Haemodynamic stability of patients during haemodialysis (HD) sessions is of pivotal importance and accurate determination of dry weight remains a challenge. Little information is available about central venous and aortic pressure during dialysis. In this pilot study we used a
European journal of human genetics : EJHG, 23(2), 173-179 (2014-05-16)
Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field of pediatric neurodevelopmental disorders. In a previous study, a
Proceedings of the National Academy of Sciences of the United States of America, 111(51), 18261-18266 (2014-12-10)
The androgen receptor (AR) is a key driver of prostate cancer (PC), even in the state of castration-resistant PC (CRPC) and frequently even after treatment with second-line hormonal therapies such as abiraterone and enzalutamide. The persistence of AR activity via
KIF1A is a neuron-specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. Here, we report 11 heterozygous de novo
Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis, 34(7), 781-790 (2014-01-05)
In this study our aim was to evaluate the relationship between degree of fluid status and arterial stiffness measured by pulse wave velocity (PWV) in peritoneal dialysis (PD) patients. Fluid status was determined by different methods including fluid overload measured