Article
Immunology
Li Wu, Xuhui Fang, Fangting Lu, Yu Zhang, Yanshi Wang, Joanne Kwak-Kim
Summary: This study aimed to evaluate the effects of anticardiolipin (aCL) and/or anti-beta 2-glycoprotein-I (a beta 2GPI) antibodies, known as antiphospholipid antibodies (aPL), on in vitro fertilization (IVF) outcomes. The results showed that infertile women with aPL had worse outcomes in terms of oocyte quality, embryo quality, and implantation capacity. Imbalanced T cell subset ratios and elevated levels of certain cytokines were noticed in these women compared to controls.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medical Laboratory Technology
Sarra Melayah, Mariem Ghozzi, Ibtissem Ghedira, Amani Mankai
Summary: This study found that antiphospholipid antibodies (aPL) were common in patients with articular manifestations, mainly directed against beta(2)GPI. However, the role of these antibodies remains to be specified.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Review
Hematology
Debbie Jiang, Wendy Lim, Mark Crowther, David Garcia
Summary: The presence of anti-B2GPI is weakly associated with thrombosis and inconsistently associated with obstetric complications, with very low-quality evidence and study heterogeneity preventing a quantitative assessment.
Review
Medicine, General & Internal
Arne Vandevelde, Katrien M. J. Devreese
Summary: The diagnosis and risk stratification of antiphospholipid syndrome (APS) are complex and require various laboratory tests. Efforts to standardize and optimize these tests are ongoing to improve diagnostic accuracy and repeatability. There are challenges in laboratory testing, such as interference by anticoagulation therapy for LAC detection and high variability due to different reagents and detection techniques.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Immunology
Rohan Willis, Thomas C. R. McDonnell, Charis Pericleous, Emilio B. Gonzalez, Alvaro Schleh, Zurina Romay-Penabad, Ian P. Giles, Anisur Rahman
Summary: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by vascular thrombosis and pregnancy morbidity. The current treatment options have limitations, and there is a need for more targeted therapies. Researchers developed a modified protein variant using site-specific chemical addition of polyethylene glycol (PEG), which effectively inhibited thrombus formation caused by pathogenic antibodies. These findings provide further evidence supporting the potential efficacy of PEG-modified protein as a treatment option for APS.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Sonia Guadalupe Barreno-Rocha, Sandra Guzman-Silahua, Sinai-del-Carmen Rodriguez-Davila, Guadalupe Estela Gavilanez-Chavez, Ernesto German Cardona-Munoz, Carlos Riebeling-Navarro, Benjamin Rubio-Jurado, Arnulfo Hernan Nava-Zavala
Summary: Phospholipids, a main type of lipids involved in cell membrane formation, are essential for tumor cell survival. Antiphospholipid antibodies target phospholipids in cell membranes and have been found to be present in hematological neoplasms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Rheumatology
Gustavo G. M. Balbi, Yasaman Ahmadzadeh, Maria G. Tektonidou, Vittorio Pengo, Savino Sciascia, Amaia Ugarte, H. Michael Belmont, Chary Lopez-Pedrera, Paul R. Fortin, Denis Wahl, Maria Gerosa, Guilherme R. de Jesus, Lanlan Ji, Tatsuya Atsumi, Maria Efthymiou, D. Ware Branch, Cecilia Nalli, Esther Rodriguez Almaraz, Michelle Petri, Ricard Cervera, Jason S. Knight, Bahar Artim-Esen, Rohan Willis, Maria Laura Bertolaccini, Hannah Cohen, Robert Roubey, Doruk Erkan, Danieli Castro Oliveira de Andrade
Summary: The objective of this study was to quantify the damage burden measured by Damage Index for Antiphospholipid Syndrome (DIAPS) in aPL-positive patients with or without a history of thrombosis, and to identify clinical and laboratory characteristics associated with damage in these patients. The study found that DIAPS is of great significance in identifying patients with a higher damage burden and selected traditional cardiovascular risk factors, steroid use, and specific aPL profiles may help in identifying these patients.
Article
Hematology
Tessa Noordermeer, Jessica E. Molhoek, Roger E. G. Schutgens, Silvie A. E. Sebastian, Sandra Drost-Verhoef, Annet C. W. van Wesel, Philip G. de Groot, Joost C. M. Meijers, Rolf T. Urbanus
Summary: Anti-beta 2GPI and anti-prothrombin antibodies cause lupus anticoagulant (LA) through different mechanisms: anti-beta 2GPI antibodies interfere with FV activation by FXa through a direct interaction, while anti-prothrombin antibodies compete with FXa for phospholipid binding sites.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Medical Laboratory Technology
Risa Kaneshige, Yukari Motoki, Mika Yoshida, Kenji Oku, Eriko Morishita, Masahiro Ieko, Kiyoshi Ichihara, Junzo Nojima
Summary: This study evaluated and compared the upper reference limits (URL) and diagnostic accuracy of five commercial assays for diagnosing antiphospholipid syndrome (APS). The results showed that 97.5%URL, which is closer to the cutoff value, is recommended for diagnosing APS.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Medical Laboratory Technology
En-Yu Liang, Pei-Feng Ke, Guo-Hua Li, Hui Huang, Wu-Jiao Huang, Rui-Ping Liu, Xian-Zhang Huang, Min He
Summary: The study validated the analytical performance of anticardiolipin antibodies and anti-beta 2-glycoprotein I antibodies on a high-throughput automated immunoassay platform. The results showed that the data obtained met the standards, with a good linear relationship.
CLINICAL LABORATORY
(2021)
Article
Immunology
Katarina Kmet'ova, Elena Lonina, Srilakshmi Yalavarthi, Jerrold S. Levine, Claire K. Hoy, Cyrus Sarosh, Kelsey Gockman, Alexandra E. Morris, Ajay Tambralli, Jacqueline A. Madison, Yu Zuo, Rebecca Subang, Joyce Rauch, Jason S. Knight
Summary: β2GPI can bind not only to phospholipids, but also to cell-free DNA and neutrophil extracellular traps (NETs). The study showed that β2GPI interacts with cell-free DNA and NETs in a dose-dependent manner, retarding their migration. The authors also demonstrated the presence of β2GPI-DNA complexes in the plasma of APS patients, suggesting a potential role of this interaction in autoimmunity.
CLINICAL IMMUNOLOGY
(2023)
Article
Rheumatology
Elena Gkrouzman, Ecem Sevim, Jackie Finik, Danieli Andrade, Vittorio Pengo, Savino Sciascia, Maria G. Tektonidou, Amaia Ugarte, Cecilia B. Chighizola, H. Michael Belmont, Chary Lopez-Pedrera, Lanlan Ji, Paul Fortin, Maria Efthymiou, Guilherme Ramires de Jesus, D. Ware Branch, Cecilia Nalli, Michelle Petri, Esther Rodriguez, Ricard Cervera, Jason S. Knight, Tatsuya Atsumi, Rohan Willis, Maria Laura Bertolaccini, Hannah Cohen, Jacob Rand, Doruk Erkan
Summary: The study revealed that approximately 80% of patients with persistently antiphospholipid antibody (aPL) positive remained stable in their aPL profiles over a 5-year follow-up period. Additionally, the decrease in triple aPL positivity at baseline was associated with increased odds of stable aPL profile.
JOURNAL OF RHEUMATOLOGY
(2021)
Article
Rheumatology
Amaia Ugarte, Alazne Garcia de Bustos, Ioana Ruiz-Arruza, Adriana Soto-Peleteiro, Daniel Martin-Iglesias, Cristina Gonzalez-Echavarri, Guillermo Ruiz-Irastorza
Summary: This study compared the influence of aPLs on global and cardiovascular damage in patients with SLE diagnosed before and after the year 2000. The results showed that the effects of aPL on damage accrual in SLE patients have been reduced over recent years, possibly due to the widespread use of HCQ and improved thromboprophylaxis.
Article
Medicine, Research & Experimental
Elena Gkrouzman, Rohan Willis, Danieli Andrade, Maria G. Tektonidou, Vittorio Pengo, Guillermo Ruiz-Irastorza, H. Michael Belmont, Paul R. Fortin, Maria Gerosa, Flavio Signorelli, Tatsuya Atsumi, D. Ware Branch, Cecilia Nalli, Esther Rodriguez-Almaraz, Michelle A. Petri, Ricard Cervera, Jason S. Knight, Maria Efthymiou, Hannah Cohen, Maria Laura Bertolaccini, Doruk Erkan, Robert Roubey
Summary: A study found that different profiles of antiphospholipid antibody (aPL) are associated with the clinical manifestations of antiphospholipid syndrome (APS), particularly higher levels of anticardiolipin antibody (aCL) and anti -b2 glycoprotein-I antibody (ab2GPI). The study also identified overlapping antibody detection methods and proposed a calculation method to assess the overall burden of aPL.
LABORATORY INVESTIGATION
(2023)
Review
Biochemistry & Molecular Biology
Ilaria Mormile, Francescopaolo Granata, Alessandra Punziano, Amato de Paulis, Francesca Wanda Rossi
Summary: Antiphospholipid syndrome is characterized by thrombosis and pregnancy complications in patients with antiphospholipid antibodies. Lifelong anticoagulation is the main therapy, but immunosuppressant drugs may offer new options for managing associated complications.
Article
Allergy
Laura Andreoli, Cecilia Nalli, Maria Grazia Lazzaroni, Chiara Carini, Francesca Dall'Ara, Rossella Reggia, Marilia Rodrigues, Carolina Benigno, Elena Baldissera, Elena Bartoloni, Fabio Basta, Francesca Bellisai, Alessandra Bortoluzzi, Corrado Campochiaro, Francesco Paolo Cantatore, Roberto Caporali, Angela Ceribelli, Cecilia B. Chighizola, Paola Conigliaro, Addolorata Corrado, Maurizio Cutolo, Salvatore D'Angelo, Elena De Stefani, Andrea Doria, Maria Favaro, Colomba Fischetti, Rosario Foti, Armando Gabrielli, Elena Generali, Roberto Gerli, Maria Gerosa, Maddalena Larosa, Armin Maier, Nazzarena Malavolta, Marianna Meroni, Pier Luigi Meroni, Carlomaurizio Montecucco, Marta Mosca, Melissa Padovan, Giuseppe Paolazzi, Giulia Pazzola, Susanna Peccatori, Roberto Perricone, Giorgio Pettiti, Valentina Picerno, Immacolata Prevete, Veronique Ramoni, Nicoletta Romeo, Amelia Ruffatti, Carlo Salvarani, Gian Domenico Sebastiani, Carlo Selmi, Francesca Serale, Luigi Sinigaglia, Chiara Tani, Marica Trevisani, Marta Vadacca, Eleonora Valentini, Guido Valesini, Elisa Visalli, Ester Vivaldelli, Lucia Zuliani, Angela Tincani
Summary: Concerns about the health of offspring are one reason for reduced family sizes among women with rheumatic diseases (RD). However, data gathered from a survey of 398 patients diagnosed with RD during childbearing age indicate that the risk of autoimmune diseases (AD) and neurodevelopmental disorders (ND) in their children is relatively low.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2022)
Review
Gastroenterology & Hepatology
Alberto Zanetto, Elena Campello, Filippo Pelizzaro, Fabio Farinati, Patrizia Burra, Paolo Simioni, Marco Senzolo
Summary: Venous thrombosis is a common complication in cancer, Hepatocellular carcinoma (HCC) is the most common primary liver cancer. It is associated with preexisting cirrhosis in 90% of cases. Patients with cirrhosis are more prone to bleed or thrombotic complications. There is evidence that HCC may increase the risk of venous thrombosis in cirrhosis patients. However, there are currently no specific guidelines for risk stratification and management of thromboprophylaxis in patients with cirrhosis and HCC.
LIVER INTERNATIONAL
(2022)
Review
Gastroenterology & Hepatology
Massimiliano Cadamuro, Alberto Lasagni, Samantha Sarcognato, Maria Guido, Roberto Fabris, Mario Strazzabosco, Alastair J. Strain, Paolo Simioni, Erica Villa, Luca Fabris
Summary: NAFLD is the most common liver disease worldwide, linked to metabolic syndrome and insulin resistance. NASH is a severe form of NAFLD that may progress to cirrhosis and liver cancer. Research aims to investigate the effects of adipokines and metabolic alterations on cholangiocytes to understand the mechanisms driven by insulin resistance in NASH.
SEMINARS IN LIVER DISEASE
(2022)
Article
Hematology
Giacomo Turatti, Ugo Fedeli, Luca Valerio, Frederikus A. Klok, Alexander T. Cohen, Beverley J. Hunt, Paolo Simioni, Saskia Middeldorp, Walter Ageno, Nils Kucher, Stavros Konstantinides, Elena Schievano, Stefano Barco
Summary: A study in the Veneto region of Italy from 2008 to 2019 found that the mortality rate related to splanchnic vein thrombosis (SVT) showed different trends, with an average annual increase of 5.7% in women and a decrease of 1.2% in men. Concurrent liver disease and gastrointestinal cancers are associated with SVT-related death to some extent.
THROMBOSIS RESEARCH
(2022)
Article
Medicine, Research & Experimental
Federico Capone, Alberto Cipriani, Leonardo Molinari, Anna Poretto, Nicolo Sella, Annalisa Boscolo, Elena Campello, Alois Saller, Roberto Vettor, Paolo Navalesi, Anna Maria Cattelan, Paolo Simioni, Luca Spiezia
Summary: This study aimed to investigate the association between cardiac injury and abnormal coagulative state in hospitalized COVID-19 patients. The results showed no significant differences in traditional coagulation parameters between patients with and without cardiac injury, but abnormal MCF levels were observed in 80% of patients in FIBTEM assay. Cardiac injury was found to be associated with mortality.
ADVANCES IN MEDICAL SCIENCES
(2022)
Article
Obstetrics & Gynecology
Amelia Ruffatti, Alessia Cerutti, Marta Tonello, Maria Favaro, Teresa Del Ross, Antonia Calligaro, Chiara Grava, Margherita Zen, Ariela Hoxha, Giovanni Di Salvo
Summary: This study compared the short and long-term outcomes of children with anti-Ro/La-related congenital heart block treated with a combined maternal-neonatal therapy protocol with those treated with other therapies. The combined therapy group showed a lower progression rate of block, higher heart rate at birth, and fewer pacemaker implants during post-natal follow-up compared to the control group.
JOURNAL OF PERINATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Alberto Zanetto, Elena Campello, Patrizia Burra, Marco Senzolo, Paolo Simioni
Summary: Alterations in platelet aggregation may predict portal vein thrombosis (PVT) in patients with decompensated cirrhosis. The PLT ratio obtained from whole-blood aggregometry is a promising thrombotic biomarker.
LIVER INTERNATIONAL
(2023)
Letter
Medicine, General & Internal
Chiara Simion, Elena Campello, Andrea Boccatonda, Daniela Tormene, Luca Spiezia, Fabio Dalla Valle, Marta Sartori, Nicola Perin, Chiara Forestan, Paolo Simioni
INTERNAL AND EMERGENCY MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Massimiliano Cadamuro, Samantha Sarcognato, Riccardo Camerotto, Noemi Girardi, Alberto Lasagni, Giacomo Zanus, Umberto Cillo, Enrico Gringeri, Giovanni Morana, Mario Strazzabosco, Elena Campello, Paolo Simioni, Maria Guido, Luca Fabris
Summary: Metabolic syndrome (MetS) is associated with the development of intrahepatic cholangiocarcinoma (iCCA), a liver tumor. MetS iCCAs have increased deposition of osteopontin (OPN), tenascin C (TnC), and periostin (POSTN) in the extracellular matrix (ECM), which stimulates cell motility and cancer-stem-cell-like phenotype. OPN overexpression may serve as a predictive biomarker and therapeutic target for MetS iCCA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Ariela Hoxha, Tania Tomaselli, Giacomo Maria Minicucci, Jacopo Dall'Acqua, Davide Zardo, Paolo Simioni, Luigi Naldi
Summary: Although real-life data support the efficacy and safety of SARS-CoV-2 vaccines, rare but severe adverse reactions are emerging. This report describes a case of hypereosinophilic syndrome (HES) following the BNT162b2 (BioNTech/Pfizer) vaccine. The patient developed erythematous and painful nodular lesions, acrocyanosis with gangrenous lesions, and paresthesia after receiving the vaccine. Investigations revealed eosinophilia, artery occlusion, and sensory neuropathy. Treatment with an IL-5 inhibitor and acetylsalicylic acid was successful. This case suggests a possible link between HES and the SARS-CoV-2 vaccination.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Luca Spiezia, Chiara Forestan, Elena Campello, Chiara Simion, Paolo Simioni
Summary: This case-control study aimed to identify the effect of persistently increased plasma FXI levels on the risk of deep vein thrombosis (DVT). The study found that elevated FXI levels constitute a risk factor for DVT, and this risk nearly doubled in patients with persistently increased FXI levels.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Medicine, General & Internal
Angela Napolitano, Laura De Michieli, Giulio Sinigiani, Tamara Berno, Alberto Cipriani, Luca Spiezia
Summary: Transthyretin amyloidosis (ATTR) is a group of diseases caused by insoluble fibril deposition from misfolded transthyretin. It affects various organs, including the heart. Thromboembolic events and increased bleeding risk are important complications of ATTR, but their underlying mechanisms are not fully understood.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Chemistry, Medicinal
Monica Chinellato, Matteo Gasparotto, Santina Quarta, Mariagrazia Ruvoletto, Alessandra Biasiolo, Francesco Filippini, Luca Spiezia, Laura Cendron, Patrizia Pontisso
Summary: In recent years, studies on the inflammatory signaling pathways have identified new targets for novel therapies. This research reveals that the small molecule 1-PPA can bind to PAR2 and exhibit antagonistic effects on its activity, potentially providing a promising new approach for the treatment of PAR2-related diseases.
Article
Rheumatology
A. Ruffatti, M. Tonello, A. Calligaro, T. Del Ross, M. Favaro, M. Zen, A. Carletto, V. Lotti, E. Bertoldo, F. Tedesco, A. Hoxha, D. Biasi
Summary: This study aimed to evaluate the clinical significance of complement activation products C5a and C5b-9 in quiescent phases of thrombotic antiphospholipid syndrome (APS). The results showed that TAPS patients had significantly lower levels of both complement activation products compared to RAPS and CAPS patients, and C5a and C5b-9 were significantly increased in patients with small-vessel thrombosis.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2022)
Article
Hematology
Sanne L. N. Brouns, Bibian M. E. Tullemans, Cristiana Bulato, Gina Perrella, Elena Campello, Luca Spiezia, Johanna P. van Geffen, Marijke J. E. Kuijpers, Rene van Oerle, Henri M. H. Spronk, Paola E. J. van der Meijden, Paolo Simioni, Johan W. M. Heemskerk
Summary: This study assessed the role of platelets in thrombus and fibrin formation in patients with protein C or protein S deficiency under high-shear flow conditions. The results showed that these patients had impaired platelet activation, thrombus phenotype, and fibrin formation, but unchanged platelet adhesion. The defect may be caused by negative platelet priming.
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
(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)