Immune environment of high-TIL breast cancer: triple negative and hormone receptor positive HER2 negative.

This study explores differences in immune cell (IC) composition and spatial distribution between triple-negative breast cancer (TNBC) and hormone receptor-positive, HER2-negative breast cancer (HR + HER2-BC) in high-TIL (≥60%) cases, focusing on PD-L1 status. Using multiplex immunofluorescence on resected tumor tissues from 18 TNBC and 14 HR + HER2-BC cases, we analyzed IC types (CD20, CD8, CD4, FOXP3) and their spatial interactions. TNBC showed a unique IC composition characterized by a higher proportion of CD8 + IC (stroma: 27% vs 17%, p < 0.

Tailoring the Structure-Property Relationship of Ring-Opened Metathesis Copolymers for CO-Selective Membranes.

In this work, we explore the use of ring-opening metathesis polymerization (ROMP) facilitated by a second-generation Grubbs catalyst (G2) for the development of advanced polymer membranes aimed at CO separation. By employing a novel copolymer blend incorporating 4,4'-oxidianiline (ODA), 1,6-hexanediamine (HDA), 1-adamantylamine (AA), and 3,6,9-trioxaundecylamine (TA), along with a CO-selective poly(ethylene glycol)/poly(propylene glycol) copolymer (Jeffamine2003) and polydimethylsiloxane (PDMS) units, we have synthesized membranes under ambient conditions with exceptional CO separation capabilities. The strategic inclusion of PDMS, up to a 20% composition within the PEG/PPG matrix, has resulted in copolymer membranes that not only surpass the 2008 upper limit for CO/N separation but also meet the commercial targets for CO/H separation.

Investigation of somatic mutation profiles and tumor evolution of primary oropharyngeal cancer and sequential lymph node metastases using multiregional whole-exome sequencing.

Lymph node (LN) metastasis is an important factor in determining the treatment and prognosis of oropharyngeal squamous cell carcinoma (OPSCC). Here, we compared the somatic mutational profiles and clonal evolution of primary and metastatic LNs using multiregion sequencing of human papilloma virus (HPV)-positive OPSCC and HPV-negative OPSCC. We performed high-depth whole-exome sequencing (200×) of 76 samples from 18 patients with OPSCC (10 HPV-positive and 8 HPV-negative), including 18 primary tumor samples, 40 metastatic LN samples, and 18 normal tissue samples.

Qualitative and Quantitative Magnetic Resonance Imaging Phenotypes May Predict CDKN2A/B Homozygous Deletion Status in Isocitrate Dehydrogenase-Mutant Astrocytomas: A Multicenter Study.

Objective: Cyclin-dependent kinase inhibitor (CDKN)2A/B homozygous deletion is a key molecular marker of isocitrate dehydrogenase (IDH)-mutant astrocytomas in the 2021 World Health Organization. We aimed to investigate whether qualitative and quantitative MRI parameters can predict CDKN2A/B homozygous deletion status in IDH-mutant astrocytomas.

Materials And Methods: Preoperative MRI data of 88 patients (mean age ± standard deviation, 42.

Teleworking Is Significantly Associated with Anxiety Symptoms and Sleep Disturbances among Paid Workers in the COVID-19 Era.

Due to social distancing during COVID-19, teleworking has spread in Korea. Accordingly, the effects of teleworking on physical and mental health have emerged. We aim to determine the association between teleworking and mental health, including anxiety symptoms and sleep disturbance, in paid workers.

Differences in stromal component of chordoma are associated with contrast enhancement in MRI and differential gene expression in RNA sequencing.

Chordoma is a malignant bone neoplasm demonstrating notochordal differentiation and it frequently involves axial skeleton. Most of chordomas are conventional type with varying amount of myxoid stroma. Previously known prognostic factors for conventional chordoma are not specific for chordoma: old age, metastasis, tumor extent, and respectability.

Association between physical risk factors and sleep disturbance among workers in Korea: The 5th Korean Working Conditions Survey.

Objective: Sleep disturbance is associated with negative effects to workers' health and productivity; hence, it is important to find which population of workers are associated with sleep disturbance. This study aimed to investigate the association between physical risk factors (vibration, noise, high, and low temperatures) and sleep disturbance in the Korean working population.

Methods: We analyzed data on 29,213 paid workers from the 5th Korean Working Conditions Survey.

Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea.

Background: Following success of the phase III PROfound trial, the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib was approved by the US Food and Drug Administration in May 2020 for adult patients with deleterious homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). As locally adopted multigene panel next-generation sequencing (NGS) assays for selecting PARP inhibitor candidates have not been thoroughly evaluated, we compared the analytical performance of the FoundationOne CDx (Foundation Medicine, Inc., Cambridge, MA, USA) (central laboratory) and other NGS assays (local laboratory) with samples from the PROfound trial in Korea.

Surface Modification of Matrimid 5218 Polyimide Membrane with Fluorine-Containing Diamines for Efficient Gas Separation.

Polyimide membranes have been widely investigated in gas separation applications due to their high separation abilities, excellent processability, relatively low cost, and stabilities. Unfortunately, it is extremely challenging to simultaneously achieve both improved gas permeability and selectivity due to the trade-off relationship in common polymer membranes. Diamine modification is a simple strategy to tune the separation performance of polyimide membranes, but an excessive loss in permeability is also generally observed.

A comparison of meta-analysis results with and without adjustment for the healthy worker effect: cancer mortality among workers in the semiconductor industry.

Objectives: This study compared the results of meta-analysis with and without adjustment for the healthy worker effect on the association between working in the semiconductor industry and cancer mortality.

Methods: Six studies that reported standardized mortality ratios (SMRs) for cancers were selected for meta-analysis. Using a random-effects model, the SMR results from each study were combined for all cancers and leukemias to estimate the summary SMRs (95% confidence interval, CI).

Atomic-Layer-Deposited SiO/SnO Nanolaminate Structure for Moisture and Hydrogen Gas Diffusion Barriers.

High-density SnO and SiO thin films were deposited via atomic layer deposition (ALD) at low temperatures (100 °C) using tetrakis(dimethylamino)tin(IV) (TDMASn) and di-isopropylaminosilane (DIPAS) as precursors and hydrogen peroxide (HO) and O plasma as reactants, respectively. The thin-film encapsulation (TFE) properties of SnO and SiO were demonstrated with thickness dependence measurements of the water vapor transmission rate (WVTR) evaluated at 50 °C and 90% relative humidity, and different TFE performance tendencies were observed between thermal and plasma ALD SnO. The film density, crystallinity, and pinholes formed in the SnO film appeared to be closely related to the diffusion barrier properties of the film.

Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers.

Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry. Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci.

Detection of fusion in cell-free DNA of a patient with advanced gastric cancer: A case report.

Background: Gastric cancer is the fifth most diagnosed cancer worldwide and the third most common cause of cancer-related death. In recent decades, increasing application of next-generation sequencing has enabled detection of molecular aberrations, including fusions. In cases where tissue is difficult to obtain, cell-free DNA (cfDNA) is used for detecting mutations to identify the molecular profile of cancer.

Cigarette or E-Cigarette Use as Strong Risk Factors for Heated Tobacco Product Use among Korean Adolescents.

Heated tobacco products (HTPs) were first introduced in Korea in June 2017. This study examined the prevalence of current HTP use among Korean adolescents and its association with conventional cigarette (CC) or electronic cigarette (EC) use. The study analyzed nationally representative data (the 2019 Korea Youth Risk Behavior Web-based Survey) from a sample of 57,303 Korean students from grades 7-12.

NPM1 as a potential therapeutic target for atypical teratoid/rhabdoid tumors.

Background: Atypical teratoid/rhabdoid tumors (AT/RTs) are highly malignant brain tumors with inactivation of the SMARCB1 gene, which play a critical role in genomic transcriptional control. In this study, we analyzed the genomic and transcriptomic profiles of human AT/RTs to discover new druggable targets.

Methods: Multiplanar sequencing analyses, including whole exome sequencing (WES), single nucleotide polymorphism (SNP) arrays, array comparative genomic hybridization (aCGH), and whole transcriptome sequencing (RNA-Seq), were performed on 4 AT/RT tissues.

DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.

Background: Targeted next-generation sequencing (NGS) is increasingly being adopted in clinical laboratories for genomic diagnostic tests.

Results: We developed a new computational method, DeviCNV, intended for the detection of exon-level copy number variants (CNVs) in targeted NGS data. DeviCNV builds linear regression models with bootstrapping for every probe to capture the relationship between read depth of an individual probe and the median of read depth values of all probes in the sample.

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Purpose: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this workflow in detecting causative genetic variants.

Materials And Methods: Ten patients in Group 1 were diagnosed clinically using biochemical assays only, and 10 newborns in Group 2 were diagnosed with suspected inherited metabolic disease (IMD) in NBS.

Prevalence of Attention-Deficit/Hyperactivity Disorder and its Comorbidity among Korean Children in a Community Population.

The aim of this study was to determine the prevalence of attention deficit hyperactivity disorders (ADHD) in children according to socio-demographic factors and the distribution of ADHD subtypes in a community in Korea. A screening survey using the Korean version of ADHD Rating Scale (K-ARS) was conducted between 2007 and 2008, and clinical interviews by a pediatric psychiatrist were performed for selected children between 2009 and 2010. A total of 49,573 elementary school students, between ages of 7 and 12, constituted the target population, among which 38,365 students (77.

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Background: Despite recent advances in the investigation of myeloproliferative neoplasms (MPN), the impact of genetic heterogeneity on its molecular pathogenesis has not been fully elucidated. Thus, in this study, we aim to characterize the genetic complexity in Korean patients with polycythemia vera (PV) and essential thrombocythemia (ET).

Methods: We conducted association studies using 84 single-nucleotide polymorphisms (SNPs) in 229 patients (96 with PV and 133 with ET) and 170 controls.

A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data.

Background: Mast cell leukemia (MCL) is the most aggressive form of systemic mastocytosis disorders. Owing to its rarity, neither pathogenesis nor standard treatment is established for this orphan disease. Hence, we tried to treat a patient with MCL based on the exome and transcriptome sequencing results of the patient's own DNA and RNA.

Genomic dynamics associated with malignant transformation in IDH1 mutated gliomas.

The genomic mechanism responsible for malignant transformation remains an open question for glioma researchers, where differing conclusions have been drawn based on diverse study conditions. Therefore, it is essential to secure direct evidence using longitudinal samples from the same patient. Moreover, malignant transformation of IDH1-mutated gliomas is of potential interest, as its genomic mechanism under influence of oncometabolite remains unclear, and even higher rate of malignant transformation was reported in IDH1-mutated low grade gliomas than in wild-type IDH1 tumors.