The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.

IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6-minute walk test (6MWT) and other endpoints.MethodsEvaluations performed every 6 weeks included the 6-minute walk distance (6MWD), timed function tests (TFTs), and quantitative strength using hand-held myometry.ResultsBaseline age (≥7 years), 6MWD, and selected TFT performance are strong predictors of decline in ambulation (Δ6MWD) and time to 10% worsening in 6MWD. A baseline 6MWD of <350 meters was associated with greater functional decline, and loss of ambulation was only seen in those with baseline 6MWD <325 meters. Only 1 of 42 (2.3%) subjects able to stand from supine lost ambulation.ConclusionFindings confirm the clinical meaningfulness of the 6MWD as the most accepted primary clinical endpoint in ambulatory DMD trials

Register-based cumulative prevalence of Autism Spectrum Disorders during childhood and adolescence in Central Italy

Background: Studies have evaluated the prevalence of Autism Spectrum Disorders (ASD), focusing on different ages during childhood and adolescence. How cumulative prevalence increases before adulthood remains unclear.  Methods: We used data from the Autism Register of the Regional Reference Centre for Autism in L’Aquila, Central Italy, to retrieve information on individuals born in 2001–2012 with any of the inclusion diagnoses of ASD (DSM criteria) for the period 2001 to 2018. Cumulative prevalence on L’Aquila district population data was calculated as percentages for three-year age strata.  Results: All prevalence data were estimated at December 31st, 2018. The overall crude prevalence was 0.95% (352 cases over 36938 population). Cumulative prevalence was 1.19% among those born in 2001-2003 (15 to 17 years of follow up), 1.15% among those born in 2004-2006 (12 to 14 years of follow up), 1.04% among those born in 2007-2009 (9 to 11 years of follow up), 0.80% among those born in 2010-2012 (6 to 8 years of follow up), and 0.57% among those born in 2013-2015 (3 to 5 years of follow up). The proportion of ASD diagnoses until the age of 5 years, compared to the group diagnosed 6 to 8 years of age, showed a significant increasing trend over calendar time (53.6% for those born in 2001-2003, to 77.0% for those born in 2010-2012).  Conclusions: Cumulative prevalence by time period provides a better understanding of ASD occurrence than a point prevalence. We did not find any difference in frequency of diagnosis comparing age strata and year of birth, suggesting that frequencies of ASD diagnosis remained roughly constant from 2001 to 2015. Results show that cumulative prevalence of autism diagnosis does not substantially change over time; instead, diagnosis of ASD is more likely at earliest ages over time, although new cases of ASD are also detected at later ages.&nbsp

Effects of pre-hospital 12 lead electrocardiogram on processes of care and mortality in acute coronary syndrome : a linked cohort study from the Myocardial Ischaemia National Audit Project

OBJECTIVE: To describe patterns of prehospital ECG (PHECG) use and determine its association with processes and outcomes of care in patients with ST-elevation myocardial infarction (STEMI) and non-STEMI. METHODS: Population-based linked cohort study of a national myocardial infarction registry. RESULTS: 288 990 patients were admitted to hospitals via emergency medical services (EMS) between 1 January 2005 and 31 December 2009. PHECG use increased overall (51% vs 64%, adjusted OR (aOR) 2.17, 95% CI 2.12 to 2.22), and in STEMI (64% vs 79%, aOR 2.34, 95% CI 2.25 to 2.44). Patients who received PHECG were younger (71 years vs 74 years, P<0.0001); and less likely to be female (33.1% vs 40.3%, OR 0.87, 95% CI 0.86 to 0.89), or to have comorbidities than those who did not. For STEMI, reperfusion was more frequent in those having PHECG (83.5% vs 74.4%, p<0.0001). PHECG was associated with more primary percutaneous coronary intervention patients achieving call-to-balloon time <90 min (27.9% vs 21.4%, aOR 1.38, 95% CI 1.24 to 1.54) and more patients who received fibrinolytic therapy achieving door-to-needle time <30 min (90.6% vs 83.7%, aOR 2.13, 95% CI 1.91 to 2.38). Patients with PHECG exhibited significantly lower 30-day mortality rates than those who did not (7.4% vs 8.2%, aOR 0.94, 95% CI 0.91 to 0.96). CONCLUSIONS: Findings from this national MI registry demonstrate a survival advantage in STEMI and non-STEMI patients when PHECG was used

Register-based cumulative prevalence of Autism Spectrum Disorders during childhood and adolescence in Central Italy

Background: Studies have evaluated the prevalence of Autism Spectrum Disorders (ASD), focusing on different ages during childhood and adolescence. How cumulative prevalence increases before adulthood remains unclear. Methods: We used data from the Autism Register of the Regional Reference Centre for Autism in L'Aquila, Central Italy, to retrieve information on individuals born in 2001-2012 with any of the inclusion diagnoses of ASD (DSM criteria) for the period 2001 to 2018. Cumulative prevalence on L'Aquila district population data was calculated as percentages for three-year age strata. Results: All prevalence data were estimated at December 31st, 2018. The overall crude prevalence was 0.95% (352 cases over 36938 population). Cumulative prevalence was 1.19% among those born in 2001-2003 (15 to 17 years of follow up), 1.15% among those born in 2004-2006 (12 to 14 years of follow up), 1.04% among those born in 2007-2009 (9 to 11 years of follow up), 0.80% among those born in 2010-2012 (6 to 8 years of follow up), and 0.57% among those born in 2013-2015 (3 to 5 years of follow up). The proportion of ASD diagnoses until the age of 5 years, compared to the group diagnosed 6 to 8 years of age, showed a significant increasing trend over calendar time (53.6% for those born in 2001-2003, to 77.0% for those born in 2010-2012). Conclusions: Cumulative prevalence by time period provides a better understanding of ASD occurrence than a point prevalence. We did not find any difference in frequency of diagnosis comparing age strata and year of birth, suggesting that frequencies of ASD diagnosis remained roughly constant from 2001 to 2015. Results show that cumulative prevalence of autism diagnosis does not substantially change over time; instead, diagnosis of ASD is more likely at earliest ages over time, although new cases of ASD are also detected at later ages

Streptococcal necrotising fasciitis from diverse strains of Streptococcus pyogenes in tropical northern Australia: case series and comparison with the literature

BACKGROUND: Since the mid-1980's there has been a worldwide resurgence of severe disease from group A streptococcus (GAS), with clonal clusters implicated in Europe and the United States. However GAS associated sepsis and rheumatic fever have always remained at high levels in many less developed countries. In this context we aimed to study GAS necrotising fasciitis (NF) in a region where there are high background rates of GAS carriage and disease. METHODS: We describe the epidemiology, clinical and laboratory features of 14 consecutive cases of GAS NF treated over a seven year period from tropical northern Australia. RESULTS: Incidence rates of GAS NF in the Aboriginal population were up to five times those previously published from other countries. Clinical features were similar to those described elsewhere, with 7/14 (50%) bacteremic and 9/14 (64%) having associated streptococcal toxic shock syndrome. 11/14 (79%) had underlying chronic illnesses, including all four fatalities (29% mortality overall). Important laboratory differences from other series were that leukocytosis was absent in 9/14 (64%) but all had substantial lymphopenia. Sequence typing of the 14 NF-associated GAS isolates showed no clonality, with only one emm type 1 and two emm type 3 strains. CONCLUSIONS: While NF clusters can occur from a single emergent GAS clone, this was not evident in our tropical region, where high rates of NF parallel high overall rates of GAS infection from a wide diversity of strains. The specific virulence factors of GAS strains which do cause NF and the basis of the inadequate host response in those patients who develop NF on infection with these GAS require further elucidation

The influence of standards and clinical guidelines on prosthetic and orthotic service quality : a scoping review

OBJECTIVES: Standards and guidelines are an integral part of prosthetic and orthotic service delivery in the developed world underpinned by an assumption that they lead to improved services. Implementing them has a cost, however, and that cost needs to be justified, particularly in resource-limited environments. This scoping review thus asks the question, "What is the evidence of the impact of standards and guidelines on service delivery outcomes in prosthetics and orthotics?" MATERIALS AND METHODS: A structured search of three electronic databases (Medline, Scopus and Web of Science) followed by manual searching of title, abstract and full text, yielded 29 articles. RESULTS: Four categories of papers were identified: Descriptions and Commentaries (17 papers), Guideline Development (7), Guideline Testing (2) and Standards implementation (3). No articles were explicitly designed to assess the impact of standards and guidelines on service delivery outcomes in prosthetics and orthotics. DISCUSSION AND CONCLUSION: Studies tended to be commentaries on or descriptions of guideline development, testing or implementation of standards. The literature is not sufficiently well developed to warrant the cost and effort of a systematic review. Future primary research should seek to demonstrate whether and how guidelines and standards improve the outcomes for people that require prostheses, orthoses and other assistive devices. Implications for Rehabilitation International Standards and Clinical Guidelines are now an integral part of clinical service provision in prosthetics and orthotics in the developed world. Complying with standards and guidelines has a cost and, particularly in resource-limited environments, it should be possible to justify this in terms of the resulting benefits. This scoping review concludes that there have been no previous studies designed to directly quantify the effects of implementing standards and guidelines on service delivery