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.

Effects of resveratrol on aortic growth in patients with Marfan syndrome: a single-arm open-label multicentre trial.

Background: Resveratrol, a dietary supplement that intervenes in cellular metabolism, has been shown to reduce aortic growth rate in a mouse model of Marfan syndrome (MFS), a condition associated in humans with life-threatening aortic complications, often preceded by aortic dilatation. The primary objective of this study was to investigate the effects of resveratrol on aortic growth rate in patients with MFS .

Methods: In this investigator-initiated, single-arm open-label multicentre trial, we analysed resveratrol treatment in adults aged 18-50 years with MFS.

Leptin, ghrelin and high-molecular-weight adiponectin in relation to anxiety in older adults.

Background: Leptin and ghrelin have been linked to depressive symptoms in older adults. There is a large overlap between depression and anxiety in this group. It is unclear whether the same associations exist with anxiety.

Veterinary Services'use of the Global Burden of Animal Diseases to prioritise interventions, monitor impact and develop critical competencies.

Attracting and sustaining investment in Veterinary Services and animal health programmes from national government budgets, development aid and grants, and philanthropic donors requires economic rationale using relevant, reliable and validated analytical approaches. The complex interwoven relationships between animal health, livestock husbandry systems, national food security, global health security and environmental sustainability emphasise the importance of improving data governance and stewardship and applying economic analysis to understand animal disease burdens. These efforts should enable prioritised investment of limited resources and effective monitoring of the impact of programmes over time.

[Fatal epidermal necrosis due to methotrexate use].

A 53-year-old patient with known psoriasis presented with painful erosive plaques in existing psoriasis lesions, ulcerations in the mouth, and leukopenia. She used 10 mg of methotrexate daily without folic acid prophylaxis. During admission she developed pancytopenia, liver failure and acute kidney injury.