Generalized AdS-Lorentz deformed supergravity on a manifold with boundary

The purpose of this paper is to explore the supersymmetry invariance of a particular supergravity theory, which we refer to as D=4 generalized AdS-Lorentz deformed supergravity, in the presence of a non-trivial boundary. In particular, we show that the so-called generalized minimal AdS-Lorentz superalgebra can be interpreted as a peculiar torsion deformation of osp(4|1), and we present the construction of a bulk Lagrangian based on the aforementioned generalized AdS-Lorentz superalgebra. In the presence of a non-trivial boundary of space-time, that is when the boundary is not thought of as set at infinity, the fields do not asymptotically vanish, and this has some consequences on the invariances of the theory, in particular on supersymmetry invariance. In this work, we adopt the so-called rheonomic (geometric) approach in superspace and show that a supersymmetric extension of a Gauss-Bonnet like term is required in order to restore the supersymmetry invariance of the theory. The action we end up with can be recast as a MacDowell-Mansouri type action, namely as a sum of quadratic terms in the generalized AdS-Lorentz covariant super field-strengths.Comment: 32 pages. Version accepted for publication in The European Physical Journal Plus (EPJP), Eur. Phys. J. Plus (2018) 133: 514. The final publication is available at Springer via https://doi.org/10.1140/epjp/i2018-12335-0. arXiv admin note: text overlap with arXiv:1802.0660

SUPERSPACE COMPUTATIONS IN SUSY AND SUGRA THEORIES

In this thesis, we present two current topics in theoretical high energy physics: We construct the Lagrangian of a deformed supergravity theory on a manifold with a non-trivial spacetime boundary by using the geometric (or rheonomic) approach and we discuss and analyze the supersymmetry invariance of the theory. Separately, we compute some scattering amplitudes in a supersymmetric conformal field theory with the Superspace formalism and Feynman superdiagrams. These two different topics conceptually achieve a contact point through the so-called AdS/CFT duality, which is actually one of the most flourishing fields in theoretical physics today. In the supergravity limit of string theory, this duality outlines a one-to-one correspondence between operators in the CFT on the boundary and the fields of the supergravity theory in the bulk. It could constitute a possible theoretical path towards the building of a theory of quantum gravity, which is the last piece needed to complete the puzzle of unified fundamental interactions. Precisely, we first give an overview of some aspects about supersymmetry, supergravity and AdS/CFT duality, in order to introduce the main two parts of the thesis: On one hand, the study of a particular supergravity theory, which will be referred to as D = 4 generalized AdS-Lorentz deformed supergravity theory, in the presence of a non-trivial boundary (that is when the boundary of spacetime is not thought as set at infinity); on the other hand, the computation of a 1-loop MHV reduced amplitude in N = 2 SCQCD (in D = 4). In the first topic discussed in this thesis, supersymmetry is understood as a local symmetry; indeed, we are dealing with a supergravity theory. On the converse, in the second part of this dissertation, supersymmetry is a global symmetry

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

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

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis. RESULTS: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20 years, respectively. Restricted estimated mean survival at 20 years follow-up was 19.6 years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age < 2 years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death. CONCLUSIONS: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis. RESULTS: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20years, respectively. Restricted estimated mean survival at 20years follow-up was 19.6years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age <2years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death. CONCLUSIONS: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death. KEYWORDS: Children; Congenital heart defect; Hypertrophic cardiomyopathy; Noonan syndrome; RASopathie