bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between Cardiometabolic index and endometriosis in a US nationally representative sample: results from NHANES 1999-2006
Authors: Hou Jiarui , Chen Wenting , Wang Rui , Huang Xuchun , Cao Xiaojing , Wang Xiaoyun 
Published: November 2024

BackgroundEndometriosis is an estrogen-dependent gynecological endocrine condition and a systemic inflammatory disease associated to improper lipid metabolism and increased cardiovascular risk. The Cardiometabolic Index (CMI) is a novel indicator representing visceral adipose tissue distribution and metabolic dysfunction, integrating lipid metabolism indicators and the waist-to-height ratio. While anomalies in lipid metabolism are often associated with (BMI) Body Mass Index, literature consistently shows a negative link between endometriosis and female BMI, and some studies have found that endometriosis is one of the few reproductive diseases not persistently positively correlated with obesity. Given the limitations of BMI, a comprehensive index like CMI is crucial for exploring the incidence of endometriosis. Currently, research on the correlation between CMI and endometriosis is lacking, prompting this study to investigate this association.ObjectiveTo investigate the association between the CMI and the risk of having endometriosis in a sample representing the entire U.S. population.Study designA cross-sectional analysis was conducted using data from four cycles of the National Health and Nutrition Examination Survey (NHANES) spanning the years 1999 to 2006. The study included individuals aged 20 to 54 with a documented history of endometriosis and complete CMI data. Logistic regression analysis, subgroup and interaction analyses, smooth curve fitting, and restricted cubic splines (RCS) were utilized to examine the association between CMI and endometriosis.ResultsThe study found that individuals with higher CMI had an increased probability of developing endometriosis. This relationship remained significant after adjusting for potential confounders such as age, ethnicity, Poverty Income Ratio (PIR), drinking, smoking, education level, and marital status. The fully adjusted model revealed a positive correlation between CMI and endometriosis (OR = 1.21; 95% CI, 1.04–1.40, p &lt; 0.05). Subgroup and interaction analyses showed no significant effect modification by age, BMI, PIR, hypertension, drinking, smoking, or menarche age (all p-values for interaction &gt; 0.05).ConclusionOur study shows a link between CMI and the chance of getting endometriosis.Due to the common occurrence of endometriosis and the lack of clarity surrounding their cause, more study is needed to confirm our results and find out if CMI could be used as a warning sign for endometriosis.
Transcriptomic profiling with vascular tension analyses reveals molecular targets and phenotypes in preeclamptic placental vasculature
Authors: Zhang Eryun , Zhou Tao , Zheng Qiutong , Zheng Xiaomin , Zhang Yingying , Liu Bailin , Tang Jiaqi , Xu Zhice 
Published: November 2024

IntroductionThe placental vascular system plays an important role in the development of pregnancy hypertension in preeclampsia. The gene profiles of whole placental tissue (containing blood vessels and many other structural components) and pure vascular tissue should be very different. All previous reports using RNA-seq analysis in the placenta have tested its whole tissue or the villous part, and thus the gene profiles in the pure placental blood vessels are unknown.MethodsThis study was the first to address this point with RNA-seq in human placenta at the transcript level. Isolated placental micro-vessels from normal and preeclamptic pregnancies were used for RNA-seq analysis, real-time quantitative polymerase chain reaction (RT-qPCR) verification, and vascular function tests. Furthermore, a vascular function-centric core network was constructed to show the gene-gene interactions and gene-function associations in the placental vessel system.ResultsDifferential expression analysis identified a total of 486 significantly changed transcripts. Bioinformatics analysis further confirmed that multiple genes were highly related to blood vessel and placental phenotypes. Several hub genes, including ELMO1, YWHAE, and IL6ST, were significantly reduced in the placental vessels in preeclampsia. Vascular tension experiments showed that angiotensin II-mediated vasoconstriction and exogenous NO donor sodium nitroprusside-induced vasodilation were decreased, while phenylephrine-mediated vascular responses were unchanged in placental micro-vessels in preeclampsia.DiscussionThe results provide important insights into the pathological process in the placental vasculature in preeclampsia and offer great potential for further investigation of these molecular targets in the human placental vascular system.
Visfatin and VEGF levels are not increased in adolescent girls with polycystic ovary syndrome
Authors: Skrzyńska Karolina , Zachurzok Agnieszka , Pietrusik Agnieszka , Jakubowska-Kowal Karolina , Gawlik-Starzyk Aneta 
Published: November 2024

IntroductionPCOS is one of the most commonly occurring endocrinopathies among women and increasingly affects adolescent populations. The connection between PCOS and various endocrinological, psychological, and CVD is increasingly recognized. Some studies have shown elevated levels of visfatin and VEGF among patients with PCOS, which are markers of vascular endothelial dysfunction. In our study, we evaluated the concentration of these parameters, focusing solely on a group of adolescents with PCOS, to assess whether these early markers of CVD are present at an early stage of diagnosis.Material and methodsIn total, 80 adolescent girls participated in the study. 47 adolescents diagnosed with PCOS were included in the study group (mean age 15.68 ± 1.18 years, BMI 26.66 ± 6.41 kg/m2), while the remaining 33 regularly menstruating individuals (mean age 15.79 ± 1.22 years, BMI 25.44 ± 7.24 kg/m2) were assigned to the control group. Each participant underwent imaging, biochemical, and hormonal tests. Additionally, markers of endothelial dysfunction: VEGF and visfatin, were measured in all adolescents.ResultsBoth VEGF and visfatin levels did not differ significantly between PCOS and control group (p=0.30 and p=0.15, respectively). In the group of adolescent girls with PCOS, visfatin was significantly correlated with HDL, FSH, cortisol, and testosterone levels &gt;55 ng/dl. VEGF was significantly correlated with fasting glucose, glucose levels after OGTT, estradiol, and waist circumference &gt;80 cm.ConclusionIt can be indirectly inferred that both visfatin and VEGF should not be used as early markers for cardiometabolic complications among adolescent patients with PCOS. On the other hand, low visfatin levels, through their negative correlation with HDL, may have a protective effect on cardiovascular complications, while low VEGF levels, through their positive correlation with glucose levels, may have a protective influence on carbohydrate metabolism disorders.
Integrated multiomics characterization reveals cuproptosis-related hub genes for predicting the prognosis and clinical efficacy of ovarian cancer
Authors: Xiaorong Yang , Lu Xu , Fangyue Xu , Chao Xu , Jun Gao , Qiang Wen 
Published: November 2024

BackgroundAs a prevalent malignancy in women, ovarian cancer (OC) presents a challenge in clinical practice because of its poor prognosis and poor therapeutic efficacy. The mechanism by which cuproptosis activity is accompanied by immune infiltration in OC remains unknown. Here, we investigated cuproptosis-related OC subtypes and relevant immune landscapes to develop a risk score (RS) model for survival prediction.MethodsCuproptosis-related genes (CRGs) were identified to construct molecular subtypes via an unsupervised clustering algorithm based on the expression profiles of survival-related CRGs in the GEO database. Single-cell datasets were used to estimate immune infiltration among subtypes. The RS oriented from molecular subtypes was developed via LASSO Cox regression in the TCGA OC dataset and independently validated in the GEO and TCGA datasets. Hub markers from RS were identified in tissues and cell lines. The function of the key gene from RS was identified in vitro.ResultsWe investigated cuproptosis activity and immune infiltration to establish three clinical subtypes of OC based the differentially expressed genes (DEGs) from CRGs to create an RS model validated for clinical efficacy and prognosis. Six hub genes from the RS served as ongenic markers in OC tissues and cell lines. The function of GAS1 in the RS model revealed that it exerts oncogenic effects.ConclusionsOur study provides a novel RS model including 6 hub genes associated with cuproptosis and immune infiltration to predict OC prognosis as well as clinical efficacy.
Coexisting metabolic dysfunction-associated steatotic liver disease exacerbates in-hospital outcomes in patients with heat stroke
Authors: Zhang Ping , Tang Guo , Gao Hongguang , Zhang Tianshan , Yang Sha , Cheng Tao , Yao Rong 
Published: November 2024

PurposeThis study aimed to investigate the impact of coexisting metabolic dysfunction-associated steatotic liver disease (MASLD) on in-hospital mortality and organ injury markers in patients with heat stroke (HS).ApproachHS patients were retrospectively identified between July 1, 2022 and September 30, 2023 at West China Hospital, Sichuan University. Baseline characteristics, such as demographics, initial vital signs, and organ functional indicators were collected. Outcome events included organ injury and in-hospital mortality. The Least Absolute Shrinkage and Selection Operator (Lasso) method was employed to identify the optimal predictors for in-hospital mortality in HS patients. Subsequently, multivariable logistic regression analysis was performed to assess the relationship between the presence of MASLD and in-hospital mortality as well as organ function indicators.FindingsA total of 112 patients were included in the study, in which 27 (24.1%) had coexisting MASLD. Compared to those without MASLD, patients with MASLD had higher levels of various organ injury markers such as aspartate aminotransferase, urea nitrogen, serum cystatin C, creatinine, uric acid, myoglobin, creatine kinase and its isoenzymes upon admission (P &lt; 0.05). The multivariable Logistic regression analysis indicated that the presence of MASLD is an independent risk factor for in-hospital mortality in HS patients.ConclusionThis study firstly indicated that coexisting MASLD may exacerbate organ injury in HS patients and serve as an independent risk factor for in-hospital mortality.
Transcriptome analyses reveal molecular mechanisms of novel compound heterozygous ACO2 variants causing infantile cerebellar retinal degeneration
Authors: Yang Wenke , Wang Shuyue , Yang Ke , Li Yanjun , Guo Zhenglong , Huang Jianmei , Wang Jinming , Liao Shixiu 
Published: November 2024

Background and purposeInfantile cerebellar retinal degeneration (ICRD) (OMIM #614559) is a rare autosomal recessive inherited disease associated with mutations in the aconitase 2 (ACO2) gene. We report a Chinese girl with novel compound heterozygous variants in ACO2, who presented at 7 months of age with psychomotor retardation, truncal hypotonia, and ophthalmologic abnormalities. This study aims to investigate the potential molecular mechanisms underlying ACO2 deficiency-induced neuropathy.MethodsWhole exome sequencing was performed on family members to screen for potential pathogenic mutations, followed by Sanger sequencing for validation. Mitochondrial aconitase activity and mitochondrial DNA (mtDNA) copy number were measured using an aconitase activity detection kit and quantitative PCR, respectively. Transcriptome expression profiles from patient cells, and cerebellar and retinal organoids retrieved from the GEO database were integrated. Functional enrichment analysis and protein-protein interaction networks were used to identify key molecules, and their expression levels were validated using Western blot analysis.ResultsGenetic testing revealed novel compound heterozygous variations in the proband's ACO2 gene (NM:001098), including c.854A&gt;G (p.Asn285Ser) and c.1183C&gt;T (p.Arg395Cys). Predictive analysis of the tertiary structure of the ACO2 protein suggests that both p.Asn285Ser and p.Arg395Cys affect the binding ability of ACO2 to ligands. The mitochondrial aconitase activity and mtDNA copy number in the proband's leukocytes were significantly reduced. Transcriptomic data analysis identified 80 key candidate genes involved in ACO2-related neuropathy. Among these, LRP8 and ANK3, whose gene expression levels were significantly positively correlated with ACO2, were further validated by Western blot analysis.ConclusionsThis study expands the spectrum of pathogenic ACO2 variants, elucidates the potential molecular mechanisms underlying ACO2-related neuropathy, provides in-depth support for the pathogenicity of ACO2 genetic variations, and offers new insights into the pathogenesis of ICRD.
Influence of an inspiratory muscle fatigue protocol on older adults on respiratory muscle strength and heart rate variability. A randomized controlled trial
Authors: Ladriñán-Maestro Arturo , Sánchez-Infante Jorge , Martín-Vera Daniel , Del-Blanco-Muñiz José Ángel , Merino-Andrés Javier , Sánchez-Sierra Alberto 
Published: November 2024

IntroductionInspiratory muscle fatigue has been shown to have effects on the autonomic nervous system and physical condition. This study aimed to evaluate the influence of an inspiratory muscle fatigue protocol on respiratory muscle strength and heart rate variability in older adults.Materials and methodsA randomized controlled clinical trial with double-blinding was carried out involving 24 individuals over 60 years old who demonstrated physical independence in walking and movement. Participants were distributed randomly into three groups: Inspiratory muscle fatigue, activation and control. Measurements of heart rate variability, diaphragmatic ultrasound, and maximum inspiratory pressure were taken at two stages: prior to the intervention (T1) and directly after treatment (T2).ResultsThe inspiratory muscle fatigue group exhibited decrease scores in respiratory and heart rate variability subsequent to undergoing the diaphragmatic fatigue intervention compared to both the activation and control groups (p &lt; 0.05). Conversely, the activation group demonstrated higher values in heart rate variability and respiratory capacity variables following the inspiratory muscle activation training (p &lt; 0.05).ConclusionsFatigue of the inspiratory musculature appears to negatively impact heart rate variability and inspiratory muscle strength in older adults.Clinical trial registrationhttps://clinicaltrials.gov/study/NCT06269042, identifier: NCT06269042.
Microstructure, electrical resistivity, and tensile properties of neutron-irradiated Cu–Cr–Nb–Zr
Authors: Perrin Alice , Hamaguchi Dai , Geringer Josina W. , Zinkle Steve , Yang Ying , Skutnik Steve , Poplawsky Jon , Katoh Yutai 
Published: November 2024

High strength, high conductivity copper alloys that can resist creep at high temperatures are one of the primary candidates for efficient heat exchangers in fusion reactors. Cu–Cr–Nb–Zr (CCNZ) alloys, which were designed to improve the strength and creep life of ITER Cu–Cr–Zr (CCZ) reference alloys, have been found to have comparable electrical conductivity and tensile properties to CCZ alloys. The measured creep rupture times for these improved alloys is about ten times higher than the ITER reference alloys at 90–125 MPa at 500 °C. However, the effects of neutron irradiation on these alloys, and the ensuing material properties, have not been studied; thus, their utility in a fusion reactor environment is not well understood. This study characterizes the room temperature mechanical and electrical properties of a neutron-irradiated CCNZ alloy and compares them to a neutron-irradiated ITER reference heat sink CCZ alloy. Tensile specimens were neutron irradiated in the High Flux Isotope Reactor (HFIR) to 5 dpa between 250 °C and 325 °C. Post-irradiation characterization included electrical resistivity measurements, hardness, and tensile tests. Microstructural evaluation used scanning electron microscopy, energy dispersive x-ray spectroscopy, and atom probe tomography to characterize the irradiation-produced changes in the microstructure and investigate the mechanistic processes leading to post-irradiation properties. Transmutation calculations were validated with composition measurements from atom probe data and used to calculate contributions to the increased electrical resistivity measured after irradiation. Comparisons with CCZ alloys in the same irradiation heat found that the post-irradiated CCNZ and CCZ alloys had comparable electrical resistivity. Although CCNZ alloys suffered more irradiation hardening than CCZ, the overall tensile behavior deviated very little from non-irradiated values in the temperature range studied.
Prognostic significance of collagen content in solitary fibrous tumors of the central nervous system
Authors: Li Xiaoling , Zhang Hua , Hu Chengcong , Hu Liwen , Guo Huibin , Chen Hongbao , Li Guoping , Huang Qian , Jiang Shuie , Zhang Sheng , Xing Zhen , Wang Xingfu 
Published: November 2024

PurposeWe aimed to explore the prognostic significance of collagen content in solitary fibrous tumors (SFTs) of the central nervous system (CNS) and preliminarily investigate its relationship with magnetic resonance imaging (MRI) features of SFTs.MethodsCollagen content was identified using Masson’s trichrome staining, and quantitatively assessed. Radiomic methods were applied to extract quantitative MRI features of SFTs, which were then analyzed in relation to collagen content.ResultsThe collagen content in CNS SFTs was categorized into high- and low-content groups, with a cutoff value of 6%. Survival analysis indicated a positive correlation between collagen content and overall survival (OS). In multivariate Cox regression analysis, incorporating factors such as mitosis, necrosis, Ki67, and collagen content and other indicators, collagen content emerged as an independent prognostic factor. Collagen content demonstrated a negative correlation with tumor histological phenotype, Ki67, WHO grade, mitosis, necrosis, and brain invasion. Additionally, the signal intensity of SFTs on T2-weighted imaging (T2WI) decreased with increasing collagen content. Radiomics analysis identified 1,702 features from each patient’s region of interest, with 12 features showing significant differences between the high and low collagen content groups. Among the quantitative parameters and radiomic models, the combined T1- and T2WI models exhibited the highest diagnostic performance.ConclusionThese findings suggest that collagen content is an independent prognostic risk factor for OS. Furthermore, combined radiomic models based on T1-and T2WI sequences may offer a more comprehensive, objective, and accurate assessment of collagen content in CNS SFTs.
A pyroptosis-related lncRNA risk model for the prediction of prognosis and immunotherapy response in head and neck squamous cell carcinoma
Authors: Ren Jingyuan , Yan Bingrui , Wang Xurui , Wang Yifei , Li Qiuying , Sun Yanan 
Published: November 2024

BackgroundRecent research has highlighted pyroptosis as a key factor in cancer progression. This study aims to explore the association between pyroptosis-related signatures and overall survival (OS) in head and neck squamous cell carcinoma (HNSC) and develop a pyroptosis-related long non-coding RNA (lncRNA) risk model to predict prognosis and response to immunotherapy in HNSC.MethodsWe extracted expression data for 18 pyroptosis-related genes and identified lncRNA probes specific to HNSC by using datasets from the Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA). Consensus clustering was performed to categorize HNSC patients into distinct subtypes. A six-lncRNA risk score model was constructed through univariate and least absolute shrinkage and selection operator (LASSO) Cox regression analyses. We evaluated the predictive ability of the lncRNA model for patients’ survival and immunotherapy response. Gene expression was evaluated using immunohistochemistry (IHC) and Reverse Transcription Quantitative Polymerase Chain Reaction (RT-qPCR).ResultsOur analysis revealed two distinct pyroptosis-related subtypes in HNSC patients, Cluster A and Cluster B. Notably, patients in Cluster B exhibited significantly poorer overall survival compared to those in Cluster A. Through differential expression analysis, we identified six lncRNAs (AC002331.1, CTA-384D8.35, RP11-291B21.2, AC006262.5, RP1-27K12.2, and RP11-54H7.4) that were differentially expressed between these clusters. A 6-lncRNA risk score model was developed, which successfully stratified patients into high- and low-risk groups with distinct overall survival outcomes. Validation using RT-qPCR confirmed the differential expression of these six lncRNAs in HNSC tumor tissues compared to adjacent normal tissues, we found that the expression of CTA-384D8.35 was significantly increased in the tumor group (t=-6.203, P&lt;0.001). Furthermore, the 6-lncRNA risk score model demonstrated a significant association with patient response to immunotherapy, with the low-risk group exhibiting a higher objective response rate to immune checkpoint blockade (ICB) therapy and longer survival compared to the high-risk group.ConclusionOur study underscores the role of pyroptosis signatures in HNSC prognosis and identifies two distinct pyroptosis subtypes with differing survival outcomes. The six-lncRNA risk score model offers a valuable tool for predicting patient prognosis and potential benefits from ICB therapy. These findings highlight the importance of pyroptosis and associated lncRNAs in the tumor microenvironment, paving the way for novel targeted therapies in HNSC.
Selective uterine artery embolization is a valid adjuvant treatment of choriocarcinoma: a case report and literature review
Authors: Chen Yuying , Sun Tingting , Yuan Linjing , Huang Yucong , Yusufu Aligu , Zhang Yang , Zhang Xiaoyan , He Shasha , Ren Yufeng , Yao Shuzhong , Yang Guofen 
Published: November 2024

BackgroundCervical choriocarcinoma is an extremely rare malignancy that is often misdiagnosed due to its nonspecific symptoms, such as vaginal bleeding.Case reportA 39-year-old female presented to the emergency department of the First Affiliated Hospital of Sun Yat-sen University with vaginal bleeding and a serum β-human chorionic gonadotropin (β-HCG) level of 229,386 mIU/mL. Initially, she was misdiagnosed with cervical pregnancy and subsequently underwent selective uterine artery embolization and cervical mass excision. However, pathological examination revealed the diagnosis of cervical choriocarcinoma.ConclusionThis case highlights the propensity for misdiagnosis of cervical choriocarcinoma. Selective uterine artery embolization proves to be an efficient measure to manage hemorrhage and potentially avoid unnecessary hysterectomy.