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Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-13 Essa M. Sabi, Maha AlMogren, Rajaa Sebaa, Khalid M. Sumaily, Reem AlMalki, Ahmad Mujammami, Anas Abdel Rahman
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to glutaryl coenzyme A dehydrogenase deficiency, causing elevated levels of glutaryl-CoA and its derivatives. GA-1 exhibits symptoms like macrocephaly, developmental delays, and movement disorders. Timely diagnosis through genetic testing and newborn screening is crucial. However, in some cases, transiently elevated level of glutarylcarnitine
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Identification of potential serum biomarkers associated with HbA1c levels in Indian type 2 diabetic subjects using NMR-based metabolomics Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-13 Saleem Yousf, Hitender S. Batra, Rakesh M. Jha, Devika M. Sardesai, Kalyani Ananthamohan, Jeetender Chugh, Shilpy Sharma
The prevalence of type 2 diabetes mellitus (T2DM), a progressive metabolic disorder characterized by chronic hyperglycemia and the development of insulin resistance, has increased globally, with worrying statistics coming from children, adolescents, and young adults from developing countries like India. Here, we investigated unique circulating metabolic signatures associated with prediabetes and T2DM
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Epigenetics of Diabetes: A bioinformatic approach Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-13 Sulistyo Emantoko Dwi Putra, Farizky Martriano Humardani, Yulanda Antonius, Jonathan Jonathan, Lisa Thalia Mulyanata
The adaptability of epigenetics offers a compelling research avenue, notably in the context of Type 2 Diabetes Mellitus (T2DM) biomarkers and provides a nuanced approach to managing biological systems for diagnosis. However, challenges such as DNA degradation during methylation studies are prominent, especially with cell-free DNA (cfDNA) which is present in small quantities in plasma, calling for innovative
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A novel method for simultaneous detection of hematological tumors and infectious pathogens by metagenomic next generation sequencing of plasma Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-12 Pingping Song, Yaxian Tian, Shuai Chen, Sheng Zhang, Xuan Li, Zhiqing You, Juanjuan Fu, Wenbin Xu, Zhen Li, Jing Luan, Qigang Zhao, Chengtan Wang, Feng Pang
Metagenomic next-generation sequencing (mNGS) is valuable for pathogen identification; however, distinguishing between infectious diseases and conditions with potentially similar clinical manifestations, including malignant tumors, is challenging. Therefore, we developed a method for simultaneous detection of infectious pathogens and cancer in blood samples. Plasma samples (n = 244) were collected
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Body fluid contamination in the context of an adverse analytical finding in doping: About a case involving ostarine Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-11 Jean-Claude Alvarez, Isabelle Etting, Islam Amine Larabi
Ostarine, also known as MK-2866 or enobosarm, is a selective androgen receptor modulator (SARM). It has anabolic properties and as such is widely used in doping, accounting in 2021 for 25 % of the adverse analytical findings (AAF) among the class S1.2 “Other anabolic agents” of products banned by the World Anti-Doping Agency, to which it belongs. But in some cases, it can be responsible for an AAF
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A comprehensive Exdia TRF-LFIA for simultaneous quantification of GFAP and NT-proBNP in distinguishing ischemic and hemorrhagic stroke Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-11 Minki Lee, Danishmalik Rafiq Sayyed, Hyejeong Kim, Jean-Charles Sanchez, Sung Sik Hong, Sehee Choi, Hyunghoon Kim, Eunhee Han, Hye Won Kang, Jeong Min Kim, Montaner Joan, Hanshin Kim, Hyojin Chae, Jong-Myeon Park
The goal of this study is to create a highly sensitive time-resolved fluorescence lateral flow immunoassay (TRF-LFIA) capable of concurrently measuring glial fibrillary acidic protein (GFAP) and the N-terminal fragment of B-type natriuretic peptide precursor (NT-proBNP). This assay is designed as a diagnostic tool and aims to provide an algorithm for stroke management, specifically for distinguishing
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The biological variation of serum 1,25-dihydroxyvitamin D and parathyroid hormone, and plasma fibroblast growth factor 23 in healthy individuals Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-11 Francesca Iannone, Elvira Angotti, Fortunata Lucia, Luisa Martino, Giulio Cesare Antico, Francesco Galato, Ilenia Aversa, Raffaella Gallo, Caterina Giordano, Antonio Abatino, Serafina Mancuso, Lorenza Giaquinto Carinci, Maria Martucci, Consuelo Teti, Francesco Costanzo, Giovanni Cuda, Camillo Palmieri
Measuring 1,25-dihydroxyvitamin D (1,25(OH)D), parathyroid hormone 1–84 (PTH 1–84) and intact FGF23 (iFGF23) is crucial for diagnosing a variety of diseases affecting bone and mineral homeostasis. Biological variability (BV) data are important for defining analytical quality specifications (APS), the usefulness of reference intervals, and the significance of variations in serial measurements in the
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External quality assessment for molecular detection of Ureaplasma urealyticum in China Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-09 Yanxi Han, Jian Jiang, Yu Ma, Yuqing Chen, Zhenli Diao, Tao Huang, Jing Li, Wanyu Feng, Ziqiang Li, Jinming Li, Rui Zhang
A pilot external quality assessment (EQA) scheme for molecular detection of (UU) was conducted by the National Center for Clinical Laboratories (NCCL) to evaluate the testing capabilities of clinical laboratories and the actual performance of DNA-based nucleic acid amplification tests (NAAT) and RNA-based NAATs when applied in clinical settings. The EQA panel contained twelve lyophilized samples, including
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A comparative evaluation of low-density lipoprotein cholesterol estimation: Machine learning algorithms versus various equations Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-09 Esra Paydaş Hataysal, Muslu Kazım Körez, Fatih Yeşildal, Ferruh Kemal İşman
Given the critical importance of Low-density lipoprotein cholesterol (LDL-C) levels in determining cardiovascular risk, it is essential to measure LDL-C accurately. Since the Friedewald formula generates incorrect predictions in many circumstances, new equations have been developed to overcome the Friedewald equations' shortcomings. This study aimed to compare estimated LDL-C with directly measured
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Clinical implications of inaccurate potassium determination in hemolyzed pediatric blood specimens Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-07 Dennis J. Dietzen, Ronald Jackups, Mark A. Zaydman
Analysis of whole blood specimens is rapid and saves blood, but hemolysis may go undetected and compromise the accuracy of potassium measurement. We aimed to define the frequency and magnitude of error in whole blood potassium measurement. 34 months of whole blood and plasma potassium data were extracted from patients aged less than 2 years at the time of sample acquisition. Hemolysis was detected
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Breast cancer stem cells as novel biomarkers Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-05 Suman Kumar Ray, Sukhes Mukherjee
Breast cancer is the most common cancer and the leading cause of mortality worldwide. Despite advancements in detection and treatment, it remains a major cause of cancer-related deaths in women. Breast cancer stem cells (BCSCs) are a crucial group of cells responsible for carcinogenesis, metastasis, medication resistance, and tumor recurrence. Identifying and understanding their molecular pathways
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Machine learning reveals serum myristic acid, palmitic acid and heptanoylcarnitine as biomarkers of coronary artery disease risk in patients with type 2 diabetes mellitus Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-02 Ting Hu, Wen Zhang, Feifei Han, Rui Zhao, Hongchuan Liu, Zhuoling An
Coronary heart disease (CHD) is the most important complication of type 2 diabetes mellitus (T2DM) and the leading cause of death. Identifying the risk of CHD in T2DM patients is important for early clinical intervention. A total of 213 participants, including 81 healthy controls (HCs), 69 T2DM patients and 63 T2DM patients complicated with CHD were recruited in this study. Serum metabolomics were
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Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients Clin. Chim. Acta (IF 5.0) Pub Date : 2024-03-02 Yan Ouyang, Wei Zhang, Zhanzheng Zhao, Chaohui Wang, Hong Ren, Jingyuan Xie, Xiao Li, Pingyan Shen, Hao Shi, Jing Xu, Yaowen Xu, Weiming Wang, Li Yang, Xialian Yu, Weihong Chen, YaWen Zhao, Zheng Wang, YiFan Wu, Nan Chen, XiaoXia Pan
Kidney damage is common in patients with Fabry disease (FD), but more accurate information about the risk of progression to kidney failure is needed for clinical decision-making. In particular, FD patients with mild renal involvement often lack timely intervention and treatment. We aimed to utilize a model to predict the risk of renal progression in FD patients. Between November 2011 and November 2019
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Metabolomics of male infertility Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-29 Amos Victor Oluwaloseyi, Odeyemi Aduragbemi Noah, Ajayi Lydia Oluwatoyin, Yusuff Gaffar, Olotu Moses, Akano Oyedayo Phillips, Moyinoluwa Comfort Onaolapo, Bolade Sylvester Olateju, Adelakun Ademola Ayodele, Oyowvi Mega Obukohwo, Ajayi Ayodeji Folorunsho
This review explores the use of metabolomics in male infertility. Metabolomics, an evolving omics technology that targets the products of cellular metabolism, is valuable for elucidating underlying pathophysiology of many disorders including male infertility. The identification of reliable biomarkers is essential for accurate diagnosis and for developing precision therapeutics for those afflicted by
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Corrigendum to “Diagnosis of invasive non-functional pituitary adenomas using exosomal biomarkers” [Clinica Chimica Acta. 529 (2022) 25–33/(PMID: 35085587)] Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-28 Yuan Ren, Ying Wang, Xinjie Bao, Ming Feng, Bing Xing, Wei Lian, Yong Yao, Renzhi Wang
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Exosomal non-coding RNAs in colorectal cancer metastasis Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-28 Xiaoqian Yu, Chiwen Bu, Xuejie Yang, Wenying Jiang, Xiaoyun He, Ru Sun, Hongbin Guo, Li Shang, Chunlin Ou
Exosome ncRNAs can be used as non-invasive biomarkers and therapeutic targets for CRC metastasis. (A) Dysregulated exosome ncRNAs extracted from patients can be used as diagnostic markers for CRC metastasis. (B) Dysregulated exosomal ncRNAs can be used as biomarkers to monitor prognosis and recurrence in patients with CRC metastasis. (C) Dysregulated exosomal ncRNAs identified in and studies can be
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New approach for early and specific Alzheimer disease diagnosis from different plasma biomarkers Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-28 Anabel Forte, Sergio Lara, Carmen Peña-Bautista, Miguel Baquero, Consuelo Cháfer-Pericás
Alzheimer Disease (AD) is a complex pathology, in which several biochemical pathways could be involved. Therefore, the development of clinical studies combining different nature biomarkers in an AD diagnosis approach is required. Specifically, the present study evaluated blood biomarkers from different molecular pathways (epigenomics, lipid metabolism, lipid peroxidation), to obtain an early and specific
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Familial hypercholesterolemia with special focus on Japan Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-27 Junji Kobayashi, Takuya Minamizuka, Hayato Tada, Koutaro Yokote
Familial hypercholesterolemia (FH) is an inherited disorder characterized by increased low-density lipoprotein LDL) cholesterol and atherosclerotic cardiovascular disease. Although initial genetic analysis linked FH to LDL receptor mutations, subsequent work demonstrated that a gain-of-function mutation in the proprotein convertase subtilisin/kexin type 9 (PCSK9), which causes LDL-R degradation, was
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Cerebrospinal fluid protein biomarkers in Parkinson's disease Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-27 Mohd Faizan, Nidhi Sachan, Oyashvi Verma, Alika Sarkar, Neeraj Rawat, Mahendra Pratap Singh
Proteomic profiling is an effective way to identify biomarkers for Parkinson’s disease (PD). Cerebrospinal fluid (CSF) has direct connectivity with the brain and could be a source of finding biomarkers and their clinical implications. Comparative proteomic profiling has shown that a group of differentially displayed proteins exist. The studies performed using conventional and classical tools also supported
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New reference limits for cardiac troponin T and N-terminal b-type natriuretic propeptide in elders Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-23 Elisa Heikkilä, Taina Katajamäki, Marika Salminen, Kerttu Irjala, Anna Viljanen, Marja-Kaisa Koivula, Kari Pulkki, Raimo Isoaho, Sirkka-Liisa Kivelä, Matti Viitanen, Minna Löppönen, Tero Vahlberg, Laura Viikari
Our aim was to define reference limits for cardiac troponin T (cTnT) and N-terminal pro B-type natriuretic peptide (proBNP) that would better reflect their concentrations in older people. In addition, the incidence of acute myocardial infarctions (AMIs) was studied using these reference limits in an older population with and without previous heart diseases. A population-based study with a ten-year
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Metabolic profiling in tissues and urine of patients with prostatic lesions and the diagnostic value of urine extracellular vesicles metabolites in prostate cancer Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-23 Ting Ding, Weixiang He, Hua Yan, Zhen Wei, Xianfei Zeng, Xiaoke Hao
Prostate cancer (PCa) lacks convenient and highly specific diagnostic markers. Although the value of extracellular vesicles (EV) in oncology is widely recognized, the diagnostic value of EV metabolites requires further exploration. This study aimed to explore the diagnostic value of urine EV (u-EV) metabolomics in PCa. We first detected metabolites in paired tissues cells (cells), tissue EV (t-EVs)
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Microfluidics as diagnostic tools Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-22 Avanthika Satish Kumar, Sneha Venkatesalu, Shanmugapriya Dilliyappan, Ajay Prakash Pasupulla, Lavanya Prathap, Thirunavukkarasu Palaniyandi, Gomathy Baskar, Maddaly Ravi, Abimanyu Sugumaran
The challenges in the management of human diseases are largely determined by the precision, speed and ease of diagnostic procedures available. Developments in biomedical engineering technologies have greatly helped in transforming human health care, especially for disease diagnosis which in turn lead to better patient outcomes. One such development is in the form of microfluidic chip technology which
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Potential biomarkers of acute myocardial infarction based on the composition of the blood microbiome Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-21 Rishou Chen, Yonglong Ye, Yali Ding, Zhidong Wan, Xinyu Ye, Jun Liu
It is difficult to distinguish between acute myocardial infarction (AMI) and unstable angina (UA) due to their similar clinical features. In recent years, studies have shown that microbiomes have great potential in distinguishing diseases. The purpose of this study is to describe the composition of serum microbiome in the AMI and UA by 16S rDNA sequencing. Based on the high-throughput detection platform
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Volatile organic compounds for diagnosis of early hepatocellular carcinoma in at-risk patients Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-18 Thanikan Sukaram, Rossarin Tansawat, Chonlada Phathong, Rungsun Rerknimitr, Roongruedee Chaiteerakij
Volatile organic compounds (VOCs) have been shown as promising biomarkers for hepatocellular carcinoma (HCC) diagnosis. We aimed to investigate the performance of VOCs for diagnosing early-stage HCC in patients at-risk for HCC. VOCs were identified in exhaled breath samples collected from 87 early-stage HCC patients, 90 cirrhotic patients, and 72 HBV-infected patients using thermal desorption-gas
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Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-13 HariOm Singh, Shyamveer, Supriya D. Mahajan, Ravikumar Aalinkeel, Kathiravan Kaliyappan, Stanley A Schwartz, Meenakshi Bhattacharya, Mohammad Khalid Parvez, Mohammed S. Al-Dosari
Protease inhibitors (PIs) are associated with an incidence of lipodystrophy among people living with HIV(PLHIV). Lipodystrophiesare characterised by the loss of adipose tissue. Evidence suggests that a patient's lipodystrophy phenotype is influenced by genetic mutation, age, gender, and environmental and genetic factors, such as single-nucleotide variants (SNVs). Pathogenic variants are considered
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MicroRNA biosensors for detection of glioblastoma Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-13 Mehdi Fattahi, Mohadese Maghsudlu, Masoumeh Razipour, Ahmad Movahedpour, Mohsen Ghadami, Mehdi Alizadeh, Seyyed Hossein Khatami, Mortaza Taheri-Anganeh, Ehsan Ghasemi, Hassan Ghasemi, Saleh Aiiashi, Elham Ghadami
Glioblastoma (GBM) is the most common type of malignant brain tumor.The discovery of microRNAs and their unique properties have made them suitable tools as biomarkers for cancer diagnosis, prognosis, and evaluation of therapeutic response using different types of nanomaterials as sensitive and specific biosensors. In this review, we discuss microRNA-based electrochemical biosensing systems and the
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High-throughput omics technologies in inflammatory bowel disease Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-13 Chen Xu, Jing Shao
Inflammatory bowel disease (IBD) is a chronic, relapsing intestinal disease. Elucidation of the pathogenic mechanisms of IBD requires high-throughput technologies (HTTs) to effectively obtain and analyze large amounts of data. Recently, HTTs have been widely used in IBD, including genomics, transcriptomics, proteomics, microbiomics, metabolomics and single-cell sequencing. When combined with endoscopy
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Profiling of aberrant sialylated N-glycans in hepatocellular carcinoma by liquid chromatography mass spectrometry Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-11 Lijia Zhu, Shengsi Zou, Dan Yao, Juan Li, Yinran Xiong, Qiong Wu, Yiping Du, Junxue Wang, Ting Wu, Bo Wei
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The European biological variation study (EuBIVAS): Biological variation data for testosterone, follicle stimulating hormone, prolactin, luteinizing hormone and dehydroepiandrosterone sulfate in men Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-09 Outi Itkonen, Niels Jonker, Aasne K. Aarsand, Sverre Sandberg, Jorge Diaz-Garzon, Pilar Fernandez–Calle, Abdurrahman Coskun, William A. Bartlett, Massimo Locatelli, Anna Carobene
Knowledge of biological variation (BV) of hormones is essential for interpretation of laboratory tests and for diagnostics of endocrinological and reproductive diseases. There is a lack of robust BV data for many hormones in men. We used serum samples collected weekly over 10 weeks from the European Biological Variation Study (EuBIVAS) to determine BV of testosterone, follicle-stimulating hormone (FSH)
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A landscape of metabolic variation among clinical outcomes of peritoneal dialysis in end-stage renal disease Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-09 Ting Yang, Bangbang Wei, Jing Liu, Xinxin Si, Lulu Wang, Chunming Jiang
Peritoneal dialysis (PD) helps prevent lethal complications of end-stage renal disease (ESRD). However, the clinical outcomes are affected by PD-related complications. We investigated metabolic biomarkers to estimate the clinical outcomes of PD and identify patients at high risk of downstream complications and recurrent/relapsing infections. Metabolites of normal control and ESRD patient were compared
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Asymptomatic elevation of parathyroid hormone levels by antibodies against reagent alkaline phosphatase Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-09 Danchen Wang, Yicong Yin, Jin Cheng, Yingying Hu, Wei Su, Wei Ji, Xinqi Cheng, Songlin Yu, Ling Qiu
Although immunoassay interference is a well-known phenomenon, its detection in routine clinical practice remains challenging. Most immunoassay interference can be attributed to the presence of heterophilic or anti-hormone antibodies. However, reports on immunoassay interference specifically related to parathyroid hormone (PTH) are scarce. PTH was falsely evaluated due to anti-bovine ALP antibodies
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An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-08 Yanan Wang, Lina Hu, Yuqiong Chai, Xiaofei Liu
Trisomy 8 syndrome, also known as “ Warkany syndrome type 2 ”, was first reported in 1971. Complete trisomy 8 are mostly aborted spontaneouslyinthe first trimester. Trisomy 8 mosaicism (T8M), predominated in the current cases reported. Itisahighlyheterogeneous Chromosome disorder. We know little about its effects on fertility. In this case, a patient with T8M combined with phenylketonuria was diagnosed
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Identification of molecular markers for predicting the severity of heart failure after AMI: An Olink precision proteomic study Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-06 Tianxing Zhang, Xuexue Han, Hao Zhang, Xue Li, Xingzhu Zhou, Shuhui Feng, Chenglong Guo, Fei Song, Tianqi Tao, Chunlin Yin, Jinggang Xia
Acute myocardial infarction (AMI) still has a high incidence of varying degrees of heart failure (HF). The aim of this study is to identify new molecular markers for predicting the severity of HF after AMI. We analyzed demographic indicators, past medical history, clinical indicators, major adverse cardiac events (MACEs) and molecular markers in patients with different Killip classifications after
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Metabolomics and lipidomics in non-small cell lung cancer Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-05 Wei Shi, Yizhen Cheng, Haihua Zhu, Longshan Zhao
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Molecular characterization and functional roles of circulating cell-free extrachromosomal circular DNA Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-05 Dandan Li, Xia Qian, Yingjie Wang, Yicong Yin, Huishan Sun, Haitao Zhao, Jie Wu, Ling Qiu
Circular DNA segments isolated from chromosomes are known as extrachromosomal circular DNA (eccDNA). Its distinct structure and characteristics, along with the variations observed in different disease states, makes it a promising biomarker. Recent studies have revealed the presence of eccDNAs in body fluids, indicating their involvement in various biological functions. This finding opens up avenues
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Lipidomic profiles in serum and urine in children with steroid sensitive nephrotic syndrome Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-03 Lidan Hu, Zhaoyang Peng, Guannan Bai, Haidong Fu, Danny Junyi Tan, Jingjing Wang, Wei Li, Zhongkai Cao, Guoping Huang, Fei Liu, Yi Xie, Li Lin, Jingmiao Sun, Langping Gao, Yixuan Chen, Ruihan Zhu, Jianhua Mao
Steroid-sensitive nephrotic syndrome (SSNS) accounts for approximately 80% of cases of nephrotic syndrome. The involvement of aberrant lipid metabolism in early SSNS is poorly understood, warranting further investigation. This study aimed to explore alterations in lipid metabolism associated with SSNS pathogenesis. A screening cohort containing serum (50 SSNS, 37 controls) and urine samples (27 SSNS
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Prostate cancer: Novel genetic and immunologic biomarkers Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-03 Mohammad Samare-Najaf, Hosein Kouchaki, Seyed Moein Mahini, Masoumeh Saberi Rounkian, Yasaman Tavakoli, Ali Samareh, Mohammad Karim Azadbakht, Navid Jamali
Prostate cancer (PCa) is considered one of the most prevalent male malignancies worldwide with a global burden estimated to increase over the next two decades. Due to significant mortality and debilitation of survival, early diagnosis has been described as key. Unfortunately, current diagnostic serum-based strategies have low specificity and sensitivity. Histologic examination is invasive and not useful
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Performance of the digital cell morphology analyzer MC-100i in a multicenter study in tertiary hospitals in China Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-29 Hong Jiang, Wei Xu, Wei Chen, Jun He, Haoqin Jiang, Zhigang Mao, Min Liu, Mianyang Li, Dandan Liu, Yuling Pan, Chenxue Qu, Linlin Qu, Ziyong Sun, Dehua Sun, Xuefeng Wang, Jianbiao Wang, Wenjing Wu, Ying Xing, Shihong Zhang, Chi Zhang, Ming Guan
Background This study investigated the performance of the MC-100i, a pre-commercial digital morphology analyzer utilizing a convolutional neural network algorithm, in a multicentric setting involving up to 11 tertiary hospitals in China. Methods Blood smears were analyzed by MC-100i, verified by morphologists, and manually differentiated. The classification performance on WBCs and RBCs was evaluated
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Recommendations on the measurement and use of the alcohol consumption biomarker CDT. A position paper from the IFCC Working Group on CDT standardisation Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-02 J.P.M. Wielders, N.M. Porpiglia, F. Schellenberg, J. Deenmamode, J. Delanghe, R.F. Anton, F. Bortolotti, C. Siebelder, F. Tagliaro, C. Weykamp, A. Helander
Background Carbohydrate deficient transferrin (CDT) is a biomarker for excessive alcohol consumption utilized in clinical and forensic medicine and workplace testing. Previously, many different analytical methods for CDT were used and the measurand varied considerably, making direct comparison of test results difficult. To end this confusion, the IFCC established a working group on CDT standardisation
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Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-02 Murat Gülşen, Ahmet Cevdet Ceylan, Taha Bahsi, Hikmet Can Çubukçu, Onur Burak Dursun
It is crucial to start early treatment in Spinal Muscular Atrophy (SMA) with available drugs to stop the progression of the disease, therefore making SMA screening preferable. This study assessed Quantitative Real-Time Polymerase Chain Reaction (qRT-PCR) compared to Multiplex Ligation-dependent Probe Amplification (MLPA) for detecting Spinal Muscular Atrophy (SMA) through SMN1 gene copy number analysis
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Metabolomics study reveals blood biomarkers for early diagnosis of chronic kidney disease and IgA nephropathy: A retrospective cross-sectional study Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-01 Xian Fu, Zhi-Xiao Luo, Hou-Hua Yin, Ya-Nan Liu, Xiao-Gang Du, Wei Cheng, Jun-Yan Liu
Chronic kidney disease (CKD) causes low quality of life and alarming morbidity and mortality. The crucial to retard CKD progression is to diagnose early for timely treatment. IgA nephropathy (IgAN) is a typical CKD and the most common glomerulonephritis. Both CKD and IgAN lack accurate and sensitive blood biomarkers for early diagnosis. Here we report the potential of plasma biomarkers for early diagnosis
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Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-01 Ruixue Zhang, Di Cui, Chengrong Song, Xiaoping Ma, Na Cai, Yan Zhang, Mei Feng, Yanlin Cao, Libao Chen, Rong Qiang
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders predominantly characterized by impaired corticosteroid synthesis. Clinical phenotypes include hypoadrenocorticism, electrolyte disturbances, abnormal gonadal development, and short stature, of which severe hyponadrenocorticism and salt wasting can be life-threatening. Genetic analysis can help in the clinical diagnosis
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Association of circulating fibroblast growth factor 21 levels with all-cause and cardiovascular mortality: The multi-ethnic study of atherosclerosis Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-01 William J. Tucker, Bradley Tucker, Andrzej S. Januszewski, Alicia J. Jenkins, Anthony C. Keech, Bryan R. Kestenbaum, Matthew A. Allison, Kerry-Anne Rye, Kwok Leung Ong
Fibroblast growth factor 21 (FGF21) levels are often elevated in cardiovascular disease (CVD). However, no study has assessed its association with cardiovascular and all-cause mortality in a population free of clinically evident CVD. A total of 5543 Multi-Ethnic Study of Atherosclerosis (MESA) participants (mean age 62.7 years, 47.5 % male), free of clinically evident CVD at baseline, were studied
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Soluble signal inhibitory receptor on leukocytes-1 reflects disease activity and assists diagnosis of patients with rheumatoid arthritis Clin. Chim. Acta (IF 5.0) Pub Date : 2024-02-01 Zhen Xv, Xuejing Xv, Nianzhen Chen, Jiayi Yuan, Jing Li, Lan Wang, Shanshan Yu, Gen Li, Menglei Ding, Ming Zong, Lieying Fan
SIRL-1, an immunosuppressive receptor encoded by the gene, has recently been linked to rheumatoid arthritis (RA) due to its association with activated polymorphonuclear neutrophils (PMNs). Considering that the activated PMNs play a crucial role in the pathogenesis of rheumatoid arthritis (RA), we aimed to measure the levels of soluble SIRL-1, investigating whether they add value to RA in the clinical
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Urinary biomarkers in kidney disease Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-26 Esra Canki, Esther Kho, Joost G.J. Hoenderop
Background Chronic kidney disease (CKD) affects many people worldwide and early diagnosis is essential for successful treatment and improved outcome. Unfortunately, current methods are insufficient especially for early disease detection. However, advances in the analytical methods for urinary biomarkers may provide a unique opportunity for diagnosis and management of CKD. This review explores evolving
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Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-26 Xiaoxia Chang, Chunmin Ji, Ting Zhang, Huan Huang
Background Heat shock protein family A member 9 (HSPA9) prevents unfolded and dysfunctional protein accumulation, with genetic variants known to be pathogenic. Here, we determined the genetic cause of Even-Plus syndrome (OMIM: 616854) in a Chinese family. Methods We collected samples from two affected and two normal individuals. Whole-exome sequencing was performed to identify their genetic profiles
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Lower serum AMH concentration is correlated with serum IgG1 decreased in the infertile woman: A real-world retrospective study Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-28 Pan Wang, Lin Qi, Nan Yang, Yuting Xue, Jiansuo Zhou, Yonghua Wu, Tiancheng Wang, Liyuan Cui
Objectives In this real-world approach, we examined the serum Anti-Mullerian Hormone (AMH) level and the relationship with serum IgG subclass in the infertile women. Methods A total of 574 female participants were recruited for this study. The serum AMH, IgG subclass(IgG1, IgG2, IgG3, IgG4) and immunoglobulin (Ig) G、IgM、IgA、IgE as well as complement C3, C4 were analyzed. The difference in serum AMH
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Analysis of the diagnostic and prognostic value of serum PAD2 in patients with sepsis in the intensive care unit Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-26 Li Wang, Xin Cai, Shi Peng, Dongling Tang, Pingan Zhang
Background Sepsis is a common disease in the intensive care unit (ICU). In recent years, the incidence rate and mortality rate remain high. Early diagnosis of sepsis is crucial for treatment and can effectively reduce mortality. So far, the ability of serum peptidylarginine deaminase 2 (PAD2) in the diagnosis and prognosis of sepsis patients is still unclear. We conducted this study to reveal the clinical
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Evolution of LC–MS/MS in clinical laboratories Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-26 Songlin Yu, Yutong Zou, Xiaoli Ma, Danchen Wang, Wei Luo, Yueming Tang, Danni Mu, Ruiping Zhang, Xinqi Cheng, Ling Qiu
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has attracted significant attention in clinical practice owing to its numerous advantages. However, the widespread adoption of this technique is hindered by certain limitations, such as inappropriate analyte selection, low levels of automation, and a lack of specific reference intervals and quality control programs. This review comprehensively
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Application of two-dimensional polymerase chain reaction to detect four types of microorganisms in feces for assisted diagnosis of IBD Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-26 Xuan Wu, Yueying Li, Yuanjiang Shang, Weifeng Wang, Lixia Wu, Lin Han, Qiong Wang, Zhujian Wang, Hanchen Xu, Weiwei Liu
Background The incidence of inflammatory bowel disease (IBD) continues to increase annually, accounting for about 6.8 million cases in 2017 worldwide. However, there is currently no gold standard for the diagnosis of IBD. Methods A method for the detection of four microorganisms in feces by two-dimensional polymerase chain reaction (2D-PCR) has been developed. Plasmids were used to validate the sensitivity
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Biomarker-specific biosensors revolutionise breast cancer diagnosis Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-22 Mugip Rahaman Abdul Wahab, Thirunavukkarasu Palaniyandi, Sandhiya Viswanathan, Gomathy Baskar, Hemapreethi Surendran, S.G.D. Gangadharan, Abimanyu Sugumaran, Asha Sivaji
Breast cancer is the most common cancer among women across the globe. In order to treat breast cancer successfully, it is crucial to conduct a comprehensive assessment of the condition during its initial stages. Although mammogram screening has long been a common method of breast cancer screening, high rates of type I error and type II error results as well as radiation exposure have always been of
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CA19-9 and CEA biosensors in pancreatic cancer Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-20 Mohsen Ahmadipour, Anish Bhattacharya, Mohsen Sarafbidabad, Ezza Syuhada Sazali, Sib Krishna Ghoshal, Meenaloshini Satgunam, Ramesh Singh, Mohammad Rezaei Ardani, Nadhem Missaoui, Hamza Kahri, Ujjwal Pal, Ai Ling Pang
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Lactogenesis factors in the Asian population Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-23 Raden Slamet Soeprijadi, Sri Andarini, Tita Hariyanti, I. Wayan Arsana Wiyasa
The increasing incidence of disrupted lactogenesis in Asian populations underscores the importance of timely identification and efficient intervention. This study acknowledges the influence of ethnicity on genetic variations and aims to investigate the genetic mechanisms that contribute to lactogenesis in individuals of Asian descent. This study examines the possibilities of genetic screening as a
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MicroRNA biosensors for the detection of liver cancer Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-23 Mehdi Fattahi, Fereshteh Rahdan, Donya Shaterabadi, Maryam Zamani Sani, Mehdi Alizadeh, Seyyed Hossein Khatami, Mortaza Taheri-Anganeh, Ahmad Movahedpour, Hassan Ghasemi
Liver cancer is one of the deadliest types worldwide and early diagnosis is highly important for successful treatment. Therefore, it is necessary to develop rapid, sensitive, simple, and inexpensive analytical tools for its detection. MicroRNAs (miRNA) represent unique biomarkers whose expression in biofluids is strongly associated with cancer in general and miR-21, -31, -122, -145, -146a, -200c, -221
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Development and validation of a novel multiplex digital PCR assay for identification of pathogens in cerebrospinal fluid of children with bacterial meningitis Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-20 Ying Yang, Yiting Hu, Cheng Yang, Wen Shi, Sufeng Jin, Chunzhen Hua, Kewen Jiang
Background and aims Identifying the pathogens of bacterial meningitis (BM) is crucial for its diagnosis and treatment. The aim of this study is to develop and validate a novel method for detecting pathogens in cerebrospinal fluid (CSF) of children with BM using a digital polymerase chain reaction (dPCR) assay. Materials and methods: A novel multiplex dPCR assay method has been developed and validated
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Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-21 Jinying Wu, Yaqiong Cui, Tao Liu, Chunyu Gu, Ximeng Ma, Changshun Yu, Yingzi Cai, Jianbo Shu, Wenhong Wang, Chunquan Cai
Background Hematuria is a common condition in clinical practice of pediatric patients. It is related to a wide spectrum of disorders and has high heterogeneity both clinically and genetically, which contributes to challenges of diagnosis and lead many pediatric patients with hematuria not to receive accurate diagnosis and early management. Methods In this single center study, 42 children with hematuria
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First clinical evidence that trimethylsulfonium can serve as a biomarker for the production of the signaling molecule hydrogen sulfide Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-22 Francesca Antonaros, Barbara Obermayer-Pietsch, Giuseppe Ramacieri, Beatrice Vione, Chiara Locatelli, Walter Goessler, Maria Caracausi, Bassam Lajin
Background Hydrogen sulfide (H2S) is established as the third gaseous signaling molecule and is known to be overproduced in down syndrome (DS) due to the extra copy of the CBS gene on chromosome 21, which has been suggested to contribute to the clinical manifestation of this condition. We recently discovered trimethylsulfonium (TMS) in human urine and highlighted its potential as a selective methylation
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Targeted proteomics and metabolomics for biomarker discovery in abdominal aortic aneurysm and post-EVAR sac volume Clin. Chim. Acta (IF 5.0) Pub Date : 2024-01-20 Alexander Vanmaele, Elke Bouwens, Sanne E Hoeks, Alida Kindt, Lieke Lamont, Bram Fioole, Adriaan Moelker, Sander ten Raa, Burhan Hussain, José Oliveira-Pinto, Arne S Ijpma, Felix van Lier, K. Martijn Akkerhuis, Danielle F Majoor-Krakauer, Thomas Hankemeier, Yolanda de Rijke, Hence JM Verhagen, Eric Boersma, Isabella Kardys
Background and aims Abdominal aortic aneurysm (AAA) patients undergo uniform surveillance programs both leading up to, and following surgery. Circulating biomarkers could play a pivotal role in individualizing surveillance. We applied a multi-omics approach to identify relevant biomarkers and gain pathophysiological insights. Materials and methods In this cross-sectional study, 108 AAA patients and