Article
Microbiology
Jean H. H. Kim, Veronica Robles, Kristin E. D. Weimer, Lisa H. M. Gehtland, Katerina S. S. Kucera
Summary: The implementation of cCMV screening in public health programs is hindered by challenges such as limited specimen availability and an insufficiently sensitive DBS-based assay. Efforts have been made to improve the currently available DBS-based method in order to increase its feasibility in newborn screening programs. Evaluation: 7 out of 10.
MICROBIOLOGY SPECTRUM
(2023)
Article
Medicine, General & Internal
Toshihiro Miyamoto, Masaki Iino, Yasuji Komorizono, Toru Kiguchi, Nobufusa Furukawa, Maki Otsuka, Shohei Sawada, Yutaka Okamoto, Kenji Yamauchi, Toshitaka Muto, Tomoaki Fujisaki, Hisashi Tsurumi, Kimitoshi Nakamura
Summary: The study evaluated the real-world application of a simplified DBS screening method for patients suspected of having GD, indicating that this method was less burdensome to patients, easily utilized by many physicians, and could serve as a useful first-tier screening assay for GD.
Article
Biochemistry & Molecular Biology
Justyna Spiewak, Ivan Doykov, Apostolos Papandreou, Jenny Haellqvist, Philippa Mills, Peter T. Clayton, Paul Gissen, Kevin Mills, Wendy E. Heywood
Summary: Dried blood spot (DBS) biomarkers are convenient for monitoring specific lysosomal storage diseases (LSDs), but may also have relevance for other LSDs. A study was conducted to determine the specificity and utility of glycosphingolipidoses biomarkers in a DBS cohort of patients with various LSDs. The findings indicated that DBS glucosylceramide isoform profiling increased the specificity for the detection of Niemann-Pick disease type C (NPC), thereby improving diagnostic accuracy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Michael Y. Schakelaar, Eef G. W. M. Lentjes, Timothy S. Q. Visser, Arjan H. Schoneveld, Imo E. Hoefer, Wouter Tiel M. Groenestege
Summary: This study demonstrates that TSH can be accurately measured from dried blood spots (DBS) for the diagnosis of hypothyroidism and hypothryotropinemia. DBSs are stable and cost-effective, making them suitable for telediagnostics, screening programs, patient follow-up, and medication management.
Article
Biochemistry & Molecular Biology
Yuru Wang, Christopher D. Katanski, Christopher Watkins, Jessica N. Pan, Qing Dai, Zhuoxun Jiang, Tao Pan
Summary: A high-throughput screening method was introduced to evaluate AlkB variants for demethylation activity on RNA and DNA substrates, leading to the identification of variants with improved activity. This method provides a tool for in vitro evolution of any demethylase enzyme.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Medicine, General & Internal
Jessica Beyerl, Raquel Rubio-Acero, Noemi Castelletti, Ivana Paunovic, Inge Kroidl, Zohaib N. Khan, Abhishek Bakuli, Andreas Tautz, Judith Oft, Michael Hoelscher, Andreas Wieser
Summary: Since 2020, SARS-CoV-2 has spread pandemically, infecting over 119 million people and causing over 2.6 million deaths. Symptoms vary greatly and different populations react differently to the disease. Measurement of specific anti-SARS-CoV-2 antibodies is crucial for assessing infection spread and vaccination success.
Article
Biochemistry & Molecular Biology
Tama Dinur, Peter Bauer, Christian Beetz, Guido Kramp, Claudia Cozma, Marius-Ionut Iurascu, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Ari Zimran, Shoshana Revel-Vilk
Summary: This study reviews seven years of experience using dried blood spot (DBS) samples and lyso-Gb1 levels for diagnosing Gaucher disease (GD) and calls for a paradigm change in GD diagnosis based on lyso-Gb1 measurements and GBA1 mutation analyses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Chinwe O. Okeke, Reuben I. Chianumba, Hezekiah Isa, Samuel Asala, Obiageli E. Nnodu
Summary: Using dried blood spots on HemoTypeSC for sickle cell disease testing is as accurate as the standard point-of-care test. The use of dried blood spots can improve the efficiency and cost-effectiveness of mass newborn screening for SCD.
FRONTIERS IN GENETICS
(2022)
Article
Chemistry, Multidisciplinary
Lenka Rysava, Milos Dvorak, Pavel Kuban
Summary: This study introduces a simple and convenient concept of automated blood sampling and analysis, allowing for accurate collection of blood samples and automated processing and analysis in a laboratory setting. Using warfarin blood concentration determination as an example, the concept demonstrates excellent analytical performance and wide applicability to various types of blood compounds.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2021)
Article
Chemistry, Medicinal
Yahdiana Harahap, Aurelia Maria Vianney, Herman Suryadi
Summary: The study developed a sensitive and selective analytical method for analyzing O-6-methylguanine using UPLC-MS/MS, fulfilling FDA validation parameter requirements with a linear concentration range of 0.5-20 ng/mL.
DRUG DESIGN DEVELOPMENT AND THERAPY
(2021)
Article
Multidisciplinary Sciences
Nora Grecso, Anita Zadori, Akos Barath, Zsolt Galla, Gabor Racz, Csaba Bereczki, Peter Monostori
Summary: This study compared five different QC preparation approaches for CAH diagnostics in dried blood spots, finding that four techniques produced similar results in terms of reproducibility and concentration ranges, while the third technique showed significantly lower concentrations in some cases. These findings have implications for the in-house preparation of QC samples in laboratory developed tests for CAH.
Article
Medical Laboratory Technology
Nick Flynn, Stuart J. Moat, Sarah L. Hogg
Summary: A computer vision algorithm was developed and validated to measure DBS diameter and identify incorrectly applied blood. CV demonstrated excellent agreement with digital calipers and could accurately assess DBS size and quality. CV can aid in reducing the number of unsuitable NBS specimens and minimizing the impact of DBS diameter on analyte concentrations.
CLINICA CHIMICA ACTA
(2023)
Article
Chemistry, Analytical
Ondrej Moravcik, Milos Dvorak, Pavel Kuban
Summary: A new set-up for fully autonomous and high-throughput capillary electrophoresis analysis of dried blood spot samples is presented. The set-up enables unmanned sample processing and analysis with tailor-programmed CE sequences, allowing for a throughput of 240 samples per day. The analytical protocol provides excellent precision and calibration curves with linear ranges and detection limits suitable for clinical purposes. The stability of the samples stored at laboratory temperature for up to 2 months is also demonstrated.
ANALYTICA CHIMICA ACTA
(2023)
Review
Chemistry, Analytical
Agnieszka Niemiec
Summary: DBS as a new method of sample collection is simple, rapid, and does not require trained personnel to collect samples, playing an important role in newborn screening and toxicology, with a broad development potential in the future.
Article
Biotechnology & Applied Microbiology
Ashley E. Sproles, Anthony Berndt, Francis J. Fields, Stephen P. Mayfield
Summary: This study describes the design of an optimized vector for rapid identification and isolation of high-expression recombinant protein transformants in Chlamydomonas. The method greatly reduces screening time and enables the production of large populations of recombinant algae transformants for subsequent sequencing and analysis.
APPLIED MICROBIOLOGY AND BIOTECHNOLOGY
(2022)
Article
Medical Laboratory Technology
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)
Review
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Review
Medical Laboratory Technology
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)
Review
Medical Laboratory Technology
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)
Review
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Review
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)
Article
Medical Laboratory Technology
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)