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

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

International audienc

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Transplantation and immunomodulatio

Evaluating the voltage regulation of a UPFC using PI and fuzzy logic controller

In recent years it has been illustrated that the Unified Power Flow Controller (UPFC) installation location plays an important role in effecting nonlinearly its steady state performance. A Pulse Width Modulation (PWM) based UPFC used as a voltage regulator is modeled and analyzed to investigate its optimal position in the transmission line. From the simulation results it is demonstration that by varying the modulation index of the device it can control the distribution of the active and reactive power flows. In addition, this paper deals with the definition and simulation of the control strategy of the closed-loop UPFC with a series compensation block when it operates as a terminal voltage regulator using Electromagnetic Transients Program (EMTP). The design and simulation of two types of digital controller strategies for the study system in this paper have been carried out. The dynamic performance in terms of speed stability, accuracy, robustness and simplicity of a PI controller with gain scheduling and a fuzzy logic controller have been tested and compared