Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions

INTRODUCTION: Bicuspid aortic valve (BAV) affects 1% of the general population. NOTCH1 was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to NOTCH1 mutations has not been estimated. AIM: The aim of our study was to provide an estimate of familial and sporadic BAV disease attributable to NOTCH1 mutations. METHODS: The population of our study consisted of participants of the University of Leicester Bicuspid aoRtic vAlVe gEnetic research-8 pedigrees with multiple affected family members and 381 sporadic patients. All subjects underwent NOTCH1 sequencing. A systematic literature search was performed in the NCBI PubMed database to identify publications reporting NOTCH1 sequencing in context of congenital heart disease. RESULTS: NOTCH1 sequencing in 36 subjects from 8 pedigrees identified one variant c.873C>G/p.Tyr291* meeting the American College of Medical Genetics and Genomics criteria for pathogenicity. No pathogenic or likely pathogenic NOTCH1 variants were identified in 381 sporadic patients. Literature review identified 64 relevant publication reporting NOTCH1 sequencing in 528 pedigrees and 9449 sporadic subjects. After excluding families with syndromic disease pathogenic and likely pathogenic NOTCH1 variants were detected in 9/435 (2.1%; 95% CI: 0.7% to 3.4%) of pedigrees and between 0.05% (95% CI: 0.005% to 0.10%) and 0.08% (95% CI: 0.02% to 0.13%) of sporadic patients. Incomplete penetrance of definitely pathogenic NOTCH1 mutations was observed in almost half of reported pedigrees. CONCLUSIONS: Pathogenic and likely pathogenic NOTCH1 genetic variants explain 2% of familial and <0.1% of sporadic BAV disease and are more likely to associate with tetralogy of Fallot and hypoplastic left heart

Drug-eluting stents appear superior to bare metal stents for vein-graft PCI in vessels up to a stent diameter of 4 mm.

BACKGROUND: Research trials have shown improved short-term outcome with drug-eluting stents (DES) over bare metal stents (BMS) in saphenous vein graft (SVG) percutaneous coronary intervention (PCI), primarily by reducing target vessel revascularization (TVR) for in-stent restenosis. We compared the outcomes in patients undergoing SVG stent implantation treated with DES or BMS. In exploratory analyses we investigated the influence of stent generation and diameter. METHODS: Data were obtained from a prospective database of 657 patients who underwent PCI for SVG lesions between 2003 and 2011. A total of 344 patients had PCI with BMS and 313 with DES. Propensity scores were developed based on 15 observed baseline covariates in a logistic regression model with stent type as the dependent variable. The nearest-neighbour-matching algorithm with Greedy 5-1 Digit Matching was used to produce two patient cohorts of 313 patients each. We assessed major adverse cardiac events (MACE) out to a median of 3.3 years (interquartile range: 2.1-4.1). MACE was defined as all-cause mortality, myocardial infarction (MI), TVR and stroke. RESULTS: There was a significant difference in MACE between the two groups in favour of DES (17.9% DES vs. 31.2% BMS group; p = 0.0017) over the 5-year follow-up period. MACE was driven by increased TVR in the BMS group. There was no difference in death, MI or stroke. Adjusted Cox analysis confirmed a decreased risk of MACE for DES compared with BMS 0.75 (95% confidence interval (CI) 0.52-0.94), with no difference in the hazard of all-cause mortality (hazard ratio: 1.08; 95% CI: 0.77-1.68). However, when looking at stent diameters greater than 4 mm, no difference was seen in MACE rates between BMS and DES. CONCLUSIONS: Overall in our cohort of patients who had PCI for SVG disease, DES use resulted in lower MACE rates compared with BMS over a 5-year follow-up period; however, for stent diameters over 4 mm no difference in MACE rates was seen

Survey of network access security in UMTS/LTE networks

International audienceMobile communications have known an impressive development in recent years, and are characterized by a trend towards broadband communications and extremely diverse applications. For some of these applications, such as financial transactions, shopping or online social networks, security is of extreme importance. This paper presents a survey of the most important and most vulnerable part of the security of wireless networks: network access. The study includes the protocols used by UMTS and LTE standards as well as some of the latest protocols proposed in the literature

Secure and efficient support of internet multicast transmission over satellite DVB

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Chaos based improvement of the security of ZigBee and Wi-Fi networks used for industrial controls

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A new chaotic encryption algorithm to enhance the security of ZigBee and Wi-Fi networks

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Using Grey Wolf Optimization Algorithm and Whale Optimization Algorithm for Optimal Sizing of Grid-Connected Bifacial PV Systems

The shift towards renewable energies is driven by the shortage of fossil fuels for electricity generation and the associated harmful impacts. Grid-connected PV systems are a reliable and effective choice for power production across different uses, making them a key player in the global renewable energy landscape. Consequently, the careful selection of components for these systems is a crucial and widely studied aspect in this area of research. This paper introduced using gray wolf optimization algorithm GWO whale optimization algorithm WOA for determining the optimal number of grid - connected bifacial photovoltaic PV systems in Babylon Hilla. The considered factors included available space, desired energy production, radiation, dihedral factor, budget constraints, and grid connectivity requirements. The mathematical formulation of the problem and implementation details of the algorithms are presented. In addition, two cases studied are performed one for a residential area, and the other for a single house. The results demonstrated the efficiency and effectiveness of both algorithms in identifying optimal solutions for determining the size of systems in the area under study. However, the WOA surpassed the GWO in meeting the optimization criteria. The proper selection of these systems resulted in higher power generation, lower costs, improved energy management, and the advancement of sustainable solar energy solutions

Chaos-based cryptosystem for secure transmitted images

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A scalable key management scheme for secure IP multicast over DVB-S using chaos

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