Growth and rhGH use in children with congenital chronic kidney disease: a multicentric contemporary study.

Introduction: Growth retardation is common in children with chronic kidney disease (CKD) and reflects CKD severity. Recombinant human growth hormone (rhGH) treatment was approved for CKD in 1995. We describe here treatment patterns and growth outcomes in children with congenital CKD in three pediatric nephrology departments.

Challenges in blood fractionation for cancer liquid biopsy: how can microfluidics assist?

Liquid biopsy provides a minimally invasive approach to characterise the molecular and phenotypic characteristics of a patient's individual tumour by detecting evidence of cancerous change in readily available body fluids, usually the blood. When applied at multiple points during the disease journey, it can be used to monitor a patient's response to treatment and to personalise clinical management based on changes in disease burden and molecular findings. Traditional liquid biopsy approaches such as quantitative PCR, have tended to look at only a few biomarkers, and are aimed at early detection of disease or disease relapse using predefined markers.

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges have limited investigation.

The Body Knows Better: Sensorimotor signals reveal the interplay between implicit and explicit Sense of Agency in the human mind.

Sense of Agency (SoA) is the feeling of control over our actions. SoA has been suggested to arise from both implicit sensorimotor integration as well as higher-level decision processes. SoA is typically measured by collecting participants' subjective judgments, conflating both implicit and explicit processing.

snPATHO-seq, a versatile FFPE single-nucleus RNA sequencing method to unlock pathology archives.

Formalin-fixed paraffin-embedded (FFPE) samples are valuable but underutilized in single-cell omics research due to their low RNA quality. In this study, leveraging a recent advance in single-cell genomic technology, we introduce snPATHO-seq, a versatile method to derive high-quality single-nucleus transcriptomic data from FFPE samples. We benchmarked the performance of the snPATHO-seq workflow against existing 10x 3' and Flex assays designed for frozen or fresh samples and highlighted the consistency in snRNA-seq data produced by all workflows.