West Nile virus meningoencephalitis during pregnancy: Case report with MR imaging findings

AbstractMR imaging findings of West Nile virus meningoencephalitis during pregnancy are unknown. We report the first case of serologically proved West Nile virus meningoencephalitis complicating pregnancy with MRI findings. MR imaging of the brain revealed abnormal hyperintensity in the periventricular white matter near the left frontal horn and insular left lobe on fluid-attenuated inversion recovery and T2-weighted images. Evolution was favorable, and no obvious fetal consequences of infection were noted after birth. Recognition of the MR imaging appearance of this entity is important because of the expanding epidemic

Engineering Semantic Self-composition of Services Through Tuple-Based Coordination

Service self-composition is a well-understood research area focusing on service-based applications providing new services by automatically combining pre-existing ones. In this paper we focus on tuple-based coordination, and propose a solution leveraging logic tuples and tuple spaces to support semantic self-composition for services. A full-stack description of the solution is provided, ranging from a theoretical formalisation to a technologically valuable design and implementation

Toll-like-Receptor Gene Polymorphisms in Tunisian Endemic Pemphigus Foliaceus

Pemphigus foliaceus (PF) is considered to be caused by the combined effects of susceptibility genes and environmental triggers. The polymorphisms of Toll-like receptors (TLRs) genes have been associated with the risk of various autoimmune diseases. The aim of this study was to evaluate the potential association of TLR2-3-4 and 7 gene polymorphisms with Tunisian PF. Fourteen polymorphisms were analyzed in 93 Tunisian PF patients compared to 193 matched healthy controls: rs5743703-rs5743709 and (GT)n repeat (TLR2); rs5743305, rs3775294, and rs3775291 (TLR3), rs4986790 and rs4986791 (TLR4); and rs3853839 (TLR7). Our results showed that the genetic factors varied depending on the epidemiological feature stratification. In fact, in the whole population, no association with the susceptibility to PF was found. The TLR2 GT repeat seems to be closely associated with PF risk in patients originated from the endemic localities (group 3); the GT18 allele and the heterozygous genotype GT18/GT19 seem to confer risk to endemic PF (P=0.02; OR=2.3 [1.1-4.9] and P=0.0002, OR=20 [2.5-171], respectively). In contrast, the GT23 repeat could be considered as protector allele (P=0.02, OR=0.2 [0.06-0.87]). Furthermore, medium GT alleles which induce high promoter activity were also significantly more frequent in patients versus short or long GT repeats (P=0.0018 with OR=3.26 [1.5-7]). On the other hand, the TLR3-rs574305 AA genotype and A allele were significantly more frequent in patients whose age of the onset was above 35 years (group 2) (P=0.038, OR=1.78 and P=0.009, OR=3.92, respectively). Besides, the TLR4>rs3775294 A allele was found to be protector only in patients with sporadic features (groups 2 and 4) (P=0.03, OR=0.57 [0.3-0.9] and P=0.006, OR=0.24 [0.08-0.74], respectively). No statistically significant difference was observed in the genotypic and allelic frequencies of TLR-4 and TLR-7 gene polymorphisms. The present data suggest that TLR2and TLR3 polymorphisms are significantly associated with increased susceptibility to PF in the Tunisian population

Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer

Breast cancer, the most commonly diagnosed cancer in women, is the second leading cause of cancer death in women worldwide. To investigate the contribution of BRCA1 gene mutations to familial breast cancer in Tunisia, 32 unrelated patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. BRCA1 mutation analysis was performed by DNA sequencing of all BRCA1 exons. We identified four different BRCA1 frameshift mutations: c. 4041delAG, c. 2551delG and c. 5266dupC already been described and one novel mutation, c. 211dupA, observed in two unrelated families. C. 5266dupC has previously been found among Jewish Ashkenazi and Eastern European populations. Our study describes it in Arabic/Berber population. Five out of thirty two familial cases had deleterious BRCA1 mutations. Fifteen additional cases carried unclassified variants (UV) or single nucleotide polymorphisms (SNPs). Our study is the first molecular investigation on the role of BRCA1 in hereditary breast cancer in North Tunisia