Annals of medicine最新文献

{"title":"Modified 'Xingnao Kaiqiao' acupuncture technique shortens the recovery time of comatose patients.","authors":"Dan Meng, Liangfeng Wang, Shengqiang Cheng, Pan Cai","doi":"10.1080/07853890.2025.2453095","DOIUrl":"10.1080/07853890.2025.2453095","url":null,"abstract":"<p><strong>Background: </strong>This study was conducted to analyse the therapeutic effect of the modified 'Xingnao Kaiqiao' acupuncture technique in the recovery of comatose patients, as well as the clinical factors that may influence recovery from coma.</p><p><strong>Methods: </strong>Diagnostic and therapeutic data from 166 patients in a coma due to neurological diseases were retrospectively collected. Eighty-seven comatose patients received conventional treatment, and 79 patients received conventional treatment + the modified 'Xingnao Kaiqiao' acupuncture technique. The recovery outcomes and times of the two groups were then compared. A Cox regression analysis was then performed to assess the impact of acupuncture treatment on recovery time in recovered and non-recovered groups.</p><p><strong>Results: </strong>The acupuncture group exhibited a shorter total duration of coma and treatment duration (<i>p</i> < 0.05). When considering recovery as an outcome variable, acupuncture treatment (hazard ratio (<i>HR</i>) = 1.658), pre-treatment Glasgow Coma Scale (GCS) score (<i>HR</i> = 1.188), and post-treatment GCS score (<i>HR</i> = 1.519) were associated with favorable patient recovery time (<i>HR</i> > 1).</p><p><strong>Conclusion: </strong>Acupuncture can effectively shorten the duration of coma and promote recovery time in patients. Therefore, it is recommended to initiate acupuncture treatment early when applicable.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2453095"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors for hepatocellular carcinoma: an umbrella review of systematic review and meta-analysis.","authors":"Jie Wang, Kaijie Qiu, Songsheng Zhou, Yichao Gan, Keting Jiang, Donghuan Wang, Haibiao Wang","doi":"10.1080/07853890.2025.2455539","DOIUrl":"10.1080/07853890.2025.2455539","url":null,"abstract":"<p><strong>Background: </strong>Numerous meta-analyses have identified various risk factors for hepatocellular carcinoma (HCC), prompting a comprehensive study to synthesize evidence quality and strength.</p><p><strong>Methods: </strong>This umbrella review of meta-analyses was conducted throughout PubMed, EMBASE, Web of Science, and Cochrane Database of Systematic Reviews. Evidence strength was evaluated according to the evidence categories criteria.</p><p><strong>Results: </strong>We identified 101 risk factors throughout 175 meta-analyses. 31 risk factors were classified as evidence levels of class I, II, or III. HBV and HCV infections increase HCC risk by 12.5-fold and 11.2-fold, respectively. These risks are moderated by antiviral treatments and virological responses but are exacerbated by higher HBsAg levels, anti-HBc positivity, and co-infection. Smoking, obesity, non-alcoholic fatty liver disease, diabetes, low platelet, elevated liver enzymes and liver fluke infection increase HCC risk, while coffee consumption, a healthy diet, and bariatric surgery lower it. Medications like metformin, glucagon-like peptide-1 receptor agonists (GLP-1 RAs), aspirin, statins, and selective serotonin reuptake inhibitors reduce HCC risk, while acid suppressive agents, particularly proton pump inhibitors, elevate it. Blood type O reduces the risk of HCC, while male gender and older age increase the risk.</p><p><strong>Conclusions: </strong>HBV and HCV are major HCC risk factors, with risk mitigation through antiviral treatments. Lifestyle habits such as smoking and alcohol use significantly increase HCC risk, highlighting the importance of cessation. Certain drugs like aspirin, statins, GLP-1 RAs, and metformin may reduce HCC occurrence, but further research is needed to confirm these effects.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2455539"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11753015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of multicohort-based predictive signature for NMIBC recurrence reveals SDCBP as a novel oncogene in bladder cancer.","authors":"Chen Zhang, Hubin Yin, Tinghao Li, Junrui Chen, Weiyang He, Ke Ren, Bo Li, Xudong Liu","doi":"10.1080/07853890.2025.2458211","DOIUrl":"10.1080/07853890.2025.2458211","url":null,"abstract":"<p><strong>Background: </strong>Despite surgical and intravesical chemotherapy interventions, non-muscle invasive bladder cancer (NMIBC) poses a high risk of recurrence, which significantly impacts patient survival. Traditional clinical characteristics alone are inadequate for accurately assessing the risk of NMIBC recurrence, necessitating the development of novel predictive tools.</p><p><strong>Methods: </strong>We analyzed microarray data of NMIBC samples obtained from the ArrayExpress and GEO databases. LASSO regression was utilized to develop the predictive signature. We combined gene signature and clinicopathological factors to construct a clinical nomogram for estimating NMIBC recurrence in a local cohort. Finally. the biological functions and potential mechanisms of SDCBP in bladder cancer were investigated experimentally <i>in vitro</i> and <i>in vivo</i>.</p><p><strong>Results: </strong>An 8-gene signature was developed, and its efficiency for predicting NMIBC recurrence was evaluated using Kaplan-Meier and time-dependent ROC curves in both training and validation datasets. Immunohistochemical testing revealed elevated levels of ACTN4 and SDCBP in recurrent NMIBC tissues. We integrated the two proteins with clinical factors to develop a nomogram model, which showed superior accuracy compared to individual parameters. Gene Set Variation Analysis and Gene Set Enrichment Analysis unveiled SDCBP exerted cancer-promoting biological processes, such as angiogenesis, EMT, metastasis and proliferation. Experimental procedures demonstrated that silencing SDCBP attenuated cell growth, glucose metabolism and extracellular acidification rate, accompanied by decreased expression of p-AKT, p-ERK1/2, LDHA and Vimentin.</p><p><strong>Conclusions: </strong>The established 8-gene signature holds promise as a tool for predicting NMIBC recurrence, while targeting SDCBP may represent a potential strategy for delaying disease relapse.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2458211"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11776064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A scoping review of healthcare effectiveness data and information set (HEDIS) substance use disorder measures.","authors":"Oliver Ethan Goal, Isca Amanda, Cameron Adams, Maria Adela Grando","doi":"10.1080/07853890.2024.2447413","DOIUrl":"10.1080/07853890.2024.2447413","url":null,"abstract":"<p><strong>Introduction:: </strong>There is a need to assess the delivery of interventions to improve substance use disorder (SUD) treatment, as measured by the Healthcare Effectiveness Data and Information Set (HEDIS®) metrics. The goal was to characterize published articles reporting HEDIS® SUD measures and recommend future work on applying and investigating SUD HEDIS® metrics and their effect on SUD treatments.</p><p><strong>Materials and methods: </strong>The PRISMA-ScR scoping review protocol was used to find published work and investigate the most common reported baseline characteristics, HEDIS® metric outcomes, and knowledge gaps. Peer-reviewed papers available through PubMed, Academic Search Premier, Elsevier/ScienceDirect, and Medline were searched up to August 14, 2022.</p><p><strong>Results:: </strong>Twenty-eight articles were included after removing 92 duplications. Twenty-five articles were retrospective cohort studies, two were RCTs, and there was a mixed-method study. SUD metrics were studied in diverse settings, including ED, primary care, mental health care, and SUD specialty care. Twenty-seven papers utilized the Initiation and Engagement of Substance Use Disorder Treatment (IET) measure, and 13 had similar data sources, study populations, and authors. Eight papers presented IET results by substance used, primarily alcohol, cannabis, and opioids.</p><p><strong>Conclusions:: </strong>More research is needed on the HEDIS® SUD metrics and their usefulness in informing SUD prevention and treatment, policy, and public health outcomes.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2447413"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combination of reverse shock index and simplified motor score as a strong discriminator of trauma outcomes.","authors":"Meng-Yu Wu, Giou-Teng Yiang, Ding-Kuo Chien, Sy-Jou Chen, Chi-Ming Chu, Jui-Yuan Chung, Hon-Ping Ma, Mau-Roung Lin","doi":"10.1080/07853890.2025.2458205","DOIUrl":"10.1080/07853890.2025.2458205","url":null,"abstract":"<p><strong>Background: </strong>The reverse shock index multiplied by simplified motor score (rSI-sMS) is a novel and rapid measure for assessing injury severity in patients with trauma in prehospital settings; however, its discriminant ability requires further validation.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted from trauma database of Taipei Tzu Chi Hospital to compare the accuracy of the rSI-sMS with that of the shock index, modified shock index, reverse shock index multiplied by the Glasgow Coma Scale (rSI-GCS), and the reverse shock index multiplied by GCS motor subscale (rSI-GCSM) for discriminating in-hospital mortality, intensive care unit (ICU) admissions, prolonged ICU stays ≥14 days, and prolonged hospital stays ≥30 days in patients with trauma.</p><p><strong>Results: </strong>A total of 11,760 patients from the trauma database were included. rSI-sMS had significantly better accuracy in discriminating in-hospital mortality, ICU admissions, prolonged ICU stays (≥14 days), and prolonged hospital stays (≥30 days) than the shock index, modified shock index, and rSI-GCSM, whereas its accuracy was similar to that of the rSI-GCS. Furthermore, rSI-sMS had better accuracy for discriminating clinical outcomes in patients with an injury severity score (ISS) ≥16, motor vehicle collisions, falls, no chronic disease, and cardiovascular disease as well as in geriatric and nongeriatric patients. In patients with mixed and isolated brain injuries, rSI-sMS accurately discriminated the four clinical outcomes, similar to rSI-GCS. The optimal cutoff value of rSI-sMS had a discriminant ability of 85.0, 78.6, 75.2, and 81.0% for in-hospital mortality, ICU admissions, ICU stay ≥14 days, and hospital stays of ≥30 days, respectively.</p><p><strong>Conclusions: </strong>Compared with the shock index, modified shock index, and rSI-GCSM, rSI-sMS is a more accurate field triage scoring system for discriminating in-hospital mortality, ICU admissions, prolonged ICU stay, and prolonged hospital stays in patients with trauma.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2458205"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and validation of an integrated model for the diagnosis of liver cirrhosis with portal vein thrombosis combined with endoscopic characters and blood biochemistry data: a retrospective propensity score matching (PSM) cohort study.","authors":"Jie Yang, Xu Zhang, Jia Chen, Xianghong Hou, Minghong Shi, Longlong Yin, Longchun Hua, Cheng Wang, Xiaolong Han, Shuyan Zhao, Guolan Kang, Ping Mai, Rui Jiang, Hongwei Tian","doi":"10.1080/07853890.2025.2457521","DOIUrl":"10.1080/07853890.2025.2457521","url":null,"abstract":"<p><strong>Background: </strong>Liver cirrhosis complicated by portal vein thrombosis (PVT) is a fatal complication with no specific manifestations but often misdiagnosed, it crucially increases the mortality worldwide. This study aimed to identify risk factors and establish a predictive model for diagnosis of venous thrombosis clinical by routine blood tests and endoscopic characteristics.</p><p><strong>Methods: </strong>Patients from Gansu Provincial Hospital from October 2019 to December 2023 were enrolled. The retrospective modelling cohort was screened by propensity score matching (PSM) at a 1:1 ratio from the baseline characteristics before endoscopic diagnosis. Variables were collected from blood test and endoscopic signs using machine learning method (ML). Logistic regression determined risk factors. The predictive performance was evaluated by receiver operation curve (ROC), calibration curve, clinical decision analysis (DCA) and influence curve (CIC). Furthermore, external cohort was used for validation, an online nomogram was established.</p><p><strong>Results: </strong>A total of 1,058 patients were enrolled, and 470 patients were included after PSM 1: 1. The model identified 7 factors, including splenectomy, blood urea nitrogen (BUN), serum sodium, activated partial thromboplastin time (APTT), thrombin time (TT), D-dimer, and degree of oesophageal varices. The area under the curve (AUC) was 0.907 (95% CI, 0.877-0.931). The calibration curve, decision and clinical impact curves showed the model demonstrated a good predictive accuracy and clinical benefits. The validation got an AUC of 0.890 (95% CI, 0.831-0.934), A nomogram tool was finally established for application.</p><p><strong>Conclusion: </strong>Blood test combined endoscopic characters could preliminarily predict the liver cirrhosis with portal vein thrombosis for cirrhotic patients undergoing endoscopic examination.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2457521"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in PD-1 expression on T lymphocyte subsets and related immune indicators before and after definitive chemoradiotherapy for esophageal squamous cell carcinoma.","authors":"Xueling Shi, Hongyu Zhao, Jiaqi Yu, Peng Cai, Shixiang Zhou, Ning Yang, Duojie Li","doi":"10.1080/07853890.2024.2445190","DOIUrl":"https://doi.org/10.1080/07853890.2024.2445190","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to observe the dynamic changes in the expression of T lymphocytes, natural killer (NK) cells, and PD-1 in patients with first-diagnosed esophageal squamous cell carcinoma (ESCC) before and after chemoradiotherapy (CRT) and evaluate the impact of PD-1 expression in peripheral blood on the short-term outcome of patients with ESCC.</p><p><strong>Patients and methods: </strong>Seventy-three patients with ESCC who were treated with definitive CRT were enrolled. Before and after CRT, flow cytometry was used to detect thePD-1 expression in the peripheral blood and related immune indicators. Peripheral blood from 10 healthy individuals was used as control.</p><p><strong>Results: </strong>The percentages of CD3⁺ (<i>p</i> = 0.018), CD4⁺ (<i>p</i> < 0.001), and CD8⁺ T cells (<i>p</i> < 0.001); NK cells (<i>p</i> = 0.009); and the CD4⁺/CD8⁺ ratio (<i>p</i> < 0.001), as well as PD-1⁺CD3⁺ (<i>p</i> < 0.001), PD-1⁺CD4⁺ (<i>p</i> < 0.001), and PD-1⁺CD8⁺ (<i>p</i> < 0.001) T cells, before CRT significantly differed from those in the post-CRT group. The percentages of PD-1⁺CD8⁺ T cells differed significantly between the radiotherapy alone and CRT groups (<i>p</i> < 0.05). PD-1 expression in CD3⁺, CD4⁺, and CD8⁺ T cells significantly decreased in patients achieving overall response rate (all <i>p</i> < 0.05). Compared with those in the incomplete response group, PD-1⁺CD8⁺ T cells significantly decreased in the CR group (<i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>CRT aggravated immunosuppression and increased PD-1 expression in T lymphocyte subsets in patients with ESCC, possibly related to the radiation field. PD-1 expression in T lymphocyte subsets can predict short-term outcomes in patients and provide a theoretical basis for the sequential application of PD-1 immunosuppressants after radiotherapy and chemotherapy.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2445190"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physical activity in professional training of physiotherapists.","authors":"Karel Frömel, Jan Dygrýn, Michal Vorlíček, Lukáš Jakubec, Dorota Groffik, David Smékal, Josef Mitáš","doi":"10.1080/07853890.2024.2446687","DOIUrl":"https://doi.org/10.1080/07853890.2024.2446687","url":null,"abstract":"<p><strong>Background: </strong>The current negative trend in the physical behavior and lifestyle of the population therefore requires adequate changes in the professional training of physiotherapists.</p><p><strong>Objectives: </strong>This study aimed to determine the structure and differences in the weekly physical activity (PA) of Czech physiotherapy students, the use of wearables in physiotherapy professional training, and the attitude of physiotherapy students toward PA and the use of wearables in physiotherapy practice.</p><p><strong>Methods: </strong>Between 2013 and 2022, 412 physiotherapy students participated in a PA-monitoring study using questonnaires International Physical Activity Questionnaire-long form, Motives for Physical Activity Measure-Revise, pedometers, Garmin Vívofit and Axivity AX3 accelerometers.</p><p><strong>Results: </strong>A retrospective analysis of physiotherapy students PA drew attention to insufficient weekly PA and insufficient achievement of the PA recommendation of at least 60 min five times a week (55% of men and 41% of women). Instrumental PA monitoring allowed analyzing individual daily PA and structure of weekly PA. Highest PA indicated men (14,102 steps/day) and women (12,724 steps/day) of the 1st study year on Tuesday. The lowest PA (9,488 steps/day for men and 8,815 steps/day for women), were observed in the 4th study year on Sundays. The recommended target of 11,000 steps per day was achieved by 40% of the men and 46% of the women. Wearables enhanced participants PA motivation (51%).</p><p><strong>Conclusions: </strong>The inclusion of weekly PA monitoring in the professional training of physiotherapists ensured a deeper insight into the possibilities of PA monitoring in physiotherapy practice . Students are prepared to use wearables more widely to improve physical therapy practice.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2446687"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Zellweger syndrome; identification of mutations in <i>PEX19</i> and <i>PEX26</i> gene in Saudi families.","authors":"Abdulfatah M Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A Hashmi, Azizah Alharbi, Sulman Basit","doi":"10.1080/07853890.2024.2447400","DOIUrl":"10.1080/07853890.2024.2447400","url":null,"abstract":"<p><strong>Background: </strong>Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts. PBDs are associated with mutations in any of fourteen different <i>PEX</i> genes, which are involved in peroxisome biogenesis. Zellweger spectrum disorder (ZSD) is a severe form of PBD. More than 90% of the ZSD cases have mutations in <i>PEX1</i>, <i>PEX6</i>, <i>PEX10</i>, <i>PEX12</i>, and <i>PEX26</i>. Mutations in the PEX19 gene are rarely associated with PBD/ZSD; however, a large proportion of <i>PEX26</i> mutations are associated with ZSD.</p><p><strong>Methods: </strong>We recruited two Saudi families with multiple affected individuals with dysmorphic features, including hypertelorism, large open fontanelles, generalized hypotonia, and epicanthal folds with poor reflexes since birth. Whole exome sequencing (WES) and Sanger sequencing was performed to identify the genetic cause. The frequency and pathogenicity of the identified mutations were assessed using various online bioinformatics tools.</p><p><strong>Results: </strong>WES identified a novel nonsense variant (c.367C > T) in the <i>PEX19</i> gene in family A patients. This nonsense mutation was predicted to cause premature termination (p.Gln123*). A previously reported synonymous variant (c.228C > T; p.Gly76Gly) in <i>PEX26</i> was found in a patient from family B. Both variants were segregating in an autosomal recessive manner in the respective families.</p><p><strong>Conclusion: </strong>The present study has added a novel nonsense mutation to the mutation spectrum of <i>PEX19</i>, which is the second null mutation identified to date. Moreover, in this study, the importance of a synonymous exonic variant of <i>PEX26</i> close to the splice donor site was explored in relation to pre-mRNA splicing and resulting disease manifestations.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2447400"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newly identified single-nucleotide polymorphism associated with the transition from nonalcoholic fatty liver disease to liver fibrosis: results from a nested case-control study in the UK biobank.","authors":"Yitong Ling, Yu Xuan Yang, Yan Chun Chen, Jing Hao Wang, Dong Ge Feng, Shi Jian Xiang, Xiaoyu Zhang, Jun Lyu, Sha Sha Li","doi":"10.1080/07853890.2025.2458201","DOIUrl":"10.1080/07853890.2025.2458201","url":null,"abstract":"<p><strong>Background: </strong>Genetic factors may have a significant influence on the likelihood of liver fibrosis in individuals with nonalcoholic fatty liver disease (NAFLD). The present study was conducted to explore how single-nucleotide polymorphism (SNP) impacts the development of fibrosis in those suffering from NAFLD.</p><p><strong>Materials and methods: </strong>Utilizing the UK Biobank dataset, we conducted a nested case-control analysis among NAFLD participants, defining the case group as those with liver fibrosis and cirrhosis during follow-up. For our <i>in vitro</i> investigations, we employed the LX-2 human hepatic stellate cell line. Our procedures included cultivating these cells, employing SAMM50-rs2073080 plasmid techniques to enhance the expression of recently discovered SNPs, and conducting biochemical assays. To quantify gene expression, we used real-time PCR with fluorescence detection.</p><p><strong>Results: </strong>The study analyzed data from 5467 participants (1094 cases and 4373 controls). Genome-wide association analysis identified nine significant loci, including the novel rs2073080 variant, strongly associated with NAFLD-associated hepatic fibrosis. <i>In vitro</i> TGF-β modeling revealed significant upregulation of α-SMA and COL1A1, confirming model effectiveness. Oxidative stress markers like elevated malondialdehyde (MDA) and reduced catalase (CAT) and superoxide dismutase (SOD) levels indicated liver damage in the TGF-β group. SAMM50-rs2073080 was upregulated in the NAFLD-associated fibrosis model. <i>In vitro</i> experiments on LX-2 cells showed that SAMM50-rs2073080 overexpression led to increased fibrosis, as indicated by higher cellular MDA levels and lower CAT and SOD levels, compared to the vector group.</p><p><strong>Conclusion: </strong>Our research highlights a significant association of SAMM50-rs2073080 with the progression of NAFLD to hepatic fibrosis, and the <i>in vitro</i> experiments further corroborated these findings.</p>","PeriodicalId":93874,"journal":{"name":"Annals of medicine","volume":"57 1","pages":"2458201"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}