Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution.

Given the presence of highly repetitive genomic regions such as subtelomeric regions, understanding human genomic evolution remains challenging. Recently, long-read sequencing technology has facilitated the identification of complex genetic variants, including structural variants (SVs), at the single-nucleotide level. Here, we resolved SVs and their underlying DNA damage-repair mechanisms in subtelomeric regions, which are among the most uncharted genomic regions.

Comparison of different group-level templates in gradient-based multimodal connectivity analysis.

The study of large-scale brain connectivity is increasingly adopting unsupervised approaches that derive low-dimensional spatial representations from high-dimensional connectomes, referred to as gradient analysis. When translating this approach to study interindividual variations in connectivity, one technical issue pertains to the selection of an appropriate group-level template to which individual gradients are aligned. Here, we compared different group-level template construction strategies using functional and structural connectome data from neurotypical controls and individuals with autism spectrum disorder (ASD) to identify between-group differences.

Optimizing prone CT use for suspected interstitial lung abnormalities.

Objectives: We investigated whether supine chest CT alone suffices for diagnosing ILAs, thereby reducing the need for prone chest CT.

Materials And Methods: Patients who underwent prone chest CT for suspected ILAs from January 2021 to July 2023, with matching supine CT within 1 year, were retrospectively evaluated. Five multinational thoracic radiologists independently rated ILA suspicion and fibrosis scores (1 to 5-point) and ILA extent (1-100%) using supine CT first, then combined supine-prone CT after a 1-month washout.

Single-cell RNA sequencing reveals transcriptional changes in circulating immune cells from patients with severe asthma induced by biologics.

Patients with severe eosinophilic asthma often require systemic medication, including corticosteroids and anti-type 2 (T2) cytokine biologics, to control the disease. While anti-IL5 and anti-IL4Rα antibodies suppress the effects of IL-4, IL-5 and IL-13, the molecular pathways modified by these biologics that are associated with clinical improvement remain unclear. Therefore, we aimed to describe the effects of T2-targeting biologics on the gene expression of blood immune cells.

Contrast-enhanced CT Lymphangiography for Various Central Lymphatic Disorders.

Lymphatic leakage, manifesting as chylothorax or chylous ascites, arises from traumatic or nontraumatic causes and poses severe risks such as malnutrition and increased infection susceptibility. Accurate diagnosis and an effective treatment strategy necessitate comprehensive lymphatic imaging. Conventional lymphangiography and dynamic contrast-enhanced MR lymphangiography (DCMRL) have been widely used and studied as effective lymphatic imaging methods.

Outcomes of the Together for Life Program in Community-Dwelling Older Adults Living Alone: A Pilot Study.

Purpose: The current study developed and tested selected effects of the Together for Life (TFL) program for community-dwelling older adults using an embedded mixed methods design.

Method: Nine community volunteers participated in the training program, and 14 people aged ≥65 years, living alone, enrolled in the study. Home visits were conducted by home health nurses every 2 weeks, supplemented by weekly home visits and phone counseling provided by volunteers, for a duration of 20 weeks.

Peritumoral Adipose Tissue Features Derived from [F]fluoro-2-deoxy-2-d-glucose Positron Emission Tomography/Computed Tomography as Predictors for Response to Neoadjuvant Chemotherapy in Breast Cancer Patients.

This study investigated whether the textural features of peritumoral adipose tissue (AT) on [F]fluoro-2-deoxy-2-d-glucose (FDG) positron emission tomography/computed tomography (PET/CT) can predict the pathological response to neoadjuvant chemotherapy (NAC) and progression-free survival (PFS) in breast cancer patients. We retrospectively enrolled 147 female breast cancer patients who underwent staging FDG PET/CT and completed NAC and underwent curative surgery. We extracted 10 first-order features, 6 gray-level co-occurrence matrix (GLCM) features, and 3 neighborhood gray-level difference matrix (NGLDM) features of peritumoral AT and evaluated the predictive value of those imaging features for pathological complete response (pCR) and PFS.

Diagnostic performance of radiologists in distinguishing post-COVID-19 residual abnormalities from interstitial lung abnormalities.

Objective: Distinguishing post-COVID-19 residual abnormalities from interstitial lung abnormalities (ILA) on CT can be challenging if clinical information is limited. This study aimed to evaluate the diagnostic performance of radiologists in distinguishing post-COVID-19 residual abnormalities from ILA.

Methods: This multi-reader, multi-case study included 60 age- and sex-matched subjects with chest CT scans.

Prediction of early clinical response to neoadjuvant chemotherapy in Triple-negative breast cancer: Incorporating Radiomics through breast MRI.

This study assessed pretreatment breast MRI coupled with machine learning for predicting early clinical responses to neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC), focusing on identifying non-responders. A retrospective analysis of 135 TNBC patients (107 responders, 28 non-responders) treated with NAC from January 2015 to October 2022 was conducted. Non-responders were defined according to RECIST guidelines.

Lung Cancer Staging Using Chest CT and FDG PET/CT Free-Text Reports: Comparison Among Three ChatGPT Large Language Models and Six Human Readers of Varying Experience.

Although radiology reports are commonly used for lung cancer staging, this task can be challenging given radiologists' variable reporting styles as well as reports' potentially ambiguous and/or incomplete staging-related information. The purpose of this study was to compare the performance of ChatGPT large language models (LLMs) and human readers of varying experience in lung cancer staging using chest CT and FDG PET/CT free-text reports. This retrospective study included 700 patients (mean age, 73.

Multimodal analysis of disease onset in Alzheimer's disease using Connectome, Molecular, and genetics data.

Alzheimer's disease (AD) and its related age at onset (AAO) are highly heterogeneous, due to the inherent complexity of the disease. They are affected by multiple factors, such as neuroimaging and genetic predisposition. Multimodal integration of various data types is necessary; however, it has been nontrivial due to the high dimensionality of each modality.

Reconsidering Neurogenetic Indication in the Human Brain: Broad Expression of Doublecortin Transcript in the Hippocampal and Cortical Cell Populations.

Introduction: Neurogenesis in the adult brain may play an important role in memory and cognition; however, knowledge of neurogenic markers in the human brain remains limited. We compared the single-nucleus transcriptome of the hippocampus with that of other cortical regions to identify hippocampus-specific neurogenic markers.

Methods: We analyzed 26,189 nuclei from four human brains collected within 16 h of death.

Minimal Access vs Conventional Nipple-Sparing Mastectomy.

Importance: While nipple-sparing mastectomy (NSM) for breast cancer was only performed using the open method in the past, its frequency using endoscopic and robotic surgical instruments has been increasing rapidly. However, there are limited studies regarding postoperative complications and the benefits and drawbacks of minimal access NSM (M-NSM) compared with conventional NSM (C-NSM).

Objective: To examine the differences in postoperative complications between C-NSM and M-NSM.

Validation of the Utility of the Genetically Shared Regions of Chromosomes (GD-ICS) Measuring Method in Identifying Complicated Genetic Relatedness.

Background: Relatives share more genomic regions than unrelated individuals, with closer relatives sharing more regions. This concept, paired with the increased availability of high-throughput single nucleotide polymorphism (SNP) genotyping technologies, has made it feasible to measure the shared chromosomal regions between individuals to assess their level of relation to each other. However, such techniques have remained in the conceptual rather than practical stages in terms of applying measures or indices.

Transcriptomic Expression of T2-Inflammation Genes in Peripheral Blood Mononuclear Cells and Longitudinal Clinical Outcomes in Asthma: Insights from the COREA Study.

Background: Gene expression can provide distinct information compared to clinical biomarkers in the context of longitudinal clinical outcomes in asthma patients.

Objective: This study examined the association between the gene expression levels of upstream (IL-25, IL-33, and TSLP) and downstream cytokines (IL-5, IL-4, and IL-13) in the T2 inflammatory pathway with a 12-month follow-up of exacerbation, lung function, and steroid use.

Methods: Transcriptomic sequencing analysis was performed on peripheral blood mononuclear cells from 279 adult asthmatics.

Selecting serum-free hepatocyte cryopreservation stage and storage temperature for the application of an "off-the-shelf" bioartificial liver system.

The bioartificial liver (BAL) system can potentially rescue acute liver failure (ALF) patients by providing partial liver function until a suitable donor liver can be found or the native liver has self-regenerated. In this study, we established a suitable cryopreservation process for the development of an off-the-shelf BAL system. The viability of hepatocyte spheroids cryopreserved in liquid nitrogen was comparable to that of fresh primary hepatocyte spheroids.

Modulating monocyte-derived macrophage polarization in cerebral ischemic injury with hyperglycemia.

Ischemic stroke (IS), characterized by high mortality rate, occurs owing to diminished or blocked blood flow to the brain. Hyperglycemia (HG) is a major contributor to the risk of IS. HG induces augmented oxidative stress and Blood-Brain Barrier breakdown, which increases the influx of blood-derived myeloid cells into the brain parenchyma.

Ischemic stroke outcome after promoting CD4+CD25+ Treg cell migration through CCR4 overexpression in a tMCAO animal model.

The importance of neuroinflammation during the ischemic stroke has been extensively studied. The role of CD4+CD25+ regulatory T (Treg) cells during the recovery phase have shown infarct size reduction and functional improvement, possibly through the mitigation of inflammatory immune responses. We aimed to investigate the molecular factors involved in microglia-Treg cell communication that result in Treg trafficking.

Clinical and Imaging Characteristics of SARS-CoV-2 Breakthrough Infection in Hospitalized Immunocompromised Patients.

Objective: To evaluate the clinical and imaging characteristics of SARS-CoV-2 breakthrough infection in hospitalized immunocompromised patients in comparison with immunocompetent patients.

Materials And Methods: This retrospective study analyzed consecutive adult patients hospitalized for COVID-19 who received at least one dose of the SARS-CoV-2 vaccine at two academic medical centers between June 2021 and December 2022. Immunocompromised patients (with active solid organ cancer, active hematologic cancer, active immune-mediated inflammatory disease, status post solid organ transplantation, or acquired immune deficiency syndrome) were compared with immunocompetent patients.

Blood transcriptome differentiates clinical clusters for asthma.

Background: In previous studies, several asthma phenotypes were identified using clinical and demographic parameters. Transcriptional phenotypes were mainly identified using sputum and bronchial cells.

Objective: We aimed to investigate asthma phenotypes via clustering analysis using clinical variables and compare the transcription levels among clusters using gene expression profiling of the blood.