Archives of Medical Science最新文献

{"title":"LDL-cholesterol control in high-risk individuals: an international obstacle and call for earlier combination lipid-lowering therapy.","authors":"Alexander C Razavi, Mark Sokolsky, Roger S Blumenthal","doi":"10.5114/aoms/207067","DOIUrl":"10.5114/aoms/207067","url":null,"abstract":"","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"747-749"},"PeriodicalIF":3.3,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752147","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":"Exploring causal correlations between inflammatory response-related genes and osteoporosis: a Multi-Omics Mendelian Randomization Study.","authors":"Ripeng Zhang, Jie Zhao","doi":"10.5114/aoms/205243","DOIUrl":"10.5114/aoms/205243","url":null,"abstract":"<p><strong>Introduction: </strong>The relationship between the inflammatory response (IR) and osteoporosis (OP) has been the subject of extensive research; however, their genetic link remains unclear. This study used IR-related genes as instrumental variables (IVs) to represent IR, while summary data of OP served as the outcome to explore their genetic relationship.</p><p><strong>Material and methods: </strong>IR-related genes were retrieved from the GeneCards database. OP transcriptome datasets were collected from the Gene Expression Omnibus (GEO) database and meta-analyzed to identify differentially expressed genes (DEGs) related to IR in OP. Genetic proxy instruments for IR-related genes were derived from studies of corresponding gene expression (<i>n</i> = 31,684) and DNA methylation (<i>n</i> = 1,980) quantitative trait loci (eQTLs and mQTLs), respectively. Aggregated data for OP (1,351 OP cases and 209,313 controls) were extracted from the largest genome-wide association study (GWAS) of OP. We integrated QTL data with OP GWAS data to estimate their genetic associations using summary data-based Mendelian randomization analysis (SMR). Additionally, Bayesian colocalization analysis was employed to reveal the potential relationships between IR gene expression and inflammatory factors, as well as various hormones. Finally, to further validate whether the statistical evidence provided in GWAS comprised true-positive findings, a replication study (1,955 cases and 278,169 controls) was conducted here through genotype-phenotype associations.</p><p><strong>Results: </strong>A meta-analysis of four datasets identified 115 IR-related DEGs in OP out of 612 IR-related genes. Through SMR analysis, we found that the expression levels of two IR-related genes were associated with OP risk. Specifically, elevated gene expression levels of FAS (odds ratio (OR) = 1.094; 95% confidence interval (CI) = 0.892-1.341; false discovery rate (FDR) = 0.034) increased the risk of OP. Conversely, increased expression levels of CHUK decreased the risk of OP (OR = 0.518; 95% CI = 0.424-0.637; FDR = 0.039). Colocalization analysis identified potential interactions between the FAS gene and estradiol (PP.H4 = 0.95) as well as interleukin-1α (IL-1α) (PP.H4 = 0.65). Potential interactions were also observed between the CHUK gene and growth hormone (PP.H4 = 0.59) as well as macrophage inflammatory protein-1α (MIP-1α) (PP.H4 = 0.62). In addition, consistent results were observed in the replication study, further demonstrating the reliability of our findings.</p><p><strong>Conclusions: </strong>This multi-omics integration study revealed a genetic link between IR and OP, as represented by IR-related genes, and provided new insights into the potential pathogenic mechanisms of OP. Additionally, these identified candidate genes offer avenues for future targeted functional studies aimed at developing appropriate therapeutic interventions and preventing OP.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1332-1344"},"PeriodicalIF":3.3,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278880","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":"Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses.","authors":"Shiyu Sun, Caiyu Liu, Xinqiang Lan, Yi Tang","doi":"10.5114/aoms/205110","DOIUrl":"10.5114/aoms/205110","url":null,"abstract":"","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"1062-1068"},"PeriodicalIF":3.3,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752146","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":"Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.","authors":"Dominika Szczęśniak, Małgorzata Bednarska-Makaruk, Olga Drgas, Karolina Kowalczyk, Magdalena M Kacprzak, Paweł Aleksandrowicz, Lidia Kotuła, Magdalena Mroczek","doi":"10.5114/aoms/201448","DOIUrl":"10.5114/aoms/201448","url":null,"abstract":"<p><strong>Introduction: </strong>Biallelic pathogenic variants in the <i>LPL</i> gene are associated with familial lipoprotein lipase (LPL) deficiency. Homozygotes exhibit very severe hypertriglyceridemia (HTG) already in childhood, with phenotypic features such as pancreatitis, abdominal pain and xanthomata. Recent studies showed that HTG levels varied greatly between monoallelic <i>LPL</i> pathogenic/likely pathogenic variant carriers. The aim of our study was to investigate whether heterozygotes for pathogenic variants in the <i>LPL</i> gene in the Polish population may have clinical symptoms and, if so, to what extent.</p><p><strong>Material and methods: </strong>Genetic data were derived from a Polish cohort of 5623 whole exome sequenced patients. In 52 cases the indication for WES genetic testing was \"hypertriglyceridemia '' and for 5571 there was another clinical indication, mainly autism spectrum disorder, dysmorphia and neurodegenerative diseases.</p><p><strong>Results: </strong>We present 22 heterozygous and 2 homozygous/compound heterozygous individuals for the pathogenic/likely pathogenic LPL variant and describe HTG levels, phenotypic manifestations and age of onset in the context of molecular findings where available. We report for the first time heterozygous LPL individuals with very severe HTG (TG ≥ 22.6 mmol/l; > 2000 mg/dl) and additional symptoms such as pancreatitis and recurrent abdominal pain.</p><p><strong>Conclusions: </strong>We argue that although the individuals carrying the single LPL pathogenic/likely pathogenic variant display the whole disease spectrum, the severe phenotype of heterozygotes with dominantly inherited LPL-related HTG may also exist.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"750-756"},"PeriodicalIF":3.3,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752149","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":"Hospital care for cancer patients: the impact of support services on the patient experience.","authors":"Mariola Borowska, Jakub Świtalski, Urszula Religioni, Krystian Wdowiak, Marta Mańczuk","doi":"10.5114/aoms/205073","DOIUrl":"10.5114/aoms/205073","url":null,"abstract":"","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"1080-1084"},"PeriodicalIF":3.3,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752145","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":"Evolving global patterns of congenital heart anomalies from 1990 to 2021.","authors":"Enhui Yang, Hao Lin, Yuansi Zhang, Yu Zhang, Feng Chen","doi":"10.5114/aoms/205265","DOIUrl":"10.5114/aoms/205265","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital heart anomalies (CHAs) remain a significant global health issue for children, evidenced by persistent disparities in healthcare access across different socio-demographic index (SDI) regions and genders, despite slight decreases in prevalence.</p><p><strong>Material and methods: </strong>This cross-sectional study used the Global Burden of Disease 2021 dataset to analyze CHAs in children aged 0-14 from 204 countries. Data analysis was performed using R software, incorporating global mapping, Joinpoint regression, and estimation of annual percent changes and rates, stratified by age, sex, and SDI.</p><p><strong>Results: </strong>A total of 218,909,652 children, including 113,892,505 (52.03%) males and 105,017,147 (47.97%) females, were included in the analysis. From 1990 to 2021, the global prevalence of CHAs in children decreased by 4.294% (95% uncertainty interval [UI], -5.696-2.695%). Over three decades, CHA-associated deaths decreased from 497,979 (95% UI: 282,166-642,052) to 222,415 (95% UI: 181,359-275,182). The global mortality rate decreased from 28.633 (95% UI: 16.224-36.918) to 11.055 (95% UI: 9.014-13.678) per 100,000 population, while the prevalence rate changed from 377.257 cases per 100,000 in 1990 to 361.060 cases per 100,000 in 2021. Among the five SDI regions, the low SDI region had the highest CHA-associated mortality rate in 2021.</p><p><strong>Conclusions: </strong>The study highlights the persistent global challenge of CHAs, particularly in low-SDI regions. It underscores the need for targeted public health interventions to reduce disparities and improve health outcomes globally.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1201-1212"},"PeriodicalIF":3.3,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278859","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":"Associations of preoperative Oswestry Disability Index and EuroQol-5D with long-term all-cause mortality in patients undergoing percutaneous vertebroplasty.","authors":"Yu-Hsien Lin, Yun-Che Wu, Yu-Tsung Lin, Wen-Chien Wang, Kun-Hui Chen, Chien-Chou Pan, Ching-Heng Lin, Jun-Sing Wang, Cheng-Hung Lee","doi":"10.5114/aoms/204372","DOIUrl":"10.5114/aoms/204372","url":null,"abstract":"<p><strong>Introduction: </strong>Oswestry Disability Index (ODI) and EuroQol-5D (EQ-5D) have been widely used to assess general health quality and function in clinical studies of patients with vertebral fractures. We aimed to investigate the associations of preoperative ODI and EQ-5D with long-term mortality in patients undergoing percutaneous vertebroplasty.</p><p><strong>Material and methods: </strong>We retrospectively identified adult patients who had a single-level vertebral compression fracture and received percutaneous vertebroplasty between 2013 and 2020. Patients with traumatic fractures, burst fractures, and pathologic fractures, as well as those who had missing information on preoperative assessment of ODI and EQ-5D, were excluded. Survival status of the study patients was confirmed at the end of March 2021. The associations of preoperative ODI and EQ-5D with all-cause mortality were examined using Cox-proportional hazard models.</p><p><strong>Results: </strong>A total of 167 patients were analyzed (mean age: 75.8 ±9.3 years, 25.7% male). There were 28 patients who died during a median follow-up duration of 2.1 years (63.6 per 1000 patient-years). Preoperative ODI was significantly associated with all-cause mortality after vertebroplasty (HR = 1.049, 95% CI: 1.008 to 1.092, <i>p</i> = 0.018). In contrast, preoperative EQ-5D was independently associated with a lower risk of all-cause mortality after the surgery (HR = 0.202, 95% CI: 0.043 to 0.936, <i>p</i> = 0.041).</p><p><strong>Conclusions: </strong>Preoperative assessment of ODI (HR = 1.049, 95% CI: 1.008 to 1.092) and EQ-5D (HR = 0.202, 95% CI: 0.043 to 0.936) may help determine postoperative long-term mortality risk in this aging surgical population.</p>","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1381-1387"},"PeriodicalIF":3.3,"publicationDate":"2025-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278907","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":"Limited confidence in cervical cancer screening - unusually increased carcinoembryonic antigen expression resulting in the rapid development of cervical intraepithelial neoplasia grade 2.","authors":"Alicja Rzymska, Witold Kycler, Magdalena Muszyńska, Paweł Rzymski","doi":"10.5114/aoms/204809","DOIUrl":"10.5114/aoms/204809","url":null,"abstract":"","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"1073-1076"},"PeriodicalIF":3.3,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752148","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":"Blood coagulation disorders associated with transient global amnesia (TGA): a cause or consequence?","authors":"Dariusz Dziubek, Karolina Dziubek, Marcelina Stodolak","doi":"10.5114/aoms/205327","DOIUrl":"10.5114/aoms/205327","url":null,"abstract":"","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 3","pages":"1077-1079"},"PeriodicalIF":3.3,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12305508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752138","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":"Hypertensive heart disease mortality trends attributable to high body mass index over the period 1990-2021 and projections up to 2040.","authors":"Zhaohui Xu, Letai Li, Yinqin Hu, Jiahui Yang, Qiqi Wan, Xinyu Zhang, Rongjia Liu, Cheng Lu, Yongming Liu","doi":"10.5114/aoms/204185","DOIUrl":"10.5114/aoms/204185","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Hypertensive heart disease (HHD) has emerged as a significant global public health concern, with the increasing prevalence of high body mass index (HBMI) contributing to its growing burden. This study aimed to evaluate trends in HHD mortality attributable to HBMI from 1990 to 2021 and projections up to 2040.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Material and methods: &lt;/strong&gt;Data on HHD mortality attributable to HBMI were obtained from the Global Burden of Diseases (GBD) 2021 database. Temporal trends in the burden of HHD attributable to HBMI were analyzed using generalized linear models to calculate the estimated annual percentage change (EAPC) in age-standardized mortality rates (ASMR) and age-standardized disability-adjusted life-year (DALY) rates (ASDR) from 1990 to 2021. A linked-point regression model, based on a linear statistical framework, was employed to evaluate these trends. Additionally, the burden of HHD attributable to HBMI was further analyzed by disaggregating contributions from population size, age structure, and epidemiologic changes. Cross-national inequalities in this burden were quantified using standard health equity methodologies recommended by the World Health Organization (WHO). Finally, changes in the burden of HHD attributable to HBMI were projected to 2040.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;From 1990 to 2021, the global ASMR for HHD attributable to HBMI increased from 6.83 to 7.21, with an EAPC value of 0.33 for the ASMR. ASDR increased from 144.72 to 147.33, with an EAPC value of 0.15 for ASDR. Particularly severe ASMR and ASDR were observed in most countries in Africa and in a few countries along the Mediterranean coast. In contrast, most developed countries in North America, Europe, and Australia presented lower ASMR and ASDR. When the overall trend was divided into subsections, at the end of the study period, ASMR and ASDR for HHD attributable to HBMI showed a downward trend. By dividing the regions by sociodemographic index (SDI), middle SDI had the greatest fluctuation in ASMR and ASDR, and low SDI showed an increasing trend in ASMR and ASDR at the final joinpoint. Decomposition analyses found that population growth and aging were the main factors driving changes in the burden of death due to HHD attributable to HBMI. Cross-country inequality analyses showed that high SDI countries bear a disproportionate share of the burden of deaths due to HHD attributable to HBMI and that SDI-related inequality has increased over time. Global trends in ASMR and ASDR for HHD attributable to HBMI are projected to show gradual and moderate increases from 2022 to 2040, but the number of deaths and DALYs will continue to increase.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;From 1990 to 2021, the burden of HHD attributable to HBMI increased globally, with developing countries and low SDI regions bearing a relatively large burden of disease. Furthermore, this burden is expected to continue to increase until 2040. Therefore, more t","PeriodicalId":8278,"journal":{"name":"Archives of Medical Science","volume":"21 4","pages":"1164-1176"},"PeriodicalIF":3.3,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278883","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}