Primordial Nucleosynthesis: from precision cosmology to fundamental physics

We present an up-to-date review of Big Bang Nucleosynthesis (BBN). We discuss the main improvements which have been achieved in the past two decades on the overall theoretical framework, summarize the impact of new experimental results on nuclear reaction rates, and critically re-examine the astrophysical determinations of light nuclei abundances. We report then on how BBN can be used as a powerful test of new physics, constraining a wide range of ideas and theoretical models of fundamental interactions beyond the standard model of strong and electroweak forces and Einstein's general relativity.Comment: 148 pages, 66 figures, revised version accepted by Physics Report

High Energy Neutrinos with a Mediterranean Neutrino Telescope

The high energy neutrino detection by a km^3 Neutrino Telescope placed in the Mediterranean sea provides a unique tool to both determine the diffuse astrophysical neutrino flux and the neutrino-nucleon cross section in the extreme kinematical region, which could unveil the presence of new physics. Here is performed a brief analysis of possible NEMO site performances.Comment: 4 pages, 3 figures, Proceedings of the 30th ICRC 200

Disentangling neutrino-nucleon cross section and high energy neutrino flux with a km^3 neutrino telescope

The energy--zenith angular event distribution in a neutrino telescope provides a unique tool to determine at the same time the neutrino-nucleon cross section at extreme kinematical regions, and the high energy neutrino flux. By using a simple parametrization for fluxes and cross sections, we present a sensitivity analysis for the case of a km^3 neutrino telescope. In particular, we consider the specific case of an under-water Mediterranean telescope placed at the NEMO site, although most of our results also apply to an under-ice detector such as IceCube. We determine the sensitivity to departures from standard values of the cross sections above 1 PeV which can be probed independently from an a-priori knowledge of the normalization and energy dependence of the flux. We also stress that the capability to tag downgoing neutrino showers in the PeV range against the cosmic ray induced background of penetrating muons appears to be a crucial requirement to derive meaningful constraints on the cross section.Comment: 10 pages, 28 figure

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Background: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation: We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of both PCDH11Y and NLGN4Y located in the Y chromosome in the same patient. Conclusions: We hypothesized a functional complementary role of PCDH11Y and NLGN4Y within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of PCDH11Y that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission NLGN4Y-linked

Using BBN in cosmological parameter extraction from CMB: a forecast for Planck

Data from future high-precision Cosmic Microwave Background (CMB) measurements will be sensitive to the primordial Helium abundance $Y_p$. At the same time, this parameter can be predicted from Big Bang Nucleosynthesis (BBN) as a function of the baryon and radiation densities, as well as a neutrino chemical potential. We suggest to use this information to impose a self-consistent BBN prior on $Y_p$ and determine its impact on parameter inference from simulated Planck data. We find that this approach can significantly improve bounds on cosmological parameters compared to an analysis which treats $Y_p$ as a free parameter, if the neutrino chemical potential is taken to vanish. We demonstrate that fixing the Helium fraction to an arbitrary value can seriously bias parameter estimates. Under the assumption of degenerate BBN (i.e., letting the neutrino chemical potential $\xi$ vary), the BBN prior's constraining power is somewhat weakened, but nevertheless allows us to constrain $\xi$ with an accuracy that rivals bounds inferred from present data on light element abundances.Comment: 14 pages, 4 figures; v2: minor changes, matches published versio

Analisi spettrale parametrica e di polarizzazione applicate agli eventi sismici registrati sul vulcano sottomarino Marsili

Nel luglio 2006, nell’ambito della campagna di ricerche PRO.ME.TH.E.US (PROgram of Mediterranean Exploration for THermal Energy Use), l’OBS Lab dell’Osservatorio Geofisico di Gibilmanna dell’INGVCNT, ha deposto un prototipo di OBS/H sulla sommità del vulcano sottomarino Marsili (39° 16,383’ lat. Nord, 14° 23,588’ long. Est.) alla profondità di 790 m (D’Anna et alii, 2007); lo strumento ha registrato l’attività sismica del vulcano dal 12 al 21 luglio 2006. L’OBS/H era equipaggiato con un sismometro Trillium 40s della Nanometrics e un idrofono OAS E-2PD. La digitalizzazione è stata effettuata da un convertitore A/D a 21 bit a quattro canali (SEND Geolon MLS) e i segnali sono stati campionati ad una frequenza di 200 c/s (D’Anna et alii, 2007).In una prima fase di studio D’Alessandro et alii (2006) hanno individuato, nel segnale acquisito, la presenza di una elevata attività sismica (oltre 1000 eventi registrati in 9 giorni) legata probabilmente all’attività del vulcano Marsili oltre a eventi tettonici e forme d’onda transitorie di origine non sismica. In base ad analisi spettrali non parametriche, l’attività registrata era stata suddivisa in: eventi noti in letteratura come VT-B (Volcanic-Tectonic event, type B) che si manifestano in sciami, eventi ad alta frequenza legati a probabile attività idrotermale ed eventi classificabili come “Tornillo” o LPE (Long- Period Event) probabilmente generati da fenomeni di risonanza legati ad attività magmatica (Chouet, 1996). Al fine di caratterizzare con idonei parametri quantitativi i segnali appartenenti ai gruppi individuati e fare delle ipotesi sui diversi meccanismi sorgente, sono state successivamente eseguite analisi spettrali parametriche e di polarizzazione, che sono oggetto di questo lavoro. Rispetto all’analisi di Fourier, l’analisi spettrale parametrica permette di ottenere una migliore risoluzione, quando il segnale da analizzare presenta breve durata. Noi abbiamo applicato tale tipo di analisi agli eventi classificabili come Tornillo. Tali eventi sono generalmente quasi-monocromatici e presentano un inizio di tipo impulsivo, seguito da un lento e graduale decadimento in ampiezza. La descrizione delle frequenze di oscillazione di un Tornillo è di fondamentale importanza per stimare le caratteristiche della sorgente. Un metodo ad alta risoluzione spettrale basato sulle proprietà di un sistema dinamico è stato sviluppato da Kumazawa et alii (1990). Questo metodo chiamato Sompi è stato successivamente esteso da Yokoyama et alii (1997) alle equazioni AR non omogenee. Noi abbiamo utilizzato quest’ultimo metodo, implementando la procedura di Nakano et alii (1998), per analizzare i Tornillo ed attribuirgli una frequenza complessa.L’analisi di polarizzazione, risolvendo il problema agli autovalori associato alla matrice di covarianza dei segnali relativi alle tre componenti del moto, permette di definire l’orientazione e la lunghezza degli assi dell’ellissoide di polarizzazione associato alla finestra temporale del segnale sismico presa in esame. Al fine di migliorare la stima degli attributi di polarizzazione, la matrice di covarianza è stata corretta per la presenza di rumore sismico, sotto l’ipotesi di stocasticità e stazionarietà del rumore stesso. L’analisi di polarizzazione è stata applicata a oltre 200, tra gli eventi VT-B con maggiore energia, per individuare attraverso la direzione di polarizzazione delle fasi P (linearmente polarizzate) eventuali direzioni prevalenti di provenienza e quindi l’esistenza e ubicazione di volumi sismogenetici

Testing the gamma-ray burst variability/peak luminosity correlation on a Swift homogeneous sample

We test the gamma-ray burst correlation between temporal variability and peak luminosity of the $\gamma$-ray profile on a homogeneous sample of 36 Swift/BAT GRBs with firm redshift determination. This is the first time that this correlation can be tested on a homogeneous data sample. The correlation is confirmed, as long as the 6 GRBs with low luminosity (<5x10^{50} erg s^{-1} in the rest-frame 100-1000 keV energy band) are ignored. We confirm that the considerable scatter of the correlation already known is not due to the combination of data from different instruments with different energy bands, but it is intrinsic to the correlation itself. Thanks to the unprecedented sensitivity of Swift/BAT, the variability/peak luminosity correlation is tested on low-luminosity GRBs. Our results show that these GRBs are definite outliers.Comment: Accepted for Publication in MNRAS. 10 pages, 5 figures, 3 table

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review

This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.R379H) variant while the second was carrier of SCN8A (p.E936K) variant, both involving the pore loop of the two channels. The results of this study suggest that the neurodevelopmental disorders without overt epilepsy of both patients can be the consequences of loss of function of Nav1.2/Nav1.6 channels. Notably, the SCN2A variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the SCN8A variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability

Cancer‐Related Cachexia: The Vicious Circle between Inflammatory Cytokines, Skeletal Muscle, Lipid Metabolism and the Possible Role of Physical Training

Cachexia is a multifactorial and multi‐organ syndrome that is a major cause of morbidity and mortality in late‐stage chronic diseases. The main clinical features of cancer‐related cachexia are chronic inflammation, wasting of skeletal muscle and adipose tissue, insulin resistance, anorexia, and impaired myogenesis. A multimodal treatment has been suggested to approach the multifactorial genesis of cachexia. In this context, physical exercise has been found to have a general effect on maintaining homeostasis in a healthy life, involving multiple organs and their metabolism. The purpose of this review is to present the evidence for the relationship between inflammatory cytokines, skeletal muscle, and fat metabolism and the potential role of exercise training in breaking the vicious circle of this impaired tissue cross‐talk. Due to the wide‐ranging effects of exercise training, from the body to the behavior and cognition of the individual, it seems to be able to improve the quality of life in this syndrome. Therefore, studying the molecular effects of physical exercise could provide important information about the interactions between organs and the systemic mediators involved in the overall homeostasis of the body