Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Perfusion Showdown: Comparison of Multiple MRI Perfusion Techniques in the Grading of Pediatric Brain Tumors.

Background And Purpose: There are multiple MRI perfusion techniques, with limited available literature comparing these techniques in the grading of pediatric brain tumors. For efficiency and limiting scan time, ideally only one MRI perfusion technique can be used in initial imaging. We compared DSC, DCE, and IVIM along with ADC from DWI for differentiating high versus low grade pediatric brain tumors.

Genetic interaction analysis of transcription factors and in the regulation of respiration and fluconazole susceptibility.

is the second most common cause of invasive candidiasis and is widely known to have reduced susceptibility to fluconazole relative to many other spp. Upc2A is a transcription factor that regulates ergosterol biosynthesis gene expression under conditions of sterol stress such as azole drug treatment or hypoxia. Through an microevolution experiment, we found that loss-of-function mutants of the ATF/CREB transcription factor suppresses the fluconazole hyper-susceptibility of the ∆ mutant.

Net Zero is not enough: ratcheting ambition for sustainable health systems through Reduce and Support.

Net Zero is the dominant framework for organising health system decarbonisation. Yet throughout Net Zero's rise to prominence, greenhouse gas emissions have remained on a dangerous trajectory. In this analysis, we synthesise strands of Net Zero critique from the climate policy literature, examine their implications for health systems and briefly present an alternative framework for decarbonisation.