DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome

BackgroundGrowth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a relatively early sign of poor health. The association of short stature and dysmorphic features should always lead to exclude an underlying syndromic disorder.Case presentationWe report the case of an Indian school-aged boy with dysmorphic features, intellectual disability and a clinical history characterized by seizures and hearing problems. Although his height was always included in the normal range for age and sex throughout childhood, he presented a short near-adult stature in relation to his mid-parent sex-adjusted target height. This is probably due to a rapidly progressive pubertal development.ConclusionsIn the presence of characteristic dysmorphic features, intellectual disability, seizures and hearing problems, KBG syndrome should always be considered. This emergent condition presents a wide spectrum of clinical phenotypes and is often associated with adult short stature

The plague walker: Nature according to Nicholas Machiavelli

A partir de la referencia a las pestes y los desastres naturales que hace Maquiavelo en el capítulo quinto del segundo libro de Discursos sobre la primera década de Tito Livio y en un texto denominado Epístola de la peste que recientemente fue otorgado a su autoría, se analizarán las distintas acepciones que toma la naturaleza. En primer lugar, desarrollamos la primera acepción de la naturaleza, entendida en tanto cosmos. Ésta remite a un principio de movimiento cíclico regido por el movimiento de los cielos. En segundo lugar, identificamos una segunda noción de naturaleza, asociada al orden telúrico. En tercer lugar, hacemos mención a un tercer significado de la naturaleza, vinculado al ser humano. Ésta tiene que ver con una serie de características, temperamentos, disposiciones y pasiones que animan el accionar de los seres humanos, y que Maquiavelo piensa tanto en términos individuales como colectivos. Por último, observamos que, en la obra de Maquiavelo, estas distintas acepciones de la naturaleza conviven y se articulan con la fortuna, la cual introduce un principio de indeterminación y contingencia en el mundo, que gobierna la condición de los tiempos en los asuntos humanos. De estos cuatro aspectos nos abocaremos en este artículo.Parting from the references to the plagues and natural disasters written by Machiavelli in the fifth chapter of the second book of Discourses on the first decade of Tito Livio and in a text called Epistle of the plague that was recently acknowledged to have been written by him, the different meanings that ‘nature’ takes will be analyzed. First, an idea of nature as a cosmos is presented. Here ‘nature’ indicates a principle of cyclical movement governed by the movement of the skies. Second, nature appears as being associated with a telluric order. Third, there are mentions to the term ‘nature’ with regard to the nature of human beings, which is linked to a series of characteristics, temperaments, dispositions, and passions that trigger the actions of humans, which Machiavelli associates both with populations and individuals. Finally, it is possible to identify in Machiavelli’s work these different meanings of the word ‘nature’ that exist alongside the idea related to the nature of fortune. The latter introduces an uncertainty and a contingency principle in the world, which governs the condition of times in human affairs. This article will address these four aspects.Fil: Castorina, Franco Patricio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Sociales. Instituto de Investigaciones "Gino Germani"; ArgentinaFil: Mattei, Eugenia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Sociales. Instituto de Investigaciones "Gino Germani"; Argentin

Phenotypic Overlap in Children with Tall Stature: A Case of Weaver Syndrome

Introduction: Tall stature is defined as length or height more than two standard deviations above the mean for age of the refer- ence population. There are different causes of tall stature from a familial trait or a transient anticipation of growth with no major consequences to growth disorders, such as endocrine disorder and syndromic conditions like overgrowth syndromes. Case Presentation: In this study, we reported the case of a 7-year-old girl with tall stature from birth. The patient showed a general- ized overgrowth, associated with extremely advanced bone age, dysmorphic features such as a broad forehead and large extremities, and a slight neurodevelopmental delay. Laboratory tests were normal, and the main hormonal disorders were ruled out. The diag- nosis of overgrowth syndrome was suspected according to the clinical presentation, and the diagnosis of Weaver syndrome was confirmed by the finding of the pathogenic mutation c.2050C > T p.(Arg684Cys) in EZH2 gene through next generation sequencing (NGS). Conclusions: Our patient showed phenotypical features related to different overgrowth syndrome characteristics. We underlined the difficulties in reaching a clinical diagnosis in presence of tall stature. The role of molecular biology, particularly genetic analysis by NGS approach, should be considered in cases of tall stature with phenotypic overlap

Fourteen years’ clinical experience and the first million babies protected with human live-attenuated vaccine against rotavirus disease in Italy

Rotavirus (RV) causes up to half of hospital and community acute gastroenteritis (AGE) cases in young children in Italy. Two RV vaccines, available since 2006, are human RV (HRV) and human bovine RV (HBRV). This report looks back at the implementation of RV vaccination with HRV in Italy, and at HRV current and future perspectives. Initial regional policies led to national implementation by 2018, after scientific societies’ disease awareness efforts. Following vaccination, RV hospitalizations declined significantly, and cost savings were observed. The two-dose HRV vaccine is easily administered during compulsory vaccine visits, helping increase coverage. Intussusception, a serious event in children <1 year, was reported in Italy with a rate of 33–40 per 100,000 infants. RV vaccination presents a low increased risk of intussusception after the first dose, estimated at 0.6 cases per 100,000 doses in Italy in 2019. Parents should be aware of the intussusception risk and symptoms to ensure prompt treatment. It is widely recognized that the vaccination benefits (large numbers of RV hospitalizations prevented) outweigh the risk. HRV introduction in Italy was supported by epidemiologic burden studies, healthcare provider opinions, and congress debates, which significantly contributed to implementation of RV universal routine infant vaccination in Italy

IUC Independent Policy Report: At the End of the End of History

The IUC Independent Policy Report was drafted by the IUC Legal Standards Research Group, organized by a Steering Committee chaired by Ugo Mattei (International University College of Turin), coordinated by Edoardo Reviglio (International University College of Turin) and Giuseppe Mastruzzo (International University College of Turin), and composed by Franco Bassanini (University of Rome “La Sapienza”), Guido Calabresi (Yale University), Antoine Garapon (Institut des Hautes Etudes sur la Justice, Paris), and Tibor Varady (Central European University, Budapest). Contributors include Eugenio Barcellona (Eastern Piedmont University), Mauro Bussani (University of Trieste), Giuliano G. Castellano (Ecole Polytechnique Preg/CRG), Moussa Djir´e (Bamako University), Liu Guanghua (Lanzhou University), Golnoosh Hakimdavar (University of Turin), John Haskell (SOAS), Jedidiah J. Kroncke (Yale Law School), Andrea Lollini (Bologna University), Alberto Lucarelli (Federico II University), Boris N. Mamlyuk, (University of Turin), Alberto Monti (Bocconi University), Sergio Ariel Muro (Torquato di Tella University), Domenico Nicol`o (Mediterranean University of Reggio Calabria), and Nicola Sartori (University of Michigan). The IUC Independent Policy Report argues for a radical change of perspective, capable of restoring the supremacy of the law over the economic system. It is not only about finance, nor is it only about economics or policy. In this sense a transnational set of normative principles is needed in order to establish a global legal system capable of controlling economic processes, rather than being controlled by them. Within this framework a series of policy proposals are presented in order to effectively implement a new system of global standards. The current Western standard of living is unsustainable. Should the rest share the model of development of the West, our planet will simply not be capable of resisting the growth in consumption and pollution. Within this fundamental setting of scarcity in resources, using the rhetoric of the end of history as the polar star for growth, development and ultimately happiness of the whole world is simply a cynical lie. We argue here for the beginning of a necessary process aimed at the development of a legal system that is much less about creating an effcient backbone for an exploitive economy and much more about a vision of civilization, justice and respect where the laws of nature and those of humans converge in a sustainable long-term philosophy. Principles of justice, responsibility and long term environmental protection, rather than short term economic contingency and strong interests must set the legal agenda. A new governance and bottom-up inclusive integration of knowledge-based economies (wherever located), which is crucial to the very survival of humankind, cannot happen without defning new terms of a widely accepted standard of long term justice in the transnational context, hence the urgency to conceive legitimate transnational legal structures and possibly some apparatus of “superlegality.” The report is composed of fve sections. After having presented the pitfalls of the prevailing theoretical apparatus, an alternative cultural grid upon which policy actions should be shaped is presented. In this sense several normative proposals - revisiting the key characteristics of the current system - are offered aiming at acquiring a wider perspective over the actual global crisis

The Impact of the COVID-19 Pandemic on the Mental Health of Healthcare Workers in Italy: Analyzing the Role of Individual and Workplace-Level Factors in the Reopening Phase After Lockdown

IntroductionItaly is one of the high-income countries hit hardest by Covid-19. During the first months of the pandemic, Italian healthcare workers were praised by media and the public for their efforts to face the emergency, although with limited knowledge and resources. However, healthcare workers soon had to face new challenges at a time when the national health system was working hard to recover. This study focuses on this difficult period to assess the impact of the COVID-19 pandemic on the mental health of Italian healthcare workers. Materials and MethodsHealthcare workers from all Italian regions [n = 5,502] completed an online questionnaire during the reopening phase after the first wave lockdown. We assessed a set of individual-level factors (e.g., stigma and violence against HCWs) and a set of workplace-level factors (e.g., trust in the workplace capacity to handle COVID-19) that were especially relevant in this context. The primary outcomes assessed were score >= 15 on the Patient Health Questionnaire-9 and score >= 4 on the General Health Questionnaire-12, indicators of clinically significant depressive symptoms and psychological distress, respectively. Logistic regression analyses were performed on depressive symptoms and psychological distress for each individual- and workplace-level factor adjusting for gender, age, and profession. ResultsClinically significant depressive symptoms were observed in 7.5% and psychological distress in 37.9% of HCWs. 30.5% of healthcare workers reported having felt stigmatized or discriminated, while 5.7% reported having experienced violence. Feeling stigmatized or discriminated and experiencing violence due to being a healthcare worker were strongly associated with clinically significant depressive symptoms [OR 2.98, 95%CI 2.36-3.77 and OR 4.72 95%CI 3.41-6.54] and psychological distress [OR 2.30, 95%CI 2.01-2.64 and OR 2.85 95%CI 2.16-3.75]. Numerous workplace-level factors, e.g., trust in the workplace capacity to handle COVID-19 [OR 2.43, 95%CI 1.92-3.07] and close contact with a co-worker who died of COVID-19 [OR 2.05, 95%CI 1.56-2.70] were also associated with clinically significant depressive symptoms. Similar results were found for psychological distress. ConclusionsOur study emphasizes the need to address discrimination and violence against healthcare professionals and improve healthcare work environments to strengthen the national health system's capacity to manage future emergencies

AATF/Che-1 RNA polymerase II binding protein overexpression reduces the anti-tumor NK-cell cytotoxicity through activating receptors modulation

IntroductionAATF/Che-1 over-expression in different tumors is well known and its effect on tumorigenicity is mainly due to its central role demonstrated in the oncogenic pathways of solid tumors, where it controls proliferation and viability. The effect exerted by tumors overexpressing Che-1 on the immune response has not yet been investigated.MethodsStarting from ChIP-sequencing data we confirmed Che-1 enrichment on Nectin-1 promoter. Several co-cultures experiments between NK-cells and tumor cells transduced by lentiviral vectors carrying Che-1-interfering sequence, analyzed by flow-cytometry have allowed a detailed characterization of NK receptors and tumor ligands expression.ResultsHere, we show that Che-1 is able to modulate the expression of Nectin-1 ligand at the transcriptional level, leading to the impairment of killing activity of NK-cells. Nectin-1 down-modulation induces a modification in NK-cell ligands expression able to interact with activating receptors and to stimulate NK-cell function. In addition, NK-cells from Che-1 transgenic mice, confirming a reduced expression of activating receptors, exhibit impaired activation and a preferential immature status.DiscussionThe critical equilibrium between NK-cell ligand expression on tumor cells and the interaction with NK cell receptors is affected by Che-1 over-expression and partially restored by Che-1 interference. The evidence of a new role for Che-1 as regulator of anti-tumor immunity supports the necessity to develop approaches able to target this molecule which shows a dual tumorigenic function as cancer promoter and immune response modulator

IUC Independent Policy Report: At the End of the End of History: Global Legal Standards: Part of the Solution or Part of the Problem?

This draft was presented at the seminar, Global Standards in the 21st Century, organized by the G8 Presidency in Rome at the Ministry of Economy and Finance and Villa Madama on the 11-12th of May 2009. The IUC Independent Policy Report was drafted by the IUC Legal Standards Research Group, organized by a Steering Committee chaired by Ugo Mattei (International University College of Turin), coordinated by Edoardo Reviglio (International University College of Turin) and Giuseppe Mastruzzo (International University College of Turin),The IUC Independent Policy Report prepared by a group of lawyers at the International University College of Turin was presented at the meeting convened by the G8 Presidency in Rome on May 12, 2009.The IUC Independent Policy Report was drafted by the IUC Legal Standards Research Group, organized by a Steering Committee chaired by Ugo Mattei (International University College of Turin), coordinated by Edoardo Reviglio (International University College of Turin) and Giuseppe Mastruzzo (International University College of Turin), and composed by Franco Bassanini (University of Rome “La Sapienza”), Guido Calabresi (Yale University), Antoine Garapon (Institut des Hautes Etudes sur la Justice, Paris), and Tibor Varady (Central European University, Budapest). Contributors include Eugenio Barcellona (Eastern Piedmont University), Mauro Bussani (University of Trieste), Giuliano G. Castellano (Ecole Polytechnique Preg/CRG), Moussa Djir´e (Bamako University), Liu Guanghua (Lanzhou University), Golnoosh Hakimdavar (University of Turin), John Haskell (SOAS), Jedidiah J. Kroncke (Yale Law School), Andrea Lollini (Bologna University), Alberto Lucarelli (Federico II University), Boris N. Mamlyuk, (University of Turin), Alberto Monti (Bocconi University), Sergio Ariel Muro (Torquato di Tella University), Domenico Nicol`o (Mediterranean University of Reggio Calabria), and Nicola Sartori (University of Michigan). The IUC Independent Policy Report argues for a radical change of perspective, capable of restoring the supremacy of the law over the economic system. It is not only about finance, nor is it only about economics or policy. In this sense a transnational set of normative principles is needed in order to establish a global legal system capable of controlling economic processes, rather than being controlled by them. Within this framework a series of policy proposals are presented in order to effectively implement a new system of global standards. The current Western standard of living is unsustainable. Should the rest share the model of development of the West, our planet will simply not be capable of resisting the growth in consumption and pollution. Within this fundamental setting of scarcity in resources, using the rhetoric of the end of history as the polar star for growth, development and ultimately happiness of the whole world is simply a cynical lie. We argue here for the beginning of a necessary process aimed at the development of a legal system that is much less about creating an effcient backbone for an exploitive economy and much more about a vision of civilization, justice and respect where the laws of nature and those of humans converge in a sustainable long-term philosophy. Principles of justice, responsibility and long term environmental protection, rather than short term economic contingency and strong interests must set the legal agenda. A new governance and bottom-up inclusive integration of knowledge-based economies (wherever located), which is crucial to the very survival of humankind, cannot happen without defning new terms of a widely accepted standard of long term justice in the transnational context, hence the urgency to conceive legitimate transnational legal structures and possibly some apparatus of “superlegality.” The report is composed of fve sections. After having presented the pitfalls of the prevailing theoretical apparatus, an alternative cultural grid upon which policy actions should be shaped is presented. In this sense several normative proposals - revisiting the key characteristics of the current system - are offered aiming at acquiring a wider perspective over the actual global crisi