648 results
Search Results
2. Rebuttal of a paper submitted by Hans‐Inge Bengtsson
- Author
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Mina Hur, Gina Zini, Samuel J. Machin, Alexander Kratz, and Szu-Hee Lee
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Philosophy ,Biochemistry (medical) ,Clinical Biochemistry ,Rebuttal ,Hematology ,General Medicine ,Religious studies - Published
- 2020
3. Molecular diagnosis of hereditary hemolytic anemias: Recent updates.
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Agarwal, Archana M. and Rets, Anton V.
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GENETIC disorder diagnosis ,HEMOLYTIC anemia ,MOLECULAR diagnosis ,SEQUENCE analysis ,PAPER chromatography ,CELL membranes ,ELECTROPHORESIS ,ERYTHROPOIESIS ,ERYTHROCYTES ,POLYMERASE chain reaction - Abstract
Hereditary hemolytic anemia (HHA) is a heterogeneous group of disorders due to genetically caused defects in red blood cell membrane structure, enzymes, heme and globin synthesis, erythroid proliferation, and differentiation. Traditionally, the diagnostic process is complex and includes a plethora of tests from routine to highly specialized ones. The inclusion of molecular testing has significantly improved the diagnostic yield. The value of molecular testing is broader than just rendering the correct diagnosis, as it may also guide therapeutic decisions. As more molecular modalities become available for clinical use, it is imperative to understand their benefits and disadvantages pertaining to the HHA diagnostics. Re‐evaluation of the traditional diagnostic workflow may also bring forth additional benefits. This review focuses on the current state of molecular testing for HHA. [ABSTRACT FROM AUTHOR]
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- 2023
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- View/download PDF
4. Indolent T‐lymphoblastic proliferation: A systematic review of the literature analyzing the epidemiologic, clinical, and pathologic features of 45 cases.
- Author
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Saglam, Arzu, Singh, Kunwar, Gollapudi, Sumanth, Kumar, Jyoti, Brar, Nivaz, Butzmann, Alexandra, Warnke, Roger, and Ohgami, Robert S.
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ONLINE information services ,SYSTEMATIC reviews ,LYMPHOCYTIC leukemia ,CELL proliferation ,DESCRIPTIVE statistics ,MEDLINE ,DATA analysis software ,T-cell lymphoma - Abstract
An indolent T‐lymphoblastic proliferation (iT‐LBP) is a rare benign disorder characterized by an abnormal expansion of immature T‐cells, which morphologically can mimic malignancy. Since the first case was described in 1999, dozens more have been reported in the literature. However, the epidemiologic, clinical, pathologic, and biologic features of this disease have not been well described. Here, we retrospectively reviewed all known cases reported in the literature to better understand this entity. A PubMed search up to January 2022 highlighted 25 papers describing cases/case series of iT‐LBP, one of which was a case presentation in a slide workshop. Except for 9 of the cases in one of the papers, where it was evident that the number of CD3+/TdT+ cells were too few to conform with a diagnosis of iT‐LBP, all papers and all the cases reported were included in the study amounting to a total of 45 cases. Clinicopathologic characteristics were analyzed using descriptive statistics and frequencies. Our analysis highlighted the previously known association with Castleman disease and Castleman‐like features and underlined its association with dendritic cell proliferations in general, as well as uncovering high frequency of concurrence with hepatocellular carcinoma and autoimmune diseases, most notably myasthenia gravis, paraneoplastic pemphigus and paraneoplastic autoimmune multiorgan syndrome. Furthermore, the co‐expression of CD4 and CD8 and high prevalence of extranodal disease and recurrences were other less well described features that were revealed. [ABSTRACT FROM AUTHOR]
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- 2022
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5. Modification to reporting of qualitative fluorescent spot test results improves detection of glucose-6-phosphate dehydrogenase (G6PD)-deficient heterozygote female newborns.
- Author
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NADARAJAN, V., SHANMUGAM, H., STHANESHWAR, P., JAYARANEE, S., SULTAN, K. S., ANG, C., and ARUMUGAM, S.
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NEWBORN screening ,CLINICAL chemistry ,ENZYMES ,FLUORESCENCE microscopy ,GENES ,MOLECULAR diagnosis ,GENETIC mutation ,GLYCOGEN storage disease ,PAPER chromatography ,POLYMERASE chain reaction ,STAINS & staining (Microscopy) ,SEVERITY of illness index ,DATA analysis software ,GENETICS ,DIAGNOSIS - Abstract
Summary Introduction: The glucose-6-phosphate dehydrogenase (G6PD) fluorescent spot test (FST) is a useful screening test for G6PD deficiency, but is unable to detect heterozygote G6PD-deficient females. We sought to identify whether reporting intermediate fluorescence in addition to absent and bright fluorescence on FST would improve identification of mildly deficient female heterozygotes. Methods: A total of 1266 cord blood samples (705 male, 561 female) were screened for G6PD deficiency using FST (in-house method) and a quantitative enzyme assay. Fluorescence intensity of the FST was graded as either absent, intermediate or normal. Samples identified as showing absent or intermediate fluorescence on FST were analysed for the presence of G6PD mutations using TaqMan@SNP genotyping assays and direct nucleotide sequencing. Results: Of the 1266 samples, 87 samples were found to be intermediate or deficient by FST (49 deficient, 38 intermediate). Of the 49 deficient samples, 48 had G6PD enzyme activity of ≤ 9.5 U/g Hb and one sample had normal enzyme activity. All 38 intermediate samples were from females. Of these, 21 had G6PD activity of between 20% and 60%, and 17 samples showed normal G6PD activity. Twenty-seven of the 38 samples were available for mutation analysis of which 13 had normal G6PD activity. Eleven of the 13 samples with normal G6PD activity had identifiable G6PD mutations. Conclusion: Glucose-6-phosphate dehydrogenase heterozygote females cannot be identified by FST if fluorescence is reported as absent or present. Distinguishing samples with intermediate fluorescence from absent and bright fluorescence improves detection of heterozygote females with mild G6PD deficiency. Mutational studies confirmed that 85% of intermediate samples with normal enzyme activity had identifiable G6PD mutations. [ABSTRACT FROM AUTHOR]
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- 2011
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6. ICSH review of internal quality control policy for blood cell counters.
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McCafferty, Richard, Cembrowski, George, de la Salle, Barbara, Peng, Mingting, and Urrechaga, Eloisa
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MEDICAL protocols , *AUTOANALYZERS , *HEALTH policy , *HEALTH , *INFORMATION resources , *HEMATOLOGY , *PATHOLOGICAL laboratories , *QUALITY assurance - Abstract
Introduction: This paper is a report of an ICSH review of policies and practices for internal quality control (IQC) policy for haematology cell counters among regulatory bodies, cell counter manufacturers and diagnostic laboratories. It includes a discussion of the study findings and links to separate ICSH guidance for such policies and practices. The application of internal quality control (IQC) methods is an essential pre‐requisite for all clinical laboratory testing including the blood count (Full Blood Count, FBC, or Complete Blood Count, CBC). Methods: The ICSH has gathered information regarding the current state of practice through review of published guidance from regulatory bodies, a questionnaire to six major cell counter manufacturers (Abbott Diagnostics, Beckman Coulter, Horiba Medical Diagnostic Instruments & Systems, Mindray Medical International, Siemens Healthcare Diagnostics and Sysmex Corporation) and a survey issued to 191 diagnostic laboratories in four countries (China, Republic of Ireland, Spain and the United Kingdom) on their IQC practice and approach to use of commercial IQC materials. Results: This has revealed diversity both in guidance and in practice around the world. There is diversity in guidance from regulatory organizations in regard to IQC methods each recommends, clinical levels to use and frequency to run commercial controls, and finally recommended sources of commercial controls. The diversity in practice among clinical laboratories spans the areas of IQC methods used, derivation of target values and action limits used with control materials, and frequency of running commercial controls materials. Conclusions: These findings and their implications for IQC Practice are discussed in this paper. They are used to inform a separate guidance document, which proposes a harmonized approach to address the issues faced by diagnostic laboratories. [ABSTRACT FROM AUTHOR]
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- 2024
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7. Analysis of altered proteins related to blast crisis in chronic myeloid leukemia by proteomic study.
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ZHANG, J., JIN, Z., DU, Q., LI, R., YAO, F., HUANG, B., XU, N., XU, L., LUO, X., and LIU, X.
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PROTEIN analysis ,METHODS in Electrophoresis ,BONE marrow examination ,CELLULAR signal transduction ,COMPARATIVE studies ,DRUG resistance in cancer cells ,MASS spectrometry ,PAPER chromatography ,PEPTIDES ,PROBABILITY theory ,RESEARCH funding ,T-test (Statistics) ,WESTERN immunoblotting ,FLUORESCENCE in situ hybridization ,PROTEOMICS ,CHRONIC myeloid leukemia - Abstract
Introduction: Chromic myeloid leukemia (CML) blast crisis (BC) and imatinib (IM) resistance is a significant barrier to the effective treatment of the disease. Methods: Expression profiles of differential proteins were identified, and new biomarkers or pathways related to BC in CML were screened through proteomic analysis. Total proteins from primary bone marrow cells of CML patients in chronic phase (CP) and BC were separated via two-dimensional (2D) polyacrylamide gel electrophoresis and then analyzed by imagemaster 5.0 software to detect differential protein spots which were already identified by mass spectrometry. Based on the variation of the whole expression profile, some key proteins were picked out for Western blot to confirm the accuracy of proteomics data. Moreover, related signal pathways involving those proteins were investigated. Results: The result indicated that thirteen protein points between CML-CP and CML-BC were successfully determined. Results from Western blot of RhoA, hnRNPK, ANXA1, PSMB4, and LTA4H were similar to those from 2D polyacrylamide gel electrophoresis. Most of those proteins were involved in the proteosome pathway and the small G-protein pathway. Conclusion: A group of proteins associated with BC can be obtained and the result of this study might provide clues for further research. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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8. Systematic review about etiologic association to the leukoerythroblastic reaction.
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Tabares Calvache, Ebellins, Tabares Calvache, Allison Dessiret, and Faulhaber, Gustavo Adolpho Moreira
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ANEMIA ,BLOOD diseases ,BONE marrow ,INFORMATION storage & retrieval systems ,MEDICAL databases ,MEDICAL information storage & retrieval systems ,MEDLINE ,ONLINE information services ,SYSTEMATIC reviews - Abstract
Background and purpose: Leukoerythroblastic reaction (LER) is characterized by the presence of immature erythroid cells and myeloid precursors (metamyelocytes, myelocytes, promyelocytes, myeloblasts, and blasts) as well as, exclusively in myelofibrotic disorders, teardrop cells in the peripheral blood (J Pathol Bacteriol, 42, 1936, 541; Semaine Med, 22, 1902, 373). Research on how to interpret LER and its meaning in clinical practice is scarce, and there is no consensus on the diagnostic criteria. We summarize the current evidence with the aim of clarifying the knowledge on this subject. Methods: We conducted a comprehensive search of the PubMed‐MEDLINE, EMBASE and ELSEVIER databases, the Cochrane Library, Google Scholar, and medical journals to identify relevant papers. Results: Our search identified 425 papers, of which, 35 (11 trials and 24 case reports) ultimately met the inclusion criteria. These showed two principal groups of diseases associated with leukoerythroblastosis (LEB), corresponding to solid and hematological malignancies. The other etiologies, in order of frequency, were hemolytic diseases, infection, and others, while hemorrhage was only reported in the trials group. Conclusion: The literature on LER is scarce and heterogeneous. The etiological factors of LER are diverse, and its presence in malignant disease is an indicator of disease progression and an adverse prognosis suggesting poor survival. In those cases where LER had neither hematological nor solid neoplasms, its manifestation, prognosis and its impact on our daily clinical practice are unknown. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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9. The hematology laboratory's response to the COVID‐19 pandemic: A scoping review.
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Bell, Robert, Zini, Gina, d'Onofrio, Giuseppe, Rogers, Heesun J., Lee, Yi‐Shan, and Frater, John L.
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PATHOLOGICAL laboratories ,ONLINE information services ,COVID-19 ,SARS-CoV-2 ,HEMATOLOGY ,SYSTEMATIC reviews ,DESCRIPTIVE statistics ,LITERATURE reviews ,MEDLINE ,COVID-19 pandemic - Abstract
The ongoing COVID‐19 pandemic has had a profound worldwide impact on the laboratory hematology community. Nevertheless, the pace of COVID‐19 hematology‐related research has continued to accelerate and has established the role of laboratory hematology data for many purposes including disease prognosis and outcome. The purpose of this scoping review was to assess the current state of COVID‐19 laboratory hematology research. A comprehensive search of the literature published between December 1, 2019, and July 3, 2020, was performed, and we analyzed the sources, publication dates, study types, and topics of the retrieved studies. Overall, 402 studies were included in this scoping review. Approximately half of these studies (n = 202, 50.37%) originated in China. Retrospective cohort studies comprised the largest study type (n = 176, 43.89%). Prognosis/ risk factors, epidemiology, and coagulation were the most common topics. The number of studies published per day has increased through the end of May. The studies were heavily biased in favor of papers originating in China and on retrospective clinical studies with limited use of and reporting of laboratory data. Despite the major improvements in our understanding of the role of coagulation, automated hematology, and cell morphology in COVID‐19, there are gaps in the literature, including biosafety and the laboratory role in screening and prevention of COVID‐19. There is a gap in the publication of papers focused on guidelines for the laboratory. Our findings suggest that, despite the large number of publications related to laboratory data and their use in COVID‐19 disease, many areas remain unexplored or under‐reported. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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10. A meta‐analysis of SARS‐CoV‐2 patients identifies the combinatorial significance of D‐dimer, C‐reactive protein, lymphocyte, and neutrophil values as a predictor of disease severity.
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Singh, Kunwar, Mittal, Sasha, Gollapudi, Sumanth, Butzmann, Alexandra, Kumar, Jyoti, and Ohgami, Robert S.
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C-reactive protein ,CLINICAL pathology ,BIOMARKERS ,ONLINE information services ,DISEASE progression ,COVID-19 ,SARS-CoV-2 ,META-analysis ,MULTIPLE regression analysis ,PROGNOSIS ,NEUTROPHILS ,SEVERITY of illness index ,MEDLINE ,LYMPHOCYTE count ,FIBRIN fibrinogen degradation products - Abstract
Background: Severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), known to be the causative agent of COVID‐19, has led to a worldwide pandemic. At presentation, individual clinical laboratory blood values, such as lymphocyte counts or C‐reactive protein (CRP) levels, may be abnormal and associated with disease severity. However, combinatorial interpretation of these laboratory blood values, in the context of COVID‐19, remains a challenge. Methods: To assess the significance of multiple laboratory blood values in patients with SARS‐CoV‐2 and develop a COVID‐19 predictive equation, we conducted a literature search using PubMed to seek articles that included defined laboratory data points along with clinical disease progression. We identified 9846 papers, selecting primary studies with at least 20 patients for univariate analysis to identify clinical variables predicting nonsevere and severe COVID‐19 cases. Multiple regression analysis was performed on a training set of patient studies to generate severity predictor equations, and subsequently tested on a validation cohort of 151 patients who had a median duration of observation of 14 days. Results: Two COVID‐19 predictive equations were generated: one using four variables (CRP, D‐dimer levels, lymphocyte count, and neutrophil count), and another using three variables (CRP, lymphocyte count, and neutrophil count). In adult and pediatric populations, the predictive equations exhibited high specificity, sensitivity, positive predictive values, and negative predictive values. Conclusion: Using the generated equations, the outcomes of COVID‐19 patients can be predicted using commonly obtained clinical laboratory data. These predictive equations may inform future studies evaluating the long‐term follow‐up of COVID‐19 patients. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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11. Guidance for establishing a factor VIII testing protocol for the myriad of factor VIII products.
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Marlar, Richard A., Gausman, Jana N., and Rollins‐Raval, Marian A.
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HEMOPHILIA ,CHROMOGENIC compounds ,MEDICAL protocols ,SEVERITY of illness index ,COMMERCIAL product evaluation ,BLOOD coagulation factors ,ALGORITHMS ,MEDICAL needs assessment ,CHEMICAL inhibitors - Abstract
Introduction: Management of hemophilia A has changed significantly in the past few years with the expansion of new and/or modified products as treatment options. Unfortunately, many of the standard factor VIII assays do not always accurately measure all available treatment products; therefore, the laboratory must investigate various assay algorithms to ensure the reporting of the correct results. Methods: Requirements for factor testing, diagnosis and severity levels, product testing, factor VIII inhibitor detection and titers, are evaluated, and potential algorithms are created for optimal assessment of patients with hemophilia A. Results: The potential for inaccurate result reporting for patients with hemophilia A or those being treated with the myriad of products has left many laboratories uncertain as to which assay algorithm to implement to ensure reporting the correct results for all products used in their hemophilia program. Algorithms for using either One‐stage Clotting assays or Chromogenic assays or a combination of both types of assays are presented for each laboratory to implement based on their clinical situation. Conclusions: Several algorithms are considered based on the needs of the clinical providers and their patients. Each laboratory must select a testing algorithm that is cost‐effective and within available resources, yet that encompasses the needs of their providers and patients. Laboratory personnel must consider all assay uses (factor VIII levels, different products, interfering products, and inhibitor titers) in determining the best algorithm for their laboratory. This paper is a starting guide for developing the best factor VIII testing assays and protocols for your laboratory. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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12. Leukocyte deep learning classification assessment using Shapley additive explanations algorithm.
- Author
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Michalski, Adrian, Duraj, Konrad, and Kupcewicz, Bogumiła
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DEEP learning ,LEUCOCYTES ,LABORATORIES ,COMPARATIVE studies ,CELL nuclei ,ARTIFICIAL neural networks ,BLOOD testing ,ALGORITHMS ,CYTOPLASM - Abstract
Introduction: A peripheral blood smear is a basic test for hematological disease diagnosis. This test is performed manually in many places worldwide, which requires both time and qualified staff. Large laboratories are equipped with digital morphology analyzers, some of which are based on deep learning methods. However, it is difficult to explain to scientists how they work. In this paper, we proposed to add an explanatory factor to enhance the interpretability of deep learning models in leukocyte classification. Methods: 10 297 single images of leukocytes obtained from peripheral blood smears were included in this study. Pre‐trained and fully trained VGG16 and VGG19 models were used to classify the leukocytes, and Shapley Additive Explanations (SHAP) DeepExplainer was applied to visualize the area of cells that were significant for classification. The output images from the DeepExplainer were compared with cellular elements that are essential to laboratory practice. Results: The accuracy of our fully trained models was 99.81% for VGG16 and 99.79% for VGG19. It achieved slightly better results than the partially trained model, which scored 98.67% for VGG16 and 98.33% for VGG19. Their SHAP explanations indicated the significance of cellular structures in microscopic examination. Explanations in the pre‐trained models have proved the cell and nucleus contours to be relevant to classification, while explanations in the fully trained models pointed to the cytoplasm area. Conclusion: Despite different SHAP DeepExplainer explanations for fully and partially trained models, this method appears to be helpful for the verification of leukocyte classification in automated peripheral blood smear examination. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
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13. ICSH guidance for internal quality control policy for blood cell counters.
- Author
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McCafferty, Richard, Cembrowski, George, de la Salle, Barbara, Peng, Mingting, and Urrechaga, Eloisa
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BLOOD cell count equipment , *HEALTH policy , *INFORMATION resources , *HEMATOLOGY , *QUALITY assurance - Abstract
This paper is a description of the ICSH guidance for internal quality control (IQC) policy for blood cell counters. It follows from and links to a separate ICSH review for such policies and practices. The ICSH has gathered information regarding the current state of practice through review of published guidance from regulatory bodies, a questionnaire to six major cell counter manufacturers and a survey issued to 191 diagnostic laboratories in four countries (China, the Republic of Ireland, Spain, and the United Kingdom) on their IQC practice and approach to the use of commercial IQC materials. This has revealed diversity both in guidance and in practice around the world. There is diversity in guidance from regulatory organizations in regard to IQC methods each recommends, clinical levels to use and frequency to run commercial controls, and finally recommended sources of commercial control materials. The diversity in practice among clinical laboratories spans the areas of IQC methods used, derivation of target values, and action limits used with commercial control materials, and frequency of running commercial controls materials. These findings and their implications for IQC Practice are addressed in this guidance document, which proposes a harmonized approach to address the issues faced by diagnostic laboratories. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
14. Pathophysiology and management of bleeding and thrombosis in patients with liver disease.
- Author
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van den Boom, Bente P. and Lisman, Ton
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HEMORRHAGE treatment ,THROMBOSIS diagnosis ,HEMORRHAGE risk factors ,HEMORRHAGE prevention ,THROMBOSIS risk factors ,THROMBOSIS prevention ,HEMORRHAGE diagnosis ,THROMBOSIS ,BLOOD coagulation tests ,BLOOD transfusion ,HEMOSTASIS ,GENETIC disorders ,ANTICOAGULANTS ,LIVER diseases ,FIBRINOLYSIS ,RISK assessment ,BLOOD coagulation disorders ,THROMBOCYTOPENIA ,HEMORRHAGE ,DISEASE complications - Abstract
Patients with liver disease often develop complex changes in their haemostatic system. Frequently observed changes include thrombocytopaenia and altered plasma levels of most of the proteins involved in haemostasis. Although liver disease was historically classified as a haemostasis‐related bleeding disorder, it has now been well established that the antihaemostatic changes that promote bleeding are compensated for by prohaemostatic changes. Conventional coagulation tests however do not accurately reflect these prohaemostatic changes, resulting in an underestimation of haemostatic potential. Novel coagulation tests, such as viscoelastic tests (VETs) and thrombin generation assays (TGAs) better reflect the net result of the haemostatic changes in patients with liver disease, and demonstrate a new, "rebalanced" haemostatic status. Although rebalanced, this haemostatic status is more fragile than in patients without liver disease. Patients with liver disease are therefore not only at risk of bleeding but also at risk of thrombosis. Notably, however, many haemostatic complications in liver disease are not related to the haemostatic failure. It is, therefore, crucial to identify the cause of the bleed or thrombotic complication in order to provide adequate treatment. In this paper, we will elaborate on the haemostatic changes that occur in liver disease, reflect on laboratory and clinical studies over the last few years, and explore the pathophysiologies of bleeding and thrombosis in this specific patient group. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
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15. Role of flow cytometry in evaluation of the cellular therapy products used in haematopoietic stem cell transplantation.
- Author
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Rimac, Vladimira and Bojanić, Ines
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FLOW cytometry ,CELLULAR therapy ,LEUCOCYTES ,CHEMICAL reagents ,MONOCLONAL antibodies ,IMMUNE system ,CELL physiology ,CELL survival ,QUALITY assurance ,HEMATOPOIETIC stem cell transplantation ,FLUORESCENT dyes - Abstract
Cellular therapy nowadays includes various products from haematopoietic stem cells (HSC) collected from bone marrow, peripheral blood, and umbilical cord blood to more complex adoptive immune therapy for the treatment of malignant diseases, and gene therapy for inherited immune deficiencies. Broader utilization of cellular therapy requires extensive quality testing of these products that should fulfil the same requirements regarding composition, purity, and potency nevertheless they are manufactured in various centres. Technical improvements of the flow cytometers accompanied by the increased number of available reagents and fluorochromes used to conjugate monoclonal antibodies, enable detailed and precise insight into the function of the immune system and other areas of cell biology, and allows cell evaluation based on size, shape, and morphology or assessment of cell surface markers, as well as cell purity and viability, which greatly contributes to the development and progress of the cell therapy. The aim of this paper is to give an overview of the current use and challenges of flow cytometry analysis in quality assessment of cellular therapy products, with regard to basic principles of determining HSC and leukocyte subpopulation, assessment of cells viability and quality of thawed cryopreserved HSC as well as the importance of validation and quality control of flow cytometry methods according to good laboratory practice. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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16. Serious consequences of Epstein‐Barr virus infection: Hemophagocytic lymphohistocytosis.
- Author
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Xu, Lingyue, Guo, Xiaofang, and Guan, Hongzai
- Subjects
HIV infections ,CLINICAL pathology ,HEMOPHAGOCYTIC lymphohistiocytosis ,GRAFT versus host disease ,DIFFERENTIAL diagnosis ,GENETIC testing ,MOLECULAR biology ,CYTOGENETICS ,EPSTEIN-Barr virus diseases ,DISEASE complications - Abstract
Human is the host of the Epstein‐Barr virus (EBV) especially in childhood and adolescence. Most of them are asymptomatic infection and self‐limiting. However, for those patients who suffer from immune dysfunction, EBV infection will be life‐threatening. Epstein‐Barr virus‐associated hemophagocytic lymphohistocytosis (EBV‐HLH) is one of the severe effects. The diagnosis and differential diagnosis of EBV‐HLH and other EBV infectious diseases are mentioned in this paper. The molecular biology mechanism and complications of EBV‐HLH are equally briefly presented. It also provides a practical method for the genetic diagnosis of such diseases and the differential diagnosis with other human immunodeficiency diseases for medical scientists in routine clinical practice. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
17. 2021 update of the 2012 ICSH Recommendations for identification, diagnostic value, and quantitation of schistocytes: Impact and revisions.
- Author
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Zini, Gina, d'Onofrio, Giuseppe, Erber, Wendy N., Lee, Szu‐Hee, Nagai, Yutaka, Basak, Grzegorz W., and Lesesve, Jean‐François
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CONSENSUS (Social sciences) ,REFERENCE values ,AUTOANALYZERS ,ERYTHROCYTES ,THROMBOCYTOPENIA ,COLLECTION & preservation of biological specimens - Abstract
In 2012, the International Council for Standardization in Hematology (ICSH) published recommendations for the identification, quantitation, and diagnostic value of schistocytes. In the present review, the impact of these recommendations is evaluated. This work is based on citations in peer‐reviewed papers published since 2012. The first 2012 ICSH Recommendations have also been revised to incorporate newly published data in the literature and current best laboratory practice. Recommended reference ranges have been proposed for healthy adults and full‐term neonates of 1% or less schistocytes. More than 1% of morphologically identified schistocytes on the blood film are considered suspicious for thrombotic microangiopathy. For preterm infants, a normal level of 5% or less is recommended. The fragment red cell count (FRC) generated by some automated hematological analyzers provides a valuable screening tool for the presence of schistocytes. Specifically, the absence of FRCs can be used as a valuable parameter to exclude the presence of schistocytes on the blood film. The validity and usefulness of microscope schistocytes and automated FRCs, respectively, are discussed in the context of the laboratory diagnostic tests used for thrombotic microangiopathies. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
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18. Cytomorphology of normal, reactive, dysmorphic, and dysplastic megakaryocytes in bone marrow aspirates.
- Author
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Zini, Gina and Viscovo, Marcello
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CELL metabolism ,BIOPSY ,BODY fluids ,CELL physiology ,MYELOPROLIFERATIVE neoplasms ,BLOOD diseases ,BONE marrow ,CYTOLOGY - Abstract
This paper aims to emphasize the importance of applying international consensus guidelines to detect qualitative and quantitative abnormalities of megakaryocytes on smears of bone marrow aspirates (BMA) for a shared and harmonized diagnostic path between different laboratories. Careful evaluation of megakaryocytes on BMA smears represents a cornerstone in the diagnosis of most clonal and nonclonal hematological diseases. Images associated with the detailed morphologic description of normal, reactive, abnormal, and dysplastic megakaryocytes are also reported together with examples of similar cells that, if not promptly identified, can lead to a morphological misdiagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
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19. Comprehensive review of the impact of direct oral anticoagulants on thrombophilia diagnostic tests: Practical recommendations for the laboratory.
- Author
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Siriez, Romain, Dogné, Jean‐Michel, Gosselin, Robert, Laloy, Julie, Mullier, François, and Douxfils, Jonathan
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DIAGNOSIS of blood diseases ,ANTICOAGULANTS ,BENZIMIDAZOLES ,BLOOD coagulation factors ,BLOOD proteins ,DIAGNOSTIC errors ,MEDICAL protocols ,ORAL drug administration ,PATHOLOGICAL laboratories ,PROTHROMBIN ,PYRIDINE ,ROUTINE diagnostic tests ,RIVAROXABAN ,CHEMICAL inhibitors - Abstract
There is a laboratory and clinical need to know the impact of direct oral anticoagulants (DOACs) on diagnostic tests to avoid misinterpretation of results. Although the regulatory labelling documents provide some information about the influences of each DOAC on diagnostic tests, these are usually limited to some of the most common tests and no head to head comparison is available. In this paper, we report the impact of DOACs on several thrombophilia tests, including assessment of antithrombin, protein S and protein C activity assays, detection of activated protein C resistance and assays used for lupus anticoagulant. Results are compared and discussed with data obtained from literature. The final goal of this comprehensive review is to provide practical recommendations for laboratories to avoid misdiagnosis due to oral direct factor Xa (FXa) or IIa (FIIa) inhibitors. Overall, oral direct FXa (apixaban, betrixaban, edoxaban and rivaroxaban) and FIIa (dabigatran) antagonists may affect clot‐based thrombophilia diagnostic tests resulting in false‐positive or false‐negative results. An effect on FIIa‐based thrombophilia diagnostic tests is observed with dabigatran but not with anti‐FXa DOACs and conversely for FXa‐based thrombophilia diagnostic tests. No impact was observed with antigenic/chromogenic methods for the assessment of protein S and C activity. In conclusion, interpretation of thrombophilia diagnostic tests results should be done with caution in patients on DOACs. The use of a device/chemical compound able to remove or antagonize the effect of DOACs or the development of new diagnostic tests insensitive to DOACs should be considered to minimize the risk of false results. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
20. Hemolysis interference in 10 coagulation assays on an instrument with viscosity‐based, chromogenic, and turbidimetric clot detection.
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Hedeland, Ylva, Gustafsson, Christina M., Touza, Zinah, and Ridefelt, Peter
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BLOOD coagulation factors ,BLOOD coagulation tests ,BLOOD plasma ,CLINICAL pathology ,DIAGNOSTIC errors ,FIBRIN ,HEMOGLOBINS ,HEMOLYSIS & hemolysins ,DESCRIPTIVE statistics ,PARTIAL thromboplastin time ,PROTHROMBIN time - Abstract
Introduction: Hemolysate in plasma samples from patients may cause misleading results in coagulation assays. Even though modern coagulation instruments often are equipped with modules that can detect hemolysis, icterus, and lipemia (HIL), studies that report the influence of these interferences are still limited. The present paper focuses on the influence of hemolysis on 10 coagulation assays. Methods: Artificial hemolysis was created by freezing/thawing, and the hemolysates generated were added to pools of patient plasma. Pathological and normal levels were pooled separately. These spiked samples were analyzed on a STA R Max 2 instrument. The coagulation assays evaluated utilize clot, chromogenic, or immunoturbidimetric detection. Results: Four of the evaluated assays were not influenced by hemolysis: fibrinogen, von Willebrand factor antigen, activated partial thromboplastin time, and factor VIII. Interestingly, normal and slightly elevated prothrombin time (INR < 2.0) was insensitive to hemolysis, whereas samples with a high INR (≥2.0) exhibited falsely high readings. The assays for antithrombin and fibrin D‐dimer displayed an intermediate sensitivity to hemolysis. The most sensitive assay turned out to be anti‐Xa, followed by protein C and protein S. For the anti‐Xa assay, the results are decreased by 10% already at 0.5 g/L hemoglobin. Conclusion: The present study shows that hemolysis affects several of commonly used coagulation assays. Since the sensitivity for hemolysis is dependent on the brand of the assay as well as the instrument and principle of measurement, it is necessary to evaluate the influence of each specific combination. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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21. The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.
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Fouassier, Marc, Isidor, Bertrand, Cogne, Benjamin, Béné, Marie C., and Eveillard, Marion
- Subjects
HUMAN abnormality genetics ,GENETIC mutation ,MUSCLE proteins ,LEUCOPENIA ,BLOOD platelets ,MICROCEPHALY ,THROMBOCYTOPENIA ,CYTOPLASM ,INTELLECTUAL disabilities - Abstract
The article focuses on the identification of giant platelets with disorganized granules, which can suggest ACTB gene mutation associated with actinomyopathy-associated syndromic thrombocytopenia (ACTBAST). It describes the clinical manifestations and genetic investigations of a case involving thrombocytopenia, large platelets, and platelet morphological abnormalities, it highlights the impact of ACTB gene variants on platelet cytoskeleton and megakaryopoiesis.
- Published
- 2023
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- View/download PDF
22. An analysis of the false negative rate of minimal residual disease measurement by multiparameter flow cytometry in multiple myeloma.
- Author
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Austin, Michael, O'Connor, Simon, Morilla, Ricardo, Pawlyn, Charlotte, Kaiser, Martin F., and Boyd, Kevin D.
- Subjects
CARCINOGENESIS ,BIOPSY ,DIAGNOSTIC errors ,FISHER exact test ,FLOW cytometry ,IMMUNOHISTOCHEMISTRY ,MULTIPLE myeloma ,STATISTICS ,DATA analysis ,DESCRIPTIVE statistics - Abstract
The article presents the study of analysis the false negative rate of minimal residual disease measurement by multipara meter flow cytometry in multiple myeloma. Topics include the minimal residual disease (MRD) monitoring with multiparameter flow cytometry (MFC) has become an increasingly important prognosticparameter in patients treated for multiple myeloma (MM), and the clinical trial design as an endpoint on the basis of its association with progression free and overall survival.
- Published
- 2020
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- View/download PDF
23. Digital assessment of peripheral blood and bone marrow aspirate smears.
- Author
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Lewis JE and Pozdnyakova O
- Subjects
- Humans, Bone Marrow, Hematologic Tests, Bone Marrow Examination, Hematology, Neoplasms
- Abstract
The diagnosis of benign and neoplastic hematologic disorders relies on analysis of peripheral blood and bone marrow aspirate smears. As demonstrated by the widespread laboratory adoption of hematology analyzers for automated assessment of peripheral blood, digital analysis of these samples provides many significant benefits compared to relying solely on manual review. Nonetheless, analogous instruments for digital bone marrow aspirate smear assessment have yet to be clinically implemented. In this review, we first provide a historical overview detailing the implementation of hematology analyzers for digital peripheral blood assessment in the clinical laboratory, including the improvements in accuracy, scope, and throughput of current instruments over prior generations. We also describe recent research in digital peripheral blood assessment, particularly in the development of advanced machine learning models that may soon be incorporated into commercial instruments. Next, we provide an overview of recent research in digital assessment of bone marrow aspirate smears and how these approaches could soon lead to development and clinical adoption of instrumentation for automated bone marrow aspirate smear analysis. Finally, we describe the relative advantages and provide our vision for the future of digital assessment of peripheral blood and bone marrow aspirate smears, including what improvements we can soon expect in the hematology laboratory., (© 2023 John Wiley & Sons Ltd.)
- Published
- 2023
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24. Applied machine learning in hematopathology.
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Dehkharghanian T, Mu Y, Tizhoosh HR, and Campbell CJV
- Subjects
- Humans, Pathologists, Workflow, Machine Learning, Algorithms
- Abstract
An increasing number of machine learning applications are being developed and applied to digital pathology, including hematopathology. The goal of these modern computerized tools is often to support diagnostic workflows by extracting and summarizing information from multiple data sources, including digital images of human tissue. Hematopathology is inherently multimodal and can serve as an ideal case study for machine learning applications. However, hematopathology also poses unique challenges compared to other pathology subspecialities when applying machine learning approaches. By modeling the pathologist workflow and thinking process, machine learning algorithms may be designed to address practical and tangible problems in hematopathology. In this article, we discuss the current trends in machine learning in hematopathology. We review currently available machine learning enabled medical devices supporting hematopathology workflows. We then explore current machine learning research trends of the field with a focus on bone marrow cytology and histopathology, and how adoption of new machine learning tools may be enabled through the transition to digital pathology., (© 2023 The Authors. International Journal of Laboratory Hematology published by John Wiley & Sons Ltd.)
- Published
- 2023
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- View/download PDF
25. Recent developments in the International Journal of Laboratory Hematology.
- Author
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Mackie, Ian J. and d'Onofrio, Giuseppe
- Subjects
PUBLISHING ,MANUSCRIPTS ,SERIAL publications ,ORGANIZATIONAL change ,PERIODICAL articles ,IMPACT factor (Citation analysis) - Abstract
An editorial is presented on the developments in the International Journal of Laboratory Hematology. It outlines the step, strategies taken by the team of the journal for the development. An overview of the achievements received, opportunity to publish more quickly and easily as they do not have to restart the submission from scratch is presented.
- Published
- 2022
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- View/download PDF
26. Systematic application of fluorescence in situ hybridization and immunophenotype profile for the identification of ZNF384 gene rearrangements in B cell acute lymphoblastic leukemia.
- Author
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Janet, Nancy Beryl, Kulkarni, Uday, Arun, Arunachalam Kumar, Bensega, Bexy, Devasia, Anup J., Korula, Anu, Abraham, Aby, George, Biju, Mathews, Vikram, and Balasubramanian, Poonkuzhali
- Subjects
REVERSE transcriptase polymerase chain reaction ,FLOW cytometry ,B cells ,SEQUENCE analysis ,GENETIC mutation ,LYMPHOBLASTIC leukemia ,GENETIC testing ,GENE rearrangement ,FLUORESCENCE in situ hybridization ,IMMUNOPHENOTYPING ,GENES ,POLYMERASE chain reaction ,CYTOGENETICS - Abstract
Introduction: ZNF384 gene fusions resulting from translocations with several partner genes have been described in B cell acute lymphoblastic leukemia (B‐ALL) with a characteristic immunophenotype (aberrant CD13 and or CD33 with dim CD10). The prognosis of patients with this rearrangement appears to depend on the fusion partner. ZNF384 rearrangements have been identified by high through put technologies such as RNA sequencing in most of the studies published. We tested the feasibility of using the characteristic immunophenotype as a tool to screen for patients with ZNF384 translocations which can be subsequently confirmed by cytogenetic / molecular methodologies. Methods: ZNF384 rearrangements in B‐ALL patients at diagnosis with CD10 <80% and were negative for the BCR‐ABL1 fusion (n = 109) were identified by fluorescence in situ hybridization followed by confirmation by reverse transcriptase‐polymerase chain reaction and Sanger sequencing. The end of induction measurable residual disease evaluated by flow cytometry for these patients was obtained from patient records. Results: ZNF384 translocations were identified in 14 patients and were cytogenetically cryptic in 13. EP300‐ZNF384 was the most common fusion partner (n = 12), while TAF15‐ZNF384 and TCF3‐ZNF384 were identified in 1 patient each. End of induction MRD by flow cytometry was positive in 5 of 8 patients with the EP300‐ZNF384 fusion treated at our center. Conclusion: Our findings show a practical approach for the identification of ZNF384 gene rearrangements by widely available technologies and indicate that the response to therapy may be heterogeneous even in this subset, which has been reported as having a favorable prognosis. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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- View/download PDF
27. Standardization of haematology critical results management in adults: an International Council for Standardization in Haematology, ICSH, survey and recommendations.
- Author
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Keng, T. B., De La Salle, B., Bourner, G., Merino, A., Han, J‐Y., Kawai, Y., Peng, M. T., and McCafferty, R.
- Subjects
HEMATOLOGY ,DOCUMENTATION standards ,AUDITING ,BLOOD testing ,COMMUNICATION ,CONSENSUS (Social sciences) ,QUESTIONNAIRES ,REFERENCE values ,RESEARCH funding ,SURVEYS ,PHYSICIAN practice patterns ,DATA analysis software ,DESCRIPTIVE statistics ,MEDICAL societies - Abstract
Introduction These recommendations are intended to develop a consensus in the previously published papers as to which parameters and what values should be considered critical. A practical guide on the standardization of critical results management in haematology laboratories would be beneficial as part of good laboratory and clinical practice and for use by laboratory-accrediting agencies. Methods A working group with members from Europe, America, Australasia and Asia was formed by International Council for Standardization in Haematology. A pattern of practice survey of 21 questions was distributed in 2014, and the data were collected electronically by Survey Monkey. The mode, or most commonly occurring value, was selected as the threshold for the upper and lower alert limits for critical results reporting. Results A total of 666 laboratories submitted data to this study and, of these, 499 submitted complete responses. Full blood count critical results alert thresholds, morphology findings that trigger critical result notification, critical results alert list, notification process and maintenance of critical results management protocol are described. This international survey provided a snapshot of the current practice worldwide and has identified the existence of considerable heterogeneity of critical results management. Conclusion The recommendations in this study represent a consensus of good laboratory practice. They are intended to encourage the implementation of a standardized critical results management protocol in the laboratory. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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- View/download PDF
28. Verification and quality control of routine hematology analyzers.
- Author
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Vis, J. Y. and Huisman, A.
- Subjects
BLOOD testing ,CONFERENCES & conventions ,PATHOLOGICAL laboratories ,QUALITY control ,AUTOANALYZERS ,EQUIPMENT & supplies - Abstract
Verification of hematology analyzers (automated blood cell counters) is mandatory before new hematology analyzers may be used in routine clinical care. The verification process consists of several items which comprise among others: precision, accuracy, comparability, carryover, background and linearity throughout the expected range of results. Yet, which standard should be met or which verification limit be used is at the discretion of the laboratory specialist. This paper offers practical guidance on verification and quality control of automated hematology analyzers and provides an expert opinion on the performance standard that should be met by the contemporary generation of hematology analyzers. Therefore (i) the state-of-the-art performance of hematology analyzers for complete blood count parameters is summarized, (ii) considerations, challenges, and pitfalls concerning the development of a verification plan are discussed, (iii) guidance is given regarding the establishment of reference intervals, and (iv) different methods on quality control of hematology analyzers are reviewed. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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- View/download PDF
29. Improvement of mortality prediction accuracy in critically ill patients through combination of SOFA and APACHE II score with markers of stress haematopoiesis.
- Author
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Macichová, Michaela, Grochová, Monika, Rácz, Oliver, Firment, Jozef, Mitníková, Miriam, Rosenberger, Jaroslav, Šimonová, Jana, and Hudák, Vladimir
- Subjects
MORTALITY risk factors ,ACADEMIC medical centers ,ERYTHROCYTES ,AGE distribution ,APACHE (Disease classification system) ,BIOMARKERS ,CRITICALLY ill ,GRANULOCYTES ,HEMATOPOIESIS ,PATIENTS ,QUALITY assurance ,REGRESSION analysis ,RISK assessment ,PSYCHOLOGICAL stress ,RETROSPECTIVE studies ,SEVERITY of illness index ,DESCRIPTIVE statistics ,EVALUATION - Abstract
Introduction: In critically ill patients nucleated red blood cells (NRBC) and immature granulocytes (IG) appear in the peripheral blood as the consequence of stress haematopoesis. The aim of this retrospective study was to evaluate the diagnostic value of NRBC and IG and to propose a model of improved mortality prediction including these parameters in the assessment of critically ill patients. Methods: The study included 338 critically ill adult patients hospitalized at Department of Anaesthesiology and Intensive Medicine, Louis Pasteur University Hospital in Kosice. As NRBC positive patients were considered patients with peripheral NRBC > 0.01 × 109/L and IG positivity as >0.03 × 109/L. Apache II index was calculated 24 hours after admission and Systemic Organ Failure Assessment (SOFA) on the day with the worst clinical condition. Results: NRBC positivity was found in 27.6% of patients. The mortality of NRBC positive patients was 48.38%, significantly higher than 23.7% of NRBC negative patients. IG positivity was 79.0% and their mortality was also higher as compared with that of IG negative patients (69.3% vs 33.8%). Three regression models predicting mortality including stress haematopoiesis markers, APACHE II, SOFA scores and age had sufficient level of sensitivity and specificity. Conclusion: The presence of NRBC in the peripheral blood and the IG increase are available early risk predictors of mortality in critically ill patients. Regression models designed by combination of SOFA, APACHE II, and the new haematological parameters increase the accuracy and effectivity of diagnostic process in predicting prognosis and risk of mortality with high sensitivity and specificity. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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- View/download PDF
30. ICSH recommendations for assessing automated high-performance liquid chromatography and capillary electrophoresis equipment for the quantitation of HbA2.
- Author
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Stephens, A. D., Colah, R., Fucharoen, S., Hoyer, J., Keren, D., McFarlane, A., Perrett, D., and Wild, B. J.
- Subjects
HEMATOLOGY ,BETA-Thalassemia ,AUTOMATION ,CAPILLARY electrophoresis ,HEMOGLOBINS ,HIGH performance liquid chromatography ,LABORATORIES ,QUALITY control ,DIAGNOSIS ,MEDICAL societies - Abstract
Automated high performance liquid chromatography and Capillary electrophoresis are used to quantitate the proportion of Hemoglobin A
2 (HbA2 ) in blood samples order to enable screening and diagnosis of carriers of β-thalassemia. Since there is only a very small difference in HbA2 levels between people who are carriers and people who are not carriers such analyses need to be both precise and accurate. This paper examines the different parameters of such equipment and discusses how they should be assessed. [ABSTRACT FROM AUTHOR]- Published
- 2015
- Full Text
- View/download PDF
31. The evolution of guidelines for the validation of flow cytometric methods.
- Author
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Du, L., Grover, A., Ramanan, S., and Litwin, V.
- Subjects
FLOW cytometry ,PROFESSIONAL associations ,RESEARCH evaluation ,MEDICAL equipment reliability ,STANDARDS - Abstract
The recent advances in the field of flow cytometry have resulted in instrumentation with increased capacity which is actually more user-friendly. Thus, the technology has become more valuable to research scientists, the pharmaceutical industry and clinical laboratories. The use of flow cytometry in regulated labs has been hampered by the challenges associated method validation and the lack of official guidance documents on the topic. Thus key stakeholders have published recommendation papers with the hope that these will be incorporated as official guidance documents. This review will focus on the achievements of the stakeholders and a high-level overview their recommendations. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
32. Assembly and evaluation of an inventory of guidelines that are available to support clinical hematology laboratory practice.
- Author
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Hayward, C. P. M., Moffat, K. A., George, T. I., and Proytcheva, M.
- Subjects
CLINICAL pathology ,RESEARCH methodology ,MEDICAL technology ,REFERENCE sources ,PROFESSIONAL practice - Abstract
Introduction Practice guidelines provide helpful support for clinical laboratories. Our goal was to assemble an inventory of publically listed guidelines on hematology laboratory topics, to create a resource for laboratories and for assessing gaps in practice-focused guidelines. Methods PubMed and website searches were conducted to assemble an inventory of hematology laboratory-focused guidelines. Exclusions included annual, technical, or collaborative study reports, clinically focused guidelines, position papers, nomenclature, and calibration documents. Results Sixty-eight guidelines were identified on hematology laboratory practice topics from 12 organizations, some as joint guidelines. The median year of publication was 2010 and 15% were >10 years old. Coagulation topics had the largest numbers of guidelines, whereas some areas of practice had few guidelines. A minority of guidelines showed evidence of periodic updates, as some organizations did not remove or identify outdated guidelines. Conclusions This inventory of current practice guidelines will encourage awareness and uptake of guideline recommendations by the worldwide hematology laboratory community, with the International Society for Laboratory Hematology facilitating ongoing updates. There is a need to encourage best guideline development practices, to ensure that hematology laboratory community has current, high-quality, and evidence-based practice guidelines that cover the full scope of hematology laboratory practice. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
33. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.
- Author
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Russo R, Iolascon A, Andolfo I, Marra R, and Rosato BE
- Subjects
- Humans, Genetic Association Studies, Mutation, Erythropoiesis genetics, High-Throughput Nucleotide Sequencing, Anemia, Dyserythropoietic, Congenital genetics, Anemia, Dyserythropoietic, Congenital diagnosis, Anemia, Dyserythropoietic, Congenital therapy
- Abstract
Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development, resulting in ineffective erythropoiesis and monolinear cytopenia. CDAs include three main types (I, II, III), transcription-factor-related forms, and syndromic forms. The widespread use of next-generation sequencing in the last decade has unveiled novel causative genes and unexpected genotype-phenotype correlations. The discovery of the genetic defects underlying the CDAs not only facilitates accurate diagnosis but also enhances understanding of CDA pathophysiology. Notable advancements include identifying a hepatic-specific role of the SEC23B loss-of-function in iron metabolism dysregulation in CDA II, deepening CDIN1 dysfunction during erythroid differentiation, and uncovering a recessive CDA III form associated with RACGAP1 variants. Current treatments primarily rely on supportive measures tailored to disease severity and clinical features. Comparative studies with pyruvate kinase deficiency have illuminated new therapeutic avenues by elucidating iron dyshomeostasis and dyserythropoiesis mechanisms. We herein discuss recent progress in diagnostic methodologies, novel gene discoveries, and enhanced comprehension of CDA pathogenesis and molecular genetics., (© 2024 John Wiley & Sons Ltd.)
- Published
- 2024
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34. Simultaneous assay of activated platelet count and platelet-activating capacity by P-selectin detection using K2-EDTA- treated whole blood for antiplatelet agents.
- Author
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Okano, K., Araki, M., Mimura, Y., Nogaki, H., and Ichihara, K.
- Subjects
DRUG monitoring ,THROMBOEMBOLISM ,ANALYSIS of variance ,BLOOD testing ,BLOOD platelet activation ,CELL adhesion molecules ,COMPARATIVE studies ,FLOW cytometry ,LIGHT ,MICROSCOPY ,T-test (Statistics) ,DIAGNOSIS - Abstract
Introduction It is well recognized Lhat examinations of activated platelets (aPLTs) and platelet-activating capacity are very important to observe and prevent embolic diseases (events) such as ischemic stroke and myocardial infarction. Previously, we reported an appropriate measurement technique of aPLT for clinical assay. In this paper, we investigated stable conditions for measurement of activating capacity of platelets. Methods Blood samples were taken from healthy volunteers using anticoagulants of 2K-EDTA, sodium citrate and heparin, and platelets were stimulated with adenosine diphosphate (ADP) or collagen. We demonstrated platelet-activating capacity by detection of scattering light, absorbance, microscopic observation, and P-selectin (CD62P) expression. We also performed basic experiments in seven healthy volunteers to test the clinical application of these assays with monitoring aspirin therapy. Results We judged that samples of whole blood with 2K-EDTA were suitable for CD62P expression assay as functional assessments of platelet activity, because platelets treated with anticoagulants such as sodium citrate and heparin were extremely damaged after stimulation, and it was difficult to measure the CD62P expression by flow cytometry. For optimal results, samples should be tested within 1 h after the drawing of blood and stimulated with ADP or collagen for 10 min. The CD62P-positive platelet value of blood from volunteers who had taken aspirin was decreased, and platelet activation was inhibited as well. Conclusion The simultaneous assay of aPLT and platelet-activating capacity by CD62P detection using whole blood treated with the K2-EDTA anticoagulant was useful for the monitoring of antiplatelet drugs. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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- View/download PDF
35. The phenotypic and genetic assessment of protein C deficiency.
- Author
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COOPER, P. C., HILL, M., and MACLEAN, R. M.
- Subjects
BLOOD coagulation disorders ,GENETIC disorder diagnosis ,PROTEIN analysis ,CLINICAL pathology ,BLOOD coagulation tests ,CHROMOGENIC compounds ,GENES ,GENETIC techniques ,PHENOTYPES ,DIAGNOSIS - Abstract
This paper outlines the methods and approaches used for the laboratory detection and investigation of protein C (PC) deficiency. It does not make recommendations as to which patients should have thrombophilia testing performed; this should be done in line with local guidance. Interpretation of PC level is complicated because level varies with age, and many conditions can cause acquired deficiency. Protein C is most usually measured by chromogenic assay as a part of the thrombophilia screen. There exists, however, a very small group of individuals with significant PC deficiency, in whom the chromogenic PC assay is normal. The coagulometric assay of PC is more sensitive to these rare defects, but these assays may lack specificity. Genetic analysis allows definitive diagnosis and may be useful in confirming that deficiency is inherited and not acquired and is particularly valuable in families with severe PC deficiency. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
36. State of the art in natural killer cell malignancies.
- Author
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SEMENZATO, G., MARINO, F., and ZAMBELLO, R.
- Subjects
KILLER cells ,LEUKEMIA ,LYMPHOMAS ,LYMPHOPROLIFERATIVE disorders - Abstract
Summary The recently updated World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, published in 2008, has made great advances in revising the disorders previously included in the pool of natural killer (NK) cell tumors. Although NK cell neoplasms represent a relatively rare group of diseases, accounting for <5% of all lymphoid neoplasms, they include very distinctive conditions both clinically and pathologically. This family of diseases includes the most indolent clinical forms, such as the provisional new entry of chronic lymphoproliferative disorder of NK cells (CLPD-NK) in the WHO classification, as well as one of the most fatal diseases recognized in medical oncology, aggressive NK cell leukemia (ANKL), which is characterized by a prognosis of weeks, or even days. In addition, some disorders previously identified as blastic NK cell lymphoma within the NK cell system have been more properly defined and included in the blastic plasmacytoid dentritic cell neoplasms, although rare cases of bona fide immature NK lymphoid tumors (now classified as NK cell lymphoblastic leukemia/lymphoma) have been reported in the literature. This paper focuses on recent concepts and progress in morphology, pathogenesis, clinicopathological features, treatment approaches, and outcomes of NK cell malignancies. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
37. A pilot study to introduce a local external quality assurance scheme for D‐dimers in the National Health Laboratory Service, in South Africa.
- Author
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Aggett, Hazel, Dabula, Patience, Mayne, Elizabeth S., and Louw, Susan
- Subjects
BIOLOGICAL assay ,CLINICAL pathology ,HOSPITAL laboratories ,QUALITY assurance ,QUALITY control ,QUESTIONNAIRES ,REFERENCE values ,PILOT projects ,FIBRIN fibrinogen degradation products - Abstract
Introduction: Laboratory quality assurance (QA) includes internal quality control (IQC), external quality assurance (EQA) and quality improvement (QI). EQA identifies quality deviations and training needs. D‐dimers are breakdown products of thrombus and results guide various clinical decisions. Methods: The National Health Laboratory Service (NHLS) in South Africa performs the pathology tests for more than 80% of the population. The NHLS Quality Assurance Department distributed 301 questionnaires to laboratories enquiring about D‐dimer testing. Two levels of STAGO® and Siemens® commercial D‐dimer assay control material were distributed for analysis and returned results analysed. Results: A total of 64 (21.2%) completed questionnaires were returned and 26 (40.6%) laboratories were performing D‐dimers with 25 (97%) subscribing to an EQA scheme. All laboratories reported results in D‐dimer units with a negative result cut‐off of ≤0.25 mg/L but various testing platforms were in use. All returned interpretations of analyses on the blinded control material were correct. The results were also within the respective reference ranges of the controls apart from three outliers. One laboratory obtained a result on STAGO® pathological control that was above the cut‐off of the control reference range but the reason for this error could not be identified. Another obtained results on the STAGO® and on the Siemens® normal controls that were both below the cut‐off of the control reference range due to transcription errors. Conclusion: The study demonstrated the feasibility of a local EQA scheme for D‐dimers based on commercial control material that could mitigate against the cost of international EQA scheme participation. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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- View/download PDF
38. Kinetics of pDCs, mDCs, γδT cells and regulatory T cells in association with graft versus host disease after hematopoietic stem cell transplantation.
- Author
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WATANABE, N., NARITA, M., FURUKAWA, T., NAKAMURA, T., YAMAHIRA, A., MASUKO, M., TOBA, K., FUSE, I., AIZAWA, Y., and TAKAHASHI, M.
- Subjects
ANTIGEN presenting cells ,DYNAMICS ,FLOW cytometry ,GRAFT versus host reaction ,HEMATOPOIETIC stem cell transplantation ,PROBABILITY theory ,U-statistics - Abstract
Although the roles of each low-frequency immunocompetent cells such as dendritic cells (DCs), γδT cells, and Treg cells in induction of acute or chronic graft versus host disease (GVHD) have been discussed in several reports, there are few papers dealing with an evaluation of these immunocompetent cells together and simultaneously in patients with hematopoietic stem cell transplantation (HSCT) and explored the kinetics of these cells in association with GVHD. In the present study, we assessed the number of plasmacytoid DCs (pDCs), myeloid DCs (mDCs), γδT cells and Treg cells serially in patients who received allogeneic HSCT and analyzed the relationship of these cells with acute or chronic GVHD (cGVHD) by using flow cytometry. The percentages and numbers of pDCs, mDC1s and γδT cells were significantly lowered in the patients with acute GVHD (aGVHD) compared with those with no GVHD. On the contrary, the percentages and numbers of Treg cells were significantly elevated in the patients with aGVHD compared with those with no GVHD. As to the association with cGVHD, Treg cells were elevated in the patients with cGVHD, compared with those with no GVHD. The present study revealed an association of pDCs, mDCs, γδT cells and Treg cells with induction or treatment of GVHD. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF
39. Increasing hematopoietic microchimerism is a reliable indicator of incipient AML relapse.
- Author
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HORKY, O., MAYER, J., KABLASKOVA, L., RAZGA, F., KREJCI, M., KISSOVA, J., BORSKY, M., JEZISKOVA, I., and DVORAKOVA, D.
- Subjects
CANCER relapse ,CELLS ,CHI-squared test ,COMPARATIVE studies ,GENETICS ,HEMATOPOIESIS ,HEMATOPOIETIC stem cell transplantation ,HOMOGRAFTS ,POLYMERASE chain reaction ,RESEARCH funding ,STATISTICS ,U-statistics ,DATA analysis ,ACUTE myeloid leukemia ,REVERSE transcriptase polymerase chain reaction - Abstract
The reoccurrence or increase in autologous hematopoiesis after allogeneic transplantation has been linked to incipient leukemia relapse. However, the importance of such an emergency regarding microchimerism (i.e. mixed chimerism below 1% of autologous cells) still remains controversial, as fluctuating microchimerism can be observed for a very long time after transplantation. Using real-time PCR (RQ-PCR), we compare peripheral blood samples obtained from patients with acute myeloid leukemia (AML) before hematological relapse and those taken during complete remission (i.e. either complete cytogenetic remission or complete molecular remission where applicable). By comparison of these two groups, we describe microchimerism dynamics clearly connected with imminent AML relapse. Additionally, we compare applicability of RQ-PCR and conventional PCR with fragment analysis. Mere reappearance of autologous hematopoiesis within patients with complete donor chimerism is alarming, and another sample with further increase confirms ongoing relapse. In case of patients with continuous microchimerism, another two consecutive samples with increasing trend are required. RQ-PCR predicted a significantly higher number of hematological relapses (87% vs. 39%) with a median anticipation period of 33 days, 26 days earlier than conventional PCR ( P = 0.0002). Moreover, the outcome of microchimerism dynamics was in complete agreement with monitoring of minimal residual disease when analyzed from the same cell compartment. Within this paper, we emphasize the importance of microchimerism monitoring as a reliable indicator of incipient AML relapse, especially in patients where no other specific molecular marker is available. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF
40. An electronic thesaurus of Evidence Based Laboratory Medicine hematological and biochemical diagnostic tests.
- Author
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DORIZZI, R. M., MACONI, M., GIAVARINA, D., LOZA, G., AMAN, M., MOREIRA, J., BISOFFI, Z., and GENNUSO, C.
- Subjects
EVIDENCE-based medicine ,HEMATOLOGY ,CLINICAL pathology ,MEDICAL radiology ,CARDIOLOGY ,INTERNAL medicine - Abstract
The adoption of Evidence Based Laboratory Medicine (EBLM) has been hampered until today by the lack of effective tools. The SIMeL EBLM e-Thesaurus (on-line Repertoire of the diagnostic effectiveness of the laboratory, radiology and cardiology test) provides a useful support to clinical laboratory professionals and to clinicians for the interpretation of the diagnostic tests. The e-Thesaurus is an application developed using Microsoft
® Active Server Pages technology and carried out with Web Server Microsoft® Internet Information Server and is available at the SIMeL website using a browser running JavaScript® scripts (Internet Explorer® is recommended). It contains a database (in Italian, English and Spanish) of the sensitivity and specificity (including the 95% confidence interval), the positive and negative likelihood ratios, the Diagnostic Odds Ratio and the Number Needed to Diagnose of more than 2000 diagnostic (most laboratory but also cardiology and radiology) tests. The e-Thesaurus improves the previous SIMeL paper and CD Thesaurus; its main features are a three languages search and a continuous and an easy updating capability. [ABSTRACT FROM AUTHOR]- Published
- 2009
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41. EQAS for peripheral blood morphology in Spain: a 6-year experience.
- Author
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GUTIÉRREZ, G., MERINO, A., DOMINGO, A., JOU, J. M., and REVERTER, J. C.
- Subjects
HEMATOLOGY ,INTERNAL medicine ,LABORATORIES ,MORPHOLOGY ,LEUCOCYTES ,HOSPITAL patients - Abstract
The Spanish haematology external quality assessment scheme (EQAS), established in 1984, is run by the Spanish Haematology and Haemotherapy Association (AEHH) [ Quality Assurance in Health Care 3 (1991) 75] and functions to evaluate the quality and reproducibility of the assessment of diagnostic samples by clinical laboratories. The Hospital Clinic of the University of Barcelona (HCB) serves as the EQAS Coordination Centre and follows the guidelines established by the International Committee for Standardization in Haematology [ Annali dell'Istituto superiore di Sanità 31 (1995) 95; International Journal of Hematology 68 (1998) 45]. During the period 2001–2006, replicates of 25 different blood films were sent to 604 EQAS participants for cell morphology evaluation. Some patient details corresponding to the samples were disclosed, such us age, sex, haemoglobin value and white blood cell count. The participants were asked to select up to four significant morphology features using a coding list, provided by the Coordination Centre, which included significant morphological alterations that appear in haematopoietic cells. For each survey, individual results were assessed against the morphological reference results (MRR) established by the Cytology Group of the AEHH (‘true’ answers). This paper describes the organization of the 6-year-long study and the evaluation of laboratory performance for blood smear interpretation by the Spanish haematology EQAS. Different performance levels were detected relative to the laboratory category. Laboratories providing services to hospitalized patients showed higher performances compared with laboratories providing services to nonhospitalized patients. Pathological lymphoid cells were the most difficult to identify by the participants. To improve the results in EQAS peripheral blood morphology, the development of specific cytology educational trainings is discussed. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
42. Case report of HbC/ β0-thalassemia from India.
- Author
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KUMAR, S., RANA, M., HANDOO, A., SAXENA, R., VERMA, I. C., BHARGAVA, M., and SOOD, S. K.
- Subjects
ELECTROPHORESIS ,BLOOD testing ,HIGH performance liquid chromatography ,MEDICAL research - Abstract
This 22-year-old women presented to the ante-natal clinic of this hospital for prenatal screening for β-thalassemia. Cation exchange high performance liquid chromatography (HPLC) using ‘Beta Thalassemia Short Program’ on Bio-Rad ‘Variant’ system revealed HbC value of 81.6%. The CBC showed microcytic hypochromic anemia. The HPLC and CBC suggested the possibility of compound heterozygote state for HbC/ β-thalassemia. The alkali and acid electrophoresis findings were consistent with the above diagnosis. The DNA analysis confirmed compound heterozygote state for HbC/ β
0 -thalassemia (Fr 8/9 mutation). The studies on the parents showed that mother was a compound heterozygote for HbDPunjab and HbC while father had β-thalassemia trait. To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbDPunjab and HbC). [ABSTRACT FROM AUTHOR]- Published
- 2007
- Full Text
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43. Polarization and apoptosis of T cell subsets in idiopathic thrombocytopenic purpura.
- Author
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CHANG-LIN, W. U., JIAN-CHENG, X. U. E., FANG, L. I. U., HONG, X. I. A. O., XUE-MIN, Z. H. U. O., QUN, C. H. E. N., and XUE-WEN, L. V.
- Subjects
APOPTOSIS ,T cells ,THROMBOCYTOPENIA ,THROMBOPENIC purpura ,HEMORRHAGIC diseases ,AUTOIMMUNE diseases - Abstract
It is well known that idiopathic thrombocytopenic purpura (ITP) is an acquired organ-specific autoimmune hemorrhagic disease and dysfunctional cellular immunity is considered important in the pathophysiology of ITP, however, polarization and apoptosis profiles of T lymphocytes remain unclear completely. In this paper, we investigated the polarization of T cell subsets, the expressions of apoptotic proteins Fas/FasL on T cell subsets and the level of antiapoptotic gene bcl-2 and bax mRNA in the bcl-2 family, then discussed the role of them in ITP pathogenesis. We demonstrated that the ratios of Th1/Th2 and Tc1/Tc2 in ITP children increased obviously, the average percentages of Th1 and Th2 also increased clearly, but the average percentages of Tc1 and Tc2 did not changed. In ITP children, the expressions of Fas, FasL on Th, Th1, Th2, Tc, Tc1 and Tc2 increased significantly. The expressions of FasL on Th1 and Tc1 increased sharply vs. Fas, whereas the expressions of Fas on Th2 and Tc2 increased obviously vs. FasL. The expressions of bcl-2 mRNA in ITP children increased significantly, but the expressions of bax mRNA decreased, the ratios of bcl-2/bax mRNA were improved obviously and there were positive correlation between the ratios of Th1/Th2 (IFN- γ
+ T/IL-4+ T) and the ratios of bcl-2/bax mRNA. Taken together, our findings indicate that ITP is Th1 type cell predominant disease although the precise mechanisms await further functional assay. This abnormal polarization of T cell subsets might be related to the high ratios of bcl-2/bax mRNA and the abnormal expressions of Fas, FasL on T cell subsets, as can involve in ITP immunopathogenesis. [ABSTRACT FROM AUTHOR]- Published
- 2007
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44. Comments re article on comparison of performance and abnormal cell flagging of two automated hematology analyzers: Sysmex XN 3000 and Beckman Coulter DxH 800.
- Author
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Sukhacheva, Elena
- Subjects
AUTOMATION ,BLOOD testing ,COMMERCIAL product evaluation ,LABORATORIES ,RESEARCH methodology ,AUTOANALYZERS - Published
- 2020
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45. Abstracts.
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PATHOLOGICAL laboratories ,CLINICAL pathology ,AUTOANALYZERS ,LYMPHOBLASTIC leukemia ,LIQUID chromatography ,DIGITAL technology ,MICROSCOPY ,HEMATOLOGY ,MYELOID leukemia ,GENETIC disorders ,ARTIFICIAL intelligence ,LABORATORIES ,CONFERENCES & conventions ,BLOOD coagulation disorders ,ANEMIA ,AUTOMATION ,CASE studies ,BLOOD testing ,TUMORS ,MEDICAL research ,DIFFUSION of innovations ,DIGITAL diagnostic imaging ,BLOODBORNE infections - Published
- 2023
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46. International Council for Standardization in Haematology recommendations for laboratory measurement of factor VIII and FIX type I inhibitors.
- Author
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Meijer, Piet, Peyvandi, Flora, Young, Guy, Pruthi, Rajiv, de Lima Montalvão, Silmara, and Kitchen, Steve
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PATHOLOGICAL laboratories ,CLINICAL pathology ,HEMATOLOGY ,HEMATOLOGIC agents ,QUALITY assurance ,BLOOD coagulation factors ,HEMOSTATICS - Abstract
This guidance document has been prepared on behalf of the International Council for Standardisation in Hematology. The aim of the document is to provide guidance and recommendations on the measurement of factor VIII (FVIII) and factor IX (FIX) inhibitors. After an introduction on the clinical background and relevance of factor VIII and factor IX inhibitor testing, the following aspects of laboratory testing are included: screening for inhibitors, assay principle, sample requirements, testing requirements and interpretation, quality assurance, interferences and recent developments. This guidance document focusses on recommendations for a standardised procedure for the laboratory measurement of FVIII and FIX type I inhibitors. The recommendations are based on published data in peer‐reviewed literature and expert opinion. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
47. TCF3 gene rearrangements in pediatric B‐cell acute lymphoblastic leukemia—A single center experience.
- Author
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Zerkalenkova, Elena, Menchits, Yaroslav, Borkovskaia, Alexandra, Sokolova, Sophia, Soldatkina, Olga, Mikhailova, Ekaterina, Popov, Alexander, Komkov, Alexander, Rumiantseva, Yulia, Karachunskii, Alexander, and Olshanskaya, Yulia
- Subjects
REVERSE transcriptase polymerase chain reaction ,HIGH throughput screening (Drug development) ,LYMPHOBLASTIC leukemia ,B cell lymphoma ,KARYOTYPES ,GENETIC testing ,TUMORS in children ,GENE rearrangement ,CHROMOSOME abnormalities ,TRANSCRIPTION factors ,CHILDREN - Abstract
Introduction: B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) is the most common neoplasm in children. One of the long known recurrent rearrangements in BCP‐ALL is t(1;19)(q23;p13.3)/TCF3::PBX1. However, other TCF3 gene rearrangements were also described that are associated with significant difference in ALL prognosis. Methods: The current study aimed to analyze the spectrum of TCF3 gene rearrangements in children in Russian Federation. A cohort of 203 patients with BCP‐ALL was selected based on FISH screening and was studied by karyotyping, FISH, RT‐PCR and high throughput sequencing. Results: T(1;19)(q23;p13.3)/TCF3::PBX1 is the most common aberration in TCF3‐positive pediatric BCP‐ALL (87.7%), with its unbalanced form prevailing. It resulted from TCF3::PBX1 exon 16‐exon 3 fusion junction (86.2%) or unconventional exon 16‐exon 4 junction (1.5%). Rarer events included t(12;19)(p13;p13.3)/TCF3::ZNF384 (6.4%) and t(17;19)(q21‐q22;p13.3)/TCF3::HLF (1.5%). The latter translocations demonstrated high molecular heterogeneity and complex structure—four distinct transcripts were shown for TCF3::ZNF384 and each patient with TCF3::HLF had a unique transcript. These features hamper TCF3 rearrangement primary detection by molecular methods and brings FISH screening to the fore. A case of novel TCF3::TLX1 fusion in a patient with t(10;19)(q24;p13) was also discovered. Survival analysis within the national pediatric ALL treatment protocol demonstrated the severe prognosis of TCF3::HLF compared to both TCF3::PBX1 and TCF3::ZNF384. Conclusion: So, high molecular heterogeneity of TCF3 gene rearrangement in pediatric BCP‐ALL was demonstrated and a novel fusion gene TCF3::TLX1 was described. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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48. Comprehensive pediatric reference intervals for 79 hematology markers in the CALIPER cohort of healthy children and adolescents using the Mindray BC‐6800Plus system.
- Author
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Bohn, Mary Kathryn, Wilson, Siobhan, Steele, Shannon, and Adeli, Khosrow
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REFERENCE values ,BIOMARKERS ,PATHOLOGICAL laboratories ,RETICULOCYTES ,HEMATOLOGY ,LEUCOCYTES ,BLOOD platelets ,PEDIATRICS ,PUBERTY ,RESEARCH funding ,BLOOD testing ,DECISION making in clinical medicine ,ERYTHROCYTES ,LONGITUDINAL method - Abstract
Background: Hematological parameters vary significantly throughout growth and development due to physiological processes such as fetal‐to‐adult erythropoiesis and puberty. Pediatric age‐ and sex‐specific reference intervals (RIs) are thus essential for appropriate clinical decision‐making. The current study aimed to establish RIs for both common and novel hematology parameters on the Mindray BC‐6800Plus system. Methods: Six hundred and eighty‐seven healthy children and adolescents (30 days to 18 years) were enrolled. Participants were recruited as part of the Canadian Laboratory Initiative on Pediatric Reference Intervals Program upon informed consent or identified from apparently healthy outpatient clinics. Whole blood was collected and assayed for 79 hematology parameters on the BC‐6800Plus system (Mindray). Age‐ and sex‐specific RIs were established as per Clinical and Laboratory Standards Institute EP28‐A3c guidelines. Results: Dynamic reference value distributions were observed for several hematology parameters, including erythrocytes, leukocytes, platelets, reticulocytes, and research‐use‐only markers. Age partitioning was required for 52 parameters, demonstrating changes in infancy and puberty. Sex partitioning was required for 11 erythrocyte parameters (i.e., red blood cell (RBC), hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin concentration, RBC distribution width coefficient of variation, hemoglobin distribution width, macrocyte count, macrocyte percentage, RBC (optical), and reticulocyte production index). Few parameters had undetectable levels in our healthy cohort (i.e., nucleated RBC count and immature granulocyte count). Conclusions: The current study completed hematological profiling for 79 parameters on the BC‐6800Plus system in a healthy cohort of Canadian children and adolescents. These data emphasize the complex biological patterns of hematology parameters in childhood, particularly at the onset of puberty, and support the need for age‐ and sex‐specific RIs for clinical interpretation. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
49. Higher accuracy of surgical over core needle biopsy for the diagnosis of lymphoproliferative disorders.
- Author
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Pizzi, Marco, Sbaraglia, Marta, Dal Santo, Luca, De Bartolo, Debora, Santoro, Luisa, Scarmozzino, Federico, Mussolin, Lara, Pillon, Marta, Piazza, Francesco, Trentin, Livio, and Dei Tos, Angelo Paolo
- Subjects
LYMPHOMA diagnosis ,RESEARCH evaluation ,LYMPH nodes ,RETROSPECTIVE studies ,HISTOLOGICAL techniques ,DESCRIPTIVE statistics ,LYMPHOPROLIFERATIVE disorders ,SENSITIVITY & specificity (Statistics) ,NEEDLE biopsy - Abstract
Introduction: The diagnosis of lymphoproliferative disorders (LPDs) is based on histological evaluation of representative tissue samples. Despite surgical excision biopsies (SEBs) are reference procedures for such diagnoses, lymph node core needle biopsies (LNCBs) are increasingly performed. The diagnostic yield of LNCB is, however, debated and few studies have compared the reproducibility of LNCB and SEB findings. Methods: To address the diagnostic value of LNCB and SEB, the present study considered a retrospective series of 43 paired LNCB/SEB samples. After histological revision, concordance rates between matched LNCB/SEB samples were evaluated, assuming SEB as gold standard procedure. The actionability of LNCB and SEB‐based diagnoses (i.e., relevance for planning further medical interventions) was also assessed. Results: Overall, LNCB provided actionable diagnoses in 39/43 (90.7%) cases, but a consistent subset of them (7/39 [17.9%]) turned out to be wrong at SEB. The cumulative diagnostic inaccuracy of LNCB (i.e., inadequate samples plus wrong diagnoses) was 25.6% and the mean diagnostic delay in such cases was 54.2 days. Conclusions: Although limited by selection biases due to its retrospective nature, this study highlights the intrinsic limitations of LNCB for the diagnosis of LPDs. SEB remains the gold standard procedure and should be performed in all suitable cases. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
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50. Plasma long noncoding RNAs lncDC and THRIL as potential diagnostic markers of adult primary immune thrombocytopenia.
- Author
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Jiang, Nan, Wang, Yin, Feng, Qi, Wang, Shuwen, Leng, Shaoqiu, Zhang, Xiaoyu, Liu, Qiang, Peng, Jun, and Li, Xin
- Subjects
BIOMARKERS ,CLINICAL pathology ,REVERSE transcriptase polymerase chain reaction ,KRUSKAL-Wallis Test ,CONFIDENCE intervals ,RNA ,CASE-control method ,BLOOD collection ,MANN Whitney U Test ,SYMPTOMS ,RESEARCH funding ,DESCRIPTIVE statistics ,CHI-squared test ,STATISTICAL hypothesis testing ,PLATELET count ,THROMBOCYTOPENIA ,RECEIVER operating characteristic curves ,SENSITIVITY & specificity (Statistics) ,DATA analysis software ,HEMORRHAGE ,ADULTS - Abstract
Introduction: Immune thrombocytopenia (ITP) is a common acquired hemorrhagic disease without "gold standard" for the diagnosis, long non‐coding RNA (lncRNAs) can participate in regulating gene expression through various mechanisms and may play a role in immune intolerance in ITP. Several previous studies have confirmed that lncRNA lncDC and THRIL are involved in the development of autoimmune diseases. This study investigates the relationship between expression levels of two plasma lncRNAs (lncDC and THRIL) and clinical characteristics of adult primary ITP patients, ascertain their potential applications as diagnostic markers of ITP. Methods: We recruited 102 subjects, including 41 ITP patients, 41 healthy controls (HCs) and 20 patients under myelosuppression phase after chemotherapy (MS). qRT‐PCR was used to detect the expression of two lncRNAs in the peripheral blood plasma of the three groups. Receiver operating characteristic (ROC) curves were used to test the diagnostic efficacy of lncDC and THRIL in ITP. Results: The expression level of lncDC was downregulated in ITP patients compared with HCs (p =. 012) and MS (p =.035), whereas THRIL was significantly upregulated (p =.0005, p <. 0001). We further revealed that lncDC has a high sensitivity (78. 05%), while THRIL has a high specificity (97. 56%). The area under the curve (AUC) (0.869, 95% CI: 0.795–0.943, p <.0001) of the ROC curve for this combination increased significantly. Conclusions: THRIL and lncDC expression levels were changed in adult ITP patients. The lncRNAs lncDC and THRIL can serve as potential diagnostic markers for adult primary ITP. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
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