13 research outputs found

    A randomised trial deploying a simulation to investigate the impact of hospital discharge letters on patient care in general practice

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    Objective To determine how the timing and length of hospital discharge letters impact on the number of ongoing patient problems identified by general practitioners (GPs). Trial design GPs were randomised into four groups. Each viewed a video monologue of an actor-patient as he might present to his GP following a hospital admission with 10 problems. GPs were provided with a medical record as well as a long or short discharge letter, which was available when the video was viewed or 1 week later. GPs indicated if they would prescribe, refer or order tests for the patient's problems. Methods Setting Primary care. Participants Practising Australian GPs. Intervention A short or long hospital discharge letter enumerating patient problems. Outcome measure Number of ongoing patient problems out of 10 identified for management by the GPs. Randomisation 1:1 randomisation. Blinding (masking) Single-blind. Results Numbers randomised 59 GPs. Recruitment GPs were recruited from a network of 102 GPs across Australia. Numbers analysed 59 GPs. Outcome GPs who received the long letter immediately were more satisfied with this information (p<0.001). Those who received the letter immediately identified significantly more health problems (p=0.001). GPs who received a short, delayed discharge letter were less satisfied than those who received a longer delayed letter (p=0.03); however, both groups who received the delayed letter identified a similar number of health problems. GPs who were older, who practised in an inner regional area or who offered more patient sessions per week identified fewer health problems (p values <0.01, <0.05 and <0.05, respectively). Harms Nil. Conclusions Receiving information during patient consultation, as well as GP characteristics, influences the number of patient problems addressed. Trial registration number ACTRN12614000403639

    Prevalence and architecture of de novo mutations in developmental disorders.

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    The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

    Day hospital versus out-patient care for psychiatric disorders

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    Obstacle, adventure and endurance competitions in challenging or remote settings are increasing in popularity. A literature search indicates a dearth of evidence-based research on the organisation of medical care for wilderness competitions. The organisation of medical care for each event is best tailored to specific race components, participant characteristics, geography, risk assessments, legal requirements, and the availability of both local and outside resources. Considering the health risks and logistical complexities inherent in these events, there is a compelling need for guiding principles that bridge the fields of wilderness medicine and sports medicine in providing a framework for the organisation of medical care delivery during wilderness and remote obstacle, adventure and endurance competitions. This narrative review, authored by experts in wilderness and operational medicine, provides such a framework. The primary goal is to assist organisers and medical providers in planning for sporting events in which participants are in situations or locations that exceed the capacity of local emergency medical services resources

    Day hospital versus admission for acute psychiatric disorders

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    BACKGROUND: Inpatient treatment is an expensive way of caring for people with acute psychiatric disorders. It has been proposed that many of those currently treated as inpatients could be cared for in acute psychiatric day hospitals. OBJECTIVES: To assess the effects of day hospital versus inpatient care for people with acute psychiatric disorders. SEARCH STRATEGY: We searched the Cochrane Controlled Trials Register (Cochrane Library, issue 4, 2000), MEDLINE (January 1966 to December 2000), EMBASE (1980 to December 2000), CINAHL (1982 to December 2000), PsycLIT (1966 to December 2000), and the reference lists of articles. We approached trialists to identify unpublished studies. SELECTION CRITERIA: Randomised controlled trials of day hospital versus inpatient care, for people with acute psychiatric disorders. Studies were ineligible if a majority of participants were under 18 or over 65, or had a primary diagnosis of substance abuse or organic brain disorder. DATA COLLECTION AND ANALYSIS: Data were extracted independently by two reviewers and cross-checked. Relative risks and 95% confidence intervals (CI) were calculated for dichotomous data. Weighted or standardised means were calculated for continuous data. Day hospital trials tend to present similar outcomes in slightly different formats, making it difficult to synthesise data. Individual patient data were therefore sought so that outcomes could be reanalysed in a common format. MAIN RESULTS: Nine trials (involving 1568 people) met the inclusion criteria. Individual patient data were obtained for four trials (involving 594 people). Combined data suggested that, at the most pessimistic estimate, day hospital treatment was feasible for 23% (n=2268, CI 21 to 25) of those currently admitted to inpatient care. Individual patient data from three trials showed no difference in number of days in hospital between day hospital patients and controls (n=465, 3 RCTs, WMD -0.38 days/month CI -1.32 to 0.55). However, compared to controls, people randomised to day hospital care spent significantly more days in day hospital care (n=265, 3 RCTs, WMD 2.34 days/month CI 1.97 to 2.70) and significantly fewer days in inpatient care (n=265, 3 RCTs, WMD -2.75 days/month CI -3.63 to -1.87). There was no significant difference in readmission rates between day hospital patients and controls (n=667, 5 RCTs, RR 0.91 CI 0.72 to 1.15). For patients judged suitable for day hospital care, individual patient data from three trials showed a significant time-treatment interaction, indicating a more rapid improvement in mental state (n=407, Chi-squared 9.66, p=0.002), but not social functioning (n=295, Chi-squared 0.006, p=0.941) amongst patients treated in the day hospital. Four of five trials found that day hospital care was cheaper than inpatient care (with cost reductions ranging from 20.9 to 36.9%). REVIEWER'S CONCLUSIONS: Caring for people in acute day hospitals can achieve substantial reductions in the numbers of people needing inpatient care, whilst improving patient outcome

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

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    The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

    Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

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    Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

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    Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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    The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article
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