bluuebunny/crossref_metadata_2025_split huggingface dataset:
Monoclonal immunoglobulin deposition disease a spectrum? The treatment of an unusual biopsy presentation
Authors: Dumbrava Mihai , Leung Nelson , Sethi Sanjeev , Chowdhury Raad B 
Published: June 2024

Introduction: Monoclonal gammopathy of renal significance (MGRS) is characterized by clonal cell deposition of monoclonal immunoglobulin causing renal manifestations without overt malignancy. MIDD is a subtype of MGRS characterized by deposition of monoclonal light (LCDD), heavy chains (HCDD), or both (LHCDD) along the renal glomerular and tubular basement membranes. Virtually all organs can be involved, and if left untreated, MIDD can progress to MM and end stage renal disease. Although these patients classically did not receive treatment, current MIDD management is primarily focused on controlling the underlying clonal plasma cell disorder. Case description: We present a 56-year-old male with atypical MIDD treated successfully with plasma cell directed therapy consisting of daratumumab, cyclophosphamide, bortezomib, and dexamethasone (DARA-CYBOR-D). Despite a primary diagnosis of diabetic kidney disease, renal biopsy suggested myeloma-related MIDD based on linear immunofluorescent staining for IgG and kappa light chains along the tubular and glomerular basement membranes. Notably there were no electron dense deposits in the mesangium or tubular basement membranes typical to MIDD electron microscopy. Despite the presentation of MIDD on IF only, DARA-CYBOR-D treatment led to hematologic and renal improvement and remission from MIDD, with a GFR increase from 22 to 59 mL/min/BSA and a drop in urine protein from up to 9 to 0.6 g/dL. Conclusions: In conclusion, our case illustrates the efficacy of the DARA-CYBOR-D regimen in a patient with IF-only MIDD. We highlight the importance of obtaining a kidney biopsy when there are other potential causes for real decline and enhance our understanding of pathological and clinical spectrum of MIDD.
Clogauite, PbBi4Te4S3, a new member of the aleksite series
Authors: Cook Nigel J. , Ciobanu Cristiana L. , Yao Jie , Stanley Christopher J. , Liu Wenyuan , Slattery Ashley , Wade Benjamin 
Published: June 2024

AbstractClogauite, ideally PbBi4Te4S3 is the new n = 1 member of the aleksite series, PbnBi4Te4Sn+2, where n is the homologue number. Clogauite is named from the type locality, the Clogau gold mine, Dolgellau Gold belt, Gwynedd, North Wales, United Kingdom. The mineral and name have been approved by the Commission on New Minerals, Nomenclature and Classification of the International Mineralogical Association (IMA2023–062). The aleksite series is an accretional homologous series in which each member is derived from the same 5-atom tetradymite archetype. Clogauite crystallises in the trigonal crystal system (space group: P$\bar{3}$m1, #164). Three distinct polytypes of clogauite are recognised, corresponding to identical chemistry but different layer sequences, expressed as (57), (5559) and (557.559), respectively, in reference to the number of atoms in individual layer sequences. These are clogauite-12H, a = 4.277(4) Å, c = 23.46(14) Å, V = 371.598 Å3 and Z = 1; clogauite-24H, a = 4.278(4) Å, c = 46.88(31) Å, V = 743.053 Å3 and Z = 2; and clogauite-36H, a = 4.278(4) Å, c = 70.36(32) Å, V = 1115.283 Å3 and Z = 3. Clogauite is opaque, with a pale grey colour in reflected light. Reflectance is higher than tetradymite or galena. Bireflectance and anisotropy are strong. Structural data were determined from measurement of atomic-scale HAADF STEM imaging showing the internal arrangement of component atoms and characteristic selected area electron diffraction patterns for each polytype. The structures were then further constrained from ab initio total energy calculations and structure relaxation using density functional theory (DFT) using the measured parameters as input data. The relaxed crystal structure for each polytype was modelled to generate crystallographic information files (cif). STEM and electron diffraction simulations based on the crystallographic information data obtained from the DFT calculations show an excellent match to the empirical measurements.
Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice
Authors: Song Mengqi , Cheng Haoyue , Zou Hao , Ma Kai , Lu Lianfang , Wei Qian , Xu Zejiang , Tang Zirui , Zhang Yuanzheng , Wang Yinan , Sun Chuandong 
Published: June 2024

AbstractHepatocellular carcinoma (HCC) genomic research has discovered actionable genetic changes that might guide treatment decisions and clinical trials. Nonetheless, due to a lack of large-scale multicenter clinical validation, these putative targets have not been converted into patient survival advantages. So, it's crucial to ascertain whether genetic analysis is clinically feasible, useful, and whether it can be advantageous for patients. We sequenced tumour tissue and blood samples (as normal controls) from 111 Chinese HCC patients at Qingdao University Hospital using the 508-gene panel and the 688-gene panel, respectively. Approximately 95% of patients had gene variations related to targeted treatment, with 50% having clinically actionable mutations that offered significant information for targeted therapy. Immune cell infiltration was enhanced in individuals with TP53 mutations but decreased in patients with CTNNB1 and KMT2D mutations. More notably, we discovered that SPEN, EPPK1, and BRCA2 mutations were related to decreased median overall survival, although MUC16 mutations were not. Furthermore, we found mutant MUC16 as an independent protective factor for the prognosis of HCC patients after curative hepatectomy. In conclusion, this study connects genetic abnormalities to clinical practice and potentially identifies individuals with poor prognoses who may benefit from targeted treatment or immunotherapy.
Identification of shared gene signatures and pathways for diagnosing osteoporosis with sarcopenia through integrated bioinformatics analysis and machine learning
Authors: Zhou Xiaoli , Zhao Lina , Zhang Zepei , Chen Yang , Chen Guangdong , Miao Jun , Li Xiaohui 
Published: June 2024

Abstract
Background
Prior studies have suggested a potential relationship between osteoporosis and sarcopenia, both of which can present symptoms of compromised mobility. Additionally, fractures among the elderly are often considered a common outcome of both conditions. There is a strong correlation between fractures in the elderly population, decreased muscle mass, weakened muscle strength, heightened risk of falls, and diminished bone density. This study aimed to pinpoint crucial diagnostic candidate genes for osteoporosis patients with concomitant sarcopenia.

Methods
Two osteoporosis datasets and one sarcopenia dataset were obtained from the Gene Expression Omnibus (GEO). Differential expression genes (DEGs) and module genes were identified using Limma and Weighted Gene Co-expression Network Analysis (WGCNA), followed by functional enrichment analysis, construction of protein–protein interaction (PPI) networks, and application of a machine learning algorithm (least absolute shrinkage and selection operator (LASSO) regression) to determine candidate hub genes for diagnosing osteoporosis combined with sarcopenia. Receiver operating characteristic (ROC) curves and column line plots were generated.

Results
The merged osteoporosis dataset comprised 2067 DEGs, with 424 module genes filtered in sarcopenia. The intersection of DEGs between osteoporosis and sarcopenia module genes consisted of 60 genes, primarily enriched in viral infection. Through construction of the PPI network, 30 node genes were filtered, and after machine learning, 7 candidate hub genes were selected for column line plot construction and diagnostic value assessment. Both the column line plots and all 7 candidate hub genes exhibited high diagnostic value (area under the curve ranging from 1.00 to 0.93).

Conclusion
We identified 7 candidate hub genes (PDP1, ALS2CL, VLDLR, PLEKHA6, PPP1CB, MOSPD2, METTL9) and constructed column line plots for osteoporosis combined with sarcopenia. This study provides reference for potential peripheral blood diagnostic candidate genes for sarcopenia in osteoporosis patients.
Offering extended use of the contraceptive implant via an implementation science framework: a qualitative study of clinicians’ perceived barriers and facilitators
Authors: Rigler Nicole , Kully Gennifer , Hildebrand Marisa C. , Averbach Sarah , Mody Sheila K. 
Published: June 2024

Abstract
Background
The etonogestrel contraceptive implant is currently approved by the United States Food and Drug Administration (FDA) for the prevention of pregnancy up to 3 years. However, studies that suggest efficacy up to 5 years. There is little information on the prevalence of extended use and the factors that influence clinicians in offering extended use. We investigated clinician perspectives on the barriers and facilitators to offering extended use of the contraceptive implant.

Methods
Using the Consolidated Framework for Implementation Research (CFIR), we conducted semi-structured qualitative interviews. Participants were recruited from a nationwide survey study of reproductive health clinicians on their knowledge and perspective of extended use of the contraceptive implant. To optimize the diversity of perspectives, we purposefully sampled participants from this study. We used content analysis and consensual qualitative research methods to inform our coding and data analysis. Themes arose deductively and inductively.

Results
We interviewed 20 clinicians including advance practice clinicians, family medicine physicians, obstetrician/gynecologist and complex family planning sub-specialists. Themes regarding barriers and facilitators to extended use of the contraceptive implant emerged. Barriers included the FDA approval for 3 years and clinician concern about liability in the context of off-label use of the contraceptive implant. Educational materials and a champion of extended use were facilitators.

Conclusions
There is opportunity to expand access to extended use of the contraceptive implant by developing educational materials for clinicians and patients, identifying a champion of extended use, and providing information on extended use prior to replacement appointments at 3 years.
The neural and genetic underpinnings of different developmental trajectories of Attention-Deficit/Hyperactivity Symptoms in children and adolescents
Authors: Wang Yanpei , Ma Leilei , Wang Jiali , Ding Yuyin , Liu Ningyu , Men Weiwei , Tan Shuping , Gao Jia-Hong , Qin Shaozheng , He Yong , Dong Qi , Tao Sha 
Published: June 2024

Abstract

Background

The trajectory of attention-deficit hyperactivity disorder (ADHD) symptoms in children and adolescents, encompassing descending, stable, and ascending patterns, delineates their ADHD status as remission, persistence or late onset. However, the neural and genetic underpinnings governing the trajectory of ADHD remain inadequately elucidated.

Methods
In this study, we employed neuroimaging techniques, behavioral assessments, and genetic analyses on a cohort of 487 children aged 6–15 from the Children School Functions and Brain Development project at baseline and two follow-up tests for 1 year each (interval 1: 1.14 ± 0.32 years; interval 2: 1.14 ± 0.30 years). We applied a Latent class mixed model (LCMM) to identify the developmental trajectory of ADHD symptoms in children and adolescents, while investigating the neural correlates through gray matter volume (GMV) analysis and exploring the genetic underpinnings using polygenic risk scores (PRS).

Results
This study identified three distinct trajectories (ascending-high, stable-low, and descending-medium) of ADHD symptoms from childhood through adolescence. Utilizing the linear mixed-effects (LME) model, we discovered that attention hub regions served as the neural basis for these three developmental trajectories. These regions encompassed the left anterior cingulate cortex/medial prefrontal cortex (ACC/mPFC), responsible for inhibitory control; the right inferior parietal lobule (IPL), which facilitated conscious focus on exogenous stimuli; and the bilateral middle frontal gyrus/precentral gyrus (MFG/PCG), accountable for regulating both dorsal and ventral attention networks while playing a crucial role in flexible modulation of endogenous and extrinsic attention. Furthermore, our findings revealed that individuals in the ascending-high group exhibited the highest PRS for ADHD, followed by those in the descending-medium group, with individuals in the stable-low group displaying the lowest PRS. Notably, both ascending-high and descending-medium groups had significantly higher PRS compared to the stable-low group.

Conclusions
The developmental trajectory of ADHD symptoms in the general population throughout childhood and adolescence can be reliably classified into ascending-high, stable-low, and descending-medium groups. The bilateral MFG/PCG, left ACC/mPFC, and right IPL may serve as crucial brain regions involved in attention processing, potentially determining these trajectories. Furthermore, the ascending-high pattern of ADHD symptoms exhibited the highest PRS for ADHD.
Ageism and lookism as stereotypes of health disparity in intensive care units in Iran: a critical ethnography
Authors: Yarahmadi Sajad , Soleimani Mohsen , Gholami Mohammad , Fakhr-Movahedi Ali , Madani Seyed Mohsen Saeidi 
Published: June 2024

Abstract
Background
The intensive care unit presents structural complexities, and the prevailing power imbalance between patients and staff can lead to health disparities. Hence, unveiling the underlying factors that give rise to and reinforce these disparities can contribute to their prevention. This study aims to shed light on the stereotypes linked to ageism and lookism, which perpetuate health disparities within the intensive care unit setting in Iran.

Methods
This critical ethnographic study employed Carsepkan’s approach and was carried out in intensive care units in the west of Iran from 2022 to 2023. The data collection and analysis were conducted through three interconnected stages. In the initial stage, more than 300 h of observations were made at the research site. In the subsequent stage, a horizon analysis was performed. Conversations with 14 informants were conducted in the final stage to enrich the dataset further. Then the analysis process was carried out as in the previous step to uncover an implicit culture of health disparity. To verify the validity and reliability of the study, credibility, conformability, dependability, and transferability were all taken into account.

Findings
The ageism and lookism stereotypes emerged from seven main themes; youth-centric; negative ageism; age-friendliness; age-related priority; centered care for pediatric patients and families; appearance-centeredness; and a contradiction between belief and behavior.

Conclusion
This critical study showed that ageism and lookism stereotypes permeated the intensive care unit’s culture. These stereotypes have the potential to influence equality dynamics, as well as to foster and support health disparity in the intensive care unit.
Association between triglyceride glucose-waist to height ratio and coronary heart disease: a population-based study
Authors: Zhuang Yangping , Wang Yu , Sun Peifen , Ke Jun , Chen Feng 
Published: June 2024

Abstract
Background
The Triglyceride glucose (TyG) index-related indicators improve risk stratification by identifying individuals prone to atherosclerosis early in life. This study aimed to examine the relation between TyG-waist circumference-to-height ratio (TyG-WHtR) and coronary heart disease.

Methods
Data from four National Health and Nutrition Examination Surveys (NHANES) cycles between 2011 and 2018 were used for a cross-sectional study. The association between TyG-WHtR and coronary heart disease risk was examined using a multifactorial logistic regression model, and corresponding subgroup analyses were performed. Nonlinear correlations were analyzed using smooth curve fitting and threshold effects analysis. When nonlinear connections were discovered, appropriate inflection points were investigated using recursive methods.

Results
TyG-WHtR and coronary heart disease were significantly positively correlated in the multifactorial logistic regression analysis. Subgroup analyses and interaction tests revealed that gender, age, smoking status, and cancer were not significantly associated with this correlation (P for interaction > 0.05). Furthermore, utilizing threshold effect analysis and smooth curve fitting, a nonlinear connection with an inflection point of 0.36 was observed between TyG-WHtR and coronary heart disease.

Conclusions
According to this study, the American population is far more likely to have coronary heart disease if they have higher TyG-WHtR levels.
Association of blood urea nitrogen with all-cause and cardiovascular mortality in hyperlipidemia: NHANES 1999–2018
Authors: Shen Jing , Wang Zhen , Liu Yong , Wang Tao , Wang Xiao-Yu , Qu Xin-Hui , Chen Zhi-Ping , Han Xiao-Jian 
Published: June 2024

Abstract
Objective
Although blood urea nitrogen (BUN) has a crucial impact on many diseases, its effect on outcomes in patients with hyperlipidemia remains unknown. The study aimed to investigate the relationships between BUN levels and all-cause and cardiovascular disease (CVD) mortality in individuals with hyperlipidemia.

Methods
This analysis comprised 28,122 subjects with hyperlipidemia from the National Health and Nutrition Examination Survey (NHANES) spanning 1999 to 2018. The risk of BUN on mortality was evaluated using weighted Cox regression models. Additionally, to illustrate the dose-response association, the restricted cubic spline (RCS) was used.

Results
During the observation period, 4276 participant deaths were recorded, of which 1206 were due to CVD. Compared to patients with hyperlipidemia in the third BUN quintile, the hazard ratios (HRs) for all-cause mortality were 1.26 (95% CIs: 1.09, 1.45) and 1.22 (95% CIs: 1.09, 1.37) for patients in the first and fifth quintiles of BUN, respectively. The HRs for CVD mortality among patients in the fifth quintile of BUN were 1.48 (95% CIs: 1.14, 1.93). BUN levels were found to have a U-shaped association with all-cause mortality and a linear association with CVD mortality using restricted triple spline analysis.

Conclusions
This study revealed that both low and high BUN levels in patients with hyperlipidemia are associated with heightened all-cause mortality. Furthermore, elevated BUN levels are also associated with increased CVD mortality. The findings indicate that patients with hyperlipidemia may face an elevated risk of death if they have abnormal BUN levels.
Country-specific determinants for COVID-19 case fatality rate and response strategies from a global perspective: an interpretable machine learning framework
Authors: Zhou Cui , Wheelock Åsa M. , Zhang Chutian , Ma Jian , Li Zhichao , Liang Wannian , Gao Jing , Xu Lei 
Published: June 2024

Abstract
Background
There are significant geographic inequities in COVID-19 case fatality rates (CFRs), and comprehensive understanding its country-level determinants in a global perspective is necessary. This study aims to quantify the country-specific risk of COVID-19 CFR and propose tailored response strategies, including vaccination strategies, in 156 countries.

Methods
Cross-temporal and cross-country variations in COVID-19 CFR was identified using extreme gradient boosting (XGBoost) including 35 factors from seven dimensions in 156 countries from 28 January, 2020 to 31 January, 2022. SHapley Additive exPlanations (SHAP) was used to further clarify the clustering of countries by the key factors driving CFR and the effect of concurrent risk factors for each country. Increases in vaccination rates was simulated to illustrate the reduction of CFR in different classes of countries.

Findings
Overall COVID-19 CFRs varied across countries from 28 Jan 2020 to 31 Jan 31 2022, ranging from 68 to 6373 per 100,000 population. During the COVID-19 pandemic, the determinants of CFRs first changed from health conditions to universal health coverage, and then to a multifactorial mixed effect dominated by vaccination. In the Omicron period, countries were divided into five classes according to risk determinants. Low vaccination-driven class (70 countries) mainly distributed in sub-Saharan Africa and Latin America, and include the majority of low-income countries (95.7%) with many concurrent risk factors. Aging-driven class (26 countries) mainly distributed in high-income European countries. High disease burden-driven class (32 countries) mainly distributed in Asia and North America. Low GDP-driven class (14 countries) are scattered across continents. Simulating a 5% increase in vaccination rate resulted in CFR reductions of 31.2% and 15.0% for the low vaccination-driven class and the high disease burden-driven class, respectively, with greater CFR reductions for countries with high overall risk (SHAP value > 0.1), but only 3.1% for the ageing-driven class.

Conclusions
Evidence from this study suggests that geographic inequities in COVID-19 CFR is jointly determined by key and concurrent risks, and achieving a decreasing COVID-19 CFR requires more than increasing vaccination coverage, but rather targeted intervention strategies based on country-specific risks.
Cytokines and lymphocyte subsets are associated with disease severity of severe fever with thrombocytopenia syndrome
Authors: Song Li , Zou Wenlu , Wang Gang , Qiu Ling , Sai Lintao 
Published: June 2024

AbstractBackgroundSevere fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease caused by severe fever with thrombocytopenia syndrome virus (SFTSV). Previous studies have indicated that SFTS patients have a high mortality rate, which may be related to cytokine storm and immune dysfunction. In our study, we analyzed differences in cytokines and lymphocyte subsets between severe and non-severe SFTS patients, with the aim of identifying predictors of severity.MethodsWe retrospectively analyzed demographic characteristics, clinical data, cytokine profiles, and lymphocyte subsets from 96 laboratory confirmed SFTS patients between April 2021 and August 2023.ResultsA total of 96 SFTS patients were enrolled, with a mean age of 65.05 (± 7.92) years old. According to our grouping criteria, 35 (36.5%) of these patients were classified as severe group, while 61 (63.5%) were classified as non-severe group. Univariate analysis revealed that age, interleukin-6 (IL-6), interleukin-8 (IL-8), interleukin-10 (IL-10), interferon-α (IFN-α), CD4 + T cell, and CD8 + T cell counts were risk predictors for the severity of SFTS. Further multivariable logistic regression analysis confirmed age, IL-6 levels, and CD4 + T cell counts as independent predictors of SFTS severity.ConclusionsSevere SFTS patients may experience cytokine storms and immune dysfunction. Aging, elevated levels of IL-6, and decreased CD4 + T cell count may serve as independent predictors for the severity of SFTS.