Future Diagnosis Research Articles

Carotid pulse wave velocity estimation based on incident waves using coherent plane wave compounding ultrasound

Objective. Local pulse wave velocity (PWV) plays a crucial role in assessing the regional arterial elasticity. Accurate estimation of local PWV is beneficial for the risk assessment and early diagnosis of cardiovascular diseases. In this study, a method involving incident waves based on coherent plane wave compounding ultrasound (IWCU) is proposed to suppress reflected waves in pulse waves (PW) and improve the performance of transit time (TT)-based local PWV estimation.Approach. The ultrasonic radio frequency echo signals are collected and coherently compounded, and the PWs and central blood flow velocities at 128 beam positions are calculated, from which the incident waves (IWs) are estimated based on the Kelvin-Voigt model. Then, the time delays (TDs) of the IWs propagating are calculated, and the local PWV is finally estimated. The mean and standard deviations (MSD) of the normalized root mean squared errors NRMSEs between the presupposed and estimated TDs and PWVs were calculated for quantitatively evaluating the performance of the proposed IWCU method, and compared with those of the PWs based on coherent plane wave compounding ultrasound and the regional upstroke tracking methods in simulation experiments. The relative errors, Bland-Altman analysis and coefficient of variation (CV) were measured to further assess the accuracy, reproducibility and variability of IWCU method inin vitroandin vivoexperiments.Main results. The IWCU method yields higher accuracy, reproducibility and lower variability for local PWV estimation. The MSD of the NRMSEs for TDs and local PWVs are 11.78 ± 0.52% and 4.10 ± 2.25%. Additionally, the mean relative error and CV are 6.10% and 12.56%, respectively.Significance. The IWCU method provides improved TT-based local PWV estimation, and has the potential to support future clinical diagnoses of arterial stiffness.

Rationale and protocol of the LEAD 2.0 study: a randomized controlled trial assessing the feasibility of a virtually delivered 6-month exercise and nutrition intervention in older adults with subjective cognitive decline (SCD)

BackgroundWith growing prevalence of dementia worldwide, dementia risk reduction is a key interest of the World Health Organization’s Global Dementia Action Plan. Subjective cognitive decline (SCD) is a prominent predictor of future dementia diagnosis. Therefore, people with SCD are an important group for dementia prevention intervention. Exercise and healthy diet are associated with a 30–60% decrease in dementia risk in longitudinal studies. Technological advances yield the potential of trials that deliver lifestyle interventions virtually, reaching people in a wide geographical spread. However, the feasibility of large-scale virtual trials still needs to be established.ObjectiveThis trial aims to examine the feasibility of a factorial randomized controlled trial exploring a 6-month virtual, exercise and healthy diet intervention. Secondary objectives will examine whether feasibility outcomes vary by gender or technology access.MethodsWe will recruit 140 older adults (65 + years) with SCD, who will receive a combination of Aerobic and Resistance Exercise (EX) or Stretching and Toning (STRETCH) and either Diet Counseling (DIET) or Brain Health Education (ED). Participants will be randomized to four weekly hours of one of four intervention arms: (1) EX and DIET; (2) EX and ED; (3) STRETCH and DIET; or (4) STRETCH and ED. EX will include moderate intensity aerobic and resistance training. DIET will instruct participants in brain healthy food choices. Assessments will be performed virtually at baseline, 6 months (post-intervention), and 12 months. Feasibility will be measured by recruitment rate, adherence, and retention.DiscussionEstablished feasibility will set the stage for a definitive trial. Feasibility results will also inform future virtual programs/services. In the long-term, if the interventions are feasible and beneficial, this intervention model could scale up and spread quickly to reach at-risk individuals for the purpose of dementia risk reduction.Trial registrationThe Lifestyle, Exercise, and Diet (LEAD 2.0) study is registered with the US National Institutes of Health clinical trials registry (ClinicalTrials.gov identifier NCT06078748). This report complies with the Standard Protocol Items: Recommendations for Interventional Trials (SPIRIT) statement.

Characterizing Multivariate Regional Hubs for Schizophrenia Classification, Sex Differences, and Brain Age Estimation Using Explainable AI

Purpose This study aimed to investigate multivariate regional patterns for schizophrenia (SZ) classification, sex differences, and brain age by utilizing structural MRI, demographics, and explainable artificial intelligence (AI). Methods Various AI models were employed, and the outperforming model was identified for SZ classification, sex differences, and brain age predictions. For the SZ and sex classification tasks, support vector classifier (SVC), k-nearest neighbor (KNN), and deep learning neural network (DL) models were compared. In the case of regression-based brain age prediction, Lasso regression (LR), Ridge regression (RR), support vector regression (SVR), and DL models were compared. For each regression or classification task, the optimal model was further integrated with the Shapley additive explanations (SHAP), and significant multivariate brain regional patterns were identified. Results Our results demonstrated that the DL model outperformed other models in SZ classification, sex differences, and brain age predictions. We then integrated outperforming DL model with SHAP, and this integrated DL-SHAP model was used to identify the individualized multivariate regional patterns associated with each prediction. Using the DL-SHAP approach, we found that individuals with SZ had anatomical changes, particularly in the left pallidum, left posterior insula, left hippocampus, and left putamen regions, and such changes associated with SZ were different between female and male patients. Finally, we further applied the DL-SHAP method to brain age prediction and suggested important brain regions related to aging in health controls (HC) and SZ processes. Conclusion This study systematically utilized predictive modeling and novel explainable AI approaches and identified the complex multivariate brain regions involved with SZ classification, sex differences, and brain aging, thereby building a deeper understanding of neurobiological mechanisms involved in the disease, offering new insights into future SZ diagnosis and treatments, and laying the foundation for the development of precision medicine.

Functional connectivity across multi-frequency bands in patients with tension-type headache: a resting-state fMRI retrospective study

ObjectivesTension-type headache (TTH) is the most common nervous system disorder worldwide. This study aimed to examine abnormal network-level brain functional connectivity (FC) alterations in patients with TTH across multi-frequency bands.MethodsThe study enrolled 63 subjects, comprising 32 patients with TTH and 31 healthy controls (HC). According to our team's previous research, the brain regions with abnormal ReHo in the conventional frequency band (0.01–0.08 Hz) and the slow-5 band (0.01–0.027 Hz) were chosen as seed regions of interest (ROIs). Subsequently, the FC between ROIs and the entire brain analysis across various frequency bands was calculated to evaluate network-level alterations, and differences between the TTH and HC were analyzed. Pearson’s correlation analysis was conducted to assess the relationship between significantly altered FC values in two frequency bands and visual analog score (VAS) in TTH patients.ResultsIn the slow-5 band (0.01–0.027 Hz), FC between right medial superior frontal gyrus and right medial temporal pole/right inferior temporal gyrus as well as right middle frontal gyrus and left supramarginal gyrus of TTH patients exhibited significantly higher, compared to the HC group, while FC between right middle frontal gyrus and right lateral occipital cortex reduced. For the correlation results, there was no correlation between abnormal brain regions of FC and VAS score.ConclusionsChanges in FC within brain regions associated with TTH are linked to pain processing. And the altered FC in TTH patients were frequency dependent. These initial observations could enhance our understanding of TTH’s pathophysiological mechanism and offer insights for its future diagnosis and treatment.

Three-dimensional Pseudo-continuous Arterial Spin Labeling Technique to Assess Cerebral Perfusion Changes in End-stage Renal Disease Patients Undergoing Hemodialysis.

Three-dimensional Pseudo-continuous Arterial Spin Labeling Technique to Assess Cerebral Perfusion Changes in End-stage Renal Disease Patients Undergoing Hemodialysis.

BDNF mediates the heart-brain axis: implications for cardiovascular diseases and mental disorders.

The comorbidity of cardiovascular diseases (CVDs) and mental disorders (MD) has become a significant challenge in modern medicine, severely affecting patients' quality of life and prognosis. The heart-brain axis, a bidirectional pathway connecting the central nervous system and the cardiovascular system, plays a critical role in the comorbidity mechanisms of CVDs and MD. In recent years, brain-derived neurotrophic factor (BDNF) has emerged as a key molecule in the study of CVDs and MD. By binding with high affinity to TrkB receptors and activating various signaling pathways, BDNF exerts multiple functions in both the nervous and cardiovascular systems. BDNF may participate in the pathogenesis of CVDs combined with MD through multiple mechanisms such as regulating inflammatory responses, oxidative stress (OS), and the hypothalamic-pituitary-adrenal (HPA) axis, making it a promising new target for future diagnosis and treatment. This review systematically summarizes the mechanisms by which BDNF functions in heart-brain comorbidity, particularly its multifaceted influence on inflammation, OS, and neuroendocrine regulation. Additionally, we discuss the clinical application prospects of BDNF in disease diagnosis and treatment, as well as progress in related drug development. A deeper understanding of BDNF's role in the heart-brain axis will provide new insights and strategies for the prevention, diagnosis, and treatment of CVDs and MD.

CCR5 + T cells as a potential biomarker for primary Sjögren's disease based on bioinformatics analysis.

To identify and verify potential biomarkers for primary Sjögren's disease (pSjD) using bioinformatics analysis and explore the molecular immune mechanisms of biomarkers.male-to-female ratio of 1:9 METHODS: The pSjD datasets were downloaded from the Gene Expression Omnibus (GEO) database. Differential expression analysis, weighted gene co-expression network analysis (WGCNA) and functional analysis were conducted. PPI network analysis was performed and the hub genes were screened by Cytoscape software. The diagnostic value was assessed by receiver operating characteristic (ROC) analysis. To explore biomarker-immune cell relations, we used CIBERSORT for cell-type identification, combined with scRNA-seq data. Lastly, we validated the expression of the biomarker in human samples. A total of 96 overlapping genes, including 1 downregulated and 95 upregulated genes, were obtained. Based on the enrichment analysis, these overlapping genes were mapped to terms related to the functions and regulation of the immune system. CCR5 was identified as a critical biomarker and demonstrated high diagnostic accuracy for pSjD. From CIBERSORT analysis, CCR5 was significantly associated with diverse immune cells. Further scRNA-seq analysis indicated that CCR5 was specifically upregulated in T cells of pSjD salivary gland tissues, which was confirmed in pSjD patients. Our findings show the role of CCR5 in pSjD, mediated by immune mechanisms. CCR5 is localized in T cells of pSjD salivary glands. Elevated CCR5 expression may be a key biomarker, and increased CCR5 + T cells could aid future diagnosis, prognosis, and treatment of pSjD.

Common Diagnoses from Surgical Biopsies and Investigation of Leporipoxvirus in Pet Rabbits (Oryctolagus cuniculi) in Taiwan.

This study investigated common diagnoses from surgical biopsies of domestic rabbits (Oryctolagus cuniculi) in Taiwan and examined the role of leporipoxvirus in tumor pathogenesis. Biopsy specimens from 70 rabbits collected between 2014 and 2023 were retrospectively analyzed, yielding 85 diagnoses. Polymerase chain reaction (PCR) was performed to detect leporipoxvirus in formalin-fixed, paraffin-embedded tissues diagnosed with fibroma, fibrosarcoma, or myxosarcoma. The most commonly affected systems were the integumentary (n = 41) and reproductive (n = 36) systems. Common integumentary tumors included fibrosarcomas (n = 12), trichoblastomas (n = 8), mammary gland tumors (n = 5), and fibromas (n = 4). In the reproductive system, the most common lesions were uterine adenocarcinomas (n = 16), uterine endometrial cystic hyperplasia and hypertrophy (n = 5), and uterine adenomyosis (n = 4). The 15 cases of fibroma, fibrosarcoma, and myxosarcoma were tested for leporipoxvirus using PCR. No viral sequences were detected in these tumors. This study identified the common diagnoses from rabbit biopsy specimens and found no leporipoxvirus infection in samples of fibrosarcoma and fibroma. This is the first study on tumors in pet rabbit biopsies and the first in Taiwan to investigate leporipoxvirus infection, providing valuable insights for future diagnosis and management.

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

Abstract 5399: Placental gene PEG10 promotes onco-fetal metabolic reprogramming in hepatocellular carcinoma

Abstract Tumorigenesis is a complex biological process, accompanied by cellular dedifferentiation and metabolic reprogramming, which similarities to the metabolic characteristics of embryonic development stages. In our research, we focused particularly on the RNA-binding protein PEG10, which is highly expressed in the placenta and found to be similarly overexpressed in liver cancer cells, playing a key role in the process of aerobic glycolysis in tumor cells. This discovery suggests that there may be a phenomenon of fetal-like metabolic reprogramming in hepatocellular carcinoma (HCC), which is of significant importance for understanding the pathogenesis of HCC and for seeking new therapeutic strategies. In hepatocellular carcinoma (HCC) cells, we found that PEG10 enhances the stability of mRNA for key glycolytic genes hexokinase2 (HK2) and Glucose transporter 1 (GLUT1) by inhibiting the STAU1-mediated RNA degradation pathway, thereby promoting aerobic glycolysis in tumor cells. This process not only promotes the proliferation of tumor cells but also reduces the sensitivity of tumor cells to sorafenib. Furthermore, we observed in clinical samples that high expression of PEG10 is closely associated with poor prognosis in HCC patients, further confirming the important role of PEG10 in the development of HCC. Our research also found that retinoic acid can effectively inhibit aerobic glycolysis in tumor cells by suppressing the transcriptional expression of PEG10, thereby inhibiting the growth of tumor cells. In animal models, mice with liver-specific PEG10 gene knockout showed significant resistance to oncogene-induced liver cancer occurrence and development, providing strong evidence for PEG10 as a therapeutic target. These findings not only reveal the biological link between PEG10 and onco-fetal metabolic reprogramming at the molecular level but also indicate from a clinical perspective that PEG10 may be a potential biomarker and therapeutic target for HCC. The high expression of PEG10 is associated with poor prognosis in HCC patients, and the inhibitory effect of retinoic acid on PEG10 expression provides a new strategy for the treatment of HCC. These results provide new ideas for the future diagnosis and treatment of HCC, especially in the development of targeted therapeutic drugs against PEG10, which has important application prospects. Our research has laid a solid foundation for a deeper understanding of the metabolic reprogramming mechanisms of HCC and the development of new therapeutic methods. Citation Format: Dong Yin, Xinyi Yao, Jingyuan Zhang, Yin Zhang, Jianyou Liao, Kaishun Hu, Jiehua He, Daning Lu. Placental gene PEG10 promotes onco-fetal metabolic reprogramming in hepatocellular carcinoma [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 5399.

Single-cell hdWGCNA reveals a novel diagnostic model and signature genes of macrophages associated with chronic obstructive pulmonary disease.

Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory system-related mortality worldwide. Although COPD is associated with immune regulation, its underlying mechanisms remain unclear. Cells from the single-cell RNA sequencing (scRNA-seq) datasets were subjected to clustering analysis and cell type identification to isolate immune cell subgroups specifically expressed in COPD. High-dimensional weighted gene co-expression network analysis (hdWGCNA) was used to identify hub genes related to the immune cell subpopulations. Machine learning algorithms were applied to identify diagnostic genes in the immune cell subpopulations and construct clinical diagnostic models for COPD. In bulk RNA sequencing data, AUC curves were used to assess the stability of the diagnostic models in predicting COPD. Through 2 rounds of clustering analysis, the macrophage subgroups 1, 2, 7, 11, and 13 which specifically expressed in COPD (COPD_Mφ) were identified. HdWGCNA analysis revealed a hub set of genes closely related to COPD_Mφ from black, blue, yellow, and brown modules. Nonnegative Matrix Factorization (NMF) analysis separated the COPD samples into 2 clusters, with significant increases in the infiltration of Monocytic_lineage, Myeloid_dendritic_cells, and Neutrophils in cluster 1 (P < 0.001). Univariate logistic regression and LASSO regression analyses identified 11 feature genes associated with COPD_Mφ, including CST3, LGALS3, CSTB, S100A10, CYBA, S100A11, ARPC3, FTH1, PFN1, MAN2B1, and RPL39. The RF and convolutional neural network (CNN) models constructed using these feature genes effectively distinguished between normal and COPD patients. Among them, S100A10, RPL39, and FTH1 exhibited differential expression between COPD patients and normal individuals and could serve as potential clinical diagnostic markers for COPD. The study provides new insights into the immune mechanisms of COPD and lays the theoretical foundation for its future clinical diagnosis and personalized treatment.

Differences in the Fecal Metabolome of Autoimmune Pancreatitis Patients.

Chronic pancreatitis is a risk factor for pancreatic cancer. Autoimmune pancreatitis is a unique form of chronic pancreatitis that is primarily characterized by its immune mediate etiology, clinically resembling pancreatic cancer, yet uniquely responsive to steroid treatment. Early and accurate diagnosis of autoimmune pancreatitis is vital for effective treatment and patient prognosis, for which new diagnostic tools are urgently required. Gut microbiota dysbiosis has been identified to correlate with the development of pancreatic diseases, which provides new opportunities for the discovery of disease biomarkers. We utilized a mass spectrometric global metabolomics investigation of patient autoimmune pancreatitis and chronic pancreatitis fecal samples, investigating microbiome, dietary and human metabolism. We discovered a series of newly identified metabolic signatures between both patient groups including enterolactone, 4-guanidinobutanoic acid, and methylthioadenosine sulfoxide. Additionally, the analysis revealed significant differences in several metabolic pathways such as fatty acids, alkaloids, amino acids and peptides. Our observations provide novel insights into important metabolic human pathways and microbiome-derived metabolites to distinguish autoimmune pancreatitis from chronic pancreatitis. These findings reveal systemic metabolic responses and the identified metabolites may be developed into potential biomarkers for future diagnosis to distinguish between autoimmune pancreatitis and chronic pancreatitis.

Axillary Web Syndrome (AWS) in Absence of Breast Cancer History or Surgery: A Case Report

Background: Axillary web syndrome (AWS) is a complication of breast cancer surgery with axillary lymph node removal. Cords are found within 2 weeks post-surgery in the axillary area of the operated side, and many extend down the arm or into the lateral chest wall. The purpose of this report is to present a unique case of idiopathic AWS, and to increase awareness of non-cancer related AWS in the medical community. Case Description: A 39-year-old healthy female presented to physiotherapy with a 2-week history of a palpable tight cord in her left axilla without history of cancer or surgery. She sought emergency medical care without a definitive diagnosis. She performed an internet search and found that AWS matched her symptoms and she scheduled a physiotherapy appointment. Assessment and Treatment: The physiotherapist confirmed that symptoms matched AWS, due to a visible axillary cord and loss of shoulder range. Treatment lasted 5-weeks, consisting of AWS education, myofascial pin-and-stretch techniques, home stretching, and graduated strengthening. At discharge, full range had been restored. A slight cord was palpable at this time, though function was no longer affected. Two weeks later the patient reported complete cord resolution. Discussion: This individual responded well to physiotherapy interventions commonly used in AWS presentations and has had no recurrence at time of writing. Idiopathic AWS is likely more common than what is observed in the literature. AWS is generally under-recognized and would benefit from communication and collaboration between health professionals so people may find timely diagnosis and care in future.

Risk of Dementia in Individuals With Emergency Department Visits or Hospitalizations Due to Cannabis

Cannabis use is associated with short-term memory impairment and long-term changes in brain structure; however, little is known about whether disordered cannabis use is associated with an increased risk of a dementia diagnosis. To investigate the association between emergency department visits or hospitalizations (acute care encounters) due to cannabis and future dementia diagnosis. Population-based, retrospective, matched cohort study using health administrative data from Ontario, Canada, between 2008 and 2021 (with follow-up until 2022) including all individuals aged 45 to 105 years living in Ontario who were eligible and did not have a diagnosis of dementia at cohort entry (2 620 083 individuals excluded). Individuals with incident acute care due to cannabis use, defined using International Classification of Diseases and Related Health Problems, Tenth Revision coding. We used cause-specific adjusted hazard models to compare new diagnoses of dementia (from a validated algorithm) between individuals with acute care due to cannabis use with (1) individuals with all-cause acute care (excluding cannabis), (2) the general population, and (3) individuals with acute care due to alcohol use. The study included 6 086 794 individuals, of whom 16 275 (0.3%) had incident acute care due to cannabis use (mean age, 55.2 [SD, 8.3] years; 60.3% male). Annual rates of incident acute care due to cannabis use increased 5.0-fold in individuals aged 45 to 64 years (from 10.16 to 50.65 per 100 000) and 26.7-fold in individuals aged 65 years or older (from 0.65 to 16.99 per 100 000) between 2008 and 2021. Individuals with incident acute care due to cannabis use were at a 1.5-fold and 3.9-fold increased risk of dementia diagnosis within 5 years relative to individuals with all-cause acute care and the general population of the same age and sex, respectively (absolute rates of dementia diagnosis: 5.0% for cannabis-related acute care, 3.6% for all-cause acute care, and 1.3% in the general population). After adjustment for sociodemographics and chronic health conditions, individuals with acute care due to cannabis use remained at elevated risk relative to those with all-cause acute care (adjusted hazard ratio [aHR], 1.23; 95% CI, 1.09-1.39) and the general population (aHR, 1.72; 95% CI, 1.38-2.15). Individuals with acute care due to cannabis use were at lower risk than those with acute care due to alcohol use (aHR, 0.69; 95% CI, 0.62-0.76). Individuals with cannabis use severe enough to require hospital-based care were at increased risk of a new dementia diagnosis compared with those with all-cause hospital-based care or the general population. These findings have important implications considering increasing cannabis use among older adults.

MRI-based radiomics to determine the role of thigh muscle quality in the development of knee osteoarthritis: A discovery and validation study.

MRI-based radiomics to determine the role of thigh muscle quality in the development of knee osteoarthritis: A discovery and validation study.

Preclinical Protein Signatures of Crohn's Disease and Ulcerative Colitis: A Nested Case-Control Study Within Large Population-Based Cohorts.

Biomarkers are needed to identify individuals at elevated risk of inflammatory bowel disease. This study aimed to identify protein signatures predictive of inflammatory bowel disease. Using large population-based cohorts (n ≥180,000), blood samples were obtained from individuals who later in life were diagnosed with inflammatory bowel disease and compared with age and sex-matched controls, free from inflammatory bowel disease during follow-up. A total of 178 proteins were measured on Olink platforms. We used machine-learning methods to identify protein signatures of preclinical disease in the discovery cohort (n= 312). Their performance was validated in an external preclinical cohort (n= 222) and assessed in an inception cohort (n= 144) and a preclinical twin cohort (n= 102). In the discovery cohort, a signature of 29 proteins differentiated preclinical Crohn's disease (CD) cases from controls, with an area under the curve (AUC) of 0.85. Its performance was confirmed in the preclinical validation (AUC= 0.87) and the inception cohort (AUC= 1.0). In preclinical samples, downregulated (but not upregulated) proteins related to gut barrier integrity and macrophage functionality correlated with time to diagnosis of CD. The preclinical ulcerative colitis signature had a significant, albeit lower, predictive ability in the discovery (AUC= 0.77), validation (AUC= 0.67), and inception cohorts (AUC= 0.95). The preclinical signature for CD demonstrated an AUC of 0.89 when comparing twins with preclinical CD with matched external healthy twins, but its predictive ability was lower (AUC= 0.58; P= .04) when comparing them with their healthy twin siblings, that is, when accounting for genetic and shared environmental factors. We identified protein signatures for predicting a future diagnosis of CD and ulcerative colitis, validated across independent cohorts. In the context of CD, the signature offers potential for early prediction.

An Alternative Approach to Future Diagnosis: Can Generalized Anxiety Disorder Be Distinguished From Major Depressive Disorder, Healthy People by Differentially Expressed lncRNAs in Peripheral Blood.

Symptomatic diagnosis combined with unclear pathological mechanism and diverse etiology may increase misdiagnosis risk for generalized anxiety disorder (GAD) in the clinical setting. This study aimed to confirm the diagnostic value of aberrantly expressed long non-coding RNAs (lncRNAs) for GAD. Eighty sex- and age-matched patients with GAD and major depressive disorder (MDD) and healthy controls (HCs) were enrolled using a convenient sampling method. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to verify lncRNA expression levels in all participants, and a receiver operating characteristic (ROC) curve was used to test the accuracy of aberrantly expressed lncRNAs in differentiating health conditions. ΔCt values of ENST00000505825, NONHSAG017299, NONHSAT078768, NONHSAT029028, NONHSAT101077, NONHSAT031726, TCONS_l2_00010607 in GAD patients were less than in HCs (P<0.05 or 0.01). The total severity score of HAMA-14 and somatic anxiety scores were negatively correlated with ΔCt values of ENST00000505825, NONHSAG017299, NONHSAT078768, NONHSAT029028, NONHSAT101077, NONHSAT031726, ENST00000505825, TCONS_l2_00010607, and NONHSAT131696, and psychic anxiety scores were negatively associated with the ΔCt value of ENST00000505825 (P<0.05 or 0.01). The AUC of the combined ROC curve between patients with GAD and healthy people was 0.810, with sensitivity and specificity of 0.825 and 0.762, respectively (P<0.05 or 0.01). The AUC of the combined ROC curve between patients with GAD and MDD patients was 0.938, with sensitivity and specificity of 0.850 and 0.900, respectively (P<0.05 or 0.01). ENST00000505825, NONHSAG017299, NONHSAT078768, NONHSAT029028, NONHSAT101077, NONHSAT031726, TCONS_l2_00010607, which may serve as biomarkers for the GAD diagnosis and differentiation between GAD and MDD, can improve the diagnostic accuracy and avoid misdiagnosis to a certain extent. It is also beneficial for personalized treatment of GAD.

Brain metastases lung adenocarcinoma patients with BRG1 loss have a grim prognosis, featuring unique morphological and methylation characteristics

BRG1 deficiency in patients with lung adenocarcinoma that has metastasized to the brain, termed BRG1-deficient brain metastasis lung adenocarcinoma, is an uncommon event. Prior to this study, these patients had not undergone extensive molecular and (epi)genetic analysis. We report a comprehensive clinical, histopathologic, and molecular assessment of 9 BRG1-deficient brain metastasis lung adenocarcinoma cohort (BRG1-deficient BM cohort) in comparison with a 16 BRG1-retained brain metastasis lung adenocarcinoma cohort (BRG1-retained BM cohort). Patients with BRG1-deficient BM exhibited a significantly increased risk of mortality. Molecular analysis revealed a high prevalence of mutations in SMARCA4 and TP53 genes within this group. DNA methylation molecular diagnostics showed a high rate of genomic instability and a markedly lower DNA methylation age in these patients. Functional enrichment analysis of differentially methylated genes suggested that hypomethylation genes were primarily associated with the negative regulation of neuron differentiation, G protein-coupled receptor signaling pathways, and cell differentiation. Conversely, hypermethylation was linked to the regulation of small GTPase mediated signal transduction, Rho protein signal transduction, DNA damage response, and apoptotic processes. This study investigated a rare subgroup of lung adenocarcinoma patients with brain metastasis characterized by BRG1 deficiency and a poor prognosis. Our study not only provides a comprehensive multi-omic data resource but also provides valuable biological insights into patients. The findings may serve as a valuable reference for the future pathological diagnosis of BRG1-deficient brain metastasis in lung adenocarcinoma patients.

Evaluation of optic nerve with ultrasound elastography in patients with idiopathic intracranial hypertension: a case-control study.

Evaluation of optic nerve with ultrasound elastography in patients with idiopathic intracranial hypertension: a case-control study.

Bibliometric analysis of Crohn's disease in children, 2014-2024.

In recent years, the incidence of Crohn's disease has risen significantly in the pediatric population, and its prolongation has had a major impact on children's physical and mental health as well as on the quality of life of their families, and has therefore received extensive attention from scholars around the world. A large number of articles have been published on Crohn's disease in children; however, there is still a lack of studies that use visualization methods for bibliometric analysis of relevant literature. The purpose of this paper is to statistically analyze the published literature in the field of Crohn's disease in children in order to help in the future diagnosis and treatment of Crohn's disease in children. Literature meeting the inclusion criteria was screened from the Web of Science Core Collection database. Literature was visualized and analyzed by author, country, institution, journal, reference, and keyword using Citespace (6.2.R4) and VOSviewer (1.6.18). A total of 3,177 eligible publications were included. There is an overall increasing trend in the number of annual publications.Turner, Dan published the most number of articles with 78 and has a high impact in the field of CD. The most cited author was Levine, A. Among countries and institutions, the United States and Tel Aviv University had the highest number of publications. The journal with the most publications is Journal Of Pediatric Gastroenterology And Nutrition. The most co-cited journal was Inflammatory Bowel Diseases. The most cited document was ESPGHAN Revised Porto Criteria for the Diagnosis of Inflammatory Bowel Disease in Children and Adolescents, and the most cited document with the highest outbreak intensity was The Medical Management of Paediatric Crohn's Disease: an ECCO-ESPGHAN Guideline Update.The most frequent keyword was "inflammatory bowel disease". This study provides a visual summary of information for the field of pediatric Crohn's disease and contributes to international collaboration to promote research in the field of pediatric Crohn's disease.