The SIRT1 promoter polymorphic site rs12778366 increases IL-6 related human mortality in the prospective study "Treviso Longeva (TRELONG)".

Studies on sirtuins (SIRT), a family of proteins with deacetylase activity, have provided convergent evidence of the key role of these enzymes in aging-linked physiological functions. The link between SIRT1 and longevity has emerged in model organism but few data are available in humans, in particular relying on longitudinal studies. Here, we assessed whether a genetic variant within SIRT1 gene promoter (rs12778366) was associated to human longevity.

Lower urinary tract symptoms among Caucasian-European men who have sex with men: findings from a real-life survey.

Background: Prevalence of and severity of lower urinary tract symptoms (LUTS) according to male sexual orientation have been scantly analysed. We aimed to assess the prevalence and severity of LUTS in a cohort of Caucasian-European men who have sex with men seeking medical help for uroandrologic reasons other than LUTS.

Methods: Data from 949 consecutive individuals in an outpatient setting were analysed.

Long-term recovery of normal sexual function in testicular cancer survivors.

Testicular cancer (TC) is the most common solid cancer in men between the third and fourth decade of life. Due to successful treatment approaches, TC survivors (TCSs) have long life expectancy, but with numerous potential long-term sequelae, including sexual dysfunction. We investigated predictors of long-term normal sexual function (SF) recovery in TCSs.

Infertility as a proxy of general male health: results of a cross-sectional survey.

Objective: To evaluate the prevalence, and clinical and seminal impact of comorbidities in white European men presenting for couple infertility.

Design: Cross-sectional study.

Setting: Academic reproductive medicine outpatient clinic.

Peyronie's disease and autoimmunity—a real-life clinical study and comprehensive review.

Introduction: Although heavily investigated over the last decades, Peyronie's disease (PD) pathogenesis remains unclear.

Aim: We sought to investigate the association between PD and autoimmune diseases (ADs) in men seeking medical help for sexual dysfunction in the real-life setting.

Methods: Complete sociodemographic and clinical data from a homogenous cohort of 1,140 consecutive Caucasian-European men were analyzed.

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations.

Prevalence and predictors of concomitant low sexual desire/interest and new-onset erectile dysfunction - a picture from the everyday clinical practice.

Prevalence and risk factors of concomitant primary low sexual desire/interest (LSD/I) and subsequent new-onset erectile dysfunction (ED) in men have been only partially investigated. We looked at the sociodemographic and clinical predictors of the concomitant condition of primary LSD/I - defined as the reduction in the usual level of SD/I which precedes ED or another sexual dysfunction - and new-onset ED (LSD/I + ED) in a cohort of consecutive Caucasian-European patients seeking their first medical help for sexual dysfunction at a single outpatient clinic in the everyday clinical practice setting. Data from 439 sexually active patients were analysed.

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases, and 10% are large deletions and duplications. Here we present a large novel deletion in ACVRL1 gene and its molecular characterization in a 3 generation Italian family.

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds.

Conclusions: In contrast to the current trend according to which the treatment of hereditary hemorrhagic telangiectasia (HHT) epistaxis depends on clinical severity, argon plasma coagulation (APC) has also proven to be effective as a first-line procedure in patients with severe nosebleeds. Furthermore, with this approach patients are free from requirements for blood transfusions for a long time in the vast majority of cases.

Objective: The aim of this study was to test the efficacy of APC treatment as a first-line procedure in HHT patients affected by severe epistaxis.

Vibrational spectrum of solid picene (C22H14).

Recently, Mitsuhashi et al observed superconductivity with a transition temperature up to 18 K in potassium doped picene (C(22)H(14)), a polycyclic aromatic hydrocarbon compound (Mitsuhashi et al 2010 Nature 464 76). Theoretical analysis indicates the importance of electron-phonon coupling in the superconducting mechanisms of these systems, with different emphasis on inter- and intra-molecular vibrations, depending on the approximations used. Here we present a combined experimental and ab initio study of the Raman and infrared spectrum of undoped solid picene, which allows us to unambiguously assign the vibrational modes.

Gutzwiller theory of band magnetism in LaOFeAs.

We use the Gutzwiller variational theory to calculate the ground-state phase diagram and quasiparticle bands of LaOFeAs. The Fe3d-As4p Wannier-orbital basis obtained from density-functional theory defines the band part of our eight-band Hubbard model. The full atomic interaction between the electrons in the iron orbitals is parametrized by the Hubbard interaction U and an average Hund's-rule interaction J.

Breast cancer and genetics.

Familiar aggregation of breast cancer has been known since Roman times, but it has been discussed in practical terms only from the 19th century. Most of the studies dealing with this issue suggest that the risk is higher in relatives of patients with early onset and that the risk also increases as a function of the bilaterality of the disease or the simultaneous presence of breast cancer and ovarian cancer.A series of epidemiological studies consistently suggest hereditary autosomal dominant transmission with reduced penetrance.

Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

Activin A receptor, type II-like kinase 1 (also called ALK1), is a serine-threonine kinase predominantly expressed on endothelial cells surface. Mutations in its ACVRL1 encoding gene (12q11-14) cause type 2 Hereditary Haemorrhagic Telangiectasia (HHT2), an autosomal dominant multisystem vascular dysplasia. The study of the structural effects of mutations is crucial to understand their pathogenic mechanism.

Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments.

We report the 1 year follow-up of 3 children affected by non-paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) resistant to conventional therapies (steroids, ACTH and intravenous immunoglobulins) who were treated with an anti CD20 monoclonal antibody (rituximab). Treatment response was recorded on the basis of an international score at 0, 3, 6, 9 and 12 months. Despite the long disease duration and the numerous previously administered treatments, all patients underwent rapid and persistent neurological recovery following rituximab administration, thus suggesting a potential role of this drug even in pre-treated patients.

Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. Mutations of the ENG and ACVRL1 genes cause at least 80% of cases. We report the first case of merkeloma found in a patient with HHT carrying an ENG mutation.

Is LaFeAsO1-xFx an electron-phonon superconductor?

In this Letter, we calculate the electron-phonon coupling of the newly discovered superconductor LaFeAsO1-xFx using linear response. For pure LaFeAsO, the calculated electron-phonon coupling constant lambda=0.21 and logarithmic-averaged frequency omegaln=206 K give a maximum Tc of 0.

Energy gaps and Kohn anomalies in elemental superconductors.

The momentum and temperature dependence of the lifetimes of acoustic phonons in the elemental superconductors lead and niobium were determined by resonant spin-echo spectroscopy with neutrons. In both elements, the superconducting energy gap extracted from these measurements was found to converge with sharp anomalies originating from Fermi-surface nesting (Kohn anomalies) at low temperatures. The results indicate electron many-body correlations beyond the standard theoretical framework for conventional superconductivity.

Superconductivity in heavy alkaline-Earth intercalated graphites.

We report the discovery of superconductivity below 1.65(6) K in Sr-intercalated graphite SrC(6), by susceptibility and specific heat (C(p)) measurements. In comparison with CaC(6), we found that the anisotropy of the upper critical fields for SrC(6) is much reduced.

Momentum-resolved electron-phonon interaction in lead determined by neutron resonance spin-echo spectroscopy.

Neutron resonance spin-echo spectroscopy was used to monitor the temperature evolution of the linewidths of transverse acoustic phonons in lead across the superconducting transition temperature over an extended range of the Brillouin zone. For phonons with energies below the superconducting energy gap, a linewidth reduction of maximum amplitude was observed below . The electron-phonon contribution to the phonon lifetime extracted from these data is in satisfactory overall agreement with ab initio lattice-dynamical calculations, but significant deviations are found.

Specific heat of the Ca-intercalated graphite superconductor CaC6.

The superconducting state of Ca-intercalated graphite CaC6 has been investigated by specific heat measurements. The characteristic anomaly at the superconducting transition (Tc = 11.4 K) indicates clearly the bulk nature of the superconductivity.

Three-dimensional MgB2-type superconductivity in hole-doped diamond.

We substantiate by numerical and analytical calculations that the recently discovered superconductivity below 4 K in 3% boron-doped diamond is caused by electron-phonon coupling of the same type as in MgB2, albeit in three dimensions. Holes at the top of the zone-centered, degenerate sigma-bonding valence-band couple strongly to the optical bond-stretching modes. The increase from two to three dimensions reduces the mode softening crucial for T(c) reaching 40 K in MgB2.

[Psychomotor treatment of cranial injuries in childhood. Two cases of apallic syndrome].

In this paper the authors aim to assess the results of psychomotor treatment of 5 patients with cranial injuries admitted to the Division of Infantile Neuropsychiatry at Gaslini Hospital from 1983 to 1985 and to evaluate the role of this treatment in a pathology with multiple, complex functional disorders. Evolution was excellent in 3 out of 5 patients who presented level 1-3 coma with limited post-traumatic sequelae (epilepsy and dysfunction of the left side in A.D.