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
Chemistry, Analytical
Michal Kopcil, Roman Kand'ar
Summary: Uric acid and its oxidation product allantoin serve as excellent biomarkers for oxidative stress in humans. A fast, sensitive, and reliable HPLC-MS/MS method was developed for the simultaneous determination of uric acid and allantoin from dried blood spots. The method utilizes stable isotopically labeled analogs as internal standards and can provide accurate results within a short analysis time. This method is suitable for screening and monitoring allantoin and uric acid levels as biomarkers of oxidative stress in clinical practice.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2023)
Article
Endocrinology & Metabolism
Peiling Su, Hamid Khaledi, Christine Waggoner, Michael H. Gelb
Summary: GM1-gangliosidosis may require screening in newborns in the future due to ongoing gene therapy clinical trials. A new enzymatic assay method was utilized to show significantly lower GLB1 activities in newborn DBS from GM1-gangliosidosis patients compared to random samples, as well as high levels of glycan biomarkers dp5 and A2G2 in affected newborns.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Ahmad N. Alodaib, Refat M. Nimer, Rowan Alhumaidy, Alaa Alhenaky, Mai Abdel Jabar, Reem H. AlMalki, Anas M. Abdel Rahman
Summary: This study used metabolomics to investigate metabolic changes in galactosemia patients. It found that 2,819 metabolites showed significant changes in patients with GAL compared to the control group. PA (8:0/LTE4) and ganglioside GT1c (d18:0/20:0) metabolites showed the most significant difference. Potential biomarkers for GAL, such as 17-alpha-estradiol-3-glucuronide and 16-alpha-hydroxy DHEA 3-sulfatediphosphate, were also identified.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Endocrinology & Metabolism
Pin-Wen Chen, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien
Summary: This study demonstrates that the detection of L-dopa metabolite 3-OMD can be easily integrated into existing newborn screening programs to facilitate early diagnosis and effective treatment of AADC deficiency. Among 157,371 newborns screened, 8 newborns were found to have elevated 3-OMD concentration, and 6 of them were confirmed to carry two pathogenic DDC variants. The results suggest that this screening method can be an important tool for identifying and treating AADC deficiency.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Medical Laboratory Technology
Sonia Pajares-Garcia, Jose Manuel Gonzalez de Aledo-Castillo, Jose Eduardo Flores-Jimenez, Tatiana Collado, Judit Perez, Abraham Jose Paredes-Fuentes, Ana Argudo-Ramirez, Rosa Maria Lopez-Galera, Blanca Prats, Judit Garcia-Villoria
Summary: This study developed a method for analyzing metabolites in dried blood spot samples, which can effectively distinguish different diseases and improve the efficiency of newborn screening programs.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Isabel Ten-Domenech, Alvaro Solaz-Garcia, Inmaculada Lara-Canton, Alejandro Pinilla-Gonzalez, Anna Parra-Llorca, Maximo Vento, Guillermo Quintas, Julia Kuligowski
Summary: The GSH-to-GSSG ratio is critical for intracellular redox status. A new LC-MS method for measuring GSH and GSSG in DBS samples was developed, providing a convenient alternative to liquid blood samples. The levels of GSH-NEM and GSSG measured in DBS samples were comparable to those obtained from liquid blood samples in clinical scenarios.
Article
Medical Laboratory Technology
Ziwei Li, Deling Chen, Yan Shu, Jing Yang, Juan Zhang, Ming Wang, Kexing Wan, Yinpin Zhou, Xiaoyan He, Lin Zou, Chaowen Yu
Summary: We have developed a fast, high throughput, and reliable method for screening β-thalassemia and hemoglobinopathy in children and adults, which is expected to be used as a first-line screening assay.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Chemistry, Analytical
C. Louwrens Braal, Mei H. Lam, Tineke Rienks, Claudia J. van Tilborg, Wendy Heuts, Joan B. Heijns, Monique E. M. M. Bos, Ron H. J. Mathijssen, Peter de Bruijn, Stijn L. W. Koolen
Summary: A reliable and specific LC-MS/MS method was developed for determining ribociclib in both DBS samples and plasma. The method met FDA guidelines for validation and showed a strong correlation between ribociclib concentrations in DBS and plasma. This study demonstrates the potential of using DBS for monitoring ribociclib levels in breast cancer patients.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2021)
Article
Biochemistry & Molecular Biology
Xia Zhan, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Jun Guo, Siyu Chang, Yu Wang, Huiwen Zhang
Summary: The second-tier steroid profiling by LC-MS/MS reduced the false-positive rate and improved the positive predictive value of CAH screening. Applying this steroid profiling assay as a second-tier test for CAH screening in China is suggested.
Article
Biochemical Research Methods
Lizi Jin, Zhenni Liu, Jie Zeng, Haijian Zhao, Jiangtao Zhang, Bo Zhu, Yu Zhang, Tianjiao Zhang, Chuanbao Zhang
Summary: This study developed a rapid LC-MS/MS method for the determination of serum and urine organic acid profiles without derivatization or liquid-liquid extraction. The method showed good specificity, sensitivity, robustness, and accuracy. It has the potential for rapid screening and diagnosis of inherited metabolic disorders in the future.
ANALYTICAL AND BIOANALYTICAL CHEMISTRY
(2022)
Article
Biochemical Research Methods
Julian Uszkoreit, Dirk Winkelhardt, Katalin Barkovits, Maximilian Wulf, Sascha Roocke, Katrin Marcus, Martin Eisenacher
Summary: Protein sequence databases, particularly UniProtKB, are essential for mass-spectrometry-based proteomics workflows. MaCPepDB, a mass-centric peptide database, provides comprehensive information on tryptic peptides for peptide sequence queries, information on connected proteins, and mass queries for MS/MS spectra. This database is crucial for identifying peptides in samples and conducting targeted proteomic approaches like SRM and PRM.
JOURNAL OF PROTEOME RESEARCH
(2021)
Article
Environmental Sciences
Jeremy P. Koelmel, Elizabeth Z. Lin, Emily Parry, Paul Stelben, Emma E. Rennie, Krystal J. Godri Pollitt
Summary: Non-targeted PFAS analysis was applied to human blood to understand the sources, concentrations, and toxicity of these compounds. High-resolution tandem mass spectrometry and software workflow were used for PFAS characterization in dried blood spots. A total of 28 PFAS and 86 potential PFAS were detected, providing insights for environmental epidemiology studies and policy-making.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Chemistry, Analytical
Khalid M. Sumaily, Refat Nimer, Maha Alzahrani, Mai Abdel Jabar, Ahmad Alodib, Essa M. Sabi, Imran Nizami, Anas M. Abdel Rahman
Summary: The CFTR protein, found on the surface of epithelial cells, could serve as a potential biomarker for cystic fibrosis (CF) disease. Existing diagnostic methods for CF face challenges, but a new method using absolute quantification and liquid chromatography-tandem spectrometry has shown accurate results in quantifying CFTR protein in a dried blood spot. The study suggests that this method could be used for CF screening.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2022)
Article
Genetics & Heredity
Xinying Hong, Jessica Daiker, Martin Sadilek, Nicole Ruiz-Schultz, Arun Babu Kumar, Stevie Norcross, Warunee Dansithong, Teryn Suhr, Maria L. Escolar, C. Ronald Scott, Andreas Rohrwasser, Michael H. Gelb
Summary: The study demonstrates the feasibility of newborn screening for MLD using dried blood spots, achieving nearly 100% assay specificity with a two-tier screening algorithm. Two high-risk cases were identified and confirmed through ARSA gene sequencing.
GENETICS IN MEDICINE
(2021)