Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.

Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) can aid as their molecules span multiple kilobases and capture SVs in full.

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as Plaat3 deficiency in mice protects against diet-induced obesity. We identified seven patients from four unrelated consanguineous families, with homozygous loss-of-function variants in PLAAT3, who presented with a lipodystrophy syndrome with loss of fat varying from partial to generalized and associated with metabolic complications, as well as variable neurological features including demyelinating neuropathy and intellectual disability.

Learning experiences of final-year student midwives in labor wards: A qualitative exploratory study.

Introduction: Clinical placements are an integral part of midwifery education and are crucial for achieving professional competencies. Although students' experiences on placements have been shown to play a meaningful role in their learning, they have received scant attention in the literature. The aim of this paper is to describe the learning experiences of final-year student midwives in labor wards within the Brussels metropolitan region, Belgium.

Development of a sensory wheel and lexicon for chocolate.

Cocoa is one of the most important cultivated crops worldwide both in production and processing. But due to the change in weather conditions, pest and diseases, producers are looking into new bean varieties and alternatives (e.g.