Advances in Clinical and Experimental Medicine最新文献

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New statistical guidelines for manuscripts submitted to Advances in Clinical and Experimental Medicine. 提交给《临床与实验医学进展》的手稿的新统计指南。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-25 DOI: 10.17219/acem/206009
Krzysztof Kujawa, Wojciech Bombała, Anna Kopszak, Jakub Wronowicz, Maciej Wuczyński, Łukasz Lewandowski, Michał Czapla
{"title":"New statistical guidelines for manuscripts submitted to Advances in Clinical and Experimental Medicine.","authors":"Krzysztof Kujawa, Wojciech Bombała, Anna Kopszak, Jakub Wronowicz, Maciej Wuczyński, Łukasz Lewandowski, Michał Czapla","doi":"10.17219/acem/206009","DOIUrl":"https://doi.org/10.17219/acem/206009","url":null,"abstract":"<p><p>The updated statistical reporting guidelines for Advances in Clinical and Experimental Medicine (ACEM) streamline the way in which authors describe their statistical analyses and results. In response to the rising popularity of advanced techniques - such as Bayesian statistics and machine learning - the revisions balance methodological rigor with article readability.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144482871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An underrated clinical tool: CBC-derived inflammation indices as a highly sensitive measure of systemic immune response and inflammation. 一个被低估的临床工具:cbc衍生的炎症指标是一种高度敏感的全身免疫反应和炎症指标。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-17 DOI: 10.17219/acem/205833
Victor Geller, Marzena Dominiak
{"title":"An underrated clinical tool: CBC-derived inflammation indices as a highly sensitive measure of systemic immune response and inflammation.","authors":"Victor Geller, Marzena Dominiak","doi":"10.17219/acem/205833","DOIUrl":"https://doi.org/10.17219/acem/205833","url":null,"abstract":"<p><p>This editorial explores the clinical potential of complete blood count-derived inflammation indices (CBC-DIIs) as sensitive and cost-effective measures of systemic inflammation and immune response.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Keratin biomaterials for wound healing and tissue regeneration: A promising approach in biomedical applications. 角蛋白生物材料用于伤口愈合和组织再生:一种有前途的生物医学应用方法。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-17 DOI: 10.17219/acem/205998
Marek Konop
{"title":"Keratin biomaterials for wound healing and tissue regeneration: A promising approach in biomedical applications.","authors":"Marek Konop","doi":"10.17219/acem/205998","DOIUrl":"https://doi.org/10.17219/acem/205998","url":null,"abstract":"<p><p>Keratin biomaterials, derived from natural sources, offer a promising, biocompatible solution for wound healing and tissue regeneration, though further clinical studies are needed to confirm their efficacy.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of physical performance and muscle function in hemodialysis patients participating in an exercise regimen: A cluster-randomized, single-center study. 参与运动方案的血液透析患者的身体表现和肌肉功能评估:一项集群随机,单中心研究。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-11 DOI: 10.17219/acem/202940
Łukasz Rogowski, Joanna Kowalska, Katarzyna Bulińska, Małgorzata Stefańska, Agnieszka Zembroń-Łacny, Andrea Mahrová, Jitka Marenčáková, Weronika Pawlaczyk, Tomasz Gołębiowski, Witold Wnukiewicz, Mariusz Kusztal, Wioletta Dziubek
{"title":"Assessment of physical performance and muscle function in hemodialysis patients participating in an exercise regimen: A cluster-randomized, single-center study.","authors":"Łukasz Rogowski, Joanna Kowalska, Katarzyna Bulińska, Małgorzata Stefańska, Agnieszka Zembroń-Łacny, Andrea Mahrová, Jitka Marenčáková, Weronika Pawlaczyk, Tomasz Gołębiowski, Witold Wnukiewicz, Mariusz Kusztal, Wioletta Dziubek","doi":"10.17219/acem/202940","DOIUrl":"https://doi.org/10.17219/acem/202940","url":null,"abstract":"<p><strong>Background: </strong>Many studies reported positive effects of physical exercise on the condition of dialysis patients. The insufficient value of those changes makes it difficult to interpret their clinical relevance.</p><p><strong>Objectives: </strong>This study aimed to assess the influence of selected training (endurance, resistance, tai chi) on cardiopulmonary fitness and muscle function, as well as to analyze the factors having the most significant effect on cardiopulmonary fitness in a group of dialysis patients.</p><p><strong>Material and methods: </strong>Ninety-eight patients agreed to participate in the study. Selection of the type of training was done by cluster randomization. Group 1 were patients in a cluster with an endurance exercise program, and group 2 in a cluster with resistance exercises. Group 3 consisted of patients who took part in a tai chi program (non-cluster randomization). Exercise programs with each of the 3 groups were conducted for a period of 6 months, 3 times a week (groups 1 and 2) and twice a week (group 3), up to 60 min for 1 session.</p><p><strong>Results: </strong>The full exercises was completed by 45 patients: group 1 - 16; group 2 - 15; group 3 - 14. The significance of the observed difference in the cardiopulmonary function was confirmed only in endurance group for absolute oxygen concumption (VO2) and heart rate (HR). Measurements of peak torque (PTQ) and total work (TW) performed at a speed of 60°/s showed a significant increase in the measured values only in the resistance training group. Measurements of PTQ and TW performed at 180°/s showed a significant increase in the measured values in the endurance and resistance group.</p><p><strong>Conclusions: </strong>The 6 months of training resulted in a slight improvement in cardiopulmonary parameters only in the endurance group. The above results seem to confirm the observed limited potential for improving aerobic capacity in dialysis patients. The results of strength and speed parameters shows the specificity of each training, expressed by selective improvements in isometric and both isokinetic tests.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144264963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlations between OCT, OCT angiography and fundus autofluorescence in adults with superficial optic disc drusen: The importance of multimodal imaging. 成人视盘浅表性囊肿的OCT、OCT血管造影与眼底自身荧光的相关性:多模态成像的重要性。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-06 DOI: 10.17219/acem/202319
Paulina Szabelska, Joanna Brydak-Godowska, Przemysław Krajewski, Radosław Różycki, Joanna Gołębiewska
{"title":"Correlations between OCT, OCT angiography and fundus autofluorescence in adults with superficial optic disc drusen: The importance of multimodal imaging.","authors":"Paulina Szabelska, Joanna Brydak-Godowska, Przemysław Krajewski, Radosław Różycki, Joanna Gołębiewska","doi":"10.17219/acem/202319","DOIUrl":"https://doi.org/10.17219/acem/202319","url":null,"abstract":"<p><strong>Background: </strong>Optic nerve head drusen (ONHD) are benign calcified deposits that can compress local capillaries, disrupt blood flow and potentially lead to visual loss.</p><p><strong>Objectives: </strong>The aim of the study was to present the correlations between optical coherence tomography (OCT), OCT angiography (OCTA) results and fundus autofluorescence (FAF) findings in patients with ONHD, and to highlight the importance of multimodal imaging in the diagnosis and management of this pathology.</p><p><strong>Material and methods: </strong>This retrospective study included 21 patients (36 eyes) with ONHD, with a mean age of 45.75 years (range: 19-71 years), who had no other ocular pathologies. All participants underwent a full ophthalmic examination and multimodal imaging using the DRI Triton OCT (Topcon). Drusen presence was divided into quadrants based on FAF and correlated with OCT and OCTA results.</p><p><strong>Results: </strong>Optic nerve head drusen were unilateral in 6 patients (28.57%) and bilateral in 15 (71.43%). Drusen were most common in the nasal and superior quadrants (NQ and SQ) but were significantly more frequent in the inferior (IQ) and temporal (TQ) quadrants in patients with bilateral ONHD. Eyes with drusen located in the IQ and TQ showed a significantly decreased radial peripapillary capillary (RPCP) vessel density (VD). Retinal nerve fibre layer (RNFL) measurements showed the strongest positive correlations with RPCP, especially in the IQ (r = 0.78, p < 0.001). Ganglion cell layer and nerve fiber layer (GCL++) thickness showed significant correlations with RPCP VD, particularly in the IQ and TQ (p < 0.001 for both).</p><p><strong>Conclusions: </strong>Fundus autofluorescence is a valuable tool for identifying superficial drusen. Optical coherence tomography and OCTA are effective in assessing optic nerve fiber integrity and microvascular changes. Microcirculation assessment using OCTA should focus not only on the radial peripapillary capillaries (RPCP), but also on the macular region. Multimodal imaging plays a crucial role in the accurate diagnosis and comprehensive evaluation of patients with ONHD. Further longitudinal studies are needed to investigate how these correlations evolve over time, particularly in the context of ONHD progression.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Circular RNA hsa_circ_0008433 drives vascular smooth muscle cell modulation in intracranial aneurysm pathogenesis. 环状RNA hsa_circ_0008433在颅内动脉瘤发病过程中驱动血管平滑肌细胞调节。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-06 DOI: 10.17219/acem/196543
Fan Wang, Qiu-Yu Huang, Yi-Le Zeng, Xiao-Dong Kang, Qing Huang
{"title":"Circular RNA hsa_circ_0008433 drives vascular smooth muscle cell modulation in intracranial aneurysm pathogenesis.","authors":"Fan Wang, Qiu-Yu Huang, Yi-Le Zeng, Xiao-Dong Kang, Qing Huang","doi":"10.17219/acem/196543","DOIUrl":"https://doi.org/10.17219/acem/196543","url":null,"abstract":"<p><strong>Background: </strong>Intracranial aneurysm (IA) is a serious condition that can lead to a life-threatening rupture, often resulting in a hemorrhagic stroke. Vascular smooth muscle cell (VSMC) dysfunction is a critical factor in the pathogenesis of IA, yet the molecular mechanisms underlying this relationship are not yet fully understood. Recent studies suggest that circular RNAs (circRNAs) are involved in various vascular diseases. High-throughput sequencing identified hsa_circ_0008433 as significantly upregulated in IA tissues, especially in ruptured cases, suggesting a role in IA progression.</p><p><strong>Objectives: </strong>To further investigate the potential effects of hsa_circ_0008433 on the rupture of human IA.</p><p><strong>Material and methods: </strong>This study aimed to investigate the effects of hsa_circ_0008433 on IA rupture. We validated the expression of hsa_circ_0008433 in IA patient tissue samples through reverse transcription quantitative polymerase chain reaction (RT-qPCR), comparing ruptured and unruptured aneurysms. Human brain vascular smooth muscle cells (HBVSMCs) were utilized to establish overexpression and knockdown models for hsa_circ_0008433. Cell Counting Kit-8 (CCK-8) and wound healing assays were conducted to assess cell proliferation and migration, while western blotting was employed to measure VSMC phenotype markers including α-smooth muscle actin (α-SMA), smooth muscle protein 22-alpha (SM22α), matrix metalloproteinase-2 (MMP-2), and matrix metalloproteinase-9 (MMP-9).</p><p><strong>Results: </strong>The RT-qPCR analysis confirmed that hsa_circ_0008433 was significantly upregulated in IA tissues, especially in ruptured samples (p < 0.05). Overexpression of hsa_circ_0008433 in HBVSMCs promoted proliferation, migration and phenotype switching, indicated by increased expression of MMPs and decreased contractile proteins. The effects were reversed by the knockdown of hsa_circ_0008433.</p><p><strong>Conclusions: </strong>We have shown that hsa_circ_0008433 regulates vascular smooth muscle cell function and promotes behaviors that may lead to intracranial aneurysm instability. This study advances the understanding of the role of circRNAs in vascular pathology and identifies hsa_circ_0008433 as a potential therapeutic target for IA. These findings open opportunities for targeted treatments and broader applications in vascular disease research.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144232861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vestibular rehabilitation: Proven benefits in enhancing balance and reducing dizziness. 前庭康复:证实在增强平衡和减少头晕方面有好处。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-05 DOI: 10.17219/acem/193242
Xiaohua Sun, Zuwei Cao, Xin Li
{"title":"Vestibular rehabilitation: Proven benefits in enhancing balance and reducing dizziness.","authors":"Xiaohua Sun, Zuwei Cao, Xin Li","doi":"10.17219/acem/193242","DOIUrl":"https://doi.org/10.17219/acem/193242","url":null,"abstract":"<p><strong>Background: </strong>Vestibular rehabilitation therapy (VRT) is widely utilized to enhance balance and mitigate dizziness in patients with vestibular disorders. However, its overall effectiveness remains to be comprehensively assessed, particularly in the context of variability among studies.</p><p><strong>Objectives: </strong>This study aimed to address the current need for a systematic evaluation of VRT's efficacy.</p><p><strong>Material and methods: </strong>A meta-analysis was conducted using the \"meta\" and \"dmetar\" R packages to evaluate VRT's efficacy. The analysis included statistical tools, such as Begg's test, Egger's test, Baujat plots, Galbraith plots, and influence analysis. Additionally, heterogeneity and outliers were assessed using generalized scatterplot smoothing (GOSH) diagnostics and clustering methods, including K-means, density-based spatial clustering of applications with noise (DBSCAN) and Gaussian mixture model (GMM).</p><p><strong>Results: </strong>The meta-analysis examined the impact of VRT on the dizziness handicap inventory (DHI) and Berg balance scale (BBS). For the DHI, VRT resulted in a significant mean improvement of 7.63 points, despite high heterogeneity (I2 = 88%). Similarly, the BBS exhibited significant improvement, with a mean difference (MD) of -2.31 points in the fixed effects model, while the random effects model also suggested improvement, though with greater variability (I2 = 92%). Subgroup analysis identified outliers significantly influencing the results.</p><p><strong>Conclusion: </strong>We showed that VRT significantly enhanced patient outcomes as measured with both the DHI and BBS. These findings provide strong evidence supporting VRT's effectiveness, though the substantial heterogeneity underscores the need for further research to refine patient selection and intervention protocols. This study advances the understanding of VRT's role in managing vestibular disorders and highlights the importance of addressing variability in future studies.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144223958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Author guidelines in medical journals: Essential rules and rationale. 医学期刊作者指南:基本规则和基本原理。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-06-05 DOI: 10.17219/acem/205025
Marek Misiak, Donata Kurpas
{"title":"Author guidelines in medical journals: Essential rules and rationale.","authors":"Marek Misiak, Donata Kurpas","doi":"10.17219/acem/205025","DOIUrl":"https://doi.org/10.17219/acem/205025","url":null,"abstract":"<p><p>Instructions for authors issues by editorial offices of scientific journals require periodical critical analysis in order to maintain their clarity and understandability. In this editorial, selected aspects of such guidelines published issued by Advances in Clinical and Experimental Medicine were reappraised by the editors of this journal - regulations concerning financial disclosure and conflict of interest, as well as acknowledgements, equal contribution of 2 or more authors, tables, figures, and references were discussed. Reasons for chosen rules were provided - those which (based on editors' experience and expertise) may not seem obvious to authors - e.g., why equal contribution is permitted, while co-first authorship is not. Multiple examples of papers fulfilling the analyzed rules in a copybook fashion were provided. In Conclusions, it was briefly discussed whether some of the rules specified in instructions for authors could be enforced only after acceptance for publication (e.g., when numeration of tables and figures is concerned or rules regarding acknowledgements). In this section, it was also explained why other rules listed above should be fulfilled before the peer review commences, for 3 reasons: 1) information about funding sources and conflict of interest is crucial for the ethical integrity of the whole work and cannot be added at a later stage; 2) Satisfactory quality of tables and figures is a prerequisite for peer review; 3) Resolving many issues after acceptance would be cumbersome (e.g., reducing the number of tables or figures) or at least significantly extend the time required for editing.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144223957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Venetoclax used alone, or in combination with cladribine, changes the expression of apoptosis-regulating genes in chronic lymphocytic leukemia cells in vitro. 在体外实验中,Venetoclax单独使用或与cladribine联合使用可改变慢性淋巴细胞白血病细胞凋亡调节基因的表达。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-05-28 DOI: 10.17219/acem/199382
Aleksandra B Jaguścik, Ewelina I Ziółkowska, Dariusz Wołowiec, Izabela Zawlik, Michał Soin, Dariusz Jarych, Tadeusz Robak, Anna B Korycka-Wołowiec
{"title":"Venetoclax used alone, or in combination with cladribine, changes the expression of apoptosis-regulating genes in chronic lymphocytic leukemia cells in vitro.","authors":"Aleksandra B Jaguścik, Ewelina I Ziółkowska, Dariusz Wołowiec, Izabela Zawlik, Michał Soin, Dariusz Jarych, Tadeusz Robak, Anna B Korycka-Wołowiec","doi":"10.17219/acem/199382","DOIUrl":"https://doi.org/10.17219/acem/199382","url":null,"abstract":"<p><strong>Background: </strong>Venetoclax (VEN) and cladribine (2-CdA) are active agents in the treatment of chronic lymphocytic leukemia (CLL), although their precise pro-apoptotic mechanisms in CLL cells remain unclear. However, in vitro studies suggest that these drugs may alter the expression of several proteins involved in apoptosis.</p><p><strong>Objectives: </strong>The aim of the study was to evaluate the effect of VEN and 2-CdA, used individually and in combination, on the expression of apoptosis-related genes in CLL cells in vitro.</p><p><strong>Material and methods: </strong>Mononuclear cells were collected from peripheral blood of 40 previously untreated CLL patients. The expression of 17 apoptosis-related genes was assessed using nCounter NanoString technology before and after 48-h in vitro incubation with VEN, 2-CdA or their combination (VEN + 2-CdA).</p><p><strong>Results: </strong>Venetoclax + 2-CdA had a stronger effect on all tested genes except BCL2 and PMAIP compared to VEN alone, and on BID, BIK, FADD, P53, and SMAD3 compared to 2-CdA alone.</p><p><strong>Conclusions: </strong>Venetoclax and 2-CdA may exert their pro-apoptotic effects on CLL cells in vitro, at least in part, by stimulating the expression of several apoptosis-related genes. The antileukemic activity of VEN is further enhanced when combined with 2-CdA.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Importance of single nucleotide polymorphism microarray in prenatal diagnosis. 单核苷酸多态性芯片在产前诊断中的重要性。
IF 2.1 4区 医学
Advances in Clinical and Experimental Medicine Pub Date : 2025-05-23 DOI: 10.17219/acem/202728
Zonghui Feng, Yan Chen, Fengmei Yi, Min Li, Shumin Jiang, Chunyue He, Yangli Chen, Maosheng Chen, Wencheng Li
{"title":"Importance of single nucleotide polymorphism microarray in prenatal diagnosis.","authors":"Zonghui Feng, Yan Chen, Fengmei Yi, Min Li, Shumin Jiang, Chunyue He, Yangli Chen, Maosheng Chen, Wencheng Li","doi":"10.17219/acem/202728","DOIUrl":"https://doi.org/10.17219/acem/202728","url":null,"abstract":"<p><strong>Background: </strong>With the increasing number of older pregnant women and environmental pollution, the incidence of congenital malformations increases every year. Prenatal diagnosis is an effective means of identifying congenital malformations.</p><p><strong>Objectives: </strong>To evaluate the clinical utility of single nucleotide polymorphism (SNP) microarray analysis during prenatal evaluations.</p><p><strong>Material and methods: </strong>To assess the similarities and differences between the 2 approaches, 425 pregnant women were selected to undergo prenatal gene SNP microarray analysis and karyotype analysis during prenatal evaluation between January 2020 and August 2021.</p><p><strong>Results: </strong>The success rate of SNP microarray analysis was 100%, which was statistically different from that of karyotype analysis (92%, Fisher's exact test, p < 0.001). The positive rate of SNP detection was 10.4% higher than karyotype analysis, which was 6.6% (Pearson's χ2 test, χ2 = 3.89, degrees of freedom (df) = 1, p = 0.049). Karyotype analysis detected 28 cases of aneuploidy; SNPs could not only detect these results of karyotype analysis, but 16 cases of copy number variations (CNV) with obvious pathogenicity, including duplications/deletions, chimerism and loss of heterozygosity (LOH).</p><p><strong>Conclusions: </strong>Single nucleotide polymorphism microarray analysis technology is an important method used in prenatal genetic evaluations, which can find fetal genetic etiologies, correctly evaluate the fetal prognosis during prenatal clinical examination, and provide a more objective basis for whether to continue the pregnancy.</p>","PeriodicalId":7306,"journal":{"name":"Advances in Clinical and Experimental Medicine","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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