FLAER Based Assay According to Newer Guidelines Increases Sensitivity of PNH Clone DetectionAbstract
Flow cytometry has become ‘gold standard’ for detecting abnormal clones in paroxysmal nocturnal hemoglobinuria (PNH), aplastic anemia (AA) and myelodysplastic syndrome (MDS). This pilot study was conducted in 2015 with a primary aim to evaluate the utility of single tube fluorescent aerolysin (FLAER) based testing and its comparison with two tubes non-FLAER based testing (CD55, CD59, CD24 and CD66b) in detecting abnormal PNH clones in these newly diagnosed cases. The secondary aim was an attempt to distinguish PNH from AA/MDS cases associated with PNH clones based on clinical, laboratory features and clone size at diagnosis. In this study, the abnormal PNH clones were detected using a single tube FLAER based testing and two tubes non-FLAER based testing in all cases of PNH (n = 12), healthy subjects (n = 18) and AA/MDS with PNH clone (n = 9) and compared with clinical and laboratory features at diagnosis. The receiver operator curve (ROC) analysis defined the optimal cut-offs for FLAER in granulocytes (> 0.7%) and monocytes (> 0.9%). There was significant positive correlation between FLAER and non-FLAER based testing in these cells (r > 0.3 and p < 0.05). FLAER based testing helped us in picking up smaller clones which were missed by latter technique in four patients thereby increasing its sensitivity and also technically proved to be cost-effective (Rs. 1800 vs. Rs. 2100). Even in PNH patients, the clone size was slightly higher by using FLAER when compared to non-FLAER based antibodies panel. The clone size of monocytes was always higher than granulocytes in both PNH and AA/MDS groups. Bone marrow cellularity and mean size of granulocytes and monocytes clone at diagnosis showed a striking statistically significant ‘p’ value of < 0.0001 between these groups. In this pilot study, a single tube FLAER based PNH testing had improved clone detection in all cases of PNH, AA/MDS with PNH clones. The clone size was > 30% in majority of PNH cases whereas in AA/MDS, it was usually < 10% at diagnosis. Hence this newer technique not only increased the sensitivity of PNH clone detection but also proved to be cost-effective.
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Experience of Immune Tolerance Induction Therapy for Hemophilia A Patients with Inhibitors from a Single Center in IndiaAbstract
The availability of clotting factor concentrates of both factor VIII and factor IX have improved hemophilia treatment to a great extent. Many more improvements like physiotherapy, and comprehensive care are needed to give better care. One important complication that occurs, but is often set aside is the development of inhibitors. When an inhibitor develops in a patient of severe hemophilia then the care becomes more difficult and expensive. Eradication of the inhibitor is possible by Immune tolerance induction (ITI), this paper explains some important essential factors and practical issues during my experience with ITI.
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Expression Pattern and Prognostic Significance of EVI1 Gene in Adult Acute Myeloid Leukemia Patients with Normal KaryotypeAbstract
According to current criteria, patients with acute myeloid leukemia with normal karyotype (AML-NK) are classified as intermediate risk patients. There is a constant need for additional molecular markers that will help in substratification into more precise prognostic groups. One of the potential new markers is Ecotropic viral integration 1 site (EVI1) transcriptional factor, whose expression is dissregulated in abnormal hematopoietic process. The purpose of this study was to examine EVI1 gene expression in 104 adult AML-NK patients and on 10 healthy bone marrow donors using real-time polymerase chain reaction method, and to evaluate association between EVI1 expression level and other molecular and clinical features, and to examine its potential influence on the prognosis of the disease. Overexpression of EVI1 gene (EVI1+ status) was present in 17% of patients. Increased EVI1 expression was predominantly found in patients with lower WBC count (P = 0.003) and lower bone marrow blast percentage (P = 0.005). EVI1+ patients had lower WT1 expression level (P = 0.041), and were negative for FLT3-ITD and NPM1 mutations (P = 0.036 and P = 0.003). Patients with EVI1+ status had higher complete remission rate (P = 0.047), but EVI1 expression didn’t influence overall and disease free survival. EVI1 expression status alone, cannot be used as a new marker for more precise substratification of AML-NK patients. Further investigations conducted on larger number of patients may indicate how EVI1 expression could influence the prognosis and outcome of AML-NK patients, by itself, or in the context of other molecular and clinical parameters.
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Systemic Mastocytosis with Associated Primary Myelofibrosis |
Primary Cardiac Lymphoma |
The Characteristics of AIHA Patients Benefited from Glucocorticoid Treatment |
Erythrophagocytosis by Neutrophil and Monocyte in Autoimmune Hemolytic Anemia After Infection |
Cannibalistic Hemophagocytosis in Acute Myeloid Leukemia with Trisomy 9 |
Aplastic Crisis in a Woman with Autoimmune Hemolytic Anemia |
Conventional Cytogenetics and Interphase Fluorescence In Situ Hybridization Results in Multiple Myeloma: A Turkey Laboratory Analysis of 381 CasesAbstract
Multiple myeloma (MM) is an uncontrolled proliferation of plasma cells and these cells play an important role in the immune system. In this research, we retrospectively analyzed cytogenetic abnormalities in 381 patients with MM. Conventional cytogenetic analysis was successful in 354 patients (92.9%). Chromosomal abnormalities were detected in 31.9% (113/354) and 45.8% (116/253) of patients screened with conventional cytogenetics and FISH, respectively. Of 113 patients with chromosomal abnormalities, 31 patients (27.4%) had hyperdiploid and 26 of 31 patients with hyperdiploidy had both numerical and structural anomalies. On the other hand, non-hyperdiploidy was observed in 62 patients (54.8%). The most common gains of chromosomes were 15, 9, 19 followed by 3, 5, 11, and 21. Whole chromosome losses were also frequent involving Y, 13 and 22 chromosomes. In our patients, 1q gain was determined in a total of 25 patients (22%), including 7 structural abnormalities and 19 unbalanced translocations causing complete or partial duplication of the long arm of chromosome 1. Although the breakpoints were different, t(1;5) balanced translocation and unbalanced translocations of t(1;2), t(1;3), t(1;7), t(1;16) and t(1;19) were observed twice. The most common structural abnormality was the deletion of the short arm of chromosome 13 (13q) or monosomy of chromosome 13 (-13) (24.1%, 61/253) in patients evaluated by FISH. Deletion involving chromosome 17p (del 17p) or monosomy of chromosome 17 (-17) were found in 31 (12.3%) patients. Translocations involving IgH regions were as follows: t(11;14)(q13;q32.33) in 22 (8.7%), t(4;14)(p16.3;q32.33) in 22 (8.7%) and t(14;16)(q32.33;q23.1) in 2 (0.8%) patients. In addition, t(14;17)(q32;q21) translocation was detected in a multiple myeloma patient for the first time in this study. There are a limited number of large study groups including both cytogenetic and FISH findings in MM patients. As the number of these studies increases, it is thought that new cytogenetic data can be guiding especially in clinical risk determination.
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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Τρίτη 5 Νοεμβρίου 2019
Αναρτήθηκε από
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
στις
10:21 μ.μ.
Ετικέτες
00302841026182,
00306932607174,
alsfakia@gmail.com,
Anapafseos 5 Agios Nikolaos 72100 Crete Greece,
Medicine by Alexandros G. Sfakianakis,
Telephone consultation 11855 int 1193
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