Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Adenosine deaminase 2 (ADA2) is an enzyme involved in purine metabolism and a growth factor that influences the development of endothelial cells and leukocytes. This study shows that defects in ADA2 cause recurrent fevers, vascular pathologic features, and mild immunodeficiency. Patients with autoinflammatory disease sometimes present with clinical findings that encompass multiple organ systems.(1) Three unrelated children presented to the National Institutes of Health (NIH) Clinical Center with intermittent fevers, recurrent lacunar strokes, elevated levels of acute-phase reactants, livedoid rash, hepatosplenomegaly, and hypogammaglobulinemia. Collectively, these findings do not easily fit with any of the known inherited autoinflammatory diseases. Hereditary or acquired vascular disorders can have protean manifestations yet be caused by mutations in a single gene. Diseases such as the Aicardi-Goutieres syndrome,(2),(3) polypoidal choroidal vasculopathy,(4) sickle cell anemia,(5) livedoid vasculopathy,(6) and the small-vessel vasculitides(7),(8) are examples of systemic ...</p

Integration of Biological, Psychological and Social Aspects in Agent-Based Simulation of a Violent Psychopath

Abstract. In the analysis of criminal behaviour, a combination of biological, psychological and social aspects may be taken into account. Dynamical modelling methods developed in recent years often address these aspects separately. This paper contributes an agent-based modelling approach for behaviour of a certain criminal type, the violent psychopath, in which these aspects are integrated in one dynamical system. It is shown how within a certain social context, an interaction between biological factors and cognitive and emotional factors can lead to a crime committed when an opportunity is perceived

Clinical management of catecholaminergic polymorphic ventricular tachycardia: The role of left cardiac sympathetic denervation.

BACKGROUND: -Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a genetic disorder causing life-threatening arrhythmias whenever sympathetic activity increases. &Beta;-blockers are the mainstay of therapy; when they fail, implantable cardioverter defibrillators (ICDs) are used but often cause multiple shocks. Preliminary results with flecainide appear encouraging. We proposed left cardiac sympathetic denervation (LCSD) as useful additional therapy, but evidence remains anecdotal. METHODS AND RESULTS: -We report on 63 CPVT patients who underwent LCSD as secondary (n=54) or primary (n=9) prevention. The median post-LCSD follow-up was 37 months. The 9 asymptomatic patients remained free of major cardiac events (MCEs). Of the 54 patients with prior MCEs either on (n=38) or off (n=16) optimal medical therapy (OMT), 13 (24%) had at least 1 recurrence: none had an aborted cardiac arrest, 2 had syncope only, 10 had &ge;1 appropriate ICD discharge and one died suddenly. The 1- and 2-year cumulative event-free survivals were 87% and 81%. The percentage of patients with MCEs despite OMT (n=38) was reduced from 100% to 32% (p&lt;0.001) following LCSD and, among 29 patients with a pre-surgical ICD, the rate of shocks dropped by 93%, from 3.6 to 0.6 shocks/person/year (p&lt;0.001). Patients with an incomplete LCSD (n=7) were more likely to suffer MCEs post-LCSD (71% vs 17%, p&lt;0.01) than those with a complete LCSD. CONCLUSIONS: -LCSD is an effective anti-fibrillatory intervention for patients with CPVT. Whenever syncope occurs despite OMT, LCSD could be considered as the next step rather than an ICD and could complement ICDs in patients with recurrent shocks

Towards Integration of Biological, Psychological, and Social Aspects in Agent-Based Simulation of Violent Offenders

In the analysis of criminal behavior, a combination of biological, psychological and social aspects may be taken into account. Dynamical modeling methods developed in recent years often address biological, psychological or social dynamical systems separately. This paper makes the first step in the development of an agent-based modeling approach for criminal behavior in which these aspects are integrated in one dynamical system. It is shown how within a certain (multi-agent) social context, biological factors, such as certain brain deviations, testosterone levels and serotonin levels, affect cognitive and emotional functioning in such a way that a crime is committed when the perceived opportunity is there. This paper presents one generic model for the behavior of violent offenders with parameters that can be set to obtain simulation traces for three known types of offenders. © 2009, SAGE Publications. All rights reserved