Network communities within and across borders

We investigate the impact of borders on the topology of spatially embedded networks. Indeed territorial subdivisions and geographical borders significantly hamper the geographical span of networks thus playing a key role in the formation of network communities. This is especially important in scientific and technological policy-making, highlighting the interplay between pressure for the internationalization to lead towards a global innovation system and the administrative borders imposed by the national and regional institutions. In this study we introduce an outreach index to quantify the impact of borders on the community structure and apply it to the case of the European and US patent co-inventors networks. We find that (a) the US connectivity decays as a power of distance, whereas we observe a faster exponential decay for Europe; (b) European network communities essentially correspond to nations and contiguous regions while US communities span multiple states across the whole country without any characteristic geographic scale. We confirm our findings by means of a set of simulations aimed at exploring the relationship between different patterns of cross-border community structures and the outreach index.Comment: Scientific Reports 4, 201

Elements of Psychocardiology in the Psychosocial Handling of Adults with Congenital Heart Disease

When it comes to the role of the clinical psychology in the cardiac settings, or psychocardiology, there is often a focus on acquired cardiac illnesses in the rehabilitation settings. However, the increase of adults with congenital heart disease due to technological advances in cardiology and cardiac surgery have created a new emergency. It is thus necessary to reflect upon the elements of psychocardiology adapting them to this new population, also when it comes to interventional hospital settings of cardiology and cardiac surgery. This perspective article is an effort in this direction

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort

Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p < 0.0001). The overall detection rate for patients with positive family history was 84%, and 90.5% in patients with early disease onset. In our study NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective

Transcatheter Closure of Perimembranous Ventricular Septal Defects

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Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improved patient outcomes by providing access to targeted pharmacological treatments like celiprolol and enhancing the management of vEDS-related complications. Herein, we report a patient harboring a novel de novo COL3A1 missense variant, in which the diagnosis was only possible belatedly due to delayed referral for genetic evaluation. The patient developed pulmonary complications, aneurysms, and vascular malformations, and died at the age of 26 years due to massive pulmonary bleeding

Transcatheter closure of atrial septal defect in young children Results and follow-up

AbstractObjectivesThis study sought to analyze the safety, efficacy, and follow-up results of percutaneous closure of secundum atrial septal defect (ASD) in young children.BackgroundResults of ASD transcatheter closure in adults are widely reported but there are no large published series concerning young children.MethodsBetween December 1996 and February 2002, 48 of 553 patients percutaneously treated at our institution were children age ≤5 years. Indications for closure were: elective closure in 32 patients; frequent respiratory infections in 8; failure to thrive in 2; liver transplantation in 5; and a fenestrated Fontan in 1. The procedure was carried out under general anesthesia with fluoroscopy and transesophageal control. Two different devices were used: 1) the CardioSEAL/StarFLEX (CS/SF) and 2) the Amplatzer septal occluder (ASO). Basal physical examinations and echocardiograms were performed prior to the procedure and at follow-ups (1, 6, and 12 months, and yearly thereafter).ResultsThe mean age at closure was 3.6 ± 1.3 years. A CS/SF was used in 10 subjects; an ASO was used in 38 patients. No deaths or immediate major complications occurred. The total occlusion rate was 87% at procedure, rising to 94% at discharge. The mean follow-up was 18 ± 14 months. No midterm major or minor complications occurred. The occlusion rate rose to 100% at 12 months of follow-up. Symptomatic patients improved significantly.ConclusionsIn the current era and in experienced hands, ASD closure can be performed safely and successfully, even in very young children

Echocardiographic Assessment after Surgical Repair of Tetralogy of Fallot

Surgical correction of Tetralogy of Fallot is still one of the most frequently performed intervention in pediatric cardiac surgery, and in many cases it is far from being a complete and definitive correction. It is rather an excellent palliation that solves the problem of cyanosis but predisposes the patients to medical and surgical complications during follow-up. The decision-making process regarding the treatment of late sequel are among the most discussed topics in adult congenital cardiology. In postoperative Fallot patients, echocardiography is used as the first method of diagnostic imaging and currently allows both a qualitative observation of the anatomical alterations and a detailed quantification of right ventricular volumes and function, of the right ventricular outflow tract, and of the pulmonary valve and pulmonary arteries. The literature introduced many quantitative echocardiographic criteria useful for the understanding of the pathophysiological mechanisms involving the right ventricle and those have made much more objective any decision-making processes

Right ventricular restoration during pulmonary valve implantation in adults with congenital heart disease☆

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