Characteristics of Cancer in Subjects Carrying Lynch Syndrome-Associated Gene Variants in Taiwanese Population: A Hospital-Based Study in Taiwan.

Lynch syndrome (LS) is an autosomal dominant disorder characterized by increased risks of colorectal and endometrial cancers. LS is defined by pathogenic variants in mismatch repair (MMR) genes, including MLH1, MSH2, and MSH6. Data on the prevalence and associated cancer risks of LS in the Han Chinese population remain limited.

Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction.

Few studies have genetically screened variants related to familial hypercholesterolemia (FH) and investigated their survival impact in patients with coronary artery disease (CAD) and reduced left ventricular ejection fraction (EF). Patients with CAD and reduced EF (< 40%) were enrolled. Their genomic DNAs were sequenced for FH-related genes.

Nasal Mycology of Chronic Rhinosinusitis Revealed by Nanopore Sequencing.

Background: Nanopore sequencing (NS) is a third-generation sequencing technology capable of generating reads of long sequences. In this study, we used NS to investigate nasal mycology in patients with chronic rhinosinusitis (CRS).

Methods: Nasal cavities of 13 CRS patients were individually irrigated with 20 mL of distilled water.

AGR2 expression as a predictive biomarker for therapy response in esophageal squamous cell carcinoma.

Despite multidisciplinary therapy, the prognosis is poor for esophageal squamous cell carcinoma (ESCC). In the locally advanced stage, neoadjuvant chemoradiotherapy (nCRT) followed by surgery could provide survival benefits to some patients. Here, we aimed to identify for tumor therapy response a biomarker based on RNA sequencing.

Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study.

Background: Familial hypercholesterolemia (FH) is a common genetic disorder with markedly increased risk of coronary artery diseases (CAD), especially acute myocardial infarction (AMI). However, genetic tests for FH are not always necessary in the current diagnostic criteria of FH, which might lead to underestimation of the prevalence of FH and a lack of awareness of FH-associated CAD and AMI. We aimed to explore the prevalence of genetically defined FH in the hospital-based population and to determine the impact of FH risk variants on CAD and AMI.

Laboratory Surge Response to the COVID-19 Pandemic: An Incident Command System Approach.

The COVID-19 pandemic has reaffirmed the critical significance of effective diagnostics in outbreak response. In Taiwan, the COVID-19 wave in May 2021 led to a rapidly growing demand for SARS-CoV-2 diagnostic tests. To meet the challenge, an extensive system-wide emergency preparedness plan, hospital emergency incident command system (HEICS), was developed to deal with emergencies involving healthcare systems.

SARS-CoV-2 E484K Mutation Narrative Review: Epidemiology, Immune Escape, Clinical Implications, and Future Considerations.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spread rapidly over the world and claimed million lives. The virus evolves constantly, and a swarm of mutants is a now major concern globally. Distinct variants could have independently converged on same mutation, despite being detected in different geographic regions, which suggested it could confer an evolutionary advantage.

Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Background: Familial hypercholesterolemia (FH) has been associated with early coronary artery disease (CAD) and increased risk of atherosclerotic cardiovascular disease. However, the prevalence of FH and its long-term outcomes in a CAD-high-risk cohort, defined as patients with hypercholesteremia who underwent coronary angiography, remains unknown. Besides, studies regarding the impact of genetic variations in FH on long-term cardiovascular (CV) outcomes are scarce.

Chemoresponse of de novo Acute Myeloid Leukemia to "7+3" Induction can Be Predicted by c-Myc-facilitated Cytogenetics.

Identifying patients with acute myeloid leukemia (AML) who will probably respond to the "7 + 3" induction regimen remains an unsolved clinical challenge. This study aimed to identify whether c-Myc could facilitate cytogenetics to predict a "7 + 3" induction chemoresponse in AML. We stratified 75 untreated patients (24 and 51 from prospective and retrospective cohorts, respectively) with AML who completed "7 + 3" induction into groups with and without complete remission (CR).

Triple Selection Strategy for In Situ Labeling of Circulating Tumor Cells with High Purity and Viability toward Preclinical Personalized Drug Sensitivity Analysis.

Ex vivo culture of viable circulating tumor cells (CTCs) from individual patients has recently become an emerging liquid biopsy technology to investigate drug sensitivity and genomic analysis in cancer. However, it remains challenging to retrieve the CTCs with high viability and purity from cancer patients' blood using a rapid process. Here, a triple selection strategy that combines immunonegative enrichment, density gradient, and microfluidic-based size-exclusion methods is developed for in situ drug sensitivity testing.

Molecular profiling of thymoma with myasthenia gravis: Risk factors of developing myasthenia gravis in thymoma patients.

Objective: Thymoma is a rare epithelial tumor arising from the thymus in the anterior mediastinum. Nearly 50% of patients with thymoma develop myasthenia gravis, which is an indication of a poor long-term prognosis. Here, we identified specific and effective molecular markers for predicting in the development of myasthenia gravis patients with thymoma.

The homeobox transcription factor Irxl1 negatively regulates MyoD expression and myoblast differentiation.

Irxl1/Mkx (Iroquois homeobox-like 1/Mohawk) encodes a member of the TALE subfamily of homeodomain proteins. It is expressed in multiple mesoderm-derived tissues and has recently been shown to regulate tendon differentiation during mouse embryonic development. Previously we showed that knockdown of Irxl1 in zebrafish caused a deficit in neural crest cells which consequently resulted in deformation of craniofacial muscles and arch cartilages.

The zebrafish homeobox gene irxl1 is required for brain and pharyngeal arch morphogenesis.

Iroquois homeobox-like 1 (irxl1) is a novel member of the TALE superfamily of homeobox genes that is most closely related to the Iroquois class. We have identified the zebrafish irxl1 gene and characterized its structure. The protein contains a homeodomain that shares 100% sequence identity with other vertebrate orthologs.