Background The germline mutations of DDX41, also known as DEAD box RNA helicase 41, have been found in about 1.5% of myeloid neoplasms (MNs). Development of MDS/AML is relatively common in germline DDX41 mutations. However, a variety of hematological malignancies (HMs) have been reported. Case presentation We report a novel case of bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia (B-ALL), with unusual location of DDX41 mutations. The gene expression profile (GEP) of Ph + B-ALL with bi-alleleic DDX41 mutations showed heterogeneously transitional GEP and altered gene expression levels of genes involved in the process essential for red blood cells and myeloid cell differentiation were noted. Conclusions We report that DDX41 mutations are unusual but can be an underlying event in Ph + B-ALL and screening DDX41 mutations can be also informative for patients awaiting for haploidentical stem cell transplantation and choosing the therapy.
Background: According to increased availability and awareness of automated blood bank analyzer with its speed and efficiency, use of automated analyzer in hospital blood bank has been increasing rapidly. We compared the ABO blood group typing results between automated analyzer IH-500 and manual method in healthy adults and patients with ABO discrepancies to provide useful information on interpretation of blood grouping results by automated analyzer. Methods: Among healthy adults who underwent medical examinations, 400 samples (each 100 samples of A, B, O and AB type) were selected and evaluated the results and grades of blood grouping by automated and manual methods. Also, 50 samples showing ABO discrepancies among patients requested for pretransfusion test were selected and compared between two methods. As for samples with ABO discrepancies, further tests such as microscopic examination, reactivity with anti-A1 or ABO genotyping along with medical record review were performed. Results: Agglutination results and grades in healthy adults were consistent between two methods. Meanwhile, 30 (60%) of ABO discrepant samples were related to rouleaux formation and their frequencies and agglutination grades were higher in automated method (Wilcoxon signed rank test, P=0.001). Results of discrepant samples caused by unexpected antibody or ABO subgroup showed no differences between two methods. Conclusion: IH-500 automated analyzer was considered useful for mass examination of healthy individuals. Meanwhile, considering the fact that ABO discrepancies by rouleaux formation were more frequent and stronger in automated method, it is recommended to retest their results by manual methods along with medical record review.
Following the original severe acute respiratory syndrome coronavirus 2 strain (Wuhan-Hu-1) in December 2019, the Delta variant in May 2021 and the Omicron variant in December 2021 were classified as variants of concern. The pandemic has been ongoing for more than two years, and the three-dose vaccination rate has reached approximately 50% in Korea. We analyzed anti-S antibodies (Abs) and neutralizing Abs (NAbs) in 32 healthcare workers at a university hospital, focusing on the first to third doses of ChAdOx1-ChAdOx1-BNT162b2, which is the most common vaccination regimen in Korea. Antibodies were analyzed at eight time points according to the vaccine regimen. The first to third doses of ChAdOx1-ChAdOx1-BNT162b2 produced high Ab concentrations; NAb concentrations after the third dose were predicted to remain high for a longer period than those after the first and second doses. The effectiveness of a second dose of ChAdOx1 in the real world was demonstrated by analyzing samples collected during an outbreak that occurred in the study period, 4-5 months after the second dose. The relative risk ratio was 88.0%, and the efficacy of the second ChAdOx1 dose was 12.0% (P < 0.05). Therefore, maintaining appropriate Ab concentrations through regular vaccination will help protect against coronavirus disease-19.
Background: In the author's blood bank, if the Ab screening test results are positive in the pretransfusion test, an Ab identification test and polyspecific direct antiglobulin test (DAT) are performed. IgG and C3 monospecific DATs are also performed if the polyspecific DAT is positive. To perform additional tests, clinical technologists used to communicate with the clinical department by telephone, and then the clinical doctor issued the orders. There could be problems with this process, such as clerical errors and reduced work efficiency. Therefore, this study developed the secondary order program to improve the work efficiency of the blood bank. Methods: The secondary order program that allows the laboratory medicine doctors to issue additional test orders, print out barcodes in blood bank, and immediately report the results to the EMR (Electronic Medical Record) was developed. Before (Jul 2018∼Jun 2019) and after (Jul 2019∼Jun 2020) applying the program to inpatients, the number of telephone calls, Ab screening tests, Ab identification tests, polyspecific DAT, and monospecific DAT were compared to evaluate the effectiveness of the program. Results: After applying the program, 515 calls per year (average 43 calls per month) were reduced. Before the program, the results of 68 Ab screening tests and 16 polyspecific DATs were not reported on EMR, but no case was missed after the program. Conclusion: Through the secondary order program, the work efficiency of the blood bank was improved. It is expected that expanding this program to other blood bank tests will help implement tests faster and make them more systematic.
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