Hereditas最新文献

筛选
英文 中文
Identification of components in scorpion and centipede traditional Chinese medicine formulations with potentially beneficial actions in asthma: network pharmacology and molecular docking. 对哮喘有潜在有益作用的蝎子和蜈蚣中药制剂成分的鉴定:网络药理学和分子对接。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-02 DOI: 10.1186/s41065-025-00490-9
Yi-Ren Chen, Ya-Da Zhang, Wei Zhang, Bin-Qing Tang
{"title":"Identification of components in scorpion and centipede traditional Chinese medicine formulations with potentially beneficial actions in asthma: network pharmacology and molecular docking.","authors":"Yi-Ren Chen, Ya-Da Zhang, Wei Zhang, Bin-Qing Tang","doi":"10.1186/s41065-025-00490-9","DOIUrl":"https://doi.org/10.1186/s41065-025-00490-9","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study is to identify the principal active components of scorpion and centipede-derived traditional Chinese medicine (TCM) ingredients using network pharmacology and explore their mechanisms of action in the treatment of asthma.</p><p><strong>Methods: </strong>The chemical constituents and target information pertaining to scorpion and centipede-derived TCM components were obtained from the Traditional Chinese Medicine System Pharmacology (TCMSP) database and an herbal database. Asthma-related target genes were retrieved from the GeneCards and the Online Mendelian Inheritance in Man (OMIM) databases. The \"component-target\" network was constructed with the identified target genes using \"Cytoscape 3.9.2\" software, and the protein-protein interaction (PPI) network was generated in conjunction with the String database to further identify the core targets. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis and gene ontology (GO) functional enrichment analysis were carried out on the targets associated with scorpion and centipede-derived TCM components. Molecular docking was subsequently performed using Autodock Vina software to validate the results. Asthma mouse model was established, and mouse lung tissues were collected for histopathological examination. The levels of TP53, HSP90AA1, and IL-17 mRNA in the mouse lung tissues were evaluated.</p><p><strong>Results: </strong>A total of 11 active components met the screening conditions, including 4 centipede-derived components and 7 scorpion-derived components. The key components identified included histamine, L-histidine, stearin, cholesteryl ferulate, and cholesterol, among others. Targets with degree values ≥ 16 included TP53, HSP90AA1, HSP90AB1, steroid receptor coactivator (SRC), epidermal growth factor receptor (EGFR), estrogen receptor 1 (ESR1), mitogen-activated protein kinase 1 (MAPK1), mitogen-activated protein kinase 3 (MAPK3), and histone deacetylase 1 (HDAC1). The pathways involved comprised calcium signaling, estrogen signaling, arachidonic acid metabolism, inflammatory mediator and transient receptor potential (TRP) signaling, vascular smooth muscle contraction, thyroid hormone signaling, sphingolipid signaling, IL-17 signaling, insulin resistance, and human cytomegalovirus infection pathways. Furthermore, the mouse experiments showed that SC improved inflammatory cell infiltration and mucus secretion in mouse lung tissues and significantly suppressed the expression of TP53, HSP90AA1, and IL-17 mRNA (all p < 0.05).</p><p><strong>Conclusion: </strong>Scorpion and centipede-derived active components may exert therapeutic effects in asthma treatment through potential targets such as TP53, HSP90AA1, HSP90AB1, SRC, EGFR, ESR1, MAPK1, MAPK3, and HDAC1.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"120"},"PeriodicalIF":2.7,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TIMP1 promotes microglia M2 polarization through MAPK pathway to ameliorate early brain injury after ischemia. TIMP1通过MAPK通路促进小胶质细胞M2极化,改善缺血后早期脑损伤。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-02 DOI: 10.1186/s41065-025-00491-8
Kangkang Zhao, Zizhao Huang
{"title":"TIMP1 promotes microglia M2 polarization through MAPK pathway to ameliorate early brain injury after ischemia.","authors":"Kangkang Zhao, Zizhao Huang","doi":"10.1186/s41065-025-00491-8","DOIUrl":"https://doi.org/10.1186/s41065-025-00491-8","url":null,"abstract":"<p><strong>Objective: </strong>To explore the molecular regulatory mechanisms and biomarkers in regulating early brain injury (EBI) and inflammatory response after ischemic stroke (IS).</p><p><strong>Methods: </strong>Gene expression profiles of GSE148350, GSE35338, and GSE58294 were analyzed to screen the core genes involved in EBI after IS. Middle cerebral artery occlusion and reperfusion (MCAO/R) model and oxygen and glucose deprivation and reoxygenation (OGD/R) model were used to construct in vivo and in vitro IS models. In MCAO/R model, the effects of tissue inhibitor of metalloproteinase-1 (TIMP1) were investigated by Zea longa score, brain water content assessment and histological analysis. In OGD/R model, after TIMP1 was overexpressed in BV2 cells, M1 and M2 polarization markers (iNOS and Arg-1) in BV2 cells were detected by Western blot, and the effects of BV2 on the viability and apoptosis of HT22 cells were evaluated by cell counting kit-8 and flow cytometry, respectively. Additionally, the effects of TIMP1 overexpression on MAPK pathway in BV2 cells were also detected by Western blot.</p><p><strong>Results: </strong>Two core genes, TIMP1 and vimentin (VIM) were screened from 254 differentially expressed genes in IS. TIMP1 was closely associated with the dysregulation of immune cell infiltration. TIMP1 overexpression significantly mitigated MCAO/R-induced neurological dysfunction, brain edema, neuronal apoptosis and inflammatory response in rats. In vitro, it was revealed that TIMP1 overexpression in BV2 cells increased viability and inhibited apoptosis of HT22 cells. In BV2 cells, TIMP1 overexpression promoted the expression of Agr-1 and inhibited the expression of iNOS. In addition, overexpression of TIMP1 inhibited OGD/R-induced increases in the phosphorylation levels of p38, JNK and ERK proteins in BV2 cells.</p><p><strong>Conclusion: </strong>This study identified a post-IS EBI regulator, TIMP1. TIMP1 promotes M2 polarization of microglia and ameliorate neurological injury after IS by inactivating MAPK signaling pathway.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"119"},"PeriodicalIF":2.7,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global research trends in the relationship between diabetic cardiomyopathy and mitochondria: a bibliometric analysis. 糖尿病性心肌病与线粒体关系的全球研究趋势:文献计量学分析。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-01 DOI: 10.1186/s41065-025-00488-3
Jiajie Li, Jinxing Liu, Yaping Wang, Heguo Yan, Qin Li, Weibo Wen
{"title":"Global research trends in the relationship between diabetic cardiomyopathy and mitochondria: a bibliometric analysis.","authors":"Jiajie Li, Jinxing Liu, Yaping Wang, Heguo Yan, Qin Li, Weibo Wen","doi":"10.1186/s41065-025-00488-3","DOIUrl":"10.1186/s41065-025-00488-3","url":null,"abstract":"<p><strong>Background: </strong>Diabetic Cardiomyopathy (DCM) is a distinct form of heart disease whose pathogenesis remains largely elusive. Recent studies have shed light on the significant role of mitochondria in the development of DCM, emphasizing their critical involvement. Despite these advancements, a bibliometric analysis focusing on the nexus between mitochondria and DCM has not been conducted, leaving a gap in a holistic understanding of research trends in this field.</p><p><strong>Methods: </strong>This study extracted publications addressing the role of mitochondria in DCM from the Web of Science Core Collection, spanning from 1988 to 2024. A detailed bibliometric analysis was undertaken using tools like CiteSpace, VOSviewer, Microsoft Excel, and Tableau Public to assess the data.</p><p><strong>Results: </strong>The analysis encompassed 440 publications involving 2705 researchers from 1457 institutions across 175 countries/regions. These studies were disseminated across 202 journals. China was the most prolific country with 192 publications, followed by the United States with 156, and Canada with 26. E. Dale Abel emerged as the most prolific author in this area. Key journals contributing to this research included the American Journal of Physiology-Heart and Circulatory Physiology and the Journal of Molecular and Cellular Cardiology. The future research direction is likely to focus deeper into the mechanisms of mitochondrial dysfunction in the diabetic heart and to identify molecular and cellular targets for therapeutic intervention.</p><p><strong>Conclusion: </strong>This report presents the first detailed bibliometric review of the intersection between mitochondrial research and DCM. It offers critical insights and guidance for researchers aiming to navigate and contribute to this evolving area of study.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"114"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trends and hotspots in autoimmune hepatitis research: based on bibliometric analysis. 自身免疫性肝炎研究的趋势与热点:基于文献计量学分析。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-01 DOI: 10.1186/s41065-025-00477-6
Ruisi Li, Yue Xu, XiaoYing Xu, YiHeng Xu, Haitang Huang, Xiaojuan Lv, Chu Liao, Junqiu Ye, Bo Liu, Hengfei Li
{"title":"Trends and hotspots in autoimmune hepatitis research: based on bibliometric analysis.","authors":"Ruisi Li, Yue Xu, XiaoYing Xu, YiHeng Xu, Haitang Huang, Xiaojuan Lv, Chu Liao, Junqiu Ye, Bo Liu, Hengfei Li","doi":"10.1186/s41065-025-00477-6","DOIUrl":"10.1186/s41065-025-00477-6","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune Hepatitis (AIH) is a chronic inflammatory liver disease characterized by a sustained inflammatory response in the liver, usually associated with abnormalities in the immune system.The purpose of this study was to utilize bibliometric analysis to assess the current state of research on AIH and to predict future research areas and emerging trends.</p><p><strong>Objective: </strong>In this study, we used bibliometric analysis to comprehensively analyze the literature on Autoimmune Hepatitis (AIH) published during the past two decades.</p><p><strong>Methods: </strong>Literature from 2003 to 2023 was retrieved from the Web of Science Core Collection, the world's leading citation indexing database. Visualization and analysis were performed using VOSviewer 1.6.18 and CiteSpace 6.2.R3 software.</p><p><strong>Results: </strong>The study covered 6,390 papers by 28,037 authors from 291 institutions in 110 countries. AIH research output grew significantly, peaking in 2023. The US was the top contributor, followed by China and Japan. Notable institutions included the University of London, Mayo Clinic, and King's College Hospital NHS Foundation Trust. AIH research spans medicine, healthcare, clinical sciences, molecular biology, immunology, etc. CONCLUSION: In this paper, we have used bibliometric analysis to systematically review and analyze the research literature on autoimmune hepatitis (AIH) over the past two decades. This comprehensive overview aims to provide scholars dedicated to this field with a clear research lineage and future research directions.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"115"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical significance and biological function of PRKCQ-AS1/miR-582-3p expression in LUAD. PRKCQ-AS1/miR-582-3p在LUAD中表达的临床意义及生物学功能
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-01 DOI: 10.1186/s41065-025-00482-9
Lingling Liu, Xiaofen Liu, Xiaojiao Wu, Hang Fang, Jingjing Shi, Wei Jiang
{"title":"Clinical significance and biological function of PRKCQ-AS1/miR-582-3p expression in LUAD.","authors":"Lingling Liu, Xiaofen Liu, Xiaojiao Wu, Hang Fang, Jingjing Shi, Wei Jiang","doi":"10.1186/s41065-025-00482-9","DOIUrl":"10.1186/s41065-025-00482-9","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical value and mechanism of action of long non-coding RNA PRKCQ-AS1 for lung adenocarcinoma (LUAD) progression.</p><p><strong>Methods: </strong>Clinical data of 128 LUAD patients were collected, postoperative pathological tissues were stored at -80 °C. Kaplan-Meier survival analysis was employed to investigate differences in 5-year survival rates across various expression groups, while Cox regression models assessed the prognostic factors influencing patient outcomes. Reverse transcription quantitative PCR (RT-qPCR) was utilized to measure the expression levels of PRKCQ-AS1 and miR-582-3p in pathological tissues and LUAD cell lines. Additionally, a dual-luciferase reporter assay validated the reciprocal relationship. CCK8 examined cell proliferation, Transwell observed cell migration and invasion.</p><p><strong>Results: </strong>PRKCQ-AS1 was down-regulated and miR-582-3p was up-regulated in LUAD tissues and cell. PRKCQ-AS1 and miR-582-3p expression affects some pathological features (lymph node metastasis, TNM stage, tumour differentiation) in LUAD patients. Patients with low PRKCQ-AS1 and high miR-582-3p had increased mortality. Interaction of PRKCQ-AS1 targeting miR-582-3p exists in LUAD cells. RGMB, STXBP6 are downstream target genes of miR-582-3p. Overexpression of (oe-) PRKCQ-AS1 inhibited LUAD cell proliferation, migration, and invasion. However, concomitant use of miR-582-3p mimics resisted the effects of PRKCQ-AS1 overexpression on cells.</p><p><strong>Conclusion: </strong>PRKCQ-AS1/miR-582-3p axis regulatory relationship exists in lung adenocarcinoma cells. PRKCQ-AS1 may regulate the proliferation, migration and invasion of lung adenocarcinoma cells and participate in LUAD regulation by targeting miR-582-3p.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"116"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of biomarkers associated with proliferation and differentiation of mesenchymal stem cells in pulmonary adenocarcinoma and establishment of prognostic models. 鉴定与肺腺癌间充质干细胞增殖和分化相关的生物标志物并建立预后模型。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-01 DOI: 10.1186/s41065-025-00492-7
Xin-Xin Zeng, Ke-Xin Xian, Jie-Lun Wen, Qi-Zhe Wang, Xin-Yu Wang, Li-Yue Sun
{"title":"Identification of biomarkers associated with proliferation and differentiation of mesenchymal stem cells in pulmonary adenocarcinoma and establishment of prognostic models.","authors":"Xin-Xin Zeng, Ke-Xin Xian, Jie-Lun Wen, Qi-Zhe Wang, Xin-Yu Wang, Li-Yue Sun","doi":"10.1186/s41065-025-00492-7","DOIUrl":"10.1186/s41065-025-00492-7","url":null,"abstract":"<p><strong>Background: </strong>Mesenchymal stem cells (MSCs) hold potential as therapeutic agents in cancer, but their mechanisms in lung adenocarcinoma (LUAD) remain poorly understood. This study aimed to identify biomarkers associated with MSC proliferation and differentiation (MSCPD) and investigate their regulatory roles in LUAD.</p><p><strong>Methods: </strong>Using the TCGA-LUAD and GSE72094 datasets, MSCPD-related gene (MSCPD-RG) scores were calculated, and samples were divided into high and low subgroups. Differentially expressed genes (DEGs1: between subgroups; DEGs2: tumor vs. normal) and module genes derived from weighted gene co-expression network analysis (WGCNA) were examined. Overlapping genes were subjected to Cox and LASSO regression to identify potential biomarkers. A prognostic risk model was developed and validated, followed by functional, immune, and drug sensitivity analyses.</p><p><strong>Results: </strong>Four biomarkers (MS4A2, IGSF10, NTRK3, MFAP3L) were identified from 1,061 DEGs1, 6,604 DEGs2, and 610 module genes. The risk model based on these biomarkers accurately stratified prognosis. Both T stage and risk score were independent prognostic factors, and a nomogram integrating these factors demonstrated high predictive accuracy. These biomarkers were notably enriched in pathways related to ribosome function, cell cycle regulation, and oxidative phosphorylation. Immune cell analysis revealed significant differences in nine immune cell types (e.g., plasma cells, CD4 memory T cells) between LUAD and normal tissues.</p><p><strong>Conclusion: </strong>In this study, four key biomarkers closely related to mesenchymal stem cell proliferation/differentiation (MSCPD) were identified in lung adenocarcinoma (LUAD), namely MS4A2, IGSF10, NTRK3, and MFAP3L. Through multi-omics integrated analysis and independent cohort validation, it was confirmed that these markers not only affect disease progression by regulating mesenchymal - epithelial transition (MET) and tumor microenvironment remodeling but can also effectively predict patient prognosis and response to immunotherapy.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"118"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12220362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global research trends and emerging focus areas in IgG4-related disease: a bibliometric and visual analysis. igg4相关疾病的全球研究趋势和新兴重点领域:文献计量学和视觉分析。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-07-01 DOI: 10.1186/s41065-025-00489-2
Ye Li, Zhen-Yu Huang, Ya-Yu Li
{"title":"Global research trends and emerging focus areas in IgG4-related disease: a bibliometric and visual analysis.","authors":"Ye Li, Zhen-Yu Huang, Ya-Yu Li","doi":"10.1186/s41065-025-00489-2","DOIUrl":"10.1186/s41065-025-00489-2","url":null,"abstract":"<p><strong>Background: </strong>Immunoglobulin G4-related disease (IgG4-RD) is a systemic autoimmune condition marked by fibroinflammatory infiltration, which may present as solitary or multiple masses and organ enlargement. In advanced stages, progression to multi-organ dysfunction or failure may occur, potentially resulting in mortality. This study aimed to examine the current status and evolving research trends in IgG4-RD from 2020 to 2024 through bibliometric and visualization methodologies.</p><p><strong>Method: </strong>A total of 1,084 English-language publications on IgG4-RD, dated from January 1, 2020, to October 22, 2024, were retrieved from the Web of Science Core Collection. Bibliometric and visual analyses were performed using VOSviewer and CiteSpace software to identify research trends, collaborative networks, and thematic developments.</p><p><strong>Results: </strong>The analysis included 1,084 publications, reflecting sustained research activity in the field over the examined period. The Chinese Academy of Medical Sciences & Peking Union Medical College accounted for the greatest number of publications. Among individual contributors, Wen Zhang was identified as the most prolific author. In terms of national output, China led in publication volume, whereas Japan exhibited the highest total citation frequency. Internal Medicine published the greatest number of articles, while Modern Rheumatology had the highest citation rate. Keyword co-occurrence analysis revealed prominent research themes, including \"IgG4-related disease,\" \"autoimmune pancreatitis,\" \"case report,\" \"Rituximab,\" and \"Diagnosis.\"</p><p><strong>Conclusion: </strong>The global research output on IgG4-RD has demonstrated notable growth in recent years. Further investigations focusing on the emerging thematic areas may yield valuable insights that can enhance clinical diagnosis and therapeutic approaches for individuals affected by IgG4-RD.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"117"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy. 处理皮肤粘膜静脉畸形的胃肠道受累:内镜硬化治疗的安全性和有效性。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-06-23 DOI: 10.1186/s41065-025-00486-5
Jiaxue Zhu, Wei Liu, Zehua Zhang, Bensong Duan, Xiaohan Yan
{"title":"Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy.","authors":"Jiaxue Zhu, Wei Liu, Zehua Zhang, Bensong Duan, Xiaohan Yan","doi":"10.1186/s41065-025-00486-5","DOIUrl":"10.1186/s41065-025-00486-5","url":null,"abstract":"<p><p>Blue rubber bleb nevus syndrome (BRBNS) and cutaneomucosal venous malformation (VMCM) both manifest as venous malformations (VMs) characterized by blue, compressible nodules. While BRBNS typically involves visceral organs, particularly the gastrointestinal (GI) tract, VMCM has conventionally been considered to spare internal organs. Our findings, however, reveal that VMCM can indeed extend to the GI system and demonstrate that endoscopic sclerotherapy is safe and effective for its management. This underscores the importance of genetic testing and systemic evaluation in patients with multifocal VMs, suggesting the need for revised diagnostic criteria and a more nuanced approach to classification of these disorders.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"113"},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12186395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early arteriovenous malformation mimicking pediatric capillary malformation: diagnostic value of infrared thermography. 早期动静脉畸形模拟儿童毛细血管畸形:红外热成像的诊断价值。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-06-23 DOI: 10.1186/s41065-025-00484-7
Hao Gu, Xiaojie Yue, Xiong Zhao, Qiang Shu
{"title":"Early arteriovenous malformation mimicking pediatric capillary malformation: diagnostic value of infrared thermography.","authors":"Hao Gu, Xiaojie Yue, Xiong Zhao, Qiang Shu","doi":"10.1186/s41065-025-00484-7","DOIUrl":"10.1186/s41065-025-00484-7","url":null,"abstract":"<p><p>Early-stage arteriovenous malformations (AVMs) and port-wine stains (PWS) exhibit overlapping clinical presentations, notably as flat, irregular erythema, posing significant diagnostic challenges. Conventional imaging techniques offer insufficient resolution for microvascular assessment during initial evaluation, and definitive diagnosis requires invasive tissue biopsy. We report a case of a 4-year-old boy initially misdiagnosed with facial PWS following ineffective photodynamic therapy. Digital images with quantitive readings acquired by infrared thermography (IRT) camera detected localized hyperthermia within the lesion, indicative of underlying hemodynamic anomalies. Skin biopsy of the lesion was performed and a somatic KARS mutation (p. Gln61His) was detected via targeted sequencing. Subsequent digital subtraction angiography confirmed the presence of micro-arteriovenous fistulas, thereby confirming the diagnosis of early AVM. This case illustrates the clinical utility of IRT in detecting subtle temperature variations associated with vascular pathophysiology. Integrating IRT into initial diagnostic algorithms may enhance the accuracy of differential diagnosis for vascular malformations, particularly early-stage AVMs.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"112"},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the potential mechanisms of m6A modification in septic acute respiratory distress syndrome: a bioinformatics analysis. 探讨m6A修饰在脓毒性急性呼吸窘迫综合征中的潜在机制:生物信息学分析。
IF 2.7 3区 生物学
Hereditas Pub Date : 2025-06-23 DOI: 10.1186/s41065-025-00480-x
Shaoyang Zhang, Qinghui Fu, Zhipeng Xu, Mingjie Fu, Jianfeng Zhao, Wenqiao Yu
{"title":"Exploring the potential mechanisms of m6A modification in septic acute respiratory distress syndrome: a bioinformatics analysis.","authors":"Shaoyang Zhang, Qinghui Fu, Zhipeng Xu, Mingjie Fu, Jianfeng Zhao, Wenqiao Yu","doi":"10.1186/s41065-025-00480-x","DOIUrl":"10.1186/s41065-025-00480-x","url":null,"abstract":"<p><strong>Background: </strong>Acute respiratory distress syndrome (ARDS) remains a leading cause of mortality in intensive care units. The N6-methyladenosine (m6A) mRNA modification is critical in various pathological conditions, yet its role in the ARDS microenvironment, particularly at the single-cell level, remains poorly understood.</p><p><strong>Methods: </strong>Single-cell and bulk RNA-sequencing datasets were sourced from the GEO databases. Bioinformatics and experimental approaches were employed to investigate the associations between m6A regulators and hub genes in ARDS.</p><p><strong>Results: </strong>WTAP, HNRNPA2B1, and HNRNPC exhibited extensive expression within the ARDS microenvironment. Consensus clustering analysis segregated patients with sepsis into distinct subgroups, with WTAP showing significant variation across these groups. Weighted gene co-expression network analysis (WGCNA) identified the brown module as most associated with WTAP, revealing five hub genes. Validation experiments confirmed high expression levels of WTAP and MYC in lung tissues. Functional assays further demonstrated that WTAP enhances ARDS progression.</p><p><strong>Conclusions: </strong>In conclusion, bioinformatics analysis and preliminary experimental data suggest that WTAP promotes ARDS onset and progression by regulating m6A methylation and facilitating immune cell infiltration.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"111"},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信