Diagnosi molecolare di sindrome di Brugada in un giovane atleta mediante il sequenziamento di un pannello multigenico con tecniche di nuova generazione

Mutations in genes driving the molecular pathways that regulate myocardial functions can predispose to many independent cardiopathies and also to sudden cardiac death (SCD) even in asymptomatic subjects. The overlapping clinical signs or symptoms or even silent phenotypes make it difficult to diagnose these diseases, therefore the risk of undiagnosed disease could be high especially in young adults and athletes, which may then incur in SCD. We describe the case of a clinical asymptomatic eight-year-old child, practicing soccer game, who underwent a screening medical examination to undertake the path of an increasing physical activity to become a competitive athlete, where abnormal signs at ECG indicated a suspicion of an arrhythmogenic heart disease. Molecular screening analysis, to discriminate among the various predisposing gene alterations, was performed using a 75 gene-panel for arrhythmias customized in our laboratory. The child resulted carrier of a loss-of-function mutation in the SCN5A gene (c.1126C>T). About 25% of Brugada patients carry mutations in this gene coding for the cardiac sodium channel. The loss-of-function mutations in SCN5A gene induce alterations of sodium ion conduction in cardiomyocytes, compatible with the Brugada Syndrome. This case report highlights the importance of the implementation of a rapid, sensitive and wide molecular screening to shed light on possible genetic alterations present also in asymptomatic athletes with negative family history, which may often remain undiagnosed, thus exposed to high risk of sudden death

Left atrial trajectory impairment in hypertrophic cardiomyopathy disclosed by geometric morphometrics and parallel transport

The analysis of full Left Atrium (LA) deformation and whole LA deformational trajectory in time has been poorly investigated and, to the best of our knowledge, seldom discussed in patients with Hypertrophic Cardiomyopathy. Therefore, we considered 22 patients with Hypertrophic Cardiomyopathy (HCM) and 46 healthy subjects, investigated them by three-dimensional Speckle Tracking Echocardiography, and studied the derived landmark clouds via Geometric Morphometrics with Parallel Transport. Trajectory shape and trajectory size were different in Controls versus HCM and their classification powers had high AUC (Area Under the Receiving Operator Characteristic Curve) and accuracy. The two trajectories were much different at the transition between LA conduit and booster pump functions. Full shape and deformation analyses with trajectory analysis enabled a straightforward perception of pathophysiological consequences of HCM condition on LA functioning. It might be worthwhile to apply these techniques to look for novel pathophysiological approaches that may better define atrio-ventricular interaction

A pulsed nanosecond IR laser diode system to automatically test the Single Event Effects in the laboratory

Abstract A pulsed nanosecond IR laser diode system to automatically test the Single Event Effects in laboratory is described. The results of Single Event Latchup (SEL) test on two VLSI chips (VA_HDR64, 0.8 and 1.2 μm technology) are discussed and compared to those obtained with high-energy heavy ions at GSI (Darmstadt)

An update on the global use of risk assessment models and thromboprophylaxis in hospitalized patients with medical illnesses from the World Thrombosis Day steering committee: Systematic review and meta-analysis

INTRODUCTION Venous thromboembolism (VTE) is a leading cause of cardiovascular morbidity and mortality. The majority of VTE events are hospital-associated. In 2008, the Epidemiologic International Day for the Evaluation of Patients at Risk for Venous Thromboembolism in the Acute Hospital Care Setting (ENDORSE) multinational cross-sectional study reported that only approximately 40% of medical patients at risk of VTE received adequate thromboprophylaxis. METHODS In our systematic review and meta-analysis, we aimed at providing updated figures concerning the use of thromboprophylaxis globally. We focused on: (a) the frequency of patients with an indication to thromboprophylaxis according with individual models; (b) the use of adequate thromboprophylaxis; and (c) reported contraindications to thromboprophylaxis. Observational nonrandomized studies or surveys focusing on medically ill patients were considered eligible. RESULTS After screening, we included 27 studies from 20 countries for a total of 137 288 patients. Overall, 50.5% (95% confidence interval [CI]: 41.9-59.1, I$^{2}$ 99%) of patients had an indication to thromboprophylaxis: of these, 54.5% (95% CI: 46.2-62.6, I$^{2}$ 99%) received adequate thromboprophylaxis. The use of adequate thromboprophylaxis was 66.8% in Europe (95% CI: 50.7-81.1, I$^{2}$ 98%), 44.9% in Africa (95% CI: 31.8-58.4, I$^{2}$ 96%), 37.6% in Asia (95% CI: 25.7-50.3, I$^{2}$ 97%), 58.3% in South America (95% CI: 31.1-83.1, I$^{2}$ 99%), and 68.6% in North America (95% CI: 64.9-72.6, I$^{2}$ 96%). No major differences in adequate thromboprophylaxis use were found across risk assessment models. Bleeding, thrombocytopenia, and renal/hepatic failure were the most frequently reported contraindications to thromboprophylaxis. CONCLUSIONS The use of anticoagulants for VTE prevention has been proven effective and safe, but thromboprophylaxis prescriptions are still unsatisfactory among hospitalized medically ill patients around the globe with marked geographical differences

Long-term outcome of epilepsy in patients with prader–willi syndrome

Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy

Extensive soot compaction by cloud processing from laboratory and field observations

Soot particles form during combustion of carbonaceous materials and impact climate and air quality. When freshly emitted, they are typically fractal-like aggregates. After atmospheric aging, they can act as cloud condensation nuclei, and water condensation or evaporation restructure them to more compact aggregates, affecting their optical, aerodynamic, and surface properties. Here we survey the morphology of ambient soot particles from various locations and different environmental and aging conditions. We used electron microscopy and show extensive soot compaction after cloud processing. We further performed laboratory experiments to simulate atmospheric cloud processing under controlled conditions. We find that soot particles sampled after evaporating the cloud droplets, are significantly more compact than freshly emitted and interstitial soot, confirming that cloud processing, not just exposure to high humidity, compacts soot. Our findings have implications for how the radiative, surface, and aerodynamic properties, and the fate of soot particles are represented in numerical models

Methodological approach for the assessment of ultrasound reproducibility of cardiac structure and function: a proposal of the study group of Echocardiography of the Italian Society of Cardiology (Ultra Cardia SIC) Part I

When applying echo-Doppler imaging for either clinical or research purposes it is very important to select the most adequate modality/technology and choose the most reliable and reproducible measurements. Quality control is a mainstay to reduce variability among institutions and operators and must be obtained by using appropriate procedures for data acquisition, storage and interpretation of echo-Doppler data. This goal can be achieved by employing an echo core laboratory (ECL), with the responsibility for standardizing image acquisition processes (performed at the peripheral echo-labs) and analysis (by monitoring and optimizing the internal intra- and inter-reader variability of measurements). Accordingly, the Working Group of Echocardiography of the Italian Society of Cardiology decided to design standardized procedures for imaging acquisition in peripheral laboratories and reading procedures and to propose a methodological approach to assess the reproducibility of echo-Doppler parameters of cardiac structure and function by using both standard and advanced technologies. A number of cardiologists experienced in cardiac ultrasound was involved to set up an ECL available for future studies involving complex imaging or including echo-Doppler measures as primary or secondary efficacy or safety end-points. The present manuscript describes the methodology of the procedures (imaging acquisition and measurement reading) and provides the documentation of the work done so far to test the reproducibility of the different echo-Doppler modalities (standard and advanced). These procedures can be suggested for utilization also in non referall echocardiographic laboratories as an "inside" quality check, with the aim at optimizing clinical consistency of echo-Doppler data

Outcomes of pregnancies after kidney transplantation: lessons learned from CKD. A comparison of transplanted, nontransplanted chronic kidney disease patients and low-risk pregnancies: a multicenter nationwide analysis.

BACKGROUND: Kidney transplantation (KT) may restore fertility in CKD. The reasons why materno-foetal outcomes are still inferior to the overall population are only partially known. Comparison with the CKD population may offer some useful insights for management and counselling.Aim of this study was to analyse the outcomes of pregnancy after KT, compared with a large population of non-transplanted CKD patients and with low-risk control pregnancies, observed in Italy the new millennium. METHODS: We selected 121 live-born singletons after KT (Italian study group of kidney in pregnancy, national coverage about 75%), 610 live-born singletons in CKD and 1418 low-risk controls recruited in 2 large Italian Units, in the same period (2000-2014). The following outcomes were considered: maternal and foetal death; malformations; preterm delivery; small for gestational age baby (SGA); need for the neonatal intensive care unit (NICU); doubling of serum creatinine or increase in CKD stage. Data were analysed according to kidney diseases, renal function (staging according to CKD-EPI), hypertension, maternal age, partity, ethnicity. RESULTS: Materno-foetal outcomes are less favourable in CKD and KT as compared with the low-risk population. CKD stage and hypertension are important determinants of results. KT patients with e-GFR >90 have worse outcomes compared with CKD stage 1 patients; the differences level off when only CKD patients affected by glomerulonephritis or systemic diseases ('progressive CKD') are compared with KT. In the multivariate analysis, risk for preterm and early-preterm delivery was linked to CKD stage (2-5 versus 1: RR 3.42 and 3.78) and hypertension (RR 3.68 and 3.16) while no difference was associated with being a KT or a CKD patient. CONCLUSIONS: The materno-foetal outcomes in patients with kidney transplantation are comparable with those of nontransplanted CKD patients with similar levels of kidney function impairment and progressive and/or immunologic kidney diseas

Rendimiento de cultivares de arveja (Pisum sativum, L) en diferentes ambientes de la República Argentina - Campaña 2018-2019

Se estima que la población mundial para 2050 llegará a las 9.000 millones de personas, por lo que la demanda de alimentos será creciente y las legumbres juegan un papel fundamental en la dieta de los países que más población tienen, como India y China. Dentro de las legumbres, arveja es la especie de menor precio en relación a lenteja, garbanzo o porotos. En este sentido, cuando se hace necesario importar alimentos, las arvejas son las preferidas. El área de siembra de arveja en Argentina no se ha incrementado, en gran parte por el bajo precio en 2018 en relación a otros cultivos de invierno y, por otro lado, por el escaso o nulo consumo interno (Vita y Prieto, 2018). Sin embargo, dado los precios actuales de arveja verde (alrededor de 250 U$S/tn), hacen mucho más interesante la posibilidad de incluirla en los sistemas de producción. Sumado al beneficio del margen de los planteos agrícolas, una vía de uso diferente a la exportación o al consumo humano directo, es su inclusión en las dietas forrajeras destinadas a alimentar bovinos de carne o de leche, como así también porcinos o aves. Abundan en la bibliografía internacional los trabajos donde se demuestra que el uso de arveja en reemplazo parcial de otras harinas proteicas, como la de soja y fuentes energéticas como el maíz, conducen a ganancias de peso similares o superiores a los testigos (Lardy et al, 2009; Fendrick et al, 2005; Soto Navarro et al, 2012; Pasinato et al, 2019; Landblom & Poland, 1997; Reed et al, 2004; Birkelo et al, 2000). Por todo esto, es importante conocer la adaptación de los diferentes materiales disponibles en el mercado a los ambientes productivos de Argentina.EEA PergaminoFil: Prieto, Gabriel María. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Oliveros. Agencia de Extensión Rural Arroyo Seco; ArgentinaFil: Appella, Cristian Manuel. Instituto Nacional de Tecnología Agropecuaria (INTA). Chacra Experimental Integrada Barrow; ArgentinaFil: Avila, F. CREA. Consorcio Regional de Experimentación Agrícola; ArgentinaFil: Bracco, V. Universidad Nacional del Noroeste de la Provincia de Buenos Aires (UNNOBA). Sede Junín; ArgentinaFil: Brassesco, Raul Francisco. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná. Agencia de Extensión Rural Victoria; ArgentinaFil: Buschittari, D. Agricultores Federados Argentinos (AFA). Sociedad Cooperativa Limitada (SCL); ArgentinaFil: Casciani, Andres. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Oliveros. Agencia de Extensión Rural Arroyo Seco; ArgentinaFil: Espósito, María Andrea. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Oliveros; ArgentinaFil: Fariña, Leandro. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Agencia Regional de Desarrollo Productivo; ArgentinaFil: Fekete, Ana Cecilia. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta; ArgentinaFil: Frolla, Franco Daniel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Bordenave; ArgentinaFil: Gallego, Juan José. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Valle Inferior de Río Negro; ArgentinaFil: Introna, Jimena. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Pergamino. Sección Agronomía; ArgentinaFil: Lavilla, M. Universidad Nacional del Noroeste de la Provincia de Buenos Aires (UNNOBA). Sede Junín; ArgentinaFil: Maggio, J.C. Agrar del Sur; ArgentinaFil: Prece, Natalia María. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Pergamino. Sección Agronomía; ArgentinaFil: Maggio, María Elisa. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta; ArgentinaFil: Mariotti Martinez, Jorge Alberto. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Famaillá; ArgentinaFil: Martinez, S. Universidad Nacional del Noroeste de la Provincia de Buenos Aires (UNNOBA). Sede Junín; ArgentinaFil: Orliacq, A. Ministerio de Agroindustria de la Provincia de Buenos Aires. Chacra Experimental Pasman; ArgentinaFil: Vallejo, Maximiliano. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná. Agencia de Extensión Rural Victoria; ArgentinaFil: Zgrablich, A. Universidad Nacional de Córdoba (UNC); Argentin