Elastic anomalies in glasses: the string theory understanding in the case of Glycerol and Silica

We present an implementation of the analytical string theory recently applied to the description of glasses. These are modeled as continuum media with embedded elastic string heterogeneities, randomly located and randomly oriented, which oscillate around a straight equilibrium position with a fundamental frequency depending on their length. The existence of a length distribution reflects then in a distribution of oscillation frequencies which is responsible for the Boson Peak in the glass density of states. Previously, it has been shown that such a description can account for the elastic anomalies reported at frequencies comparable with the Boson Peak. Here we start from the generalized hydrodynamics to determine the dynamic correlation function $S(k,\omega)$ associated with the coherent, dispersive and attenuated, sound waves resulting from a sound-string interference. Once the vibrational density of states has been measured, we can use it for univocally fixing the string length distribution inherent to a given glass. The density-density correlation function obtained using such distribution is strongly constrained, and able to account for the experimental data collected on two prototypical glasses: glycerol and silica. The obtained string length distribution is compatible with the typical size of elastic heterogeneities previously reported for silica and supercooled liquids, and the atomic motion associated to the string dynamics is consistent with the soft modes recently identified in large scale numerical simulations as non-phonon modes responsible for the Boson Peak. The theory is thus in agreement with the most recent advances in the understanding of the glass specific dynamics and offers an appealing simple understanding of the microscopic origin of the latter, while raising new questions on the universality or material-specificity of the string distribution properties.Comment: 15 pages, 8 figure

Resistin, visfatin, leptin and omentin are differently related to hormonal and metabolic parameters in growth hormone-deficient children

PURPOSE: The effect of growth hormone (GH) on adipose tissue and the role of adipokines in modulating metabolism are documented, but with discordant data. Our aim was to evaluate the impact of GH treatment on a series of selected adipokines known to have a metabolic role and poorly investigated in this setting. METHODS: This is a prospective study. Thirty-one prepubertal children (25 M, 6 F; aged 8.5 ± 1.6 years) with isolated GH deficiency treated with GH for at least 12 months and 30 matched controls were evaluated. Auxological and metabolic parameters, insulin sensitivity indexes, leptin, soluble leptin receptor, adiponectin, visfatin, resistin, omentin, adipocyte fatty acid-binding protein and retinol-binding protein-4 were evaluated before and after 12 months of treatment. RESULTS: At baseline, no significant difference in metabolic parameters was found between GHD children and controls, except for higher LDL cholesterol (p = 0.004) in the first group. At multivariate analysis, LDL cholesterol was independently associated with resistin (B 0.531; p = 0.002), while IGF-I was the only variable independently associated with visfatin (B 0.688; p < 0.001). After 12 months, a significant increase in fasting insulin (p = 0.008), Homa-IR (p = 0.007) and visfatin (p < 0.001) was found, with a concomitant decrease in LDL cholesterol (p = 0.015), QUICKI (p = 0.001), ISI Matsuda (p = 0.006), leptin (p = 0.015) and omentin (p = 0.003)]. At multivariate analysis, BMI was the only variable independently associated with leptin (B 0.485; p = 0.040). CONCLUSIONS: GH treatment modifies adipokine secretion and the perturbation of some adipokine levels could contribute to the clinical and metabolic changes observed during the follow-up

PFN1 and integrin-β1/mTOR axis involvement in cornea differentiation of fibroblast limbal stem cells

Ex vivo limbal stem cell transplantation is the main therapeutic approach to address a complete and functional re-epithelialization in corneal blindness, the second most common eye disorder. Although important key points were defined, the molecular mechanisms involved in the epithelial phenotype determination are unclear. Our previous studies have demonstrated the pluripotency and immune-modulatory of fibroblast limbal stem cells (f-LSCs), isolated from the corneal limbus. We defined a proteomic profile especially enriched in wound healing and cytoskeleton-remodelling proteins, including Profilin-1 (PFN1). In this study we postulate that pfn-1 knock down promotes epithelial lineage by inhibiting the integrin-β1(CD29)/mTOR pathway and subsequent NANOG down-expression. We showed that it is possible modulate pfn1 expression levels by treating f-LSCs with Resveratrol (RSV), a natural compound: pfn1 decline is accompanied with up-regulation of the specific differentiation epithelial genes pax6 (paired-box 6), sox17 (sex determining region Y-box 17) and ΔNp63-α (p63 splice variant), consistent with drop-down of the principle stem gene levels. These results contribute to understand the molecular biology of corneal epithelium development and suggest that pfn1 is a potential molecular target for the treatment of corneal blindness based on epithelial cell dysfunction

Melting curve and fluid equation of state of carbon dioxide at high pressure and high temperature

Accepted by Journal of Chemical Physics; in pressThe melting curve and fluid equation of state of carbon dioxide have been determined under high pressure in a resistively-heated diamond anvil cell. The melting line was determined from room temperature up to $11.1\pm0.1$~GPa and $800\pm5$~K by visual observation of the solid-fluid equilibrium and in-situ measurements of pressure and temperature. Raman spectroscopy was used to identify the solid phase in equilibrium with the melt, showing that solid I is the stable phase along the melting curve in the probed range. Interferometric and Brillouin scattering experiments were conducted to determine the refractive index and sound velocity of the fluid phase. A dispersion of the sound velocity between ultrasonic and Brillouin frequencies is evidenced and could be reproduced by postulating the presence of a thermal relaxation process. The Brillouin sound velocities were then transformed to thermodynamic values in order to calculate the equation of state of fluid CO$_2$. An analytic formulation of the density with respect to pressure and temperature is proposed, suitable in the $P-T$ range 0.1-8~GPa and 300-700~K and accurate within 2\%. Our results show that the fluid above 500 K is less compressible than predicted from various phenomenological models

BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses.

PURPOSE: To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible association between the higher frequency of BRCA1 mutations and a specific familial profile. EXPERIMENTAL DESIGN: A consecutive series of 650 patients with BC and/or OC diagnosed between 1999 and 2005 were recruited from the Southern Italian region of Sicily, after interview at the "Regional Reference Centre for the Characterization and Genetic Screening of Hereditary Tumors" at the University of Palermo. Genetic counselling allowed us to recruit a total of 106 unrelated families affected with breast and/or ovarian cancer screened for mutations occurring in the whole BRCA1 gene by automatic direct sequencing. RESULTS: Germline BRCA1 mutations were found in 17 of 106 (16%) Sicilian families. The HBOC profile had a major frequency (66%) of mutations (P < 0.01). A total of 28 sequence variants was identified. Seven of these were pathogenic, 5 unknown biological variant (UV) and 16 polymorphisms. We also identified a pathological mutation (4843delC) as a possible Sicilian founder mutation. CONCLUSIONS: The present study is the first BRCA1 disease-associated mutations analysis in Southern Italian families. The early age of onset of such tumors and the association with the HBOC familial profile could be two valid screening factors for the identification of BRCA1 mutation carriers. Finally, we identified a BRCA1 mutation with a possible founder effec

USEFULNESS OF AN AD HOC QUESTIONNAIRE (ACRO-CQ) FOR THE SYSTEMATIC ASSESSMENT OF ACROMEGALY COMORBIDITIES AT DIAGNOSIS AND THEIR MANAGEMENT AT FOLLOW-UP

Purpose: To determine the validity of a self-administered questionnaire (Acro-CQ) developed to systematically assess the presence, type and time of onset of acromegaly comorbidities. Methods: This is a cross-sectional study; 105 acromegaly patients and 147 controls with other types of pituitary adenoma, referred to a specialized Italian Center, autonomously compiled Acro-CQ in an outpatient clinical setting. To test its reliability in a different setting, Acro-CQ was administered via mail to 78 patients with acromegaly and 100 with other pituitary adenomas, referred to a specialized US Center. Data obtained from questionnaires in both settings were compared with medical records (gold standard). Results: Demographics of patients and controls from both countries were similar. In both settings, >95 % of the questionnaires were completely filled; only one item was missed in the others. Concordance with medical record was excellent (k > 0.85) for most of the items, independently from the way of administration, patient age, gender and nationality, pituitary adenoma type and disease activity. Conclusions: Acro-CQ is an inexpensive, highly accepted from patients and reliable tool recommended to expedite systematic collection of relevant clinical data in acromegaly at diagnosis, to be replicated at follow-ups. This tool may guide a targeted, cost-effective management of complications. Moreover, it could be applied to retrieve data for survey studies in both acromegaly and other pituitary adenomas, as information is easily and rapidly accessible for statistical analysis

Reduced phase space of heat-carrying acoustic phonons in single-crystalline InTe

Chalcogenide semiconductors and semimetals are a fertile class of efficient thermoelectric materials, which, in most cases, exhibit very low lattice thermal conductivity κph despite lacking a complex crystal structure such as the tetragonal binary compound InTe. Our measurements of κph(T) in single-crystalline InTe along the c axis show that κph exhibits a smooth temperature dependence upon cooling to about 50 K, the temperature below which a strong rise typical for dielectric compounds is observed. Using a combination of first-principles calculations, inelastic neutron scattering (INS), and low-temperature specific heat and transport properties measurements on single-crystalline InTe, we show that the phonon spectrum exhibits well-defined acoustic modes, the energy dispersions of which are constrained to low energies due to distributions of dispersionless, optical modes, which are responsible for a broad double peak structure in the low-temperature specific heat. The latter are assigned to the dynamics of In+ cations in tunnels formed by edge-sharing (In3+Te42−)− tetrahedra chains, the atomic thermal displacement parameters of which, probed as a function of temperature by means of single-crystal x-ray diffraction, suggest the existence of a complex energy potential. Indeed, the In+-weighted optical modes are not observed by INS, which is ascribed to the anharmonic broadening of their energy profiles. While the low κph value of 1.2Wm−1K−1 at 300 K originates from the limited energy range available for acoustic phonons, we show that the underlying mechanism is specific to InTe and argue that it is likely related to the presence of local disorder induced by the In+ sit

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

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