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Medical devices and information technology, these two realms are merging not only in hospitals but also in clinical research/clinical trials. There is the need for standardization in exporting and importing data in Electronic Data Capture (EDC) and also for focussing on interoperability, effectiveness and efficiency. We provide examples of exporting data from spirometry, ergometry and bodyplethysmography.

Previous omics research in patients with complex congenital heart disease and single-ventricle circulation (irrespective of the stage of palliative repair) revealed alterations in cardiac and systemic metabolism, inter alia abnormalities in energy metabolism, and inflammation, oxidative stress or endothelial dysfunction. We employed an affinity-proteomics approach focused on cell surface markers, cytokines, and chemokines in the serum of 20 adult Fontan patients with a good functioning systemic left ventricle, and we 20 matched controls to reveal any specific processes on a cellular level. Analysis of 349 proteins revealed 4 altered protein levels related to chronic inflammation, with elevated levels of syndecan-1 and glycophorin-A, as well as decreased levels of leukemia inhibitory factor and nerve growth factor-ß in Fontan patients compared to controls. All in all, this means that Fontan circulation carries specific physiological and metabolic instabilities, including chronic inflammation, oxidative stress imbalance, and consequently, possible damage to cell structure and alterations in translational pathways. A combination of proteomics-based biomarkers and the traditional biomarkers (uric acid, γGT, and cholesterol) performed best in classification (patient vs. control). A metabolism- and signaling-based approach may be helpful for a better understanding of Fontan (patho-)physiology. Syndecan-1, glycophorin-A, leukemia inhibitory factor, and nerve growth factor-ß, especially in combination with uric acid, γGT, and cholesterol, might be interesting candidate parameters to complement traditional diagnostic imaging tools and the determination of traditional biomarkers, yielding a better understanding of the development of comorbidities in Fontan patients, and they may play a future role in the identification of targets to mitigate inflammation and comorbidities in Fontan patients. [ABSTRACT FROM AUTHOR]

Mutations in RBM20 encoding the RNA‐binding motif protein 20 (RBM20) are associated with an early onset and clinically severe forms of cardiomyopathies. Transcriptome analyses revealed RBM20 as an important regulator of cardiac alternative splicing. RBM20 mutations are especially localized in exons 9 and 11 including the highly conserved arginine and serine‐rich domain (RS domain). Here, we investigated in several cardiomyopathy patients, the previously described RBM20‐mutation p.Pro638Leu localized within the RS domain. In addition, we identified in a patient the novel mutation p.Val914Ala localized in the (glutamate‐rich) Glu‐rich domain of RBM20 encoded by exon 11. Its impact on the disease was investigated with a novel TTN‐ and RYR2‐splicing assay based on the patients' cardiac messenger RNA. Furthermore, we showed in cell culture and in human cardiac tissue that mutant RBM20‐p.Pro638Leu is not localized in the nuclei but causes an abnormal cytoplasmic localization of the protein. In contrast the splicing deficient RBM20‐p.Val914Ala has no influence on the intracellular localization. These results indicate that disease‐associated variants in RBM20 lead to aberrant splicing through different pathomechanisms dependent on the localization of the mutation. This might have an impact on the future development of therapeutic strategies for the treatment of RBM20‐induced cardiomyopathies. [ABSTRACT FROM AUTHOR]

The article presents a study to assess the impact of gender and age on cardiovascular function by cardiac magnetic resonance (CMR) in repaired tetralogy of Fallot (TOF). The study involved 407 consecutive patients with repaired TOF in a nationwide, prospective 14-center setting who underwent standardized CMR ventricular volumetry and flow quantification. It finds that significant gender differences of biventricular volume, function, and mass exist late after repair of TOF.

The aim of the present study was to explore developmental outcome, psychosocial adjustment and self-regulation of children who underwent corrective surgery for congenital heart disease (CHD) in early infancy and a possible association with type and procedural characteristics of the intervention. Two groups of children with CHD aged 2 to 6 years operated in infancy for ventricular septal defect (n = 19) or as neonates for transposition of the great arteries (n = 25) and a reference group (n = 35) underwent developmental and psychological testing. Vagal tone as an index for emotional self-regulation capabilities was measured during baseline and challenge conditions. The study shows that children who underwent surgery for CHD in early infancy were at a disadvantage for cognitive, emotional, and motor development compared to the reference group at preschool age. Behavioural outcome and psychosocial adjustment were generally positive in our sample and we conclude that surgical procedures leave no discernable trace in the vagal regulation system. Developmental and behavioural outcome were moderately related to oesophageal temperature and total support time during the surgery, but not uniformly across different areas of development. It seems likely that familial and environmental factors have a mediating influence. [ABSTRACT FROM AUTHOR]