Medical Laboratory Technology

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Article Medical Laboratory Technology

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency

Jiansheng Lin, Weihua Lin, Yiming Lin, Weilin Peng, Zhenzhu Zheng

Summary: This study retrospectively analyzed the cases of Chinese infants with NICCD and identified multiple genetic mutations. The study also found comorbidity of NICCD and other inborn errors of metabolism in some patients.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

A comparative study of plasma and dried blood spot metabolomics and its application to diabetes mellitus

Huai-Hsuan Chiu, Shin-Yi Lin, Chen-Guang Zhang, Chuan-Ching Tsai, Sung-Chun Tang, Ching-Hua Kuo

Summary: Metabolomics has emerged as a promising approach for understanding pathological mechanisms. This study compared plasma (PLS) and dried blood spot (DBS) samples to investigate the correlation between their metabolites. It was found that approximately 47% of the samples showed a strong correlation, 19% showed a moderate correlation, and 34% showed a low or negligible correlation. Additionally, two significant metabolites were identified in both PLS and DBS samples from diabetes mellitus (DM) patients.

CLINICA CHIMICA ACTA (2024)

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Review Medical Laboratory Technology

Genetics of congenital heart disease

Yuanqin Zhao, Wei Deng, Zhaoyue Wang, Yanxia Wang, Hongyu Zheng, Kun Zhou, Qian Xu, Le Bai, Huiting Liu, Zhong Ren, Zhisheng Jiang

Summary: The cardiovascular system and the central nervous system exhibit a coordinated developmental process during embryonic development. Congenital heart disease (CHD) is the most common congenital disorder, and neurodevelopmental disorders (NDD) are common complications in CHD patients. Both genetic and non-genetic factors contribute to the co-occurrence of CHD and NDD. Further research should focus on identifying common molecular mechanisms underlying this co-occurrence and promoting the research and treatment of developmental disorders related to the cardiovascular and central nervous systems.

CLINICA CHIMICA ACTA (2024)

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Review Medical Laboratory Technology

M-protein detection by mass spectrometry for minimal residual disease in multiple myeloma

Lihua Guan, Wei Su, Jian Zhong, Ling Qiu

Summary: Multiple myeloma is characterized by excessive production of monoclonal immunoglobulins. Routine screening methods are insufficient for detecting low levels of M proteins, but advances in mass spectrometry enable reliable detection of low abundance serum biomarkers for minimal residual disease assessment in multiple myeloma.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Identification of an association between coronary heart disease and ITGB2 methylation in peripheral blood by a case-control study

Liya Zhu, Chao Zhu, Jialie Jin, Jinxin Wang, Xiaojing Zhao, Rongxi Yang

Summary: This study found an association between blood-based ITGB2 methylation and coronary heart disease (CHD), with hypomethylation of ITGB2 being a risk factor for CHD. Additionally, the combination of ITGB2 methylation and conventional CHD risk factors could efficiently discriminate CHD patients from controls.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation

Linnea Pettersson, Sofia Westerling, Venkat Talla, Anton Sendel, Lars Wennberg, Richard Olsson, Anders Hedrum, Dan Hauzenberger

Summary: The aim of this study was to evaluate the performance of a novel NGS assay for monitoring donor-derived cell-free DNA in kidney transplanted patients. The assay demonstrated high sensitivity, good accuracy, and precision in both artificial and clinical samples. The study also found that the assay could detect an increase in donor-derived cell-free DNA before the increase in creatinine caused by acute cellular rejection.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

Chengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Huang

Summary: This study proposes an effective method for screening X-ALD and evaluates the performance of newborn screening for X-ALD in Guangzhou. The LC-MS/MS method can accurately identify X-ALD through analysis of C26:0-LPC.

CLINICA CHIMICA ACTA (2024)

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Review Medical Laboratory Technology

Genomic profile of Parkinson's disease in Asians

Valentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, Matthew Justyn

Summary: The study of Parkinson's Disease in Asian populations has revealed the impact of genetic variants on multiple biological pathways and highlighted shared genetic susceptibility with other diseases. These findings emphasize the importance of personalized treatment based on individual genetic profiles.

CLINICA CHIMICA ACTA (2024)

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Review Medical Laboratory Technology

Prediction of atherosclerotic cardiovascular risk in early childhood

Simona Ferraro, Sara Benedetti, Savina Mannarino, Santica Marcovina, Elia Mario Biganzoli, Gianvincenzo Zuccotti

Summary: Risk stratification for cardio-vascular disease should be implemented in childhood to promote early prevention strategies, as atherosclerotic lesions can be present even in very young individuals. Evaluating pediatric CV risk factors/clinical conditions and conducting lipid profile and genetic testing can help identify children at risk of future CV events and guide appropriate therapeutic options.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

The impact of saliva collection methods on measured salivary biomarker levels

H. Al Habobe, E. B. Haverkort, K. Nazmi, A. P. Van Splunter, R. H. H. Pieters, F. J. Bikker

Summary: Saliva diagnostics have become popular due to their non-invasive nature and patient-friendly collection process. However, the choice of saliva collection method can affect the measured levels of various biomarkers.

CLINICA CHIMICA ACTA (2024)

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Review Medical Laboratory Technology

Advances in human reproductive biomarkers

Ahmad Mobed, Bita Abdi, Sajjad Masoumi, Mohammad Mikaeili, Elham Shaterian, Hamed Shaterian, Esmat Sadat Kazemi, Mahdiye Shirafkan

Summary: Reproductive biomarkers play important regulatory roles in women. The discovery and quantification of these biomarkers are clinically significant. Various detection strategies, including nanotechnology-based methods, have been developed. This article provides an in-depth introduction to the latest advances in biosensor and nanosensor research for detecting and quantitatively identifying reproductive biomarkers.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis

Lan Liu, Jiamin Wang, Xijing Liu, Jing Wang, Lin Chen, Hongmei Zhu, Jingqun Mai, Ting Hu, Shanling Liu

Summary: The 16p11.2 deletion is a common genetic cause of neurodevelopmental disorders, with prenatal and postnatal presentations including vertebral malformations and language impairment. The majority of deletions are de novo and may be associated with MAPK3 and histidine-associated metabolism.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

The identification of novel stroke-related sphingolipid biomarkers using UPLC-MS/MS

Zhi Yang, Xuhui Deng, Jinhua Zhu, Sujuan Chen, Chenze Jiao, Yucai Ruan

Summary: This study identifies six metabolic markers related to sphingolipid metabolism that have potential as diagnostic markers for stroke. The markers showed significant differential expression between stroke patients and healthy controls and demonstrated good diagnostic potential in distinguishing between the two groups.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Flow cytometry in the detection of circulating tumor cells in neoplastic effusions

Karol Gostomczyk, Ewelina Lukaszewska, Jedrzej Borowczak, Anita Bator, Marek Zdrenka, Magdalena Bodnar, Lukasz Szylberg

Summary: Flow cytometry improves the detection of epithelial cancer cells in peritoneal and pleural fluids compared to conventional cytology. Due to similar speciflcity and higher sensitivity, flow cytometry offers a promising alternative to cytology for patient screening.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Usability of serum inter-α-trypsin inhibitor heavy chain 4 as a biomarker for assessing severity and predicting functional outcome after human aneurysmal subarachnoid hemorrhage: A prospective observational cohort study at a single institution

Heping Tian, Genghuan Wang, Qi Zhong, Haihang Zhou

Summary: This study found that the decline of serum ITIH4 concentrations during the early phase after aneurysmal subarachnoid hemorrhage (aSAH) was closely related to the severity and poor prognosis of the disease. Serum ITIH4 may represent a promising prognostic biomarker of aSAH.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Prospectives and retrospectives of microfluidics devices and lab-on-A-chip emphasis on cancer

Sneha Venkatesalu, Shanmugapriya Dilliyappan, Avanthika Satish Kumar, Thirunavukkarasu Palaniyandi, Gomathy Baskar, Maddaly Ravi, Asha Sivaji

Summary: Microfluidics is a science and technology that deals with less sample-to-more precision in vitro analysis. It has wide applications in cancer theranostics, enabling precise diagnosis and personalized treatment.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Accurate identification of HLA-B*15:02 allele by two-dimensional polymerase chain reaction

Xueting Zhu, Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua Luo, Lu Zheng

Summary: This study successfully established a 2D-PCR method for identifying HLA-B*15:02 through a two-tube reaction. This method can distinguish HLA-B*15:02 from 16 highly homologous HLA-B*15 alleles. Among 1830 samples from the clinical general population, 3 HLA-B*15:02 homozygotes and 84 HLA-B*15:02 heterozygotes were detected.

CLINICA CHIMICA ACTA (2024)

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Article Medical Laboratory Technology

Sex-related differences in within-subject biological variation estimates for 22 essential and non-essential amino acids

Abdurrahman Coskun, Anna Carobene, Ozlem Demirelce, Michele Mussap, Federica Braga, Ebru Sezer, Aasne Karine Aarsand, Sverre Sandberg, Pilar Fernandez Calle, Jorge Diaz-Garzon, Metincan Erkaya, Cihan Coskun, Esila Nur Erol, Hunkar Dag, Bill Bartlett, Mustafa Serteser, Niels Jonker, Ibrahim Unsal

Summary: In this study, BV estimates for 22 AAs were provided based on a large sample size, and it was found that there are differences in CVI estimates between males and females for most AAs, which has implications for the clinical interpretation and use of AAs.

CLINICA CHIMICA ACTA (2024)

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Article Plant Sciences

The effect of semen cuscutae flavonoid on Sertoli cells and blood-testis barrier in male infertility: integrating network pharmacology and experimental verification

Chen-xiao Liu, Su-qin Hu, Dian-long Liu, Ya-hui Xu, Ke Hu, Jian Guo

Summary: The study found that semen cuscutae flavonoid (SCF) can treat male infertility by regulating the proliferation and differentiation of Sertoli cells and the integrity of the blood-testis barrier.

PHARMACEUTICAL BIOLOGY (2023)

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Article Plant Sciences

Nardostachys jatamansi and levodopa combination alleviates Parkinson's disease symptoms in rats through activation of Nrf2 and inhibition of NLRP3 signaling pathways

Jiayuan Li, Jiahe Yu, Jianyou Guo, Jinfeng Liu, Guohui Wan, Xiaojia Wei, Xue Yang, Jinli Shi

Summary: The combination of Nardostachys jatamansi (NJ) and levodopa has a synergistic effect in alleviating Parkinson's disease (PD), which is achieved by activating the Nrf2 pathway and inhibiting oxidative stress and the NLRP3 pathway.

PHARMACEUTICAL BIOLOGY (2023)

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