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1.
Sci Rep ; 14(1): 8517, 2024 04 12.
Article in English | MEDLINE | ID: mdl-38609396

ABSTRACT

This study aimed to validate the 2022 European LeukemiaNet (ELN) risk stratification for acute myeloid leukemia (AML). A total of 624 newly diagnosed AML patients from 1998 to 2014 were included in the analysis. Genetic profiling was conducted using targeted deep sequencing of 45 genes based on recurrent driver mutations. In total, 134 (21.5%) patients had their risk classification reassessed according to the 2022 ELN risk stratification. Among those initially classified as having a favorable risk in 2017 (n = 218), 31 and 3 patients were reclassified as having intermediate risk or adverse risk, respectively. Among the three subgroups, the 2022 ELN favorable-risk group showed significantly longer survival outcomes than the other groups. Within the 2017 ELN intermediate-risk group (n = 298), 21 and 46 patients were reclassified as having favorable risk or adverse risk, respectively, and each group showed significant stratifications in survival outcomes. Some patients initially classified as having adverse risk in 2017 were reclassified into the intermediate-risk group (33 of 108 patients), but no prognostic improvements were observed in this group. A multivariable analysis identified the 2022 ELN risk stratification, age, and receiving allogeneic hematopoietic cell transplantation as significant prognostic factors for survival. The 2022 ELN risk stratification enables more precise decisions for proceeding with allogeneic hematopoietic cell transplantation for AML patients.


Subject(s)
Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute , Humans , Genetic Profile , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/therapy , Risk Assessment
2.
Cancer Res Treat ; 56(3): 956-966, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38453275

ABSTRACT

PURPOSE: The role of allogeneic stem cell transplantation (alloSCT) in multiple myeloma (MM) treatment remains controversial. We conducted a retrospective, multicenter, nationwide study in Korea to evaluate the outcomes of alloSCT in Asian patients with MM. MATERIALS AND METHODS: Overall, 109 patients with MM who underwent alloSCT between 2003 and 2020 were included in this study. Data were collected from the Korean Multiple Myeloma Working Party Registry. RESULTS: The overall response rate and stringent complete response plus complete response (CR) rates were 67.0 and 46.8%, respectively, after alloSCT. At a median follow-up of 32.5 months, the 3-year probability of progression-free survival (PFS) and overall survival (OS) rates were 69.3% and 71.8%, respectively. The 3-year probabilities of OS rates in the upfront alloSCT, tandem auto-alloSCT, and later alloSCT groups were 75.0%, 88.9%, and 61.1%, respectively. Patients who achieved CR before or after alloSCT had significantly longer OS (89.8 vs. 18 months and 89.8 vs. 15.2 months, respectively). Even though patients who did not achieve CR prior to alloSCT, those who achieve CR after alloSCT had improved PFS and OS compared to those who had no achievement of CR both prior and after alloSCT. Patients who underwent alloSCT with 1-2 prior treatment lines had improved PFS (22.4 vs. 4.5 months) and OS (45.6 vs. 15.3 months) compared to those with three or more prior treatment lines. CONCLUSION: AlloSCT may be a promising therapeutic option especially for younger, chemosensitive patients with earlier implementation from relapse.


Subject(s)
Hematopoietic Stem Cell Transplantation , Multiple Myeloma , Transplantation, Homologous , Humans , Multiple Myeloma/therapy , Multiple Myeloma/mortality , Male , Retrospective Studies , Female , Middle Aged , Republic of Korea/epidemiology , Hematopoietic Stem Cell Transplantation/methods , Adult , Aged , Registries , Survival Rate
3.
Ann Lab Med ; 44(5): 455-458, 2024 Sep 01.
Article in English | MEDLINE | ID: mdl-38373792

ABSTRACT

Educating primary care physicians about blood donation and transfusion is critical. The Division of Hematology and Oncology at Soonchunhyang University Seoul Hospital in Korea introduced an on-site educational program termed the Blood Donation Center Visiting Program in the clerkship education for final-year medical students. We evaluated the educational outcomes and changes in perception among medical students after the Blood Donation Center Visiting Program based on a survey. The program was implemented from 2021 to 2023. As part of the program, students visited a blood donation center each week, one group at a time. They gained practical knowledge about the blood donation process, and some students actively participated in blood donation. After the program, 287 students were eligible for an online survey of the program, of whom 203 participated in the survey. Among the 203 students, 126 (62.1%) donated blood during their visit to the blood donation center as part of the program, and 88.7% of the students reported an increase (from 71.4% to 90.1%) in their knowledge and willingness to donate blood. The on-site educational Blood Donation Center Visiting Program appears to have generated positive changes in perceptions among students and enhanced their knowledge about blood donation.


Subject(s)
Blood Donors , Students, Medical , Humans , Students, Medical/psychology , Surveys and Questionnaires , Blood Donors/psychology , Health Knowledge, Attitudes, Practice , Republic of Korea , Perception , Female , Male , Young Adult , Blood Donation
4.
Curr Drug Deliv ; 21(5): 785-793, 2024.
Article in English | MEDLINE | ID: mdl-37016528

ABSTRACT

BACKGROUND: The latest technology trend in targeted drug delivery highlights stimuliresponsive particles that can release an anticancer drug in a solid tumor by responding to external stimuli. OBJECTIVE: This study aims to design, fabricate, and evaluate an ultrasound-responsive drug delivery vehicle for an ultrasound-mediated drug delivery system. METHODS: The drug-containing echogenic macroemulsion (eME) was fabricated by an emulsification method using the three phases (aqueous lipid solution as a shell, doxorubicin (DOX) contained oil, and perfluorohexane (PFH) as an ultrasound-responsive agent). The morphological structure of eMEs was investigated using fluorescence microscopy, and the size distribution was analyzed by using DLS. The echogenicity of eME was measured using a contrast-enhanced ultrasound device. The cytotoxicity was evaluated using a breast cancer cell (MDA-MB-231) via an in vitro cell experiment. RESULTS: The obtained eME showed an ideal morphological structure that contained both DOX and PFH in a single particle and indicated a suitable size for enhancing ultrasound response and avoiding complications in the blood vessel. The echogenicity of eME was demonstrated via an in vitro experiment, with results showcasing the potential for targeted drug delivery. Compared to free DOX, enhanced cytotoxicity and improved drug delivery efficiency in a cancer cell were proven by using DOX-loaded eMEs and ultrasound. CONCLUSION: This study established a platform technology to fabricate the ultrasound-responsive vehicle. The designed drug-loaded eME could be a promising platform with ultrasound technology for targeted drug delivery.


Subject(s)
Antineoplastic Agents , Nanoparticles , Neoplasms , Humans , Doxorubicin/chemistry , Drug Delivery Systems/methods , Antineoplastic Agents/chemistry , Neoplasms/drug therapy , Ultrasonography , Cell Line, Tumor , Drug Liberation , Nanoparticles/chemistry
5.
Langmuir ; 40(1): 91-99, 2024 01 09.
Article in English | MEDLINE | ID: mdl-38146661

ABSTRACT

Chemotherapy is the most widely used cancer treatment, but it has several drawbacks such as adverse side effects and low bioavailability. To address these limitations, various drug delivery systems have been investigated, including liposomes, micelles, and emulsions. These drug delivery technologies have been improving the efficacy and safety of conventional chemotherapy. This study presents an emerging drug delivery technology for targeted chemotherapy using drug-loaded ultrasound-responsive emulsion (URE) as a drug carrier and ultrasound technology for external activation. URE was designed to be responsive to ultrasound energy and fabricated by using an emulsification technique. To investigate this technology, paclitaxel, as a model drug, was used and encapsulated into URE. The size distribution, morphology, and drug release behavior of paclitaxel-loaded URE (PTX-URE) were characterized, and the echogenicity of PTX-URE was assessed by using ultrasound imaging equipment. The cellular uptake and cytotoxicity of PTX-URE with ultrasound were evaluated in breast cancer cells (MDA-MB-231). Our in vitro results indicate that the combination of PTX-URE and ultrasound significantly enhanced cellular uptake by 10.6-fold and improved cytotoxicity by 24.1% compared to PTX alone. These findings suggest that the URE platform combined with ultrasound is a promising technology to improve the drug delivery efficiency for chemotherapy.


Subject(s)
Drug Delivery Systems , Paclitaxel , Paclitaxel/pharmacology , Emulsions , Cell Line, Tumor , Drug Delivery Systems/methods , Ultrasonography , Drug Carriers/toxicity , Micelles
6.
Int J Lab Hematol ; 45(6): 853-859, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37501518

ABSTRACT

INTRODUCTION: The role of inflammation in the pathophysiology of polycythemia vera (PV) is important. The presence of JAK2 mutations is important in the diagnosis of PV, and serum levels of erythropoietin (EPO) also play a supporting role. However, serum EPO levels show some limitations. The neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are a readily available marker of inflammation. Thus, we examined whether NLR & PLR might diagnose PV in erythrocytosis patients. We compared NLR & PLR and EPO diagnostic values. METHODS: We retrospectively reviewed clinical and laboratory data from two referral hospitals. Two hundred and eighty-five patients with erythrocytosis who underwent a test for the JAK2 mutation were included. It wac classified as the PV group and the secondary polycythemia (SP) group. RESULTS: The median NLR & PLR in the PV group (n = 70) was significantly higher than that in the SP group (n = 170) (NLR: 6.04 vs. 1.77, PLR: 283.18 vs. 101.56, respectively, p < 0.001). In the receiver operating characteristic analysis, the area under the curve of NLR & PLR was significantly higher than that of serum EPO (NLR vs EPO: 0.921 vs. 0.827, p = 0.003; PLR vs EPO: 0.917 vs 0.827, p = 0.003). CONCLUSION: In conclusion, NLR & PLR were higher in PV than in SP and showed better diagnostic value than serum EPO level, highlighting their potential as minor diagnostic criteria in patients with PV.


Subject(s)
Polycythemia Vera , Polycythemia , Humans , Polycythemia Vera/diagnosis , Neutrophils , Polycythemia/diagnosis , Retrospective Studies , Blood Platelets , Lymphocytes , Inflammation , Prognosis
7.
Blood Cancer J ; 13(1): 95, 2023 06 26.
Article in English | MEDLINE | ID: mdl-37365207

ABSTRACT

This study aimed to identify the benefits of autologous-stem cell transplantation (auto-SCT) and allogeneic-SCT (allo-SCT) in patients with aggressive T-cell lymphomas to aid in the selection of transplantation type in clinical practice. This study retrospectively analyzed data from 598 patients who underwent transplantation for T-cell lymphomas from 2010 to 2020. In total, 317 patients underwent up-front SCT as consolidation therapy. The 3-year progression-free survival (PFS) and overall survival (OS) were 68.7% and 76.1%, respectively. Patients who underwent auto-SCT had significantly better OS (p = 0.026) than those who underwent allo-SCT; however, no statistical difference in PFS was found. Transplantation was used as a salvage therapy in 188 patients who had relapsed/refractory disease. Overall, 96 (51.1%) patients underwent auto-SCT and 92 (48.9%) patients underwent allo-SCT. Auto-SCT improved long-term survival in patients with complete remission (CR). Allo-SCT demonstrated better 3-year PFS in patients with partial remission and relapsed/refractory disease status. However, >50% of patients died within 1 year of allo-SCT. As a consolidative therapy, up-front auto-SCT demonstrated a survival benefit. Auto-SCT was also effective in patients who achieved CR after salvage therapy. If the disease persists or cannot be controlled, allo-SCT may be considered with reduced intensity conditioning.


Subject(s)
Hematopoietic Stem Cell Transplantation , Lymphoma, T-Cell , Humans , Retrospective Studies , Transplantation, Homologous , Stem Cell Transplantation , Transplantation, Autologous , Treatment Outcome , Disease-Free Survival
9.
Blood Res ; 58(S1): 83-89, 2023 Apr 30.
Article in English | MEDLINE | ID: mdl-37105562

ABSTRACT

Myeloproliferative neoplasms (MPNs) are clonal disorders of hematopoietic stem cells; these include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). MPNs are inflammatory cancers, wherein the malignant clone generates cytokines that sustain the inflammatory drive in a self-perpetuating vicious cycle. The course of MPNs follows a biological continuum, that is, from early cancer stages (ET/PV) to advanced myelofibrosis as well as impending leukemic transformation. MPN-related symptoms, e.g., fatigue, general weakness, and itching, are caused by inflammatory cytokines. Thrombosis and bleeding are also exacerbated by inflammatory cytokines in patients with MPN. Until recently, the primary objective of ET and PV therapy was to increase survival rates by preventing thrombosis. However, several medications have recently demonstrated the ability to modify the course of the disease; symptom relief is expected for most patients. In addition, there is increasing interest in the active treatment of patients at low risk with PV and ET. This review focuses on the ET/PV treatment strategies as well as novel treatment options for clinical development.

10.
Nutrients ; 15(3)2023 Jan 30.
Article in English | MEDLINE | ID: mdl-36771397

ABSTRACT

Iron deficiency anemia (IDA) is the most prevalent and common nutritional deficiency worldwide and is a global health problem with significant risk, particularly among women of reproductive age. Oral iron supplementation is the most widely used and cost-effective treatment for iron deficiency and IDA. However, there are limitations regarding side effects such as enteritis, treatment compliance, and bioavailability. Intestinal microbiome characteristic research has been recently conducted to overcome these issues, but more is needed. Against this background, a metagenomics study on the 16S gene in the feces of young women vulnerable to IDA was conducted. As a result of analyzing 16 normal subjects and 15 IDA patients, significant differences in bacterial community distribution were identified. In particular, a significant decrease in Faecalibacterium was characteristic in IDA patients compared with normal subjects. Furthermore, in the case of patients who recovered from IDA following iron supplementation treatment, it was confirmed that Faecalibacterium significantly recovered to normal levels. However, no significance in beta diversity was seen compared with before treatment. There were also no differences in the beta diversity results between the recovered and normal subjects. Therefore, intestinal dysbiosis during the disease state was considered to be restored as IDA improved. Although the results were derived from a limited number of subjects and additional research is needed, the results of this study are expected to be the basis for developing treatment and prevention strategies based on host-microbiome crosstalk in IDA.


Subject(s)
Anemia, Iron-Deficiency , Gastrointestinal Microbiome , Iron Deficiencies , Microbiota , Humans , Female , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/drug therapy , Iron/therapeutic use
11.
Cancer Res Treat ; 55(3): 1011-1022, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36701843

ABSTRACT

PURPOSE: We evaluated the characteristics of CCAAT/enhancer-binding protein α (CEBPA) mutations and the significance of a basic leucine zipper in-frame mutation (bZIPin-f) of CEBPA in patients with acute myeloid leukemia with a normal karyotype. Materials and Methods: Based on updated knowledge of CEBPA mutations, we conducted next-generation sequencing analyses in a previously established real-world cohort. RESULTS: Among 78 of a total of 395 patients (19.7%), 50 had bZIPin-f CEBPA, and 28 had non-bZIPin-f CEBPA. In the multivariate analysis, patients with NPM1mut, those with bZIPin-f CEBPA, and those who underwent allogeneic hematopoietic cell transplantation (allo-HCT) had favorable overall survival (OS), but FLT3-ITDmut was a poor prognostic indicator. For relapse-free survival (RFS) and cumulative incidence of relapse, bZIPin-f CEBPA, and allo-HCT were associated with favorable outcomes; FLT3-ITDpos was associated with worse outcomes. In the CEBPA double-mutated group (CEBPAdm), bZIPin-f CEBPA was associated with superior outcomes in terms of OS (p=0.007) and RFS (p=0.007) compared with non-bZIPin-f CEBPA. Of 50 patients with bZIPin-f CEBPA, 36 patients had at least one mutation. When grouped by the presence of mutations in chromatic/DNA modifiers (C), cohesion complex (C), and splicing genes (S) (CCS mutations), CCS-mutated bZIPin-f CEBPA was associated with poor OS (p=0.044; hazard ratio [HR], 2.419) and a trend in inferior RFS (p=0.186; HR, 1.838). CONCLUSION: Only bZIPin-f CEBPA was associated with favorable outcomes in patients with CEBPAdm. However, some mutations accompanying bZIPin-f CEBPA showed inferior OS; thus, further studies with larger numbers of patients are required for clear conclusions of the significance of bZIPin-f CEBPA.


Subject(s)
CCAAT-Enhancer-Binding Protein-alpha , Leukemia, Myeloid, Acute , Humans , CCAAT-Enhancer-Binding Protein-alpha/genetics , Clinical Relevance , Disease-Free Survival , Nucleophosmin , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/therapy , Mutation , Prognosis , Karyotype , CCAAT-Enhancer-Binding Proteins/genetics
12.
Cancer Res Treat ; 55(1): 304-313, 2023 Jan.
Article in English | MEDLINE | ID: mdl-35381164

ABSTRACT

PURPOSE: High-dose chemotherapy followed by autologous stem cell transplantation (ASCT) is the standard management for relapsed or high-risk non-Hodgkin's lymphoma (NHL). We reported the busulfan, melphalan, and etoposide (BuME) conditioning regimen was effective in patients with relapsed or high-risk NHL. Moreover, the busulfan, cyclophosphamide, and etoposide (BuCE) conditioning regimen has been used widely in ASCT for NHL. Therefore, based on these encouraging results, this randomized phase II multicenter trial compared the outcomes of BuME and BuCE as conditioning therapies for ASCT in patients with NHL. MATERIALS AND METHODS: Patients were randomly assigned to receive either BuME (n=36) or BuCE (n=39). The BuME regimen was comprised of busulfan (3.2 mg/kg/day, intravenously) administered on days -7, -6, and -5, etoposide (400 mg/m2 intravenously) on days -5 and -4, and melphalan (50 mg/m2/day intravenously) on days -3 and -2. The BuCE regimen was comprised of busulfan (3.2 mg/kg/day intravenously) on days -7, -6, and -5, etoposide (400 mg/m2/day intravenously) on days -5 and -4, and cyclophosphamide (50 mg/kg/day intravenously) on days -3 and -2. The primary endpoint was 2-year progression-free survival (PFS). RESULTS: Seventy-five patients were enrolled. Eleven patients (30.5%) in the BuME group and 13 patients (33.3%) in the BuCE group had disease progression or died. The 2-year PFS rate was 65.4% in the BuME group and 60.6% in the BuCE group (p=0.746). There were no non-relapse mortalities within 100 days after transplantation. CONCLUSION: There were no significant differences in PFS between the two groups. Therefore, busulfan-based conditioning regimens, BuME and BuCE, may be important treatment substitutes for the BCNU-containing regimens.


Subject(s)
Hematopoietic Stem Cell Transplantation , Lymphoma, Non-Hodgkin , Lymphoma , Humans , Hematopoietic Stem Cell Transplantation/methods , Etoposide , Busulfan/adverse effects , Melphalan/adverse effects , Transplantation, Autologous , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Lymphoma, Non-Hodgkin/drug therapy , Lymphoma, Non-Hodgkin/etiology , Cyclophosphamide , Behavior Therapy
13.
Bone Marrow Transplant ; 57(12): 1810-1819, 2022 12.
Article in English | MEDLINE | ID: mdl-36151367

ABSTRACT

Secondary-type mutations (STMs), namely SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, and STAG2, are more frequently detected in secondary acute myeloid leukemia (AML) than in de novo AML. Whether de novo AML with STMs should be differently managed is, however, unclear. In 394 patients diagnosed with de novo AML who had a normal karyotype, the genetic profiling via targeted deep sequencing of 45 genes revealed 59 patients carrying STMs (STM+). The STM+ group showed shorter overall survival (OS) than the STM- group (5-year OS, 15.3 vs. 31.0%) (hazard ratio [HR]: 1.975, 95% confidence interval [CI]: 1.446-2.699, p < 0.001). Among the 40 STM+ patients who achieved CR, those who received allogeneic HCT (n = 15) showed better OS (5-year OS, 40.0 vs. 12.0%) (HR: 0.423, 95% CI: 0.184-0.975, p = 0.043) and relapse-free survival (5-year, 40.0 vs. 8.0%) (HR: 0.438, 95% CI: 0.189-1.015, p = 0.054) than those who received consolidation chemotherapy only. The cumulative incidence of relapse was lower in the patients who received allogeneic HCT (5-year, 33.3 vs. 60.0%) (HR: 0.288, 95% CI: 0.111-0.746, p = 0.011), and non-relapse mortality was similar between the two groups (p = 0.935). In conclusion, STM is an independent prognostic factor for adverse outcomes in AML that can be overcome by allogeneic HCT.


Subject(s)
Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute , Humans , Disease-Free Survival , Leukemia, Myeloid, Acute/therapy , Leukemia, Myeloid, Acute/drug therapy , Prognosis , Mutation , Recurrence
14.
Blood Res ; 57(3): 207-215, 2022 Sep 30.
Article in English | MEDLINE | ID: mdl-35880496

ABSTRACT

Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for ß-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly. Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The ß-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (exact 95% CI, 0.0072‒1.5726). Conclusion: The detection rate of GD in probable high-risk patients in Korea was lower than expected. However, the role of hemato-oncologists is still important in the diagnosis of GD.

16.
Nutr Metab Cardiovasc Dis ; 32(8): 1913-1916, 2022 08.
Article in English | MEDLINE | ID: mdl-35606226

ABSTRACT

BACKGROUND AND AIMS: Chronic inflammation plays a critical role in the pathogenesis of myeloproliferative neoplasm (MPN), and inflammatory conditions are closely related to the development and exacerbation of atherosclerosis. This study aimed to compare carotid plaque burden and neutrophil-lymphocyte ratio (NLR) in the essential thrombocythemia (ET)/polycythemia vera (PV) and control groups. METHODS AND RESULTS: We retrospectively assessed carotid plaque burden and NLR in patients with ET/PV between January 2010 and September 2021 and propensity-score matched these patients to control subjects from the general population. All patients underwent carotid imaging using carotid ultrasonography for atherosclerosis screening. After 3:1 propensity-score matching, 140 patients in the control group were matched to 51 patients in ET/PV group. The mean NLR was significantly higher in the MPN group than in the control group (4.77 ± 3.96 vs. 1.93 ± 1.03, p < 0.001). The carotid plaque score was also higher in MPN group than in the control group (2.37 ± 1.47 vs. 1.94 ± 1.17, p = 0.038). CONCLUSION: Patients with PV/ET show a higher NLR and carotid plaque burden than the normal population. This reflected that PV/ET was a highly inflammatory and atherosclerotic condition expressing potentially increased cardiovascular risk.


Subject(s)
Atherosclerosis , Myeloproliferative Disorders , Polycythemia Vera , Thrombocythemia, Essential , Humans , Lymphocytes/pathology , Myeloproliferative Disorders/complications , Myeloproliferative Disorders/epidemiology , Neutrophils/pathology , Polycythemia Vera/diagnosis , Polycythemia Vera/etiology , Polycythemia Vera/pathology , Retrospective Studies , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/epidemiology
17.
BMC Med Genomics ; 15(1): 46, 2022 03 04.
Article in English | MEDLINE | ID: mdl-35246110

ABSTRACT

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.


Subject(s)
Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Precursor Cell Lymphoblastic Leukemia-Lymphoma , DEAD-box RNA Helicases/genetics , Germ-Line Mutation , Humans , Leukemia, Myeloid, Acute/genetics , Mutation , Myelodysplastic Syndromes/genetics
18.
Skin Res Technol ; 28(2): 291-298, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35034386

ABSTRACT

BACKGROUND: Sonophoresis can increase the delivery efficiency of various drugs into the skin. A recent advance in sonophoresis is the use of ultrasound-responsive liquid-core nuclei (URLN) to increase the probability of cavitation. In this study, we developed a URLN and ultrasound device, and demonstrated its effectiveness through in vitro and clinical tests. MATERIALS AND METHODS: Three types of experiments were designed to evaluate the efficiency of sonophoresis with URLN. First, a Franz diffusion cell with cosmetic ingredients was used to analyze quantitatively the amount of drug delivered to the porcine skin. Second, after the application of sonophoresis with URLN, the porcine skin surface was examined using scanning electron microscopy (SEM) to see the changes in morphology. Finally, a clinical test was performed to verify the utility of sonophoresis with URLN. RESULTS: The results indicate that sonophoresis with URLN can increase the amount of compound delivered by approximately 11.9-fold over 6 h for niacinamide and by 7.33-fold over 6 h for adenosine. In addition, we observed approximately 20-30 µm sized pores on porcine skin in SEM images. In clinical testing, the application of sonophoresis with cosmetics containing URLN for 3 min improved the efficiency of transdermal drug delivery by 1.9-fold, the depth of absorption by 2.0-fold, and the speed of absorption by 2.0-fold at 30 min after application. CONCLUSION: We expect that sonophoresis with specialized URLN in transdermal drug delivery could be used widely for various skin-related applications.


Subject(s)
Skin Absorption , Skin , Administration, Cutaneous , Animals , Drug Delivery Systems/methods , Humans , Pharmaceutical Preparations/metabolism , Skin/diagnostic imaging , Skin/metabolism , Swine , Ultrasonics/methods , Ultrasonography
19.
Chemosphere ; 294: 133746, 2022 May.
Article in English | MEDLINE | ID: mdl-35090852

ABSTRACT

Salt contents in soil or groundwater are one of the primary indicators to evaluate contamination levels. Electrical conductivity (EC) or salinity information from the conventional laboratory analysis is typically inefficient in delineating contamination. This study investigated a rapid determination of ionic contents in water through the combination of Ultraviolet Spectroscopy (UVS) and Electrochemical Impedance Spectroscopy (EIS), and the application of convolutional neural network (CNN). Various aqueous salt samples were prepared with Ca2+, K+, Na+, Cl-, Br-, SO42-, and HCO3- ions. Firstly, their spectral data obtained from UVS and EIS were analyzed. The spectral analysis showed that the data fusion of both spectroscopies provided more evidence to distinguish the ionic contents, consequently enhancing prediction performance of CNN. In turn, the fused spectra were handled with CNN to predict ionic contents. The result suggested the validity of the proposed method in detecting ionic contents by showing 48.6 mmol/kg RMSE and 0.95 R2 between actual and predicted ionic concentrations, which outperformed Partial Least Squares Regression (PLSR) and Random Forest. The detection of ionic contents beyond EC or salinity is advantageous since it provides more information on the soil and water contamination, and it facilitates tracking the contaminant sources. The proposed method has the potential to become more accurate with increased datasets and further optimization of CNN, which will further improve the practicability.


Subject(s)
Neural Networks, Computer , Water , Ions , Soil/chemistry , Spectrum Analysis/methods
20.
Mar Pollut Bull ; 173(Pt B): 113061, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34688085

ABSTRACT

Thirteen trace metals and Zn isotopic signatures were investigated in mussels and oysters collected from the coast of South Korea to evaluate their bioavailability in bivalve mollusks. The average Cu, Zn, and Cd concentrations were 2.6-17.7 times higher in oysters than mussels, and high biota sediment accumulation factors (>30) were observed for these metals in oysters. Except for Pb in mussels, most metals had no correlation with total sediment concentrations. In oysters, Fe, V, Cu, Zn, Sn, and Pb concentrations were significantly correlated with sediments. The average values of δ66ZnIRMM3702 in mussels, oyster, and sediments were +0.09‰, +0.12‰, and -0.06‰, respectively. Soft tissues of mussels and oysters with high Zn concentrations tended to contain lighter Zn isotopes. The results indicate that oysters are a better biomonitoring organism for metal contamination than mussels and can be used in the monitoring and management of coastal environments and ecosystems.


Subject(s)
Crassostrea , Metals, Heavy , Mytilus edulis , Water Pollutants, Chemical , Animals , Ecosystem , Environmental Monitoring , Metals, Heavy/analysis , Water Pollutants, Chemical/analysis , Zinc/analysis
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