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Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3S, remain incompletely understood. Here, we report on(More)
Personalized medicine as well as systems biology poses the challenge of developing new models to connect health data coming from many different flows and extract from them new information to support clinicians in their therapeutic activity. In this scenario we developed a novel framework, tailored to clinicians needs, which exploits the strength of the(More)
BACKGROUND Although there have been a wide range of epidemiological studies examining the impact of patterns of alcohol consumption among adolescents, there remains considerable variability in both defining these patterns and the ability to comprehensively evaluate their relationship to behavioural patterns. This study explores a new procedure for defining(More)
BACKGROUND Frailty has been defined in different ways and several diagnostic tools exist, but most of them are not applicable in routine primary care. Nonetheless, general practitioners (GPs) have a natural advantage in identifying frailty, due to their continued access to patients, patient-centered approach and training. GPs have also an advantage in(More)
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