Reusable data visualization patterns for clinical practice

Among clinical psychologists involved in guided internet-facilitated interventions, there is an overarching need to understand patients symptom development and learn about patients need for treatment support. Data visualizations is a technique for managing enormous amounts of data and extract useful information, and is often used in developing digital tool support for decision-making. Although there exists numerous data visualisation and analytical reasoning techniques available through interactive visual interfaces, it is a challenge to develop visualizations that are relevant and suitable in a healthcare context, and can be used in clinical practice in a meaningful way. For this purpose it is necessary to identify actual needs of healthcare professionals and develop reusable data visualization components according to these needs. In this paper we present a study of decision support needs of psychologists involved in online internet-facilitated cognitive behavioural therapy. Based on these needs, we provide a library of reusable visual components using a model-based approach. The visual components are featured with mechanisms for investigating data using various levels of abstraction and causal analysis

Age-related penetrance of hereditary atypical hemolytic uremic syndrome

Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes. After identification of the mutation in an affected aHUS patient, single-site gene testing of relatives is the preventive care perspective. However, clinical data for family counselling are scarce. From the German-Speaking-Countries-aHUS-Registry, 33 index patients with mutations were approached for permission to offer relatives screening for their family-specific mutations and to obtain demographic and clinical data. Mutation screening was performed using direct sequencing. Age-adjusted penetrance of aHUS was calculated for each gene in index cases and in mutation-positive relatives. Sixty-one relatives comprising 41 parents and 20 other relatives were enrolled and mutations detected in 31/61. In total, 40 research participants had germline mutations in CFH, 19 in CD46 and in 6 CFI. Penetrance at age 40 was markedly reduced in mutation-positive relatives compared to index patients overall with 10% versus 67% (P < 0.001); 6% vs. 67% (P < 0.001) in CFH mutation carriers and 21% vs. 70% (P= 0.003) in CD46 mutation carriers. Age-adjusted penetrance for hereditary aHUS is important to understand the disease, and if replicated in the future, for genetic counselling