Article
Genetics & Heredity
Xia Li, Jun He, Ling He, Yudong Zeng, Xuzhen Huang, Yechao Luo, Yujiao Li
Summary: This study retrospectively analyzed the results of expanded newborn screening in Changsha and identified 14 types of inherited metabolic disorders. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia, and short-chain acyl-CoA dehydrogenase deficiency. Utilizing tandem mass spectrometry in newborn screening can facilitate early diagnosis and treatment, preventing irreversible growth and intellectual development disorders.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Hong Zhang, Yanyun Wang, Yali Qiu, Chao Zhang
Summary: Tandem mass spectrometry (MS/MS) has been used to assess the incidence and genetic characteristics of inherited metabolic disorders (IMDs) in Suqian city, China. The overall incidence of IMDs was found to be high, with phenylalanine hydroxylase deficiency being the most common disorder. Hot spot mutations in genes such as PAH, ACADS, and MMACHC were identified as the leading causes of IMDs in this region. This study contributes to the understanding and management of these disorders in Suqian city.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai
Summary: This study investigated the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province, northwest China, and found that phenylketonuria and methylmalonic acidemia were the two most common disorders. Effective clinical guidance and data support were provided for the popularization and application of expanded newborn screening and genetic counseling of IEMs in this region.
SCIENTIFIC REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Sara Tucci, Khaled Ibrahim Alatibi, Zeinab Wehbe
Summary: This work summarizes recent findings on metabolic flexibility and its implications in diseases such as VLCADD and ACSF3 deficiency, discussing the role of mitochondrial fatty acid metabolism in maintaining energy homeostasis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Medicine, General & Internal
Yohei Sugiyama, Kei Murayama
Summary: Acute encephalopathy is a severe medical condition that primarily affects previously healthy children and young adults, often resulting in death or severe neurological consequences. Inherited metabolic diseases, such as urea cycle disorders, amino acid metabolism disorders, and organic acid metabolism disorders, can cause acute encephalopathy. Early metabolic/metabolic screening tests are crucial for diagnosing these diseases. Prompt recognition, appropriate testing, and parallel treatment are essential in managing acute encephalopathy caused by inherited metabolic diseases.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Cell Biology
Graziela Schmitt Ribas, Franciele Fatima Lopes, Marion Deon, Carmen Regla Vargas
Summary: Ammonia is a neurotoxic compound that can cause severe damage to the central nervous system, potentially leading to life-threatening symptoms. Inherited metabolic diseases, such as classical organic acidurias and defects of mitochondrial fatty acids oxidation, are the main causes of hyperammonemia in neonates. Early and effective treatment is crucial to prevent irreversible neurological damage.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2022)
Article
Public, Environmental & Occupational Health
Zixuan Zhao, Chi Chen, Xueshan Sun, Duo Zhou, Xinwen Huang, Hengjin Dong
Summary: This study evaluated the economic evaluation of newborn screening for inherited metabolic disorders by tandem mass spectrometry in China. The results showed that NBS using MS/MS can be considered cost-effective in China. Further promotion of nationwide NBS using MS/MS is recommended.
JOURNAL OF MEDICAL SCREENING
(2022)
Article
Biochemistry & Molecular Biology
Falin He, Rulai Yang, Xinwen Huang, Yaping Tian, Xiaofang Pei, Mary Kathryn Bohn, Lin Zou, Yan Wang, Haibo Li, Ting Wang, Maosheng Gu, Tao Jiang, Xigui Chen, Hui Zou, Hongwei Wei, Weibing Tian, Tian Tang, Khosrow Adeli, Zhiguo Wang
Summary: This study investigated the dynamic trends of 35 MS/MS biomarkers and established age and sex-specific RIs, contributing to the current literature and timely evaluation of neonatal health and disease. Age and sex-specific RIs showed improved specificity over the RIs used in participating centers/laboratories, with females showing higher percentiles in most amino acids and males showing higher percentiles in most acylcarnitines.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Pediatrics
Ruotong Li, Liping Tian, Qing Gao, Yuanfang Guo, Gaijie Li, Yulin Li, Meng Sun, Yan Yan, Qing Li, Wenying Nie, Hui Zou
Summary: This study used MS/MS for LSD screening and found that using different cutoff values in each batch of experiments is feasible. The ambient temperature may be the reason for the seasonal variation in enzyme activity cutoff values.
FRONTIERS IN PEDIATRICS
(2022)
Review
Materials Science, Biomaterials
Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Fazli Rabbi Awan
Summary: Even in the post genomic era, some developing countries, including Pakistan, do not have national level newborn screening (NBS) programs for inborn errors of metabolism (IEMs). Lack of technical expertise, high-end omics based analytical facilities, and meager funding for healthcare are the main reasons for the unavailability of NBS programs. This overview emphasizes the need for NBS programs in developing countries like Pakistan, where a significant population and consanguinity rate exist, by highlighting the potential benefits for IEM patients and society.
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
Biochemistry & Molecular Biology
Fatima-Zohra Boufroura, Celine Tomkiewicz-Raulet, Virginie Poindessous, Johan Castille, Jean-Luc Vilotte, Jean Bastin, Sophie Mouillet-Richard, Fatima Djouadi
Summary: The study reveals that CPT2-deficient myotubes exhibit defects in focal adhesions and redox balance, with loss of PrP (c) function leading to similar issues as in CPT2 deficiency. These findings suggest that faulty CPT2 activity may hinder proper myotube differentiation by affecting PrP (c) function.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Maria del Pilar Chantada-Vazquez, Susana B. Bravo, Sofia Barbosa-Gouveia, Jose V. Alvarez, Maria L. Couce
Summary: Inherited metabolic disorders (IMDs) are rare medical conditions caused by genetic defects that affect the body's metabolism. Early diagnosis and understanding of the disease are crucial, and proteomics and tandem mass spectrometry (MS/MS) have emerged as valuable tools for studying IMDs. Proteomics can aid in the identification of biomarkers, early diagnosis, and better understanding of the underlying pathology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Hematology
Usua Oyarbide, Genevieve M. Crane, Seth J. Corey
Summary: Neutrophils, the shortest-lived blood cells, require extensive proliferation and differentiation to maintain sufficient numbers and respond quickly to infections. Defects in cellular metabolism resulting from monogenic disorders can lead to congenital neutropenias. Understanding metabolic pathways could identify new strategies for treating neutropenias.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Pediatrics
Yanyun Wang, Yun Sun, Tao Jiang
Summary: The study identified the potential contamination source for tandem mass spectrometry, mainly from the syringe in Biosan quality control samples. This contamination can interfere with the detection of patient samples and should be carefully monitored.
FRONTIERS IN PEDIATRICS
(2021)
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)