Background: Spinal muscular atrophy (SMA) is a children’s neuromuscular disorder. Although motor neuron loss is a major feature of the disease, we have identified fatty acid abnormalities in SMA patients and in preclinical animal models, suggesting metabolic perturbation is also an important component of SMA. Methods: Biochemical, histological, proteomic, and high resolution respirometry were used. Results: SMA patients are more susceptible to dyslipidemia than the average population as determined by a standard lipid profile in a cohort of 72 pediatric patients. As well, we observed a non-alcoholic liver disease phenotype in apreclinical mouse model. Denervation alone was not sufficient to induce liver steatosis, as a mouse model of ALS, did not develop fatty liver. Hyperglucagonemia in Smn2B/-mice could explain the hepatic steatosis by increasing plasma substrate availability via glycogen depletion and peripheral lipolysis. Proteomic analysis identified mitochondrion and lipid metabolism as major clusters. Alterations in mitochondrial function were revealed by high-resolution respirometry. Finally, low-fat diets led to increased survival in Smn2B/-mice. Conclusions: These results provide strong evidence for lipid metabolism defects in SMA. Further investigation will be required to establish the primary mechanism of these alterations and understand how they lead to additional co-morbidities in SMA patients.

In this study, Au-based nanoglasses in the form of thin films deposited by magnetron sputtering are comparatively dealloyed. The films have either nanograined or nanocolumnar microstructure, depending on the working pressure of Ar in the sputtering chamber. Nanocolumnar thin films exhibit much higher dealloying rate reducing effectively the dealloying time with respect to nanograined and homogenous thin films. Electrocatalysis experiments indicate that the resulting nanoporous films are active for the methanol electrooxidation, with promising results in term of stability especially for the dealloyed nanocolumnar film.

The contribution of binge eating (BE) behaviour to cardiometabolic risk factors has been scarcely investigated so far. Previous studies have not considered the nutritional status and lifestyle of subjects suffering from BE. The aim of this study was to evaluate the contribution of BE to the metabolic syndrome (MS), its components, high total cholesterol and high LDL in a large sample of subjects, taking into account nutritional status, dietary habits, smoking status and physical activity. For this purpose, 5175 adults seeking a weight loss or maintenance programme were recruited. Anthropometrical measurements and blood parameters were measured. BE was evaluated using the Binge Eating Scale (BES). A fourteen-item questionnaire was used to evaluate the adherence to the Mediterranean diet. Smoking status and physical activity were investigated by interview. BE prevalence was 0·16 (95 % CI 0·15, 0·17). A sex- and age-adjusted Poisson regression model showed a higher prevalence of MS in binge eaters (0·33; 95 % CI 0·28, 0·37) compared with non-binge eaters (0·27; 95 % CI 0·25, 0·28, P=0·011). However, the statistical difference was lost after inclusion of BMI and lifestyle parameters in the multiple-adjusted model. We also evaluated the association between the continuous outcomes of interest and the BES score using a multivariable median regression model. We observed a positive, but clinically irrelevant, association between BES score and HDL levels (P<0·001). In conclusion, BE does not seem to be independently related to cardiometabolic risk factors. However, the screening and treatment of BE are of clinical relevance in order to reduce the risk of developing obesity.

Extracts of Phaseolus vulgaris (beans) are known to reduce glycaemia and food intake in rodents and humans. The present study evaluated the effects of a new, standardised and purified P. vulgaris extract (PVE), when employed as a supplement in a mixed balanced meal (60 % carbohydrates, 25 % lipids and 15 % protein), on glycometabolic and appetite control. To this end, a randomised, double-blind, placebo-controlled study was performed in twelve volunteers. Plasma glucose, insulin, C-peptide, ghrelin and satiety sensation ratings were assessed at baseline and during 3 h after meal consumption associated with PVE (100 mg) or placebo. Compared with placebo, PVE consumption resulted in lower increments in glucose (+15·4 (sem 5·4) v. 26·1 (sem 7·3) %, P= 0·04 at 30 min), insulin (+981 (sem 115) v. 1325 (sem 240) %, P= 0·04 between 45 and 120 min) and C-peptide (+350 (sem 27) v. 439 (sem 30) %, P= 0·04 between 30 and 90 min). In the first 2 h, plasma ghrelin decreased similarly in both groups but did not rebound as in placebo thereafter (P= 0·04). Correspondingly, satiety sensation in the third hour was significantly reduced in the placebo but not in the PVE condition. PVE induced a lower desire to eat than placebo (P= 0·02) over the 3 h. In conclusion, PVE supplementation reduced postprandial glucose, insulin and C-peptide excursions, suppressed ghrelin secretion and affected satiety sensations, inducing a lower desire to eat. These results support that further studies are needed to prove the concept of employing PVE as a supplement in mixed balanced meals in obese, glucose-intolerant and diabetic subjects.

Salicylic acid (SA) is a natural phenolic compound known as the active principle of aspirin. Its presence in vegetal sources suggests that fruit and vegetable (FV) consumption could produce measurable SA serum concentrations in human subjects not taking aspirin. The aim of this study was to investigate the relationship between FV intake and circulating SA in healthy subjects. Thirty-eight volunteers (twenty-two males and sixteen females) were recruited from an Italian university campus. They recorded their food intake for 7 d to evaluate dietary consumption and, in particular, FV intake; fasting blood samples were taken on the morning of the eighth day to measure SA serum concentration, using a sensitive stable isotope dilution and GC–MS method. Median SA serum concentration was 0·124 μmol/l (range 0·028–0·295). Circulating SA was significantly related to FV consumption, both to the mean daily intake (r2 0·13, P = 0·03) and to the last day intake (r2 0·16, P = 0·01). The subjects in the highest FV intake quartile in the preceding day (>4·75 servings) had significantly higher SA concentrations than in the lowest quartile ( < 2·3 servings) (median concentrations 0·188 and 0·112 μmol/l, respectively; P = 0·04). This study proved that, after overnight fast, human subjects not taking aspirin display circulating SA in amounts related to the FV consumption. It is therefore possible that the beneficial effects of regular FV consumption in man could also depend on low chronic SA exposure.

Metallic glass-forming liquids and glasses are ranked using thermophysical properties (glass transition, excess entropy, fragility indexes). The relationships between mechanical properties and some of the above quantities are discussed to get insight into the mechanism of shear band propagation during mechanical failure when, following up a shear offset event, a local temperature rise occurs. The mechanism is supported by evaluating the energy content of the shear band, as well as finite element modelling of temperature profiles around it.

Amorphisation studies by rapid solidification of Al-based alloys containing a transition metal (TM) and a rare earth element (RE) are reported. Results on primary formation of Al nanocrystals are given and discussed in relation to possible nucleation mechanisms considering the effect of various RE elements (RE = La, Ce, Nd and Sm) in Al87Ni7RE6 alloys. Ti or Zr, immiscible with RE's, are added to the ternary alloys with the aim of revealing possible phase separation in the melt. Calculations of ternary Al-Ni-Ce metastable phase equilibria are helpful in understanding the transformation sequence. Composition profiles ahead of nanocrystals are computed using the DICTRA software which correctly predicts the occurrence of composition gradients.

The surface fracture of mechanically tested samples are observed in TEM to check whether crystallisation is induced by deformation.

The formation of nanosized microstructures from controlled devitrification of amorphous alloys is reviewed. The driving force for copious nucleation of crystals is discussed in terms of thermodynamic models for the free energy of crystallization and for the interfacial free energy. After fast nucleation and growth of crystals to nanometric size, there are evidences of a change in diffusion mechanism to slow growth. Examples are provided of primary processes in Fe-Zr-B and Al-Sm with data of XRD, TEM, DSC. Cases of eutectic and polymorphic transformations are also at hand (Ni-P, Cu-Ti-Al, Cu-Ti-Ni, Ti-Zr-Co-Cu-Al) showing that the thermodynamic and kinetic conditions leading to nanostructured materials are not unique.

Finally chemical effects are discussed such as those of impurities in crystallization (e. g. Zr-based alloys), in leaching of Ni-Zr-Al and in deposition reaction of electroless Ni-P.

Several samples of metals and alloys have been undercooled during scanning in a high temperature DSC. Liquid Ni was undercooled of about 230 K when previously fluxed in molten B2O3. From enthalpy data of melting and solidification as a function of temperature, the excess heat capacity of liquid metals and alloys was evaluated. The specific heat of the liquid is definitely higher than that of the corresponding crystalline phases for glass-forming alloys, whereas it is close to that of the solid for pure metals. The Ni-B system has been studied in detail around the Ni-Ni3B eutectic. On undercooling, a new metastable phase (Ni23B6) was produced. A metastable Ni-B phase diagram has been drawn using data of thermal analysis of several alloys containing the metastable phase.

On heating a gel of composition 33.5SnO2−66.5SiO2 (wt. %) up to 1050 °C, SnO2 crystallization occurred with different mechanisms according to thermal treatments. Thermal analysis, SAXS (Small Angle X-Ray Scattering), WAXS (Wide Angle X-Ray Scattering), and TEM (Transmission Electron Microscopy) results obtained for samples treated at different temperatures demonstrated that the SnO2 load is divided into two moieties, one composed of isolated SnO2 particles suitable for primary crystallization yielding crystallites with 4.0 nm of average size; the other, being dissolved in SiO2, remains in the amorphous SiO2/SnO2 solid solution up to the highest temperature. The presence of these two phases accounts for SnO2 surface segregation at the expense of the SnO2 concentration of neighboring outer layers and the independence of apparent density on temperature.

Films of μc-Si:H have been deposited in a conventional PECVD system in order to investigate their structural and morphological properties. They consist of a mixed phase of Si crystallites (50–200 Å), surrounded by grain boundaries, and amorphous regions. In this paper we report results obtained by different characterization techniques which have been used to deduce grain size, microcrystallinity fraction and composition of the crystalline, amoiphous and grain boundary. The amorphous matrix can be considered a covalent network where tetrahedrically coordinated carbon atoms, with 1 on 9 bonds terminated by hydrogen, exist. They form a distribution of large aromatic clusters containing a great number of aromatic rings such as to remarkably reduce the number of network terminators (hydrogen atoms).

Amorphous and microcrystalline films of silicon and silicon carbide have been deposited by means of PECVD at low substrate temperature (200°C), with reactive gases highly diluted in H2. Devices quality a-Si:H films have been annealed in vacuum at temperatures in the range 200- 1000 °C. The transition from amorphous to crystalline structure was studied by X-ray, Raman and I.R. spectroscopies, optical analysis in UV-VIS-NIR region, Transmission Electron Microscopy, Differential Scanning Calorimetry and Electron Spin Resonance measurements. By comparing the results of the two methods to obtain microcrystalline films we have deduced information on the process of growth of Si and SiC microcrystals.

The specific heat of liquid and solid phases and the heats of crystallization and fusion have been measured by differential scanning calorimetry (DSC) for a series of Te80Ge20 − x Pbx alloys (0≤x≤20). The enthalpy, entropy, and free energy of the undercooled liquid are quantitatively assessed with reference to the crystal phases. The available formulas for computing the free energy of the liquid are compared, and their relative merits are discussed. The glass transition temperature is shown to depend strongly on the ratio of the average excess specific heat of the liquid to the entropy of fusion. An anomaly in the liquid specific heat, which is particularly important for Te80Ge20 and Te80Ge15Pb5, leads to very good glass forming ability for these alloys; this is demonstrated by preparing amorphous samples by means of fluxing.

Amorphous phases are observed in laser glazed Fe82 Bl2C6, Fe 82 C18 alloys by Transmission Electron Microscopy. Differential Scanning Calorimetry is used to monitor the amorphous to crystalline transformation. Metastable crystalline structures are also found, such as e-phase in Fe82 C18 and Fe 70Mo10 C20 alloys and, respectively, very fine bainite and retained austenite.