North Bristol NHS Trust

About: North Bristol NHS Trust is a healthcare organization based out in Bristol, United Kingdom. It is known for research contribution in the topics: Population & Medicine. The organization has 2204 authors who have published 2811 publications receiving 61110 citations.

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Abstract: Objective Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of their phenotype. Methods and results The first proband has a de novo balanced translocation t(2;7)(p25.1;q22) identified by karyotyping. Whole genome sequencing showed that the chromosome 7 breakpoint is situated within the SHFM1 locus on chromosome 7q21.3. This separates the DYNC1I1 exons recently identified as limb enhancers in mouse studies from their target genes, DLX5 and DLX6 . In the second family, X-linked recessive inheritance was suspected and exome sequencing was performed to search for a mutation in the affected proband and his uncle. No coding mutation was found within the SHFM2 locus at Xq26 or elsewhere in the exome, but a 106 kb deletion within the SHFM1 locus was detected through copy number analysis. Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted. Conclusions Exome sequencing identified a 106 kb deletion that narrows the SHFM1 critical region from 0.9 to 0.1 Mb and confirms a key role of DYNC1I1 exonic enhancers in normal limb formation in humans.

A Systematic Review of Patient-Reported Outcome Measures Used in Adult Burn Research.

Abstract: Patient-reported outcome measures (PROMs) are vital for evaluating patient needs and therapeutic progress. This review aimed to identify the PROMs used in adult burn care and establish their quality. Computerized bibliographic searches of Psychinfo, Social Sciences Citation Index, Cinahl, Psycharticles, AMED, Medline, and HAPI were used to find English-language articles using English-language PROMs from January 2001 to September 2016. Psychometric quality assessment of the PROMs was conducted. A total of 117 studies achieved the entry criteria and reported using 77 different PROMs (71 generic and 6 burn-specific). Overall, the psychometric quality of the PROMs was low; only 17 (13 generic and 4 burn-specific) had psychometric evidence appropriate to adults with burn injuries completing an English language version of the PROM. Although this review identified a number of generic and burn-specific PROMs that have some psychometric evidence with adult burn patients, research is still needed to further examine these preexisting measures and validate them in different languages. This will enable researchers and clinicians to better understand the potential impact of a burn injury on adults, and evaluate the effectiveness of therapeutic interventions.

Does family-centred neonatal discharge planning reduce healthcare usage? A before and after study in South West England

Abstract: Objective To implement parent-oriented discharge planning (Train-to-Home) for preterm infants in neonatal care. Design Before and after study, investigating the effects of the intervention during two 11-month periods before and after implementation. Setting Four local neonatal units (LNUs) in South West England. Participants Infants without major anomalies born at 27–33 weeks’ gestation admitted to participating units, and their parents. Train-to-Home intervention A family-centred discharge package to increase parents’ involvement and understanding of their baby9s needs, comprising a train graphic and supporting care pathways to facilitate parents’ understanding of their baby9s progress and physiological maturation, combined with improved estimation of the likely discharge date. Main outcome measures Perceived Maternal Parenting Self-Efficacy (PMP S-E) scores, infant length of stay (LOS) and healthcare utilisation for 8 weeks following discharge. Results Parents reported that the Train-to-Home improved understanding of their baby9s progress and their preparedness for discharge. Despite a lack of change in PMP S-E scores with the intervention, the number of post-discharge visits to emergency departments (EDs) fell from 31 to 20 (p Conclusions Despite the lack of measurable effect on the parental self-efficacy scores, the reduction in ED attendances and associated costs supports the potential value of this approach.