Machine learning unveils an immune-related DNA methylation profile in germline DNA from breast cancer patients.

Background: There is an unmet need for precise biomarkers for early non-invasive breast cancer detection. Here, we aimed to identify blood-based DNA methylation biomarkers that are associated with breast cancer.

Methods: DNA methylation profiling was performed for 524 Asian Chinese individuals, comprising 256 breast cancer patients and 268 age-matched healthy controls, using the Infinium MethylationEPIC array.

Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity.

We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.

Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.

Background: For the majority of individuals with early-onset or familial breast cancer referred for genetic testing, the genetic basis of their familial breast cancer remains unexplained. To identify novel germline variants associated with breast cancer predisposition, whole-exome sequencing (WES) was performed.

Methods: WES on 290 BRCA1/BRCA2-negative Singaporeans with early-onset breast cancer and/or a family history of breast cancer was done.

and testing for thiopurine therapy: A major tertiary hospital experience and lessons learned.

Variants in thiopurine methyltransferase () and nudix hydrolase 15 () are associated with an accumulation of cytotoxic metabolites leading to increased risk of drug-related toxicity with standard doses of thiopurine drugs. We established and genetic testing for clinical use and evaluated the utilization, service outcomes and potential value of multi-gene PGx testing for 210 patients that underwent pharmacogenetics (PGx) testing for thiopurine therapy with the aim to optimize service delivery for future prescribing. The test was most commonly ordered for Gastroenterology (40.

Missense variant in interleukin-6 signal transducer identified as susceptibility locus for rheumatoid arthritis in Chinese patients.

Objectives: This study aims to uncover variants of large effect size and allele frequency below 5% by sequencing all extant genes associated with rheumatoid arthritis (RA) in a homogeneous patient cohort.

Patients And Methods: This retrospective study was conducted between January 2001 and December 2017. We selected Chinese RA patients positive for anti-citrullinated peptide antibody (ACPA).

Awareness, Knowledge, Attitude, and Practice of Teledentistry among Dental Practitioners during COVID-19: A Systematic Review and Meta-Analysis.

: This systemic review aims to appraise and analyse the awareness, knowledge, attitude, and practice of teledentistry among dental practitioners during COVID-19. : This review was registered in the PROSPERO database (CRD42021283404). Cross-sectional articles on dental practitioners' perceptions towards teledentistry published between March 2020 and September 2021 were searched in ten online databases (PubMed, Google Scholar, Web of Science, ScienceDirect, Cochrane, EMBASE, SIGLE, EBSCO, LILACS, and Open Grey).

Non-Faradaic Promotion of Ethylene Hydrogenation under Oscillating Potentials.

The acceleration of Faradaic reactions by oscillating electric potentials has emerged as a viable tool to enhance electrocatalysis, but the non-Faradaic dynamic promotion of thermal catalytic processes remains to be proven. Here, we present experimental evidence showing that oscillating potentials are capable of enhancing the rate of ethylene hydrogenation despite no promotion effect being observed under static potentials. The non-Faradaic dynamic enhancement reaches up to 553% on a Pd/C electrode when cycling between -0.

Promoting heterogeneous catalysis beyond catalyst design.

Despite the indisputable success of conventional approaches to manipulate the performance of heterogeneous catalysts by tuning the composition and structure of active sites, future research on catalysis engineering will likely go beyond the catalyst itself. Recently, several auxiliary promotion methods, either promoting the activity of reagents or enabling optimized adsorbate-catalyst interactions, have been proven as viable strategies to enhance catalytic reactions. Those auxiliary promotion methods range from electric/magnetic fields and electric potentials to mechanic stress, significantly altering the properties of reagent molecules and/or the surface characteristics of nanostructured catalysts.

Non-invasive detection of actionable mutations in advanced non-small-cell lung cancer using targeted sequencing of circulating tumor DNA.

Objective: To evaluate the feasibility of detecting actionable gene mutations in circulating tumor DNA (ctDNA) in patients with advanced non-small-cell lung cancer (NSCLC) using targeted next-generation sequencing (NGS).

Materials And Methods: In total 50 plasma samples from patients newly diagnosed with advanced NSCLC or resistant to first-line tyrosine kinase inhibitors (TKIs) were subjected to deep sequencing on a seven-gene panel (BRAF, EGFR, ERBB2, KRAS, NRAS, PIK3CA, PTEN) incorporated with molecular barcodes to improve accuracy in variant detection. When possible, results were compared with those from matched tissue samples.

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.

Background: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene. Whole exome sequencing (WES) with clinical correlations can be useful in identifying genomic alterations for targeted therapy.

Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation.

Background: Genetic determinants of drug response remain stable throughout life and offer great promise to patient-tailored drug therapy. The adoption of pharmacogenetic (PGx) testing in patient care requires accurate, cost effective and rapid genotyping with clear guidance on the use of the results. Hence, we evaluated a 32 SNPs panel for implementing PGx testing in clinical laboratories.