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.

Correction: Development of the Bristol Rabbit Pain Scale (BRPS): A multidimensional composite pain scale specific to rabbits (Oryctolagus cuniculus).

[This corrects the article DOI: 10.1371/journal.pone.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are large multi-subunit protein complexes that maintain cellular protein homeostasis by clearing ubiquitin-tagged damaged, misfolded, or unnecessary proteins. In this study, we have identified PSMD11 as an additional proteasome gene in which pathogenic variation is associated with an NDD-causing proteasomopathy.

Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.

We report a 32-year-old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture, indicative of a prior insult in the affected twin. The co-twin was grossly normal.

Genomic Insights into Moderately Thermophilic Methanotrophs of the Genus .

Considering the increasing interest in understanding the biotic component of methane removal from our atmosphere, it becomes essential to study the physiological characteristics and genomic potential of methanotroph isolates, especially their traits allowing them to adapt to elevated growth temperatures. The genetic signatures of species have been detected in many terrestrial and aquatic ecosystems. A small set of representatives of this genus has been isolated and maintained in culture.

Spatial working memory in a disappearing object task is impaired in female but not male dogs with chronic osteoarthritis.

Chronic pain in humans is associated with impaired working memory but it is not known whether this is the case in long-lived companion animals, such as dogs, who are especially vulnerable to developing age-related chronic pain conditions. Pain-related impairment of cognitive function could have detrimental effects on an animal's ability to engage with its owners and environment or to respond to training or novel situations, which may in turn affect its quality of life. This study compared the performance of 20 dogs with chronic pain from osteoarthritis and 21 healthy control dogs in a disappearing object task of spatial working memory.

Complete genome sequences of (Norfolk) and (Norfolk) isolated from a landfill methane biofilter.

Here we report the complete genome sequence of two moderately thermophilic methanotrophs isolated from a landfill methane biofilter, (Norfolk) and (Norfolk).

Identifying Preoperative Predictors for 24-Hour Discharge After Elective Hip and Knee Arthroplasties.

Introduction The resumption of elective medical services post-pandemic has brought to the forefront the importance of outpatient arthroplasty services in promoting efficiency and mitigating hospital-acquired infections. This study aimed to identify preoperative factors that predict the success of outpatient lower limb arthroplasty surgeries. Methods Our investigation involved a retrospective review of 606 patients who underwent elective hip and knee arthroplasty.

Whole-cell studies of substrate and inhibitor specificity of isoprene monooxygenase and related enzymes.

Co-oxidation of a range of alkenes, dienes, and aromatic compounds by whole cells of the isoprene-degrading bacterium Rhodococcus sp. AD45 expressing isoprene monooxygenase was investigated, revealing a relatively broad substrate specificity for this soluble diiron centre monooxygenase. A range of 1-alkynes (C -C ) were tested as potential inhibitors.

Alcohols as inhibitors of ammonia oxidizing archaea and bacteria.

Ammonia oxidizers are key players in the global nitrogen cycle and are responsible for the oxidation of ammonia to nitrite, which is further oxidized to nitrate by other microorganisms. Their activity can lead to adverse effects on some human-impacted environments, including water pollution through leaching of nitrate and emissions of the greenhouse gas nitrous oxide (N2O). Ammonia monooxygenase (AMO) is the key enzyme in microbial ammonia oxidation and shared by all groups of aerobic ammonia oxidizers.

Do owner-reported changes in mobility reflect measures of activity, pain and degenerative joint disease in cats?

Objectives: The aim of this blinded, nested case-control study was to compare cats with and without early owner-reported mobility changes using subjective and objective outcome measures (owner-completed questionnaires, orthopaedic examination).

Methods: A total of 57 cats with and without early owner-reported signs of impaired mobility were allocated to the case (n = 30) and control (n = 27) groups, respectively. Participating owners completed one inclusion and two pre-visit questionnaires (Feline Musculoskeletal Pain Index, VetMetrica).

Mutation ∆K281 in MAPT causes Pick's disease.

Two siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of neocortex and some subcortical regions, including hippocampus, caudate/putamen and globus pallidus. The inclusions were argyrophilic with Bodian silver, but not with Gallyas-Braak silver.

Determining a cut-off point for intervention analgesia in rabbits using the Bristol Rabbit Pain Scale.

Background: The objective of this study was to determine the threshold of the Bristol Rabbit Pain Scale (BRPS) indicating the need for intervention analgesia.

Methods: Fourteen members of veterinary staff were recruited to rate rabbits (n = 71) in acute pain. Observers in group A (n = 7) were asked to score each rabbit using the BRPS, while observers in group B (n = 7) independently answered the question 'In your clinical capacity, do you think this animal requires analgesia?' with either 'Yes' or 'No'.

Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.

SRRM2-related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss-of-function variants in SRRM2. In order to understand the clinical spectrum of SRRM2-related neurodevelopmental disorder, we performed a retrospective exome data and clinical chart review at a single tertiary children's hospital, Children's Hospital of Philadelphia (CHOP). Among approximately 3100 clinical exome sequencing cases performed at CHOP, we identified three patients with SRRM2 loss-of-function pathogenic variants, in addition to one patient previously described in the literature.

Awareness and Use of Canine Quality of Life Assessment Tools in UK Veterinary Practice.

The use of formal canine quality of life (QOL) assessment tools in veterinary practice has been recommended. An online survey investigated awareness, use and barriers to use of these tools in the UK. An anonymous 24-question survey was advertised through veterinary groups and social media.

Analysis of Essential Isoprene Metabolic Pathway Proteins in sp. Strain WS11.

Isoprene monooxygenase (IsoMO, encoded by ) initiates the oxidation of the climate-active gas isoprene, with the genes and nearly always found adjacent to in extant and metagenome-derived isoprene degraders. The roles of and are uncertain, although each is essential to isoprene degradation. We report here the characterization of these proteins from two model isoprene degraders, sp.