Publications by authors named "Tzu-Pin Lu"

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  • A study explored whole-exome sequencing (WES) to better understand severe hypertriglyceridemia by identifying genes linked to high triglyceride levels through a genome-wide association study (GWAS).
  • The GWAS involved over 120,000 participants and found that the APOA5 locus on chromosome 11 has the strongest association with triglyceride levels, alongside other significant genes like BUD13, GCKR, and LPL.
  • WES conducted on 29 patients with extreme hypertriglyceridemia identified additional genes such as ALDH1A2 and APOC1, highlighting both known and novel genetic factors that may influence lipid metabolism and open up possibilities for new treatments.
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Background: Tumor spread through air spaces (STAS) has been recognized as a prognostic factor for several types of lung cancers. However, information regarding its clinical significance in pulmonary lymphoepithelial carcinoma is limited. Therefore, this study investigated effects of STAS on the clinical outcomes for patients with pulmonary lymphoepithelial carcinoma.

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Current genome-wide association studies (GWAS) for kidney function lack ancestral diversity, limiting the applicability to broader populations. The East-Asian population is especially under-represented, despite having the highest global burden of end-stage kidney disease. We conducted a meta-analysis of multiple GWASs (n = 244,952) on estimated glomerular filtration rate and a replication dataset (n = 27,058) from Taiwan and Japan.

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  • Genome-wide association studies have identified thousands of genetic variants linked to complex traits, but understanding their biological functions requires precise gene expression levels.
  • The PrediXcan algorithm helps predict these expression levels using single nucleotide polymorphisms, but its effectiveness for East Asian populations is uncertain due to a lack of diverse reference data.
  • To address this, researchers developed Predict Asian-Population (PredictAP) as a supplementary tool for PrediXcan, using allele frequency information to improve gene expression predictions for individuals of East Asian ancestry.
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Objective: The aim of this study was to evaluate the efficacy of different treatment intensities (TIs) in patients with nasopharyngeal carcinoma (NPC).

Methods: The study assessed newly diagnosed, non-metastatic NPC patients from the Taiwan Cancer Registry between 2010 and 2017. TIs were divided into four groups: TI1 [radiotherapy (RT) alone or induction chemotherapy (IC) followed by RT); TI2 (concurrent chemoradiotherapy (CRT) alone); TI3 (IC followed by CRT or CRT followed by adjuvant chemotherapy (AC)]; and TI4 (IC followed by CRT followed by AC).

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  • Current research is limited on how combined exposure to multiple pollutants affects epigenetics, specifically DNA methylation, in relation to cancer and chronic diseases.
  • The study discovered numerous DNA methylation probes linked to exposure to heavy metals and PAHs, revealing potential early markers for health risks.
  • Key findings included a correlation between hypomethylation of the AHRR gene and increased lung cancer risk, as well as significant interactions between specific SNPs and pollutant exposure, impacting disease progression.
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Background And Aims: Brugada syndrome (BrS) is an inherited arrhythmia with a higher disease prevalence and more lethal arrhythmic events in Asians than in Europeans. Genome-wide association studies (GWAS) have revealed its polygenic architecture mainly in European populations. The aim of this study was to identify novel BrS-associated loci and to compare allelic effects across ancestries.

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Large-scale cancer drug sensitivity data have become available for a collection of cancer cell lines, but only limited drug response data from patients are available. Bridging the gap in pharmacogenomics knowledge between and datasets remains challenging. In this study, we trained a deep learning model, Scaden-CA, for deconvoluting tumor data into proportions of cancer-type-specific cell lines.

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Background: Tourniquets (TQ) have been increasingly adopted in pre-hospital settings recently. This study examined the effectiveness and safety of applying TQ in the pre-hospital settings for civilian patients with traumatic vascular injuries to the extremities.

Materials And Methods: We systematically searched the Ovid Embase, PubMed, and Cochrane Central Register of Controlled Trials databases from their inception to June 2023.

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  • The study focuses on improving outcomes for sepsis patients by using the National Early Warning Score 2 (NEWS2) to measure treatment effectiveness in the emergency department (ED).
  • It evaluated how changes in NEWS2 scores during ED stay relate to overall hospital mortality rates among sepsis patients admitted between 1997 and 2020.
  • The findings suggest that a decrease in NEWS2 scores correlates with lower mortality risk, highlighting the importance of prompt and effective treatment in reducing sepsis-related deaths.
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Purpose: This study aims to raise awareness of the disparities in survival predictions among races in head and neck cancer (HNC) patients by developing and validating population-based prognostic models specifically tailored for Taiwanese and Asian populations.

Methods: A total of 49,137 patients diagnosed with HNCs were included from the Taiwan Cancer Registry (TCR). Six prognostic models, divided into three categories based on surgical status, were developed to predict both overall survival (OS) and cancer-specific survival using the registered demographic and clinicopathological characteristics in the Cox proportional hazards model.

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Purpose: The purpose of this study is to find essential risk factors associated with liver function (LF) deteriorations within fluctuating long-term LF and their time-varying effects in patients with hepatocellular carcinoma (HCC) receiving hepatic radiotherapy and to identify high-risk groups for adverse LF deteriorations and their changes over time in facilitating the prevention of hepatic decompensation and the improvement of survival.

Materials And Methods: A total of 133 HCC patients treated by hepatic radiotherapy were enrolled. A study design was conducted to convert posttreatment long-term LF with fluctuating levels over time to recurrent LF events using defined upgrades in a grading scale.

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  • Recent advancements in next generation sequencing (NGS) technology have made studying bacterial genomes in the environment more affordable and effective, allowing for the identification of previously unknown microbiome species.
  • An efficient NGS data analysis pipeline needs to combine various bioinformatics tools, which can be complex and resource-intensive, presenting challenges for biologists and clinicians.
  • Twnbiome, a public gut microbiome database developed from healthy Taiwanese subjects, provides an interactive and user-friendly platform for microbiota research, enabling easy data analysis and customizable results for users without a bioinformatics background.
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Polygenic risk score (PRS) is a quantity that aggregates the effects of variants across the genome and estimates an individual's genetic predisposition for a given trait. PRS analysis typically contains two input data sets: base data for effect size estimation and target data for individual-level prediction. Given the availability of large-scale base data, it becomes more common that the ancestral background of base and target data do not perfectly match.

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  • Breast cancer shows significant genetic variation, with existing research primarily focused on Caucasian populations, prompting a study in a Taiwanese cohort to broaden understanding.
  • A study analyzing 152,534 participants narrowed down to 2,496 cases and 9,984 controls conducted genome-wide association studies and polygenic risk score analyses encompassing four breast cancer subtypes.
  • The findings revealed 113 SNPs linked to breast cancer risk, including 50 novel variants, with strong correlations found between polygenic risk scores and the likelihood of developing breast cancer, especially for the luminal A subtype.
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  • Phosphaturic mesenchymal tumors (PMTs) are rare tumors linked to low phosphate levels in the body, primarily due to the secretion of fibroblast growth factor 23.
  • In a study of a larger PMT cohort, some tumors previously classified as "fusion-negative" were re-identified as fusion-positive with newly discovered genetic fusions, including FN1::ZACN.
  • The research also found that many fusion-negative PMTs exhibited overexpression of KL/α-Klotho, with notable genetic rearrangements, hinting at underlying mechanisms affecting KL regulation that merit further inquiry.
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Background: Radiotherapy (RT) following breast-conserving surgery (BCS) is mainly used to decrease the rate of ipsilateral breast tumor recurrence (IBTR) in women with breast ductal carcinoma in situ (DCIS). Recent studies have demonstrated that low-dose tamoxifen significantly reduces IBTR in breast DCIS. Here, we aim to determine whether the administration of low-dose tamoxifen is non-inferior to RT in preventing IBTR in patients with low-risk characteristics of breast DCIS.

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Periodic mammography and/or sonography examinations are conducted across numerous hospitals nationalwidely, especially for antedees with a positive mammography screening. Despite the regular practice, clinical efficacy of hospital-based breast cancer surveillance remains unclear. Specifically, the impact of surveillance interval upon survival and prognostic surrogates stratified by menopausal status, as well as malignant transition rate should be deciphered.

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  • Genotype imputation is important for understanding disease variants in Asian populations, which have been underrepresented in genetic studies compared to Caucasian populations.
  • A new web platform called Multi-ethnic Imputation System (MI-System) has been developed to facilitate easy genotype imputation for East-Asians, providing multiple established pipelines and a unique reference panel for Taiwanese-Chinese ancestry.
  • MI-System allows researchers to upload their data for imputation with minimal effort, contributing to faster research in Asian population genetics without needing extensive computational resources or bioinformatics expertise.
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  • The study investigates the outcomes of out-of-hospital cardiac arrest (OHCA) patients with end-stage kidney disease (ESKD) compared to those without ESKD, focusing on rates of return of spontaneous circulation (ROSC) during CPR.* -
  • Results showed that ESKD patients had significantly higher rates of "any" and "sustained" ROSC and exhibited lower potassium levels and milder acidosis than non-ESKD patients during resuscitation.* -
  • Findings suggest ESKD patients can achieve comparable hospital survival rates to non-ESKD patients, challenging existing beliefs that these patients are always at high risk for complications like hyperkalemia and acidosis.*
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  • The study compares uniportal and multiportal nonintubated thoracoscopic anatomical resection techniques for treating non-small cell lung cancer (NSCLC) to assess their short- and long-term outcomes.
  • A total of 490 patients were analyzed, revealing that the uniportal approach had advantages such as shorter surgery times, lower ICU admission rates, and shorter hospital stays.
  • While the uniportal group had fewer dissected lymph nodes, their oncological outcomes, including recurrence-free survival, remained similar to those of the multiportal group, indicating effective cancer treatment with potentially fewer complications.
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