Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

2021

AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…

FANCD2 modulates the mitochondrial stress response to prevent common fragile site instability

2021

Common fragile sites (CFSs) are genomic regions frequently involved in cancer-associated rearrangements. Most CFSs lie within large genes, and their instability involves transcription- and replication-dependent mechanisms. Here, we uncover a role for the mitochondrial stress response pathway in the regulation of CFS stability in human cells. We show that FANCD2, a master regulator of CFS stability, dampens the activation of the mitochondrial stress response and prevents mitochondrial dysfunction. Genetic or pharmacological activation of mitochondrial stress signaling induces CFS gene expression and concomitant relocalization to CFSs of FANCD2. FANCD2 attenuates CFS gene transcription and pr…

Fictitious Meals, Culinary Constraints: The Recipe Form in Four Oulipian Texts

2021

AbstractThis article looks into fictitious meals and the use of culinary recipe form in experimental and procedural literature, namely, works of constrained writing associated with OuLiPo (Ouvroir de Littérature Potentielle). The recipe form is first scrutinized from the procedural, structural, and historical viewpoints, also concerning its lesser-known imaginative and esoteric genealogy. In addition, its connections to the notions of narrativity and fiction are discussed. The recipe's relationship to action is depicted by a simple procedural model. There is a metaphorical and conceptual, but also formal and operational, similarity between the coded procedures of cooking and writing. A reci…

Nest guarding behaviour of a temperate wrasse differs between sites off Mediterranean CO2 seeps

2021

Abstract Organisms may respond to changing environmental conditions by adjusting their behaviour (i.e., behavioural plasticity). Ocean acidification (OA), resulting from anthropogenic emissions of carbon dioxide (CO2), is predicted to impair sensory function and behaviour of fish. However, reproductive behaviours, and parental care in particular, and their role in mediating responses to OA are presently overlooked. Here, we assessed whether the nesting male ocellated wrasse Symphodus ocellatus from sites with different CO2 concentrations showed different behaviours during their breeding season. We also investigated potential re-allocation of the time-budget towards different behavioural act…

Immunogenicity of the BNT162b2 mRNA COVID-19 vaccine in older residents of a long-term care facility: relation with age, frailty and prior infection …

2021

Clinical and biological assessment of the COVID-19 vaccine efficacy in the frail population is of crucial importance. The study focuses on measuring the levels of anti-SARS-CoV-2 IgG antibodies before and after BNT162b2 mRNA COVID-19 vaccination among long-term care facility (LTCF) elderly residents. We conducted a prospective, single-center, observational study among LTCF residents. The study protocol was based on three blood sample acquisitions: first taken at baseline—5 days before the first dose of the vaccine, second—20 days after the first dose, and third—12 days after the second shot of the vaccine. The comparison was made for two cohorts: patients with and without prior COVID-19 inf…

Effectiveness of Pre-Hospital Tourniquet in Emergency Patients with Major Trauma and Uncontrolled Haemorrhage: A Systematic Review and Meta-Analysis

2021

Trauma is one of the leading causes of uncontrolled haemorrhage, death, and disability. Use of a tourniquet can be considered an optimal anti-haemorrhagic resource, in pre-hospital and emergency settings, and its lifesaving effect is clinically contradictory. This review aims to assess the clinical efficacy of the tourniquet in the emergency pre-hospital care setting for the management of haemorrhage. We conducted the systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses, the PRISMA statement. We searched the following electronic databases: EMBASE, MEDLINE, and Cochrane-CENTRAL. All studies included were appraised for risk of bias. Prevalent prim…

Emotional Intelligence Measures: A Systematic Review

2021

Emotional intelligence (EI) refers to the ability to perceive, express, understand, and manage emotions. Current research indicates that it may protect against the emotional burden experienced in certain professions. This article aims to provide an updated systematic review of existing instruments to assess EI in professionals, focusing on the description of their characteristics as well as their psychometric properties (reliability and validity). A literature search was conducted in Web of Science (WoS). A total of 2761 items met the eligibility criteria, from which a total of 40 different instruments were extracted and analysed. Most were based on three main models (i.e., skill-based, tra…

Economic conditions and populist radical right voting: The role of issue salience

2021

Contains fulltext : 245174.pdf (Publisher’s version ) (Open Access) In this article, we show with the European Election Study from nine Western European countries that issue salience of the economy and immigration contributes to our understanding of the puzzling relation between economic conditions and populist radical right support. In countries with relatively weak or worsening economic conditions, the economy is considered more salient, whereas immigration loses salience – also compared to other issues. Voters who perceive the economy as most important problem are less likely to opt for the populist radical right than people who perceive immigration or even other issues as most important…

Giuseppe Cocchiara, il fascismo e il razzismo

2021

In questo saggio viene ricostruito il rapporto tra Giuseppe Cocchiara e il fascismo. L’antropologo visse in pieno la sua formazione culturale all'interno del regime al quale aderì con convinzione e slancio, militando sempre nelle sue fazioni più radicali, condividendone fedelmente le scelte più tragiche come la guerra d’Etiopia, sottoscrivendo le leggi razziali, impegnandosi nella seconda guerra mondiale con le armi culturali dell’antisemitismo e della lotta senza tregua contro la democrazia. Così quando, come in un «mondo alla rovescia», sconfitto il fascismo sotto il peso di un’umiliante e sanguinosa disfatta, saranno proprio gli odiati inglesi a valorizzarne la statura intellettuale e la…

Medial tunica degeneration of the ascending aortic wall is associated with specific microRNA changes in bicuspid aortic valve disease

2021

Ascending aortic diameter is not an accurate parameter for surgical indication in patients with bicuspid aortic valve (BAV). Thus, the present study aimed to identify specific microRNAs (miRNAs/miRs) and their expression levels in aortic wall aneurysm associated with BAV according to severity of medial degeneration and to elucidate the association between the tissue expression levels of the miRNAs with their expression in plasma. Aortic wall and blood specimens were obtained from 38 patients: 12 controls and 26 patients with BAV with ascending aortic aneurysm. Of the patients with BAV, 19 had cusp fusions of right and left, 5 of right and non-coronary, and 2 of left and non-coronary. Two gr…

I Cannot Place You: Dementia and the Pandemic Experience in The Visiting Hour by Frank McGuinness

2021

This paper presents a new play by Frank McGuinness, a play which was streamed to audiences in April 2021 and published a few weeks later. Set in contemporary Ireland, it focuses on two themes which seem to preoccupy its author: dementia, to which he devoted another play, Hanging Gardens and the consequences of living in a time of Pandemic. In particular, I argue, McGuinness indirectly seems to address an important question: how can literature and theatre offer an opportunity for reflecting about what is happening around us? Can literature help us to better understand and face the world? The play foregrounds the restorative power of emotional authenticity as we see a father and his daughter …

Improving Brain Creatine Uptake by Klotho Protein Stimulation: Can Diet Hit the Big Time?

2021

Creatine plays a pivotal role in cellular bioenergetics, acting as a temporal and spatial energy buffer in cells with high and fluctuating energy requirements (1). Jeopardizing delicate creatine homeostasis can be detrimental to many energy-demanding tissues, including the brain. For instance, cerebral creatine hypometabolism accompanies various neurological conditions, including a number of developmental disorders (2, 3), neurodegenerative and cerebrovascular diseases (4, 5), and brain cancer (6). A reduced creatine availability in the brain has been thus recognized as an apposite therapeutic target, and supplying exogenous creatine to compensate for a disease-driven shortfall emerged as a…

Libertà d’interpretazione e rigore metodologico

2021

The Use of Mobile Payment Systems in Post-COVID-19 Economic Recovery : Primary Research on an Emerging Market for Experience Goods

2021

This study investigated whether mobile payment services could drive post-COVID-19 pandemic recovery in the ‘experience goods’ sector (e.g., tourism) utilising Bandura’s self-efficacy or social cognitive theory. It explored the factors influencing the intention to continue using mobile payment services and the intention to recommend these to others. An empirical survey was conducted to assess the study variables, and the data obtained therefrom were analysed using the industry-standard Cross-Industry Standard Process for Data Mining method. The study results suggest that personal innovativeness and perceived trust influence consumers’ intention to continue using mobil…

FACS-based protocol to assess cytotoxicity and clonogenic potential of colorectal cancer stem cells using a Wnt/β-catenin signaling pathway reporter

2021

Summary Cancer stem cells (CSCs) play a key role in tumor initiation and progression. A real-time tool to evaluate the activation of CSC-specific signaling pathways is crucial for the study of this cancer cell subset. Here, we present a protocol to monitor, in vitro, the activation of Wnt/β-catenin signaling pathway, which is considered a functional biomarker for colorectal CSCs (CR-CSCs). This flow-cytometry-based protocol allows it to isolate CR-CSCs and to evaluate their cytotoxicity upon anti-tumor treatments. For complete details on the use and execution of this protocol, please refer to Di Franco et al. (2021).

Evolution of Free Volumes in Polycrystalline BaGa2O4 Ceramics Doped with Eu3+ Ions

2021

H.K. and Y.K. would like to thank A. Ingram for assistance in PAL experiments. The authors thank E.A. Kotomin and M. Brik for the many useful discussions. The research was (partly) performed in the Institute of Solid State Physics, University of Latvia ISSP UL. ISSP UL as the Center of Excellence is supported through the Framework Program for European universities Union Horizon 2020, H2020-WIDESPREAD-01–2016–2017-TeamingPhase2 under Grant Agreement No. 739508, CAMART2 project.

Tracking the evolution of the accretion flow in MAXI J1820+070 during its hard state with the JED-SAD model

2021

X-ray binaries in outburst typically show two canonical X-ray spectral states, i.e. hard and soft states, in which the physical properties of the accretion flow and of the jet are known to change. Recently, the JED-SAD paradigm has been proposed for black hole X-ray binaries, aimed to address the accretion-ejection interplay in these systems. According to this model, the accretion flow is composed by an outer standard Shakura-Sunyaev disk (SAD) and an inner hot Jet Emitting Disk (JED). The JED produces both the hard X-ray emission, effectively playing the role of the hot corona, and the radio jets. In this paper, we use the JED-SAD model to describe the evolution of the accretion flow in th…

Understanding maritime transport route choice among Irish exporters: A latent class approach

2021

Abstract The reduction in the level of maritime connectivity between Ireland and mainland Europe has been the focus of concern for Irish exporters since the withdrawal of the United Kingdom from the European Union in January 2019. In a post-Brexit scenario, new proposals are being sought to address Ireland's reliance on the UK land-bridge. Policy developments aimed at circumventing the potential negative impact of UK customs checks for Irish exports include the proposals by the European Commission to introduce new direct shipping routes connecting main ports in Ireland with Zeebrugge and Antwerp in Belgium, as well as with Rotterdam in the Netherlands. From a transport policy perspective, f…

Surgical anatomy of the upper esophagus related to robot-assisted cervical esophagectomy

2021

Abstract Robot-assisted cervical esophagectomy (RACE) enables radical surgery for tumors of the middle and upper esophagus, avoiding a transthoracic approach. However, the cervical access, narrow working space, and complex topographic anatomy make this procedure particularly demanding. Our study offers a stepwise description of appropriate dissection planes and anatomical landmarks to facilitate RACE. Macroscopic dissections were performed on formaldehyde-fixed body donors (three females, three males), according to the surgical steps during RACE. The topographic anatomy and surgically relevant structures related to the cervical access route to the esophagus were described and illustrated, a…

Comparative Biological Properties and Mineralization Potential of 3 Endodontic Materials for Vital Pulp Therapy: Theracal PT, Theracal LC, and Bioden…

2021

INTRODUCTION The aim of this study was to assess the biological properties and mineralization potential of the new Theracal PT (Bisco Inc, Schaumburg, IL) compared with its predecessor Theracal LC (Bisco Inc) and the hydraulic silicate-based cement Biodentine (Septodont, Saint-Maur-des-Fosses, France) on human dental pulp stem cells (hDPSCs) in vitro. METHODS Standardized sample discs were obtained for each material (n = 30) together with 1:1, 1:2, and 1:4 material eluates. Previously characterized hDPSCs were cultured with the different materials in standardized conditions, and the following assays were performed: a 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay, a woun…

Surgical Neuropelveology: Lateral Femoral Cutaneous Nerve Endometriosis. Laparoscopic Resection and Nerve Transplantation

2021

ABSTRACT Study Objective To demonstrate the application of surgical neuroanatomic principles for the diagnosis and treatment of deep infiltrating endometriosis involving the lateral femoral cutaneous nerve. Design Video demonstration of laparoscopic lateral femoral cutaneous endometriosis resection with nerve transplant. Setting Endometriosis infiltrating somatic nerves is a poorly known condition, which can cause severe neuropathic symptoms [1] and is often unrecognized with a subsequent treatment delay [1] . Intimate knowledge of pelvic neuroanatomy and expertise in minimally invasive surgery are essential to manage this challenging surgical scenario 2 , 3 , 4 . Interventions Thirty-six y…

COVID-19 and non–COVID-19 pneumonia: a comparison

2021

Abstract Background The COVID-19 pandemic has caused the relocation of huge financial resources to departments dedicated to infected patients, at the expense of those suffering from other pathologies. Aim To compare clinical features and outcomes in COVID-19 pneumonia and non-COVID-19 pneumonia patients. Patients and methods 53 patients (35 males, mean age 61.5 years) with COVID-19 pneumonia and 50 patients (32 males, mean age 72.7 years) with non-COVID-19 pneumonia, consecutively admitted between March and May 2020 were included. Clinical, laboratory and radiological data at admission were analyzed. Duration of hospitalization and mortality rates were evaluated. Results Among the non-COVID…

Fed-batch simultaneous saccharification and fermentation including in-situ recovery for enhanced butanol production from rice straw

2021

Abstract This paper describes a study of fed-batch SSFR (simultaneous saccharification, fermentation and recovery) for butanol production from alkaline-pretreated rice straw (RS) in a 2-L stirred tank reactor. The initial solid (9.2% w/v) and enzyme (19.9 FPU g-dw-1) loadings were previously optimized by 50-mL batch SSF assays. Maximum butanol concentration of 24.80 g L-1 was obtained after three biomass feedings that doubled the RS load (18.4% w/v). Butanol productivity (0.344 g L-1h−1) also increased two-fold in comparison with batch SSF without recovery (0.170 g L-1h−1). Although fed-batch SSFR was able to operate with a single initial enzyme dosage, an extra dosage of nutrients was requ…

LA VIOLENCIA CONTRA LAS MUJERES COMO PRUEBA DE MASCULINIDAD. REFLEXIONES SOCIO-CRIMINOLÓGICAS

2021

Research typically employs essentialist and static representations of masculinity to deal with of male violence against women. Masculinity is thereby linked to pre-social phenomena, naturalized categories, and to identity configurations that are defined as dangerous, due to biological, ethno-racial or class characteristics/configurations. Conversely, a sociologically oriented critical criminology concerned in the relationship between masculinity and crime should interrogate the ways in which, at the social level, committing a deviant or criminal conduct is intertwined with achieving male status and power. We will thus re-read the issue of violence against women as a male problem, that is, a…

La necesidad de la teoría

2021

The need for theory is particularly necessary in our time, uncertain due to the crisis of foundations and knowledge for which architecture itself has become complex, full of contradictions, marked by infinite paths and sometimes unstable. The project cannot be entrusted to the contingencies of each case; creativity itself, daughter of intuition and chance, needs to be "worked" within the law, which is born from the mind and is built with logic so that the forms are appropriate and that everything is in the right place and to the extent. Especially in the Project Courses/Workshops of the first years, which constitute an "initiation" to the project, facing the theoretical moment is necessary …

Il diritto ad aspirare nelle geografie dei bambini. Una ricerca-azione partecipativa nel quartiere CEP di Palermo

2021

Questo lavoro si propone di indagare criticamente il ruolo che le aspirazioni urbane, vale a dire la capacità collettiva di immaginare spazi alternativi per le proprie città, hanno nella costruzione delle geografie quotidiane delle bambine e dei bambini. In linea con i presupposti della Political Geography of Children, bambine e bambini vengono qui consi-derati come attori socio-spaziali capaci di rinegoziare pratiche e rappresentazioni imposte dagli adulti. Muovendo da queste considerazioni teoriche e dai principi metodologici della ricerca-azione partecipativa, analizzeremo il percorso laboratoriale organizzato con le ragazze e i ragazzi dell’Associazione San Giovanni Apostolo del CEP di …

Introduction

2021

Exploring the mediator role of self-critical rumination between emotion regulation and psychopathology: A validation study of the Self-Critical Rumin…

2021

Abstract Self-critical rumination is a negative and repetitive self-thinking process related to different disorders and negative psychological outcomes such as emotion dysregulation. The objectives of this study are twofold: (a) to examine the factor structure of the Spanish version of the Self-Critical Rumination Scale (SCRS), providing further evidence on its construct validity, and (b), to explore the mediator role of self-critical rumination between emotion dysregulation and psychopathology. A sample of 431 Spanish participants were recruited and completed online questionnaires. Confirmatory factor analysis, mediation analysis, and Pearson's correlations were conducted. A single factor …

RNA marker modifications reveal the necessity for rigorous preparation protocols to avoid artifacts in epitranscriptomic analysis

2021

Abstract The accurate definition of an epitranscriptome is endangered by artefacts resulting from RNA degradation after cell death, a ubiquitous yet little investigated process. By tracing RNA marker modifications through tissue preparation protocols, we identified a major blind spot from daily lab routine, that has massive impact on modification analysis in small RNAs. In particular, m6,6A and Am as co-varying rRNA marker modifications, appeared in small RNA fractions following rRNA degradation in vitro and in cellulo. Analysing mouse tissue at different time points post mortem, we tracked the progress of intracellular RNA degradation after cell death, and found it reflected in RNA modific…

Towards ductilization of high strength 7XXX aluminium alloys via microstructural modifications obtained by friction stir processing and heat treatmen…

2021

Abstract High strength 7XXX aluminium series reach exceptional strength, higher than all other industrial aluminium alloys. However, they suffer from a lack of ductility compared to softer series. This work presents a procedure to improve the ductility of 7475 Al alloy in high strength condition, reaching a true fracture strain of 70% at full 500 MPa T6 yield strength. Using friction stir processing (FSP) and post-FSP heat treatments, 100% of industrial rolled material T6 yield stress is maintained but a 180% increase in fracture strain is measured for the processed material. This ductility improvement is studied by in-situ synchrotron X-ray tomography and is explained by the reduction of i…

Lentil Fortified Spaghetti: Technological Properties and Nutritional Characterization

2021

Lentil (Lens culinaris), consumed as a part of the diet worldwide, is a functional dietary ingredient that plays a function in human nutrition as a rich source of bioactive nutrients (low quantities of fat, sodium, and vitamin K

Biological activity and toxicity of plant nutraceuticals: an overview

2021

Plant nutraceuticals have currently been receiving international attention due to their potentially health-promoting effects when consumed as part of a varied diet, including antioxidant, anti-inflammatory, and anti-proliferative properties. These beneficial effects have been attributed to the presence of bioactive compounds naturally occurring in food or produced de novo through metabolic pathways. However, taken into account that nutraceuticals could be concentrated forms of the food or plants, it is probable to find undesirable substances utilized in crop protection, such as pesticides, and other contaminants (e.g. mycotoxins), which could be concentrated during the extraction process. H…

Understanding the Origins of Problem Geomagnetic Storms Associated with "Stealth" Coronal Mass Ejections.

2021

Geomagnetic storms are an important aspect of space weather and can result in significant impacts on space- and ground-based assets. The majority of strong storms are associated with the passage of interplanetary coronal mass ejections (ICMEs) in the near-Earth environment. In many cases, these ICMEs can be traced back unambiguously to a specific coronal mass ejection (CME) and solar activity on the frontside of the Sun. Hence, predicting the arrival of ICMEs at Earth from routine observations of CMEs and solar activity currently makes a major contribution to the forecasting of geomagnetic storms. However, it is clear that some ICMEs, which may also cause enhanced geomagnetic activity, cann…

Questionnaires and simulations to assess daylighting in Italian university classrooms for IEQ and energy issues

2021

Abstract Results from the DAYKE-Italy project are presented. An investigation on daylighting in eight classrooms in five Italian universities was carried out through a combined approach: an ad-hoc survey administered to students to investigate how they perceive daylight in classroom, and numerical simulations (DIVA + ALFA) to calculate a set of objective metrics (daylight, circadian, and energy-related). A sample of 542 questionnaires was collected through two sessions and the subjective judgments were correlated to objective metrics. Results from descriptive and statistical analyses showed: (i) the correlation was significant for all daylight metrics: among them, average daylight factor an…

Custom measurement system for memristor characterisation

2021

Abstract A cheap, compact and customisable characterisation system for memristor devices, working between ± 10 V, is presented. SPICE (Simulation Program with Integrated Circuit Emphasis) simulations are performed to verify the circuit feasibility and a proper software is developed to drive the system. The potentiality of the realised system is tested by performing several electrical measurements on both Cu/HfO2/Pt memristors and two-terminals commercial devices.

The acute effects of different high-intensity conditioning activities on sprint performance differ between sprinters of different strength and power …

2021

The purpose of the present study was to examine the effect of different conditioning activities (CAs) on short-term increase in sprint performance. In twelve male sprinters (21.1+2.6 years, 100 m performance: 11.5+0.6 s) their body composition, half squat maximum strength, 100 m sprinting and countermovement jump performances were evaluated. The performance of a 50 m sprint (splits at 10 m, 30 m and 50 m) was evaluated before and 5, 10 and 15 min after four postactivation performance enhancement CAs on different occasions: [1] 3 sets x 4 s maximum isometric half squat (IHF), [2] 3 sets x 3 consecutive countermovement jumps (cCMJs), [3] 3 repetitions x 30 m overspeed sprinting (OVSP) and [4]…