Manufacturing of JT-60SA Cryostat Base

JT-60SA is a superconducting tokamak to be assembled and operated at the JAEA laboratories in Naka (Japan) [1]. The tokamak has been designed to prepare, support and complement the ITER experimental programme and will be manufactured and operated under the funding of the Broader Approach Agreement (between the government of Japan and the European Commission) and of the Japan Fusion National Programme. Within the European contribution to JT-60SA, Spain has to provide the cryostat. Due to functional purposes, the cryostat has been divided in two large assemblies: the Cryostat Base (CB) and the Cryostat Vessel Body the latter subdivided into Cryostat Vessel Body Cylindrical Section (CVBCS) and the Top Lid. Spain is committed to provide the design and subsequent manufacturing of the CB and CVBCS (excluding the Top Lid) through the National Laboratory of Fusion at Ciemat. The design of both components has been concluded and the CB is currently being manufactured by a Spanish company, IDESA. This paper aims to present the status of the manufacturing and pre-assembly at the factory of the CB that has to be delivered in November 2012.     

Lipid droplets as endogenous intracellular microlenses

Using a single biological element as a photonic component with well-defined features has become a new intriguing paradigm in biophotonics. Here we show that end...     

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a multi-testing genomic approach, including gene sequencing, Chromosome Microarray Analysis (CMA), and RT-qPCR gene expression assay, we searched for pathogenic alterations in ANKRD11. A molecular diagnosis was obtained in 22 out of 33 patients (67%). ANKRD11 sequencing disclosed pathogenic or likely pathogenic variants in 18 out of 33 patients. CMA identified one full and one terminal ANKRD11 pathogenic deletions, and one partial duplication and one intronic microdeletion, with both possibly being pathogenic. The pathogenic effect was established by RT-qPCR, which confirmed ANKRD11 haploinsufficiency only for the three deletions. Moreover, RT-qPCR applied to six molecularly unsolved KBGS patients identified gene downregulation in a clinically typical patient with previous negative tests, and further molecular investigations revealed a cryptic deletion involving the gene promoter. In conclusion, ANKRD11 pathogenic variants could also involve the regulatory regions of the gene. Moreover, the application of a multi-test approach along with the innovative use of RT-qPCR improved the diagnostic yield in KBGS suspected patients.     

A Quantitative Assay for Ca2+ Uptake through Normal and Pathological Hemichannels

Connexin (Cx) hemichannels (HCs) are large pore hexameric structures that allow the exchange of ions, metabolites and a variety of other molecules between the cell cytoplasm and extracellular milieu. HC inhibitors are attracting growing interest as drug candidates because deregulated fluxes through HCs have been implicated in a plethora of genetic conditions and other diseases. HC activity has been mainly investigated by electrophysiological methods and/or using HC-permeable dye uptake measurements. Here, we present an all-optical assay based on fluorometric measurements of ionized calcium (Ca²⁺) uptake with a Ca²⁺-selective genetically encoded indicator (GCaMP6s) that permits the optical tracking of cytosolic Ca²⁺ concentration ([Ca²⁺]_cyt) changes with high sensitivity. We exemplify use of the assay in stable pools of HaCaT cells overexpressing human Cx26, Cx46, or the pathological mutant Cx26G45E, under control of a tetracycline (Tet) responsive element (TRE) promoter (Tet-on). We demonstrate the usefulness of the assay for the characterization of new monoclonal antibodies (mAbs) targeting the extracellular domain of the HCs. Although we developed the assay on a spinning disk confocal fluorescence microscope, the same methodology can be extended seamlessly to high-throughput high-content platforms to screen other kinds of inhibitors and/or to probe HCs expressed in primary cells and microtissues.     

DOG1 as an Immunohistochemical Marker of Acinic Cell Carcinoma: A Systematic Review and Meta-Analysis

DOG1 is a transmembrane protein originally discovered on gastrointestinal stromal tumors and works as a calcium-activated chloride channel protein. There are a limited number of articles on the potential utility of this antibody in the diagnosis of salivary gland tumors in routine practice. In this study, we aimed to investigate the role of DOG1 as an immunohistochemical marker in patients with salivary acinic cell carcinoma (ACC) through meta-analysis. A literature search was performed of the PubMed, Scopus, and Web of Science databases for English-language studies published from January 2010 to September 2021. The literature search revealed 148 articles, of which 20 were included in the study. The overall rate of DOG1 expression in salivary acinic cell carcinoma was 55% (95% CI = 0.43–0.58). Although ACC is a challenging diagnosis, paying careful attention to the cytomorphological features in conjunction with DOG1 immunostaining can help to reach an accurate diagnosis.     

Cervicovaginal Microbiota Composition in Chlamydia trachomatis Infection: A Systematic Review and Meta-Analysis

In healthy women, the cervicovaginal microbiota is characterized by the predominance of Lactobacillus spp., whereas the overgrowth of anaerobic bacteria leads to dysbiosis, known to increase the risk of acquiring genital infections like Chlamydia trachomatis. In the last decade, a growing body of research has investigated the composition of the cervicovaginal microbiota associated with chlamydial infection via 16s rDNA sequencing, with contrasting results. A systematic review and a meta-analysis, performed on the alpha-diversity indices, were conducted to summarize the scientific evidence on the cervicovaginal microbiota composition in C. trachomatis infection. Databases PubMed, Scopus and Web of Science were searched with the following strategy: “Chlamydia trachomatis” AND “micro*”. The diversity indices considered for the meta-analysis were Operational Taxonomic Unit (OTU) number, Chao1, phylogenetic diversity whole tree, Shannon’s, Pielou’s and Simpson’s diversity indexes. The search yielded 425 abstracts for initial review, of which 16 met the inclusion criteria. The results suggested that the cervicovaginal microbiota in C. trachomatis-positive women was characterized by Lactobacillus iners dominance, or by a diverse mix of facultative or strict anaerobes. The meta-analysis, instead, did not show any difference in the microbial biodiversity between Chlamydia-positive and healthy women. Additional research is clearly required to deepen our knowledge on the interplay between the resident microflora and C. trachomatis in the genital microenvironment.     

Brown rot fungal early stage decay mechanism as a biological pretreatment for softwood biomass in biofuel production

A current barrier to the large-scale production of lignocellulosic biofuels is the cost associated with the energy and chemical inputs required for feedstock pretreatment and hydrolysis. The use of controlled partial biological degradation to replace elements of the current pretreatment technologies would offer tangible energy and cost benefits to the whole biofuel process. It has been known for some time from studies of wood decay that, in the early stages of growth in wood, brown rot fungi utilise a mechanism that causes rapid and extensive depolymerisation of the carbohydrate polymers of the wood cell wall. The brown rot hyphae act as delivery vectors to the plant cell wall for what is thought to be a combination of a localised acid pretreatment and a hydroxyl radical based depolymerisation of the cell wall carbohydrate polymers. It is this quality that we have exploited in the present work to enhance the saccharification potential of softwood forest residues for biofuel production. Here we show that after restricted exposure of pine sapwood to brown rot fungi, glucose yields following enzymatic saccharification are significantly increased. Our results demonstrate the potential of using brown rot fungi as a biological pretreatment for biofuel production.     

In situ spectroelectrochemical measurements during the electro-oxidation of ethanol on WC-supported Pt-black, based on sum-frequency generation spectroscopy

In this paper we report in situ sum-frequency generation (SFG) spectroscopy experiments, carried out during the electro-oxidation of ethanol on Pt-black supported on tungsten carbide (WC). Well-defined SFG resonances were measured in the 1320-1350 cm⁻¹ spectral range with the VIS beam set at 523.5 nm. The assignment of SFG bands was carried out with the aid of vibrational spectra calculated in the framework of Density Functional Theory (DFT). The spectra recorded in situ showed various kinds of changes in terms of spectral patterns and peak intensities, as a function of the applied potential and of the oxidation time, yielding information on the modification of the catalyst-adsorbate structure. To the best of the authors’ knowledge, this is the first in situ electrochemical SFG work carried out in this particular wavelength range - specially diagnostic for electrocatalysis and made accessible by use of the CLIO IR free-electron laser - and with an electrode functionalised with a real catalyst, in powder form.     

Unsteady inflow effects on the wake shed from a high-lift LPT blade subjected to boundary layer laminar separation

An experimental investigation on the near and far wake of a cascade of high-lift low-pressure turbine blades subjected to boundary layer separation over the suction side surface has been carried out, under steady and unsteady inflows. Two Reynolds number conditions, representative of take-off/landing and cruise operating conditions of the real engine, have been tested. The effect of upstream wake-boundary layer interaction on the wake shed from the profile has been investigated in a three-blade large-scale linear turbine cascade. The comparison between the wakes shed under steady and unsteady inflows has been performed through the analysis of mean velocity and Reynolds stress components measured at midspan of the central blade by means of a two-component crossed miniature hot-wire probe. The wake development has been analyzed in the region between 2% and 100% of the blade chord from the central blade trailing edge, aligned with the blade exit direction. Wake integral parameters, half-width and maximum velocity defects have been evaluated from the mean velocity distributions to quantify the modifications induced on the vane wake by the upstream wake. Moreover the thicknesses of the two wake shear layers have been considered separately in order to identify the effects of Reynolds number and incoming flow on the wake shape. The self-preserving state of the wake has been looked at, taking into account the different thicknesses of the two shear layers. The evaluation of the power density spectra of the velocity fluctuations allowed the study of the wake unsteady behavior, and the detection of the effects induced by the different operating conditions on the trailing edge vortex shedding.     

DFT study of interstitial hydrogen in tantalum lattice

Density Functional Theory computations are useful tools in the study of materials behaviour in presence of Hydrogen, and can be a valid help in the analysis of Hydrogen production processes and storage. In the present paper this technique is applied to Tantalum, a possible material for the realization of membranes for Hydrogen purification, resistant to highly corrosive environment (e.g. in the separation step in the Sulphur–Iodine process). A DFT study of the Tantalum lattice with interstitial Hydrogen at different concentrations is presented, with: a discussion on the preferential interstitial sites; a study of the displacements of Ta atoms caused by the Hydrogen presence, and of the interaction between two Hydrogens in the lattice; the calculation of the heat of solution and of the enlargement of the lattice at different Hydrogen concentrations; and, finally, the dependence of two elastic constants on the Hydrogen concentration, an important aspect in the study of the structural resistance of the material.