Basic Science and Pathogenesis.

Background: The Genome Center for Alzheimer's Disease (GCAD) coordinates the integration and meta-analysis of all available Alzheimer's disease (AD) relevant whole genome sequencing (WGS) data to facilitate the goal of identifying AD risk or protective genetic variants and eventual therapeutic targets. The WGS datasets are generated via the collaboration of scientists from the Alzheimer's Disease Sequencing Project (ADSP) and GCAD. To minimize data heterogeneity introduced by different sequencing protocols and machines, GCAD processes all samples using identical pipelines.

A Retrospective Case Review of Firework-Related Ocular Injuries in Malaysia.

Background: Fireworks are known to cause severe ocular injuries. This study was intended to examine the pattern and visual outcomes of firework-related severe eye injuries in Malaysia.  Methods: A retrospective review of fireworks-related eye injuries was conducted in Malaysia from 1 July 2022 to 30 June 2023.

TEAD3 and TEAD4 play overlapping role in bovine preimplantation development.

During mammalian preimplantation development, the transition from morula to blastocyst is a critical biological event. This process involves polarization and initial specification of lineages, regulated by various transcription factors that have been extensively studied in mice. Our single-cell RNA sequencing analyses revealed that TEAD3 is specifically expressed in the trophectoderm cells of bovine preimplantation embryos, unlike in mice.

Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset.

The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's Disease and Related Dementias (AD/ADRD) by sequencing whole genomes of affected participants and age-matched cognitive controls from diverse populations. The Genome Center for Alzheimer's Disease (GCAD) processed whole-genome sequencing data from 36,361 ADSP participants, including 35,014 genetically unique participants of which 45% are from non-European ancestry, across 17 cohorts in 14 countries in this fourth release (R4). This sequencing effort identified 387 million bi-allelic variants, 42 million short insertions/deletions, and 2.

Open label vancomycin in primary sclerosing cholangitis-inflammatory bowel disease: improved colonic disease activity and associations with changes in host-microbiome-metabolomic signatures.

Background: We conducted a single-arm interventional study, to explore mucosal changes associated with clinical remission under oral vancomycin (OV) treatment, in primary sclerosing cholangitis associated inflammatory bowel disease (PSC-IBD); NCT05376228.

Method: Fifteen patients with PSC and active colitis (median faecal calprotectin 459µg/g; median total Mayo score 5) were treated with OV (125mg QID) for 4 weeks and followed-up for a further 4 weeks of treatment withdrawal (8 weeks, end-of-study). Colonic biopsies were obtained at baseline and week 4.