Article
Immunology
Jessica S. Kleer, Pascal A. Rabatscher, Jessica Weiss, Joel Leonardi, Severin B. Vogt, Andrea Kieninger-Grafitsch, Carlo Chizzolini, Uyen Huynh-Do, Camillo Ribi, Marten Trendelenburg
Summary: The study found that epitope-specific anti-C1q in SLE patients is associated with specific disease manifestations, providing more diagnostic value than conventional anti-C1q.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Jing Han, Zhuochao Zhou, Rongrong Zhang, Yijun You, Zizhen Guo, Jinyan Huang, Fan Wang, Yue Sun, Honglei Liu, Xiaobing Cheng, Yutong Su, Hui Shi, Qiongyi Hu, Jialin Teng, Chengde Yang, Shifang Ren, Junna Ye
Summary: This study found that the glycosylation of anti-dsDNA IgG was different from that of total IgG, and fucosylation of anti-dsDNA IgG1 correlated best with SLE disease activity.
Article
Immunology
Xiaoying Shang, Lisheng Ren, Guirong Sun, Teng Yu, Yuan Yao, Lin Wang, Fenghai Liu, Lijun Zhang, Xiaqin He, Mingjun Liu
Summary: The study showed that anti-C1q, anti-dsDNA, anti-Nucleosome, and anti-Histone antibodies are valuable in diagnosing active lupus nephritis and monitoring systemic lupus erythematosus disease activity. These antibodies correlated positively with SLE disease activity index, with anti-Nucleosome showing the highest correlation coefficient. The levels of these antibodies decreased following treatment and the changes were positively correlated with SLE disease activity index variations.
IMMUNITY INFLAMMATION AND DISEASE
(2021)
Review
Immunology
Michelle E. Orme, Anja Voreck, Redha Aksouh, Rosalind Ramsey-Goldman, Marco W. J. Schreurs
Summary: This meta-analysis reviewed the diagnostic performance of anti-dsDNA testing and found that the specificity of FEIA dsDNA is >90% for SLE, meeting the 2019 classification criteria.
AUTOIMMUNITY REVIEWS
(2021)
Article
Hematology
Alejandra Maria Patino-Trives, Carlos Perez-Sanchez, Laura Perez-Sanchez, Maria Luque-Tevar, M. Carmen Abalos-Aguilera, Lourdes Alcaide-Ruggiero, Ivan Arias-de la Rosa, Cristobal Roman-Rodriguez, Pedro Segui, Mario Espinosa, Pilar Font, Nuria Barbarroja, Alejandro Escudero-Contreras, Jose Antonio Gonzalez-Reyes, Jose Manuel Villalba, Eduardo Collantes-Estevez, M. Angeles Aguirre-Zamorano, Chary Lopez-Pedrera
Summary: The presence of anti-double stranded DNA (anti-dsDNA) antibodies in patients with systemic lupus erythematosus is associated with an increased cardiovascular risk. This is possibly due to alterations in key molecular processes that drive immune and vascular activation, leading to endothelial dysfunction, proatherogenic dyslipidemia, and accelerated atherosclerosis.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Review
Rheumatology
Adrian Y. S. Lee
Summary: This review article summarizes the current knowledge of the IgA isotype of anti-double-stranded DNA autoantibodies in systemic lupus erythematosus, focusing on its clinical associations and potential links with lupus nephritis.
Article
Immunology
Zhenrui Shi, Yu-ping Zhang, Dan Hong, Xiaonan Qiu, Lin Zheng, Lijuan Bian, Fengqiu Hu, Liuyu Chen, Hui Xiong, Qiongqiong Yang, Shanping Jiang, Guozhen Tan, Liangchun Wang
Summary: Vascular inflammation can occur in various organs and tissues in patients with systematic lupus erythematosus (SLE), with the skin being the most common site. Anti-galectin-3 (Gal3) antibodies are identified as an important mediator of lupus cutaneous vasculopathy. The dys-regulation of vascular endothelial cells by anti-Gal3 antibodies leads to increased production of IL-10, which is dependent on NLRP3 inflammasome. Injection of anti-Gal3 antibodies in mice induces local inflammation with immune cell infiltration, which can be inhibited by blocking IL-10. Induction of anti-Gal3 antibodies in circulation not only causes skin histopathologic changes but also systemic autoimmune phenotypes and kidney damage. IL-10 overexpression is primarily associated with skin lesions in mice. The serum levels of IL-10 are comparable between SLE patients and healthy donors, but there is higher IL-10 expression in the local area of lupus skin lesions. These results suggest the important role of IL-10 in mediating anti-Gal3 antibody-induced skin vascular inflammation and the potential use of IL-10 blocking therapies in treating lupus cutaneous damage.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2022)
Article
Immunology
Yingxin Dai, Enling Li, Dandan Chen, Xiangyu Niu, Zhiqing Wang, Liangjing Lu, Bing Zheng
Summary: Monospecific autoantibodies to dense fine speckles 70 (DFS70) antigen are prevalent in Chinese SLE patients and are positively associated with anti-dsDNA. There is consistent dynamic variation between anti-DFS70 and anti-dsDNA during follow-up.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Pharmacology & Pharmacy
Yuka Kawato, Hidehiko Fukahori, Koji Nakamura, Atsuo Kanno, Kaori Kubo, Masaki Hiramitsu, Toshihiro Matsuda, Yuichi Hanada, Takako Furukawa, Yutaka Nakajima, Fumitaka Kinugasa, Tatsuaki Morokata
Summary: The presence of CatS in SLE patients suggests its involvement in the pathogenesis, making it a potential therapeutic target for SLE treatment.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Huang-Chen Chang, Yen-Ching Wu, Jun-Peng Chen, Yi-Da Wu, Wen-Nan Huang, Yi-Hsing Chen, Yi-Ming Chen
Summary: This study compared the results of anti-dsDNA antibodies obtained using CIA and ELISA, finding that CIA exhibited higher predictive power for diagnosing LN. The inconsistent group had lower anti-C1q circulating immune complexes antibody values and SLEDAI scores.
Article
Medical Laboratory Technology
Jian-Jun Huang, Tong-Jun Mao, Zi-Yu Zhang, Gang Feng
Summary: The study investigates the role of lymphocyte-bound C4d and immunoglobulins in the diagnosis and monitoring of SLE. The levels of C4d and Igs were measured in SLE patients, patients with other inflammatory diseases, and healthy individuals. The results suggest that LB-C4d/Igs could be used as reliable indicators for SLE diagnosis and activity monitoring.
CLINICAL BIOCHEMISTRY
(2023)
Article
Immunology
Mi-Ae Lyu, Ximing Tang, Joseph D. Khoury, Maria Gabriela Raso, Meixian Huang, Ke Zeng, Mitsutaka Nishimoto, Hongbing Ma, Tara Sadeghi, Christopher R. Flowers, Simrit Parmar
Summary: This study found that treatment with UCB-Tregs can reduce the inflammatory burden in SLE, decrease autoantibody production, and improve kidney function. UCB-Tregs have the potential to be a therapeutic option for lupus nephritis.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Rheumatology
Michelle Petri, Steven D. Watts, Richard E. Higgs, Matthew D. Linnik
Summary: The study used combinatorial analysis of four molecular biomarkers to classify SLE patients into subsets, revealing differences in clinical manifestations, medication use, geography, time to severe flare, and SRI-4 response rate.
Article
Rheumatology
Anna Hedenstedt, Sarah Reid, Ahmed Sayadi, Maija-Leena Eloranta, Elisabeth Skoglund, Karin Bolin, Martina Frodlund, Karoline Lerang, Andreas Joensen, Solbritt Rantapaeae-Dahlqvist, Anders A. Bengtsson, Anna Rudin, Oyvind Molberg, Christopher Sjoewall, Johanna K. Sandling, Dag Leonard
Summary: This study found that the genetic burden related to B cell function is associated with dsDNA antibody development and lupus nephritis in SLE patients.
LUPUS SCIENCE & MEDICINE
(2023)
Review
Rheumatology
Luis Alonso Gonzalez, Manuel Francisco Ugarte-Gil, Graciela S. Alarcon
Summary: There has been an increasing interest in discovering and validating biomarkers for lupus, but few have been successfully utilized in clinical practice. Further validation in large-scale studies and identification of better biomarkers are needed for diagnosis, monitoring, and predicting disease activity. Novel omics techniques also offer new insights in understanding the molecular basis of lupus and identifying potential therapeutic targets.
Article
Gastroenterology & Hepatology
Emma Monique Saelens, Stephanie Van Biervliet, Saskia Vande Velde, Myriam Van Winckel, Xavier Rogiers, Aude Vanlander, Liesbeth Daniels, Carolien Bonroy, Ruth M. L. De Bruyne
Summary: In pediatric liver transplant recipients, the presence of AAb and DSA is associated with patient characteristics, histological and biochemical parameters during follow-up. Positive AAb are linked to higher liver function indicators and more liver biopsies, while DSA positivity is associated with T-cell mediated rejection and elevated bilirubin and gamma-GT levels.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2021)
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
Immunology
Lucia del Pino-Molina, Eduardo Lopez-Granados, Quentin Lecrevisse, Juan Torres Canizales, Martin Perez-Andres, Elena Blanco, Marjolein Wentink, Carolien Bonroy, Jana Nechvatalova, Tomas Milota, Anne-Kathrin Kienzler, Jan Philippe, Ana E. Sousa, Mirjam van der Burg, Tomas Kalina, Jacques J. M. van Dongen, Alberto Orfao
Summary: The maturation of pre-GC B-cells in CVID patients is systematically altered, with up to four distinctly altered maturation profiles identified. Further studies are needed to understand the impact of these alterations on post-GC defects and the clinical heterogeneity of CVID.
FRONTIERS IN IMMUNOLOGY
(2021)
Letter
Rheumatology
Jean-Baptiste Vulsteke, Yves Piette, Carolien Bonroy, Patrick Verschueren, Daniel Blockmans, Steven Vanderschueren, Kristl G. Claeys, Petra De Haes, Jan Leo Lenaerts, Wim A. Wuyts, Takashi Matsushita, Vanessa Smith, Ellen De Langhe, Xavier Bossuyt
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Rheumatology
Els Vandecasteele, Karin Melsens, Amber Vanhaecke, Daniel Blockmans, Carolien Bonroy, Charlotte Carton, Ellen Deschepper, Filip De Keyser, Frederic Houssiau, Yves Piette, Marie Vanthuyne, Koen Verbeke, Rene Westhovens, Wim A. Wuyts, Ellen De Langhe, Guy Brusselle, Vanessa Smith
Summary: Analysis of follow-up data of SSc patients in Belgium reveals significant prevalence and incidence rates of ILD in SSc, emphasizing the need for close monitoring of lung function and progression. The low prevalence and incidence rates of ILD in the early SSc subgroup may provide valuable insight for future development of follow-up pathways for early SSc patients.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2021)
Review
Immunology
Yves Piette, Valerie Reynaert, Amber Vanhaecke, Carolien Bonroy, Jan Gutermuth, Alberto Sulli, Maurizio Cutolo, Vanessa Smith
Summary: This systematic review examines the value of nailfold videocapillaroscopy (NVC) in idiopathic inflammatory myopathies (IIM). The study finds significant differences in NVC outcomes between (juvenile) dermatomyositis, other inflammatory myopathies, healthy controls, and systemic sclerosis patients. Reduced capillary density and scleroderma pattern appear to be associated with active disease in (juvenile) dermatomyositis, while immunosuppressive treatment seems to reduce NVC abnormalities.
AUTOIMMUNITY REVIEWS
(2022)
Article
Rheumatology
Lieve Van Hoovels, Bert Vander Cruyssen, Daniela Sieghart, Carolien Bonroy, Eszter Nagy, Rille Pullerits, Sasa Cucnik, Charlotte Dahle, Ingmar Heijnen, Luca Bernasconi, Farid Benkhadra, Laura Bogaert, Stefanie Van den Bremt, Ann Van Liedekerke, Geert Vanheule, Johan Robbrecht, Lucy Studholme, Claudine Wirth, Ruediger Mueller, Diego Kyburz, Christopher Sjowall, Alf Kastbom, Rok Jese, Boja Jovancevic, Emese Kiss, Peggy Jacques, Daniel Aletaha, Guenter Steiner, Patrick Verschueren, Xavier Bossuyt
Summary: This study aimed to refine the interpretation of RF and ACPA across commercial assays. By determining thresholds for antibody levels and assigning test result interval-specific LRs, clinical interpretation can be aligned for all RF and ACPA assays.
Article
Rheumatology
Lieve Van Hoovels, Lucy Studholme, Bert Vander Cruyssen, Daniela Sieghart, Carolien Bonroy, Eszter Nagy, Rille Pullerits, Sasa Cucnik, Charlotte Dahle, Ingmar Heijnen, Luca Bernasconi, Farid Benkhadra, Laura Bogaert, Stefanie Van den Bremt, Ann Van Liedekerke, Geert Vanheule, Johan Robbrecht, Claudine Wirth, Ruediger Mueller, Diego Kyburz, Christopher Sjowall, Alf Kastbom, Rok Jese, Boja Jovancevic, Emese Kiss, Peggy Jacques, Daniel Aletaha, Guenter Steiner, Patrick Verschueren, Xavier Bossuyt
Summary: Commercial assays measuring antibodies to citrullinated protein/peptide (ACPA) show poor quantitative agreement, as they have not adopted an international standard. The candidate NIBSC 18/204 standard improved the standardization of most ACPA assays.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Medical Laboratory Technology
Marie-Agnes Dragon-Durey, Nicola Bizzaro, Marie Senant, Hristina Andreeva, Dimitrios P. Bogdanos, Carolien Bonroy, Xavier Bossuyt, Catharina Eriksson, Nicole Fabien, Ingmar Heijnen, Manfred Herold, Lucile Musset, Liisa Kuhi, Marcos Lopez-Hoyos, Timea Berki, Caroline Roozendaal, Ulrich Sack, Tatjana Sundic, Lorna Taylor, Andrea Tesija Kuna, Jan Damoiseaux
Summary: This study presents an international repository of intra- and inter-run variations for quantitative autoantibody assays. The results show that the method of immunoassay, the level and nature of the internal quality control (IQC), and the antibody level have significant impacts on the assay performances. The type of autoantibody, however, has minimal effect. These findings are important for ISO 15189 accreditation requirements and ensuring the quality of patient results in clinical diagnostic laboratories.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2022)
Article
Medical Laboratory Technology
Lieve Van Hoovels, Bert Vander Cruyssen, Daniela Sieghart, Carolien Bonroy, Eszter Nagy, Rille Pullerits, Sasa Cucnik, Charlotte Dahle, Ingmar Heijnen, Luca Bernasconi, Farid Benkhadra, Laura Bogaert, Stefanie Van den Bremt, Ann Van Liedekerke, Geert Vanheule, Johan Robbrecht, Lucy Studholme, Claudine Wirth, Ruediger Mueller, Diego Kyburz, Christopher Sjowall, Alf Kastbom, Rok Jese, Boja Jovancevic, Emese Kiss, Peggy Jacques, Daniel Aletaha, Guenter Steiner, Patrick Verschueren, Xavier Bossuyt
Summary: Rheumatoid factor (RF) is an important marker for the diagnosis and classification of rheumatoid arthritis (RA), but IgA RF has lower sensitivity compared to IgM RF. Combining IgA RF with IgM RF and anti-citrullinated protein antibodies (ACPA) does not improve the sensitivity of RA classification, but it can increase specificity.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2022)
Article
Immunology
Jana Neirinck, Annelies Emmaneel, Malicorne Buysse, Jan Philippe, Sofie Van Gassen, Yvan Saeys, Xavier Bossuyt, Stefanie De Buyser, Mirjam van der Burg, Martin Perez-Andres, Alberto Orfao, Jacques J. M. van Dongen, Bart N. Lambrecht, Tessa Kerre, Mattias Hofmans, Filomeen Haerynck, Carolien Bonroy
Summary: The study tested PIDOT in 887 consecutive patients suspicious of PID and found that it has high sensitivity and specificity for diagnosing lymphoid-PID, particularly for discriminating patients with SCID, ID, and CVID. The combination of PIDOT and serum immunoglobulin levels can guide further immunophenotypic FCM analyses for accurate PID diagnostics.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medical Laboratory Technology
Martine Vercammen, Carolien Bonroy, Sylvia Broeders, Edward K. L. Chan, Nicola P. Bizzaro, Dimitrios Bogdanos, Luis Andrade, Wim Coucke, Wilson de Melo Cruvinel, Ana Kozmar, Liisa Kuhi, Laurence Lutteri, Maria Jose Rego de Sousa, Sofie Schouwers, Lieve Van Hoovels, Xavier Bossuyt
Summary: A questionnaire was distributed to 414 laboratories to assess the methodology and quality control of HEp-2 IFA. The results showed significant variability in the performance and control of HEp-2 IFA. Adhering to the EFLM/EASI/ICAP ANA recommendations can enhance the global performance and quality of HEp-2 IFA.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Immunology
Jan Damoiseaux, Judith Potjewijd, Ruben L. Smeets, Carolien Bonroy
Summary: The classification criteria for systemic sclerosis (SSc) by ACR/EULAR includes three autoantibodies: anti-centromere antibodies (ACA), anti-topoisomerase I antibodies (ATA), and anti-RNA-polymerase III antibodies (ARA). The importance of ACA and ATA is well-supported by evidence, although their diagnostic value is overestimated by clinicians. These autoantibodies, fortunately, show good agreement across different immuno-assays. However, the inclusion of ARA is based on limited evidence and there is limited agreement across different immuno-assays. Harmonization of immuno-assays through likelihood ratio-based interpretation may improve future SSc classification criteria, requiring close collaboration between clinicians, laboratory specialists, and the diagnostic industry.
JOURNAL OF TRANSLATIONAL AUTOIMMUNITY
(2022)
Article
Immunology
Carolien Bonroy, Yves Piette, Yves Allenbach, Xavier Bossuyt, Jan Damoiseaux
Summary: The importance of detecting myositis-specific antibodies (MSA) and myositis-associated antibodies (MAA) in the diagnosis and classification of idiopathic inflammatory myopathy (IIM) is widely acknowledged by experts. However, the lack of sufficient data on MSA/MAA in large cohorts has hindered their inclusion in data-based classification criteria. In addition, commercially available assays for detecting MSA/MAA show variable performance characteristics, which poses challenges for future studies and routine clinical use. Collaboration between clinical experts, laboratory professionals, and diagnostic companies is encouraged to overcome these hurdles.
JOURNAL OF TRANSLATIONAL AUTOIMMUNITY
(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)