Computational Identification of Phospho-Tyrosine Sub-Networks Related to Acanthocyte Generation in Neuroacanthocytosis

Acanthocytes, abnormal thorny red blood cells (RBC), are one of the biological hallmarks of neuroacanthocytosis syndromes (NA), a group of rare hereditary neurodegenerative disorders. Since RBCs are easily accessible, the study of acanthocytes in NA may provide insights into potential mechanisms of neurodegeneration. Previous studies have shown that changes in RBC membrane protein phosphorylation state affect RBC membrane mechanical stability and morphology. Here, we coupled tyrosine-phosphoproteomic analysis to topological network analysis. We aimed to predict signaling sub-networks possibly involved in the generation of acanthocytes in patients affected by the two core NA disorders, namely McLeod syndrome (MLS, XK-related, Xk protein) and chorea-acanthocytosis (ChAc, VPS13A-related, chorein protein). The experimentally determined phosphoproteomic data-sets allowed us to relate the subsequent network analysis to the pathogenetic background. To reduce the network complexity, we combined several algorithms of topological network analysis including cluster determination by shortest path analysis, protein categorization based on centrality indexes, along with annotation-based node filtering. We first identified XK- and VPS13A-related protein-protein interaction networks by identifying all the interactomic shortest paths linking Xk and chorein to the corresponding set of proteins whose tyrosine phosphorylation was altered in patients. These networks include the most likely paths of functional influence of Xk and chorein on phosphorylated proteins. We further refined the analysis by extracting restricted sets of highly interacting signaling proteins representing a common molecular background bridging the generation of acanthocytes in MLS and ChAc. The final analysis pointed to a novel, very restricted, signaling module of 14 highly interconnected kinases, whose alteration is possibly involved in generation of acanthocytes in MLS and ChAc

Fibers for hearts: A critical review on electrospinning for cardiac tissue engineering

Cardiac cell therapy holds a real promise for improving heart function and especially of the chronically failing myocardium. Embedding cells into 3D biodegradable scaffolds may better preserve cell survival and enhance cell engraftment after transplantation, consequently improving cardiac cell therapy compared with direct intramyocardial injection of isolated cells. The primary objective of a scaffold used in tissue engineering is the recreation of the natural 3D environment most suitable for an adequate tissue growth. An important aspect of this commitment is to mimic the fibrillar structure of the extracellular matrix, which provides essential guidance for cell organization, survival, and function. Recent advances in nanotechnology have significantly improved our capacities to mimic the extracellular matrix. Among them, electrospinning is well known for being easy to process and cost effective. Consequently, it is becoming increasingly popular for biomedical applications and it is most definitely the cutting edge technique to make scaffolds that mimic the extracellular matrix for industrial applications. Here, the desirable physico-chemical properties of the electrospun scaffolds for cardiac therapy are described, and polymers are categorized to natural and synthetic.Moreover, the methods used for improving functionalities by providing cells with the necessary chemical cues and a more in vivo- like environment are reported

Gender, body and politics: FEMEN and the action of Greek women's collectives and organizations

In the framework of this dissertation, main axes are developed around gender, collective action and the position of the body in protest and politics from below. The central axis of this dissertation is the position of the naked female body in the public space and the Discourses and its use as a tool in feminist action and the modern remakes of feminism. The first part of the research presents the bibliographic overview of the FEMEN organization and its main stakes as well as the role of (their) body in public space, their attitude towards religion, prostitution, politics, sectarianism and the way they choose to perform their gender in two places, in the public space and in the space of the media. The second part reflects the views of Greek feminist organizations, actions and collectives on the participation of Greek women in feminist action, the contribution of social media to political participation, the prospects of adopting the body as a political tool, perceptions of FEMEN and possibilities of adoption of corresponding actions in Greece. The special anchorages that restrict the female body in public emerge and the reasons that make the presence of FEMEN in Greek society impossible are presented, since the naked female body functions as a taboo, raising prohibitions, challenges and questions.Στο πλαίσιο αυτής της διατριβής αναπτύσσονται βασικοί άξονες γύρω από το κοινωνικό φύλο, τη συλλογική δράση και τη θέση του σώματος στην διαμαρτυρία και την πολιτική από τα κάτω. Κεντρικός άξονας αυτής της διατριβής είναι η θέση του γυμνού γυναικείου σώματος στον δημόσιο χώρο και Λόγο και η χρήση του ως εργαλείο στην φεμινιστική δράση και τα σύγχρονα διακευβεύματα του φεμινισμού. Στο πρώτο μέρος της έρευνας παρουσιάζεται η βιβλιογραφική επισκόπηση της οργάνωσης FEMEN και των βασικών διακυβευμάτων της, όπως και ο ρόλος του σώματος (τους) στον δημόσιο χώρο, η στάση τους απέναντι στην θρησκεία, στην πορνεία, στην πολιτική, στον σεξτρεμισμό και στον τρόπο που επιλέγουν να επιτελέσουν το φύλο τους σε δύο χώρους, στον δημόσιο χώρο και στον χώρο των ΜΜΕ. Στο δεύτερο μέρος αποτυπώνονται οι απόψεις ελληνικών φεμινιστικών οργανώσεων, δράσεων και συλλογικοτήτων γύρω από την συμμετοχή των Ελληνίδων στην φεμινιστική δράση, τη συμβολή των social media στην πολιτική συμμετοχή, τις προοπτικές της υιοθέτησης του σώματος ως πολιτικό εργαλείο, τις αντιλήψεις για τις FEMEN και τις πιθανότητες υιοθέτησης αντίστοιχων δράσεων στον ελληνικό χώρο. Ειδικότερα αναδύονται οι αγκυλώσεις που περιορίζουν το γυναικείο σώμα στον δημόσιο χώρο και παρουσιάζονται οι λόγοι εκείνοι που καθιστούν την παρουσία των FEMEN στην ελληνική κοινωνία αδύνατη, εφόσον το γυμνό γυναικείο σώμα εξακολουθεί να λειτουργεί ως ταμπού, εγείροντας απαγορεύσεις, προκλήσεις και ερωτήματα

Integration and Field Evaluation of an IoV System for Enhancing Road Safety

Road safety is a major global concern, as millions of lives are lost every year because of road accidents. Towards an effort to increase road safety, several Internet-of-Vehicle systems have been developed over the last years in order to better monitor vehicle and driver behavior and issue warnings that effectively prevent life-threatening accidents. These systems face a number of challenges including connectivity issues and high installation and/or maintenance costs. The current work introduces the ODOS2020 system, an integrated Internet-of-Vehicles system aiming to increase road safety. The system comprises several On-the-Road Units for vehicle-related data collection from affordable, energy-efficient magnetometers and calculation of critical parameters, such as each passing vehicle’s speed and direction. A Road-Side Unit accumulates data from the On-the-Road Units, sends data to a cloud infrastructure for further analysis and sends dedicated warnings to the drivers based on their road behavior and/or specific traffic conditions via a dedicated Human–Machine Interface. The overall system architecture and the key features of its modules are being presented, as well as the evaluation results of specially designed tests performed in an actual motorway under real use case scenarios. The evaluation results showed both a very good technical performance of the system and a high level of user acceptance. This in turn means that the system can be employed for effective traffic control and road accident avoidance via monitoring of critical vehicle parameters and early warning of the drivers based on their and other drivers’ behavior, road conditions and real-time, unpredictable events

Endoscopic injection of bulking agents in pediatric vesicoureteral reflux: a narrative review of the literature

: In the last 20 years, endoscopic injection (EI) has affirmed as a valid alternative to open surgery for management of pediatric vesicoureteral reflux (VUR). This study aimed to investigate and discuss some debated aspects such as indications, bulking agents and comparison, techniques of injection and comparison, predictive factors of success, use in specific situations. EI is minimally invasive, well accepted by patients and families, with short learning curve and low-morbidity profile. It provides reflux resolution rates approaching those of open reimplantation, ranging from 69 to 100%. Obviously, the success rate may be influenced by several factors. Recently, it is adopted as first-line therapy also in high grade reflux or complex anatomy such as duplex, bladder diverticula, ectopic ureters. The two most used materials for injection are Deflux and Vantris. The first is absorbable, easier to inject, has lower risk of obstruction, but can lose efficacy over time. The second is non-absorbable, more difficult to inject, has higher risk of obstruction, but it is potentially more durable. The two main techniques are STING and HIT. To date, the ideal material and technique of injection has not yet clearly established, but the choice remains dependent on surgeon's preference and experience

Clear cell “sugar tumor” of the lung: Diagnostic features of a rare pulmonary tumor

Clear cell tumor of the lung (CCTL) is an extremely rare neoplasm with about 50 cases reported in the literature so far. CCTL belongs to a family arising from putative perivascular epithelioid cells and is otherwise named as “sugar tumor” due to its high cellular glycogen concentration. Due to its rarity, diagnostic features of this entity are not widely known and this usually leads to misdiagnosis. Herein, we report a case of benign CCTL, which was primarily evaluated intraoperatively by FNA cytology and then by a pathological examination of the resected tumor. The cytologic preparations were moderately cellular and showed multiple large, irregular, cohesive clusters of ovoid or spindle tumor cells. Cells had clear cytoplasm, showing positivity with the periodic acid-Schiff (PAS) staining method owing to the glycogen (sugar) content. The rapid cytologic report excluded the possibility of malignancy and a middle lobectomy along with an anterior upper segmentectomy was performed. Immunochemistry revealed a diffuse positivity for HMB45, MART-1, SMA and focally for desmin, while specimen was negative for pancytokeratin cocktail AE1/AE3, cytokeratin7, cytokeratin20 and EMA. These findings confirmed the diagnosis of a benign CCTL. Due to its rarity and similarity with other clear cell tumors of the lung, awareness of this entity, recognition of the cytomorphologic features and familiarity with the associated clinical features can help clinicians avoid certain pitfalls in the diagnostic process. Considering its benign course, unnecessary extensive lung resections may also be avoided thus permitting conservative management of these patients. Keywords: Sugar tumor, Benign clear cell tumor, Case-report, PECom

How the first year of COVID-19 affected elective pediatric urology patients : a longitudinal study based on waiting lists and surveys from 10 european centers

International audienceIntroduction COVID-19 impacted healthcare systems worldwide, and elective surgical activity was brought to a minimum. Although children were not primarily affected by the disease, pediatric urology was halted by clinical closedown and staff allocation. We aimed to document how these prioritizations affected waiting lists, and to investigate how European centers dealt with the challenge of these logistical and financial prioritizations.Materials and Methods This was a 1-year prospective study, starting March 2020. Participants were surveyed at 3-month intervals about waiting lists for several common procedures as well as OR capacity and funding. Further, centers retrospectively reported on surgical and outpatient activity rates during 2019–2021. Waiting list tendencies were evaluated in relation to study baseline.Results A marked decrease in surgical and outpatient activity was seen in the spring of 2020. Some included pediatric urology centers were able to increase their budget (15%) and staff working hours (20%) during part of the study period. Still, at the end of the study, the centers had increased the total number of patients on waiting lists with 11%, whereas the average days on waiting lists had accumulated with 73%, yielding a total of 6,102 accumulated waiting days in the study population. Centers with decreased resources had markedly negative effects on waiting lists.Conclusions Correlations between COVID-19 derived burdening of healthcare systems and the availability of pediatric urology greatly depends on the prioritizations made at individual centers. Ongoing monitoring of these correlations is warranted to safely avoid unnecessary negative impact on the pediatric population

Addressing the diagnostic gaps in pyruvate kinase deficiency : Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD

Diagnosis and management of pyruvate kinase deficiency: international expert guidelines

Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with wide ranging and serious consequences affecting health, quality of life, and mortality. The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency. These clinical guidelines were developed by use of GRADE methodology and the AGREE II framework. Experts were invited after consideration of area of expertise, scholarly contributions in PK deficiency, and country of practice for global representation. The expert panel included 29 expert physicians (including adult and paediatric haematologists and other subspecialists), geneticists, laboratory specialists, nurses, a guidelines methodologist, patients with PK deficiency, and caregivers from ten countries. Five key topic areas were identified, the panel prioritised key questions, and a systematic literature search was done to generate evidence summaries that were used in the development of draft recommendations. The expert panel then met in person to finalise and vote on recommendations according to a structured consensus procedure. Agreement of greater than or equal to 67% among the expert panel was required for inclusion of a recommendation in the final guideline. The expert panel agreed on 31 total recommendations across five key topics: diagnosis and genetics, monitoring and management of chronic complications, standard management of anaemia, targeted and advanced therapies, and special populations. These new guidelines should facilitate best practices and evidence-based PK deficiency care into clinical practice