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.

Covalent Stabilization of the Iridium-Containing Oxyhydrides SrMnIrOH and SrMnIrOH.

Reaction between SrMnIrO and CaH or LiH yields the iridium-containing oxyhydride phases SrMnIrOH or SrMnIrOH, respectively. Analysis of Mn K-edge XANES data indicate the presence of Ir centers in these oxyhydride phases, whose low-spin d configuration is consistent with the "covalent stabilization" of the metastable oxyhydride phases, as seen previously in analogous ruthenium and rhodium containing materials. Neutron powder diffraction data indicate the hydride ions are located exclusively within the "equatorial" anion sites of SrMnIrOH.

Myofascial pain syndrome in small animal practice.

This capsule review is a discussion of myofascial pain syndrome in small animals. The history of myofascial pain syndrome is discussed as well as facts and theories behind the aetiology and treatment of this syndrome. Diagnostic techniques are both discussed and illustrated.

Disparities in lung cancer screening utilization at two health systems in the Southeastern USA.

Purpose: Low-dose computed tomography lung cancer screening is effective for reducing lung cancer mortality. It is critical to understand the lung cancer screening practices for screen-eligible individuals living in Alabama and Georgia where lung cancer is the leading cause of cancer death. High lung cancer incidence and mortality rates are attributed to high smoking rates among underserved, low income, and rural populations.