Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.

Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.

The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high-grade transformation.

Tumour evolution with acquisition of more aggressive disease characteristics is a hallmark of disseminated cancer. Metastatic pancreatic neuroendocrine tumours (PanNETs) in particular may progress from a low/intermediate to a high-grade disease. The aim of this work was to understand the molecular mechanisms underlying metastatic progression as well as PanNET transformation from a low/intermediate to a high-grade disease.

Virtual/augmented reality-based human-machine interface and interaction modes in airport control towers.

The concept of an innovative human-machine interface and interaction modes based on virtual and augmented reality technologies for airport control towers has been developed with the aim of increasing the human performances and situational awareness of air traffic control operators. By presenting digital information through see-through head-mounted displays superimposed over the out-of-the-tower view, the proposed interface should stimulate controllers to operate in a head-up position and, therefore, reduce the number of switches between a head-up and a head-down position even in low visibility conditions. This paper introduces the developed interface and describes the exercises conducted to validate the technical solutions developed, focusing on the simulation platform and exploited technologies, to demonstrate how virtual and augmented reality, along with additional features such as adaptive human-machine interface, multimodal interaction and attention guidance, enable a more natural and effective interaction in the control tower.