Search

Greig Blamey,1 Cathy Buranahirun,2 Andrea Buzzi,3 David L Cooper,4 Susan Cutter,5 Sue Geraghty,6 Hossam Saad,4 Renchi Yang71Physiotherapy Department, Health Sciences Centre, Winnipeg, Manitoba, Canada; 2Children’s Center for Cancer and Blood Diseases, Keck School of Medicine, University of Southern California/Children’s Hospital Los Angeles, Los Angeles, CA, USA; 3Fondazione Paracelso, Milan, Italy; 4Novo Nordisk Inc., Plainsboro, NJ, USA; 5Penn Comprehensive Hemophilia and Thrombosis Program, Hospital of the University of Pennsylvania, Philadelphia, PA, USA; 6University of Colorado Hemophilia and Thrombosis Center-Retired, Denver, CO, USA; 7Tianjin Hemophilia Center, Tianjin, People’s Republic of ChinaBackground: Sexual health plays a primary role in quality of life (QoL) for many people, including those with hemophilia; however, there is little information available about sexual relationships and satisfaction in patients with hemophilia.Methods: To address this issue, the Hemophilia Experiences, Results and Opportunities (HERO) and the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) studies included questions from the Male Sexual Health Questionnaire (MSHQ).Results: Although these data were not statistically analyzed for comparisons between the 3 populations (HERO, HERO US only, and B-HERO-S), in general, participants in the HERO survey appeared to be more satisfied with their sexual relationship than participants in the B-HERO-S survey. In addition, many patients, especially those outside the United States, reported that they had not discussed sexual health with their doctor or other members of the hemophilia treatment center team. While the topic of sexual health has been infrequently explored in men with hemophilia, this is the first time it has been investigated in women with hemophilia.Conclusion: The results of these studies demonstrate that the impact of hemophilia extends to intimacy and suggest the need for large-scale studies in additional countries to explore further the factors associated with sexual health issues in people with hemophilia.Keywords: Male Sexual Health Questionnaire, quality of life, sexual relationships

ISAC numerical modeling chain, based on BOLAM and MOLOCH mesoscale models, is applied to study heavy precipitation events over Liguria region. In particular, the convection-permitting model MOLOCH is applied at different spatial resolutions in order to investigate the main dynamical processes responsible for the onset, lifecycle, intensity and localization/propagation of the mesoscale convective systems and to assess the ability of the model in quantitative precipitation forecasting (QPF) with respect to initial conditions and model horizontal resolution. Moreover, a procedure for assimilating radar rainfall estimate in MOLOCH, based on nudging, is implemented and evaluated over a relevant number of severe weather episodes.

The Adriatic basin is regularly affected by cold, strong and gusty bora winds blowing from the northeast, especially during winter. These events are characterized by intense air-sea interactions and produce important meteorological effects not only over the eastern Adriatic basin, where bora originates and attains its maximum intensity, but also downstream over the Italian peninsula where heavy rainfall and snowfall can occur. The present study aims at evaluating the impact of surface fluxes of sensible and latent heat, that characterize air-sea interaction during a bora episode, on wind strength and profiles over the Adriatic Sea, in relation to intense precipitation affecting the Apennines and the Italian coast. High-resolution numerical simulations are used in order to assess the role of surface fluxes in modulating the atmospheric water balance, modifying the thermodynamic characteristic of the boundary layer and, in turn, the dynamics of the orographic flow regime.

Various aspects of the synoptic-scale variability over the Mediterranean are presented and reviewed, with particular attention given to the influence of orography on cyclones and cyclogenesis, especially in the Western Mediterranean.

Since August 2009, the atmospheric general circulation model GLOBO has been running experimentally at the Institute ISAC of the National Council of Research of Italy. GLOBO is derived from the grid point limited area meteorological model BOLAM, developed at the same institute, extended to the entire earth atmosphere. Here, the main dynamical features and physical parameterizations of GLOBO are presented. Starting from initial conditions obtained from the analysis of the NCEP-GFS model valid at 00 UTC, six day forecasts with average horizontal resolution of 32 km were performed on a daily basis and in real time. The assessment of the forecast skill during the 1.5-year period included the calculation of the monthly averaged root-mean-square errors (model prediction vs. gridded analyses) of geopotential height at 500 hPa and mean sea level pressure for the Northern and Southern extra-tropics, performed accordingly to WMO/CBS standards. The verification results are compared with those of the global forecast models of the Global Data Processing and Forecasting System (GDPFS) centers, as available in the literature. The GLOBO skill for medium range forecasts turns out to be comparable to that of the above models. The lack of analyses based on model forecasts and data assimilation is likely to penalize the scores for shorter term forecasts.

Genetic mechanisms are estimated to underlie about 40% of epilepsies and may present with different manifestations and syndromes. In this thesis, three different cases of genetic implications in epilepsy have been studied: Unverricht-Lundborg disease (ULD), a monogenic Progressive Myoclonic Epilepsy in which disruption of the cystatin B gene results in the manifestation of the pathology; Fragile X, the most frequent genetic mental retardation disease which associates to epileptic seizures in about 25% of the cases; and involvement of the bradykinin system in epilepsy, a possible cause of latent hyper-excitability. The study on ULD revealed increased brain excitability in mice deficient for cystatin B, the genetic defect associated with the pathology. This hyperexcitability seems to be related to a decreased inhibitory cell number and/or to the activation of microglia. Our findings on Fragile-X reveal that, after a chemically induced epileptic event (pilocarpine status epilepticus), active synapses accumulate Fmr1 mRNA and its protein, FMRP. This phenomenon may account for an involvement in activity-dependent synaptic plasticity and epileptogenesis. Finally, we studied bradykinin involvement in brain excitability, and found that electrical (kindling) and chemical (kainate) epileptic insults exacerbate a latent tissue hyper-excitability in B1 null mice. These findings are examples of how genetic alterations may alter brain function, directly or indirectly leading to epilepsy manifestations. In depth, investigation of the different aspects of the genetic mechanisms of epilepsy is very important to identify key factors that, in the end, may allow discovering new therapeutic targets and new treatments. Moreover, study of the basic mechanisms underpinning pathological events may also shed light on the normal brain function.