Various aspects of myeloproliferative chronic myelomonocytic leukemia (MP-CMML) and myelodysplastic CMML (MD-CMML) have been reported but inconsistencies remain. This study conducted a comprehensive retrospective analysis clinical, pathological, molecular data from cohort CMML. The results revealed higher frequency ASXL1 NRAS mutations greater mutation burden in MP-CMML, characterized by more tier 1 or 2 variants dominant mutations. Significant genotype-phenotype correlations were observed,...

Abstract T-cell large granular lymphocyte leukemia (T-LGL) is often accompanied by pure red cell aplasia (PRCA). A high depth of next generation sequencing (NGS) was used for detection the mutational profiles in T-LGL alone (n = 25) and combined with PRCA 16). Beside STAT3 mutation (41.5%), frequently mutated genes included KMT2D (17.1%), TERT (12.2%), SUZ12 (9.8%), BCOR (7.3%), DNMT3A RUNX1 (7.3%). Mutations promoter showed a good response to treatment. 3 41 (7.3%) patients diverse gene...

재난은 취약계층에게 상대적으로 더 큰 피해를 가져다줄 수 있기 때문에 이들의 경감시키기 위한 지원 정책은 중요하다. 본 연구에서는 재난을 관리할 의무를 가지고 있는 지방정부가 재난취약계층을 지원하기 조례를 제정하는 데 영향을 미치는 요인을 파악하여, 지방정부의 재난취약계층 지원에 대한 정책적 시사점을 제시해보고자 한다. 연구는 정책 확산 이론, 제도주의 조직론 그리고 합리적 선택이론에 근거하여 지방정부 재난취약계층지원 조례 제정의 영향요인으로 요인, 수요 재난 역량, 조직 역량을 주요하게 고려했다. 분석결과, 외부적 요인인 수평적 확산, 역할 등위와 내부적 노인 인구, 예산, 지역안전지수(생활안전), 재정자주도가 제정에 주는 것으로 나타났다. 연구의 결과는 지원을 확대하기 위해 광역 단위의 관한 정책이 마련될 필요성과 재난예산 확보 및 지역안전지수의 활용의 필요성을 보여준다. 또한, 향후 지원은 지역 내 정책수요를 고려하여 실시될 필요성이 있음을 시사한다.

Background To investigate the prognostic value of gene variants and copy number variations (CNVs) in patients with newly diagnosed multiple myeloma (NDMM), an integrative genomic analysis was performed. Methods Sixty-seven NDMM exhibiting more than 60% plasma cells bone marrow aspirate were enrolled study. Whole-exome sequencing conducted on nucleated cells. Mutation CNV analyses performed using CNVkit Nexus Copy Number software. In addition, karyotype fluorescent situ hybridization utilized...

Telomere length (TL) is a prognostic indicator in Caucasian chronic lymphocytic leukemia (CLL), but its significance Asian CLL remains unknown. To investigate the of TL and correlation with cytogenetic aberrations somatic mutations, we analyzed measurements at cellular level by interphase fluorescence situ hybridization patients Korea. The present study enrolled 110 (41 females 69 males) diagnosed according to World Health Organization criteria (2001-2017). TLs bone marrow nucleated cells...

Serological weak D is a reaction of 2+ or less to anti-D reagent and includes partial phenotypes. Although identifying the RhD subtype important for transfusion safety, serological tests are insufficient defining subtype, molecular needed. To analyze characteristics variants in Koreans facilitate formulation individualized strategies, such as genotyping using real-time polymerase chain (PCR) partial-D and/or weak-D sequence-specific amplification (SSP) were performed on 105 Korean Rare Blood...

Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients context bone marrow (BM) histology clinical phenotype. Whole-exome sequencing (WES) or targeted was performed on BM peripheral blood specimens 16 diagnosed with based exam from 2009 2018. Absolute count myeloperoxidase (MPO)-positive cells calculated using ImageJ software. Semi-quantitation MPO-positive...

Abstract Objectives We aimed to determine whether small paroxysmal nocturnal hemoglobinuria (PNH) clones detected by flow cytometry (FCM) harbor PIG gene mutations with quantitative correlation. Methods analyzed 89 specimens from 63 patients whose PNH clone size was ≥0.1% FCM. performed ultradeep sequencing for the PIGA, PIGM, PIGT, and PIGX genes in these specimens. Results A strong positive correlation between FCM variant allele frequency (VAF) of mutation identified (RBCs: r = 0.77, P...

Co-occurrence of multiple myeloma and acute myelogenous leukemia is rare, with both malignancies often tracing back to multipotent hematopoietic stem cells. Cytogenetic techniques are the established baseline for diagnosis characterization complex hematological malignancies. In this study, we develop a workflow called Hema-seq delineate clonal changes across various lineages through integration whole-genome sequencing, copy-number variations, cell morphology, cytogenetic aberrations....

The translocation (3;21)(q26.2;q22.1) is a unique cytogenetic aberration that characterizes acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) in patients AML and myelodysplastic syndrome (MDS) or therapy-related neoplasm. Using multigene target sequencing FISH, we investigated the clinical genomic profiles of t(3;21) over past 10 years. frequency among malignancies was very low (0.2%). Half had history cancer treatment remaining de novo MDS. Twenty-one somatic variants...

Introduction: We aimed to investigate parameters for prediction of post-operative blood loss and re-operation in patients who underwent cardiopulmonary bypass. Methods: Thrombin generation assay, activated partial thromboplastin time, clotting time rotational thromboelastometry (ROTEM) tests were performed at 4 points 65 patients: before skin incision (T1), after heparin injection (T2), protamine reversal (T3) closure (T4). Results: Pre-operative endogenous thrombin potential (ETP) peak...

Next-generation flow (NGF) has detected minimal residual disease (MRD) in numerous myeloma patients who achieve a complete response (CR). However, when MRD is not via NGF non-CR patients, its clinical meaning uncertain. Here, we investigated the correlation between findings on and criteria, paying special attention to with discrepant results. We performed NGS analysis of IgH rearrangements bone marrow samples from negative NGF. abnormal clones those suggesting that should be used...

Plasma cell leukemia (PCL) is clinically and genetically distinct from multiple myeloma (MM), despite controversies regarding the disease definition. To determine features of PCL, genetic property primary PCL (pPCL) was compared with that secondary (sPCL) MM. In patients pPCL, Eighty-nine non-synonymous mutations were observed in 68 genes. The most frequently mutated genes TP53, TSC2, TYK2. comparison abnormalities sPCL MM, 45 present only pPCL while 28 22 Among common between a higher...

Abstract T-cell large granular lymphocyte leukemia (T-LGL) is often accompanied by pure red cell aplasia (PRCA). A high depth of next generation sequencing (NGS) was used for detection the mutational profiles in T-LGL alone (n = 25) and combined with PRCA 16). Beside STAT3 mutation (41.5%), frequently mutated genes included KMT2D (17.1%), TERT (12.2%), SUZ12 (9.8%), BCOR (7.3%), DNMT3A RUNX1 (7.3%). Mutations promoter showed a good response to treatment. Concomitant myelodysplastic syndrome...

We investigate economic fluctuations in 16 regions of Korea by decomposing them into national common and cluster factors using an endogenously clustered dynamic factor model. Each is extracted regional activity variables (output, consumption, investment), clusters are determined based on the characteristics activities. Our results show that estimated captures dynamics real GDP private consumption growth. find investment activities, volatility statistically significant determinants factors....

Topic: 12. Bone marrow failure syndromes incl. PNH - Clinical Background: T-cell large granular lymphocyte leukemia (T-LGL) is a mature neoplasm of T cells. Autoimmune diseases are often associated with T-LGL in Western countries, while pure red cell aplasia (PRCA) more reported Asian countries. Development PRCA occurs along various underlying such as thymoma, T-LGL, and autoimmune diseases. It also bone syndrome (BMFS) aplastic anemia myelodysplastic (MDS). The discovery somatic mutations...