Iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic rickets

Context: Autosomal dominant hypophosphatemic rickets (ADHR) is the only hereditary disorder of renal phosphate wasting in which patients may regain the ability to conserve phosphate. Low iron status plays a role in the pathophysiology of ADHR. Objective: This study reports of a girl with ADHR, iron deficiency, and a paternal history of hypophosphatemic rickets that resolved without treatment. The girl's biochemical phenotype resolved with iron supplementation. Subjects: A 26-month-old girl presented with typical features of hypophosphatemic rickets, short stature (79 cm; −2.82 SDS), and iron deficiency. Treatment with elemental phosphorus and calcitriol improved her biochemical profile and resolved the rickets. The girl's father had presented with rickets at age 11 months but never received medication. His final height was reduced (154.3 cm; −3.51 SDS), he had undergone corrective leg surgery and had an adult normal phosphate, fibroblast growth factor 23, and iron status. Father and daughter were found to have a heterozygous mutation in exon 3 of the FGF23 gene (c.536G&amp;gt;A, p.Arg179Gln), confirming ADHR. Intervention: Withdrawal of rickets medication was attempted off and on iron supplementation. Results: Withdrawal of rickets medication in the girl was unsuccessful in the presence of low-normal serum iron levels at age 5.6 years but was later successful in the presence of high-normal serum iron levels following high-dose iron supplementation. Conclusions: We report an association between iron supplementation and a complete loss of biochemical ADHR phenotype, allowing withdrawal of rickets medication. Experience from this case suggests that reduction and withdrawal of rickets medication should be attempted only after iron status has been optimized. </jats:sec

Methods for Human-Centered eHealth Development: Narrative Scoping Review

Background: Thorough holistic development of eHealth can contribute to a good fit among the technology, its users, and the context. However, despite the availability of frameworks, not much is known about specific research activities for different aims, phases, and settings. This results in researchers having to reinvent the wheel. Consequently, there is a need to synthesize existing knowledge on research activities for participatory eHealth development processes. Objective: The 3 main goals of this review are to create an overview of the development strategies used in studies based on the CeHRes (Center for eHealth Research) Roadmap, create an overview of the goals for which these methods can be used, and provide insight into the lessons learned about these methods. Methods: We included eHealth development studies that were based on the phases and/or principles of the CeHRes Roadmap. This framework was selected because of its focus on participatory, iterative eHealth design in context and to limit the scope of this review. Data were extracted about the type of strategy used, rationale for using the strategy, research questions, and reported information on lessons learned. The most frequently mentioned lessons learned were summarized using a narrative, inductive approach. Results: In the included 160 papers, a distinction was made between overarching development methods (n=10) and products (n=7). Methods are used to gather new data, whereas products can be used to synthesize previously collected data and support the collection of new data. The identified methods were focus groups, interviews, questionnaires, usability tests, literature studies, desk research, log data analyses, card sorting, Delphi studies, and experience sampling. The identified products were prototypes, requirements, stakeholder maps, values, behavior change strategies, personas, and business models. Examples of how these methods and products were applied in the development process and information about lessons learned were provided. Conclusions: This study shows that there is a plethora of methods and products that can be used at different points in the development process and in different settings. To do justice to the complexity of eHealth development, it seems that multiple strategies should be combined. In addition, we found no evidence for an optimal single step-by-step approach to develop eHealth. Rather, researchers need to select the most suitable research methods for their research objectives, the context in which data are collected, and the characteristics of the participants. This study serves as a first step toward creating a toolkit to support researchers in applying the CeHRes Roadmap to practice. In this way, they can shape the most suitable and efficient eHealth development process

OneHealth Hub

In het kader van het One Health eZoonproject heeft het Centre for eHealth & Wellbeing Research van de Universiteit Twente de OneHealth Hub ontwikkeld. Dit is een platform dat samenwerking stimuleert tussen professionals uit de humane en veterinaire gezondheidzorg ter voorkoming en bestrijding van zoönosen