First steps toward understanding the variability in acute pain service provision and the quality of pain relief in everyday practice across the United Kingdom.

BACKGROUND: Pain management for patients in hospital is a major problem. There is significant variation in care provision. Evidence is needed about the ways in which acute pain services are organized in order to understand whether these are linked to important differences in patient outcomes. The National Inpatient Pain Study group is a voluntary collaborative venture of inpatient pain specialists in the United Kingdom who are working toward establishing a national prospective database of service provision and activity. OBJECTIVES: The objectives of this article are (1) to describe current pain service provision and activity (2) to define and monitor the quality and side effects of the primary analgesic techniques, such as central neuraxial block or systemic analgesia, and identify variations in practice. METHODS: Phase 1: Surveys were conducted in two phases during 2010-2011. Information about the organization of services was collected from 121 centers via a live Website. Phase 2: The pilot clinical dataset was collected from 13 hospitals in 2011. RESULTS: Results indicated that staffing varied widely from one to nine nurses per hospital site. Twelve percent of hospitals did not routinely collect data. The main workload was orthopedic and general surgery based on data from 13 hospitals and 29,080 patients in 2011. Thirty-seven percent of patients reported a pain score of moderate to severe pain on the first assessment by the specialist pain team, and 21% reported severe pain. Nausea and vomiting was the most frequent adverse event reported. Sixty-nine major adverse events were logged, of which 64 documented respiratory depression (N = 29,080, 0.22%). CONCLUSIONS: Prospective longitudinal data has the potential to improve our understanding of variation in process and outcome measures and establish future research priorities.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.

We report on two cases (male twins), and a female sib terminated at 20 weeks, whose autopsy revealed features of spondylothoracic dysplasia (STD) and also a diaphragmatic hernia and preaxial polydactyly. We present the findings and review STD and the closely related spondylocostal dysostosis. On the basis of the discussion we suggest that our cases are possibly the first report of preaxial polydactyly in spondylothoracic dysplasia and that STD and spondylocostal dysostosis may be allelic.