Pop, Ana;Williams, Monique;Struys, Eduard A.;Monné, Magnus;Jansen, Erwin E. W.;De Grassi, Anna;Kanhai, Warsha A.;Scarcia, Pasquale;Ojeda, Matilde R. Fernandez;Porcelli, Vito;van Dooren, Silvy J. M.;Lennertz, Pascal;Nota, Benjamin;Abdenur, Jose E.;Coman, David;Das, Anibh Martin;El-Gharbawy, Areeg;Nuoffer, Jean-Marc;Polic, Branka;Santer, René;Weinhold, Natalie;Zuccarelli, Britton;Palmieri, Ferdinando;Palmieri, Luigi;Salomons, Gajja S. Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), ...
Addiction treatment providers' views about the disease model of addiction (DMA), and their contemporary views about the brain disease model of addiction (BDMA), remain an understudied area. We systematically reviewed treatment providers' attitudes ab...
Natural killer (NK) cells are a critical component in the innate immune response against disease. NK cell function is tightly regulated by specific cytokine and activation/inhibitory receptor signalling, leading to diverse effector responses. Like al...
Dexmedetomidine (DMET) is a sedative, analgesic and anxiolytic with minimum adverse respiratory effects. An LC-MS/MS bioanalytical method has been developed and validated to accurately measure DMET concentrations in samples of human plasma. The metho...
This diagnostic accuracy study describes the performance of 5 accelerated chest pain pathways, calculated with the new Beckman's Access high-sensitivity troponin I assay.High-sensitivity troponin I was measured with presentation and 2-hour blood samp...
People from culturally and linguistically diverse (CALD) backgrounds are over-represented in compulsory admissions to hospital but little is known about whether this also applies to community treatment orders (CTOs).We investigated any differences be...
Popadin, Konstantin;Peischl, Stephan;Garieri, Marco;Sailani, M. Reza;Letourneau, Audrey;Santoni, Federico;Lukowski, Samuel W.;Bazykin, Georgii A.;Nikolaev, Sergey;Meyer, Diogo;Excoffier, Laurent;Reymond, Alexandre;Antonarakis, Stylianos E. The majority of aneuploid fetuses are spontaneously miscarried. Nevertheless, some aneuploid individuals survive despite the strong genetic insult. Here, we investigate if the survival probability of aneuploid fetuses is affected by the genome-wide b...
Meiotic chromosome segregation in human oocytes is notoriously error-prone, especially with ageing. Such errors markedly reduce the reproductive chances of increasing numbers of women embarking on pregnancy later in life. However, understanding the b...
