Effect of storage duration on outcome of patients receiving red blood cell in emergency department.

The effect of the duration of red blood cell (RBC) storage on the outcomes of transfused patients remains controversial, and studies on patients in the emergency department (ED) are limited. This study aimed to determine the association between RBC storage duration and outcomes of patients receiving transfusions in the ED. For RBCs issued to patients in the ED between 2017 and 2022, the storage period of the RBC and data on the transfused patient were obtained.

Poor Mobilization-Associated Factors in Autologous Hematopoietic Stem Cell Harvest.

Peripheral blood stem cell transplantation (PBSCT) is an important therapeutic measure for both hematologic and non-hematologic diseases. For PBSCT to be successful, sufficient CD34 cells need to be mobilized and harvested. Although risk factors associated with poor mobilization in patients with hematologic diseases have been reported, studies of patients with non-hematologic diseases and those receiving plerixafor are rare.

Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity.

Anti-tuberculosis (AT) medications, including isoniazid (INH), can cause drug-induced liver injury (DILI), but the underlying mechanism remains unclear. In this study, we aimed to identify genetic factors that may increase the susceptibility of individuals to AT-DILI and to examine genetic interactions that may lead to isoniazid (INH)-induced hepatotoxicity. We performed a targeted sequencing analysis of 380 pharmacogenes in a discovery cohort of 112 patients (35 AT-DILI patients and 77 controls) receiving AT treatment for active tuberculosis.

Evaluating the TaqMan Jr-Genotyping Method for Rapidly Predicting the Presence of Anti-Jr Antibodies.

Background: The Jr antigen is a high-prevalence red blood cell (RBC) antigen. Reports on cases of fatal hemolytic disease of the fetus and newborn and acute hemolytic transfusion reactions suggest that antibodies against Jr (anti-Jr) have potential clinical significance. Identifying anti-Jr is challenging owing to a lack of commercially available antisera.

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases.

ABO antigen weakness is rarely observed in ABO typing for transfusion. Hematologic diseases and associated gene mutations have been suggested as potential causes of this phenomenon, yet the precise etiology has not been elucidated. Through ABO typing and genetic analysis data conducted over 7 years, we have reconfirmed the association between ABO antigen weakness and hematologic diseases, especially acute myeloid leukemia (odds ratio [OR], 2.

Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.

Objective: We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and subgroups.

Methods: Patients with unexplained pediatric-onset epilepsy were identified from the in-house Severance Neurodevelopmental Disorders and Epilepsy Database. All patients underwent either exome sequencing or multigene panels from January 2017 to December 2019, at Severance Children's Hospital in Korea.

Investigation of blood group genotype prevalence in Korean population using large genomic databases.

Blood group antigens, which are prominently expressed in red blood cells, are important in transfusion medicine. The advent of high-throughput genome sequencing technology has facilitated the prediction of blood group antigen phenotypes based on genomic data. In this study, we analyzed data from a large Korean population to provide an updated prevalence of blood group antigen phenotypes, including rare ones.

Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.

[This corrects the article DOI: 10.3389/fimmu.2023.

Genotypes and phenotypes of encephalopathy.

Background: Variants in the dynamin-1 () gene typically cause synaptopathy, leading to developmental and epileptic encephalopathy (DEE). We aimed to determine the genotypic and phenotypic spectrum of encephalopathy beyond DEE.

Methods: Electroclinical phenotyping and genotyping of patients with a variant were conducted for patients undergoing next-generation sequencing at our centre, followed by a systematic review.

Predictive indicators for determining red blood cell transfusion strategies in the emergency department.

Background And Importance: Appropriate decision-making is critical for transfusions to prevent unnecessary adverse outcomes; however, transfusion in the emergency department (ED) can only be decided based on sparse evidence in a limited time window.

Objectives: This study aimed to identify factors associated with appropriate red blood cell (RBC) transfusion in the ED by analyzing retrospective data of patients who received transfusions at a single center.

Outcome Measures And Analysis: This study analyzed associations between transfusion appropriateness and sex, age, initial vital signs, an ED triage score [the Korean Triage and Acuity Scale (KTAS)], the length of stay, and the hemoglobin (Hb) concentration.

In vitro erythrocyte production using human-induced pluripotent stem cells: determining the best hematopoietic stem cell sources.

Background: Blood transfusion is an essential part of medicine. However, many countries have been facing a national blood crisis. To address this ongoing blood shortage issue, there have been efforts to generate red blood cells (RBCs) in vitro, especially from human-induced pluripotent stem cells (hiPSCs).

Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.

Growing evidence indicates that early and late postzygotic mosaicism can cause neurodevelopmental disorders (NDDs), but detection of low variant allele frequency (VAF) mosaic variants from blood remains a challenge. Data of 2162 patients with NDDs who underwent conventional genetic tests were reviewed and a deep sequencing was performed using a specifically designed mosaic next-generation sequencing (NGS) panel in the patients with negative genetic test results. Forty-four patents with neurocutaneous syndrome, malformation of cortical development, or nonlesional epileptic encephalopathies were included.

Analysis of trio test in neurodevelopmental disorders.

Background: Trio test has been widely used for diagnosis of various hereditary disorders. We aimed to investigate the contribution of trio test in genetically diagnosing neurodevelopmental disorders (NDD).

Methods: We retrospectively reviewed 2,059 NDD cases with genetic test results.

Incidence and characteristics of hypotensive transfusion reaction: 10-year experience in a single center.

Background: Hypotensive transfusion reaction (HyTR) is rare. It is characterized by a rapid onset of hypotension during transfusion, which usually resolves quickly upon cessation of transfusion. Information on the incidence and clinical characteristics of HyTR has been reported in only a few studies.

Cancer-initiating cells in human pancreatic cancer organoids are maintained by interactions with endothelial cells.

Pancreatic ductal adenocarcinoma (PDAC) shows poor prognosis and high malignancy due to the presence of cancer-initiating cells (CICs) and characteristics of the tumor microenvironment (TME). Organoids are useful for studying PDAC, and establishing organoids is dependent on stem cell growth factors, including Wnt signaling. Herein, using a conventional organoid culture system, we demonstrated that CD44(+)CD24(+) and CD44(+)CD24(+)EpCAM(+) CICs were enriched >65% in a PDAC patient-derived organoid.

A High Alanine Aminotransferase/Aspartate Aminotransferase Ratio Determines Insulin Resistance and Metabolically Healthy/Unhealthy Obesity in a General Adult Population in Korea: The Korean National Health and Nutritional Examination Survey 2007-2010.

Aims: Early identification of individuals with insulin resistance (IR) and metabolically unhealthy state can help prevent various diseases and improve quality of life. In this study, we investigated a possible marker of IR and metabolic health status, alanine aminotransferase/aspartate aminotransferase (ALT/AST) ratio, and aimed to confirm its feasibility in a large population study.

Methods: A total of 16,371 adults from Korean National Health and Examination Survey were studied.

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Background: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate.

Methods: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software.

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Background And Purpose: The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A).

Methods: We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and classified them into mutation (pathogenic or likely pathogenic) and nonmutation groups based on American College of Medical Genetics and Genomics guidelines. We compared the efficacy of STP in reducing the seizure frequency between the two groups.