bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
Authors: Dilanthi Hewa Warawitage , Jayasena Kandana Liyanage Subhashinie , Dhammika Nambage Dona Priyani , Indika Neluwa Liyanage Ruwan , De Silva Matara Mahavidanage Nishani , Kankananarachchi Imalke , Punchihewa Pushpa Malkanthi Gardiye , Irugalbandara Dharma , Schroeder Sabine , Karunaratne Kosala , Jasinge Eresha 
Published: January 2025

ABSTRACTHomocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in CBS gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to date. The objective of this study was to identify the genotypes and genotype–phenotype correlations in a cohort of Sri Lankan patients with homocystinuria due to CBS deficiency. We determined the variants in CBS gene in 14 Sri Lankan patients with homocystinuria, from 9 unrelated families. The clinical features and the biochemical response to pyridoxine were studied for further correlations. Among the 14 patients, the common clinical features were ectopia lentis (100%), intellectual disability (92%) and marfanoid features (78%) at presentation while three of them had developed osteoporosis (21%). Median age at diagnosis was 8 years (range 2–12). Three pathogenic variants (c.1006C>T, c.785C>T and c.19del) and two likely pathogenic variants (c.869C>T, c.772G>A) in CBS gene were identified. Thirteen patients with homozygous genotypes were non‐responsive to pyridoxine while the only patient with the compound heterozygous genotype (c.869C>T/c.772G>A) responded to pyridoxine treatment. The genotypic spectrum observed in Sri Lankan patients is unique and mostly associated with pyridoxine non‐responsiveness. The majority of the patients were identified clinically at a later stage of the disease due to lack of a screening programme in the country. Therefore, it is important to improve the awareness of the disease among the clinicians in the interest of early diagnosis and early commencement of metabolic treatment.
Thalamic Magnetic Susceptibility (χ) Alterations in Neurodegenerative Diseases: A Systematic Review and Meta‐Analysis of Quantitative Susceptibility Mapping Studies
Authors: Ghaderi Sadegh , Mohammadi Sana , Ahmadzadeh Amir Mahmoud , Darmiani Kimia , Arab Bafrani Melika , Jashirenezhad Nahid , Helfi Maryam , Alibabaei Sanaz , Azadi Sareh , Heidary Sahar , Fatehi Farzad 
Published: January 2025

BackgroundQuantitative Susceptibility Mapping (QSM) provides a non‐invasive post‐processing method to investigate alterations in magnetic susceptibility (χ), reflecting iron content within brain regions implicated in neurodegenerative diseases (NDDs).PurposeTo investigate alterations in thalamic χ in patients with NDDs using QSM.Study TypeSystematic review and meta‐analysis.PopulationA total of 696 patients with NDDs and 760 healthy controls (HCs) were included in 27 studies.Field Strength/SequenceThree‐dimensional multi‐echo gradient echo sequence for QSM at mostly 3 Tesla.AssessmentStudies reporting QSM values in the thalamus of patients with NDDs were included. Following PRISMA 2020, we searched the four major databases including PubMed, Scopus, Web of Science, and Embase for peer‐reviewed studies published until October 2024.Statistical TestsMeta‐analysis was conducted using a random‐effects model to calculate the standardized mean difference (SMD) between patients and HCs.ResultsThe pooled SMD indicated a significant increase in thalamic χ in NDDs compared to HCs (SMD = 0.42, 95% CI: 0.05–0.79; k = 27). Notably, amyotrophic lateral sclerosis patients showed a significant increase in thalamic χ (1.09, 95% CI: 0.65–1.53, k = 2) compared to HCs. Subgroup analyses revealed significant χ alterations in younger patients (mean age ≤ 62 years; 0.56, 95% CI: 0.10–1.02, k = 11) and studies using greater coil channels (coil channels > 16; 0.64, 95% CI: 0.28–1.00, k = 9). Publication bias was not detected and quality assessment indicated that studies with a lower risk of bias presented more reliable findings (0.75, 95% CI: 0.32–1.18, k = 9). Disease type was the primary driver of heterogeneity, while other factors, such as coil type and geographic location, also contributed to variability.Data ConclusionOur findings support the potential of QSM for investigating thalamic involvement in NDDs. Future research should focus on disease‐specific patterns, thalamic‐specific nucleus analysis, and temporal evolution.Plain Language SummaryOur research investigated changes in iron levels within the thalamus, a brain region crucial for motor and cognitive functions, in patients with various neurodegenerative diseases (NDDs). The study utilized a specific magnetic resonance imaging technique called Quantitative Susceptibility Mapping (QSM) to measure iron content. It identified a significant increase in thalamic iron levels in NDD patients compared to healthy individuals. This increase was particularly prominent in patients with Amyotrophic Lateral Sclerosis, younger individuals, and studies employing advanced imaging equipment.Level of Evidence2Technical EfficacyStage 2
Food access and the severity of newly diagnosed pediatric inflammatory bowel disease
Authors: Zeky Nicole , LeBlanc Colleen , Yang Shengping , McDonough Elizabeth , Dhaliwal Jasbir , Moulton Dedrick 
Published: January 2025

AbstractObjectivesInflammatory bowel disease (IBD) results from genetic susceptibility, gut microbiome, and environmental factors. Diet, one modifiable environmental factor, has been linked to the increased prevalence of IBD. This study aimed to evaluate a potential association between food deserts and disease severity at diagnosis.MethodsThis retrospective study included newly diagnosed IBD patients (ages of 2 and 21 years of age; diagnosed between January 1, 2019, and December 31, 2021). The United States Department of Agriculture (USDA's) Food Access Research Atlas was used to determine if patients resided in a food desert. The Modified Retail Food Environment Index (mRFEI) determined the ratio of healthy to unhealthy food options. The primary endpoint was disease severity at diagnosis based on endoscopy scores. Statistical analyses were applied as appropriate.ResultsNinety‐eight patients were enrolled (75 [77%] Crohn’ disease; 23 [23%] ulcerative colitis), 59 (60%) identified as Non‐Hispanic White. Fifteen (15%) patients lived in a food desert. Food deserts consisted of more Black patients than White (67%; p = 0.05), more public insurance (12; 80%), and lower median vitamin D (17.6 [interquartile range (IQR): 10.8–24.]). In an adjusted (sex, age, insurance, race) multivariable model mRFEI was associated with reduced odds of a living in a food desert (0.91 [95% confidence interval (CI): 0.83–0.98]). There was no difference between the severity of disease and living in a food desert or food swamp.ConclusionsFifteen IBD patients lived in a food desert. Food deserts have less access to healthy food retailers and higher rates of unhealthy food retailers. Further work is needed to better understand spatial disparities related to food accessibility and IBD.
Low‐Frequency Cyclic Stretch Upregulates the Expression of Nuclear Factor Erythroid 2‐Related Factor 2 in Human Nucleus Pulposus Cells to Inhibit the Resistin‐Induced Interleukin‐20 Expression
Authors: Yen Chia‐Kung , Pan Hung‐Yu , Chang Hsin‐I , Lu Ying‐Chen , Jeng Yeau‐Ren , Chen Cheng‐Nan , Huang Kuo‐Yuan 
Published: January 2025

ABSTRACTBackgroundResistin may connect obesity and intervertebral disc (IVD) degeneration (IDD) and is linked with chronic inflammation. Furthermore, human IDD is characterized by high expression of interleukin‐20 (IL‐20). The response of human nucleus pulposus (NP) cells to tensile forces depends on both the duration and magnitude of the force applied. Nonetheless, the interactions among resistin, IL‐20, and tensile forces in regulating the function of IVD NP cells remain yet to be fully understood. Nuclear factor erythroid 2‐related factor 2 (NRF2) has been identified as a pleiotropic protein that enhances cellular resistance to stress stimuli and inflammatory challenges. The role of NRF2 in NP cells is not well defined, and whether tensile force influences NRF2 levels in NP cells is not known.AimsThis study investigated the role of NRF2 in human NP cells subjected to low‐frequency cyclic stretch stimulation, and the underlying mechanisms involved.Materials and MethodsHuman NP cells were cultured in chambers, serum‐starved for 12 h, then subjected to 5% cyclic strain at 0.1 Hz in a bioreactor. Control chambers had no stretching. Cells were lysed for analysis post‐loading.ResultsResistin stimulation induced the expression of IL‐20 in human NP cells in a dose‐ and time‐dependent manner. The activation of the p38 mitogen‐activated protein kinase, and Akt signaling pathways, as well as the production of toll‐like receptor 4, are necessary to render resistin to cause the release of IL‐20. In NP cells, transcription factor enzyme‐linked immunosorbent assays revealed that resistin led to an increase in nuclear factor (NF)‐κB‐DNA binding activities. Exposure of NP cells to 5% cyclic stretch at 0.1 Hz inhibited this resistin‐induced NF‐κB activation and IL‐20 expression.DiscussionThese findings elucidate the molecular mechanisms through which resistin induces IL‐20 expression in NP cells and also demonstrate that low‐frequency cyclic stretch can protect against this induction.
A scoping review of psychosocial interventions delivered by non–mental health workers following disaster events
Authors: Varker Tracey , Fredrickson Julia , Agathos James , Howlett Phoebe , Howard Alexandra , O'Donnell Meaghan L. 
Published: January 2025

AbstractIndividuals exposed to disasters are at high risk of developing mental health conditions, yet the availability of mental health practitioners is often limited. The aim of this scoping review was to examine the quality of the evidence for psychosocial interventions that can be delivered by non–mental health workers in the context of disasters. Searches were performed in PsycInfo, EMBASE, Family & Society Studies Worldwide, CINAHL, Global Health, PubMed, and SCOPUS, from inception through to November 2024, to identify studies of relevance. Only studies investigating psychosocial interventions that could be delivered by non–mental health clinicians in a non–hospital or clinic setting were included. In total, 69 primary intervention studies examining 27 universal interventions and 10 indicated interventions were identified. Studies were rated on quality and risk of bias, and GRADE was used to rank the evidence for each intervention. For universal interventions, no study had an evidence rating above “very low” to support confidence in a significant impact on clinical outcomes. For indicated interventions, Problem Management Plus (PM+) and Self‐Help Plus (SH+) had an evidence rating of “high” in the postdisaster context, and Skills for Life Adjustment and Resilience (SOLAR) had a “low” evidence rating; the remaining interventions were given “very low” ratings. Despite the high number of psychosocial interventions that target postdisaster distress, very few have been tested using rigorous methodologies with large samples. Future research should include methodologies that test interventions at scale and recognize the impacts of compounding disasters.
Understanding the Grain Production Growth Pathways Transition and Its Implications for Sustainable Grain Production in China
Authors: Wang Xiaorong , Song Xiaoqing , Wang Ying , Wang Xiong , Gao Houxing 
Published: January 2025

ABSTRACTThe grain production growth pathways transition can achieve the dual strategic objectives of increasing grain production and ensuring ecological security by adjusting the input structure of production factors. However, the current understanding of the transition patterns and driving mechanisms of grain production growth pathways remains inadequate, posing challenges to sustainable grain production. To address this research gap, this study establishes a theoretical analysis framework, proposes methods for identifying and partitioning, and uses panel data to reveal the patterns and driving mechanisms of this transition. The main findings indicate that induced production substitution directly causes the shift in grain production growth pathways from being driven by improvements in grain land productivity to improvements in grain labor productivity. This transition process shows significant differences among grain crop types and regional spatial heterogeneity. The primary contribution of this study is its comprehensive understanding of the driving mechanisms behind grain production growth pathways transition from the perspective of the evolution of production factors. This includes the economic‐social, socio‐institutional, and environmental‐site dimensions of drivers, which influence the induced substitution process of grain production factors and thereby drive the grain production growth pathways transition. We recommend formulating spatial planting plans based on the transition stages and implementing differentiated production targets and subsidy policies for various crops and regions. These findings and recommendations are valuable for ensuring grain security and promoting sustainable production.
The Combined Effects of Topography and Climate Factors Dominate the Spatiotemporal Evolution of the Ecological Environment in the Yangtze River Economic Belt
Authors: Shi Shouhai , Qiu Hua , Ji Shunping , Luo Zhaohui 
Published: January 2025

ABSTRACTThe Yangtze River Economic Belt (YREB) is a key eco‐environmental protection barrier and economic engine in China. Understanding the characteristics of its eco‐environmental spatiotemporal evolution and mechanisms driving these changes is important for revealing shifts in ecosystem structure and function. However, the governing elements of the ecological environment and how these components interact remain unclear due to the strong coupling impact of urbanization and climate change. This paper constructed a long‐term series remote sensing based ecological index (RSEI) to evaluate the characteristics of eco‐environmental variation of YREB during 2000–2024. Subsequently, the fundamental reasons of the eco‐environmental evolution were quantitatively analyzed using optimal parameters‐based geographical detector (OPGD). Results indicated: (1) The average RSEI of YREB was 0.68, indicating a rather high overall eco‐environmental quality (EEQ), with 73% of the region having RSEI values more than 0.60. The regions with excellent conditions were concentrated in Zhejiang, Jiangxi, Guizhou, and Hunan, while the poorer areas were in northwestern Yunnan, southwestern Sichuan, and western Hubei. (2) The EEQ of YREB mainly showed a degradation trend, with degraded areas exceeding 80% over the past 25 years. In the future, most areas might face higher risks of ecological degradation. (3) Digital elevation model (DEM), temperature (Tem), and population (POP) were key driving factors of the ecological environment. There were significant interactions between certain factors, with the interaction between DEM and potential evapotranspiration (Pet) explaining 62.2% of the ecological quality distribution. The findings assisted the creation of an ecological civilization by offering policy proposals for managing and conserving ecological environments.
Excitation of Longitudinal Bound States in a Weyl Metamaterial cavity
Authors: Guan Fuxin , Yang Yang , Chan Hsun‐Chi , Lin Zemeng , Hu Yue , Bi Ke , Xiang Yuanjiang , Zhang Shuang 
Published: January 2025

AbstractBulk plasmons, which are longitudinal electromagnetic modes (LMs) with electric fields oriented along the propagation direction, play a key role in the formation of Weyl points and hyperbolic dispersions in metamaterials. However, LMs in their pure form are challenging to study due to the difficulty in coupling them with free space radiation, and their sensitivity to material loss. Here a Fabry–Pérot resonance of LMs inside a Weyl metamaterial cavity is realized by introducing a tunable defect into the cavity to control the coupling between the LMs and the transverse‐polarized states. A quasi‐bound state in the continuum‐like effect with FP resonance of LMs is successfully observed in microwave experiments with the help of the synthesized complex frequency approach. Experimental demonstration of longitudinal electromagnetic resonances can open up a wealth of potential applications in areas such as lasing, optical sensing, pass band filtering, and waveguiding.
Robust H∞$$ {H}_{\infty } $$ Filter Design for Uncertain 2‐D Singular Continuous Systems With State‐Varying Delay in Roesser Model
Authors: Hafid Chelliq El , Badie Khalid , Alfidi Mohammed , Chalh Zakaria 
Published: January 2025

ABSTRACTRobust performance analysis and robust filtering design are considered here for uncertain two‐dimensional (2‐D) singular continuous state‐varying delay systems with norm‐bounded parameter uncertainties. Based on the augmented Lyapunov‐Krasovskii functional (LKF) with triple integral terms and the use of the Wirtinger inequality combined with an improved reciprocally convex approach, a new sufficient admissibility condition is obtained, which guarantees that the 2‐D singular filtering error is regular, causal, and stable and satisfies the performance for all admissible uncertainties. This condition will be used later to design a robust filter. Finally, two numerical examples are provided to demonstrate the effectiveness and merits of the proposed approach.
A Compact Difference Scheme for Mixed‐Type Time‐Fractional Black‐Scholes Equation in European Option Pricing
Authors: Wang Jiawei , Jiang Xiaoxuan , Yang Xuehua , Zhang Haixiang 
Published: January 2025

ABSTRACTThe time‐fractional Black‐Scholes equation (TFBSE) is an important model in financial markets, widely used for estimating the prices of European options under conditions of memory effects and anomalous diffusion. Traditional models often fail to capture such dynamics, making TFBSE particularly important for accurately reflecting market behaviors over time. In this paper, we propose a novel compact difference scheme to solve the mixed‐type TFBSE. Discretization in the time direction is accomplished using the L1 scheme. To achieve fourth‐order discretization in the spatial direction, a compact difference method based on the reduced‐order method is employed. The stability and convergence of the proposed scheme under the norm are established using the discrete energy method. Finally, a series of numerical examples are provided to verify the theoretical results, demonstrating both the accuracy and efficiency of the method in practical applications.
Differences in Ferritin, Vitamin D, and Vitamin B12 Between Fibromyalgia Patients and Healthy Individuals: A Systematic Review and Meta‐Analysis
Authors: Ismail Omar , Albdour Karam , Albdour Zain , Jaber Kamel 
Published: January 2025

ABSTRACTBackgroundFibromyalgia—one of the chronic pain syndromes—characterised by pain, fatigue, and tenderness. The role of certain micronutrients like vitamin D, vitamin B12, and ferritin has been previously investigated in many primary studies aiming to assess both their therapeutic and diagnostic potential in the management of fibromyalgia.AimTo compare the levels of vitamin D, ferritin, and vitamin B12 between fibromyalgia patients and healthy controls.MethodsOur study protocol was registered prospectively on PROSPERO (CRD42024585826) and was conducted in accordance with the PRISMA guidelines. Literature search, article screening, and data collection were conducted by two independent investigators. The mean difference along with its 95% confidence interval for each of the three outcomes was pooled under a random effects model.ResultsTwenty‐five studies were included in the final analysis; 22 reported vitamin D levels, 5 reported ferritin levels, and 3 reported vitamin B12 levels. Generally, fibromyalgia patients had lower vitamin D and ferritin levels compared with healthy controls (MD = −3.86, 95% CI [−6.99; −0.73] and −14.78, [−18.95; −10.62], respectively). Vitamin B12 showed no difference between the two groups (−20.70 [−51.57; 10.16]).ConclusionVitamin D and ferritin levels were found to be lower in patients with fibromyalgia. Whether vitamin D supplementation improves fibromyalgia symptoms remains under debate. However, we recommend both routine empirical supplementation of vitamin D along with ferritin level testing in all patients. Further studies are needed to confirm whether lower ferritin and vitamin B12 levels contribute to fibromyalgia.
Are Women Physicians Underrecognized for National Awards in Neuromuscular and Electrodiagnostic Medicine? An Observational Study
Authors: Bateman Emma A. (Ali) , Cassidy Caitlin , Reardon Rachel , Fleet Jamie L. 
Published: January 2025

ABSTRACTIntroduction/AimsInstitutions and organizations, including the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM), have committed to embracing principles of equity, diversity, and inclusion. Notwithstanding this commitment, studies repeatedly demonstrate that women physicians are less likely to receive awards in medicine and research compared to their male counterparts. Whether women physicians are less likely to be recognized with AANEM awards is unknown. The objective of this study was to evaluate whether there is a gender disparity in the AANEM's annual awards.MethodsIn this retrospective observational study, lists of award winners were obtained from the AANEM website. Award winners' gender was assigned by three independent reviewers based on searches of public professional websites according to established methodology. Data were analyzed using descriptive statistics.ResultsOf 154 physician awards from 1957 to 2023, 24 (15.6%) were awarded to women and 135 (84.4%) to men. The first woman to win an AANEM award was in 2003. As the number of award categories increased over time (from 1 pre‐1994 to 9 as of 2019), so too did the proportion of women winners. From 1994 to 2003, 3.4% of AANEM awardees were women compared to 17.1% from 2004 to 2013 and 18% from 2014 to 2023. Even over time, the greatest disparities existed for the Distinguished Physician/Researcher and Lifetime Achievement awards.DiscussionFor the AANEM, there is a notable gender gap in physician awards, but this gap has narrowed over time. Further efforts to address systemic barriers contributing to this disparity are warranted.
Improving Completion Rates of Transcranial Doppler Ultrasounds in Children With Sickle Cell Disease Using Quality Improvement Efforts: In‐Clinic versus Population‐Based Assessments
Authors: Vissa Madhav , Parikh Priya , McCulloch Chuck , Bhasin Neha , Cabana Michael D. , Chung Jong , Marsh Anne , Wong Trisha , Treadwell Marsha , Bardach Naomi S. 
Published: January 2025

ABSTRACTTranscranial Doppler (TCD) screening is essential for stroke prevention in children with sickle cell disease (SCD), but screening rates are low nationally. We use Medicaid administrative claims to assess TCD completion rates before and after a 12‐month QI initiative to improve rates in the Pacific Sickle Cell Regional Collaborative (PSCRC). We found an increase in TCD screening rates for QI participant sites (52.4% to 58.6%), but not for the nonparticipant SCD population (48.3% to 38.3%). The increase in QI participant sites was not sustained 1 year after the initiative. Local clinic‐level QI initiatives may need to be supplemented with health system partnerships to sustain higher TCD screening rates, thereby improving SCD outcomes.