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Next generation sequencing (NGS) has changed our approach to diagnosis of genetic disorders. Nowadays, the most comprehensive application of NGS is whole genome sequencing (WGS) that is able to detect virtually all DNA variations. However, even after accurate WGS, many genetic conditions remain unsolved. This may be due to the current NGS protocols, based on DNA fragmentation and short reads. To overcome these limitations, we applied a linked-read sequencing technology that combines single-molecule barcoding with short-read WGS. We were able to assemble haplotypes and distinguish between alleles along the genome. As an exemplary case, we studied the case of a female carrier of X-linked muscular dystrophy with an unsolved genetic status. A deletion of exons 16&ndash, 29 in DMD gene was responsible for the disease in her family, but she showed a normal dosage of these exons by Multiplex Ligation-dependent Probe Amplification (MLPA) and array CGH. This situation is usually considered compatible with a &ldquo, non-carrier&rdquo, status. Unexpectedly, the girl also showed an increased dosage of flanking exons 1&ndash, 15 and 30&ndash, 34. Using linked-read WGS, we were able to distinguish between the two X chromosomes. In the first allele, we found the 16&ndash, 29 deletion, while the second allele showed a 1&ndash, 34 duplication: in both cases, linked-read WGS correctly mapped the borders at single-nucleotide resolution. This duplication in trans apparently restored the normal dosage of exons 16&ndash, 29 seen by quantitative assays. This had a dramatic impact in genetic counselling, by converting a non-carrier into a double carrier status prediction. We conclude that linked-read WGS should be considered as a valuable option to improve our understanding of unsolved genetic conditions.

Depression and obesity are very common pathologies. Both cause significant problems of both morbidity and mortality and have decisive impacts not only on the health and well-being of patients, but also on socioeconomic and health expenditure aspects. Many epidemiological studies, clinical studies and meta-analyses support the association between mood disorders and obesity in relationships to different conditions such as the severity of depression, the severity of obesity, gender, socioeconomic status, genetic susceptibility, environmental influences and adverse experiences of childhood. Currently, both depression and obesity are considered pathologies with a high-inflammatory impact; it is believed that several overlapping factors, such as the activation of the cortico-adrenal axis, the exaggerated and prolonged response of the innate immune system and proinflammatory cytokines to stress factors and pathogens—as well as alterations of the intestinal microbiota which promote intestinal permeability—can favor the expression of an increasingly proinflammatory phenotype that can be considered a key and common phenomenon between these two widespread pathologies. The purpose of this literature review is to evaluate the common and interacting mechanisms between depression and obesity.

Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According to the pattern of inheritance, two distinct clinical forms have been described, Thomsen disease, inherited as an autosomal dominant trait and Becker disease inherited as an autosomal recessive trait. We report genetic and clinical data concerning 19 patients−13 familial and six isolated cases—all but one originating from the Campania Region, in southern Italy. Twelve patients (63.2%) present Becker type myotonia and 7 (36.8%) Thomsen type. Sex ratio M:F in Becker type is 6:6, while in Thomsen myotonia 4:3. The age of onset of the disease ranged from 2 to 15 years in Becker patients, and from 4 to 20 years in Thomsen. Overall 18 mutations were identified, 10 located in the coding part of the gene (exons 1, 3, 4, 5, 7, 8, 13, 15, 21, 22), and four in the intron part (introns 1, 2, 10, 18). All the exon mutations but two were missense mutations. Some of them, such as c.2551 G > A, c.817G > A and c.86A > C recurred more frequently. About 70% of mutations was inherited with an autosomal recessive pattern, two (c.86A and c.817G>A) with both mechanisms. Three novel mutations were identified, never described in the literature: p.Gly276Ser, p.Phe486Ser, and p.Gln812*, associated with Becker phenotype. Furthermore, we identified three CLCN1 mutations—c.86A>C + c.2551G > A, c.313C > T + c.501C > G and 899G > A + c.2284+5C > T, two of them inherited in cis on the same allele, in three unrelated families. The concomitant occurrence of both clinical pictures—Thomsen and Becker—was observed in one family. Intra-familial phenotypic variability was observed in two families, one with Becker phenotype, and one with Thomsen disease. In the latter an incomplete penetrance was hypothesized.

Anorexia nervosa is a psychiatric disorder, the etiopathogenesis of which is still not fully understood. Currently, the most accredited model is a multifactorial model, which involves interaction between predisposing factors of biological nature, partly genetically determined, and psychological/personological and environmental socio-cultural factors. The last 20 years have led to the advancement in our knowledge on the mechanisms of energy homeostasis maintenance. There has been a veritable explosion of studies aimed at investigating anorexia nervosa and the functionality of associated neurotransmitters and neuromodulators in both central and peripheral systems. They play a key role in the regulation of eating behavior. We provide a brief review of the current knowledge on the neurochemical system involved in anorexia nervosa.

Selective laser melting (SLM) process, an additive manufacturing (AM) technology, has had a rapid growth in the biomedical and aerospace markets because of the ability to manufacture complex designs directly from computer-aided design (CAD) using materials such as titanium and aluminum alloys. Although this technology allows designers to fabricate geometries not achievable with conventional manufacturing, it has some restrictions. The paper presents the technological problems and restrictions resulting in the production of structures in aluminum alloy by SLM. In particular, it analyzed the input file of the process, .STL file, and the dimensional limits of geometries with sharp edges as a simple parallelepiped with a square base since the understanding of the limitations can help the designer in the creation of new components. The creation of function-independent design rules, easily transferrable on individual part designs, could allow a wide industrial usage and a better knowledge of AM technologies. The results presented in this paper showed that the choice of parameters of conversion from the CAD model to .STL file could be a restriction for the software for preprocessing part but also affects the surface roughness. Moreover, if a SLM machine with a laser beam of 100 μm is used, it is not possible to produce geometries with sharp edges with size base below 0.8 mm in an aluminum alloy.

Nickel superalloys are typical materials used for the hot parts of engines in aircraft and space vehicles. They are very important in this field as they offer high-temperature mechanical strength together with a good resistance to oxidation and corrosion. Due to high-temperature buckling phenomena, reinforcement of the nickel superalloy might be needed to increase stiffness. For this reason, it was thought to investigate the possibility of producing composite materials that might improve properties of the metal at high temperature. The composite material was produced by using electrochemical deposition method in which a composite with nickel matrix and long silicon carbide fibers was deposited over the nickel superalloy. The substrate was Inconel 718, and monofilament continuous silicon carbide fibers were chosen as reinforcement. Chemical compatibility was studied between Inconel 718 and the reinforcing fibers, with fibers both in an uncoated condition, and coated with carbon or carbon/titanium diboride. Both theoretical calculations and experiments were conducted, which suggested the use of a carbon coating over the fibers and a buffer layer of nickel to avoid unwanted reactions between the substrate and silicon carbide. Deposition was then performed, and this demonstrated the practical feasibility of the process. Yield strength was measured to detect the onset of interface debonding between the substrate and the composite layer.

In this paper, a characterization of an AlSiMg alloy processed by direct metal laser sintering (DMLS) is presented, from the analysis of the starting powders, in terms of size, morphology and chemical composition, through to the evaluation of mechanical and microstructural properties of specimens built along different orientations parallel and perpendicular to the powder deposition plane. With respect to a similar aluminum alloy as-fabricated, a higher yield strength of about 40% due to the very fine microstructure, closely related to the mechanisms involved in this additive process is observed.

BACKGROUND: The role of timed items, and more specifically, of the time to rise from the floor, has been reported as an early prognostic factor for disease progression and loss of ambulation. The aim of our study was to investigate the possible effect of the time to rise from the floor test on the changes observed on the 6MWT over 12 months in a cohort of ambulant Duchenne boys. SUBJECTS AND METHODS: A total of 487 12-month data points were collected from 215 ambulant Duchenne boys. The age ranged between 5.0 and 20.0 years (mean 8.48 ±2.48 DS). RESULTS: The results of the time to rise from the floor at baseline ranged from 1.2 to 29.4 seconds in the boys who could perform the test. 49 patients were unable to perform the test at baseline and 87 at 12 month The 6MWT values ranged from 82 to 567 meters at baseline. 3 patients lost the ability to perform the 6mwt at 12 months. The correlation between time to rise from the floor and 6MWT at baseline was high (r = 0.6, p

OBJECTIVE: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. METHODS: We applied an NGS-based platform named MotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as being affected by limb-girdle muscular dystrophy or congenital myopathy. RESULTS: MotorPlex provided a complete molecular diagnosis in 218 cases (43.3%). A further 160 patients (31.7%) showed as yet unproven candidate variants. Pathogenic variants were found in 47 of 93 genes, and in more than 30% of cases, the phenotype was nonconventional, broadening the spectrum of disease presentation in at least 10 genes. CONCLUSIONS: Our large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions. Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. Methods: We applied an NGS-based platform namedMotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as being affected by limb-girdle muscular dystrophy or congenital myopathy. Results: MotorPlex provided a complete molecular diagnosis in 218 cases (43.3%). A further 160 patients (31.7%) showed as yet unproven candidate variants. Pathogenic variants were found in 47 of 93 genes, and in more than 30%of cases, the phenotype was nonconventional, broadening the spectrum of disease presentation in at least 10 genes. Conclusions: Our large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.

Direct metal laser sintering (DMLS) is an additive manufacturing technique for the production of parts with complex geometry and it is especially appropriate for structural applications in aircraft and automotive industries. Aluminum-based metal matrix composites (MMCs) are promising materials for these applications because they are lightweight, ductile, and have a good strength-to-weight ratio This paper presents an investigation of microstructure, hardness, and tribological properties of AlSi10Mg alloy and AlSi10Mg alloy/TiB2 composites prepared by DMLS. MMCs were realized with two different compositions: 10% wt. of microsize TiB2, 1% wt. of nanosize TiB2. Wear tests were performed using a pin-on-disk apparatus on the prepared samples. Performances of AlSi10Mg samples manufactured by DMLS were also compared with the results obtained on AlSi10Mg alloy samples made by casting. It was found that the composites displayed a lower coefficient of friction (COF), but in the case of microsize TiB2 reinforcement the wear rate was higher than with nanosize reinforcements and aluminum alloy without reinforcement. AlSi10Mg obtained by DMLS showed a higher COF than AlSi10Mg obtained by casting, but the wear rate was higher in the latter case.

Interest in additive manufacturing (AM) has gained considerable impetus over the past decade. One of the driving factors for AM success is the ability to create unique designs with intrinsic characteristics as, e.g., internal channels used for hydraulic components, cooling channels, and heat exchangers. However, a couple of the main problems in internal channels manufactured by AM technologies are the high surface roughness obtained and the distortion of the channel shape. There is still much to understand in these design aspects. In this study, a cylindrical geometry for internal channels to be built with different angles with respect to the building plane in AlSi10Mg and Ti6Al4V alloys by selective laser melting was considered. The internal surfaces of the channels produced in both materials were analyzed by means of a surface roughness tester and by optical and electron microscopy to evaluate the effects of the material and design choices.

The Ni-based superalloys are widely used in aerospace and aeronautic industries, but building complex shape components with conventional technologies is expensive. Nowadays, it is possible to use techniques such as direct metal laser sintering (DMLS) process to overcome this problem. In the present report are summarized the activities performed at the Department of Applied Science and Technology (DISAT) of Politecnico di Torino and Istituto Italiano di Tecnologia (IIT) di Torino on the development of Ni-based superalloys produced by DMLS. More precisely, we have studied the microstructure architectures of Inconel 625 and Inconel 718 produced by M270 Dual Mode version and the impact of different heat treatments on their microstructures in order to meet the industrial requirements.

The paper deals with the effect of heat treatments on corrosion resistance of an AlSi10Mg alloy obtained by means of Direct Metal Laser Sintering. The tests were performed on as-processed alloy and after different post-heat treatment, covering stress relieving, annealing at high temperature and water quenching. Potentiodynamic and electrochemical impedance spectroscopy tests were carried out in aerated Harrison solution. The results show localized corrosion and selective penetrating attack at the border of melt pools on untreated or only stress relieved specimens. The selective attack was not observed after high temperature annealing. Modification of EIS plot evidenced galvanic coupling with silicon coarse particles that extensively precipitate during high temperature annealing. The morphology of precipitates is described in order to evidence their relevance in terms of rising selective penetrating attack and galvanic coupling.

The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the individual measures, their correlation with steroid treatment, age and 6 minute walk test values at baseline. Ninety-six patients from 11 centers were assessed at baseline and 12, 24 and 36 months after baseline using the 6 minute walk test and the North Star Ambulatory Assessment. Three boys (3%) lost the ability to perform the 6 minute walk test within 12 months, another 13 between 12 and 24 months (14%) and 11 between 24 and 36 months (12%). The 6 minute walk test showed an average overall decline of -15.8 (SD 77.3) m at 12 months, of -58.9 (SD 125.7) m at 24 months and -104.22 (SD 146.2) m at 36 months. The changes were significantly different in the two baseline age groups and according to the baseline 6 minute walk test values (below and above 350 m) (p0.001). The changes were also significantly different according to steroid treatment (p = 0.01). Similar findings were found for the North Star Ambulatory Assessment. These are the first 36 month longitudinal data using the 6 minute walk test and North Star Ambulatory Assessment in Duchenne muscular dystrophy. Our findings will help not only to have a better idea of the progression of the disorder but also provide reference data that can be used to compare with the results of the long term extension studies that are becoming available.

Agile and versatile legged robots are expected to become useful machines for applications in unstructured environments where traditional vehicles with wheels and tracks cannot go. Hydraulic actuation has proven to be a suitable actuation technology due to its high power density, robustness against impacts and high stiffness for high bandwidth control. In this paper we demonstrate how additive manufacturing (AM) can produce highly integrated hydraulic components with reduced weight and higher complexity when compared to traditionally manufactured manifolds. To the best knowledge of the authors, this is the first time a successful implementation of direct metal laser sintering (DMLS) of hydraulic manifolds made in aluminium alloy AlSiMg is presented. AlSiMg has several advantages for the construction of hydraulic components when compared to the commonly used Titanium alloys (e.g. Ti64): lower cost, higher thermal conductivity, lower density and easier to post-process. This paper first explains the build process with DMLS of AlSiMg and a pre-study of a pressure-tested hydraulic tube that demonstrated the suitability of AlSiMg for AM hydraulic components. Then, we discuss part orientation and support material during the build process of a highly-integrated hydraulic manifold for the legs of IIT's new hydraulic quadruped robot HyQ2Max. A comparison of this manifold with a traditionally manufactured alternative concludes the paper.

This paper reports the investigation carried out jointly by CNR-IEIIT and IIT on the applicability of the selective laser melting technology to the fabrication of waveguide filters operating in the Ku/K band [12, 22] GHz for satellite communication. Two test samples in titanium and aluminum alloys have preliminary been developed to evaluate the relevant RF characteristics of components built with this technology. Subsequently, a fifth-order stop-band filter in WR51 has been designed, manufactured and successfully tested.

The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the individual measures, their correlation with steroid treatment, age and 6 minute walk test values at baseline. Ninety-six patients from 11 centers were assessed at baseline and 12, 24 and 36 months after baseline using the 6 minute walk test and the North Star Ambulatory Assessment. Three boys (3%) lost the ability to perform the 6 minute walk test within 12 months, another 13 between 12 and 24 months (14%) and 11 between 24 and 36 months (12%). The 6 minute walk test showed an average overall decline of -15.8 (SD 77.3) m at 12 months, of -58.9 (SD 125.7) m at 24 months and -104.22 (SD 146.2) m at 36 months. The changes were significantly different in the two baseline age groups and according to the baseline 6 minute walk test values (below and above 350 m) (p

Objectives: Our aim was to conduct a comparative study in a large cohort of myopathic patients carrying LMNA gene mutations to evaluate clinical and molecular features associated with different phenotypes. Methods: We performed a retrospective cohort study of 78 myopathic patients with LMNA mutation and 30 familial cases with LMNA mutation without muscle involvement. We analyzed features characterizing the various forms of LMNA -related myopathy through correlation statistics. Results: Of the 78 patients, 37 (47%) had limb-girdle muscular dystrophy 1B (LGMD1B), 18 (23%) congenital muscular dystrophy (MDCL), 17 (22%) autosomal dominant Emery-Dreifuss muscular dystrophy 2 (EDMD2), and 6 (8%) an atypical myopathy. The myopathic phenotypes shared a similar cardiac impairment. Cardioverter defibrillator or pacemaker was implanted in 41 (53%) myopathic patients compared to 7 (23%) familial cases without muscle involvement ( p = 0.005). Heart transplantation was performed in 8 (10.3%) myopathic patients and in none of the familial cases. Ten (12.8%) myopathic patients died; there were no deaths among the familial cases ( p = 0.032). Missense mutations were found in 14 patients (82%) with EDMD2 and 14 patients (78%) with MDCL compared to 17 patients (45%) with LGMD1B and 4 (67%) atypical patients. Frameshift mutations were detected in 17 (45%) LGMD1B compared to 3 (18%) EDMD2, 1 (6%) MDCL, and 2 (33%) with atypical myopathy ( p = 0.021). Furthermore, frameshift mutations were found in 30 of 73 patients (41%) with heart involvement compared to 4 of 35 (11%) without heart involvement ( p = 0.004). Conclusions: Our data provided new insights in LMNA -related myopathies, whose natural history appears to be dominated by cardiac involvement and related complications.

ObjectiveIn the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period.MethodsThe 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later. The results were analysed using a test for heterogeneity in order to establish possible differences among different types of mutations (deletions, duplications, point mutations) and among subgroups of deletions eligible to skip individual exons.ResultsAt baseline the 6MWD ranged between 180 and 560,80 metres (mean 378,06, SD 74,13). The 12 month changes ranged between -325 and 175 (mean -10.8 meters, SD 69.2). Although boys with duplications had better results than those with the other types of mutations, the difference was not significant. Similarly, boys eligible for skipping of the exon 44 had better baseline results and less drastic changes than those eligible for skipping exon 45 or 53, but the difference was not significant.Conclusionseven if there are some differences among subgroups, the mean 12 month changes in each subgroup were all within a narrow Range: from the mean of the whole DMD cohort. This information will be of help at the time of designing clinical trials with small numbers of eligible patients.

Purpose – The aim of this research is to reach a deep understanding on the effect of the process parameters of Direct Metal Laser Sintering process (DMLS) on macroscopic properties (hardness and density) of AlSi10Mg parts and resulting microstructure. Design/methodology/approach – A full factorial design of experiment (DOE) was applied to determine the most significant process parameter influencing macroscopic properties of AlSi10Mg parts manufactured by DMLS process. The analysis aims to define the optimum process parameters and deduce the process window that provides better macroscopic properties of AlSi10Mg parts. Optical microscopy observations are carried out to link the microstructure to macroscopic properties. Findings – Macroscopic properties of DMLS parts are influenced by the change in process parameters. There is a close correlation between the geometry of scan tracks and macroscopic properties of AlSi10Mg parts manufactured by DMLS process. Originality/value – The knowledge of utilizing optimized process parameters is important to fabricate DMLS parts with better mechanical properties. The present research based on applying experimental design is the first analysis for AlSi10Mg parts produced in DMLS process.

There was an error in the affiliation of author Antonella Pini. The correct affiliation for this author is: Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy

Direct metal laser sintering (DMLS) is an additive manufacturing (AM) technology for the fabrication of near netshapedparts directly from computer-aided design (CAD) data by melting together different layers with the helpof a laser source. Its application for manufacturing three- dimensional objects represents one of the promisingdirections to solve challenging industrial problems. This approach permits to extend significantly the freedom ofdesign and manufacture by allowing, for example, to create an object with desired shape and internal structurein a single fabrication step. The design of the part can be tailored to meet specific functions and properties(e.g. physical, mechanical, chemical, biological, etc.) using different materials. In this paper a DMLS machinewas used for robotic lightweight components fabrication in an aluminium alloy. It was observed that DMLStechnology not only achieved very interesting mechanical properties thanks to the very fine microstructure, butalso can easily promote the development and study of lightweight lattice structures. In addition, it is envisagedto develop new custom materials, such as light metal matrix composites, suitable for the DMLS process,broadening the range of applications in different fields like space, aviation, automotive and other industries.

Pt–Co alloys prepared by high energy ball milling synthesis were tested as electrocatalysts for hydrogen fueled Polymer Electrolyte Membrane Fuel Cells (PEMFC). In the present contribution we report on the first results regarding the electrochemical behaviour of two samples of Pt–Co alloys. One sample contains 20 wt.% alloy Pt:Co in the molar ratio 0.25:0.75 and C 80 wt.% and the second one Pt:Co in the molar ratio 0.75:0.25 and C 80 wt.%. The electrochemically active surface (EAS) was determined by cyclic voltammetry data while the electrocatalyst performance in a real cell was obtained by assembling Membrane Electrode Assemblies (MEAs) with the considered sample at the cathode. The results obtained, though indicating a lower performance than all-Pt catalysts, are quite interesting as they point out the importance of the C/Pt, Nafion/Pt and Pt/Co ratios that exert a deep influence onto the cell performance.

For mobile applications, performance of polymer electrolyte membrane fuel cells (PEM-FCs) should be maintained with being exposed to subzero temperatures in winter time. To simulate such a situation, a single cell PEM-FC was operated at 70{degree sign}C, stopped, kept at -10{degree sign}C for 8 h, and heated to 80{degree sign}C for the next operation. The cell was unable to work. The degradation was attributed to freezing of water present inside the MEA, produced during operation, and remained in the PEMFC after the operation. To prevent the performance degradation, water was removed from the PEM-FC by supplying dry N2 to the PEM-FC before the cell temperature fell down to -10{degree sign}C. Several freezing/thawing cycles were operated to study the PEM-FC performance degradation. Effects of water freezing in the PEM-FC on the electrode structure were examined by SEM analysis.

Ordered mesoporous carbon (OMC) was used as catalyst (Pt) support in polymer electrolyte membrane fuel cells (PEMFC) with the aim of increasing its effectiveness towards the oxygen reduction reaction (ORR). The mesoporous carbon (CMK3 type) was synthesized as inverse replica of a silica template (SBA-15). Platinization was achieved by impregnation with chloroplatinic acid hexahydrate, H 2 PtCl 6 , followed by a reduction in H 2 flow at 573 K. Samples containing 20 wt% in Pt were prepared and characterized by ICP, XRD and HRTEM analysis. Structural and morphological analyses of the samples showed that the typical ordered mesoporous structure of CMK3 carbons is maintained after Pt insertion. The HRTEM analysis of the samples showed a homogeneous dispersion of platinum particles. The electro-catalyst performance was evaluated by manufacturing membrane electrodes assemblies (MEAs) containing the catalyst under study at the cathode (Pt load: 0.5 mg/cm 2 ). Tests were performed in a single fuel cell with an electrode surface area of 5 cm 2 . The results were also compared to the performances of a commercial catalyst tested in the same way.

Platinum catalysts supported on ordered mesoporous carbons (OMC) are described. The mesoporous carbon support, CMK3 type, was synthesised as an inverse replica of a SBA-15 silica template. The platinum catalysts (i.e. Pt 20 wt% and Pt 10 wt%, respectively), obtained through a conventional wet impregnation method, have been investigated to determine their structural characteristics and electrochemical behaviour. The electro-catalytic performance towards the oxygen reduction reaction (ORR) was compared to those of commercial Pt/C-Vulcan XTC72R (E-Tek) catalysts with the same Pt wt%, under the same experimental conditions. The two catalyst samples have allowed the effect of the variation of both the Pt to Nafion and Pt to the supporting carbon ratios to be studied. Electrochemical tests have been carried out in three different systems: a catalyst ink deposited on a glassy carbon rotating disk electrode (RDE), a gas diffusion electrode (GDE) in a three-electrode cell with H2SO4 as the electrolyte and a complete PEM single fuel cell. The first results indicate that the OMC performs slightly less well than commercial carbon supports, mainly in the complete fuel cell system. The data from the cell tests indicate a less effective distribution of Nafion on the OMC surface which, probably, decreases the platinum utilisation and the proton conductivity.

ObjectivesThe aim of the study was i) to assess the spectrum of changes over 24 months in ambulant boys affected by Duchenne muscular dystrophy, ii) to establish the difference between the first and the second year results and iii) to identify possible early markers of loss of ambulation.MethodsOne hundred and thirteen patients (age range 4.1-17, mean 8.2) fulfilled the inclusion criteria, 67 of the 113 were on daily and 40 on intermittent steroids, while 6 were not on steroids. All were assessed using the 6 Minute Walk Test (6MWT), the North Star Ambulatory Assessment (NSAA) and timed test.ResultsOn the 6MWT there was an average overall decline of -22.7 (SD 81.0) in the first year and of -64.7 (SD 123.1) in the second year. On the NSAA the average overall decline was of -1.86 (SD 4.21) in the first year and of -2.98 (SD 5.19) in the second year. Fourteen children lost ambulation, one in the first year and the other 13 in the second year of the study. A distance of at least 330 meters on the 6MWT, or a NSAA score of 18 at baseline reduced significantly the risk of losing ambulation within 2 years.ConclusionsThese results can be of help at the time of using inclusion criteria for a study in ambulant patients in order to minimize the risk of patients who may lose ambulation within the time of the trial.