Clinica Chimica Acta最新文献

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Icteria interference for 34 clinical chemistry analytes on different analytical platforms: Method or analyzer dependent? 不同分析平台上 34 种临床化学分析物的异体干扰:取决于方法还是分析仪?
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-09 DOI: 10.1016/j.cca.2024.119993
Alen Vrtaric, Marijana Miler, Nora Nikolac Gabaj, Valentina Vidranski, Marina Bocan, Petra Filipi, Andrea Snagic, Marija Kocijancic
{"title":"Icteria interference for 34 clinical chemistry analytes on different analytical platforms: Method or analyzer dependent?","authors":"Alen Vrtaric, Marijana Miler, Nora Nikolac Gabaj, Valentina Vidranski, Marina Bocan, Petra Filipi, Andrea Snagic, Marija Kocijancic","doi":"10.1016/j.cca.2024.119993","DOIUrl":"10.1016/j.cca.2024.119993","url":null,"abstract":"<p><strong>Objectives: </strong>In this study, we aimed to investigate the effect of increasing bilirubin concentration on 34 commonly measured clinical chemistry analytes on four different analytical platforms. We hypothesized that differences in icteria interference are not only method dependent, but also analyzer dependent.</p><p><strong>Methods: </strong>Serum pool was prepared using leftover samples after routine laboratory blood testing. Serum pool was then spiked with dissolved bilirubin stock. Measurements were performed on all four locations at the same time. All measurements were done in duplicate. Mean value was calculated as: (value<sub>1</sub> + value<sub>2</sub>)/2. Those values were multiplied by corresponding dilution factors obtained during the preparation of icteric samples. For each icteric sample (I<sub>x</sub>), bias against native (I<sub>0</sub>) sample was calculated as ((value I<sub>x</sub>- valueI<sub>0</sub>)/ valueI<sub>0</sub>) × 100 %. Bias was calculated with actual average values. Obtained bias values were compared against acceptance criteria according to External quality assurance (EQA) providers. Difference in bilirubin concentration across platforms was tested using Friedman ANOVA. P values < 0.05 were considered statistically significant. Data are collected and analyzed in MS Excel 2016 (Microsoft, Redmond, Washington) and MedCalc® Statistical Software version 20.015 (MedCalc Software Ltd, Ostend, Belgium).</p><p><strong>Results: </strong>Many of the tested parameters demonstrated low sensitivity to icterus interference. The highest sensitivity to icterus was observed for triglycerides, cholesterol, and urate.</p><p><strong>Conclusions: </strong>Our results indicate that while some common icteric interferences were consistent across all tested platforms, others were specific to the analyzer used, even when employing the same analytical methods.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Kallmann syndrome: Diagnostics and management. 卡尔曼综合征:诊断和管理。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-09 DOI: 10.1016/j.cca.2024.119994
Rajiv Kumar Yadav, Baiyu Qi, Jianping Wen, Xiaokun Gang, Santasree Banerjee
{"title":"Kallmann syndrome: Diagnostics and management.","authors":"Rajiv Kumar Yadav, Baiyu Qi, Jianping Wen, Xiaokun Gang, Santasree Banerjee","doi":"10.1016/j.cca.2024.119994","DOIUrl":"10.1016/j.cca.2024.119994","url":null,"abstract":"<p><p>Kallmann syndrome is a genetic disorder characterized by delayed or absence of puberty and a reduced or absent sense of smell (anosmia). Kallmann syndrome is a form of hypogonadotropic hypogonadism due to lack of the production of sex hormones which is associated with development of secondary sexual characteristics. Kallmann Syndrome is a genetically heterogeneous disorder, characterized by the combination of hypogonadotropic hypogonadism (a deficiency in sex hormone production) and anosmia. Germline mutations in KAL1 gene causes deficiency in GnRH hormone followed by low level of circulating gonadotropin and testosterone which finally leads to the failure of puberty (development of secondary sexual characters). Kallmann Syndrome can be inherited in several manners including X-linked recessive (e.g., mutations within KAL1) and autosomal dominant and recessive forms. Germline mutation in KAL1 gene was identified among 8% of patients with Kallmann Syndrome. A review of the recent literature done reveals numerous clinical manifestations in Kallmann Syndrome patients with the KAL1 mutation, including microgenitalia, impotence, reduced libido, infertility, unilateral renal agenesis, and synkinesia. Genetic molecular diagnostics through prenatal diagnosis and preimplantation genetic testing are most significant way to reduce the risk of Kallmann syndrome in next generation. Complication associated with Kallmann syndrome can be prevented by early diagnosis, diet supplementation and medical therapy. Goal of therapeutic intervention is to the development of secondary sexual characteristics, build and sustain bone density as well as muscle mass and restore fertility. This review aims to explore the genetic diagnosis and management strategies for Kallmann Syndrome, particularly focusing on KAL1 gene mutations.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Clinical implications of opioid parent-metabolite ratios. 阿片类药物母体-代谢物比率的临床意义。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-08 DOI: 10.1016/j.cca.2024.119995
Hsuan-Chieh Liao, William S Phipps, Michael Keebaugh, Andrew N Hoofnagle, Geoffrey S Baird
{"title":"Clinical implications of opioid parent-metabolite ratios.","authors":"Hsuan-Chieh Liao, William S Phipps, Michael Keebaugh, Andrew N Hoofnagle, Geoffrey S Baird","doi":"10.1016/j.cca.2024.119995","DOIUrl":"https://doi.org/10.1016/j.cca.2024.119995","url":null,"abstract":"<p><strong>Background: </strong>The opioid epidemic has underscored the importance of urine drug testing in the management of chronic pain. However, interpreting test results can be challenging, especially in scenarios where medications may have been directly added to urine samples to simulate compliance.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 9,690 opioid testing results using liquid chromatography-tandem mass spectrometry (LC-MS/MS). The study aimed to define the expected ratios between parent drugs and metabolites for eight commonly prescribed opioids. Cases with a parent-metabolite ratio above the 95th percentile were subjected to chart review.</p><p><strong>Results: </strong>A total of 13 cases appeared likely consistent with simulated compliance with buprenorphine, 2 with methadone, 14 with oxycodone, and one with hydrocodone. The unusual patterns of parent-metabolite ratio can also be associated with hyperacute drug exposures/use, pharmaceutical impurity, or underlying liver enzyme deficiency. Furthermore, patients who failed the decision limits could exhibit other illicit use or aberrant behaviors.</p><p><strong>Conclusion: </strong>Laboratories conducting LC-MS/MS-based opioid testing can more objectively identify anomalies by analyzing parent-metabolite ratios. When in consultation with providers, laboratories can point to these data when suggesting the possibility of simulated compliance and help identify cases warranting further investigation.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing. 通过全外显子组测序鉴定遗传性球形红细胞增多症患者的新型突变。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-06 DOI: 10.1016/j.cca.2024.119989
Li Qin, Yujiao Jia, Haoxu Wang, Yuan Feng, Junyan Zou, Jianfeng Zhou, Changshun Yu, Bingqing Huang, Ruixue Zhang, Lihui Shi, Jigang Xiao, Yuping Zhao, Qi Sun, Zhijian Xiao, Huijun Wang
{"title":"Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.","authors":"Li Qin, Yujiao Jia, Haoxu Wang, Yuan Feng, Junyan Zou, Jianfeng Zhou, Changshun Yu, Bingqing Huang, Ruixue Zhang, Lihui Shi, Jigang Xiao, Yuping Zhao, Qi Sun, Zhijian Xiao, Huijun Wang","doi":"10.1016/j.cca.2024.119989","DOIUrl":"10.1016/j.cca.2024.119989","url":null,"abstract":"<p><p>Defects in erythrocyte membrane proteins can cause the most common type of inherited hemolytic anemia, so called hereditary spherocytosis (HS). It is characterized by the appearance of spherocytes in peripheral blood, hemolytic anemia, splenomegaly, jaundice and gallstones. Due to difficulty of diagnosis solely based on aforementioned parameters, the addition of genetic testing seems to be effective and most acknowledged. Up to date, pathogenic variations in five genes encoding membrane proteins (ANK1, SPTA1, SPTB, SLC4A1, EPB42) are identified to cause HS. Here, we have studied the genetic spectrum in forty-one patients with clinically suspected HS and their families, as well as their genotype-phenotype correlations. Pathogenic mutations in ANK1, SPTB, SLC4A1 and SPTA1 were found in 17 (41.5 %), 12 (29.3 %), 7 (17.1 %) and 5 (12.2 %) patients, respectively. Deleterious variants include 12 missense, 15 nonsense, 12 frameshift, and 4 splicing variants. Among these variations 32 were novel. In our genotype-phenotype analysis, platelet levels in SPTB (p = 0.021) and SLC4A1 (p = 0.02) patients were found to be significantly lower than ANK1 patients. In addition, LDH levels in SPTB patients were remarkably lower than patients with ANK1 mutations (p = 0.025).</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
New practice of BCR::ABL1 standardization system based on p210 and p190 BCR::ABL1 reference materials. 基于 p210 和 p190 BCR::ABL1 参考材料的 BCR::ABL1 标准化系统新实践。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-05 DOI: 10.1016/j.cca.2024.119991
Yu Ma, Yanxi Han, Zhenli Diao, Yuqing Chen, Tao Huang, Lei Feng, Jian Jiang, Yuanfeng Zhang, Jinming Li, Rui Zhang
{"title":"New practice of BCR::ABL1 standardization system based on p210 and p190 BCR::ABL1 reference materials.","authors":"Yu Ma, Yanxi Han, Zhenli Diao, Yuqing Chen, Tao Huang, Lei Feng, Jian Jiang, Yuanfeng Zhang, Jinming Li, Rui Zhang","doi":"10.1016/j.cca.2024.119991","DOIUrl":"https://doi.org/10.1016/j.cca.2024.119991","url":null,"abstract":"<p><p>Quantification of BCR::ABL1 monitors minimal residual disease, thus critical for patient stratification. While significant progress has been made in enhancing the accuracy of p210 BCR::ABL1 quantification, no equivalent standardization has been conducted for p190 BCR::ABL1. Therefore, we developed p190 BCR::ABL1 reference materials to calibrate the quantitative process through an innovative plasmid-based calibration strategy. Then, we further explored the use of p190 and p210 reference materials to standardize tests in 159 laboratories across China and assessed their detection capability utilizing quality assessment samples. Results suggested that after calibration, the coefficient of variation of detection results decreased from 50.8 %-57.4 % to 24.9 %-36.4 % for p190, and from 37.6 %-49.0 % to 19.1 %-28.5 % for p210. The percentage of laboratories within ± 2-fold of the target values increased from 77.1 %, 76.4 %, 73.2 %, and 74.5 % to 94.3 %, 95.5 %, 92.4 %, and 91.1 % for p190 samples 2023S21-2023S24, and from 72.3 %, 86.2 %, 79.2 %, and 81.1 % to 98.1 %, 99.4 %, 98.1 %, and 96.2 % for p210 samples 2023S11-2023S14. Overall, our study successfully developed and employed p190 and p210 reference materials to promote accuracy and comparability of BCR::ABL1 quantification among laboratories.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Carbohydrate antigens Lewis a and Lewis b act as tumor markers cooperating with CA19.9 in the management of PDAC patients. 碳水化合物抗原 Lewis a 和 Lewis b 可作为肿瘤标记物,与 CA19.9 配合用于 PDAC 患者的治疗。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-04 DOI: 10.1016/j.cca.2024.119990
Rossella Indellicato, Michele Dei Cas, Aida Zulueta, Anna Caretti, Delfina Tosi, Claudia Cigala, Gaetano Bulfamante, Enrico De Nicola, Giovanna Scifo, Enrico Opocher, Daniela Pistillo, Gennaro Nappo, Alessandro Zerbi, Marco Trinchera
{"title":"Carbohydrate antigens Lewis a and Lewis b act as tumor markers cooperating with CA19.9 in the management of PDAC patients.","authors":"Rossella Indellicato, Michele Dei Cas, Aida Zulueta, Anna Caretti, Delfina Tosi, Claudia Cigala, Gaetano Bulfamante, Enrico De Nicola, Giovanna Scifo, Enrico Opocher, Daniela Pistillo, Gennaro Nappo, Alessandro Zerbi, Marco Trinchera","doi":"10.1016/j.cca.2024.119990","DOIUrl":"10.1016/j.cca.2024.119990","url":null,"abstract":"<p><strong>Background: </strong>CA19.9 is the unique marker recommended for the preoperative staging and the follow-up of patients suffering from pancreatic ductal adenocarcinoma (PDAC) but up to 30% of PDAC patients maintain normal CA19.9 values and cannot be monitored in this way. Lewis a (Lea Galβ1,3[Fucα1,4]GlcNAc) and b (Leb, Fucα1,2Galβ1,3[Fucα1,4]GlcNAc) are antigens which are structurally similar to sialyl-Lewis a (Siaα2,3Galβ1,3[Fucα1,4]GlcNAc), the epitope of CA19.9.</p><p><strong>Methods: </strong>We set an ELISA procedure determining the levels of Lea, Leb, and CA19.9 in the blood of healthy individuals or PDAC patients. Moreover, such antigens were also detected in cancer resections by immunofluorescence microscopy, and the levels of glycosyltransferase transcripts involved in Lewis antigen biosynthesis were determined by RT-qPCR.</p><p><strong>Results: </strong>In our cohort of 116 healthy individuals, the distribution of circulating Lea and Leb was similar to that of CA19.9, allowing us to set putative cutoff values for both antigens. In a cohort of 115 PDAC patients, the differential distribution with respect to the controls was statistically significant for both antigens (p < 0.001). Out of 37 patients presenting normal CA19.9 values, 15 patients presented Lea or Leb above the cutoffs. By immunofluorescence, Lea, Leb and CA19.9 were all detected in cancer resections and expression levels were heterogeneous among patients in terms of intensity, localization and diffusion. The levels of relevant glycosyltransferase transcripts were found to be heterogeneous between cancers of different patients and no association was detectable with the levels of any circulating antigen.</p><p><strong>Conclusions: </strong>The concurrent quantification of Lea and Leb together with CA19.9 improves the management of PDAC patients.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
MUC16/CA125 in cancer: new advances. 癌症中的 MUC16/CA125:新进展
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-04 DOI: 10.1016/j.cca.2024.119981
Xin-Yu Zhang, Lian-Lian Hong, Zhi-Qiang Ling
{"title":"MUC16/CA125 in cancer: new advances.","authors":"Xin-Yu Zhang, Lian-Lian Hong, Zhi-Qiang Ling","doi":"10.1016/j.cca.2024.119981","DOIUrl":"10.1016/j.cca.2024.119981","url":null,"abstract":"<p><p>MUC16/CA125 is a common diagnostic marker for many types of cancer. However, due to the widespread expression of MUC16 in cancer, its specificity and sensitivity as a target are poor, which severely limits its clinical application. In recent years, various studies have shown that the clinical application potential of MUC16/CA125 has been greatly improved. The update of detection technology improves the accuracy and range of detection, and improves the early diagnosis rate of cancer. Targeting MUC16/CA125 is an important strategy for tumor therapy. Targeting residual amino acids, n-glycoylation structures or other targets on the surface of MUC16 cells can greatly improve the accuracy of detection and therapy. The new drug delivery method broke through the original technical shackles, targeted MUC16 positive cells more specifically and improved the drug efficacy. In this paper, the technological advances in detecting and identifying MUC16 targets and the great progress in cancer screening and treatment based on MUC16 as a target are described in detail, revealing the great potential of MUC16 as a target in cancer screening and treatment, and illustrating the potential clinical application value of MUC16.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Tandem mass spectrometry-based assay for heparan-N-sulphatase in paediatric CSF: A potential pharmacodynamic biomarker for mucopolysaccharidosis type IIIA therapy. 基于串联质谱法的儿科脑脊液中肝素-N-硫酸酯酶测定:治疗黏多醣症IIIA型的潜在药效学生物标记物。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-03 DOI: 10.1016/j.cca.2024.119987
Roberto Speziale, Michaël Hocquemiller, Xin Mei, Danilo Fabbrini, Savina Malancona, Karen Aiach, Ralph Laufer, Laura Orsatti
{"title":"Tandem mass spectrometry-based assay for heparan-N-sulphatase in paediatric CSF: A potential pharmacodynamic biomarker for mucopolysaccharidosis type IIIA therapy.","authors":"Roberto Speziale, Michaël Hocquemiller, Xin Mei, Danilo Fabbrini, Savina Malancona, Karen Aiach, Ralph Laufer, Laura Orsatti","doi":"10.1016/j.cca.2024.119987","DOIUrl":"https://doi.org/10.1016/j.cca.2024.119987","url":null,"abstract":"<p><p>Mucopolysaccharidosis type IIIA is a lysosomal storage disorder caused by mutations in the gene coding for heparan-N-sulphatase, a crucial enzyme in the degradation of heparan sulfate. In mucopolysaccharidosis type IIIA, heparan sulfate accumulates in the lysosomes, predominantly affecting the central nervous system. It is the most common and most severe form of mucopolysaccharidosis type III, with onset typically before the age of ten years. There is an ongoing effort to develop therapies that aim at restoring enzyme function in the brain. This study introduces a novel tandem mass spectrometry method for assessing heparan-N-sulphatase activity in pediatric cerebrospinal fluid from healthy and disease individuals. Analysis of cerebrospinal fluid samples revealed marked differences in enzyme activity, with mucopolysaccharidosis type IIIA individuals exhibiting significantly reduced levels. This new method could serve as a valuable tool for evaluating the efficacy of future therapeutic interventions targeting sulphatase activity restoration in the brain.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Benign prostatic hyperplasia genetic variants in Asians. 亚洲人的良性前列腺增生基因变异。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-03 DOI: 10.1016/j.cca.2024.119986
Muhammad Mahbubi Sani, Yudhistira Pradnyan Kloping, Fakhri Surahmad
{"title":"Benign prostatic hyperplasia genetic variants in Asians.","authors":"Muhammad Mahbubi Sani, Yudhistira Pradnyan Kloping, Fakhri Surahmad","doi":"10.1016/j.cca.2024.119986","DOIUrl":"10.1016/j.cca.2024.119986","url":null,"abstract":"<p><p>The global prevalence of benign prostatic hyperplasia (BPH) is increasing annually, with a notably higher incidence in Asian populations. This condition can increase the risk of developing prostate cancer 2- to 12-fold, underscoring the critical need for comprehensive clinical guidelines and appropriate risk stratification testing. This review is the first to address the gap by focusing on genetic screening for risk stratification in Asians, followed by the development of pathophysiology based on the genetic variants identified. For example, the CYP17 gene, which plays a crucial role in testosterone synthesis and BPH progression, includes the CYP17 rs743572 C allele, a genetic variant that increases the risk of BPH by 1.58 times in Asians. Identifying such genetic variants can enable the tailoring of therapies to individual genetic profiles. Furthermore, this review provides new insights into the pathophysiology of BPH, suggesting that ethnicity may play a role in its progression, and explores genetic links between BPH and other diseases traditionally considered risk factors for BPH.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Exosomal ncRNAs in liquid biopsies for lung cancer. 肺癌液体活检中的外泌体 ncRNA。
IF 3.2 3区 医学
Clinica Chimica Acta Pub Date : 2024-10-03 DOI: 10.1016/j.cca.2024.119983
Md Sadique Hussain, Gaurav Gupta, Nehmat Ghaboura, Ehssan Moglad, Waleed Hassan Almalki, Sami I Alzarea, Imran Kazmi, Haider Ali, Ronan MacLoughlin, Raimar Loebenberg, Neal M Davies, Sachin Kumar Singh, Kamal Dua
{"title":"Exosomal ncRNAs in liquid biopsies for lung cancer.","authors":"Md Sadique Hussain, Gaurav Gupta, Nehmat Ghaboura, Ehssan Moglad, Waleed Hassan Almalki, Sami I Alzarea, Imran Kazmi, Haider Ali, Ronan MacLoughlin, Raimar Loebenberg, Neal M Davies, Sachin Kumar Singh, Kamal Dua","doi":"10.1016/j.cca.2024.119983","DOIUrl":"10.1016/j.cca.2024.119983","url":null,"abstract":"<p><p>Exosomal non-coding RNAs (ncRNAs) have become essential contributors to advancing and treating lung cancers (LCs). The development of liquid biopsies that utilize exosomal ncRNAs (exo-ncRNAs) offers an encouraging method for diagnosing, predicting, and treating LC. This thorough overview examines the dual function of exo-ncRNAs as both indicators for early diagnosis and avenues for LC treatment. Exosomes are tiny vesicles secreted by various cells, including cancerous cells, enabling connection between cells by delivering ncRNAs. These ncRNAs, which encompass circular RNAs, long ncRNAs, and microRNAs, participate in the modulation of gene expression and cellular functions. In LC, certain exo-ncRNAs are linked to tumour advancement, spread, and treatment resistance, positioning them as promising non-invasive indicators in liquid biopsies. Additionally, targeting these ncRNAs offers potential for innovative treatment approaches, whether by suppressing harmful ncRNAs or reinstating the activity of tumour-suppressing ones. This review emphasizes recent developments in the extraction and analysis of exo-ncRNAs, their practical applications in LC treatment, and the challenges and prospects for translating these discoveries into clinical usage. Through this detailed examination of the current state of the art, we aim to highlight the significant potential of exo-ncRNAs for LC diagnostics and treatments.</p>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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