Journal of Clinical Laboratory Analysis最新文献

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A Narrative Review of Bedaquiline and Delamanid: New Arsenals Against Multidrug-Resistant and Extensively Drug-Resistant Mycobacterium tuberculosis 贝达喹啉和德拉马尼的叙述性综述:对抗耐多药和广泛耐药结核分枝杆菌的新武器
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-09-04 DOI: 10.1002/jcla.25091
Nazanin Ahmad Khosravi, Mehrandokht Sirous, Azar Dokht Khosravi, Morteza Saki
{"title":"A Narrative Review of Bedaquiline and Delamanid: New Arsenals Against Multidrug-Resistant and Extensively Drug-Resistant Mycobacterium tuberculosis","authors":"Nazanin Ahmad Khosravi,&nbsp;Mehrandokht Sirous,&nbsp;Azar Dokht Khosravi,&nbsp;Morteza Saki","doi":"10.1002/jcla.25091","DOIUrl":"https://doi.org/10.1002/jcla.25091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The treatment of multidrug-resistant (MDR-) and extensively drug-resistant tuberculosis (XDR-TB) is a formidable challenge. Treatment of MDR- and XDR-TB using bedaquiline (BDQ) and delamanid (DLM), two newly introduced medications, is steadily increasing. This narrative review aimed to present a concise overview of the existing information regarding BDQ and DLM, and elucidate their antimicrobial characteristics, resistance mechanisms, synergism with other drugs, and side effects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To collect the required information about the antimicrobial properties, a search for scientific evidence from the Scopus, PubMed, and Embase databases was performed, and all recently published articles up to May 2024 were considered.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>BDQ had potent antimicrobial effects on various types of nontuberculous mycobacteria (NTM), including rapid-growing and slow-growing species, and MDR/XDR <i>Mycobacterium tuberculosis</i>. The mechanisms of BDQ resistance in <i>M. tuberculosis</i> primarily involve mutations in three genes: <i>atpE</i>, <i>mmpR</i> (<i>Rv0678</i>) and <i>pepQ</i>. BDQ may have synergistic effects when combined with DLM, pyrazinamide, and pretomanid/linezolid. BDQ has a low incidence of side effects. The use of BDQ may prolong the QTc interval. Similarly, DLM showed potent antimicrobial effects on NTM and MDR/XDR <i>M. tuberculosis</i>. The main resistance mechanisms to DLM are induced by mutations in <i>fbiA</i>, <i>fbiB</i>, <i>fbiC</i>, <i>fgd1</i>, and <i>ddn</i> genes. The DLM had synergistic effects with BDQ and moxifloxacin. The DLM also has few side effects in some patients including QTc prolongation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>BDQ and DLM are suitable antibiotics with few side effects for the treatment of MDR/XDR-TB. These antibiotics have synergistic effects when combined with other antituberculosis drugs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 15-16","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25091","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142152253","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}
引用次数: 0
Comparative Analysis of Commercial Immunoassays for the Determination of Total, Intact, and Nonintact Luteinizing Hormone in Urine 测定尿液中总黄体生成素、完整黄体生成素和非完整黄体生成素的商用免疫测定法比较分析
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-08-27 DOI: 10.1002/jcla.25075
And Demir, Mikko Anttonen, Henrik Alfthan, Ulf-Håkan Stenman, Matti Hero
{"title":"Comparative Analysis of Commercial Immunoassays for the Determination of Total, Intact, and Nonintact Luteinizing Hormone in Urine","authors":"And Demir,&nbsp;Mikko Anttonen,&nbsp;Henrik Alfthan,&nbsp;Ulf-Håkan Stenman,&nbsp;Matti Hero","doi":"10.1002/jcla.25075","DOIUrl":"10.1002/jcla.25075","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In our recent publications, we reported the identification of three different molecular forms of total luteinizing hormone (LH) in urine, the intact LH, the free beta-subunit (LHβ), and its core fragment of LHβ (LHβcf), the latter two establishing the nonintact portion of LH. Following the discontinuation of the Delfia immunofluorometric assay (IFMA) (Wallac, PerkinElmer Finland, Finland), a leading method for detecting urinary LH for 30 years, this study seeks to assess the efficacy of three alternative commercial immunoassays in identifying various forms of U-LH.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Diluted urine samples underwent gel filtration to separate them into fractions, each containing different forms of LH. These were then assayed using Delfia IFMA, Architect LH (Abbott, USA), Elecsys LH Cobas (Roche, Switzerland), and Immulite 2000 LH (Siemens, Germany) immunoassays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both Delfia and Immulite assays detected total U-LH, that is, all three forms of U-LH, including intact LH, LHβ, and LHβcf. Cobas detected only intact LH and LHβ, whereas Architect detected solely the intact LH.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Immulite assay can be an alternative tool to detect all forms of urinary LH, a feature likely to be instrumental in developing noninvasive, practical, and scalable solutions for evaluating total U-LH changes during minipuberty in neonates, during the onset of central puberty in peripubertal children, puberty-associated disorders in adolescents, and the fertility window in women, with a special focus on postpeak changes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 17-18","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080483","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}
引用次数: 0
Evaluation of a Diazo-Based Point-Of-Care Bilirubin Assay careSTART S1 Total Bilirubin Strip 评估基于重氮的护理点胆红素检测法 careSTART S1 总胆红素试纸。
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-08-21 DOI: 10.1002/jcla.25093
Woojae Kwoun, Jeong Joong Lee, Young-Ah Youn, Hyojin Chae, Jehoon Lee
{"title":"Evaluation of a Diazo-Based Point-Of-Care Bilirubin Assay careSTART S1 Total Bilirubin Strip","authors":"Woojae Kwoun,&nbsp;Jeong Joong Lee,&nbsp;Young-Ah Youn,&nbsp;Hyojin Chae,&nbsp;Jehoon Lee","doi":"10.1002/jcla.25093","DOIUrl":"10.1002/jcla.25093","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neonatal jaundice (NNJ) affects a significant proportion of newborns globally, with an increased burden in low-resource settings. Effective health risk management of NNJ is hindered, particularly in resource-constrained environments, where early detection and treatment are challenging. The careSTART S1 Total Bilirubin Strip, a point-of-care testing (POCT) device based on a diazo-method, offers a potential solution by enabling onsite bilirubin measurement, thus, addressing the gap in early NNJ detection and management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The current study evaluated the analytical performance of the careSTART S1 Total Bilirubin Strip for precision, linearity, method comparison, and lot-to-lot consistency following CLSI guidelines. For method comparison, 105 residual EDTA whole blood samples were analyzed with the careSTART S1 Total Bilirubin Strip and compared with reference measurements from the Roche Cobas c702 analyzer. Additionally, statistical analyses, including Passing-Bablok regression and Bland–Altman plots, were performed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The careSTART S1 Total Bilirubin Strip showed allowable (&lt;10%) within-laboratory imprecision of 2.5%–3.6% across all levels and demonstrated linearity over the range of 4.16–439.3 μmol/L. Method comparison revealed a constant negative bias with a mean bias −4.19 μmol/L. However, the 95% confidence interval (−7.10 to −1.28 μmol/L) of the bias is covered by the prespecified allowable bias of 8.3%, at medical decision point. Lot-to-lot variation ranged from 0.14%–6.49%, and was within the acceptable critical difference of 8.3%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The careSTART S1 Total Bilirubin Strip provided accurate and reliable bilirubin measurements that could contribute to neonatal care in settings lacking central laboratory facilities.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 15-16","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017676","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}
引用次数: 0
Application of Second-Generation Sequencing Technology in Lower Respiratory Tract Infection 第二代测序技术在下呼吸道感染中的应用
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-08-19 DOI: 10.1002/jcla.25090
Chong Wang, Shuo Yang, Qi Liu, Hongchao Liu, Shangjia Jin, Jiajia Zheng, Xiumei Xiao, Xin Hou, Jing Li, Sisi Ma, Liyan Cui
{"title":"Application of Second-Generation Sequencing Technology in Lower Respiratory Tract Infection","authors":"Chong Wang,&nbsp;Shuo Yang,&nbsp;Qi Liu,&nbsp;Hongchao Liu,&nbsp;Shangjia Jin,&nbsp;Jiajia Zheng,&nbsp;Xiumei Xiao,&nbsp;Xin Hou,&nbsp;Jing Li,&nbsp;Sisi Ma,&nbsp;Liyan Cui","doi":"10.1002/jcla.25090","DOIUrl":"10.1002/jcla.25090","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lower respiratory tract infection (LRTI) has long been an important threat to people's life and health, so the rapid diagnosis of LRTI is of great significance in clinical treatment. In recent years, the development of the sequencing technology provides a new direction for the rapid diagnosis of LRTI. In this review, the advantages and disadvantages of second-generation sequencing techniques represented by metagenomics next-generation sequencing (mNGS) and droplet digital polymerase chain reaction (ddPCR) in LRTI were reviewed. Furthermore, it offers insights into the future trajectory of this technology, highlighting its potential to revolutionise the field of respiratory infection diagnostics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This review summarises developments in mechanistic research of second-generation sequencing technology their relationship with clinical practice, providing insights for future research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Authors conducted a search on PubMed and Web of Science using the professional terms ‘Lower respiratory tract infection’ and ‘droplet digital polymerase chain reaction’ and ‘metagenomics next generation sequencing’. The obtained literature was then roughly categorised based on their research content. Similar studies were grouped into the same sections, and further searches were conducted based on the keywords of each section.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Different studies discussed the application of second-generation sequencing technology in LRTI from different angles, including the detection of pathogens of LRTI by mNGS and ddPCR, the prediction ability of drug-resistant bacteria, and comparison with traditional methods. We try to analyse the advantages and disadvantages of the second-generation sequencing technology by combing the research results of mNGS and ddPCR. In addition, the development direction of the second-generation sequencing technology is prospected.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 15-16","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25090","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000028","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}
引用次数: 0
Enhanced Commendable Sensitivity and Specificity for MSI in Colorectal Cancer by a New PCR-HRM Based 8-Loci MSI Assay 基于 PCR-HRM 的新型 8 个基因 MSI 检测法提高了结直肠癌 MSI 检测的灵敏度和特异性。
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-08-12 DOI: 10.1002/jcla.25085
Xueping Xiang, Xiaojing Ma, Linlin Ying, Hong Zou
{"title":"Enhanced Commendable Sensitivity and Specificity for MSI in Colorectal Cancer by a New PCR-HRM Based 8-Loci MSI Assay","authors":"Xueping Xiang,&nbsp;Xiaojing Ma,&nbsp;Linlin Ying,&nbsp;Hong Zou","doi":"10.1002/jcla.25085","DOIUrl":"10.1002/jcla.25085","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study evaluated the performance of the PCR-HRM assay by comparing it with immunohistochemistry (IHC) for mismatch repair (MMR) proteins and the PCR capillary electrophoresis (PCR-CE) methods.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 224 patients with colorectal cancer participated in the study, with nearly half having mismatch repair deficiency (dMMR) tissues and the remainder possessing pMMR tissues. There was a 97.77% concordance between the PCR-HRM assay and IHC, and a 97.56% concordance between PCR-HRM and the PCR-CE assay. In comparison with IHC for dMMR proteins, the PCR-HRM demonstrated a sensitivity of 96.36% and a specificity of 99.12%. When juxtaposed with the PCR-CE assay, its sensitivity was 98.96% and specificity stood at 96.33%. The mutations observed in the microsatellite loci were uniformly distributed across all eight loci. Discrepant outcomes were more frequent in instances of MLH1 and PMS2 deficiency. Furthermore, the germline mutation status of MLH1, MSH2, PMS2, and MSH6 in 62 patients was ascertained using next-generation sequencing. All patients displaying MMR gene pathogenic mutations (<i>N</i> = 14) were identified as MSI-H by PCR-HRM, whereas those with MSS tissues (<i>N</i> = 43) did not exhibit MMR gene pathogenic mutations. Thus, the PCR-HRM method proficiently pinpoints tumors with verified germline MMR mutations, indicative of Lynch syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Conclusively, the PCR-HRM assay emerges as a swift and congruent diagnostic tool for microsatellite instability, boasting commendable sensitivity and specificity in colorectal cancer.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 15-16","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916861","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}
引用次数: 0
Changes in Red Cell Morphology and Haematological Laboratory Parameters Associated With Alectinib 与阿来替尼相关的红细胞形态学和血液学实验室参数的变化
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-08-12 DOI: 10.1002/jcla.25089
Ting Hon Stanford Li, Yin Kwan Jeannie Chik, Ka Yan Ng, Wai Shan Wong
{"title":"Changes in Red Cell Morphology and Haematological Laboratory Parameters Associated With Alectinib","authors":"Ting Hon Stanford Li,&nbsp;Yin Kwan Jeannie Chik,&nbsp;Ka Yan Ng,&nbsp;Wai Shan Wong","doi":"10.1002/jcla.25089","DOIUrl":"10.1002/jcla.25089","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Alectinib is a second-generation anaplastic lymphoma kinase (ALK) inhibitor indicated for ALK-mutated non-small-cell lung cancer. Recently, the association between alectinib and red cell morphological abnormalities has been reported in a few case series. This retrospective observational study aims to determine the frequency of occurrence of acanthocytosis in patients taking alectinib and to evaluate the red cell indices, biochemical markers of haemolysis and eosin-5-maleimide (EMA) binding assay results in patients receiving alectinib.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients who were on alectinib and had a complete blood count test performed in Queen Elizabeth Hospital Haematology Laboratory between 1 May 2021 and 31 August 2021 were included in the study. Haematological investigations that had been performed before and after the commencement of alectinib were reviewed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty patients receiving alectinib were evaluated in this analysis. One hundred per cent of patients showed 3+ acanthocytes on the peripheral blood smears. Compared with the test results before starting alectinib, the post-alectinib blood tests showed a significantly lower haemoglobin concentration, red blood cell count and haematocrit; and a significantly higher mean corpuscular haemoglobin, mean corpuscular haemoglobin concentration and red cell distribution width. All the tested patients showed a marked reduction in EMA mean channel fluorescence compared with normal control.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our cohort revealed that alectinib caused significant acanthocytosis in all patients. Alectinib was also associated with changes in red cell indices and biochemical markers of haemolysis, compatible with a spherocytic and anisopoikilocytic morphology with haemolysis. Patients on alectinib had reduced EMA binding.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 13-14","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25089","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141916862","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}
引用次数: 0
Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico 墨西哥西北部个体中 rs1051338 和 rs116928232 变异的频率。
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-08-06 DOI: 10.1002/jcla.25083
Angélica Alejandra Hernández-Orozco, Lennon Melendez-Aranda, Sandra del Carmen Mendoza-Ruvalcaba, Francisco Javier Perea-Díaz, Jorge J. Cebolla, Pilar Giraldo, Aniel Jessica Leticia Brambila-Tapia, José Elías García-Ortíz
{"title":"Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico","authors":"Angélica Alejandra Hernández-Orozco,&nbsp;Lennon Melendez-Aranda,&nbsp;Sandra del Carmen Mendoza-Ruvalcaba,&nbsp;Francisco Javier Perea-Díaz,&nbsp;Jorge J. Cebolla,&nbsp;Pilar Giraldo,&nbsp;Aniel Jessica Leticia Brambila-Tapia,&nbsp;José Elías García-Ortíz","doi":"10.1002/jcla.25083","DOIUrl":"10.1002/jcla.25083","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>LIPA</i>, situated on chromosome 10q23.2-q23.3, encodes the enzyme lysosomal acid lipase (LAL) (EC 3.1.1.13). Genetic alterations in <i>LIPA</i> lead to lysosomal acid lipase deficiency (LALD), an inborn error causing lipid metabolism anomalies and impairing cholesterol and triacylglyceride degradation. Over 40 <i>LIPA</i> variants have been documented, yet this study focuses on just two. The rs1051338 variant (NM_000235:c.46A&gt;C) affects the signal peptide in Exon 2, whereas rs116928232, located in Exon 8, alters the splice site (NM_000235:c.894G&gt;A), impacting lysosomal acid lipase activity. Considering the diverse clinical manifestations of LALD and the rising hepatic steatosis prevalence in Mexican population, mainly due to diet, these variants were investigated within this demographic to uncover potential contributing factors. This study aimed to reveal the frequency of rs1051338 and rs116928232 among healthy mestizo individuals in Northwest Mexico, marking a significant genetic exploration in this demographic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Three hundred ten healthy mestizo individuals underwent PCR-RFLP analysis for both variants, and Sanger sequencing was performed for variant rs116928232. Bioinformatic analysis was also performed to predict protein changes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Allele frequencies for rs1051338 (FA = 0.39, <i>p</i> value = 0.15) and rs116928232 (FA = 0.0016, <i>p</i> value = 0.49) aligned with reported data, while bioinformatic analysis allowed us to identify the protein alteration observed in both variants; finally, the variants showed no linkage between them (normalized <i>D</i>′ = 1.03, <i>p</i> value = 0.56).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Allelic frequencies closely matched reported data, and protein structure analysis confirmed variant impacts on LAL enzyme function. Notably, this study marks the first analysis of rs1051338 and rs116928232 in a healthy Mexican mestizo population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 13-14","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25083","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141893556","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}
引用次数: 0
Importance of In Vitro Embryo Model Procedure Standardization 体外胚胎模型程序标准化的重要性。
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-07-29 DOI: 10.1002/jcla.25082
Kubilay Doğan Kılıç, Zeynep Simge Yılmaz
{"title":"Importance of In Vitro Embryo Model Procedure Standardization","authors":"Kubilay Doğan Kılıç,&nbsp;Zeynep Simge Yılmaz","doi":"10.1002/jcla.25082","DOIUrl":"10.1002/jcla.25082","url":null,"abstract":"<p>In vivo studies offer a detailed understanding of organism functioning, surpassing the insights provided by in vitro studies. These experiments are crucial for comprehending disease emergence, progression, and associated mechanisms in humans, as well as for developing treatments. When choosing experimental models, factors such as genomic similarity, physiological relevance, ethical appropriateness, and economic feasibility must be considered. Standardized protocols enhance the reliability, and reproducibility of scientific methods, promoting the assessment of research in the scientific literature. Researchers conducting embryo studies should establish and document standardized protocols for increased data comparability. Standardization is vital for scientific validity, reproducibility, and comparability in both in vivo and in vitro studies, ensuring the accuracy and reliability of experimental results and advancing scientific knowledge.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 13-14","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25082","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141788232","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}
引用次数: 0
Unlocking Optimal Glycemic Interpretation: Redefining HbA1c Analysis in Female Patients With Diabetes and Iron-Deficiency Anemia Using Machine Learning Algorithms 解锁最佳血糖解释:利用机器学习算法重新定义糖尿病和缺铁性贫血女性患者的 HbA1c 分析。
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-07-10 DOI: 10.1002/jcla.25087
Kadra Mohamed Abdillahi, Fatma Ceyla Eraldemir, Irfan Kösesoy
{"title":"Unlocking Optimal Glycemic Interpretation: Redefining HbA1c Analysis in Female Patients With Diabetes and Iron-Deficiency Anemia Using Machine Learning Algorithms","authors":"Kadra Mohamed Abdillahi,&nbsp;Fatma Ceyla Eraldemir,&nbsp;Irfan Kösesoy","doi":"10.1002/jcla.25087","DOIUrl":"10.1002/jcla.25087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>In response to the nuanced glycemic challenges faced by women with iron deficiency anemia (IDA) associated with diabetes, this study uses advanced machine learning algorithms to redefine hemoglobin (Hb)A1c measurement values. We aimed to improve the accuracy of glycemic interpretation by recognizing the critical interaction between erythrocytes, iron, and glycemic levels in this specific demographic group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective observational study included 17,526 adult women with HbA1c levels recorded from 2017 to 2022. Samples were classified as diabetic, prediabetic, or non-diabetic based on HbA1c and fasting blood glucose (FBG) levels for distribution analysis without impacting model training. Support Vector Machines, Linear Regression, Random Forest, and K-Nearest Neighbor algorithms as machine learning (ML) methods were used to predict HbA1c levels. Following the training of the model, HbA1c values were predicted for the IDA samples using the trained model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>According to our results, there has been a 0.1 unit change in HbA1c values, which has resulted in a clinical decision change in some patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Using ML to analyze HbA1c results in women with IDA may unveil distinctions among patients whose HbA1c values hover near critical medical decision thresholds. This intersection of technology and laboratory science holds promise for enhancing precision in medical decision-making processes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 13-14","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563454","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}
引用次数: 0
A Study on Associations of Long Noncoding RNA HOTAIR Polymorphisms With Genetic Susceptibility to Chronic Kidney Disease 长非编码 RNA HOTAIR 多态性与慢性肾病遗传易感性的关联研究
IF 2.6 4区 医学
Journal of Clinical Laboratory Analysis Pub Date : 2024-07-03 DOI: 10.1002/jcla.25086
Mahdi Majidpour, Ramin Saravani, Saman Sargazi, Sara Sargazi, Mahdiyeh Harati-Sadegh, Shadi Khorrami, Mohammad Sarhadi, Ali Alidadi
{"title":"A Study on Associations of Long Noncoding RNA HOTAIR Polymorphisms With Genetic Susceptibility to Chronic Kidney Disease","authors":"Mahdi Majidpour,&nbsp;Ramin Saravani,&nbsp;Saman Sargazi,&nbsp;Sara Sargazi,&nbsp;Mahdiyeh Harati-Sadegh,&nbsp;Shadi Khorrami,&nbsp;Mohammad Sarhadi,&nbsp;Ali Alidadi","doi":"10.1002/jcla.25086","DOIUrl":"10.1002/jcla.25086","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The importance of long noncoding RNAs (lncRNAs) in various biological processes has been increasingly recognized in recent years. This study investigated how gene polymorphism in HOX transcript antisense RNA (HOTAIR) lncRNA affects the predisposition to chronic kidney disease (CKD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study comprised 150 patients with CKD and 150 healthy controls. A PCR-RFLP and ARMS-PCR techniques were used for genotyping the five target polymorphisms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>According to our findings, rs4759314 confers strong protection against CKD in allelic, dominant, and codominant heterozygote genetic patterns. Furthermore, rs3816153 decreased CKD risk by 78% when TT versus GG, 55% when GG+GT versus TT, and 74% when GT versus TT+GG. In contrast, the CC+CT genotype [odds ratio (OR) = 1.66, 95% confidence intervals (CIs) = 1.05–2.63] and the T allele (OR = 1.50, 95% CI = 1.06–2.11) of rs12826786, as well as the TT genotype (OR = 2.52, 95% CI = 1.06–5.98) of rs3816153 markedly increased the risk of CKD in the Iranian population. Although no linkage disequilibrium was found between the studied variants, the C<sub>rs12826786</sub>T<sub>rs920778</sub>G<sub>rs1899663</sub>G<sub>rs4759314</sub>G<sub>rs3816153</sub> haplotype was associated with a decreased risk of CKD by 86% (OR = 0.14, 95% CI = 0.03–0.66).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The rs920778 was not correlated with CKD risk, whereas the <i>HOTAIR</i> rs4759314, rs12826786, rs1899663, and rs3816153 polymorphisms affected the risk of CKD in our population. It seems essential to conduct repeated studies across various ethnic groups to explore the link between <i>HOTAIR</i> variants and their impact on the disease outcome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 11-12","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492205","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}
引用次数: 0
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