Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients

Keep the fire burning: A survey study on the role of personal resources for work engagement and burnout in medical residents and specialists in the Netherlands

Objectives The high prevalence of burnout among medical residents and specialists raises concerns about the stressful demands in healthcare. This study investigated which job demands and job resources and personal resources are associated with work engagement and burnout and whether the effects of these demands and resources differ for medical residents and specialists. Design In a survey study among residents and specialists, we assessed job demands, job resources, personal resources, work engagement and burnout symptoms using validated questionnaires (January to December 2017). Results were analysed using multivariate generalised linear model, ordinary least squares regression analyses and path analyses. Setting Five academic and general hospitals in the Netherlands. Participants A total number of 124 residents and 69 specialists participated in this study. Participants worked in the fields of pediatrics, internal medicine and neurology. Results The associations of job and personal resources with burnout and work engagement differed for residents and specialists. Psychological capital was associated with burnout only for specialists (b=-0.58, p<0.001), whereas psychological flexibility was associated with burnout only for residents (b=-0.31, p<0.001). Colleague support (b=0.49, p<0.001) and self-compassion (b=-0.33, p=0.004) were associated with work engagement only for specialists. Conclusion This study suggests that particularly personal resources safeguard the work engagement and lessen the risk of burnout of residents and specialists. Both residents and specialists benefit from psychological capital to maintain optimal functioning. In addition, residents benefit from psychological flexibility, while specialists benefit from colleague support. Personal resources seem important protective factors for physicians' work engagement and well-being. When promoting physician well-being, a one-size-fits-all approach might not be effective but, instead, interventions should be tailored to the specific needs of specialists and residents

Cost of health care for paediatric patients with sickle cell disease: An analysis of resource use and costs in a European country

Background: While multiple studies have examined the cost of health care for one aspect of sickle cell disease care, few have focussed on the overall cost of comprehensive care for sickle cell disease. Methods: We conducted a retrospective cohort study of children with sickle cell disease treated in a comprehensive care centre from 1 January 2015 to 31 December 2016. Health care utilisation of included patients was based upon data from two main sources. The clinical practice guideline was used to determine the expected resource use of routine comprehensive care (planned elective care), and the financial claims database was used to estimate real-world resource use associated with acute and inpatient care (additional care). Results: A total of 125 children with sickle cell disease were analysed. Expenditures for these patients averaged €5049 [standard deviation (SD) €1634] per child per year. Total yearly costs per patient varied considerably, ranging from €669 to €84 010, and less than 15% of patients were responsible for 50% of the health care costs. The majority (37%) of costs was associated with inpatient hospital care, which increased by age group, 27% with diagnostics, 19% with treatment, 11% with outpatients’ visits and 6% with emergency care. Conclusion: We have described real-world resource use and expenditures for children with sickle cell disease in a European comprehensive care centre. It seems that costs of a comprehensive approach with effective management in the outpatient setting is favourable when compared to episodic health care

Silent cerebral infarcts in patients with sickle cell disease: a systematic review and meta-analysis

Background and purpose: Silent cerebral infarcts (SCIs) are the most common neurological complication in children and adults with sickle cell disease (SCD). In this systematic review, we provide an overview of studies that have detected SCIs in patients with SCD by cerebral magnetic resonance imaging (MRI). We focus on the frequency of SCIs, the risk factors involved in their development and their clinical consequences. Methods: The databases of Embase, MEDLINE ALL via Ovid, Web of Science Core Collection, Cochrane Central Register of Trials via Wiley and Google Scholar were searched from inception to June 1, 2019. Results: The search yielded 651 results of which 69 studies met the eligibility criteria. The prevalence of SCIs in patients with SCD ranges from 5.6 to 80.6% with most studies reported in the 20 to 50% range. The pooled prevalence of SCIs in HbSS and HbSβ0 SCD patients is 29.5%. SCIs occur more often in patients with the HbSS and HbSβ0 ge