An integrated genomic approach for the study of mandibular prognathism in the European seabass (Dicentrarchus labrax)

Skeletal anomalies in farmed fish are a relevant issue affecting animal welfare and health and causing significant economic losses. Here, a high-density genetic map of European seabass for QTL mapping of jaw deformity was constructed and a genome-wide association study (GWAS) was carried out on a total of 298 juveniles, 148 of which belonged to four full-sib families. Out of 298 fish, 107 were affected by mandibular prognathism (MP). Three significant QTLs and two candidate SNPs associated with MP were identified. The two GWAS candidate markers were located on ChrX and Chr17, both in close proximity with the peaks of the two most significant QTLs. Notably, the SNP marker on Chr17 was positioned within the Sobp gene coding region, which plays a pivotal role in craniofacial development. The analysis of differentially expressed genes in jaw-deformed animals highlighted the "nervous system development" as a crucial pathway in MP. In particular, Zic2, a key gene for craniofacial morphogenesis in model species, was significantly down-regulated in MP-affected animals. Gene expression data revealed also a significant down-regulation of Sobp in deformed larvae. Our analyses, integrating transcriptomic and GWA methods, provide evidence for putative mechanisms underlying seabass jaw deformity

Increase in Carotid Intima-Media Thickness in Grade I Hypertensive Subjects

We studied 74 never-treated grade I hypertensive subjects aged 18 to 45 years and 20 normotensive control subjects to define the rate of increase in carotid intima-media thickness (IMT) and the potential role played by the various risk factors. IMT was assessed as mean IMT and as maximum IMT in the right and left common carotid artery, carotid bulb, and internal carotid artery at baseline and at the 5-year follow-up. In grade I hypertensive subjects, both mean IMT and mean of maximum IMT were significantly higher compared with baseline values. Compared with normotensive subjects, both mean IMT and maximum IMT increased significantly (at least P <0.01) in each carotid artery segment. The increase in cumulative IMT was 3.4-fold for mean IMT and 3.2-fold for mean of maximum IMT. Levels of mean arterial pressure at 24-hour monitoring and total serum cholesterol were factors potentially linked to the increment in mean IMT and mean of maximum IMT. Age was also relevant for the increment in mean of maximum IMT, whereas body mass index played some role in the increment of mean IMT. During the follow-up, mean IMT and mean of maximum IMT increased to a greater degree in white-coat hypertensive subjects (n=35) and sustained hypertensive subjects (n=39) than in normotensive control subjects. No differences were found between white-coat hypertensive subjects and sustained hypertensive subjects for both mean IMT and maximum IMT. Levels of mean arterial pressure at 24-hour monitoring affected the increment in IMT in both white-coat hypertensive subjects and sustained hypertensive subjects. In conclusion, our findings indicate that carotid IMT is greater and grows faster in white-coat hypertensive subjects than in normotensive subjects without significant differences with sustained hypertensive patients

la gestione del paziente iperteso nella pratica clinica

La presente pubblicazione raccoglie alcuni tra gli argomenti di maggiore interesse in tema di gestione e controllo della pressione arteriosa nella pratica clinica, proponendosi come un utile strumento di orientamento nelle difficoltà del percorso diagnostico terapeutico del paziente che quotidianamente il medico si trova a dover affrontare. L'obiettivo della pubblicazione è quello di offrire suggerimenti e raccomandazioni di buona pratica clinica suffragate dalle principali evidenze scientifiche disponibili in letteratura (Cardiology)

Il rischio cardiovascolare e la concentrazione plasmatica del colesterolo LDL: il ruolo dei Servizi Sanitari Regionali

Cardiovascular risk and increased plasma LDL cholesterol concentration: the role of the Regional Health ServiceThe relevance of hypercholesterolemia, as a risk factor for cardiovascular (CV) disease, requires urgent actions to detect and assist high-risk citizens/patients, thus reducing and/or avoiding future complications. This goal could be achieved through more widespread awareness of the problem within the Health System of the Veneto Region, joint efforts between clinical laboratories and clinicians in transmitting and interpreting informative laboratory reports, and deeper integration of hospital and community health services. Data from recent studies, recommendations of scientific societies and political-institutional guidelines helped in determining the number of patients in the Veneto Region, which may be suffering from clinical or biochemical conditions that impact on CV risk. These include hypercholesterolemia, which is particularly addressed in this paper, with special emphasis on FH (familial hypercholesterolemia), a chronic disease associated with very high CV risk

Warfarin, but not rivaroxaban, promotes the calcification of the aortic valve in ApoE-/- mice.

SummaryIntroductionVitamin K antagonists, such as warfarin, are known to promote arterial calcification through blockade of gamma‐carboxylation of Matrix‐Gla‐Protein. It is currently unknown whether other oral anticoagulants such as direct inhibitors of Factor Xa can have protective effects on the progression of aortic valve calcification.AimsTo compare the effect of warfarin and rivaroxaban on the progression of aortic valve calcification in atherosclerotic mice.Results42 ApoE−/− mice fed with Western‐type Diet (WTD) were randomized to treatment with warfarin (n = 14), rivaroxaban (n = 14) or control (n = 14) for 8 weeks. Histological analyses were performed to quantify the calcification of aortic valve leaflets and the development of atherosclerosis. The analyses showed a significant increase in valve calcification in mice treated with warfarin as compared to WTD alone (P = .025) or rivaroxaban (P = .005), whereas no significant differences were found between rivaroxaban and WTD (P = .35). Quantification of atherosclerosis and intimal calcification was performed on the innominate artery of the mice and no differences were found between the 3 treatments as far as atherogenesis and calcium deposition is concerned. In vitro experiments performed using bovine interstitial valve cells (VIC) showed that treatment with rivaroxaban did not prevent the osteogenic conversion of the cells but reduce the over‐expression of COX‐2 induced by inflammatory mediators.ConclusionWe showed that warfarin, but not rivaroxaban, could induce calcific valve degeneration in a mouse model of atherosclerosis. Both the treatments did not significantly affect the progression of atherosclerosis. Overall, these data suggest a safer profile of rivaroxaban on the risk of cardiovascular disease progression

An Exploratory Study of Field Failures

Field failures, that is, failures caused by faults that escape the testing phase leading to failures in the field, are unavoidable. Improving verification and validation activities before deployment can identify and timely remove many but not all faults, and users may still experience a number of annoying problems while using their software systems. This paper investigates the nature of field failures, to understand to what extent further improving in-house verification and validation activities can reduce the number of failures in the field, and frames the need of new approaches that operate in the field. We report the results of the analysis of the bug reports of five applications belonging to three different ecosystems, propose a taxonomy of field failures, and discuss the reasons why failures belonging to the identified classes cannot be detected at design time but shall be addressed at runtime. We observe that many faults (70%) are intrinsically hard to detect at design-time

A Ka-Band Receiver Front-End With Noise Injection Calibration Circuit for CubeSats Inter-Satellite Links

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Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's Disease

Abnormalities of intracellular Ca2+ homeostasis and signalling as well as the down-regulation of neurotrophic factors in several areas of the central nervous system and in peripheral tissues are hallmarks of Huntington\u2019s disease (HD). As there is no therapy for this hereditary, neurodegenerative fatal disease, further effort should be made to slow the progression of neurodegeneration in patients through the definition of early therapeutic interventions. For this purpose, molecular biomarker(s) for monitoring disease onset and/or progression and response to treatment need to be identified. In the attempt to contribute to the research of peripheral candidate biomarkers in HD, we adopted a multiplex real-time PCR approach to analyse the mRNA level of targeted genes involved in the control of cellular calcium homeostasis and in neuroprotection. For this purpose we recruited a total of 110 subjects possessing the HD mutation at different clinical stages of the disease and 54 sex- and agematched controls. This study provides evidence of reduced transcript levels of sarco-endoplasmic reticulum-associated ATP2A2 calcium pump (SERCA2) and vascular endothelial growth factor (VEGF) in peripheral blood mononuclear cells (PBMCs) of manifest and premanifest HD subjects. Our results provide a potentially new candidate molecular biomarker for monitoring the progression of this disease and contribute to understanding some early events that might have a role in triggering cellular dysfunctions in HD