Medicine最新文献

{"title":"Portal vein thrombosis complicating neonatal umbilical vein catheterization in a 3-month-old infant with coincidental extrahepatic biliary atresia: A case report.","authors":"Mortada H F El-Shabrawi, Ayman Hussein Abdel Sattar, Fetouh Hassanin, Maha Fathy Sheba, Ahmed Elhennawy, Naglaa M Kamal, Mohammed A M Oshi, Ali Algarni, Seham Anwar Emam Marzouk","doi":"10.1097/MD.0000000000041238","DOIUrl":"10.1097/MD.0000000000041238","url":null,"abstract":"<p><strong>Rationale: </strong>Umbilical vein catheterization (UVC) is a common procedure in neonatal intensive care units (NICU) but carries risks of severe complications such as portal vein thrombosis (PVT). Extrahepatic biliary atresia (EHBA), a leading cause of neonatal cholestasis, often progresses to end-stage liver disease. This case report discusses the rare coexistence of PVT and EHBA in a 3-month-old infant, highlighting the critical need for timely diagnosis and intervention.</p><p><strong>Patient concerns: </strong>A 3-month-old female presented with jaundice, dark-colored urine, and clay-colored stools. She had a history of NICU admission for neonatal sepsis during which a UVC was inserted.</p><p><strong>Diagnoses: </strong>Physical examination revealed jaundice and hepatosplenomegaly. Abdominal ultrasonography identified hepatosplenomegaly, mild ascites, and portal cavernoma. A liver biopsy confirmed a diagnosis of EHBA.</p><p><strong>Interventions: </strong>The patient underwent Kasai portoenterostomy. Postoperatively, she developed complications including ascites, systemic hypertension, and hyperammonemia. Initial improvements were observed with decreased bilirubin levels.</p><p><strong>Outcomes: </strong>Despite initial stabilization, the patient's condition deteriorated, and she succumbed on day 15 postoperation.</p><p><strong>Lessons: </strong>This case underscores the significant risks of PVT associated with UVC and the importance of monitoring NICU graduates for early detection of complications. The early onset of portal hypertension and esophageal varices in this case challenges existing beliefs about EHBA's clinical progression. Greater awareness and routine follow-up imaging are essential to improve outcomes in similar scenarios.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41238"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070978","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":"Septic cardiomyopathy or myocardial infarction?: A case report of septic shock with ST-segment elevation on ECG.","authors":"Haolei Gao, Xiaodong Wang, Qingyue Yang","doi":"10.1097/MD.0000000000041454","DOIUrl":"10.1097/MD.0000000000041454","url":null,"abstract":"<p><strong>Rationale: </strong>Sepsis is one of the most prevalent and deadly diseases today. Sepsis involving the heart can progress to septic cardiomyopathy; however, there is a lack of uniform diagnostic criteria. A review of the literature reveals a paucity of literature on sepsis combined with acute myocardial infarction (AMI) and no reports on emergency surgical treatment.</p><p><strong>Patients concerns: </strong>A 52-year-old patient with trauma-induced sepsis leading to acute heart failure with elevated ST-segment on electrocardiogram and postoperative coronary angiography suggestive of AMI.</p><p><strong>Diagnoses: </strong>Small bowel rupture, infectious shock, AMI, hypertensive disease, old cerebral infarction.</p><p><strong>Interventions: </strong>The patient was admitted to the hospital and immediately underwent emergency surgery to remove the infected focus, with treatment with meropenem for anti-infection, ambroxol for sputum, parenteral nutritional support, sedation and analgesia, esmolol to control the ventricular rate, uradil to control blood pressure, and transfusion of red blood cells and plasma for correction of anemia and coagulation functions. Coronary angiography was performed 6 months later.</p><p><strong>Outcomes: </strong>The patient was discharged after showing signs of improvement and was subsequently monitored in an outpatient clinic setting. At the time of writing, the patient is still alive and well.</p><p><strong>Lessons: </strong>In cases of acute heart failure resulting from trauma-induced sepsis, it is crucial to consider myocardial ischemia as a potential factor. Early surgical removal of infected foci may prove beneficial in improving the patient's prognosis. However, differentiating between septic cardiomyopathy and sepsis-combined myocardial infarction can be challenging, and the appropriateness of the diagnostic criteria for sepsis at this stage is debatable.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41454"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070997","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":"Ultrasound-guided versus blind arthrocentesis in knee osteoarthritis: A systematic review and meta-analysis.","authors":"Xiaoyan Deng, Yamei Li, Daishun Li","doi":"10.1097/MD.0000000000041389","DOIUrl":"10.1097/MD.0000000000041389","url":null,"abstract":"<p><strong>Background: </strong>To summarize the current evidence about effectiveness and accuracy of using ultrasound-guided compared to blind arthrocentesis in the treatment of knee osteoarthritis.</p><p><strong>Methods: </strong>Web of Science, the Cochrane Central Register of Controlled Trials, EMBASE, Scopus, PubMed, ClinicalTrials.gov, Wangfang Database, and SinoMed were conducted from their inception to February 2024. Eligible studies included Randomized controlled trials (RCTs) and non-RCTs that compared the ultrasound-guided and blind arthrocentesis in knee osteoarthritis, with outcomes assessed base on pain, function, accuracy, and additional factors such as satisfaction, cost-effectiveness, fluid yield, and synovial membrane thickness.</p><p><strong>Results: </strong>Twenty-one studies that met the inclusion criteria (1924 patients) were identified. The results indicated that ultrasound-guided arthrocentesis was superior to blind arthrocentesis (10 trials; MD = -0.37; 95% CI = -0.55 to -0.19; P = .000). However, no significant difference was found in function improvement (7 trials; SMD = -0.60; 95% CI = -1.31 to 0.12; P = .101). Ultrasound-guided arthrocentesis also demonstrated better accuracy compared to blind arthrocentesis (RR = 1.26, 95% CI: 1.09-1.46, P = .001). For satisfaction, the result reported ultrasound was better than the blind group (MD = 1.11; 95% CI = 0.67-1.54; P = .000) at immediate post-procedure, and at the 4 to 6 weeks (MD = 0.98; 95% CI = 0.56-1.41; P = .000).</p><p><strong>Conclusion: </strong>In the comprehensive systematic review and meta-analysis of knee osteoarthritis, ultrasound-guided arthrocentesis is superior to anatomic landmark-guided arthrocentesis in terms of pain reduction and accuracy.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41389"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143071061","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":"Network pharmacology predicts targets and pathways of herbal components for the treatment of pneumonia: A review.","authors":"Dongxin Yang, Cuilian Chen, Qingshang Zhang, Jun Gong","doi":"10.1097/MD.0000000000041372","DOIUrl":"10.1097/MD.0000000000041372","url":null,"abstract":"<p><p>Pneumonia is a respiratory disease with high pathogenicity and mortality. Traditional Chinese medicine (TCM) is a natural therapy that has proven effectiveness and safety. Although TCM has been found to be effective in treating pneumonia, further research is needed to determine the specific mechanism of action. This paper presents a literature search conducted in PubMed, Web of Science, and China National Knowledge Infrastructure (CNKI) databases using the keywords \"pneumonia\" and \"network pharmacology.\" After screening, we retained the literature related to TCM. The study found that, according to network pharmacology prediction, 4 types of TCMs-natural active compounds, single herb medicine, Chinese patent medicines, and multi-component herbal formulations-were effective in treating pneumonia. TCM components demonstrated a multi-target and multi-pathway approach to treat the disease. The diversity of targets and signaling pathways not only facilitates the investigation of TCM's mechanism of action of TCM in pneumonia treatment but also offers novel insights and perspectives for innovative drug research and development.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41372"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070919","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":"Rare association of granulomatosis with polyangiitis with an underdiagnosed spondyloarthritis effectively treated with rituximab: A case-report.","authors":"Thomas Escoda, Aurélie Dehaene, Laetitia Velardocchio, Arnaud Deveze, Benjamin Terrier, Laurent Chiche","doi":"10.1097/MD.0000000000041366","DOIUrl":"10.1097/MD.0000000000041366","url":null,"abstract":"<p><strong>Rationale: </strong>Associations of autoimmune diseases are rare but interesting and challenging situations from a diagnostic, pathophysiological, and therapeutic point of view. This article studies a rare association of autoimmune diseases by discussing the pathophysiological hypotheses and an original therapeutic management. The coexistence of antineutrophil cytoplasmic antibody-associated vasculitis and spondyloarthritis has rarely been described.</p><p><strong>Patient concerns: </strong>We present a patient with inflammatory back pain, stiffness, and enthesopathies followed by pulmonary and ear, nose and throat granulomatous involvement.</p><p><strong>Diagnoses: </strong>A combination of spondyloarthritis and granulomatosis with polyangiitis, with spinal, enthesopathic, pulmonary, and ear, nose and throat involvement.</p><p><strong>Interventions and outcomes: </strong>Effective treatment with rituximab both on spondyloarthritis and vasculitis.</p><p><strong>Lessons: </strong>We discuss the pathogenic, diagnostic, and therapeutic implications of this rare but intriguing association between these 2 inflammatory conditions.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41366"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070986","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":"Role of the AKT signaling pathway in regulating tumor-associated macrophage polarization and in the tumor microenvironment: A review.","authors":"Changming Liang, Song Wang, Chengwei Wu, Jiawei Wang, Lishuai Xu, Senlin Wan, Xu Zhang, Yinfen Hou, Yabin Xia, Li Xu, Xiaoxu Huang, Hao Xie","doi":"10.1097/MD.0000000000041379","DOIUrl":"10.1097/MD.0000000000041379","url":null,"abstract":"<p><p>Tumor-associated macrophages (TAMs) are present in and are important components of the tumor microenvironment (TME). TAMs differentiate into 2 functionally distinct morphologies, classically activated (M1)-type TAMs and alternatively activated (M2)-type TAMs, when stimulated by different cytokines. The 2 types of TAMs exhibit distinct properties and functions. M1 TAMs secrete high levels of pro-inflammatory and chemotactic factors, exerting proinflammatory, antitumor effects. Conversely, M2 TAMs alter the extracellular matrix, facilitate cellular immune escape, and stimulate tumor angiogenesis, thereby promoting anti-inflammatory responses and tumor growth. The ratio of M1 TAMs to M2 TAMs in the TME is closely related to the prognosis of the tumor. Tumor cells and other cells in the TME can regulate the polarization of TAMs and thus promote tumor progression through the secretion of various substances; however, polarized TAMs can also act on various cells in the TME through the secretion of exosomes, thus forming a positive feedback loop. Therefore, modulating the phenotype of TAMs in the TME or blocking the polarization of M2 TAMs might be a new approach for cancer treatment. However, the intracellular signaling pathways involved in the polarization of TAMs are poorly understood. The AKT signaling pathway is an important signaling pathway involved in the polarization, growth, proliferation, recruitment, and apoptosis of TAMs, as well as the action of TAMs on other cells within the TME. This paper reviews the AKT signaling pathway in the polarization of TAMs and the regulation of the TME and provides new ideas for tumor immunotherapy.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41379"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070990","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":"Causal effects of circulating immune cells on coronary atherosclerosis: Evidence from Mendelian randomization.","authors":"Xinyu Yang, Yunfeng Yu, Gang Hu, Siyang Bai, Jingyi Wu, Chenlu Guo","doi":"10.1097/MD.0000000000041361","DOIUrl":"10.1097/MD.0000000000041361","url":null,"abstract":"<p><p>The role of circulating immune cells in coronary atherosclerosis remains unclear. This study aimed to assess the causal effects of various immune cells on coronary atherosclerosis using Mendelian randomization (MR). Circulating immune cell datasets were obtained from genome-wide association studies, and coronary atherosclerosis datasets were obtained from FinnGen. Single-nucleotide polymorphisms satisfying the assumptions of association, independence, and exclusivity were screened in the datasets and analyzed using MR, with inverse-variance weighted as the main method. Horizontal pleiotropy, heterogeneity, and sensitivity analyses were performed using the MR-Egger, Cochran Q, and leave-one-out analyses, respectively. The MR analysis showed that effector memory double negative (DN) (cluster of differentiation [CD]4-CD8-) %DN (odds ratio [OR]: 1.042, 95% confidence interval [CI]: 1.008-1.077, P = .014), CD4 on CD39+ CD4+ (OR: 1.027, 95% CI: 1.001-1.054, P = .040), C-X3-C motif chemokine receptor 1 on CD14+ CD16- monocytes (OR: 1.035, 95% CI: 1.010-1.060, P = .006), C-C chemokine receptor 7 on naive CD4+ (OR: 1.035, 95% CI: 1.006-1.076, P = .023), and immunoglobulin D- CD38- %lymphocytes (OR: 1.098, 95% CI: 1.016-1.187, P = .019) were associated with an increased genetic susceptibility to coronary atherosclerosis, with no horizontal pleiotropy (P ≥ .05). Cochran Q showed no heterogeneity (P ≥ .05), and the sensitivity analysis indicated that the results were robust. The MR analysis revealed various markers and immune cell subsets, including effector memory DN (CD4-CD8-) %DN, CD4 on CD39+ CD4+, C-X3-C motif chemokine receptor on CD14+ CD16- monocytes, C-C chemokine receptor 7 on naive CD4+, and IgD- CD38- %lymphocytes, associated with increased genetic susceptibility to coronary atherosclerosis. This provides a genetic explanation for the role of specific immune cells in inducing and exacerbating coronary artery disease and offers new ideas for the exploration of immune markers and immune-targeted drugs.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41361"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143071043","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":"Two case reports of rare Down's syndrome during in vitro fertilization and embryo transfer (IVF-ET).","authors":"Parisa Taherzadeh Boroujen, Mitra Nemati, Fatemeh Naderipour","doi":"10.1097/MD.0000000000037872","DOIUrl":"10.1097/MD.0000000000037872","url":null,"abstract":"<p><strong>Rationale: </strong>Despite the potential risks, assisted reproductive technology has provided hope and opportunities for individuals and couples struggling with infertility to conceive and have children. This study presents a case report that describes an occurrence where a pregnancy achieved through in vitro fertilization (IVF) and embryo transfer had to be ended because of the presence of trisomy 21 syndrome.</p><p><strong>Patient concerns: </strong>Two 26-year-old women who were diagnosed with primary infertility due to polycystic ovary syndrome manifested with overweight and hirsutism.</p><p><strong>Diagnosis: </strong>These 2 cases were regarded as a diagnosis of Down syndrome, which resulted in the decision to legally terminate the pregnancy when the mother was, in her 12th week and 4 days of gestation. Upon examining the makeup of the cells in the chorionic villi it was discovered that all cells had a chromosomal composition of 47, XX.</p><p><strong>Interventions: </strong>In these case reports, 2 26-year-old woman with polycystic ovary syndrome underwent assisted reproductive technology and IVF to conceive. The first IVF transfer was unsuccessful, but the second attempt resulted in a successful transfer in both cases. However, a positive screening for Down syndrome led to a legal abortion at 12 + 4 weeks gestation.</p><p><strong>Outcomes: </strong>Genetic counseling revealed no family history of genetic diseases, and the couple opted for IVF without preimplantation genetic testing. During the trimester of their pregnancies the expectant mothers were initially screened at 12 + 4 weeks after conception. Nuchal translucency examination showed thickening of the fluid at the back of the fetal neck. Moreover, there was an increase in the levels of pregnancy related plasma protein and β human chorionic gonadotropin.</p><p><strong>Lessons: </strong>These 2 cases underscore the significance of genetic counseling and prenatal screening for couples who are undergoing assisted reproductive technologies, with the purpose of detecting and effectively addressing any possible genetic abnormalities that may arise in their progeny.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e37872"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143071056","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":"Effect of weight loss following Roux-en-Y gastric bypass on cancer risk: A Mendelian randomization study.","authors":"Jiaming Xue, Shuai Chen, Yu Wang, Yuwen Jiao, Dongmei Wang, Jie Zhao, Yan Zhou, Liming Tang","doi":"10.1097/MD.0000000000041351","DOIUrl":"10.1097/MD.0000000000041351","url":null,"abstract":"<p><p>Cancer incidence and development are strongly correlated with obesity, however there is insufficient data to support a causal relationship between intentional weight loss and the prevention or promotion of cancer. We investigated the causal relationship between weight loss following Roux-en-Y gastric bypass (RYGB) and the incidence of 18 cancers using Mendelian randomization (MR). A genome-wide association studies (GWAS) data related to weight loss following RYGB from the GWAS catalog database were used as exposure, and GWAS data related to 18 cancers from the Medical Research Council integrative epidemiology unit open GWAS project were used as outcomes. In order to investigate the causal relationship between exposure and results, we used a two-sample MR approach. The primary analysis technique was inverse variance weighting, with weighted median, and MR-Egger regression utilized as supplemental techniques to confirm the findings. Heterogeneity and horizontal pleiotropy were investigated using a variety of sensitivity studies, including the Cochran Q test, MR-Egger regression pleiotropy test, MR pleiotropy residual sum and outlier, and leave-one-out analysis. We included a total of 4 single-nucleotide polymorphisms as instrumental variables through rigorous quality control screening. Under the limitations of Bonferroni correction threshold (P < 2.78 × 10-3), our results suggest that the weight loss following RYGB has a significant causal relationship with a reduced risk of breast (odds ratio [OR]: 0.784; 95% confidence interval [CI]: 0.762-0.808; P = 2.167e-58) and lung cancer (OR: 0.992; 95% CI: 0.987-0.997; P = .0023), and a potential causal relationship with a decreased risk of hematological cancer (OR: 0.9998462; 95% CI: 0.9997088-0.9999836; P = .028) and an increased risk of cervical cancer (OR: 1.000123; 95% CI: 1.0000313-1.000215; P = .009). Sensitivity analysis confirms the robustness of our analysis results. Genetically predicted weight loss following RYGB has significant causal effects in reducing the risk of breast and lung cancer. It also has potential benefits in lowering the risk of hemotological cancers and increasing the risk of cervical cancer. Considering the limitations of our study, the reliability of its results and the underlying mechanisms require further investigation.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41351"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143071057","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 DNA damage repair-related genes in sepsis using bioinformatics and machine learning: An observational study.","authors":"Jin Gu, Dong-Fang Wang, Jian-Ying Lou","doi":"10.1097/MD.0000000000041354","DOIUrl":"10.1097/MD.0000000000041354","url":null,"abstract":"<p><p>Sepsis is a life-threatening disease with a high mortality rate, for which the pathogenetic mechanism still unclear. DNA damage repair (DDR) is essential for maintaining genome integrity. This study aimed to explore the role of DDR-related genes in the development of sepsis and further investigated their molecular subtypes to enrich potential diagnostic biomarkers. Two Gene Expression Omnibus datasets (GSE65682 and GSE95233) were implemented to investigate the underlying role of DDR-related genes in sepsis. Three machine learning algorithms were utilized to identify the optimal feature genes. The diagnostic value of the selected genes was evaluated using the receiver operating characteristic curves. A nomogram was built to assess the diagnostic ability of the selected genes via \"rms\" package. Consensus clustering was subsequently performed to identify the molecular subtypes for sepsis. Furthermore, CIBERSORT was used to evaluate the immune cell infiltration of samples. Three different expressed DDR-related genes (GADD45A, HMGB2, and RPS27L) were identified as sepsis biomarkers. Receiver operating characteristic curves revealed that all 3 genes showed good diagnostic value. The nomogram including these 3 genes also exhibited good diagnostic efficiency. A notable difference in the immune microenvironment landscape was discovered between sepsis patients and healthy controls. Furthermore, all 3 genes were significantly associated with various immune cells. Our findings identify potential new diagnostic markers for sepsis that shed light on novel pathogenetic mechanism of sepsis and, therefore, may offer opportunities for potential intervention and treatment strategies.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 5","pages":"e41354"},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070782","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}