Publications by authors named "Chia-Lin Hsu"

Objectives: Radial probe endobronchial ultrasound (rEBUS)-guided transbronchial biopsy (TBB) with a guide sheath (GS) is widely used to diagnose peripheral lung lesions (PPLs), but there is no consensus on whether it increases the diagnostic yield. We conducted this prospective study to compare the diagnostic yield of the GS method to the conventional method without a GS.

Methods: From November 2019 to March 2023, patients with PPLs were recruited and randomly assigned to rEBUS-TBB with a GS (GS group) or without a GS (conventional group).

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Idiopathic pulmonary fibrosis (IPF) has been associated with mitochondrial dysfunction. We investigated whether mitochondrial DNA variants in peripheral blood leukocytes (PBLs), which affect proteins of the respiratory chain and mitochondrial function, could be associated with an increased risk and poor prognosis of IPF. From 2020 to 2022, we recruited 36 patients (age: 75.

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Background: Inadequate tumour samples often hinder molecular testing in non-small cell lung cancer (NSCLC). Plasma-based cell-free DNA (cfDNA) sequencing has shown promise in bypassing these tissue limitations. Nevertheless, pleural effusion (PE) samples may offer a richer cfDNA source for mutation detection in patients with malignant PE.

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Leptomeningeal metastasis (LM) is a challenging complication of non-small cell lung cancer (NSCLC). Cerebrospinal fluid (CSF) cell-free DNA (cfDNA) analysis using next-generation sequencing (NGS) offers insights into resistance mechanisms and potential treatment strategies. We conducted a study from February 2022 to April 2023 involving patients from five hospitals in Taiwan who had recurrent or advanced NSCLC with LM.

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Background: PD-L1 is associated with poor efficacy of first- or second-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) in untreated EGFR-mutant non-small-cell lung cancer (NSCLC). Whether PD-L1 is also predictive of osimertinib efficacy in pre-treated patients with an acquired EGFR T790 M mutation is unclear.

Patients And Methods: PD-L1 expression and tumor microenvironments were evaluated in tumors from EGFR-mutant T790 M + NSCLC patients treated with osimertinib.

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  • This study investigated the genetic links between schizophrenia (SCZ) and bipolar disorder (BPD), focusing on how polygenic risks for these disorders relate to education and cognitive aging.
  • Analyzing data from over 106,000 participants, researchers found that certain genetic scores positively correlated with educational achievement, while others had a negative impact.
  • The findings indicate that SCZ and BPD have different genetic influences, affecting educational success and cognitive decline, suggesting that these disorders are not genetically the same.
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The Formosan pangolin () is an endemic animal of Taiwan. Due to their reduced population and behavior, very little is known about this enigmatic species. To unravel male pangolin reproduction, in the present study, we built a complete genomic database of the male Formosan pangolin reproductive tract and revealed highly expressing genes as well as critical signaling pathways and their associated biological processes in both the testis and the epididymis.

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  • This study focuses on the genetic factors contributing to vertigo, particularly in Asian populations, as previous research has mostly centered on Europeans.
  • Researchers conducted a large genome-wide association study and identified two significant genomic loci (DROSHA and ZNF91/LINC01224) linked to vertigo, with some findings consistent across different ancestries.
  • Individuals with certain genetic risk factors are 1.74 times more likely to experience vertigo, and the study proposes that these findings could help identify high-risk individuals and enhance understanding of vertigo's underlying mechanisms.
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Huntington's disease (HD) is a hereditary neurodegenerative disorder characterized by involuntary movements, cognitive deficits, and psychiatric symptoms. Currently, there is no cure, and only limited treatments are available to manage the symptoms and to slow down the disease's progression. The molecular and cellular mechanisms of HD's pathogenesis are complex, involving immune cell activation, altered protein turnover, and disturbance in brain energy homeostasis.

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Background: The effectiveness of using a spray nozzle to deliver lidocaine for superior topical airway anaesthesia during non-sedation flexible bronchoscopy (FB) remains a topic of uncertainty when compared with conventional methods.

Methods: Patients referred for FB were randomly assigned to receive topical lidocaine anaesthesia the bronchoscope's working channel (classical spray (CS) group) or through a washing pipe equipped with a spray nozzle (SN group). The primary outcome was cough rate, defined as the total number of coughs per minute.

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Introduction: According to current International Association for the Study of Lung Cancer guideline, physicians may first use plasma cell-free DNA (cfDNA) methods to identify epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI)-resistant mechanisms (liquid rebiopsy) for lung cancer. Tissue rebiopsy is recommended if the plasma result is negative. However, this approach has not been evaluated prospectively using next-generation sequencing (NGS).

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  • In Taiwan, a study called TALENT is examining the effectiveness of low-dose CT (LDCT) screening for lung cancer in never-smokers who have other risk factors, as nearly 60% of such patients are diagnosed at advanced stages.
  • The study involved 17 medical centers and included individuals aged 55-75 who met specific eligibility criteria, like having never smoked or having a very limited smoking history, and certain risk factors for lung cancer.
  • Preliminary results from a 1-year follow-up after the initial LDCT screenings were analyzed, focusing on the detection rates of lung cancer and using various statistical methods to evaluate the outcomes.
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  • Next-generation sequencing (NGS) of plasma cell-free DNA can detect driver mutations in advanced non-small cell lung cancer (NSCLC) and might enhance standard molecular evaluations, though its initial utility remains unclear.
  • A randomised study on 180 patients with suspected advanced NSCLC compared two groups: one receiving NGS results after tissue genotyping and the other receiving them sooner; results showed earlier NGS led to a shorter wait for treatment (20 days vs. 28 days).
  • The study found high agreement between liquid NGS and tissue testing, identifying mutations in nearly 43% of cases where tissue tests were negative.
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  • The immune synapse is a crucial structure for T cell activation, connecting T lymphocytes with antigen-presenting cells (APCs).
  • Research reveals that INPP5E, a protein associated with the sensory organelle called cilia, is concentrated at the immune synapse in Jurkat T-cells during specific types of T cell activation.
  • Silencing INPP5E hampers key signaling processes, affecting the proper function of TCR signaling and reducing the secretion of IL-2, an important immune response factor.
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Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights.

Methods: A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry.

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Background/aims: The implications of extracellular nicotinamide phosphoribosyltransferase (eNAMPT), a cancer metabokine, in colonic polyps remain uncertain.

Methods: A 2-year prospective cohort study of patients who underwent colonoscopy was conducted. Biochemical parameters and serum eNAMPT levels were analyzed at baseline and every 24 weeks postpolypectomy.

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Background: The T790M mutation is the major resistance mechanism to first- and second-generation TKIs in EGFR-mutant NSCLC. This study aimed to investigate the utility of droplet digital PCR (ddPCR) for detection of T790M in plasma circulating tumor DNA (ctDNA), and explore its impact on prognosis.

Methods: This prospective study enrolled 80 advanced lung adenocarcinoma patients treated with gefitinib, erlotinib, or afatinib for TKI-sensitizing mutations between 2015 and 2019.

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Huntington's disease (HD) is an autosomal dominant neurodegenerative disease, characterized by motor dysfunction and abnormal energy metabolism. Equilibrative nucleoside transporter 1 (ENT1) and ENT2 are the major nucleoside transporters in cellular plasma membrane of the brain. Yet, unlike ENT1 whose function has been better investigated in HD, the role of ENT2 in HD remains unclear.

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An increasing amount of evidence emphasizes the role of metabolic reprogramming in immune cells to fight infections. However, little is known about the regulation of metabolite transporters that facilitate and support metabolic demands. In this study, we found that the expression of equilibrative nucleoside transporter 3 (ENT3, encoded by solute carrier family 29 member 3, Slc29a3) is part of the innate immune response, which is rapidly upregulated upon pathogen invasion.

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  • Current intrathymic injection methods often lead to complications and have challenges in accessing the necessary equipment.
  • This study introduces a standardized intrathymic injection protocol that is minimally invasive and only requires basic tools.
  • It outlines how to locate injection sites for effective drug delivery and demonstrates the success of the procedure by using Indian ink in the injection solution.
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  • Tissue-resident macrophages play a crucial role in protecting the body from pathogens and maintaining organ health, particularly in the thymus where they have been shown to engulf dying cells.
  • The study identified two distinct populations of macrophages in the adult thymus based on their locations and gene expression profiles, with one population being of embryonic origin and the other arising from adult stem cells.
  • Aging influences these macrophages, with one population decreasing over time while the other increases, becoming the predominant type in older organisms.
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  • Mast cells are immune cells that protect body surfaces and use granules filled with substances like Heparin, which is important for their formation and function.
  • Research creating a genetic model of Heparin deficiency showed that it is critical for mast cell granule formation, as its absence resulted in fewer mast cells in certain body areas.
  • The study found that while Heparin-deficient mast cells responded poorly to some allergic reactions, they showed heightened responses in specific dermatitis models, indicating a complex role for Heparin beyond just blood clotting.
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Background: Cluster headache is a highly debilitating neurological disorder with considerable inter-ethnic differences. Genome-wide association studies (GWAS) recently identified replicable genomic loci for cluster headache in Europeans, but the genetic underpinnings for cluster headache in Asians remain unclear. The objective of this study is to investigate the genetic architecture and susceptibility loci of cluster headache in Han Chinese resided in Taiwan.

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To explore the complex genetic architecture of common diseases and traits, we conducted comprehensive PheWAS of ten diseases and 34 quantitative traits in the community-based Taiwan Biobank (TWB). We identified 995 significantly associated loci with 135 novel loci specific to Taiwanese population. Further analyses highlighted the genetic pleiotropy of loci related to complex disease and associated quantitative traits.

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