bluuebunny/crossref_metadata_2025_split huggingface dataset:
Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.
Authors: RIJCKMANS Ellen , De Strooper Lars P. , Keymolen Kathelijn , Rosenblum Jessica , Loeys Bart , Meuwissen Marije , Jansen Anna C. , Stouffs Katrien 
Published: October 2024

Abstract

BACKGROUND Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration. Gain-of-function (GOF) variants in FLNA are associated with oto-palato-digital spectrum disorders (OPDSD). Loss-of-function (LOF) variants give rise to a wide variety of symptoms with periventricular nodular heterotopia (PVNH) and epilepsy as the most common features. FLNA deficiency manifests as a multisystemic disorder with abnormalities of connective tissue and involvement of the cardiovascular, pulmonary, gastrointestinal and hematological system. Affected individuals need a multidisciplinary follow-up, but guidelines are lacking. Here, we present findings from a monocentric cross-sectional cohort study as a basis for improving clinical practices and surveillance for individuals with pathogenic FLNA variants.RESULTS The FLNA-cohort consisted of 24 index patients with a pathogenic (class 5) LOF variant in FLNA. In the cohort, 23 patients exhibited clinical features of PVNH, while one individual manifested congenital pulmonary airway malformation (CPAM). The incidence of clinical features such as epilepsy (84%) and cardiovascular involvement (56%) are consistent with previously published cohorts. Systematic multidisciplinary follow-up, particularly regular cardiological screening, was lacking in a significant number of individuals. Additionally, lesser-known symptoms such as constipation and thrombocytopenia were underreported, highlighting the need for comprehensive phenotypic assessment in FLNA deficiency.CONCLUSION The incidence of clinical features in this tertiary cohort aligns with existing literature. The absence of uniform and multidisciplinary guidelines hampers effective surveillance and management. Implementation of regular cardiological screening and increased awareness of less overt symptoms could enhance medical outcomes for individuals with pathogenic FLNA variants.
Immunohistochemical Analysis of Mastocyte Inflammation: A Comparative Study in COPD Associated with Tobacco Smoking and Wood Smoke Exposure
Authors: Robles-Hernández Robinson , Rivera Rosa M. , Páramo-Pérez Marcos , Quiroz-Camacho Dulce Mariana , Centeno-Saenz Gustavo I. , Bedolla-Tinoco Alan , Maya-García María C. , Pérez-Padilla Rogelio 
Published: October 2024

Abstract

Chronic Obstructive Pulmonary Disease (COPD) exhibits some phenotypic differences between patients with biomass smoke inhalation (COPD-B) and tobacco smoking (COPD-T), as COPD-B is characterized by less emphysema but more airway disease and vascular pulmonary remodeling; these characteristics were related for mast cells in lung tissues for COPD-T. Our objective was to characterize the differences between the number of mast cells in COPD-B and COPD-T patients.
METHODS: A cross-sectional study was conducted on lung tissue resections for suspected cancer obtained between 2014 and 2021 from patients with documented COPD due to wood smoke or tobacco exposure. Histological samples were analyzed for mast cell count, CD34 + expression, and structural changes in the lung tissue and pulmonary circulation.
RESULTS: 20 histological samples were analyzed, with significant differences found in mast cell count [median 8 (p25-75, 5–11) vs 2 (p75-25, 0–6), p = 0.016) and severe peribronchiolar fibrosis (60% vs 10%, p = 0.04) between COPD-B and COPD-T patients. A positive correlation (spearman rho = 0.879, p > 0.001) was observed between mast cell count and a gradual increase in pulmonary artery diameter.
CONCLUSION: Compared with COPD-T, patients with COPD-B exhibit more counts of mast cells in lung tissue and peribronchiolar fibrosis than tobacco smoke-exposed patients, suggesting a pathogenic role of mast cells in COPD-B more than in COPD-T.
Role of RGS12 in Placental Mitochondrial Dysfunction and Adverse Pregnancy Outcomes
Authors: Cao Xianling , Zhou Xuanyou , Xu Naixin , Shi Weihui , Huang Hefeng , Sun Zhengao , Chen Songchang , Xu Chen-Ming 
Published: October 2024

Abstract

Mitochondrial function and its regulation within the placenta are critical for maintaining a healthy pregnancy. This study investigated the role of G-protein signaling 12 (RGS12) in placental mitochondrial function and pregnancy outcomes. RGS12 was found to be localized within the mitochondria of placental trophoblast cells. RGS12 knockdown in human placental cells resulted in decreased mitochondrial abundance, impaired oxidative phosphorylation, and reduced antioxidant capacity. Mechanistically, RGS12 enhanced the function of ATP5B, a key mitochondrial enzyme, by promoting its tyrosine phosphorylation. In a mouse model, placental RGS12 deficiency led to preterm birth (PTB), decreased fetal weight, and trophoblast cell death. These adverse effects were associated with diminished ATP synthase activity and activation of the p38MAPK signaling pathway, while restoring RGS12 expression improved the phenotype of mitochondrial dysfunction in placental trophoblast cells. Furthermore, reduced RGS12 expression and impaired mitochondrial function were observed in placentas from cases experiencing PTB. Collectively, these findings provide hitherto undocumented evidence of a specific molecular mechanism by which placental mitochondrial dysfunction contributes to adverse pregnancy outcomes. Our study suggests that RGS12 may represent a novel therapeutic target for improving pregnancy outcomes through its role in regulating placental mitochondrial function.
Unmasking the Ethical Dimensions of Data-sharing in Health Research: Perspectives from Researchers at a Public University in Uganda
Authors: Kutyabami Paul , Muyinda Herbert , Mukuru Moses , Mwaka Erisa , Pakoyo Kamba , Kalyango Joan , Sewankambo Nelson K. 
Published: October 2024

Abstract

Background
In resource-limited settings like Uganda, ethical sharing of health research data is crucial for advancing scientific knowledge. Despite the growing trend of data sharing in the digital age, its adoption in low-resource contexts is often hampered by complex ethical considerations. This report investigates these ethical concerns using data from researchers at a public university, with the goal of informing the development of practical solutions to promote ethical data-sharing practices in Uganda
Methods
A qualitative phenomenographic study was conducted with 26 participants at Makerere University College of Health Sciences, including professors, lecturers, research fellows, and PhD students. In-depth interviews were conducted via Zoom or in person, using an interview guide. Data were analyzed thematically using ATLAS.ti (V9), following both deductive and inductive approaches
Results
The study revealed a complex landscape of data-sharing practices among researchers. Participants had varying understandings of data sharing, with some expressing limited awareness. Incentives were widely recognized as crucial for encouraging data sharing. While acknowledging data sources in publications was appreciated, some researchers advocated for co-authorship for significant contributions. Researchers’ autonomy and control over data-sharing practices were influenced by factors such as research concept origination, funding sources, researchers’ financial status, and analytical skills. Institutional policies, cultural norms, and customs that promote a ‘siloed’ research environment also significantly influenced of data-sharing behavior
Conclusion
This study revealed a complex landscape of data-sharing practices among researchers. The varying interpretations of data sharing highlight the need for enhanced education and awareness regarding its importance. The identified incentives, such as financial rewards and co-authorship, which encourage data sharing, suggest a need to establish a fair data-sharing reward system. Additionally, policies that facilitate researchers' autonomy and data control, while fostering trust, are crucial to address the siloed research culture.
Asprosin Promotes Human Renal Tubular Epithelial Cells Apoptosis by Inhibiting Autophagy
Authors: Zheng Shuran , Liu Wenli , Du Xiaogang 
Published: October 2024

Abstract

Asprosin, a recently discovered adipokine, is a glucotropic hormone involved in the pathogenesis of diabetes and closely associated with diabetic kidney disease (DKD). Renal tubular epithelial cell injury is one of the important pathological characteristic of DKD. However, the precise molecular mechanism remains unclear. In this study, we validated the role of Asprosin in proximal tubular epithelial cells injury in DKD. The expression level of Asprosin was found to be higher in kidney tissues and plasma of DKD patients than in the healthy group. Additionally, the kidney tissues of DKD mouse and HK-2 cells treated with high glucose showed elevated Asprosin expression. Moreover, Asprosin intervention in HK-2 cells led to insufficient autophagy and increased apoptosis. These findings suggest that Asprosin exacerbates autophagy disturbance and induces apoptosis in HK-2 cells under high glucose conditions, and our further studies verified that Asprosin promotes HK-2 cell apoptosis by inhibiting autophagy. Thus, our findings demonstrate for the first time that elevated glucose levels can upregulate Asprosin in both kidney tissue and plasma. Moreover, Asprosin can enhance apoptosis in HK-2 cells by inhibiting autophagy, aggravate autophagy dysregulation and apoptosis caused by high glucose, and promote injury in renal tubular epithelial cells.
Associations between Abdominal Fat, Psoas Muscle Fat, and Lumbar Spine Bone Density: Insights from Quantitative CT Imaging
Authors: Xu Hua , Wang Zhi , Meng Xiang-hong , Zhu Feng-ling , Zhong Yu-qiao 
Published: October 2024

Abstract

Purpose
To investigate the correlation between abdominal adipose tissue (AAT), psoas muscle fat content, and lumbar vertebral bone mineral density (BMD) in different age and sex groups using quantitative CT(QCT) imaging.
Methods
A total of 861 subjects were included in this study, comprising 404 males and 457 females, divided into 6 age groups. QCT was used to measure BMD, visceral adipose tissue (VAT), subcutaneous adipose tissue (SAT), and psoas muscle fat content (Fp). Independent sample t-tests were used to compare intergroup differences in the above data between males and females in the same age group. One-way analysis of variance (ANOVA) was used to compare intergroup differences in the data between males and females in each age group. Pearson correlation analysis was used to assess the correlations of BMD with VAT, SAT, and Fp, as well as the correlation between AAT and Fp.
Results
There was no difference in Fp between males and females in each age group. In the 60–69 and 70–79 age groups, female BMD was significantly lower than that of males (P < 0.001). Except for the 20–29 and 40–49 age groups, the SAT in females was higher than that of males (P < 0.001), while except for the 20–29 age group, female VAT was lower than that of males (P < 0.001) in each age group. There were differences in BMD (F = 72.07, P < 0.001), VAT (F = 22.12, P < 0.001), and Fp (F = 23.61, P < 0.001) among different age groups in males. Among different age groups in females, there were differences in BMD (F = 188.81, P < 0.001), VAT (F = 39.82, P < 0.001), SAT (F = 6.26, P < 0.001), and Fp (F = 26.22, P < 0.001). BMD in males was negatively correlated with both VAT and Fp (R=-0.336, -0.422, P < 0.001), and Fp was positively correlated with VAT and SAT (R = 0.405, 0.125, P < 0.001). BMD in females was negatively correlated with SAT, VAT, and Fp (R=-0.112, -0.509, -0.469, P < 0.001), and Fp was positively correlated with VAT and SAT (R = 0.521, 0.325, P < 0.001).
Conclusion
Visceral adipose tissue and psoas muscle fat content increase with age, while BMD decreases with age. Increased visceral adipose tissue, psoas muscle fat content, and subcutaneous adipose tissue in females may be risk factors for osteoporosis.
Sexual dimorphism in 137Cs accumulation after chronic low dose exposure in mice
Authors: Quelquejay Hélène , Brizais Chloé , Bachelot Florence , Elie Christelle , Monceau Virginie , Cron Eva , Bo Raphaël , Broggio David , Trompier François , Ristic Yohann , Bertho Jean-Marc , Grison Stéphane , G.Ebrahimian Teni 
Published: October 2024

Abstract

The presence of Cesium-137 (137Cs) in the environment after nuclear accidents at Chernobyl and Fukushima Daiichi raises many health issues for the surrounding populations chronically exposed through the food chain. Unlike previous in vivo studies that focused solely on male exposures, this experimental research aims to assess the biodistribution and dosimetry of low-dose 137Cs internal exposure in both male and female C57BL/6 mice. This study uses a previously established model for chronic ingestion of 137Cs, simulating various exposure scenarios. Male and female C57BL/6 mice were exposed to concentrations resembling those ingested daily by residents in contaminated areas (20 kBq/L), as well as 5- and 10-times higher concentrations, for either 6 or 24 weeks. Throughout this period, the animals were closely monitored to determine and quantify the 137Cs content and to calculate absorbed doses. After 6 or 24 weeks exposure to chronic 137Cs in drinking water at 500 kBq/L, 137Cs concentration varied according to the organs and the sex of the animals. Males showed a higher body burden of 137Cs compared to females, with significant differences observed as soon as day 11. As well, the organs showing the highest 137Cs concentrations were skeletal muscle in males and in females, with significant differences between males and females. Regarding excretion, it appears that the elimination of 137Cs through feces was similar in males and females. By contrast, female mice showed a higher rate of 137Cs urine excretion than males, thus explaining the lower body burden in females. The resulting absorbed doses, calculated using dose conversion factors provided by ICRP publication 108, showed that the absorbed dose is 1.85 times less in female mice compared to male mice. 36.1 mGy in females and 66.9 mGy in males after 6 weeks exposure. 182.0 mGy in females and 310.0 mGy in males after 24 weeks exposure. This study demonstrates for the first time, sexual dimorphism in 137Cs biokinetics between males and females. These findings could refine biokinetic models of cesium and absorbed dose estimations in case of internal contamination, especially in post-accidental situations.
Metabolomics reveals the metabolic characteristics of bullous pemphigoid
Authors: Tao Xiaoran , Jin Zhangsi , Xu Chen , Wei Panling , Yang Xiaoli , Zhu Caihong , Gao Jinping , Wang Zaixing 
Published: October 2024

Abstract

Background: Bullous pemphigoid (BP) is a life-threatening chronic relapsing autoimmune blistering disease. Recently, metabolomics research has been widely applied to autoimmune skin diseases.This research aims to investigate the differential metabolites in the plasma of BP patients compared to healthy individuals and to identify the metabolic pathways enriched in BP, thereby providing new insights into the pathogenesis of BP. Methods: We collected plasma samples from 32 BP patients and 35 healthy controls, using untargeted metabolomics to Identify differential metabolites, and their metabolic and signal transduction pathways were determined through KEGG pathway enrichment analysis. Results: Analysis identified 27 different metabolites between BP and normal groups. Significant changes in metabolite levels included steroids, D-Sorbitol, fatty acids, benzenes and phenols, and Prenol lipids. Steroids were uniformly upregulated, while fatty acids were uniformly downregulated. KEGG pathway analysis identified 15 significantly different pathways (p < 0.05) between the BP and normal group, including amino acid metabolism, glycerophospholipid metabolism, and steroid hormone biosynthesis pathways. Conclusion: This study utilized metabolomics analysis to reveal the differences in plasma metabolites and characteristic metabolic pathways between BP patients and healthy controls. These findings provide new insights into the pathogenesis of BP and may inform the diagnosis, treatment, and long-term management of the disease.
Development of a multidimensional 1-year mortality prediction model for patients discharged from the geriatric department: A longitudinal cohort study based on comprehensive geriatric assessment and clinical data
Authors: Li Jiaojiao , Kang Lin , Liu Xiaohong , Sun Xiaohong , Zhu Minglei , Wang Qiumei , Qu Xuan , zhang Ning , Xia Eryu , Lu Fei , Liu Shuo , Jin Shuang , Wang Xueping , Yao Guojun 
Published: October 2024

Abstract

Background
A poor prognosis within 1 year of discharge is important when making decisions affecting postoperative geriatric inpatients. Comprehensive geriatric assessment (CGA) plays an important role in guiding holistic assessment-based interventions. However, current prognostic models derived from CGA and clinical data are limited and have unsatisfactory performance. We aimed to develop an accurate 1-year mortality prediction model for patients discharged from the geriatric ward using CGA and clinical data.
Methods
This longitudinal cohort study analysed data from 816 consecutively assessed geriatric patients between January 1, 2018 and December 31, 2019. Models were constructed using Cox proportional hazards regression and their validity was assessed by analysing discrimination, correction, and decision curves. The robustness of the model was determined using sensitivity analysis. A nomogram was developed to predict the 1-year probability of mortality, and the model was validated using C-statistics, Brier scores, and calibration curves.
Results
During 644 patient-years of follow-up, 57 (11·7%) patients died. Clinical variables included in the final prediction model were activities of daily living, serum albumin level, Charlson Comorbidity Index, FRAIL scale, and Mini-Nutrition Assessment-Short Form scores. A C-statistic value of 0·911, a Brier score of 0·058, and a calibration curve validated the model.
Conclusion
Our risk stratification model can accurately predict prospective mortality risk among patients discharged from the geriatric ward. The functionality of this tool facilitates objective palliative care.
Role of technology usage among school children and its relationship with life skills assessment
Authors: G Meenakshi , Koppad Vanishree 
Published: October 2024

Abstract

As the proliferation of technology continues to reshape the modern educational setting, understanding the role of technology usage among school children and its impact on their life skills development becomes increasingly critical. This study seeks to investigate the multifaceted relationship between technology use, specifically digital devices and the internet, and the assessment of life skills in school-aged children. The objectives are to explore the extent and patterns of technology usage among school children, as well as to assess how this usage correlates with the development of essential life skills. Findings from this study will shed light on the positive and negative impacts of technology usage on children's life skills development. It will also address potential differences in technology access, exposure, and usage among various demographic groups and how these disparities may influence life skills acquisition. The implications of this research are significant, as it will inform educators, parents, and policymakers about the optimal integration of technology into the classroom and home environments to foster holistic skill development in school children.
Newly Diagnosed Diabetes Mellitus in Acute Coronary Syndrome (ACS) and their cardiac profile in a tertiary care hospital in Southern India: A Prospective study
Authors: Premchandra Kishan 
Published: October 2024

Abstract

Background:
Diabetes Mellitus (DM) has been one of the major risk factors for Coronary Artery Disease (CAD). Diabetes Mellitus and ACS are seen to have increased prevalence in our country mainly because of altered lifestyle and lack of awareness among general public, resulting in India being often called the "Diabetic capital of the World"
Aim:
To study the incidence of New onset DM in patients presenting with ACS and also to compare the baseline characteristics and coronary profile among New onset DM, Known DM and Nondiabetic in group of patients presenting as ACS
Methods and Results:
This prospective study was conducted at a single center over 1-year 5 Months duration (January 2023-May 2024). All the consecutive ACS patients admitted to our cardiology department of the hospital, were enrolled in the study. Data collected included baseline demographics like age, sex, smoking status, hypercholesterolemia, hypertension and coronary interventions in past. Serum HbA1c test was done for all patients. All patients were treated as per the Standard Cardiology Guidelines. All the parameters were compared between three groups;; New Onset DM, Known DM and Non Diabetics. A total 400 ACS patients were enrolled, out of which 119(29.75%) were detected as New Onset DM. Male to female ratio was 3:1. New Onset DM category had higher incidence of STEMI as well as triple vessel disease (TVD) in our study, which was statistically significant (p=0.002). Polycythemia was associated with higher incidence of STEMI in our study. (p=0.002)
Conclusion:
DM, newly or previously diagnosed, is associated with poor long term outcomes. However New Onset DM will have more adverse coronary profile (TVD) and have higher chances of having STEMI, further emphasizing the need for routine screening of DM in adults when they present as ACS
Delivering Health Promotion Advice in Urgent Care and Emergency Departments: Insights from the promotED Study - a sequential explanatory mixed-methods study
Authors: Schofield Behnaz , Voss Sarah , Terry Rohini , Gul Faiza , Hoskins Rebecca , Rolfe Ursula , McClean Stuart , Gibson Andrew , Benger Jonathan 
Published: October 2024

Abstract

Background:
Emergency department nurses and paramedics have contact with millions of people and could use these contacts as opportunities to help people improve their health. These two professional groups could identify people with modifiable risk factors and provide information, brief interventions, and signposting to locally provided services. This study aimed to investigate if and how health promotion is delivered by emergency department nurses and paramedics, and its acceptability to both the staff and patients in these settings.
Methods:
A mixed methods study consisting of an online survey with paramedics and emergency department nurses and semi-structured telephone interviews with staff and patients. The setting was the emergency departments in three NHS Hospital Trusts and four Ambulance Service Trusts in England.
Results:
Three hundred and thirty-one online survey responses, 21 virtual interviews with staff and 14 virtual interviews with patients were analysed. Three main themes emerged from the data: (1) role and relevance of health promotion provision; (2) needs and support for health promotion provision; (3) trust and receptiveness for health promotion provision.
Conclusions:
The findings of this study indicate that staff often refrain from engaging in health promotion activities due to uncertainty about whether it falls within their job responsibilities and a lack of confidence in their ability to perform these activities. Further research is needed to identify effective strategies to encourage, empower, and support staff in integrating health promotion activities into their daily routines in ways that are acceptable to both patients and staff.