Tau pathway-based gene analysis on PET identifies CLU and FYN in a Korean cohort.

Introduction: The influence of genetic variation on tau protein aggregation, a key factor in Alzheimer's disease (AD), remains not fully understood. We aimed to identify novel genes associated with brain tau deposition using pathway-based candidate gene association analysis in a Korean cohort.

Methods: We analyzed data for 146 older adults from the well-established Korean AD continuum cohort (Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease; KBASE).

A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint.

Despite its importance for regulating gene expression, nonsense-mediated mRNA decay (NMD) remains poorly understood. Here, we extend the findings of a previous landmark study that proposed several factors associated with NMD efficiency using matched genome and transcriptome data from The Cancer Genome Atlas Program (TCGA) by incorporating additional data including Genotype-Tissue Expression (GTEx), gnomAD, and metrics for mutational constraints. Factors affecting NMD efficiency are analyzed using an allele-specific expression (ASE)-based measure to reduce noise caused by random variations.

Clinical utility of circulating tumor DNA profiling in detecting targetable fusions in non-small cell lung cancer.

Introduction: Numerous studies have suggested high concordance between tissue and circulating tumor DNA (ctDNA) comprehensive genomic profiling (CGP) tests but only few of them focused on fusions. In addition, atypical breakpoints occasionally detected from DNA-based fusion detection make interpretation difficult, and their clinical significance remains unclear. This study evaluated the clinical utility of ctDNA CGP for fusion detection.

Targeting uridine diphosphate glucuronosyltransferase 1A1 in liver disease: Current research and future directions.

The current letter to the editor pertains to the manuscript entitled 'Uridine diphosphate glucuronosyltransferase 1A1 prevents the progression of liver injury'. Increased levels of uridine diphosphate glucuronosyltransferase 1A1 during liver injury could mitigate damage by reducing endoplasmic reticulum stress, oxidative stress, and dysregulated lipid metabolism, impeding hepatocyte apoptosis and necroptosis.

Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.

Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established. We aim to investigate the frequency of AluY in individuals with or without IRDs and to overcome common diagnostic pitfalls associated with AluY insertion.

The de-sulfinylation enzyme sulfiredoxin-1 attenuates hepatic stellate cell activation and liver fibrosis by modulating the PTPN12-NLRP3 axis.

Background Aims: Liver fibrosis is characterized by the progressive scarring of liver tissue. Oxidative stress is a critical causal factor of hepatic stellate cell (HSC) activation and the subsequent liver fibrogenesis, but the mechanism is not fully understood. Cysteine sulfinic acid (Cys-SO2H), a modification of reactive cysteine residues, is a unique form of oxidative response that alters the structure and function of proteins.

Taurolidine Irrigation Reduces Relapse and Recurrence of Hemodialysis Access Infection.

Background: Infection of hemodialysis access is a clinically important concern and can lead to increased morbidity and mortality among patients on hemodialysis. In this study, we aimed to determine whether using taurolidine as an irrigating antiseptic after drainage of pus or removal of infected tissue and graft during surgery decreases the relapse and recurrence of infection.

Methods: Between January 2016 and December 2023, 48 episodes in 38 patients hospitalized and treated for hemodialysis access infections were examined.

Predicting Lung Cancer in Korean Never-Smokers With Polygenic Risk Scores.

In the last few decades, genome-wide association studies (GWAS) with more than 10,000 subjects have identified several loci associated with lung cancer and these loci have been used to develop novel risk prediction tools for cancer. The present study aimed to establish a lung cancer prediction model for Korean never-smokers using polygenic risk scores (PRSs); PRSs were calculated using a pruning-thresholding-based approach based on 11 genome-wide significant single nucleotide polymorphisms (SNPs). Overall, the odds ratios tended to increase as PRSs were larger, with the odds ratio of the top 5% PRSs being 1.

The role of 2'-5'-oligoadenylate synthase-like protein (OASL1) in biliary and hepatotoxin-induced liver injury in mice.

Following an injury, the liver embarks on a process that drives the accumulation and reformation of the extracellular matrix, leading to hepatic fibrosis. Type I interferons (IFNs), including IFN-α and IFN-β, play a crucial role in averting chronic liver injury through the activation of IFN-stimulated genes (ISGs), which are instrumental in sculpting adaptive immunity. The role of 2'-5'-oligoadenylate synthase-like protein 1 (OASL1), an antiviral ISG, in the context of liver fibrosis remains to be elucidated.

Hepatocyte-Specific Casein Kinase 1 Epsilon Ablation Ameliorates Metabolic Dysfunction-Associated Steatohepatitis by Up-Regulating Tumor Necrosis Factor Receptor-Associated Factor 3 in Mice.

Casein kinase 1 epsilon (CK1ε), a member of the serine/threonine protein kinase family, phosphorylates a broad range of substrates. However, its role in the development of chronic liver diseases remains elusive. This study aimed to investigate the role of CK1ε in the development and progression of metabolic dysfunction-associated steatohepatitis (MASH).

Cholesin and GPR146 in Modulating Cholesterol Biosynthesis.

Background: Cholesterol homeostasis in the human body is a crucial process that involves a delicate balance between dietary cholesterol absorption in the intestine and de novo cholesterol synthesis in the liver. Both pathways contribute significantly to the overall pool of cholesterol in the body, influencing plasma cholesterol levels and impacting cardiovascular health. Elevated absorption of cholesterol in the intestines has a suppressive impact on the synthesis of cholesterol in the liver, serving to preserve cholesterol balance.

Evaluation of Droplet Digital PCR for the Detection of V600E in Fine-Needle Aspiration Specimens of Thyroid Nodules.

Background: Droplet digital (dd)PCR is a new-generation PCR technique with high precision and sensitivity; however, the positive and negative droplets are not always effectively separated because of the "rain" phenomenon. We aimed to develop a practical optimization and evaluation process for the ddPCR assay and to apply it to the detection of V600E in fine-needle aspiration (FNA) specimens of thyroid nodules, as an example.

Methods: We optimized seven ddPCR parameters that can affect "rain.

Staged angioplasty using a full-length balloon catheter to achieve maturation of arteriovenous fistulas.

Purpose: To evaluate the efficacy of staged full-length balloon-assisted maturation (BAM) for the maturation of arteriovenous fistulas (AVFs) on entire segmental veins, including stenosis, causing primary AVF failure.

Methods: This study included patients who underwent AVF surgery using an autogenous vein between February 2020 and June 2021 and received staged angioplasty with a full-length balloon catheter. To minimize balloon overlap and the risk of barotrauma to the immature vein, serial-staged upsizing balloon angioplasty with a long balloon catheter covering the entire vein segment was employed approximately 2 weeks apart.

Effects of public transportation use on non-exercise activity thermogenesis and health promotion: a mini-review.

Purpose: Public transportation (PT) systems significantly shape urban mobility and have garnered attention owing to their potential impact on public health, particularly the promotion of physical activity. Beyond their transportation functions, PT systems also affect daily energy expenditure through non-exercise activity thermogenesis (NEAT). This mini-review surveys the existing literature to explore the effects of PT use on NEAT levels and subsequent health outcomes.

Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations.

Triple-negative breast cancer (TNBC) patients are more likely to have BRCA1/2 mutations, with a prevalence rate of about 10-20%. Although several studies have analyzed the oncologic outcomes between BRCA1/2 carriers and non-carriers, the impact on breast cancer patients is still unclear. A retrospective review was performed to determine the long-term outcomes of TNBC patients, focusing on the impact of BRCA1/2 mutations.

Tongue patch angioplasty for small-caliber vein segments directly connected to juxta-anastomotic stenosis.

This study introduces a surgical method to increase the size of small vessels in patients with juxta-anastomosis stenosis (JAS) requiring full-length dissection. The small-caliber segment that is adjacent to JAS is usually expanded using balloon angioplasty or surgically resected. After resection, if the cannulation site is sufficient, only the arterial anastomosis is moved proximally; otherwise, it is replaced with a prosthetic graft.

Analysis of football research trends using text network analysis.

This study was aimed to identify football research trends in various periods. A total of 30,946 football papers were collected from a representative academic database and search engine, the 'Web of Science'. Keyword refinement included filtering nouns, establishing synonyms and thesaurus, and excluding conjunctions, and the Cyram's Netminer 4.