Article
Multidisciplinary Sciences
Vu Viet Ha Vuong, Thinh Huy Tran, Phuoc-Dung Nguyen, Nha Nguyen Thi, Phuong Le Thi, Dang Thi Minh Nguyet, Manh-Ha Nguyen, The-Hung Bui, Thanh Van Ta, Van-Khanh Tran
Summary: In this study, the feasibility and reliability of conducting preimplantation genetic diagnosis (PGD) using short tandem repeat (STR) markers to detect beta-thalassemia in at-risk couples before embryo transfer was demonstrated. The results confirmed by Sanger sequencing showed that this combination of techniques is an effective clinical strategy to reduce the rate of beta-thalassemia in the population.
Article
Medicine, General & Internal
Ting Chen, Chunna Fan, Yonglan Huang, Jizhen Feng, Yinhong Zhang, Jingkun Miao, Xiaohua Wang, Yulin Li, Cidan Huang, Weiwei Jin, Chengfang Tang, Lulu Feng, Yifan Yin, Bo Zhu, Meng Sun, Xiulian Liu, Jiale Xiang, Minyi Tan, Liyun Jia, Lei Chen, Hui Huang, Huanhuan Peng, Xin Sun, Xuefan Gu, Zhiyu Peng, Baosheng Zhu, Hui Zou, Lianshu Han
Summary: This study evaluates the outcomes of using gene panel sequencing as a first-tier screening test for newborns. The findings suggest that gene panel sequencing as a first-tier screening test can improve the detection capability of traditional screening.
Article
Chemistry, Analytical
Zhongping Huang, Zhenzhen Hu, Chaochao Tu, Xinwen Huang, Huijun Liu, Yu Zhang
Summary: This study demonstrated the use of tandem mass spectrometry with automated flow injection for newborn screening of organic acidurias in neonatal urine samples. The method showed a simple and rapid analysis process, effectively shortening the pretreatment time and successfully differentiating propionic aciduria from methylmalonic aciduria.
MICROCHEMICAL JOURNAL
(2021)
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
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
Spectroscopy
Alexander J. Grooms, Benjamin J. Burris, Abraham K. Badu-Tawiah
Summary: Chemical analysis using mass spectrometry plays a crucial role in disease diagnosis by evaluating the genome, transcriptome, proteome, and metabolome to provide information on disease characteristics and physiological functions. Mass spectrometry offers enhanced sensitivity, selectivity, versatility, and speed for accurate and rapid diagnosis, particularly in pediatric and cancer patients.
MASS SPECTROMETRY REVIEWS
(2022)
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
Ryan W. Pearce, Jillian Kodger, Yana Sandlers
Summary: This study developed an LC-ESI-MS/MS method for analyzing various cellular acyl-CoA in a single injection, with a quick extraction step and compensation for matrix effects through isotopically labeled internal standards and matrix-matched calibration. The method was successfully applied to identify 21 cellular acyl-CoA in SK-HEP-1 cells and investigate alterations in acyl-CoA levels post Mito Q antioxidant intervention.
ANALYTICAL BIOCHEMISTRY
(2022)
Review
Biochemical Research Methods
Sven Heiles
Summary: Metabolomics and lipidomics are driving forces in the omics era, with tandem mass spectrometry methods playing a crucial role in characterizing the structural details of metabolites and lipids. Recent advancements in alternative tandem MS methodologies aim to provide full structural characterization of these compounds. The review critically examines the principles, capabilities, drawbacks, and initial applications of these advanced tandem mass spectrometry strategies in the fields of metabolomics and lipidomics.
ANALYTICAL AND BIOANALYTICAL CHEMISTRY
(2021)
Review
Medical Laboratory Technology
Neha Yadav, Amit Kumar Mandal
Summary: Fasting blood glucose and glycated hemoglobin (HbA1c) are widely used biomarkers for diabetes screening and monitoring. While blood glucose level reflects short-term control, HbA1c provides an average measure of long-term glucose control. However, quantification of HbA1c can be affected by genetic variants of hemoglobin. Mass spectrometry, which measures total glycation of hemoglobin, is not impacted by the presence of genetic variants and may be a better analytical choice for diabetes.
CLINICA CHIMICA ACTA
(2023)
Article
Medical Laboratory Technology
Ran Gao, Songlin Yu, Wei Su, Fang Zhao, Danchen Wang, Yuanyuan Zhang, Tianjiao Zhang, Yingying Hu, Xinqi Cheng, Ling Qiu
Summary: The glycation levels of two hemoglobin variants, beta G-Coushatta and beta G-Taipei, were significantly higher than beta A, while the differences in the total hemoglobin glycation levels were small and unlikely to impact the clinical interpretation of HbA(1c) results.
CLINICA CHIMICA ACTA
(2021)
Article
Biochemical Research Methods
Pushpanjali Dasauni, Varun Chhabra, Gaurav Kumar, Suman Kundu
Summary: Hemoglobin disorders can be divided into hemoglobin variants and thalassemias, caused by alterations in hemoglobin molecules. Mass spectrometry plays a crucial role in protein identification, biomarker discovery, and can be used for detecting hemoglobin disorders.
ANALYTICAL BIOCHEMISTRY
(2021)
Article
Medical Laboratory Technology
Rachel S. Carling, Emily Whyte, Catharine John, Rachelle Garstone, Philippa Goddard, Toby Greenfield, Sarah L. Hogg, Clare Le Masurier, Simon Cowen, Stuart J. Moat, Christopher Hopley
Summary: Achieving harmonization and standardization in newborn screening laboratories in the UK is crucial. Optimizing methods, adopting a common protocol, and using standardized calibration material can reduce interlaboratory variation and improve the accuracy of results.
CLINICAL CHEMISTRY
(2022)
Article
Biochemical Research Methods
Tao Huan, Shipei Xing
Summary: We introduce the BUDDY software for accurately determining the molecular formulae of unknown chemicals in mass spectrometry data. BUDDY is a bottom-up approach that exhibits superior annotation performance on reference spectra and experimental datasets. Integration of global peak annotation could enhance BUDDY's formula annotations and uncover feature interrelationships.
Article
Genetics & Heredity
Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Francoise Vincent, Beatrice Gulbis, Francois Eyskens, Francois Boemer, Andre Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke
Summary: A feasibility study was conducted from May 2015 to August 2016 to select financeable biochemical analyses for rare diseases and determine which should be conducted by reference laboratories. This initiative led to the publication of new reimbursement conditions for 46 analyses and recognition of eighteen reference laboratories in 2019, as well as collaborations with foreign laboratories for outsourcing and financing analyses unavailable in Belgium.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Multidisciplinary Sciences
Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, Francois Boemer
Summary: This study developed a highly sensitive method to identify DMD patients carrying deletions that are rescuable by exon-skipping treatment. By analyzing the exons flanking the exon-skipping targets, patients who could benefit from exon-skipping treatment can be identified early on.
SCIENTIFIC REPORTS
(2021)
Article
Obstetrics & Gynecology
Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stephane Gatot, Bernard Grisart, Sandra Janssens, Nairi Khudashvili, Lore Lannoo, Axel Marichal, Colombine Meunier, Leonor Palmeira, Ilse Parijs, Bruno Pichon, Ellen Roets, Eva Sammels, Guillaume Smits, Marion Suenaert, Yves Sznajer, Kris Van den Bogaert, Leen Vancoillie, Lotte Vandeputte, Elise Vantroys, Joris Robert Vermeesch, Katrien Janssens
Summary: The study evaluated the accuracy and diagnostic value of genome-wide NIPT for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. The results showed high sensitivity and specificity of NIPT in detecting trisomy in dichorionic-diamniotic twin gestations.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Multidisciplinary Sciences
Irene Tosi, Tatiana Art, Francois Boemer, Dominique-Marie Votion, Michael S. Davis
Summary: Alaskan sled dogs exhibit a unique metabolic strategy during multiday submaximal exercise, utilizing hepatic glycogenolysis and gluconeogenesis to provide glucose for sustained activity. Acylcarnitines play a crucial role in regulating fat and glucose metabolism, with chain-specific modifications observed in sled dogs during exercise. These findings provide insight into sled dog metabolism, highlighting a liver-centric, carbohydrate-dependent approach during prolonged submaximal exercise.
Article
Biochemistry & Molecular Biology
Francois Boemer, Claire Josse, Geraldine Luis, Emmanuel Di Valentin, Jerome Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aime Lumaka, Vincent Bours, Francois-Guillaume Debray
Summary: Branched-chain amino acids (BCAA) play crucial roles in protein synthesis and brain neurotransmission. BCKDK is a kinase responsible for the inactivation of BCKDH. A new mutation in the BCKDK gene was identified in three patients with developmental delays, and treatment improved their symptoms. Decreased BCAA concentrations were found in newborn screening, suggesting BCKDK as a potential target for treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Nutrition & Dietetics
Anne-Francoise Rousseau, Sarah Schmitz, Etienne Cavalier, Benoit Misset, Francois Boemer
Summary: A stay in the intensive care unit (ICU) increases the risk of carnitine deficiency for patients and acylated derivatives of carnitine (acylcarnitines, AC) have been linked to post-ICU disorders. This study investigated the AC profile of ICU survivors with a prolonged stay. The results showed that the AC profile of survivors was significantly different from the reference ranges, indicating potential metabolic abnormalities.
Article
Clinical Neurology
Tamara Dangouloff, Mickael Hiligsmann, Nicolas Deconinck, Adele D'Amico, Andreea M. Seferian, Francois Boemer, Laurent Servais
Summary: This study aims to compare the societal financial costs and quality of life (QoL) between untreated patients with spinal muscular atrophy (SMA) and treated patients identified by symptoms or early testing. The results show that the total costs are lower for untreated patients, but lower for patients identified by early testing. Early patient identification and treatment can reduce the overall societal costs of SMA.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Food Science & Technology
Benoit Renaud, Caroline-Julia Kruse, Anne-Christine Francois, Lisa Grund, Carolin Bunert, Lucie Brisson, Francois Boemer, Gilbert Gault, Barbara Ghislain, Thierry Petitjean, Pascal Gustin, Dominique-Marie Votion
Summary: This study investigated the effects of Acer pseudoplatanus toxin on species not previously considered at risk. The results showed that intoxication with HGA from Acer pseudoplatanus caused clinical symptoms and alterations in acylcarnitines profile in Bovidae, while proximal fermenters seemed to be less susceptible to this toxin.
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Article
Biochemistry & Molecular Biology
Aime Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, Francois Boemer, Andre Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours
Summary: This study evaluated the feasibility, turnaround time, yield, and utility of rapid whole genome sequencing (rWGS) in critically ill pediatric patients in Belgium. The results showed that rWGS led to a definite diagnosis in 12 patients within an average of 39.80 hours, and identified unexpected diagnoses in 7 patients. rWGS guided care adjustments for diagnosed patients. The study successfully implemented the fastest rWGS platform in Europe and obtained one of the highest rWGS yields, establishing the path for a nationwide semi-centered rWGS network in Belgium.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Nutrition & Dietetics
Anne-Francoise Rousseau, Alice Dongier, Camille Colson, Pauline Minguet, Jean-Olivier Defraigne, Gregory Minguet, Benoit Misset, Francois Boemer
Summary: The study investigated the changes in acylcarnitine (AC) profile during ICU stay. It was found that patients with a prolonged ICU stay had higher levels of short-chain AC derivatives compared to reference ranges. The study also revealed differences in AC profile between patients with a short ICU stay and those with >7-day multiple organ dysfunction.
Article
Agriculture, Dairy & Animal Science
Johannes Sander, Michael Terhardt, Nils Janzen, Benoit Renaud, Caroline-Julia Kruse, Anne-Christine Francois, Clovis P. Wouters, Francois Boemer, Dominique-Marie Votion
Summary: Equids kept at pasture are at risk of being intoxicated by ingesting sycamore maple seeds or seedlings, which contain the two non-proteinogenic amino acids hypoglycin A and methylenecyclopropylglycine. These amino acids are converted into effective toxins by metabolic processes, inducing severe damage to oxidative muscles. The highest concentration of active toxins was found in muscles, and inhibiting the conversion of protoxins into toxic metabolites could be a possible therapeutic approach.
Article
Pediatrics
Faiza Meiouet, Saad El Kabbaj, Rachid Abilkassem, Francois Boemer
Summary: This study aims to determine the disease spectrum and frequency of inborn errors of metabolism (IEM) in Morocco. The results show that various types of IEM, including amino acid disorders, fatty acid oxidation disorders, and organic acidemias, are present in Morocco. The study highlights the significance of using mass spectrometry (MS/MS) for early diagnosis and management of these disorders.
Article
Genetics & Heredity
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterstroem, Shlomo Almashanu, Francois Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijaervi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiene, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C. J. Schielen
Summary: Neonatal screening in Europe has been evolving since the 1960s, with significant progress made between 2010 and 2020 in terms of methodological advancements and expansion of screened conditions. Collaboration within Europe is increasing, which is crucial for timely detection and intervention for newborns with rare diseases.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2021)
Article
Hematology
Paul Kambale-Kombi, Roland Marini Djang'eing'a, Jean-Pierre Alworong'a Opara, Jean-Marc Minon, Francois Boemer, Vincent Bours, Serge Tonen-Wolyec, Charles Kayembe Tshilumba, Salomon Batina-Agasa
Summary: The study conducted in Kisangani, DRC, revealed insufficient management practices for SCD patients in the area. The need for the Congolese government to prioritize this disease and take actions to improve its management is highlighted.
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)
