Association of environmental, demographic and clinical parameters with physical activity in children with asthma.

Personal characteristics, unfavorable weather conditions and air pollution have been linked with reduced physical activity in children. However, among children with asthma the effects of these parameters remain unclear. This study objectively quantified the physical activity of children with asthma and evaluated its association with environmental, personal, and clinical parameters.

Microbial safety of black soldier fly larvae (Hermetia illucens) reared on food waste streams.

Black soldier fly larvae (BSFL) can valorise different organic matter and yield a product of high nutritional value. The lack of knowledge about the microbial safety of BSFL grown on different organic waste streams influences the commercialisation of BSFL as stockfeed ingredient. This study evaluates the microbial safety of BSFL grown on five different commercial food waste streams collected from two commercial production facilities.

Proteomic Profiling Reveals Alterations in Metabolic and Cellular Pathways in Severe Obesity and Following Metabolic Bariatric Surgery.

In this study, we investigated the impact of bariatric surgery on the adipose proteome to better understand the metabolic and cellular mechanisms underlying weight loss following the procedure. A total of 46 patients with severe obesity were included, with samples collected both before and after bariatric surgery. Additionally, 15 healthy, non-obese individuals who did not undergo surgery served as controls and were studied once.

Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.

High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, only half of which is explained. Previously, we performed germline exome sequencing on BRCA1 and BRCA2-negative HGSOC patients, revealing three proposed and 43 novel candidate genes enriched with rare loss-of-function variants. For validation, we undertook case-control analyses using genomic data from disease-free controls.

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants that are also predicted to alter splicing. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants that are also predicted to affect splicing by either SpliceAI or MaxEntScan.