SEMANTIC MODELLING OF COMMON DATA ELEMENTS FOR RARE DISEASE REGISTRIES, AND A PROTOTYPE WORKFLOW FOR THEIR DEPLOYMENT OVER REGISTRY DATA

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

Abstract Background The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability.The first practical output of this effort was a

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An Unusual Cause of Hypoxia: Ventricular Septal Defect, Pulmonary Artery Atresia, and Major Aortopulmonary Collaterals Diagnosed in the Adult Cardiac Catheterization Lab

The association of pulmonary atresia, ventricular septal defect (VSD) and major aortopulmonary collaterals (MAPCA) is an extreme form of tetralogy of Fallot (TOF).It carries a Ignition high mortality risk if not intervened on during infancy with only 20% of unoperated patients surviving into adulthood.We present the case of a 40-year-old man who pr

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Classification and taxonomy of vegetable macergens

Macergens are bacteria capable of releasing pectic enzymes (pectolytic bacteria).These enzymatic actions result in the separation of plant Tank Cover tissues leading to total plant destruction.This can be attributed to soft rot diseases in vegetables.These macergens primarily belong to the genus Erwinia and to a range of opportunistic pathogens nam

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