Publications by authors named "R E Caswell"
Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFArticle Synopsis
- One million individuals in England and Wales face sexual violence annually, with only about 30,000 accessing supportive services through sexual assault referral centres.* -
- The study evaluated care pathways for survivors through a series of sub-studies, including interviews with service providers and survivors, and highlighted the effectiveness of psychosocial interventions for mental health issues like PTSD and depression.* -
- Findings suggested that while sexual assault referral centres provide high-quality care, certain groups, such as those facing domestic abuse and some ethnic minorities, are underrepresented, emphasizing the need for better inter-agency collaboration and support.*
Objectives: Most people who have experienced sexual violence (SV) will disclose the event(s) to someone. Key recipients of disclosure are those working in healthcare. Telling someone in healthcare about experiences of SV can be an important step in accessing necessary medical care and being signposted to other services.
View Article and Find Full Text PDFArticle Synopsis
- Researchers studied two siblings with inherited PD-1 deficiency who died from autoimmune issues, including autoimmune pneumonitis and type 1 diabetes (T1D).
- The current report focuses on two new siblings with neonatal-onset T1D linked to a specific mutation in the PD-L1 gene, resulting in a dysfunctional PD-L1 protein.
- Despite lacking functional PD-L1, the new siblings exhibited normal immune cell development, suggesting that while both PD-1 and PD-L1 are important for preventing early T1D, PD-L1 deficiency does not cause the same severe autoimmune dysregulation seen in PD-1 deficiency.