Open Medicine最新文献

{"title":"Recurrent opportunistic infections in a HIV-negative patient with combined C6 and <i>NFKB1</i> mutations: A case report, pedigree analysis, and literature review.","authors":"Yamei Zheng, Liwen Guan, Jiao Li, Yihui Fu","doi":"10.1515/med-2024-1019","DOIUrl":"10.1515/med-2024-1019","url":null,"abstract":"<p><strong>Introduction: </strong>Recurrent opportunistic infections are particularly common in patients infected with human immunodeficiency virus (HIV). However, these opportunistic infections have also been reported in HIV-negative patients, especially those with primary immunodeficiency disorder (PID), a condition that involves a large heterogeneous group of disorders arising from defects in immune system development and/or function.</p><p><strong>Case: </strong>Here, we report a very rare case of recurrent opportunistic infections in a non-HIV-infected patient combined with mutations in complement component C6 and nuclear factor kB subunit 1 (<i>NFKB1</i>). The patient first developed <i>Pneumocystis jirovecii</i> pneumonia, followed by cytomegalovirus esophagitis. Reduced CD4+ T and B lymphocyte counts, hypogammaglobulinemia were observed. The patient was HIV negative, and congenital immunodeficiency-related genes indicated combined C6 and <i>NFKB1</i> mutations. Gene detection was undertaken with blood samples from the patient's parents and younger brother. None of the family members possessed both gene mutations, suggesting that the simultaneous mutations of C6 and <i>NFKB1</i> caused primary immunodeficiency in the patient and resulted in recurrent opportunistic infections. In addition, we performed a review of the relevant literature to assess the clinical manifestations of C6 and <i>NFKB1</i> mutations.</p><p><strong>Conclusion: </strong>A diagnosis of PID should be suspected in patients with recurrent opportunistic infections, decreased CD4+ T and B lymphocyte, and hypoimmunoglobulinemia when secondary immunodeficiency factors can be excluded. In addition, genetic testing of family members should be performed, which may lead to the discovery of novel familial gene mutations.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241019"},"PeriodicalIF":1.7,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of signatures associated with microsatellite instability and immune characteristics to predict the prognostic risk of colon cancer.","authors":"Sihan Bo, Yong You, Yongwei Wang, Yan Zhang, Bing Bai, Tao Jiang, Yaxian Gao","doi":"10.1515/med-2024-1056","DOIUrl":"10.1515/med-2024-1056","url":null,"abstract":"<p><strong>Background: </strong>Microsatellite instability (MSI) significantly impacts treatment response and outcomes in colon cancer; however, its underlying molecular mechanisms remain unclear. This study aimed to identify prognostic biomarkers by comparing MSI and microsatellite stability (MSS).</p><p><strong>Methods: </strong>Data from the GSE39582 dataset downloaded from the Gene Expression Omnibus database were analyzed for differentially expressed genes (DEGs) and immune cell infiltration between MSI and MSS. Then, weighted gene co-expression network analysis (WGCNA) was utilized to identify the key modules, and the modules related to immune infiltration phenotypes were considered as the immune-related gene modules, followed by enrichment analysis of immune-related module genes. Prognostic signatures were derived using Cox regression, and their correlation with immune features and clinical features was assessed, followed by a nomogram construction.</p><p><strong>Results: </strong>A total of 857 DEGs and 14 differential immune cell infiltration between MSI and MSS were obtained. Then, WGCNA identified two immune-related modules comprising 356 genes, namely MEturquoise and MEbrown. Eight signature genes were identified, namely <i>PLK2</i>, <i>VSIG4</i>, <i>LY75</i>, <i>GZMB</i>, <i>GAS1</i>, <i>LIPG</i>, <i>ANG</i>, and <i>AMACR</i>, followed by prognostic model construction. Both training and validation cohorts revealed that these eight signature genes have prognostic value, and the prognostic model showed superior predictive performance for colon cancer prognosis and distinguished the clinical characteristics of colon cancer patients. Notably, <i>VSIG4</i> among the signature genes correlated significantly with immune infiltration, human leukocyte antigen expression, and immune pathway enrichment. Finally, the constructed nomogram model could significantly predict the prognosis of colorectal cancer.</p><p><strong>Conclusion: </strong>This study identifies eight prognostic signature genes associated with MSI and immune infiltration in colon cancer, suggesting their potential for predicting prognostic risk.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241056"},"PeriodicalIF":1.7,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single-cell analysis identified key macrophage subpopulations associated with atherosclerosis.","authors":"Zhenzhen Zhao, Yuelong Qin, Rui Wu, Wenwu Li, Yujiang Dong","doi":"10.1515/med-2024-1088","DOIUrl":"10.1515/med-2024-1088","url":null,"abstract":"<p><strong>Background: </strong>Atherosclerosis is a lipid-driven inflammatory disease characterized by plaque formation in major arteries. These plaques contain lipid-rich macrophages that accumulate through monocyte recruitment, local macrophage differentiation, and proliferation.</p><p><strong>Objective: </strong>We identify the macrophage subsets that are closely related to atherosclerosis and reveal the key pathways in the progression of atherosclerotic disease.</p><p><strong>Materials and methods: </strong>In this study, we characterize the single-cell landscape of atherosclerosis, identifying macrophage subsets closely related to the disease and revealing key pathways in its progression. Using analytical methods like CytoTRACE, Monocle2, Slingshot, and CellChat, we study macrophage differentiation and infer cell trajectory.</p><p><strong>Results: </strong>The 8,417 macrophages were divided into six subtypes, macrophages: C0 C1QC+ macrophages, C1 SPP1+ macrophages, C2 FCN1+ macrophages, C3 IGKC+ macrophages, C4 FCER1A+ macrophages, C5CALD1+ macrophages. The results of gene set enrichment analysis, Monocle2, and Slingshot suggest that C2 FCN1+ macrophages may play an important role in the progression of atherosclerosis. C2 FCN1+ macrophages interact with endothelial cells via CCL, CXCL, APP, and other pathways to regulate the progression of atherosclerosis.</p><p><strong>Conclusion: </strong>We identify a key macrophage subgroup (C2 FCN1+ macrophages) associated with atherosclerosis, which interacts with endothelial cells via CCL, CXCL, APP, and other pathways to regulate disease progression.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241088"},"PeriodicalIF":1.7,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rhein promotes skin wound healing by activating the PI3K/AKT signaling pathway.","authors":"Dong Yang, Wei Li, Ping Xiang, Tingrui Ge, Huazhuan Li, Yonggang Zhang","doi":"10.1515/med-2024-1116","DOIUrl":"10.1515/med-2024-1116","url":null,"abstract":"<p><p>Rhein is a natural anthraquinone substance extracted from <i>Rheum palmatum</i> L. This study aimed to evaluate Rhein's protective effects against skin wound by <i>in vivo</i> and <i>in vitro</i> models and investigate whether its protective mechanism regulated the PI3K/AKT signaling pathway. The skin wound mice model was established and then treated with Rhein for 10 days. Hematoxylin and eosin staining and Masson's trichrome staining were applied to assess histological changes and collagen maturity in the mice skin wound tissues. Human skin fibroblasts (HSFs) viability, migration, and invasion were detected by Cell counting kit-8 (CCK-8), scratch wound, and transwell assays respectively. Moreover, the protein expression of p-PI3K, PI3K, p-AKT, and AKT were determined by western blot assay. We found that local treatment with Rhein promoted skin wound healing and accelerated collagen maturation, compared with the Model group. In addition, Rhein promoted skin wound healing through accelerated HSF proliferation, migration, and invasion. Furthermore, Rhein remarkably enhanced p-PI3K and p-AKT expression, as well as p-PI3K/PI3K and p-AKT/AKT ratio in skin wound mice and HSF cells, suggesting that Rhein promoted skin wound healing by activating PI3K/AKT signaling pathway. In conclusion, Rhein is a promising agent for promoting wound healing of skin tissues.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241116"},"PeriodicalIF":1.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Frankincense: A neuronutrient to approach Parkinson's disease treatment\".","authors":"Vittorio Calabrese, Naomi Osakabe, Foziya Khan, Uwe Wenzel, Sergio Modafferi, Lidia Nicolosi, Tilman Fritsch, Ursula M Jacob, Ali S Abdelhameed, Luay Rashan","doi":"10.1515/med-2024-2001","DOIUrl":"https://doi.org/10.1515/med-2024-2001","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1515/med-2024-0988.].</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20242001"},"PeriodicalIF":1.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Investigating hormesis, aging, and neurodegeneration: From bench to clinics\".","authors":"Vittorio Calabrese, Uwe Wenzel, Tommaso Piccoli, Ursula M Jacob, Lidia Nicolosi, Giovanni Fazzolari, Gabriella Failla, Tilman Fritsch, Naomi Osakabe, Edward J Calabrese","doi":"10.1515/med-2024-2000","DOIUrl":"https://doi.org/10.1515/med-2024-2000","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1515/med-2024-0986.].</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20242000"},"PeriodicalIF":1.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of serum FOXM1 and IGF2 in patients with ARDS and their correlation with disease and prognosis.","authors":"Chao Liu, Shengrui Zhang, Weiwei Zhang, Jinfeng Wang","doi":"10.1515/med-2024-1093","DOIUrl":"10.1515/med-2024-1093","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the relationship between the expression levels of serum forkhead box protein M1(FOXM1) and insulin-like growth factor 2 (IGF2) mRNA in patients with acute respiratory distress syndrome (ARDS) condition and prognosis.</p><p><strong>Methods: </strong>Ninety patients with ARDS admitted to our hospital were regarded as the ARDS group, according to the prognosis, they were grouped into death group (<i>n</i> = 64) and survival group (<i>n</i> = 126); the control group consisted of 190 healthy individuals.</p><p><strong>Results: </strong>Compared with the control group, the level of serum FOXM1 mRNA in ARDS group was obviously lower, and the level of IGF2 mRNA was higher. The serum IGF2 mRNA, serum creatinine, inhaled oxygen concentration (FiO₂), and mechanical ventilation time in the death group were higher than those in the control group, and the arterial oxygen partial pressure (PaO₂), FOXM1 mRNA, and oxygenation index (PaO₂/FiO₂) were lower than those in control group. Logistic regression analysis indicated that FOXM1, IGF2, and PaO₂/FiO₂ were significant factors influencing the prognosis and mortality in ARDS patients. Correlation analysis showed that there was a negative correlation between serum FOXM1 and IGF2 mRNA levels in patients with ARDS.</p><p><strong>Conclusion: </strong>Serum FOXM1 and IGF2 mRNA in patients with ARDS are correlated with the severity and prognosis of ARDS.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241093"},"PeriodicalIF":1.7,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The potential risk factors of postoperative cognitive dysfunction for endovascular therapy in acute ischemic stroke with general anesthesia.","authors":"Yangning Zhou, Yan Wang, Limin Xu","doi":"10.1515/med-2024-1085","DOIUrl":"10.1515/med-2024-1085","url":null,"abstract":"<p><strong>Background: </strong>Postoperative cognitive dysfunction (POCD) frequently occurs following endovascular therapy for acute ischemic stroke (AIS). Given the complexity of predicting AIS clinically, there is a pressing need to develop a preemptive prediction model and investigate the impact of anesthesia depth on AIS.</p><p><strong>Methods: </strong>A total of 333 patients diagnosed with AIS were included in the study, comprising individuals with non-POCD (<i>n</i> = 232) or POCD (<i>n</i> = 101). Univariate and multivariate logistic regression analyses were utilized to examine the independent risk factors associated with POCD. A calibration, decision curve analysis, and precision-recall curves were employed to assess the model's goodness of fit.</p><p><strong>Results: </strong>Multivariate regression analysis identified two inflammatory indicators, high-sensitivity C reactive protein (hs-CRP) and systemic immune inflammatory index (SII), and three brain injury indicators, National Institute of Health Stroke Scale (NIHSS) score, N-terminal pro-brain natriuretic peptide (NT-proBNP), and soluble protein-100 β (S100-β), which were used to construct a nomogram model.</p><p><strong>Conclusion: </strong>The composite predictive model incorporating NIHSS score, hs-CRP, SII, NT-proBNP, and S100-β demonstrated efficacy in predicting POCD following AIS. Additionally, our results suggest a potential association between depth of anesthesia, cognitive impairment, and inflammatory response in AIS patients.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241085"},"PeriodicalIF":1.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fluoxetine inhibited RANKL-induced osteoclastic differentiation <i>in vitro</i>.","authors":"Jing-Wen Zhang, Fang-Bing Zhao, Bing'er Ma, Xiao-Qing Shen, Yuan-Ming Geng","doi":"10.1515/med-2024-1094","DOIUrl":"10.1515/med-2024-1094","url":null,"abstract":"<p><p>Selective serotonin reuptake inhibitor correlates with decreased bone mineral density and impedes orthodontic tooth movement. The present study aimed to examine the effects of fluoxetine on osteoclast differentiation and function. Human peripheral blood mononuclear cells (hPBMCs) and murine RAW264.7 cells were cultured with RANKL to stimulate osteoclast differentiation. The resulting multinucleated cells displayed characteristics of mature osteoclasts. Fluoxetine at 0.01-1 μM did not impact cellular viability or oxidative stress. However, 10 μM fluoxetine significantly reduced clonal growth, cell viability, and increased cytotoxicity and lipid peroxidation in RAW 264.7 cells. Further, application of 0.1 μM fluoxetine potently suppressed osteoclast differentiation of both RAW264.7 and hPBMCs, with reduced osteoclast numbers and downregulation of osteoclastic genes matrix metalloproteinase-9, cathepsin K, and integrin β3 at mRNA and protein levels. Fluoxetine also disrupted F-actin ring formation essential for osteoclast resorptive function. Mechanistically, fluoxetine inhibited NF-kB signaling by reducing phosphorylation of pathway members IκBα and p65, preventing IκBα degradation and blocking p65 nuclear translocation. In conclusion, this study demonstrates fluoxetine suppressing osteoclast differentiation in association with disrupting NF-kB activation, providing insight into orthodontic treatment planning for patients taking fluoxetine.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241094"},"PeriodicalIF":1.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carboplatin combined with arsenic trioxide versus carboplatin combined with docetaxel treatment for LACC: A randomized, open-label, phase II clinical study.","authors":"Sijin Li, Yawen Zhang, Haiying Li, Zeyang He, An Li, Jiao Yan, Daocheng Li","doi":"10.1515/med-2024-1106","DOIUrl":"10.1515/med-2024-1106","url":null,"abstract":"<p><strong>Purpose: </strong>This study compared the efficacy and safety of carboplatin combined with arsenic trioxide versus carboplatin combined with docetaxel in treating locally advanced cervical cancer (LACC).</p><p><strong>Methods: </strong>A total of 48 patients were enrolled between January 2019 and December 2022 and randomly assigned to the experimental group (carboplatin + arsenic trioxide, <i>n</i> = 24) or control group (carboplatin + docetaxel, <i>n</i> = 24). The clinical efficacy, adverse reactions, and serological markers were analyzed.</p><p><strong>Results: </strong>There was no significant difference in baseline characteristics or total effective rates between the two groups (72.22% vs 68.42%, <i>P</i> > 0.05). Both groups showed significant reductions in serum squamous cell carcinoma antigen levels after chemotherapy (<i>P</i> < 0.05), but no significant difference was observed between groups (6.00 ± 11.36 ng/mL vs 8.42 ± 12.17 ng/mL, <i>P</i> > 0.05). Additionally, there was no significant difference in the incidence of adverse reactions (<i>P</i> > 0.05).</p><p><strong>Conclusion: </strong>Arsenic trioxide combined with carboplatin as a preoperative neoadjuvant chemotherapy for LACC is not worse than docetaxel combined with carboplatin in terms of short-term efficacy and safety during the treatment of LACC.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20241106"},"PeriodicalIF":1.7,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11635763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}