Search results for "AO"
showing 10 items of 3887 documents
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…
2016
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…
Cardiovascular disease in aging: an overview on thoracic aortic aneurysm as an emerging inflammatory disease
2017
Medial degeneration associated with thoracic aortic aneurysm and acute aortic dissection was originally described by Erdheim as a noninflammatory lesion related to the loss of smooth muscle cells and elastic fibre fragmentation in the media. Recent evidences propose the strong role of a chronic immune/inflammatory process in aneurysm evocation and progression. The coexistence of inflammatory cells with markers of apoptotic vascular cell death in the media of ascending aorta with aneurysms and type A dissections raises the possibility that activated T cells and macrophages may contribute to the elimination of smooth muscle cells and degradation of the matrix. On the other hand, several infla…
Lipoprotein(a) Levels in Patients With Abdominal Aortic Aneurysm
2016
Circulating markers relevant to the development of abdominal aortic aneurysm (AAA) are currently required. Lipoprotein(a), Lp(a), is considered a candidate marker associated with the presence of AAA. The present meta-analysis aimed to evaluate the association between circulating Lp(a) levels and the presence of AAA. The PubMed-based search was conducted up to April 30, 2015, to identify the studies focusing on Lp(a) levels in patients with AAA and controls. Quantitative data synthesis was performed using a random effects model, with standardized mean difference (SMD) and 95% confidence interval (CI) as summary statistics. Overall, 9 studies were identified. After a combined analysis, patie…
Mineral essential elements for nutrition in different chocolate products
2016
In this work, the essential mineral nutritional elements in cocoa beans, in chocolates at different cocoa percentage (60,70,80 and 90%) and in milk chocolate are evaluated. Dark chocolates are confirmed as an excellent source of magnesium (252.2 mg/100 g) and iron (10.9 mg/100 g): in chocolate containing 90% cocoa, their content corresponds to, respectively, 67.0% and 80.3 of Nutrient Reference Values (NRV) in the European Union. The chocolate containing 90% cocoa is also a good source of zinc (3.5 mg/100 g), which is important for the immune system, and selenium (0.1 mg/100 g). Three main components suitable to explain the mineral concentrations are analyzed by factor analysis. The compone…
Chromosomal distribution of interstitial telomeric sequences in nine neotropical primates (Platyrrhini): possible implications in evolution and phylo…
2016
To localize interstitial telomeric sequences (ITSs) and to test whether their pattern of distribution could be linked to chromosomal evolution, we hybridized telomeric sequence probes (peptide nucleic acid, PNA) on metaphases of New World monkeys: Callithrix argentata, Callithrix jacchus, Cebuella pygmaea, Saguinus oedipus, Saimiri sciureus, Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae), Lagothrix lagotricha (Atelidae) and Callicebus moloch (Pithecidae), characterized by a rapid radiation and a high rate of chromosomal rearrangements. Our analysis of the probe signal localization allowed us to show in all the species analysed, as normally, the telomeric location at the terminal en…
Effects of Infant Formula With Human Milk Oligosaccharides on Growth and Morbidity: A Randomized Multicenter Trial
2017
Objectives:The aim of the study was to evaluate the effects of infant formula supplemented with 2 human milk oligosaccharides (HMOs) on infant growth, tolerance, and morbidity. Methods:Healthy infants, 0 to 14 days old, were randomized to an intact-protein, cow's milk-based infant formula (control, n=87) or the same formula with 1.0g/L 2fucosyllactose (2FL) and 0.5g/L lacto-N-neotetraose (LNnT) (test, n=88) from enrollment to 6 months; all infants received standard follow-up formula without HMOs from 6 to 12 months. Primary endpoint was weight gain through 4 months. Secondary endpoints included additional anthropometric measures, gastrointestinal tolerance, behavioral patterns, and morbidit…
Genotyping strategy of SMAD-3 rs3825977 gene variant for a differential management of ascending aorta aneurysm in women people: Gender oriented diagn…
2020
Abstract Background and objectives The research of opportune strategies for facilitating the management of complex pathologies, such as ascending aorta aneurysm (AAA), currently represents the principal object of clinicians, clinical pathologists included. Herein, we propose genotyping of gene variants related to TGF-β pathway as useful strategy to improve the complex AAA management, exclusively based on imaging evaluations. Precisely, we investigated four functional SNPs in SMAD and VEGF genes, encoding molecules able to modulate functions and cross-talks of TGF-β pathway. Populations and methods Our study included 92 individuals (70 men (76%) and 22 (24%) women; mean age: 71.4 ± 2.6 years…
AB0691 INCREASED CARDIOVASCULAR RISK IN MIXED CONNECTIVE TISSUE DISEASE: EVALUATION OF MACROVASCULAR INVOLVEMENT AND ITS PREDICTORS BY AORTIC PULSE W…
2019
Background: Macrovascular involvement and cardiovascular (CV) risk have not been sufficiently studied in patients with mixed connective tissue disease (MCTD). In particular, the gold standard assessment method of aortic stiffness carotid-femoral pulse wave velocity (cfPWV) (1) has never been evaluated in patients with this disease. Objectives: Aims of the present study were to examine cfPWV in MCTD and to evaluate its associations with MCTD associated parameters and traditional CV risk factors. Methods: cfPWV measurements were performed in 43 MCTD patients and 107 healthy controls. The difference between cfPWV in the two groups was statistically examined and subsequently controlled for the …
THU0520 Assessment of cardiovascular risk in patients with fibromyalgia by carotid-femoral pulse wave velocity – results of a prospective study
2018
Background Autonomic dysfunction, a basic element of fibromyalgia (FM), has been in some cases related to increased risk of cardiovascular (CV) disease. CV risk associates with aortic stiffness, which can be reliably assessed by carotid-femoral pulse wave velocity (cfPWV). Objectives Aims of this study were to test the hypothesis of increased cfPWV in a group of patients with FM and to examine its association with FM associated parameters and selected traditional CV risk factors. Methods We performed measurements of cfPWV in 99 FM patients and 102 healthy controls. The difference between cfPWV values in the two groups after controlling for possible confounding factors was evaluated through …
Calcified Spinal Meningioma: A Lurking Danger
2017
Tumors of the spine with an intradural location have an incidence ranging from 3 to 10 per 100,000 persons per year, and intradural extramedullary tumors account for two thirds of all intraspinal neoplasms. Among these, spinal meningiomas account for 25%–46% of all spinal cord tumors. They develop from the arachnoid cells that differentiate from neural crest cells and, like cerebral meningioma, they have a slow-growing behavior. Although spinal meningiomas are not uncommon, calcified spinal meningioma is rare in spinal location. Calcified meningioma manifests with extensive matrix and tends to infiltrate the surrounding structures. It exhibits a growth pattern limited by an incompletely dev…