Reinterpretation of Conflicting ClinVar Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.

Background: The accurate interpretation of the /2 variant is critical for diagnosing and treating hereditary breast and ovarian cancers. ClinVar is a widely used public database for genetic variants. Conflicting classifications of pathogenicity can occur when different submitters categorize the same genetic variant inconsistently as pathogenic (PV), likely pathogenic (LPV), likely benign (LBV), benign (BV), or a variant of uncertain significance (VUS).

Late Parasitological Failure and Subsequent Isolated Gametocytemia of Uncomplicated Malaria in a Returned Traveler From Ghana, 2023.

Herein, we report a case of uncomplicated falciparum malaria with late parasitological failure in a 45-year-old businessman returning from Ghana. The patient visited the emergency department with high fever, headache, and dizziness. He traveled without antimalarial chemoprophylaxis.

Integration of an MC-80 Digital Image Analyzer With an Automated BC-6800Plus Hematology Analyzer Enables Accurate Platelet Counting in Samples With EDTA-Induced Pseudothrombocytopenia.

Background: EDTA-induced pseudothrombocytopenia (PTCP) during whole blood collection requires significant laboratory resources to obtain accurate results. We evaluated platelet-deaggregation function in EDTA-induced PTCP and platelet-clump flagging by the BC-6800Plus hematology analyzer using integrated digital image analysis.

Methods: We prospectively collected 132 whole blood samples suspected of platelet clumping (102 in EDTA and 30 in sodium citrate) from 88 individuals.

Issues, challenges, and future perspectives of genetic counseling in Republic of Korea: Perspectives of laboratory physicians based on a 2022 survey.

The field of genetic counseling (GC) in the Republic of Korea has evolved from a single medical doctor's clinic to a multidisciplinary service with medical geneticists and non-medical professionals working as a team. Here, we assessed the current status of GC in the Republic of Korea based on professional surveys from the perspective of laboratory physicians. An electronic survey was designed and conducted, with the respondents being 50 certified laboratory physicians who were members of the Korean Society for Genetic Diagnostics.

Evaluation of Group Genetic Counseling Sessions via a Metaverse-based Application.

Background: Group genetic counseling has been implemented to meet growing demand. A metaverse platform, in which a society is built and activities are carried out in the virtual world, has not yet been implemented in group genetic counseling. We investigated whether a metaverse platform could be an alternative service-delivery model for group genetic counseling.

A novel gene mutation causing Birt-Hogg-Dubé syndrome in a Korean family.

Spontaneous pneumothorax is a common manifestation of Birt-Hogg-Dubé (BHD) syndrome, an inherited disorder caused by mutation of the () gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumothorax. Chest CT showed multiple cysts with left lung pneumothorax, and she received surgery for the diagnosis.

Assay Sensitivity Difference Can Induce Anti-Hepatitis A Virus IgM Non-Reactive But Total (IgM and IgG) Reactive Results in Early Acute Hepatitis A.

Although anti-hepatitis A virus (HAV) IgM non-reactive and anti-HAV total (immunoglobulin [Ig] M and IgG) reactive results are generally interpreted as immunity to HAV, some early acute hepatitis A patients show the same results. We compared IgM detection sensitivity between anti-HAV IgM and anti-HAV total assays. Acute hepatitis A patients' samples were serially diluted and tested with Elecsys anti-HAV IgM and total assay (Roche Diagnostics).

Methylation of DNA Repair Genes as a Prognostic Biomarker in AML of a TCGA-LAML Cohort.

Background: Dysregulation of DNA damage response and altered DNA methylation in acute myeloid leukemia (AML) have been reported, but the impact of methylation of DNA repair genes has not yet been researched. We aimed to predict the prognosis of non-APL AML patients based on the known CpG site methylation levels of DNA repair genes through The Cancer Genome Atlas AML project (TCGA-LAML).

Methods: We utilized TCGA-LAML cohort (174 non-APL AML) for the methylation data of 22 DNA repair genes.

Analytical Performance Evaluation of Goldstream Fungus (1-3)-β-D Glucan.

Background: (1-3)-β-D-glucan (BDG) is a fast and simple assay to diagnose invasive fungal infection. In this study, we evaluated the performance of the Goldstream BDG assay (Beijing Gold Mountainriver Tech Development) performed on the automated analyzer, IGL-200 (Genobio Pharmaceutical).

Methods: The precision and linearity of the Goldstream BDG assay were evaluated according to Clinical and Laboratory Standards Institute procedures.

Germline pathogenic variants in unselected Korean men with prostate cancer.

Purpose: Prostate cancer is one of the most heritable cancers and prostate cancer with germline mutations is associated with aggressive features and a poor prognosis. We investigated germline variants in unselected Korean men with prostate cancer.

Materials And Methods: In this study, we prospectively collected buccal swab DNA from 120 unselected Korean men with prostate cancer, and performed massively parallel sequencing.

Comprehensive DNA repair gene expression analysis and its prognostic significance in acute myeloid leukemia.

Background: Deficiency in DNA damage response (DDR) pathway and accumulation of DNA damage increases mutation rates resulting in genomic instability and eventually increases the risk of cancer. The aim of our study was to investigate expressions of DNA repair genes as new prognostic biomarkers in acute myeloid leukemia (AML).

Methods: We utilized The Cancer Genome Atlas AML project (TCGA-LAML cohort, 15 acute promyelocytic leukemia (APL) and 155 non-APL AML) for the expression data of DNA repair genes.

Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with V617F, and Mutations: A Case Report and Brief Review of Literature.

Primary myelofibrosis (PMF) and paroxysmal nocturnal hemoglobinuria (PNH) are very rare diseases, respectively, and it is uncommon to have both diseases together. Mutational profiling using next-generation sequencing in PMF and PNH detected additional mutations associated with myeloid neoplasms, suggesting a step-wise clonal evolution. We present here a very rare case with PMF and PNH with V617F, and mutations at the time of diagnosis.

False-positive flag of WBC and change of mean platelet volume (MPV) caused by K3-EDTA on the DxH 900 hematology analyzer.

During the evaluation of the DxH 900 hematology analyzer (Beckman Coulter, Miami, FL), we noted that some patient samples produced a false positive white blood cell (WBC) flag, neutrophil blasts (NE-blast), despite the absence of abnormal cells. We investigated whether storage time or anticoagulants such as K2- or K3-ethylenediaminetetraacetic acid (EDTA) would affect complete blood count (CBC) tests on the DxH 900. Sixty-four whole blood samples were collected in K3-EDTA tubes, and 44 were simultaneously drawn in K2-EDTA tubes.

Peroxiredoxin 3 Has Important Roles on Arsenic Trioxide Induced Apoptosis in Human Acute Promyelocytic Leukemia Cell Line via Hyperoxidation of Mitochondrial Specific Reactive Oxygen Species.

NB4 cell, the human acute promyelocytic leukemia (APL) cell line, was treated with various concentrations of arsenic trioxide (ATO) to induce apoptosis, measured by staining with 7-amino-actinomycin D (7-AAD) by flow cytometry. 2', 7'-dichlorodihydro-fluorescein-diacetate (DCF-DA) and MitoSOX Red mitochondrial superoxide indicator were used to detect intracellular and mitochondrial reactive oxygen species (ROS). The steady-state level of SO (Cysteine sulfinic acid, Cys-SOH) form for peroxiredoxin 3 (PRX3) was measured by a western blot.

Sample size and rejection limits for detecting reagent lot variability: analysis of the applicability of the Clinical and Laboratory Standards Institute (CLSI) EP26-A protocol to real-world clinical chemistry data.

Objectives: To maintain the consistency of laboratory test results, between-reagent lot variation should be verified before using new reagent lots in clinical laboratory. Although the Clinical and Laboratory Standards Institute (CLSI) document EP26-A deals with this issue, evaluation of reagent lot-to-lot difference is challenging in reality. We aim to investigate a practical way for determining between-reagent lot variation using real-world data in clinical chemistry.

Thermography-Based Deterioration Detection in Concrete Bridge Girders Strengthened with Carbon Fiber-Reinforced Polymer.

In bridge structures worldwide, carbon fiber-reinforced polymer (CFRP) sheets are applied to strengthen weak components, especially concrete girders that are at a high risk of rapid degradation during the bridge's operation owing to impacts from the superstructure's weight and traffic loads. Regarding the thermography-based method (TM), although deteriorations in the concrete core are some of the main defects in concrete structures strengthened with CFRP, these do not receive as much attention as damage in the CFRP. Therefore, the interpretation of the structural health in terms of these defects using TM is still unclear.

Detection of Delamination with Various Width-to-depth Ratios in Concrete Bridge Deck Using Passive IRT: Limits and Applicability.

In bridge structures, concrete decks have a higher risk of damage than other components owing to the direct impact of traffic. This study aims to develop a comprehensive system for bridge inspection using passive infrared thermography (IRT). Experiments were conducted on a concrete specimen (assumed as the surface of the bridge deck) embedded artificial delaminations with different width-to-depth ratios (WTDRs).

Proposal of Efficient Workflows for Confirmatory Neutralization Test for Initial Hepatitis B Surface Antigen Positive Samples.

Background: Since more sensitive immunoassays have been introduced, false positive Hepatitis B surface antigen (HBsAg) results are increasing. This study was carried out to propose a process to reduce the burden of the laboratory while increasing positive predictive value in HBsAg.

Methods: Samples with Elecsys HBsAg II (Roche Diagnostics, Germany) between cutoff index (COI) 0.

Somatic mutation of HLA-DRB1*04:03 in a patient with myelodysplastic syndrome at diagnosis.

Loss or decrease in expression of human HLA caused by somatic mutations of HLA genes has been reported in various malignancies. However, mutations in the HLA-DR gene have been rarely noted in hematologic malignancies. Here, we report a case of myelodysplastic syndrome (MDS) with a novel point mutation in exon 2 of the HLA-DRB1*04:03 gene pertaining to a silent mutation (c.

Evaluation of Residual Compressive Strength and Behavior of Corrosion-Damaged Carbon Steel Tubular Members.

Local corrosion damage of steel structures can occur due to damage to the paint-coated surface of structures. Such damage can affect the structural behavior and performance of steel structures. Compressive loading tests were, thus, carried out in this study to examine the effect of local corrosion damage on the structural behavior and strength of tubular members.

The 2016 WHO versus 2008 WHO Criteria for the Diagnosis of Chronic Myelomonocytic Leukemia.

The 2016 WHO diagnostic criteria for chronic myelomonocytic leukemia (CMML) require both absolute and relative monocytosis (≥1×10⁹/L and ≥10% of white blood cell counts) in peripheral blood. Moreover, myeloproliferative neoplasm (MPN) features in bone marrow and/or MPN-associated mutations tend to support MPN with monocytosis rather than CMML. We assessed the impact of the 2016 WHO criteria on CMML diagnosis, compared with the 2008 WHO criteria, through a retrospective review of the medical records of 38 CMML patients diagnosed according to the 2008 WHO classification.

GATA1 Expression in BCR/ABL1-negative Myeloproliferative Neoplasms.

Background: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs).

Methods: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records.