Journal of Clinical Laboratory Analysis最新文献

{"title":"PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico","authors":"Marianela Zambrano-Román,&nbsp;Jorge R. Padilla-Gutiérrez,&nbsp;Yeminia Valle,&nbsp;José F. Muñoz-Valle,&nbsp;Elizabeth Guevara-Gutiérrez,&nbsp;Diana Emilia Martínez-Fernández,&nbsp;Emmanuel Valdés-Alvarado","doi":"10.1002/jcla.25010","DOIUrl":"10.1002/jcla.25010","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Basal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in <i>PTCH1</i> gene have been previously described in association with BCC development. In addition, <i>PTCH1</i> mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An analytical cross-sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin-embedded samples with PTCH1 antibodies. Semi-quantitative analysis was performed to determine the expression level in the immunostained cells.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We did not find evidence of an association between <i>PTCH1</i> rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (<i>p</i> &gt; 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic-clinical characteristics (<i>p</i> &gt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The studied <i>PTCH1</i> variants may not be associated with BCC development in the Western Mexico population. The <i>PTCH1</i> mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 3","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139576057","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":"Elevation of free triiodothyronine (fT3) levels by Plasmodium falciparum independent of thyroid stimulating hormone (TSH) in children with uncomplicated malaria","authors":"Henrietta Kwansa-Bentum,&nbsp;Enoch Aninagyei,&nbsp;David Adedia,&nbsp;Nii Korley Kortei,&nbsp;Adjoa Boakye Agyemang,&nbsp;Clement Okraku Tettey","doi":"10.1002/jcla.25013","DOIUrl":"10.1002/jcla.25013","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Malaria parasites have a devastating effect on the infected host. However, there is a paucity of data on the effect of <i>Plasmodium falciparum</i> on thyroid hormones.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This case–control study (1:1) involved children &lt;16 years of age with uncomplicated malaria. Hematological parameters were determined using the URIT-5380 hematology analyzer (China). Later, levels of thyroid hormones, namely free triiodothyronine (fT3), free tetraiodothyronine (fT4), and thyroid-stimulating hormone (TSH), were determined using human ELISA kits (DiaSino ELISA kit, Zhengzhou, China).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety children with malaria and ninety matched control group were studied. Overall, compared to the control group, lower TSH (3.43 ± 1.25 vs. 3.84 ± 1.34, <i>p</i> = 0.035) and elevated levels of fT3 levels (5.85 ± 1.79 vs. 3.89 ± 1.19, <i>p</i> &lt; 0.001) were observed in patients with malaria. However, fT4 levels were comparable between cases and control group (16.37 ± 2.81 vs 17.06 ± 3.5, <i>p</i> = 0.150). Free T3 levels were significantly higher in children &lt;10 years (<i>p</i> &lt; 0.001) and higher among male children with malaria (<i>p</i> &lt; 0.001). Overall, there was a significant positive relationship between parasite counts and fT3 (<i>R</i> = 0.95, <i>p</i> &lt; 0.001). Furthermore, body temperature was positively correlated with fT3 (<i>R</i> = 0.97, <i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Isolated fT3 thyrotoxicosis was observed in falciparum malaria, especially in children &lt;10 years and male malaria patients, independent of TSH. This observation could explain the severity of malaria in children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 3","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139545476","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":"Nanobiosensors for procalcitonin (PCT) analysis","authors":"Ahmad Mobed,&nbsp;Mohammad Darvishi,&nbsp;Amir Tahavvori,&nbsp;Iraj Alipourfard,&nbsp;Fereshteh Kohansal,&nbsp;Farhood Ghazi,&nbsp;Vahid Alivirdiloo","doi":"10.1002/jcla.25006","DOIUrl":"10.1002/jcla.25006","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Procalcitonin (PCT) is a critical biomarker that is released in response to bacterial infections and can be used to differentiate the pathogenesis of the infectious process.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>In this article, we provide an overview of recent advances in PCT biosensors, highlighting different approaches for biosensor construction, different immobilization methods, advantages and roles of different matrices used, analytical performance, and PCT biosensor construction. Also, we will explain PCT biosensors sensible limits of detection (LOD), linearity, and other analytical characteristics. Future prospects for the development of better PCT biosensor systems are also discussed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Traditional methods such as capillary electrophoresis, high-performance liquid chromatography, and mass spectrometry are effective in analyzing PCT in the medical field, but they are complicated, time-consuming sample preparation, and require expensive equipment and skilled personnel.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the past decades, PCT biosensors have emerged as simple, fast, and sensitive tools for PCT analysis in various fields, especially medical fields.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These biosensors have the potential to accompany or replace traditional analytical methods by simplifying or reducing sample preparation and making field testing easier and faster, while significantly reducing the cost per analysis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 3","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139545477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of HLA genetic variants in COVID-19 susceptibility, severity, and mortality: A global review","authors":"Taraneh Hoseinnezhad,&nbsp;Nasrin Soltani,&nbsp;Sarina Ziarati,&nbsp;Emad Behboudi,&nbsp;Mohammad Javad Mousavi","doi":"10.1002/jcla.25005","DOIUrl":"10.1002/jcla.25005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The COVID-19 pandemic has had a profound global impact, with variations in susceptibility, severity, and mortality rates across different regions. While many factors can contribute to the spread and impact of the disease, specifically human leukocyte antigen (HLA) genetic variants have emerged as potential contributors to COVID-19 outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this comprehensive narrative review, we conducted a thorough literature search to identify relevant studies investigating the association between HLA genetic variants and COVID-19 outcomes. Additionally, we analyzed allelic frequency data from diverse populations to assess differences in COVID-19 incidence and severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our review provides insights into the immunological mechanisms involving HLA-mediated responses to COVID-19 and highlights potential research directions and therapeutic interventions. We found evidence suggesting that certain HLA alleles, such as HLA-A02, may confer a lower risk of COVID-19, while others, like HLA-C04, may increase the risk of severe symptoms and mortality. Furthermore, our analysis of allele frequency distributions revealed significant variations among different populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Considering host genetic variations, particularly HLA genetic variants, is crucial for understanding COVID-19 susceptibility and severity. These findings have implications for personalized treatment and interventions based on an individual's genetic profile. However, further research is needed to unravel the precise mechanisms underlying the observed associations and explore the potential for targeted therapies or preventive measures based on HLA genetic variants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512492","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":"Periodontal disease in down syndrome: Predisposing factors and potential non-surgical therapeutic approaches","authors":"Mahdie Ghaffarpour,&nbsp;Morteza Karami-Zarandi,&nbsp;Hossein Ali Rahdar,&nbsp;Seifu Gizaw Feyisa,&nbsp;Elahe Taki","doi":"10.1002/jcla.25002","DOIUrl":"10.1002/jcla.25002","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Periodontal diseases (PDs) have been documented to be significantly more prevalent and severe in patients with Down syndrome (DS). Different immunological and microbiological factors contributed to predisposing these patients to progressive and recurrent PDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The aim of this review was to investigate the altered immunological responses and oral microbiota disorders as well as focus on adjunctive non-surgical methods for the treatment of PDs and its applicability in patients with DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Material and Methods</h3>\u0000 \u0000 <p>A literature review was conducted addressing the following topics: (1) the altered immunological responses, (2) orofacial disorders related to DS patients, (3) oral microbiota changing, and (4) adjunctive non-surgical treatment and its efficacy in patients with DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Due to the early onset of PDs in children with DS, the need for prompt and effective treatment in these patients is essential.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and Conclusion</h3>\u0000 \u0000 <p>So, investigating underlying factors may open a new window to better understand the pathology of PDs in DS people and thus, find better strategies for treatment in such group. Although non-surgical treatments such as photodynamic therapy and probiotic consumption represented acceptable outcomes in different examined patients without DS, data about the application of these convenience and no need for local anesthesia methods in patients with DS is limited.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139520292","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 culture quality and turnaround time of clinical microbiology laboratories in Chinese Teaching Hospitals: A multicenter study","authors":"Wanting Liu,&nbsp;Kang Liao,&nbsp;Jinsong Wu,&nbsp;Suling Liu,&nbsp;Xin Zheng,&nbsp;Weihong Wen,&nbsp;Liang Fu,&nbsp;Xiaoyi Fan,&nbsp;Xiao Yang,&nbsp;Xiumei Hu,&nbsp;Yueting Jiang,&nbsp;Kuihai Wu,&nbsp;Zhusheng Guo,&nbsp;Yang Li,&nbsp;Weiyang Liu,&nbsp;Mufa Cai,&nbsp;Zhaowang Guo,&nbsp;Xuguang Guo,&nbsp;Jinghui Lu,&nbsp;Enzhong Chen,&nbsp;Hongwei Zhou,&nbsp;Dingqiang Chen","doi":"10.1002/jcla.25008","DOIUrl":"10.1002/jcla.25008","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Blood culture (BC) remains the gold standard for the diagnosis of bloodstream infections. Improving the quality of clinical BC samples, optimizing BC performance, and accelerating antimicrobial susceptibility test (AST) results are essential for the early detection of bloodstream infections and specific treatments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective multicenter study using 450,845 BC specimens from clinical laboratories obtained from 19 teaching hospitals between 1 January 2021 and 31 December 2021. We evaluated key performance indicators (KPIs), turnaround times (TATs), and frequency distributions of processing in BC specimens. We also evaluated the AST results of clinically significant isolates for four different laboratory workflow styles.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Across the 10 common bacterial isolates (<i>n</i> = 16,865) and yeast isolates (<i>n</i> = 1011), the overall median (interquartile range) TATs of AST results were 2.67 (2.05–3.31) and 3.73 (2.98–4.64) days, respectively. The specimen collections mainly occurred between 06:00 and 24:00, and specimen reception and loadings mainly between 08:00 and 24:00. Based on the laboratory workflows of the BCs, 16 of the 19 hospitals were divided into four groups. Time to results (TTRs) from specimen collection to the AST reports were 2.35 (1.95–3.06), 2.61 (1.98–3.32), 2.99 (2.60–3.87), and 3.25 (2.80–3.98) days for groups I, II, III, and IV, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study shows the related BC KPIs and workflows in different Chinese hospitals, suggesting that laboratory workflow optimization can play important roles in shortening time to AST reports and initiation of appropriate timely treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139484957","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":"Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing","authors":"Jee Ah Kim,&nbsp;Mi-Ae Jang,&nbsp;Shin Yi Jang,&nbsp;Duk-Kyung Kim,&nbsp;Young-gon Kim,&nbsp;Jong-Won Kim,&nbsp;Taek Kyu Park,&nbsp;Ja-Hyun Jang","doi":"10.1002/jcla.25009","DOIUrl":"10.1002/jcla.25009","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Marfan syndrome (MFS), caused by pathogenic variants of <i>FBN1</i> (fibrillin-1), is a systemic connective tissue disorder with variable phenotypes and treatment responsiveness depending on the variant. However, a significant number of individuals with MFS remain genetically unexplained. In this study, we report novel pathogenic intronic variants in <i>FBN1</i> in two unrelated families with MFS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We evaluated subjects with suspected MFS from two unrelated families using Sanger sequencing or multiplex ligation-dependent probe amplification of <i>FBN1</i> and/or panel-based next-generation sequencing. As no pathogenic variants were identified, whole-genome sequencing was performed. Identified variants were analyzed by reverse transcription-PCR and targeted sequencing of <i>FBN1</i> mRNA harvested from peripheral blood or skin fibroblasts obtained from affected probands.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found causative deep intronic variants, c.6163+1484A&gt;T and c.5788+36C&gt;A, in <i>FBN1</i>. The splicing analysis revealed an insertion of in-frame or out-of-frame intronic sequences of the <i>FBN1</i> transcript predicted to alter function of calcium-binding epidermal growth factor protein domain. Family members carrying c.6163+1484A&gt;T had high systemic scores including prominent skeletal features and aortic dissection with lesser aortic dilatation. Family members carrying c.5788+36C&gt;A had more severe aortic root dilatation without aortic dissection. Both families had ectopia lentis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Variable penetrance of the phenotype and negative genetic testing in MFS families should raise the possibility of deep intronic <i>FBN1</i> variants and the need for additional molecular studies. This study expands the mutation spectrum of <i>FBN1</i> and points out the importance of intronic sequence analysis and the need for integrative functional studies in MFS diagnosis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139485154","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":"Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations","authors":"Alireza Paniri,&nbsp;Mohammad Mahdi Hosseini,&nbsp;Sadegh Fattahi,&nbsp;Galia Amiribozorgi,&nbsp;Mohsen Asouri,&nbsp;Mansooreh Maadi,&nbsp;Nima Motamed,&nbsp;Farhad Zamani,&nbsp;Haleh Akhavan-Niaki","doi":"10.1002/jcla.24999","DOIUrl":"10.1002/jcla.24999","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and aim</h3>\u0000 \u0000 <p>Metabolic syndrome (MetS) increases the risk of atherosclerosis and diabetes, but there are no approved predictive markers. This study assessed the role of specific genetic variations in MetS susceptibility and their impact on clinical manifestations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In this study, a genotype–phenotype assessment was performed for IKZF3 (rs907091), microRNA-let-7a-2 (rs1143770), and lncRNA-CDKN2B-AS1 (rs1333045).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Analyses indicate that while rs907091 and rs1143770 may have potential associations with MetS susceptibility and an increased risk of atherosclerosis and diabetes, there is an observed trend suggesting that the rs1333045 CC genotype may be associated with a decreased risk of MetS. The genotypes and allele frequencies of rs1333045 were significantly different between studied groups (OR = 0.56, 95% CI 0.38–0.81, <i>p</i> = 0.002, and OR = 0.71, 95% CI 0.55–0.92, <i>p</i> = 0.008), with the CC genotype displaying increased levels of HDL. Furthermore, the rs907091 TT genotype was associated with increased triglyceride, cholesterol, and HOMA index in MetS patients. Subjects with the CC genotype for rs1143770 had higher HbA1c and BMI. In silico analyses illustrated that rs907091 C remarkably influences the secondary structure and the target site of a broad spectrum of microRNAs, especially hsa-miR-4497. Moreover, rs1333045 creates a binding site for seven different microRNAs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Further studies on other populations may help confirm these SNPs as useful predictive markers in assessing the MetS risk.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139403116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The establishment of a multiplex fluorescent polymerase chain reaction coupled with capillary electrophoresis analysis technology enables the simultaneous detection of 16 genotypes of human papillomavirus","authors":"Lingling Nie,&nbsp;Haiyang Qin,&nbsp;Sisi Li,&nbsp;Zailiang Yu,&nbsp;Weijin Huang,&nbsp;Li Zhang,&nbsp;Jian Zhao","doi":"10.1002/jcla.24996","DOIUrl":"10.1002/jcla.24996","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The detection and accurate genotyping of human papillomavirus (HPV) infection is critical for preventing and effectively treating cervical cancer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A multiplex fluorescent polymerase chain reaction (PCR) coupled with a capillary electrophoresis method was developed for the simultaneous detection of the 16 most prevalent HPV genotypes. Twenty-five pairs of primers were ultimately selected to ensure that both E and L regions of nine HPV genotypes, as well as the E regions of seven HPV genotypes could be accurately amplified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This method enables the simultaneous detection and differentiation of 16 HPV genotypes in a single closed-tube reaction, accurately distinguishing products with molecular weight differences &gt;1 bp through capillary electrophoresis. This method demonstrated exceptional accuracy, specificity, and repeatability with a detection limit of 10 copies/μL for all 16 HPV genotypes. Furthermore, 152 cervical swab specimens were obtained to compare the disparities between this approach and Cobas 4800 HPV detection method. The concordance rate and <i>κ</i> value were 90.1% and 0.802, respectively, indicating a high level of agreement. The established detection method was successfully applied to cervical swab specimens for determining HPV genotypes across all levels of cervical lesions, HPV52, 56, 16, and 59 were found to be most prevalent with infection rates of 10.8%, 9.1%, 6.5%, and 6.2%, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study has successfully established a detection method capable of simultaneously identifying 16 HPV genotypes. This approach can be further applied to HPV vaccine research and surveillance, with the potential for broad applications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138829990","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":"Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients","authors":"Hilal Akalin,&nbsp;Izem Olcay Sahin,&nbsp;Seyma Aktas Paskal,&nbsp;Busra Tan,&nbsp;Ezgi Yalcinkaya,&nbsp;Mikail Demir,&nbsp;Mustafa Yakubi,&nbsp;Busra Ozguc Caliskan,&nbsp;Ozlem Gokce Ekinci,&nbsp;Mehmet Ercan,&nbsp;Tugce Yasar Kucuk,&nbsp;Gizem Gokgoz,&nbsp;Aslihan Kiraz,&nbsp;Huseyin Per,&nbsp;Mahmut Tuncay Ozgun,&nbsp;Numan Baydilli,&nbsp;Yusuf Ozkul,&nbsp;Munis Dundar","doi":"10.1002/jcla.24997","DOIUrl":"10.1002/jcla.24997","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aim</h3>\u0000 \u0000 <p>Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>While this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 1-2","pages":""},"PeriodicalIF":2.7,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138805052","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}