Alternative somatic cell count traits exploitable in genetic selection for mastitis resistance in Italian Holsteins

The aim of the present study was to characterize alternative somatic cell count (SCC) traits that could be exploited in genetic selection for mastitis resistance. Data were from 66,407 first-parity Holsteins in 404 herds. Novel SCC traits included average somatic cell score (SCS, log-transformation of SCC) in early lactation (SCS_150), standard deviation of SCS of the entire lactation (SCS_SD), the presence of at least one test-day (TD) SCC >400,000 cells/mL in the lactation, and the ratio of number of TD SCC >400,000 cells/mL to total number of TD in the lactation. Novel traits and lactation-mean SCS (SCS_LM) were analyzed using linear mixed or logistic regression models, including month of calving, year of calving, number of TD, and milk yield as fixed effects, and herd and residual as random terms. A multitrait linear animal model was applied to a random subset of 152 herds (n = 22,695 cows) to assess heritability of and genetic correlations between SCC traits. Alternative SCC traits were affected by the environmental factors included in the model; in particular, results suggested a seasonal effect and a tendency toward an improvement of the udder health status in the last years. Association was also found between novel SCC traits and milk production. Alternative SCC traits exhibited coefficients of additive genetic variation that were similar to or larger than that of traditional SCS_LM. Heritability of novel SCC traits was smaller than heritability of SCS_LM (0.126 \ub1 0.014), ranging from 0.044 \ub1 0.008 (SCS_SD) to 0.087 \ub1 0.010 (SCS_150). Genetic correlations between SCC traits ranged from 0.217 \ub1 0.096 (SCS_150 and SCS_SD) to 0.969 \ub1 0.010 (SCS_LM and SCS_150). Alternative SCC traits exhibited additive genetic variation that is potentially exploitable in breeding programs of Italian Holstein population to improve resistance to mastitis

Pulmonary arterial hypertension in interferonophaties: a case report and a review of the literature

Background: Pulmonary arterial hypertension consists in an increase of mean pulmonary arterial pressure (PAPm 65 25 mmHg), and may lead to right ventricular failure. Pulmonary arterial hypertension can arise in several disorders, encompassing inflammatory conditions and connective tissue diseases. The occurrence of pulmonary arterial hypertension has recently been reported in monogenic interferonopathies and in systemic lupus erythematosus, highlighting the pathogenic role of type I interferons and paving the way to therapies aimed at inhibiting interferon signaling. Case: We describe a 17-year-old boy with DNase II deficiency, presenting a clinical picture with significant overlap with systemic lupus erythematosus. During treatment with the Janus kinase inhibitor ruxolitinib, he developed pulmonary arterial hypertension, raising the question whether it could represent a sign of insufficient disease control or a drug-related adverse event. The disease even worsened after drug withdrawal, but rapidly improved after starting the drug again at higher dosage. Summary and conclusion: Pulmonary arterial hypertension can complicate type I interferonopathies. We propose that ruxolitinib was beneficial in this case, but the wider role of Janus kinase inhibitors for the treatment of pulmonary arterial hypertension is not clear. For this reason, a strict cardiologic evaluation must be part of the standard care of subjects with interferonopathies, especially when Janus kinase inhibitors are prescribed

PVT properties of an alternative biofuel: dimethyl ether

Dimethyl ether is an important chemical material and it has many engineering applications. It is a clean and economical alternative fuel and an ozone-friendly refrigerant. In this work, its PVT properties have been object of study. In particular, the experimental work was performed both in the two-phase region and in the superheated vapor region phase by means of the isochoric method. The isochoric measurements were carried out at temperatures from 219 K to 363 K and at pressures from 22 kPa up to 1,740 kPa. A total of 159 points, both in the two phase (71 points) and in the superheated vapor region (88 points) were obtained. The present experimental PVT data contribute to the deeper knowledge of the behaviour of the fluid both in the superheated vapour and in the saturation pressure region and to the development of a new equation of state

Correction to "New Measurements of the Apparent Thermal Conductivity of Nanofluids and Investigation of Their Heat Transfer Capabilities"

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Il bambino con il batticuore in Pronto Soccorso: dalla teoria alla pratica andata e ritorno

Palpitations are a common cause of complaint in the paediatric population and can be a reason of serious concern for children, adolescents and parents. Despite this, palpitations are known to have a benign prognosis, but still are cause of referral to the Emergency Unit (EU). The aim of the present retrospective study was to make a review of prevalence and long-term prognosis of emergency accesses for palpitations between 2009-2015. The study was conducted in the EU of the Paediatric Hospital \u201cBurlo Garofolo\u201d, Trieste, Italy. Despite a low prevalence of access to the EU, namely 0.1%, 96 patients in a time span of 7 years, 16.7% of patients (n = 16) had an underlying arrhythmic cause for the symptom. The presence of a heart rate above 150 beats per minute was highly suggestive of cardiac arrhythmia, more often of paroxysmal supraventricular tachycardia. As far as the long-term follow-up is concerned, 10.4% of patients (n = 10) received medical therapy and 6.2% (n = 6) underwent transcatheter ablation for supraventricular arrhythmia. In conclusion, palpitations turned out to be an infrequent cause of access to the EU. Nonetheless, 1 out of 6 patients requires long term medical therapy or percutaneous intervention

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD

A prospective survey in European Society of Cardiology member countries of atrial fibrillation management: baseline results of EURO bservational Research Programme Atrial Fibrillation (EORP-AF) Pilot General Registry

Aims: Given the advances in atrial fibrillation (AF) management and the availability of new European Society of Cardiology (ESC) guidelines, there is a need for the systematic collection of contemporary data regarding the management and treatment of AF in ESC member countries. Methods and results: We conducted a registry of consecutive in- and outpatients with AF presenting to cardiologists in nine participating ESC countries. All patients with an ECG-documented diagnosis of AF confirmed in the year prior to enrolment were eligible. We enroled a total of 3119 patients from February 2012 to March 2013, with full data on clinical subtype available for 3049 patients (40.4% female; mean age 68.8 years). Common comorbidities were hypertension, coronary disease, and heart failure. Lone AF was present in only 3.9% (122 patients). Asymptomatic AF was common, particularly among those with permanent AF. Amiodarone was the most common antiarrhythmic agent used (~20%), while beta-blockers and digoxin were the most used rate control drugs. Oral anticoagulants (OACs) were used in 80% overall, most often vitamin K antagonists (71.6%), with novel OACs being used in 8.4%. Other antithrombotics (mostly antiplatelet therapy, especially aspirin) were still used in one-third of the patients, and no antithrombotic treatment in only 4.8%. Oral anticoagulants were used in 56.4% of CHA 2DS2-VASc = 0, with 26.3% having no antithrombotic therapy. A high HAS-BLED score was not used to exclude OAC use, but there was a trend towards more aspirin use in the presence of a high HAS-BLED score. Conclusion: The EURObservational Research Programme Atrial Fibrillation (EORP-AF) Pilot Registry has provided systematic collection of contemporary data regarding the management and treatment of AF by cardiologists in ESC member countries. Oral anticoagulant use has increased, but novel OAC use was still low. Compliance with the treatment guidelines for patients with the lowest and higher stroke risk scores remains suboptimal. © The Author 2013