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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.

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 16–29 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 “non-carrier” status. Unexpectedly, the girl also showed an increased dosage of flanking exons 1–15 and 30–34. Using linked-read WGS, we were able to distinguish between the two X chromosomes. In the first allele, we found the 16–29 deletion, while the second allele showed a 1–34 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 16–29 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.

Eating Disorders (ED) are associated with multiple physical complications that strongly affect the physical health of these young and fragile patients and can also cause significant mortality, the highest among psychiatric pathologies. Among the various organic complications, albeit still little known, the gynecological implications, up to infertility, are very widespread. Both among adolescent and adult patients, gynecological symptoms can be very widespread and range from menstrual irregularities to amenorrhea, from vaginitis to ovarian polycystosis, up to complications during the gestational phase and in postpartum, in addition to the possible consequences on the unborn child. Among the most frequent and significant gynecological disorders in women with ED, there are menstrual irregularities that may occur with oligomenorrhea or even amenorrhea. This symptom, although no longer part of the DSM-5 diagnostic criteria for defining Anorexia Nervosa (AN), must be considered a very relevant event in the overall evaluation of young women and adolescents with eating disorders. Functional Hypothalamic Amenorrhea in ED patients is related to psychological distress, excessive exercise, disordered eating, or a combination of these factors which results in suppression of the hypothalamic- pituitary-ovarian axis, resulting in hypoestrogenism. The objective of this paper is to summarize the causes and the mechanism underlying the menstrual disorders and to provide a better understanding of the correlation between the reproductive system and the mechanisms that regulate food intake and eating habits. In addition, early recognition of risk factors for eating disorders for gynecological implications can help put more accurate assessments of patients to prevent potentially fatal complications. The importance of the involvement of specialist gynecologists in the multidisciplinary team that has to follow patients with eating disorders is also discussed.

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.

Myotonia congenita (MC) is a skeletal-muscle hyperexcitability disorder caused by loss-of-function mutations in the ClC-1 chloride channel. Mutations are scattered over the entire sequence of the channel protein, with more than 30 mutations located in the poorly characterized cytosolic C-terminal domain. In this study, we characterized, through patch clamp, seven ClC-1 mutations identified in patients affected by MC of various severities and located in the C-terminal region. The p.Val829Met, p.Thr832Ile, p.Val851Met, p.Gly859Val, and p.Leu861Pro mutations reside in the CBS2 domain, while p.Pro883Thr and p.Val947Glu are in the C-terminal peptide. We showed that the functional properties of mutant channels correlated with the clinical phenotypes of affected individuals. In addition, we defined clusters of ClC-1 mutations within CBS2 and C-terminal peptide subdomains that share the same functional defect: mutations between 829 and 835 residues and in residue 883 induced an alteration of voltage dependence, mutations between 851 and 859 residues, and in residue 947 induced a reduction of chloride currents, whereas mutations on 861 residue showed no obvious change in ClC-1 function. This study improves our understanding of the mechanisms underlying MC, sheds light on the role of the C-terminal region in ClC-1 function, and provides information to develop new antimyotonic drugs.

This paper provides an overview on the main additive manufacturing/3D printing technologies suitable for many satellite applications and, in particular, radio-frequency components. In fact, nowadays they have become capable of producing complex net-shaped or nearly net-shaped parts in materials that can be directly used as functional parts, including polymers, metals, ceramics, and composites. These technologies represent the solution for low-volume, high-value, and highly complex parts and products.

3D printing, also referred to as additive manufacturing — AM in the case of metal materials, allows fabricating complex shaped parts and devices in a single step. Extreme flexibility of AM techniques could pave the way to a revolution in conceiving heat transfer devices in the near future. Along this way, we designed and fabricated by AM an innovative heat sink incorporating Pitot tubes for realizing passive heat transfer enhancement. Preliminary tests show that the proposed heat sink allows up to 98% heat transfer augmentation, as compared to conventional heat sinks. We hope that this study will help in encouraging the community to explore novel approaches thus moving towards the design of new devices fully exploiting the 3D printing flexibility in the field of thermal engineering.

This work provides a broad overview of systematic experimental studies carried out to understand the factors governing the transition to a more occluded corrosion front during repassivation of Al alloys, which is manifested by the appearance of an inflection during polarization into the active region. The pit transition potential Eptp is more adequate in evaluating microstructural changes induced by corrosion. Similarly, reaction orders with respect to [Cl­], derived from relationships of iptp and log [Cl­], correlate with intermediate Al oxychloride species limiting passive film formation and/or complex reaction processes involving hydrogen production/uptake. The extent of corrosion propagation on a narrower front can be evaluated by the steepness of the potential decrease with current after the transition onset, as being proportional to local acidity removal. In order to prove thermodynamic and kinetic concepts, thus gaining insight into environmentally assisted cracking, the effect of applied load is being investigated for 7000 series Al alloys.

Highlights • We studied a CMD patient with structural brain abnormalities. • Next-generation sequencing identified a reported variant in TMEM5. • We expanded the spectrum of TMEM5-associated disorders., The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement. He also presented a cochlear dysplasia and harbored a reported mutation (p.A47Rfs*42) in TMEM5, detected using targeted next-generation sequencing. The relatively milder muscular phenotype and associated structural brain abnormalities distinguish this case from previously reported patients with severe dystroglycanopathies and expand the spectrum of TMEM5-associated disorders.

This work reports on the integration of RF functionalities in microwave waveguide components through the selective laser melting process. A specific integrated component has been developed for the relevant application domain of satellite communications. The component operates in the Ku-K bands and integrates a H-plane bend, a 90-deg twist and ninth-order pass-band filter. The AlSi10Mg prototype manufactured through selective laser melting exhibits excellent RF performances (return loss > 20 dB, insertion loss < 0.23 dB, and rejection > 60 dB), while significantly minimizing mass, envelope and mechanical complexity.

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.

Application of direct metal laser sintering for manufacturing three-dimensional objects represents one of the promising directions for the industries. Through this technology is possible to create an object with desired shape and material properties in order to meet a variety of applications. However, most reported applications are for static parts. There are only limited reports about direct rapid fabrication of mechanisms that could be considered as the core subsystems for many machine and robotic designs. So the main purposes of this study are the investigation and application of direct metal laser sintering (DMLS) in fabricating non-assembly mechanisms systems in AlSi10Mg and Ti6Al4 V alloys.

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.

Direct metal laser sintering (DMLS) is an additive manufacturing technique for the fabrication of near net-shaped parts directly from computer-aided design data by melting together different layers with the help of a laser source. This paper presents an investigation of the surface roughness of aluminum samples produced by DMLS. A model based on an L18 orthogonal array of Taguchi design was created to perform experimental planning. Some input parameters, namely laser power, scan speed, and hatching distance were selected for the investigation. The upper surfaces of the samples were analyzed before and after shot peening. The morphology was analyzed by means of field emission scanning electron microscope. Scan speed was found to have the greatest influence on the surface roughness. Further, shot peening can effectively reduce the surface roughness.

Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.

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.

Additive Manufacturing (AM) technologies represent a solution for enabling astronauts to manufacture parts in situ, as needed, starting from feedstock material. The importance of these capabilities are particularly evident in manned space exploration missions, e.g. on human Mars missions, for which cargo capacity is paramount key factor in order to supply the astronauts with everything they may need during the mission, but at the same time is a severely constrained resource. Also, AM technologies enhance freedom of shape optimization for mass savings, compared to conventional manufacturing processes, thus helping in reducing overall mass at launch. The capability to make parts in space, during the mission, would allow a dramatic reduction of the mass transported to the destination site and would also help astronauts in solving any unexpected problems that may occur during a space mission: if the Apollo had been equipped with a 3d printer, the filter housing with a suitable interface could have been easily manufactured by astronauts using Additive Manufacturing technology. The Portable on-Orbit Printer 3D represents the first European additive manufacturing experiment in space. The Printer implements the Fused Deposition Modelling (FDM) process for the fabrication of parts using PLA, a biocompatible thermoplastic polymer. The objective of the experiment is to validate the 3D printing technology in microgravity and to pave the way for an Italian and European development of the additive manufacturing technology on board the ISS and, more in general, in space. This paper will present the results of the demonstration activities performed with “Portable on-Orbit Printer 3D” while its permanence on board the International Space Station. It also presents the analysis performed on the on orbit “printed” part, in comparison with the same part “printed” on ground.

A combined experimental and numerical study on the variation of the elastic properties of defective single-crystal diamond is presented for the first time, by comparing nano-indentation measurements on MeV-ion-implanted samples with multi-scale modeling consisting of both ab initio atomistic calculations and meso-scale Finite Element Method (FEM) simulations. It is found that by locally introducing defects in the 2 × 10 18 –5 × 10 21 cm −3 density range, a significant reduction of Young’s modulus, as well as of density, can be induced in the diamond crystal structure without incurring in the graphitization of the material. Ab initio atomistic simulations confirm the experimental findings with a good degree of confidence. FEM simulations are further employed to verify the consistency of measured deformations with a stiffness reduction, and to derive strain and stress levels in the implanted region. Combining these experimental and numerical results, we also provide insight into the mechanism responsible for the depth dependence of the graphitization threshold in diamond. This work prospects the possibility of achieving accurate tunability of the mechanical properties of single-crystal diamond through defect engineering, with significant technological applications, e.g. the fabrication and control of the resonant frequency of diamond-based micromechanical resonators.

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.

In this work, thermal degradation of commercial polymer mixtures was evaluated as a promising approach to the production of ceramic brake components. Currently, there is a wide interest for the production of cost effective ceramic pads, and carbon based materials are good candidates both in monolithic form and as porous networks to be reinfiltrated with a convenient polymer. The process parameters for obtaining porous glassy carbon, starting from mixtures of commercial polymers, have been evaluated in this work with the goal of producing samples with optimised mechanical properties. A preliminary study of the pyrolysis process has been carried out using thermogravimetric analysis coupled with mass spectrometry Raman spectroscopy and field emission scanning electron microscopy coupled with energy dispersive X-ray in order to define the feasibility of the method and to point out the critical issues. Mechanical tests have been performed in order to understand the relation between the carbonisation pr...

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.

Laser powder bed fusion is one of the most widely used additive manufacturing process owing to its ability to produce functional near net shape metal components. This paper focuses on the microstructural and mechanical characterization of four aluminum matrix composites produced by laser powder bed fusion using AlSi10Mg as matrix with four different ceramic particles. On the basis of the building parameters, composites present specific microstructural features able to influence the strengthening mechanisms and, consequently, their mechanical and thermal properties. It is demonstrated that, in order to obtain dense materials, in composite processing, it is indispensable to use energy densities which are higher than that of the matrix. This change in process parameters probably implies a different heat profile in the part during the building process, with a consequent increase in cell size and decrease in yield strength of the MMCs with respect to the pure aluminum.

The aim of this review is to analyze and to summarize the state of the art of the processing of aluminum alloys, and in particular of the AlSi10Mg alloy, obtained by means of the Additive Manufacturing (AM) technique known as Selective Laser Melting (SLM). This process is gaining interest worldwide, thanks to the possibility of obtaining a freeform fabrication coupled with high mechanical properties related to a very fine microstructure. However, SLM is very complex, from a physical point of view, due to the interaction between a concentrated laser source and metallic powders, and to the extremely rapid melting and the subsequent fast solidification. The effects of the main process variables on the properties of the final parts are analyzed in this review: from the starting powder properties, such as shape and powder size distribution, to the main process parameters, such as laser power and speed, layer thickness, and scanning strategy. Furthermore, a detailed overview on the microstructure of the AlSi10Mg material, with the related tensile and fatigue properties of the final SLM parts, in some cases after different heat treatments, is presented.

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

In this chapter a large description of additive manufacturing techniques for obtaining Al alloys and Al matrix composites is given. Results on mechanical properties, roughness and microstructure achievable with such fabrication route on Al alloys are reported