katherine S. , Isapof Arnaud , Joss Shelagh , Keren Boris , Marble Michael , McTague Amy , Osmond Matthew , Page Matthew , Planes Marc , Platzer Konrad , Redon Sylvia , Reese James , Saenz Margarita , Smith‐Hicks Constance , Stobo Daniel , Stockhaus Christian , Vuillaume Marie‐Laure , Wolf Nicole I. , Wakeling Emma L. , Yoon Grace , Knight Julian C. , Zuberi Sameer M. 
Published: September 2024

AbstractObjectivePOLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non‐coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy. Three of these individuals had epileptic seizures.The aim of this article is to precisely define the epilepsy phenotype associated with de novo heterozygous POLR3B variants.MethodsWe used online gene‐matching tools to identify 13 patients with de novo POLR3B variants. We systematically collected genotype and phenotype data from clinicians using two standardized proformas.ResultsAll 13 patients had novel POLR3B variants. Twelve of 13 variants were classified as pathogenic or likely pathogenic as per American College of Medical Genetics (ACMG) criteria. Patients presented with generalized myoclonic, myoclonic‐atonic, atypical absence, or tonic‐clonic seizures between the ages of six months and 4 years. Epilepsy was classified as epilepsy with myoclonic‐atonic seizures (EMAtS) in seven patients and “probable EMAtS” in two more.Seizures were treatment resistant in all cases. Three patients became seizure‐free. All patients had some degree of developmental delay or intellectual disability. In most cases developmental delay was apparent before the onset of seizures. Three of 13 cases were reported to have developmental stagnation or regression in association with seizure onset.Treatments for epilepsy that were reported by clinicians to be effective were: sodium valproate, which was effective in five of nine patients (5/9) who tried it; rufinamide (2/3); and ketogenic diet (2/3).Additional features were ataxia/incoordination (8/13); microcephaly (7/13); peripheral neuropathy (4/13), and spasticity/hypertonia (6/13).SignificancePOLR3B is a novel genetic developmental and epileptic encephalopathy (DEE) in which EMAtS is the predominant epilepsy phenotype. Ataxia, neuropathy, and hypertonia may be variously observed in these patients.
Gender gap in investment performance revisited: The role of attention
Authors: Davydov Denis , Eskner Karl , Peltomäki Jarkko 
Published: September 2024

AbstractThis paper revisits the effect of gender on portfolio performance, exploring the hypothesis that investors may derive fewer benefits from increased financial attention due to disparities in financial confidence. Using data from trading accounts of over 745,000 investors, we find that the difference in investment performance between men and women depends on the level of attention that they pay to their portfolios. Furthermore, our results indicate that the positive effects of investor attention are primarily attributable to young men, who appear to benefit the most from heightened attentiveness.
An urbanized phantom tributary subsidizes river–riparian communities of a mainstem gravel‐bed river
Authors: Negishi J. N. , Song Y. Y. , Matsubara I. , Morisaki N. 
Published: September 2024

Abstract

Urbanization transforms natural river channels, and surface water of some rivers disappeared over time. How and whether the subsurface domains of the original waterways and aquifers connecting them (a phantom of historical landscape) are functional is not known. This study examined the effects of tributary groundwater inflow on the response of river–riparian organisms in an alluvial mainstem river in northern Japan, where the tributary disappeared over the course of urban landscape transformation.

A 2.8‐km lowland segment of the mainstem gravel‐bed river was examined for water properties and the river–riparian food web. In addition, watershed‐wide water sampling was conducted to isotopically distinguish several types of groundwater that contributed to the hyporheic water in the study segment. Altitude had a clear effect on the hydrogen/oxygen stable isotope ratios in the river water collected across the watershed.

Groundwater unique both in chemical and isotopic signatures occurred in several spots within the study segment, and its properties resembled and its upwelling locations matched groundwater from a tributary river whose surface channel disappeared 60 years ago. Positive numerical increases in abundance and/or a sign of nitrogen transfer in river–riparian communities (algae, invertebrates and riparian trees) originating from groundwater high in nitrate with elevated nitrogen stable isotope ratios were found.

We demonstrated that tributary groundwater with unique chemical properties manifested by an urban watershed river network continued to have trophic effects on biota across the river–riparian boundary in the mainstem river, even after urbanization transformed the tributary into a phantom river. We highlighted the legacy effects of landscape transformation in the subsurface domain and the significance of scrutinizing the past landscape and hydrological connectivity at the watershed scale in urban environments.
Exploring the Safewards Programme to Reduce Restrictive Practices in Residential Aged Care: Protocol for a Pilot and Feasibility Study
Authors: Dawson Suzanne , Oster Candice , Page Michael , George Stacey 
Published: September 2024

ABSTRACTIntroductionRestrictive practice use in residential aged care homes internationally is unacceptably high. Although policies and legislation mandate the reduction or elimination of restrictive practices, there remains a gap in knowledge regarding strategies that have been effective in achieving a sustained reduction in restraint use. There is an urgent need to identify effective and feasible interventions that aged care staff can implement in everyday practice to reduce restraint use. Safewards is an evidence‐based programme that has demonstrated effectiveness in reducing conflict and restrictive practice use in inpatient psychiatric settings and has the potential to address the issue of restraint use in aged care homes. This study aims to evaluate the feasibility of Safewards in reducing restrictive practices in residential aged care homes.MethodsThis pilot and feasibility study will adopt a mixed methods process and outcomes evaluation. Safewards will be implemented in two Australian residential aged care homes. The Reach, Effectiveness, Adoption, Implementation and Maintenance framework will be used to evaluate implementation outcomes. Additionally, the Consolidated Framework for Implementation Research will be used to guide qualitative data collection (including semi‐structured interviews with residents/family members, aged care leaders and staff) and explain the facilitators and barriers to effective implementation.ConclusionThis study will provide pilot evidence on the feasibility of the Safewards programme in residential aged care homes. Understanding the processes and adaptations for implementing and evaluating Safewards in residential aged care will inform a future trial in aged care to assess its effectiveness. More broadly, the findings will support the implementation of an international aged care policy of reducing restrictive practices in residential aged care.Patient or Public ContributionA person with lived experience of caring for someone with dementia is employed as a Safewards facilitator and is a member of the steering committee. Residents and family members will be invited to participate in the project steering committee and provide feedback on their experience of Safewards.Trial RegistrationACTRN12624000044527.
How maternal factors shape the immune system of breastfed infants to alleviate food allergy: A systematic and updated review
Authors: Wu Yuhong , Chen Bihua , Wu Huan , Gao Jinyan , Meng Xuanyi , Chen Hongbing 
Published: September 2024

AbstractWhat infants eat early in life may shape the immune system and have long‐standing consequences on the health of the host during later life. In the early months post‐birth, breast milk serves as the exclusive and optimal nourishment for infants, facilitating crucial molecular exchanges between mother and infant. Recent advances have uncovered that some maternal factors influence breastfed infant outcomes, including the risk of food allergy (FA). To date, accumulated data show that breastfed infants have a lower risk of FA. However, the issue remains disputed, some reported preventive allergy effects, while others did not confirm such effects, or if identified, protective effects were limited to early childhood. The disputed outcomes may be attributed to the maternal status, as it determines the compounds of the breast milk that breastfed infants are exposed to. In this review, we first detail the compounds in breast milk and their roles in infant FA. Then, we present maternal factors resulting in alterations in breast milk compounds, such as maternal health status, maternal diet intake, and maternal food allergen intake, which subsequently impact FA in breastfed infants. Finally, we analyze how these compounds in breast milk alleviated the infant FA by mother‐to‐infant transmission. Altogether, the mechanisms are primarily linked to the synergetic and direct effects of compounds in breast milk, via promoting the colonization of gut microbiota and the development of the immune system in infants.
Global prevalence of teething problems in infants and children—A systematic review and meta‐analysis
Authors: Garima Jhunjhunwala , Mathur Vijay Prakash , Tewari Nitesh , Rahul Morankar , Sultan Farheen , Haldar Partha , Bansal Kalpana , Upadhyay Ashish Datt 
Published: September 2024

AbstractBackgroundEruption of primary teeth is associated with local and systemic manifestations. Understanding the global prevalence is necessary to formulate the standard guidelines for management.AimTo evaluate the global prevalence of problems associated with teething in infants and children aged 0–36 months.DesignPubMed, LILACS, Web of Science, Scopus, and EMBASE were searched on May 31, 2023, and it was updated on January 31, 2024. Gray literature and reference search were performed. Cross‐sectional, case–control, and cohort studies done in hospital or community settings, reporting the prevalence of signs and symptoms during the eruption of primary teeth in infants aged 0–36 months, were included. Two reviewers extracted data using a pre‐piloted sheet. Data were analyzed and pooled by using random‐effects meta‐analyses.ResultsTwenty‐five studies were included. The global prevalence of teething problems was 80.0% (95% confidence interval [CI]: 67.8–89.9). The most common local symptom was increased biting (65.9%, 95% CI 37.5–89.3), and irritability (60.7%, 95% CI 50.6–70.3) was the most common general symptom.ConclusionThe pooled prevalence of teething problems was estimated to be 80%. There was a variability in the prevalence of teething problems based on geographic location.
Hepatic retransplantation: University of Nebraska Medical Center experience
Authors: Saito S. , Langnas A. N. , Stratta R. J. , Wood R. P. , Shaw B. W. , Matsuno T. , Markin R. S. 
Published: September 2024

The lack of an artificial liver makes liver retransplantation a unique, life‐saving procedure when all the other alternatives to save a failed graft have been exhausted. On the other hand, the shortage of donors in line with the increasing number of end‐stage liver disease patients who are waiting in long recipient lists represents a dilemma and raises the question of most appropriate recipient selection. In this report, we retrospectively analyzed the results of 350 primary, 48 secondary, and 5 tertiary hepatic transplants performed between July 1985 and January 1990 at University of Nebraska Medical Center. The same immunosuppression protocol was used in each case and the maintenance immunosuppressive therapy consisted of cyclosporine (CyA) and steroids. The overall survival rate of 80.5% at 1 year which was achieved in the primary grafting group was significantly better than the secondary grafting group (63.0%, p<0.05). However, this difference was not significant in pediatric patients and their survival rates were 73.8% and 71.6% in primary and secondary grafting groups, respectively. When the retransplanted patients were considered as deaths unless secondary grafting was performed, the overall patient survival rate of 69.7% in primary grafting group at 1 yr increased to 77.8% in the retransplanted group and this difference was significant (p<0.05). Blood loss and operating time were found to be lower in the retransplanted group. Furthermore, the decrease of the operating time in the retransplanted pediatric patients reached statistical significance (p<0.05). Retransplantation of the liver, when compared with primary grafting, was not associated with any further technical difficulties and in the light of our results appeared to be even less troublesome, particularly in early retransplants. In conclusion, we believe that retransplantation of the liver has a significant impetus on patient survival and there are firm grounds for optimism about its future.
Complex partial seizure, an unusual complication of cyclosporine in renal transplantation
Authors: Arora P. , Kohli A. , Kher V. , Sharma R. K. , Gupta A. , Bhandari M. 
Published: September 2024

We report a case of a renal allograft recipient who developed complex partial seizure at a maintenance dose of cyclosporine, which reversed following cyclosporine withdrawal. This type of seizure at low dose (2.5 mg/kg) has not been reported previously.
Acute rejection following renal transplantation. Evidence that severity is the best predictor of subsequent graft survival time
Authors: Pelletier Ronald P , Cosio Fernando , Henry Mitchell L , Bumgardner Ginny L , Davies Elizabeth A , Elkhammas Elmahdi A , Ferguson Ronald M 
Published: September 2024

Timely recognition of risk factors influencing graft survival time following kidney transplantation could facilitate the development of clinical interventions that would increase the longevity of graft survival. To identify these risk factors, we performed a retrospective analysis of the clinical outcome of 1949 renal transplants performed at The Ohio State University Transplant Program between 22 September 1982 and 14 June 1996. The number of acute rejection (AR) episodes was most predictive of shorter graft survival time. The first AR episode severity (indexed using the difference between post‐treatment serum creatinine (RxCr) and baseline serum creatinine (BCr), or DeltaCr= RxCr BCr) was the best predictor of graft survival time (r = 0.27, p<0.0001) in patients experiencing AR. Subsequent AR episodes occurred more frequently in patients with a higher DeltaCr. However, DeltaCr was the best predictor of graft survival time (r = 0.44, p < 0.0001) in patients who had only one AR episode. The severity of the first AR episode (DeltaCr) correlated with the risk of subsequent AR episodes, the severity of a second AR episode and the average of mean blood pressures obtained after, but not before, the first AR episode. Therefore, we conclude that the severity of the first AR episode was the best predictor of renal allograft survival time in all patients experiencing AR, independent of subsequent AR episodes and correlated with subsequent clinical events which also influence renal allograft survival time. Thus, early diagnosis and aggressive treatment of the first AR episode are warranted to minimize AR severity and thereby maximize subsequent graft survival time.ConclusionsThe severity of the first acute rejection episode following renal transplantation is the best determinant of graft survival time and correlates with subsequent clinical events which could further reduce graft survival time.
Predicting the potential associations between circRNA and drug sensitivity using a multisource feature‐based approach
Authors: Yin Shuaidong , Xu Peng , Jiang Yefeng , Yang Xin , Lin Ye , Zheng Manyu , Hu Jinpeng , Zhao Qi 
Published: September 2024

AbstractThe unique non‐coding RNA molecule known as circular RNA (circRNA) is distinguished from conventional linear RNA by having a longer half‐life, greater degree of conservation and inherent solidity. Extensive research has demonstrated the profound impact of circRNA expression on cellular drug sensitivity and therapeutic efficacy. There is an immediate need for the creation of efficient computational techniques to anticipate the potential correlations between circRNA and drug sensitivity, as classical biological research approaches are time‐consuming and costly. In this work, we introduce a novel deep learning model called SNMGCDA, which aims to forecast the relationships between circRNA and drug sensitivity. SNMGCDA incorporates a diverse range of similarity networks, enabling the derivation of feature vectors for circRNAs and drugs using three distinct calculation methods. First, we utilize a sparse autoencoder for the extraction of drug characteristics. Subsequently, the application of non‐negative matrix factorization (NMF) enables the identification of relationships between circRNAs and drugs based on their shared features. Additionally, the multi‐head graph attention network is employed to capture the characteristics of circRNAs. After acquiring the characteristics from these three separate components, we combine them to form a unified and inclusive feature vector for each cluster of circRNA and drug. Finally, the relevant feature vectors and labels are inputted into a multilayer perceptron (MLP) to make predictions. The outcomes of the experiment, obtained through 5‐fold cross‐validation (5‐fold CV) and 10‐fold cross‐validation (10‐fold CV), demonstrate SNMGCDA outperforms five other state‐of‐art methods in terms of performance. Additionally, the majority of case studies have predominantly confirmed newly discovered correlations by SNMGCDA, thereby emphasizing its reliability in predicting potential relationships between circRNAs and drugs.
Hurricane surge and inundation in the Bahamas, part 1: Storm surge model
Authors: Grey Stephen , Turnbull Michael , Simmons Jeffrey 
Published: September 2024

AbstractA storm surge model has been developed as part of a pilot study for The Commonwealth of the Bahamas. The hydrodynamic model, TELEMAC‐2D, is used to simulate the response of water level to tide and the wind and atmospheric pressure fields of hurricanes and subsequent inundation over land. The model is used by The Bahamas Department of Meteorology to forecast storm surge and flooding over the islands of Grand Bahama and Eleuthera for incoming hurricanes to assist in preparation for and management of hurricane surge events and has been used in a flood risk assessment, reported in a companion paper. The model has been optimised to run quickly while also resolving the bathymetry and topography that affect the development and propagation of storm surge. Wind fields are generated within TELEMAC‐2D based on hurricane warning bulletins. The model has been validated for its representation of water level and against tide gauge measurements during four historical hurricanes: Irene, Sandy, Matthew and Dorian. Factors contributing to uncertainty in forecast predictions are discussed and recommendations are provided to improve the performance in future. The pilot study provides a template for future expansion to cover the other inhabited islands of The Bahamas.
Hurricane surge and inundation in the Bahamas, part 2: Flood risk assessment
Authors: Grey Stephen , Liu Ye , Simmons Jeffrey 
Published: September 2024

AbstractA hurricane surge and inundation risk assessment has been carried out for Grand Bahama and Eleuthera in The Bahamas. 10,000 years of synthetic hurricane tracks were generated based on a statistical analysis of historical hurricanes from 1979 to 2020 inclusive. The surge and inundation were modelled using a hydrodynamic TELEMAC‐2D model covering sea around The Bahamas and the land of the two islands. Predictions of flood extents and depths were mapped for return periods of up to 1000 years for present day conditions and three climate change scenarios to 2100. The flooding experienced over Grand Bahama during Hurricane Dorian in 2019, was estimated to have a return period of up to approximately 450 years. Under the climate change scenarios the likelihood of flooding similar to Hurricane Dorian was estimated to be approximately 1.7 times more likely in 2050 and up to 3.4 times as likely in 2100 under a high greenhouse gas emissions scenario. The storm surge maps can be used by the Bahamas Department of Meteorology and other government agencies for emergency management, planning of infrastructure and building resilience in response to climate change.
Interplay among IL1R1, gut microbiota, and bile acids in metabolic dysfunction‐associated steatotic liver disease: a comprehensive review
Authors: Ku Jie‐Lun , Hsu Jia‐Rou , Li Yung‐Tsung , Wu Li‐Ling 
Published: September 2024

AbstractMetabolic dysfunction‐associated steatotic liver disease (MASLD) is a prevalent metabolic disorder characterized by hepatic steatosis associated with metabolic abnormalities. Recent research has shed light on the intricate interplay among interleukin‐1 receptor 1 (IL1R1), gut microbiota, and bile acids in the pathogenesis of MASLD. This review aims to provide a comprehensive overview of the current understanding of the role of IL1R1, gut microbiota, and bile acids in MASLD, exploring their interrelationships and potential mechanisms. We summarize the evidence supporting the involvement of IL1R1 in inflammation, discuss the influence of gut microbiota on bile acid metabolism and its influence on liver health, and elucidate the bidirectional interactions among IL1R1 signaling, gut microbiota composition, and bile acid homeostasis in MASLD. Furthermore, we highlight emerging therapeutic strategies targeting these interrelated pathways for the management of MASLD.
Co‐Infection of Bertiella studeri and Mycobacterium tuberculosis in a Captive Rhesus Macaque (Macaca mulatta)
Authors: Min Fangui , Huang Shuwu , Wu Ruike , Zhang Lan , Wang Jing 
Published: September 2024

ABSTRACTBertiella studeri, a typical intestinal cestode of nonhuman primates, accidentally infects human beings. However, B. studeri infection in monkeys has been rarely reported in recent years. A case of B. studeri infection was identified in one captive rhesus macaque with natural infection of Mycobacterium tuberculosis. This study contributes to alerting the public of this helmintic zoonosis, though its infection rate is quite lower in recent years.