Search results for " genetic risk factors"
showing 4 items of 4 documents
Superficial venous thrombosis: Prevalence of common genetic risk factors and their role on spreading to deep veins
2008
Introduction. Superficial venous thrombosis (SVT) has been considered for a long time a limited clinical condition with a low importance, but this approach has changed in recent years, when several studies demonstrated spreading to deep veins occurring from 7.3 to 44%, with high prevalence of pulmonary embolism . Materials and Methods. To evaluate the prevalence of genetic risk factors for VTE in patients suffering from SVT on both normal and varicose vein, and to evaluate their role on spreading to deep veins, we studied 107 consecutive outpatients with symptomatic SVT. Ultrasound examination was performed, and the presence of FV Leiden, Prothrombin G20210A mutation, MTHFR C677T mutation w…
Risk of aortic dissection in patients with ascending aorta aneurysm: a new biological, morphological, and biomechanical network behind the aortic dia…
2020
Thoracic aortic aneurysm represents a deadly condition, particularly when it evolves into rupture and dissection. Proper surgical timing is the key to positively influencing the survival of patients with this pathology. According to the most recent guidelines, ascending aorta size ≥ 55 mm and a rate of growth ≥ 0.5 cm per year are the most important factors for surgical indication. Nevertheless, a lot of evidence show that aortic ruptures and dissections might occur also in small size ascending aorta. In this review, we sought to analyze a new biological and morphological network behind the aortic diameter that need to be considered in order to identify the portion of patients with thoracic…
IL-1 Superfamily Member (IL-1A, IL-1B and IL-18) Genetic Variants Influence Susceptibility and Clinical Course of Mediterranean Spotter Fever
2022
Mediterranean Spotted Fever (MSF) is one of the most common spotted fever Rickettsioses. Most cases of MSF follow a benign course, with a minority of cases being fatal. The severity of the infection depends on bacterial virulence, dose and host factors such as effective immune response and genetic background. Herein, we reported data on typing by competitive allele-specific PCR of functionally relevant polymorphisms of genes coding for MyD88 adapter-like (Mal/TIRAP) protein (rs8177374), interleukin(IL)-1 cluster (IL-1A rs1800587, IL-1B rs16944 and rs1143634) and IL-18 (rs187238), which might be crucial for an efficient immune response. The results enlighten the role that IL-1 gene cluster v…
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study
2012
Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…