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Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders.

The Ti6Al4V alloy has been applied in situations where mechanical strength, corrosion resistance and biocompatibility are the concern, as in permanent biomedical implants. These material properties are straightly correlated with the microstructure morphology as grain size and crystallographic phases, which is very dependent of the thermal mechanical history and the chemical composition. The Ti6Al4V harmonic structure was primarily achieved by means of Mechanical Ball Milling (MBM) and Spark Plasma Sintering (SPS) using pre-alloyed powder from the plasma rotating electrode processes (PREP). This work aimed at developing the harmonic microstructure by MBM and SPS using pre-alloyed gas atomized powder (GAP). The chemical composition, the microstructure and the hardness were evaluated for the sintered samples and for the commercial wrought annealed conditions, for comparison. The harmonic structure obtained consists of cores containing alpha lath coarse grains surrounded by a three-dimensional network of fine equiaxial grains, while the wrought material shows equiaxial alpha grains in a matrix of beta phase microstructure. The sintered material revealed higher hardness than the wrought alloy.

Aim To establish a mouse model for the study of congenital defects, using exposure of pregnant females to the teratogen BMS-189453, a multiple retinoic acid competitive antagonist. Aim We found not less than 60% of fetuses had transposition of the great arteries and l5% had other congenital heart defects such as double outlet right ventricle, tetralogy of Fallot, truncus and right aortic arch. Newborns exposed in utero to BMS-189453 were affected by thymus aplasia or hypoplasia, and severe congenital anomalies of the central nervous system due to neural tube defects. An anterior rotation of the right lung was also frequently present in our model. We also report a case of murine congenital diaphragmatic hernia associated with thymic aplasia and transposition of the great arteries. Conclusion These findings support the hypothesis that the combination of diaphragmatic hernia and congenital heart defects may be related to an alteration of the retinoic acid signaling pathways.

"Apple peel" intestinal atresia is a rare form of small bowel atresia, in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply, in a spiral resembling an apple peel. The etiology of "apple peel" intestinal atresia is presently unknown, although a congenital or acquired intestinal vascular accident can have a role in the pathogenesis. We report a family in which the proband affected by "apple peel" intestinal atresia, had a sibling (an interrupted pregnancy), and a paternal cousin with cardiac left-sided obstructive lesions. Molecular testing for NOTCH1 gene was carried out in the proband, because pathogenic mutations in this gene have been associated with familial and sporadic cardiac left-sided obstructive lesions and vascular anomalies, both isolated or within the spectrum of the Adams-Oliver syndrome (AOS). The heterozygous c.2734C>T (p.Arg912Trp) NOTCH1 variant was found in the proband with "apple peel" intestinal atresia and in his father. This result argues for a possible causal relationship between NOTCH1 gene mutations and some forms of intestinal defects, through a vascular mechanism. The spectrum of NOTCH1-associated malformations is widened. Genetic counseling should take into account intrafamilial variable clinical expression and incomplete penetrance.

The aim of this work was to study the corrosion process of new aluminium alloy AA2524-T3 (Solution Heat Treated and Cold Worked), which is a promising substitute of the base line AA2024-T3 for aircrafts fabrication, by global and localised techniques in sodium chloride medium (0.05 mol L-1 NaCl). The open circuit potential results revealed a stochastic evolution of pitting events and to the resulting variations in the ratio of passive/active areas and/or cathode/anode, which may be related to the presence of different types of intermetallics. The cyclicvoltammetry showed that the corrosion potential (Ecorr) and the pit nucleation potential (E pit) values are quite similar (approximately -0.525 V). The results of EIS show that the corrosion rate is quite stable, with no tendency to increase or decrease for longer immersion periods. The results of SVET were in agreement with the results obtained by EIS technique, showing strong anodic activity on the surface with no repassivation along the whole immersion time. Besides, corrosion process led to significant surface degradation after 24h.

Political Science is widely considered to be an established academic discipline, even in a country like Italy, where the penetration of empirical social science has been deeply constrained historically and culturally, and where there has been a clear predominance of other academic disciplines, includinghistory and constitutional law.Twenty years after the introduction of the so-called ‘Bologna Process’, and a few years after the implementation of the 2010 reform of the public higher education system, it is worth looking for a comprehensive description of the state of our academic discipline. This can be done by exploring some data about the role of Political Science within the Italian university system.More in detail, three aspects of the current state of Italian Political Science will be explored. Firstly, the dynamics of the educational ‘demand’ for Political Science is here explored through an analysis of its presence in relevant Bachelor’s and Master’s degrees. This is even more interesting given the two dangers in the academic presence of PoliticalScience: reiterated criticisms against the uselessness of social sciences, and the effects of at least two decades of anti-political sentiment, particularly diffused among younger cohorts of students. The second aspect tackled here is the capability of Political Science practitioners to respond to these challenges by presenting a credible set of academic subjects and increasing its visibility among stu-dents. Third, we will discuss the overall reaction of the community of political scientists to these decisive challenges by looking at the magnitude and variance of academic recruitment in the Political Science academic community currently active in Italy.The evidence presented in the article will offer some reasons for optimism, namely, the stability of the student population and the crystallisation of Political Science in the overall teaching supply. However, some critical elements are also evident: a persistent geographical imbalance in the spread of Political Science and difficulty in adapting to some new professional and inter-disciplinary courses. This will lead us to discuss, in the final part of the article, a grid of more specific and fine-tuned research questions on the future of Political Science in Italy.

This chapter seeks to analyse the actual impact of the 2018 Italian general election on the political and social profile of the Italian parliamentary elite. The two basic questions addressed here are as follows: Is the extent of change brought about by the election comparable to the changes brought about between 2006 and 2013? Are the MPs coming from the two parties supporting the new government (the League and the Five-star Movement) substantially different from those coming from mainstream parties? To address these questions, this chapter provides an in-depth analysis of the political composition of the Lower House elected in 2018 compared to those of the past twelve years. The chapter discusses a typology of MPs to assess changes that have taken place over the course of the past few legislatures. Then, an analysis of the evolution of the different patterns of political selection and political career, across time and by party, is offered.

It’s proposed a single methodology for the encapsulation of Aloe vera oil or microalgae fatty acids using the complex coacervation process between gelatin and gum arabic. Although a very recurrent method, it is not trivial to establish a single coacervation methodology to encapsulate different compounds. The optimal synthesis conditions, that resulted in the best yield and encapsulation efficiency, are 1:1 (m/m) wall-to-core ratio, a temperature of 40°C and agitation speed of 10,000 rpm. Optical microscopy analysis revealed that the microcapsules are spherical, have average diameters of 112 μm (A. vera) and 118 μm (microalgae) and do not form agglomerates. The microcapsules were characterized by the osmotic pressure at which they ruptured, allowing the calculation of their mechanical resistance, which resulted in 392 MPa (A. vera) and 425 MPa (microalgae). The presented optimized methodology to encapsulate both compounds aims to contribute to their efficient and rational use, especially in cosmeceutical applications.

Degenerative diseases, such as osteoarthritis, osteoporosis and accidents can cause hip problems and injuries leading to a necessary hip prosthetic replacement. Acetabular and femoral prosthesis parts, consisting of special alloys of steel and titanium, are fixed to the bones using orthopedic cement based on poly(methyl methacrylate) (PMMA). With aim of improving implant material properties in terms of compatibility with the human body, were evaluated the bioactive responses of ISO 5832-9 steel and Ti6Al4V alloy coated with electrospun PMMA nanofibers. The electrospinning technique is widely used due to the possibility of easily producing fibers within nano or micrometric scale using a low cost, simple experimental apparatus that allows large-scale production. In this work the metallic substrates were submitted to surface pretreatments with sanding alone or in combination with acid etching. After deposition by electrospinning, the surfaces were characterized morphologically, chemically, and for roughness. PMMA fibers were obtained, with nanometric diameter, forming a uniform and homogeneous layer over both metal sample surfaces without appreciable differences in adhesion. The sanded surface, being a one-step process, was chosen for the next step. Fibroblasts were grown on the sample surfaces, for seven days, to determine biocompatibility. Electrospinning Induced Surface Activation (EISA) was used to incorporate hydroxyl radicals into the PMMA chain to produce hydroxylated PMMA, that was later redissolved and electrospun into nanofibers. Both samples (PMMA and PMMA-OH nanofibers) resulted in good cell adhesion properties. However, a denser cell monolayer was observed on the hydroxyl-terminated sample, indicating better cell-material interaction. Hydroxyl (OH) functionalized molecules can regulate cell behavior acting as a linker capable of reacting with proteins, thus accelerating cell growth, migration, differentiation, synthesis of extracellular matrix components, and tissue morphogenesis. By a simple two-step methodology it was possible to obtain electrospun hydroxyl functionalized bioactive PMMA nanofibers deposited on metallic implant samples with an increased cell response.

This article analyses how personal vote shapes electoral competition and predicts electoral results in a regional de-institutionalized party system. After having analysed the connection between unpredictable political environment and personal vote, we build an original empirical model that explores preferential vote and patterns of re-candidacies and endorsements of the most voted candidates in the Calabrian regional elections. The analysis shows that leading candidates retain a more stable and predictable support over time with respect to parties and that candidates and their system of interactions are able to predict the electoral results better than parties and their alliances.

Concretes with 1% nano-Fe 3 O 4 addition aged for 300 days in chloride and sulfur dioxide chambers were analyzed by multiple technics and the performance results were evaluated by impedance spectroscopy and cyclic voltammetry. They exhibited a higher electrochemical stability because of the absence of passive film breakdown and an enhanced electrical resistance to charge transfer. The better properties were resulted from a more homogeneous microstructure produced by the byproducts of the reaction between the cement hydrates and the added nano-material. They were supposed be accumulated in pores and voids.

Sprengel anomaly (SA) is a rare skeletal defect characterized by uni- or bi-lateral elevation of the scapula. This anomaly is often isolated, although it can occur in association with other defects, including cervical spine malformations, cleft palate, and facial anomalies. Neural crest migration anomalies have been involved in the etiology of SA. Since the same embryological pathway accounts for some of the clinical features of deletion 22q11.2 syndrome (del22q11.2; DiGeorge/Velo-Cardio-Facial syndrome), we investigated the occurrence of SA in a consecutive series of 235 del22q11.2 patients aged more than 2 years, undergoing a complete clinical and orthopedic assessment of the dorsal and thoracic skeleton. In the present series, two patients were diagnosed with true SA. Present results and published reports suggest that scapular involvement including SA occurs in 1-2% of del22q11.2 individuals. Accordingly, this anomaly should be investigated as one of the possible skeletal findings of del22q11.2 syndrome, while this diagnosis should be excluded in patients presenting with SA associated with other defects.

Dual-functional poly(urea-formaldehyde) microcapsules, containing the healing agent linseed oil in the core and the corrosion inhibitor benzotriazole (BTA) in the multilayer shell, were synthesized by in situ polymerization. A layer-by-layer assembly technique was applied using the biopolymers alginate and chitosan as oppositely charged polyelectrolytes. The microcapsules were characterized concerning their composition, surface charge, and morphology, using FTIR, TG, zeta potential measurements and SEM. The capsules are spherical, with an average diameter of 0.99 ± 0.15 μm. The encapsulation of linseed oil was confirmed by FTIR and TG. The adsorption of the multilayers was monitored by zeta potential measurements. The release of BTA, in a solution of NaCl and at different pH values, was studied by UV–Vis spectrophotometry, showing the stimulus-responsive behavior of the microcapsules. The corrosion protection performance was investigated by electrochemical impedance spectroscopy (EIS), using a carbon steel substrate coated with epoxy resin loaded with 5 wt% microcapsules. The EIS results showed that the presence of microcapsules provided better protection compared to the pure resin coating, with average RP three times higher.

Gordaite (NaZn4(OH)6SO4Cl·6H2O) is a mineral from the layered hydroxide salts (LHS) family that presents both cation- and anion-exchange properties, which is rare in this class of materials, having then called much attention lately due to its interesting potential applications. Sharing similar layered structure and composition, gordaite’s non-cation-exchanger analogous such as osakaite (Zn4(OH)6SO4·5H2O) and simonkolleite (Zn5(OH)8Cl2·H2O) show the possibility of interconversion reactions, in dynamics that might be of interest in technological applications such as corrosion protection. The materials can act as stimuli-responsive nanocontainers for storing corrosion inhibitors between the layers that might then be released on demand and avoid corrosion reactions on metals and alloys. In this work, we study the different methodologies for obtaining these LHS by synthesizing them by the oxide hydrolysis, co-precipitation by increasing pH and electrochemical methods, and comparing the obtained results.

Biopolymeric microspheres containing corrosion inhibitor benzotriazole (BTA) were prepared by a spray-drying technique using carboxymethylcellulose (CMC-Na) as encapsulating material. The resulting microspheres were characterized by FTIR, TGA, SEM and TEM analysis. Microspheres containing BTA have an average diameter of 1.1 μm. FTIR analysis confirmed the presence of the core and encapsulating components. The release studies by UV−Vis spectrophotometry showed that the mechanism of inhibitor release from CMC-Na biopolymeric matrix is based on a hydrogel-swelling-driven mechanism triggered by water presence. Electrochemical impedance spectroscopy (EIS) measurements on bare carbon steel in NaCl solution revealed that the presence of CMC-Na does not affect the corrosion inhibition mechanism associated with BTA. Furthermore, the microcapsules were added to an epoxy coating and its active corrosion protection performance was also investigated by EIS. The results obtained indicate that capsules loaded with BTA do not affect negatively the barrier properties of the coating, and contribute for the enhancement of the corrosion protection of the metallic substrate. Therefore, this work shows the potential application of carboxymethylcellulose microspheres for development of new environmentally-friendly microcontainers for corrosion inhibitors.

Renal medullary hypoxia may contribute to cardiac surgery-associated acute kidney injury (AKI). However, the effects of cardiopulmonary bypass (CPB) on medullary oxygenation are poorly understood. Here we tested whether CPB causes medullary hypoxia and whether medullary oxygenation during CPB can be improved by increasing pump flow or mean arterial pressure (MAP). Twelve sheep were instrumented to measure whole kidney, medullary, and cortical blood flow and oxygenation. Five days later, under isoflurane anesthesia, CPB was initiated at a pump flow of 80 mL kg-1min-1 and target MAP of 70 mm Hg. Pump flow was then set at 60 and 100 mL kg-1min-1, while MAP was maintained at approximately 70 mm Hg. MAP was then increased by vasopressor (metaraminol, 0.2-0.6 mg/min) infusion at a pump flow of 80 mL kg-1min-1. CPB at 80 mL kg-1min-1 reduced renal blood flow (RBF), -61% less than the conscious state, perfusion in the cortex (-44%) and medulla (-40%), and medullary Po2 from 43 to 27 mm Hg. Decreasing pump flow from 80 to 60 mL kg-1min-1 further decreased RBF (-16%) and medullary Po2 from 25 to 14 mm Hg. Increasing pump flow from 80 to 100 mL kg-1min-1 increased RBF (17%) and medullary Po2 from 20 to 29 mm Hg. Metaraminol (0.2 mg/min) increased MAP from 63 to 90 mm Hg, RBF (47%), and medullary Po2 from 19 to 39 mm Hg. Thus, the renal medulla is susceptible to hypoxia during CPB, but medullary oxygenation can be improved by increasing pump flow or increasing target MAP by infusion of metaraminol.

Tese (doutorado)—Universidade de Brasília, Instituto de Ciências Exatas, Departamento de Matemática, 2018. Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) e Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). Obtemos uma transformação de Bäcklund entre superfı́cies mı́nimas em Nil3 aplicando uma correspondência de Calabi entre uma superfı́cie CMC-1/2 em L3 e sua superfı́cie associada em Nil3 e fazendo uma transformação de Ribaucour na superfı́cie original relacionamos a geometria dessas duas superfı em L3. Em seguida, ́cies usando a segunda forma de Abresch- Rosenberg. Adiante, estendemos a definição de superfı́cies mı́nimas de Laguerre a formas espaciais enquanto relacionamos estas às superfı́cies mı́nimas em L3 e mı́nimas em outros espaços produto M2(k) × R e M2 (k) × R1 , com k = ±1. We obtain a Bäcklund transformation between minimal surfaces in Nil3 by performing a Calabi correspondence between a CMC-1/2 surface in L3 and its associated minimal surface in Nil3 and sau Rrfiabcaeusc ouusrin tgra tnhsef oArmbr eosnc hth-eR oosreigninbaelr gs usrefaccoen din foLr3m .. NFeuxrtth, ewrem orerela,t ew eth ee xgteenodm ethtrey doef fbinoittiho nth oefs ea Laguerre minimal surface to space forms whilst relating these to the minimal immersions on L3 and minimal surfaces on other product spaces M2(k) × R and M2 (k) × R1 , with k = ±1.

Human beings are characterized by a left–right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left–right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy. In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries—which are particularly frequent in the setting of heterotaxy—are commonly found in situs solitus with or without genetic syndromes. Here, we review current data on morphogenesis of the heart in human beings and animal models, familial recurrence, and upstream genetic pathways of left–right determination in order to highlight how some isolated congenital heart diseases, very common in heterotaxy, even in the setting of situs solitus, may actually be considered in the pathogenetic field of laterality defects.

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms. However, further studies are still needed to better determine the true prevalence of CHDs in 22q11.2DS, including data from prenatal studies and on the adult population, to further clarify the genetic mechanisms behind the high variability of phenotypic expression of 22q11.2DS, and to fully understand the mechanism responsible for the increased postoperative morbidity and for the premature death of these patients. Moreover, the increased life expectancy of persons with 22q11.2DS allowed the expansion of the adult population that poses new challenges for clinicians such as acquired cardiovascular problems and complexity related to multisystemic comorbidity. In this review, we provide a comprehensive review of the existing literature about 22q11.2DS in order to summarize the knowledge gained in the past years of clinical experience and research, as well as to identify the remaining gaps in comprehension of this syndrome and the possible future research directions.

The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling. Hh signaling coordinates multiple aspects of left-right lateralization and cardiovascular growth. Being active at the venous pole the secondary heart field (SHF) is essential for normal development of dorsal mesenchymal protrusion and AVCD formation and septation. Experimental data show that perturbations of different components of the Hh pathway can lead to developmental errors presenting with partially overlapping manifestations and AVCD as a common denominator. We review the potential role of Hh signaling in the pathogenesis of AVCD in different genetic disorders. AVCD can be viewed as part of a "developmental field," according to the concept that malformations can be due to defects in signal transduction cascades or pathways, as morphogenetic units which may be altered by Mendelian mutations, aneuploidies, and environmental causes.

Atrioventricular Septal Defects (AVSD) account for 7.4% of Congenital Heart Defects (CHD). They may occur in isolation, with a narrow spectrum of age at presentation and prognosis, or in association with other intracardiac malformations: here symptoms and needs for treatment vary considerably. Moreover, their frequent association with abnormal genetic disorders, such as Trisomy 21 or Heterotaxy, further complicates the task of surgical treatment. Analysing the data is seemingly complex: some associations are exceedingly rare, while in other more common morphologies, the approach is variable and controversial. Although results have greatly improved in the last decades, early and late survival remains suboptimal, sometimes poor. Early mortality greatly varies, along with complexity of pathophysiology and repair, from 5% to over 30%. The dilemma between high operative risk and palliation of the univentricular type is at times daunting. The possibility of surgical cure is discussed according to surgical options but the frequent need for reintervention makes hope elusive. Late survival greatly differs, from 45% to 80% at 5-year follow-up. It is hardly surprising, in the western type of society, that prenatal diagnosis should result in a high rate of termination of pregnancy. This holds particularly true when a chromosomal abnormality is also identified.

Several studies regarding superficial treatments of Nitinol (NiTi) shape-memory have been developed aiming to the improve corrosion resistance and to block the Ni release to adjacent tissues. The necessary heat treatment to achieve the shape memory effect normally occurs at temperatures between 500 and 600 °C. However, titanium oxide (TiO2) is formed on the NiTi surface during the shape memory process heat treatment. In this work the effects of the heat treatment time on the surface characteristics of the formed NiTi oxide, at temperatures that promote the shape-memory (530 and 570 °C), were evaluated. The TiO2 layers which were obtained were evaluated by X-ray diffraction (XRD), energy dispersive X-ray (EDX), scanning electron microscope (SEM), thermogravimetric analysis (TGA), wettability and roughness. The results show that by increasing the exposure time at the temperature of 570 °C the formation of a thicker oxide is promoted, with less superficial roughness and of a hydrophobic nature. According to the literature, these characteristics indicate that the obtained oxide layer has properties that accelerat the osseointegration process.

Tantalum has been cited to have many biomaterial applications, exhibiting biocompatibility and outstanding corrosion resistance. Tantalum may be covered with tantalum oxide using the electrochemical process of anodic oxidation. The oxide surface is known to be bioactive and more corrosion resistant. In this research, compact tantalum oxide films were obtained by potentiostatic and potentiodynamic methods in H2SO4 and H3PO4 (1 mol.L-1) electrolytes. By XPS analysis the stoichiometry Ta2O5 was detected. The thermodynamic stability of those oxides was compared and the results indicated that Ta2O5 obtained in H2SO4 has higher thermodynamic stability than Ta2O5 obtained in H3PO4. The incorporation of (PO4)3- ions and the formation of a bilayer oxide are responsible for the reduced stability. Also, the better control of chemical kinetic of oxide formation allows potentiodynamic oxides to be more stable. Ta2O5 shows spontaneous dissolution in artificial blood, nevertheless, it remains stable even after 60 days of immersion. By scratching tests was possible to notice that Ta2O5 is highly adherent to the tantalum metallic substrate and by mechanical indentation was possible to measure a lower elastic modulus for the Ta2O5 than the metallic substrate, what can be considered as distinguished properties for biomedical applications.

To improve the implants biocompatibility many surface modifications were proposed. Investigations about the surface modification on Ti alloys by anodic oxidation are reported. This research presents a study on the stability of thin titanium dioxide grown by potentiodynamic method on Ti6Al4V surfaces up to 5.0 V. Its bioactive surface in phosphate buffer solution (PBS) and the oxide stability after immersion in artificial blood media were measured by Electrochemical Impedance Spectroscopy (EIS). Hydroxyapatite (HAP) presence was evaluated using simulated body fluid (SBF) with different immersion times. The oxides and HAP presence were analyzed by Scanning Electron Microscopy (SEM) and X-ray Photoelectron Spectroscopy (XPS). The oxide stability was confirmed with low dissolution rates where the Rp was around 106Ω.cm2. The results showed the TiO2 was compact and thin oxide that could prevent the severe corrosion processes and improve in few days the physical-chemical interaction of the Ti alloys with bone in physiological media.

In order to improve the NiTi alloy biocompatibility, surface treatments become very important. Nevertheless, researchers use different solutions to simulate the body fluids in electrochemical assays, and the correlation between the obtained results is difficult and might not even be possible. The present paper evaluated the electrochemical behavior of polished NiTi surfaces exposed to different simulated body fluid solutions: Hanks solution, Hanks’ balanced salt (HBSS) solution, saline body fluid (SBF) solution, and Ringer solution. The electrochemical behavior of NiTi was evaluated by open circuit potential (OCP) and cyclic voltammetry tests. The surfaces of the samples were also characterized by scanning electron microscopy, which was performed after the electrochemical tests. The results demonstrated that the NiTi alloy shows the same corrosion mechanism (pitting) in all simulated body fluids that were studied. However, the corrosion potential changes for each electrolyte, being HBSS, SBF and Ringer the most corrosive solutions. Furthermore, the Hanks and HBSS solutions demonstrated good reproducibility of the electochemical results. Considering that the HBSS represents an extreme environment, this solution seems to be the most indicated to study the corrosion behavior of NiTi treated surfaces.

Acute kidney injury (AKI) is a common complication following cardiac surgery performed on cardiopulmonary bypass (CPB) and has important implications for prognosis. The aetiology of cardiac surgery-associated AKI is complex, but renal hypoxia, particularly in the medulla, is thought to play at least some role. There is strong evidence from studies in experimental animals, clinical observations and computational models that medullary ischaemia and hypoxia occur during CPB. There are no validated methods to monitor or improve renal oxygenation during CPB, and thus possibly decrease the risk of AKI. Attempts to reduce the incidence of AKI by early transfusion to ameliorate intra-operative anaemia, refinement of protocols for cooling and rewarming on bypass, optimization of pump flow and arterial pressure, or the use of pulsatile flow, have not been successful to date. This may in part reflect the complexity of renal oxygenation, which may limit the effectiveness of individual interventions. We propose a multi-disciplinary pathway for translation comprising three components. Firstly, large-animal models of CPB to continuously monitor both whole kidney and regional kidney perfusion and oxygenation. Secondly, computational models to obtain information that can be used to interpret the data and develop rational interventions. Thirdly, clinically feasible non-invasive methods to continuously monitor renal oxygenation in the operating theatre and to identify patients at risk of AKI. In this review, we outline the recent progress on each of these fronts.

Made available in DSpace on 2018-12-11T17:13:54Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-07-01 The Ti-Nb alloy binary system has been widely studied with regard to biomedical applications due to the high biocompatibility and excellent mechanical properties of the alloys. Regarding physicalchemical stability, Ti-Nb alloys maintain the properties of Ti metal, which is highly resistant to corrosion in aggressive media due to a spontaneous stable oxide layer (TiO2) formed on its surface. The objective of this study was to evaluate the corrosion resistance of the Ti-40Nb alloy in artificial blood. The thermodynamic stability was studied using the open circuit potential technique and the corrosion resistance was assessed by potentiodynamic measurements and electrochemical impedance spectroscopy. The electrochemical results indicated that the Ti-40Nb alloy has high corrosion resistance and good thermodynamic stability, with an OCP of around -485 mV, and the alloy remained electrochemically stable in potentiodynamic conditions with initial and final potentials of -1.0 V to +2.0 Vsce, respectively, in low current densities (∼μA cm-2) with an absence of hysteresis, aspure Ti. The results obtained showed that this specific alloy has the potential to be used in biomedical applications. Laboratory of Biomaterials and Electrochemistry Federal University of Paraná UFPR Physics Department Laboratory of Surface Mechanical Properties Federal University of Paraná UFPR UNESP School of Engineering Materials and Technology Department Guaratinguetá Campus Department of Mechanical Engineering Laboratory of Biomaterials and Electrochemistry Federal University of Paraná UFPR UNESP School of Engineering Materials and Technology Department Guaratinguetá Campus

The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation.

This article analyses the differences in voting behaviour of the selectorate and electorate of the Italian Partito Democratico (PD) in 2013, particularly focussing on the role played by leadership, ideology, and media in affecting voting decisions. We study the different motivations underlying the decision to vote for the PD in the 2013 Italian general election or for each one of the three candidates to party leadership in the 2013 PD leadership selection race. The empirical analysis uses 2013 Italian National Election Study and 2013 Candidate & Leader Selection data. Results of the analysis show that leadership evaluation has a stronger influence on the selectorate than on the electorate and that the perceived distance between voters and the party on the left-right continuum has a stronger impact on the electorate than on the selectorate. Moreover, the analysis underlines that media are substantially not a relevant factor explaining voting behaviour of PD’s electorate and selectorate. These findings confirm the relevancy of leadership evaluation in intra-party competitions and open a new perspective to study leader selection races.

Why are certain Members of Parliament (MPs) more likely to get re-candidacy for national legislative elections, therefore having the possibility to continue their career? This article answers this question by comparing political elites' long-debated explanations with more legislative behaviour-related factors. By focusing on more than 25 years of the Italian Lower House's history, we have built a novel dataset on the legislative behaviour and career patterns of more than 3500 Italian MPs. A multilevel logistic regression analysis shows that, with the exception of party switching, legislative behaviour does not seem to exert a significant impact on MPs' re-candidacy. On the contrary, the career status of parliamentarians, i.e., their parliamentary position or their ministerial historical record, strongly influences their chances of obtaining re-candidacy.

Introduction: Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs. In this sense, the well-known association of typical CHDs in Down syndrome, 22q11.2 microdeletion and Noonan syndrome represent paradigms as chromosomal aneuploidy, chromosomal microdeletion and intragenic mutation, respectively. Area covered: For each syndrome the anatomical features, distinctive cardiac phenotype and molecular mechanisms are discussed. Moreover, the authors include recent genetic findings that may shed light on some aspects of still unclear molecular mechanisms of these syndromes. Expert commentary: Further investigations are needed to enhance the translational approach in the field of genetics of CHDs. When there is a well-established definition of genotype-phenotype (reverse medicine) and genotype-prognosis (predictive and personalized medicine) correlations, hopefully preventive medicine will make its way in this field. Subsequently a reduction will be achieved in the morbidity and mortality of children with CHDs.

Background RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. Methods A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis. Results Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20 years, respectively. Restricted estimated mean survival at 20 years follow-up was 19.6 years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age < 2 years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death. Conclusions The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death.

Samples of reinforced mortar specimens (Sps) were studied over 300 days of exposure in reference, sulfate, and chloride environments. Electrochemical impedance spectroscopy (EIS) was used to investigate external sulfate attack (ESA) in comparison with known chloride models. The study, based on the mortar behavior and its measured electrical properties, highlighted the mechanisms that occur under the pores during the aging. The sulfate samples presented a capacitive behavior at lower frequencies, and the mortar resistance shifted. It was confirmed that EIS is a qualified technique to identify the sulfate attack in concrete by non-destructive methods.

The use of titania (TiO2) nanotubes is becoming one of the most attractive techniques as surface treatment for implants due its combination of morphology (that accelerates osteoblast adhesion and proliferation), bioactivity and possibility of being use as a drug vehicle. Anodic oxidation is one of the cheapest and simplest approaches to obtain highly ordered nanotubes. Parameters such as applied potential, reaction time and fluoride containing in the electrolyte define the nanotubes morphology. However, the mechanical properties of the nanotubes layer do not have been completely elucidated and they play a crucial role in the implant long term stability. The objective of this research was to obtain TiO2nanotubes using anodic oxidation and to determine their elastic modulus and hardness. The TiO2nanotubes layer was obtained in a fluoride containing electrolyte for 1 hour, one group at 15 V and another one at 25 V. The TiO2nanotubes morphology was characterized by scanning electron microscopy (SEM) and atomic force microscopy (AFM). The elastic modulus and hardness were evaluated by nanoindentation experiments using a spherical tip. SEM images showed highly ordered nanotubes on all titanium surfaces and it was observed that the nanotubes diameters are directly related with the applied potential. Nanotubes diameters are 66 ± 9 nm and 131 ± 22 nm for nanotubes obtained at 15 V and 25 V, respectively. Nanoindentation test results showed a decrease in the elastic modulus comparing with titanium reference and these values approach to cortical bone elastic modulus. These results demonstrate that it was possible to obtain a homogeneous TiO2nanotubes layer that has mechanical properties adequate to improve implant long-term stability.

Titanium and its alloys are biomaterials used in endosseous implants, due to desirable mechanical properties, high corrosion resistance and biocompatibility. Using electrochemical anodization technique these materials can be recovered with self-organized TiO2 nanotubes layer resulting in increased specific surface area and probable bioactivity improvement. This research aimed determine potentiostatic anodization parameters to obtain self-organized TiO2nanotubes layer with reproducibility and ideal diameters for probable bioactive response on Ti - 2 grade (ASTM F67) and Ti6Al4V (ASTM F136) orthopedic alloy and evaluation the electrochemical stability behavior in simulated body fluid media. The self-organized nanotubes layer were obtained by potentiostatic electrochemical method in electrolyte containing fluoride ions, H3PO4/HF for Ti 2 grade and H3PO4/NH4F for Ti6Al4V alloy, the applied potentials were 15 V, 20 V and 25 V for 30, 60 and 90 minutes, for both materials. For morphologic characterization were employed scanning electron microscopy SEM and the Image J software for nanodiameter measurements. The nanoestructure electrochemical stability was evaluated by open circuit potential after immersion for 15, 30 and 60 days in artificial blood plasma, into an electrochemical cell, using SCE (saturated calomel electrode) as reference electrode, in PBS ((phosphate buffered saline) solution electrolyte for 90 minutes. The ideal anodization parameters were 15 V and 20 V for 1 hour and a reproducible, uniform and homogeneous self-organized nanotubes layer were obtained with ideal diameters that probably improve the implant superficial bioactivity with 80 and 120 nm respectively, according to the literature. Open-circuit potentials from metal/oxide system obtained on both materials are stable with potentials in range of -0.031 V to -0,183 V indicating good stability of nanoestructures in simulated body fluid. Nanotubes layer as a superficial treatment is viable with high reproducibility, low cost and electrochemical stability in simulated body fluid media.

There are various surface treatments used to modify titanium surfaces to render it bioactive. In this study commercially pure titanium surfaces (cp Ti), grade 2 were modified by acid etching (AE) and anodic oxidation (OA) in order to evaluate the bioactivity in vitro of these surfaces using the simulated body fluid (SBF). The AE was realized using a mixture of acids and AO using 1 mol.L-1 sulfuric acid. The anodic films were obtained under potentiostatic mode, during 60s using as anode a bar of titanium. All the surfaces that means cp Ti, AE and AO were analyzed concerning to morphology, rugosity, structural changes before in vitro bioactivity tests. It was observed by scanning electron microscopy (SEM) that all surfaces presented different morphologies: those with AE showed a surface with peaks and rounded valleys, with Ra = (564±80) nm, the oxidized surfaces with sulfuric acid showed a morphology with small pores uniformly distributed over the surface and Ra = (177±0,02) nm. X-rays diffraction results showed the presence of titanium hydride on the samples with AE and the anatase and rutile phases on the anodic films after heat treatment at 600°C/1h. Bioactivity tests in vitro using SBF at 37°C showed that small aggregates containing Ca and P were observed on surfaces with AE after 30 days soaked in SBF and the surfaces oxidized were fully coated with an apatite layer, identified by SEM.

Cerebral protection is a key priority during cardiac arrest (CA). However, current approaches are suboptimal.To test whether direct perfusion and cooling of the anterior cerebral circulation by means of cerebral vessel cannulation and extracorporeal membrane oxygenation (ECMO) increases cerebral oxygenation and induces cerebral hypothermia during CA.We performed proof-of-concept animal experiments in sheep. We cannulated the carotid artery (for antegrade perfusion) or the jugular vein (for retrograde perfusion) for direct perfusion and cooling, and the jugular vein on the opposite side for drainage. We connected these cannulae to an ECMO circuit. We induced CA and, after 10 minutes, and during open-chest cardiac massage, we provided ECMO-based perfusion and cooling. We measured cerebral tissue oxygen saturation (SctOIn the antegrade perfusion experiments (n = 2), CA markedly decreased the SctODuring experimental CA, cerebral perfusion and cooling are possible by means of an ECMO circuit connected to the anterior cerebral circulation. Antegrade perfusion appears to be superior. Further investigations of the antegrade perfusion technique appear justified.

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (p = 0.038) or pulmonary valve stenosis (98/459, 21.4%) (p = 0.002). Similarly, patients with non-truncating NF1 mutations displayed two- and six-fold higher risk of developing CHD (odds ratio = 1.9713, 95% confidence interval (CI): 1.1162&ndash, 3.4814, p = 0.0193) and pulmonary valve stenosis (odds ratio = 6.8411, 95% CI: 2.6574&ndash, 17.6114, p = 0.0001), respectively. Noteworthy, all but one patient (19/20, 95.0%) with pulmonary valve stenosis, and 18/35 (51.4%) patients with other CHDs displayed Noonan syndrome (NS)-like features. Present data confirm the significant frequency of CHD in patients with NF1, and provide further evidence for a higher than expected prevalence of NF1 in-frame variants and NS-like characteristics in NF1 patients with CHD, particularly with pulmonary valve stenosis.