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These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.This Consensus Statement developed on behalf of the Network for Early Onset Cystic Kidney Disease provides guidance on counselling, diagnosing and monitoring children with autosomal dominant polycystic kidney disease based on current evidence and a multi-stakeholder discussion of ethical issues.

The provision of intensive care is a perplexing issue for clinicians and the public. Concerns about the apparent lack of beds and the appropriateness of the patients admitted are tempered by the high cost of providing this service. As part of a study commissioned by the UK Department of Health, we tested the hypothesis that there is excess mortality among patients who are refused admission to intensive-care units. All referrals to six intensive-care units with different numbers of beds were monitored during a 3-month period. Data on mortality 90 days after first referral were obtained from family physicians for all patients known to be alive at hospital discharge. We adjusted, where possible, for confounding, including for age, sex, appropriateness of referral, disease severity, surgery and emergency categories, and bed provision. We did multivariate analysis by multiple logistic regression to compare the adjusted 90-day mortality rates for patients who were refused admission and for those admitted. 480 patients were admitted and 165 were refused admission. 90 days after referral there had been 178 (37%) deaths among the admitted group and 75 (46%) among the refused group. After multivariate adjustment, 113 patients appropriately referred for intensive care but refused admission to their first-choice intensive-care unit had a relative risk of death of 1·6 (95% CI 1·0–2·5), compared with the group of appropriately admitted cases with medium APACHE II scores for disease severity. Age, the assessed need for treatment or monitoring interventions, and emergency status also contributed to differences in mortality among all referrals. Bed provision did not contribute significantly to excess mortality. Although this study is observational and case-mix adjustment is incomplete, we found a higher rate of attributable mortality in patients who were refused intensive care, particularly for emergency cases. We question whether the provision of more beds alone would be a solution and conclude that there is an urgent need for more appropriate admission and discharge criteria.

Our main outcome was to identify organizational characteristics that help to evaluate the differences between the intensive care mortality ratios adjusted by APACHE II. We incorporated the variation associated with the ranking of institutions simulating its random effects under a binomial distribution. A nationwide survey on structure, technology, and staffing resources available in Colombian intensive care units during 1997–1998 was conducted. We collected data on admissions from 20 randomly selected adult medical and surgical intensive care units. The mortality ratio from the 20 intensive care units ranged from 0.59 to 2.36; 80% of the intensive care units had a mortality ratio greater than 1. All four intensive care units with the lowest mortality ratio belonged to private institutions, while four of five institutions with the highest mortality belonged to the public sector. Intensive care units in private institutions also had fewer number of beds, lower median length of stay, lower occupancy rates, higher education training for specialists and nurses and fewer emergency nonelective surgical procedures. We successfully accounted for intensive care mortality baseline differences and random effects variations. There were substantial differences between intensive care units in institution type, bed availability, technology, staffing resources, and degree of training, which may have been associated with patient outcome. These results are of crucial importance to track, detect and assess future changes.

OBJECTIVE--To ascertain the annual incidence rate of insulin dependent diabetes diagnosed in children under the age of 15 years in the British Isles during 1988, and to compare the results with an earlier study carried out in 1973-4. DESIGN--Active monthly reporting of cases by consultant paediatricians, with additional input from diabetologists and all specialist diabetes nurses and health visitors. SETTING--British Isles (England, Wales, Scotland, Northern Ireland, Republic of Ireland) with a total population at risk of 11,819,000 children. PATIENTS--All children diagnosed under the age of 15 years with primary insulin dependent diabetes from 1 January to 31 December 1988 and resident in the British Isles at diagnosis. MAIN OUTCOME MEASURES--National incidence rate of insulin dependent diabetes; differences in incidence rates between regions and between three age groups: 4 and under, 5-9, and 10-14 year olds. RESULTS--1600 children (837 boys and 763 girls) had a confirmed diagnosis of insulin dependent diabetes, giving a national incidence rate of 13.5/100,000/year (95% confidence interval 12.9 to 14.2/100,000/year). This was considerably higher than the incidence rate of 7.7/100,000/year in children under the age of 16 years reported in the British Diabetic Association's study of 1973-4. The age-sex adjusted rates varied between regions, ranging from 6.8/100,000/year (Republic of Ireland) to 19.8/100,000/year (Scotland). There were considerable differences in the numbers of cases diagnosed each month, with the 10-14 year age group showing the most seasonal variation. A quarter of the children (404/1600) were under 5 years old. Case ascertainment was estimated as 90%. CONCLUSIONS--Insulin dependent diabetes in the British Isles does not seem to occur uniformly over time or geographical area. Even allowing for differences in ascertainment between the 1973-4 and 1988 studies, there seems to have been an increase in the incidence rate of insulin dependent diabetes in children under the age of 15 years during the 15 year time period. If diabetes is becoming more common in this age group, possibly by developing earlier in susceptible children, this would be a matter of considerable public health concern.

Background Research has shown that recruitment to trials is a process that stretches from identifying potentially eligible patients, through eligibility assessment, to obtaining informed consent. The length and complexity of this pathway means that many patients do not have the opportunity to consider participation. This article presents the development of a simple framework to document, understand and improve the process of trial recruitment. Methods Eight RCTs integrated a QuinteT Recruitment Intervention (QRI) into the main trial, feasibility or pilot study. Part of the QRI required mapping the patient recruitment pathway using trial-specific screening and recruitment logs. A content analysis compared the logs to identify aspects of the recruitment pathway and process that were useful in monitoring and improving recruitment. Findings were synthesised to develop an optimised simple framework that can be used in a wide range of RCTs. Results The eight trials recorded basic information about patients screened for trial participation and randomisation outcome. Three trials systematically recorded reasons why an individual was not enrolled in the trial, and further details why they were not eligible or approached, or declined randomisation. A framework to facilitate clearer recording of the recruitment process and reasons for non-participation was developed: SEAR – Screening, to identify potentially eligible trial participants; Eligibility, assessed against the trial protocol inclusion/exclusion criteria; Approach, the provision of oral and written information and invitation to participate in the trial, and Randomised or not, with the outcome of randomisation or treatment received. Conclusions The SEAR framework encourages the collection of information to identify recruitment obstacles and facilitate improvements to the recruitment process. SEAR can be adapted to monitor recruitment to most RCTs, but is likely to add most value in trials where recruitment problems are anticipated or evident. Further work to test it more widely is recommended.

The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n=49 during 2005-2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child's development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children's treatment.