[Haemoglobinopathy in the 21st century: incidence, diagnosis and heel prick screening]. / Hemoglobinopathie in de 21e eeuw: incidentie, diagnose en hielprikscreening.

OBJECTIVE: To determine the incidence of severe haemoglobinopathy, to evaluate the effect of heel prick screening, and to identify those children who do not benefit from this early diagnosis. DESIGN: Prospective descriptive study. METHOD: Registration of all symptomatic and asymptomatic children who between 2003-2009 were newly diagnosed with the a severe form of a hereditary disorder concerning the formation of the alpha haemoglobin chain (HbH disease), or the beta haemoglobin chain (sickle cell disease or beta thalassaemia major) in the Netherlands. Registration was done by collecting anonymised reports from the Dutch Paediatric Surveillance Unit and TNO, and by additional questionnaires. RESULTS: During the study period, 48 children (range: 36-76) per year were diagnosed with severe haemoglobinopathy. The overall incidence was 2.5 per 10,000 live births. The incidence of sickle cell disease diagnosed by heel prick screening was 2.1 per 10,000 live births and of thalassaemia major 0.6 per 10,000 live births. In 7% of the children with sickle cell disease who were diagnosed without any form of screening, the diagnosis was made on (a life threatening) infection. Twenty-two percent of the children with a severe form of haemoglobinopathy were not born in the Netherlands. The parents of almost half of the children with sickle cell disease originally came from West- or Central Africa. The parents of children with thalassaemia major were mainly from Morocco or various Asiatic countries. CONCLUSION: The number of children with severe haemoglobinopathy in the Netherlands has trebled since 1992. In order for all children to benefit from early diagnosis and preventive treatment, it is advisable that children who originate from risk areas should be tested for haemoglobinopathy when they first arrive in the Netherlands.

[Von Willebrand disease in the Netherlands: the WiN study]. / De ziekte van von Willebrand in Nederland: de WiN-studie.

Von Willebrand disease is the most common inherited bleeding disorder and is characterised by mucocutaneous bleeding. Von Willebrand disease is caused by reduced levels or reduced function of von Willebrand factor. Depending on the cause, von Willebrand disease is distinguished into various types with their own characteristics and treatment options. The frequency and severity of bleeding in patients with von Willebrand disease is strongly determined by von Willebrand factor levels, factor VIII levels and the type of von Willebrand disease. Eighty-five percent of all adult females with von Willebrand disease reports menorrhagia. A high percentage have postpartum excessive blood loss (37% of all deliveries). The quality of life is reduced in patients with von Willebrand disease. Patients with von Willebrand disease have a reduced risk of arterial thrombosis such as a myocardial or cerebral infarction.

Implementation of evidence-based practice: outside the box, throughout the hospital.

BACKGROUND: Evidence-based practice (EBP) is a generally accepted means to improve healthcare quality. However, not all healthcare professionals and managers apply EBP in daily practice. We investigated EBP attitudes, knowledge and the perceived barriers and facilitators to practising EBP , to define tailor-made interventions for improving evidence-based behaviour. METHODS: In this cross-sectional survey, doctors and nurses from five major specialities of a university hospital were invited to complete the McColl and Barriers questionnaires. RESULTS: Response rates were 70% (305÷435) for doctors and 74% (396÷537) for nurses. They were welcoming towards EBP, but considered time constraints, knowledge gaps and poor availability of evidence as major barriers to implement EBP . They also mentioned contradicting results (75%) and flawed methodology (69%), while nurses frequently mentioned unawareness of (75%), or difficulty in reading and interpreting research papers (70%). Regarding EBP knowledge, 6/8 common EBP terms could be explained by 54% of doctors but by only 15% of nurses. Facilitating factors among doctors concerned the availability and accessibility of high-level evidence and communication of evidence during various clinical meetings and handovers for clinical decision making. Among nurses, promoting factors involved more teaching and instances to incorporate EBP in clinical practice. Both groups desired more managerial support in terms of motivation and opportunities. CONCLUSIONS: Doctors and nurses have embraced the EBP paradigm as an important means to improve quality of clinical patient care, but its application is still cumbersome. This paper offers a tailored programme for implementation and managerial role-models.sustainment of EBP, corroborated by professional and managerial role-models.

Diagnostic dilemmas and results of treatment for chronic constipation.

Chronic functional constipation (CFC) may be difficult to recognise and information regarding its long term prognosis is scarce. The records of 244 children with CFC, aged 0-18 years, were analysed for symptoms at presentation and results of treatment, and long term outcome was evaluated by means of a telephone interview in 137 patients discharged for more than one year. The patients presented with a great variety of symptoms, only 22% having infrequent defecation of increased consistency, another 22% having an obviously normal defecation pattern. The mean duration of treatment was 13 months. At the time of discharge, 69% of the patients still used laxatives. At a median of four years after discharge, 66% of the children were free of symptoms and without medication, 39% having experienced a recurrence. It is concluded that CFC may be difficult to recognise and can be alleviated by an intensive laxative regimen. Recurrence of symptoms is common, but the long term prognosis is good in most patients.