37 research outputs found

    Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

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    Background: RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described. The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. Methods: A retrospective, multicentric observational study (CArdiac Rasopathy NETwork—CARNET study) was carried out. Clinical, surgical, and genetic data of the patients who were followed until December 2019 were collected. Results: Forty‐five patients out of 440 followed in CARNET centers had ACDs. Noonan Syndrome (NS), NS Multiple Lentigines (NSML) and CardioFacioCutaneous Syndrome (CFCS) were present in 36, 5 and 4 patients, respectively. Median age at last follow‐up was 20.1 years (range 6.9–47 years). Different ACDs were reported, including mitral and aortic valve dysfunction, ascending and descending aortic arch anomalies, coronary arteries dilation, enlargement of left atrial appendage and isolated pulmonary branches diseases. Five patients (11%) underwent cardiac surgery and one of them underwent a second intervention for mitral valve replacement and severe pericardial effusion. No patients died in our cohort until December 2019. Conclusions: Patients with RASopathies present a distinct CHD spectrum. Present data suggest that also ACDs must be carefully investigated for their possible impact on the clinical outcome. A careful longitudinal follow up until the individuals reach an adult age is recommended

    The Italian fund for Alzheimer's and other dementias: strategies and objectives to face the dementia challenge

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    The Italian Fund for Alzheimer's and other dementias was approved and signed in December 2021. The Fund is financed with 15 million euros in three years. The main goal is to provide new strategies in the field of dementia with a Public Health perspective. The Fund includes eight main activities that will be monitored and supervised by the Italian National Institute of Health: 1) development of a guideline for the assessment, management and support for people with dementia and their families/carers; 2) updating of the Dementia National Plan (DNP); 3) implementation of the documents of the DNP; 4) conducting surveys dedicated to the Italian Dementia Services; 5) promotion of dementia prevention strategies; 6) training strategies for healthcare professionals, families and caregivers; 7) creation of a National Electronic Record for Dementia; 8) evaluation and monitoring of activities promoted by Regions and Autonomous Provinces in the field of dementia, together with the dementia National Permanent Table. These activities are outlined in detail in the present paper

    Lo scavo del portico orientale (2007-2008)

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    Anfore fenicie e puniche con contenuti alimentari dai rinvenimenti di Michel Cassien a Nora

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    The Touring Club de France directed by Michel Cassien effected six extensive campaigns of underwater exploration and recovery between 1978 and 1984, in the waters around the Nora peninsula, Pula (ca); the complete edition and re-examination of the investigations, however, only took place recently. Amongst the large amount of recovered material, mainly transport containers and ceramic tableware, in an extraordinary state of preservation, we intend, in this paper, to deal with a particularly interesting class, namely that of the Phoenician and Punic amphorae used for the transport and storage of foodstuffs. Thanks to an integrated study of the reports and maps edited by Cassien, it has been possible to reliably reconstruct the positions of the recovered amphorae. The repositioning of the finds on a new map, together with an initial chrono-typological analysis of them, presents an extremely interesting context, which is fundamental for a better understanding of the trade flows that affected Nora between the early Phoenician and the late Punic periods

    Artificial Insemination in Sheep with Fresh Diluted Semen: Comparison Between Two Different Semen Extenders and Management Protocols

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    Timed artificial insemination (TAI) is a very important tool for reproductive programs in small ruminants, providing synchronized inseminations and more efficient use of superior males. The objectives of this study were to investigate the viability of different breeding protocols under sub-optimal conditions and out of the breeding season, and to compare the outcome of TAI in sheep with two different semen extenders. Ewes (n=575) were subjected to estrous synchronization by intravaginal sponges containing 30 mg of medroxyprogesterone acetate and PMSG. Ewes were divided into 5 groups according to the semen extender employed and to the breeding protocol: 1) egg yolk citrate AI reinforced by ram (EYC-RR); 2) Andromed AI reinforced by ram (AND-RR), where rams joined the flocks 3 hours after AI; 3) egg yolk citrate AI without ram exposition (EYC); 4) Andromed AI without ram exposition (AND). In all these groups vaginal AIs were performed 56±2 hours from sponge removal and PMSG injection; 5) natural mating (RAM) where rams were introduced 48 hours following sponge removal and PMSG injection. Pregnancy rate, parturition rate, and prolificacy were significantly higher (p<0.05) in the EYC-RR and AND-RR groups than in the EYC and AND groups. The lambing rate was not different between groups. No statistical differences were observed between breeding farms or inseminating rams. This study showed that TAI with fresh semen diluted either with egg yolk citrate or with AndroMed could be an effective and feasible tool to increase lamb production and improve genetic merits of the sheep population out of the breeding season

    Electrical Properties of Rapid Thermal Annealing Induced Defects in Silicon

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