Epigenetic and Genetic Factors Related to Curve Progression in Adolescent Idiopathic Scoliosis: A Systematic Scoping Review of the Current Literature

Adolescent idiopathic scoliosis (AIS) is a progressive deformity of the spine. Scoliotic curves progress until skeletal maturity leading, in rare cases, to a severe deformity. While the Cobb angle is a straightforward tool in initial curve magnitude measurement, assessing the risk of curve progression at the time of diagnosis may be more challenging. Epigenetic and genetic markers are potential prognostic tools to predict curve progression. The aim of this study is to review the available literature regarding the epigenetic and genetic factors associated with the risk of AIS curve progression. This review was carried out in accordance with Preferential Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. The search was carried out in January 2022. Only peer-reviewed articles were considered for inclusion. Forty studies were included; fifteen genes were reported as having SNPs with significant association with progressive AIS, but none showed sufficient power to sustain clinical applications. In contrast, nine studies reporting epigenetic modifications showed promising results in terms of reliable markers. Prognostic testing for AIS has the potential to significantly modify disease management. Most recent evidence suggests epigenetics as a more promising field for the identification of factors associated with AIS progression, offering a rationale for further investigation in this field.     

Cardiac Troponin Biosensor Designs: Current Developments and Remaining Challenges

Acute myocardial infarction (AMI) is considered as one of the main causes of death, threating human lives for decades. Currently, its diagnosis relies on electrocardiography (ECG), which has been proven to be insufficient. In this context, the efficient detection of cardiac biomarkers was proposed to overcome the limitations of ECG. In particular, the measurement of troponins, specifically cardiac troponin I (cTnI) and cardiac troponin T (cTnT), has proven to be superior in terms of sensitivity and specificity in the diagnosis of myocardial damage. As one of the most life-threatening conditions, specific and sensitive investigation methods that are fast, universally available, and cost-efficient to allow for early initiation of evidence-based, living-saving treatment are desired. In this review, we aim to present and discuss the major breakthroughs made in the development of cTnI and cTnT specific biosensor designs and analytical tools, highlighting the achieved progress as well as the remaining challenges to reach the technological goal of simple, specific, cheap, and portable testing chips for the rapid and efficient on-site detection of cardiac cTnI/cTnT biomarkers in order to diagnose and treat cardiovascular diseases at an incipient stage.     

A Short ERAP2 That Binds IRAP Is Expressed in Macrophages Independently of Gene Variation

The M1 zinc metalloproteases ERAP1, ERAP2, and IRAP play a role in HLA-I antigen presentation by refining the peptidome either in the ER (ERAP1 and ERAP2) or in the endosomes (IRAP). They have also been entrusted with other, although less defined, functions such as the regulation of the angiotensin system and blood pressure. In humans, ERAP1 and IRAP are commonly expressed. ERAP2 instead has evolved under balancing selection that maintains two haplotypes, one of which undergoing RNA splicing leading to nonsense-mediated decay and loss of protein. Hence, likewise in rodents, wherein the ERAP2 gene is missing, about a quarter of the human population does not express ERAP2. We report here that macrophages, but not monocytes or other mononuclear blood cells, express and secrete an ERAP2 shorter form independent of the haplotype. The generation of this “short” ERAP2 is due to an autocatalytic cleavage within a distinctive structural motif and requires an acidic micro-environment. Remarkably, ERAP2 “short” binds IRAP and the two molecules are co-expressed in the endosomes as well as in the cell membrane. Of note, the same phenomenon could be observed in some cancer cells. These data prompt us to reconsider the role of ERAP2, which might have been maintained in humans due to fulfilling a relevant function in its “short” form.     

Fighting the Huntington’s Disease with a G-Quadruplex-Forming Aptamer Specifically Binding to Mutant Huntingtin Protein: Biophysical Characterization,In Vitro and In Vivo Studies

A set of guanine-rich aptamers able to preferentially recognize full-length huntingtin with an expanded polyglutamine tract has been recently identified, showing high efficacy in modulating the functions of the mutated protein in a variety of cell experiments. We here report a detailed biophysical characterization of the best aptamer in the series, named MS3, proved to adopt a stable, parallel G-quadruplex structure and show high nuclease resistance in serum. Confocal microscopy experiments on HeLa and SH-SY5Y cells, as models of non-neuronal and neuronal cells, respectively, showed a rapid, dose-dependent uptake of fluorescein-labelled MS3, demonstrating its effective internalization, even in the absence of transfecting agents, with no general cytotoxicity. Then, using a well-established Drosophila melanogaster model for Huntington’s disease, which expresses the mutated form of human huntingtin, a significant improvement in the motor neuronal function in flies fed with MS3 was observed, proving the in vivo efficacy of this aptamer.     

Skin Inflammation Modulation via TNF-α, IL-17, and IL-12 Family Inhibitors Therapy and Cancer Control in Patients with Psoriasis

The systemic inflammatory syndrome concept is one of the foundations that stand at the basis of revolutionary modern and future therapies, based on the in-depth understanding of the delicate mechanisms that govern the collaboration between the systems and organs of the human body and, at the same time, the fine balance that ensures a reproach-free operation. An interesting concept that we propose is that of the environment-inadequacy status, a concept that non-specifically incorporates all the situations of the organism’s response disorders in the face of imprecisely defined situations of the environment. The correlation between these two concepts will define the future of modern medicine, along with the gene-adjustment mechanisms. Psoriasis is a clear example of an inadequate body response as a result of exposure to as of yet undefined triggers with an excessive systemic inflammatory reaction and hitherto insufficiently controllable. Modern biological therapies, such as TNF-α, IL-12 family, and IL-17 inhibitors, are intended to profoundly reshape the cytokine configuration of patients with inflammatory diseases such as psoriasis, with tremendous success in disease control. Yet, because of the important roles of cytokines in cancer promotion and control, concern was raised about the fact that the use of biologicals may alter immune surveillance and promote cancer progression. Both theoretical and practical data nevertheless showed that the treatment-induced control of cytokines may be beneficial for reducing the inflammatory milieu that promotes cancer and such have a beneficial role in maintaining health. We briefly present the intricate roles of those cytokine families on cancer control, with some debates on if their inhibition might or might not promote additional tumoral development.     

Rare earth organic complexes as down-shifters to improve Si-based solar cell efficiency

This work reports on the optical and electrical characterization of crystalline silicon based solar modules encapsulated with ethylene-vinyl-acetate layers (that is the encapsulating matrix used nowadays by the photovoltaic industry) doped with a single europium complex whose sensitized region is broadened due to the presence of a co-ligand. Such europium doped EVA layers are able to realize down-shifting of photons with wavelength lower than 460 nm without introducing modifications of the industrial process leading to the fabrication of the photovoltaic modules. This effect has been proven under Air Mass 1.5 conditions (simulating terrestrial applications), where a 2.9% relative increase of the total power delivered by the encapsulated modules has been observed, allowing a reduction in the watt-peak price.     

A posteriori optimization of parameters in stabilized methods for convection–diffusion problems – Part I

Stabilized finite element methods for convection-dominated problems require the choice of appropriate stabilization parameters. From numerical analysis, often only their asymptotic values are known. This paper presents a general framework for optimizing stabilization parameters with respect to the minimization of a target functional. Exemplarily, this framework is applied to the SUPG finite element method and the minimization of a residual-based error estimator, an error indicator, and a functional including the crosswind derivative of the computed solution. Benefits of the basic approach are demonstrated by means of numerical results.     

Advances on methane steam reforming to produce hydrogen through membrane reactors technology: A review

Methane steam reforming is the most common industrial process used for almost the 50% of the world’s hydrogen production. Commonly, this reaction is performed in fixed bed reactors and several stages are needed for separating hydrogen with the desired purity. The membrane reactors represent a valid alternative to the fixed bed reactors, by combining the reforming reaction for producing hydrogen and its separation in only one stage. This article deals with the recent progress on methane steam reforming reaction, giving a short overview on catalysts utilization as well as on the fundamentals of membrane reactors, also summarizing the relevant advancements in this field.     

Effect of P2O5 on the Structural and Magnetic Properties of Magnetite‐Based Glass‐Ceramics

The specific morphology and magnetic properties of magnetite‐based glass‐ceramics obtained by crystallization of Fe‐containing borosilicate glassmelts in the presence of P₂O₅ as nucleating agent are investigated. We found that the distribution of the tiny nanoparticles of magnetite determines the low temperature response to magnetic field. The observed effects are discussed with respect to the following factors: (1) the existence of a multimodal size distribution of the tiny grains as revealed by Mössbauer spectroscopy, magnetometry, and high‐resolution electron microscopy; (2) the existence of a disordered layer at the grain surface which is driven by field in a magnetically ordered state; and (3) the interplay between the relaxation mechanisms in different temperature ranges.     

Comparative analysis of the outdoor performance of a dye solar cell mini‐panel for building integrated photovoltaics applications

New generation photovoltaic (PV) devices such as polymer and dye sensitized solar cells (DSC) have now reached a more mature stage of development, and among their various applications, building integrated PVs seems to have the most promising future, especially for DSC devices. This new generation technology has attracted an increasing interest because of its low cost due to the use of cheap printable materials and simple manufacturing techniques, easy production, and relatively high efficiency. As for the more consolidated PV technologies, DSCs need to be tested in real operating conditions and their performance compared with other PV technologies to put into evidence the real potential. This work presents the results of a 3 months outdoor monitoring activity performed on a DSC mini‐panel made by the Dyepower Consortium, positioned on a south oriented vertical plane together with a double junction amorphous silicon (a‐Si) device and a multi‐crystalline silicon (m‐Si) device at the ESTER station of the University of Rome Tor Vergata. Good performance of the DSC mini‐panel has been observed for this particular configuration, where the DSC energy production compares favorably with that of a‐Si and m‐Si especially at high solar angles of incidence confirming the suitability of this technology for the integration into building facades. This assumption is confirmed by the energy produced per nominal watt‐peak for the duration of the measurement campaign by the DSC that is 12% higher than that by a‐Si and only 3% lower than that by m‐Si for these operating conditions. Copyright © 2013 John Wiley & Sons, Ltd.