Bleeding disorder of unknown cause: an illustrated review on current practice, knowledge gaps, and future perspectives.

In more than half of the individuals with a clinically relevant bleeding tendency who are referred to hemostasis experts, no biological etiology can be found after extensive laboratory testing. These persons are diagnosed with an unexplained bleeding tendency or "bleeding disorder of unknown cause" (BDUC). The mucocutaneous bleeding phenotype of individuals with BDUC is generally comparable to that of individuals with inherited bleeding disorders such as von Willebrand disease or platelet function disorders.

Comparing Smartphone Virtual Reality Exposure Preparation to Care as Usual in Children Aged 6 to 14 Years Undergoing Magnetic Resonance Imaging: Protocol for a Multicenter, Observer-Blinded, Randomized Controlled Trial.

Background: A magnetic resonance imaging (MRI) procedure can cause preprocedural and periprocedural anxiety in children. Psychosocial interventions are used to prepare children for the procedure to alleviate anxiety, but these interventions are time-consuming and costly, limiting their clinical use. Virtual reality (VR) is a promising way to overcome these limitations in the preparation of children before an MRI scan.

Development and validation of a condition-specific quality of life instrument for adults with esophageal atresia: the SQEA questionnaire.

The importance of multidisciplinary long-term follow-up for adults born with esophageal atresia (EA) is increasingly recognized. Hence, a valid, condition-specific instrument to measure health-related quality of life (HRQoL) becomes imperative. This study aimed to develop and validate such an instrument for adults with EA.

Generic PROMIS item banks in adults with hemophilia for patient-reported outcome assessment: Feasibility, measurement properties, and relevance.

Background: Legacy hemophilia-specific questionnaires are considered too long, show floor-/ceiling effects, and/or include irrelevant questions. Patient Reported Outcomes Measurement Information System (PROMIS) item banks, including Computer Adaptive Tests (CATs) and short forms, were designed for more efficient outcome assessment.

Objectives: Evaluate the feasibility, measurement properties, and relevance of seven PROMIS CATs and two short forms in patients with hemophilia.

Health-related quality of life in infants, toddlers and young children with sickle cell disease.

Background: Little is known about health-related quality of life (HRQoL) in young children with sickle cell disease living in a European country.

Methods: A retrospective cross-sectional evaluation of TNO-AZL Preschool Children Quality of Life questionnaire (TAPQOL, 0-1 year) and Pediatric Quality of Life Inventory (PedsQL, 2-7 years) data was conducted. Study participants included caregivers of children with sickle cell disease aged 0-7 years attending the sickle cell centre at the Erasmus Medical Center or the Amsterdam University Medical Centers between April 2012 and October 2020.

Sickle cell disease: Clinical presentation and management of a global health challenge.

Sickle cell disease is an autosomal recessive, multisystem disorder, characterised by chronic haemolytic anaemia, painful episodes of vaso-occlusion, progressive organ failure and a reduced life expectancy. Sickle cell disease is the most common monogenetic disease, with millions affected worldwide. In well-resourced countries, comprehensive care programs have increased life expectancy of sickle cell disease patients, with almost all infants surviving into adulthood.