A second hit for TMA

Birth characteristics and schizotypy: evidence of a potential "second hit".

Schizophrenia is associated with a modest increase in winter births as well as increased odds of being born in more densely populated and midrange latitude regions. It is unclear the degree to which these findings hold for individuals with schizotypy, defined in terms of the personality organization that is a potential precursor to schizophrenia-spectrum disorders. This issue is important for u...

The second hit: comorbidities in systemic lupus erythematosus

Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?

BACKGROUND Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited mutations of TGF-β genes, such as the bone morphogenetic protein receptor 2 (BMPR2) and Endoglin (ENG) gene. Additional modifier genes may play a role in disease manifestation and severity. In this study we prospectively assessed two families with known BMPR2 or ENG mutations clinically an...

EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension

BACKGROUND Mutations in the eukaryotic translation initiation factor 2α kinase 4 (EIF2AK4) gene have recently been identified in recessively inherited veno-occlusive disease. In this study we assessed if EIF2AK4 mutations occur also in a family with autosomal dominantly inherited pulmonary arterial hypertension (HPAH) and incomplete penetrance of bone morphogenic protein receptor 2 (BMPR2) muta...

VertiDigi – A New Working Environment for E-TMA

In this paper, we will describe a new working environment that has been designed in the framework of the ASTER project, Assistant for TERminal Sectors. The purpose of this project is to explore and propose new concepts for a working environment dedicated to Air Traffic Control in Terminal Sectors. An initial description of the characteristics of such sectors is given. An analysis of the tasks o...