1,318 research outputs found
La chiesa di Santa Maria Maggiore a Trento: i risultati finali sui primi edifici cristiani (secolo V-X d.C.)
No full textIl contributo riprende i risultati, già in più occasioni resi noti, dello scavo effettuato tra gli anni 2007 e 2010, in un quadro che valorizza il nuovo assetto urbanistico della città romana, trasformandolo e adeguandolo alle nuove esigenze di carattere politico, religioso e sociale in seguito al processo di cristianizzazione. I dati archeologici confermano la presenza di un edificio religioso monumentale solo a partire dalla seconda metà-fine del V secolo d.C., apparentemente in contrasto con i dati delle fonti agiografiche ma reinterpretate in base alle nuove evidenze materiali. I dati emersi dallo scavo archeologico hanno confermato la successione di edifici pubblici che, a partire dall’età romana imperiale, insistono sempre sullo stesso settore e trovano la loro collocazione finale nella chiesa voluta da Bernardo Clesio, compresi i successivi interventi di restauro occorsi fino al XX secolo.The contribution includes the results already known of the excavation carried out between the years 2007 and 2010, within a framework that values the new layout of the Roman town, turning it and adjusting it to the new demands of a political nature, religious and social following the process of Christianization. The archaeological data confirm the presence of a monumental religious building only in the second half-the end of the fifth century a.d., apparently in contrast with data from hagiographic sources but reinterpreted based on new material evidences. Archaeological excavation data confirmed the succession of public buildings, from the Roman Empire, always insist on the same field and find their final placing in the Church willed by Bernardo Clesio, including the subsequent restoration work occurred until the 20th century
Maria Teresa Horta jornalista: percurso, memória e circunstâncias
No full textThe present article aspires at reconstructing the journalistic career of Maria Teresa Horta, whose relevance is justified by the dimension of her literary legacy, along with the contribution given to the feminist movement in Portugal. Through an expository itinerary of her professional chronology, we will endeavour to unveil the context of her exercise of this profession, the editorial structures she was part of, her publications and her professional peers. Building from the professional narrative of the author of Minha Senhora de Mim, we will attempt to account for the specificities of different media structures and the challenges and problems Maria Teresa faced during the multiple decades that she practised journalism. To this end, we have created a fundamental separation in the text, between the period running up to the April 1974 Revolution and the period thereafter. Finally, we will aim to underline the gender dimension in the journalistic experience of Maria Teresa Horta.O presente artigo tem como propósito a reconstrução do percurso jornalístico de Maria Teresa Horta, cuja pertinência se justifica pela dimensão da obra literária, a par da marca insuprível que imprimiu no feminismo em Portugal. Procuraremos, num itinerário expositivo da sua cronologia profissional, desvelar os contextos de exercício ocupacional, os conselhos editoriais que integrou, as publicações e os pares profissionais que conheceu. A partir da narrativa da autora de Minha Senhora de Mim, tentaremos dar conta das especificidades das várias estruturas de media e dos desafios e problemas impostos ao longo das várias décadas de prática jornalística. Para tal, estabelecemos uma divisão fundamental no texto, respeitante ao período que antecedeu a Revolução de Abril de 1974 e àquele que lhe sucedeu. Procuraremos, finalmente, sublinhar a dimensão do género na sua vivência jornalística. 
Maria Teresa Biagetti, Aldis Gedutis, Towards Ethical Principles of Research Evaluation in SSH.
No full textTowards Ethical Principles of Research Evaluation in SSH This paper is an interdisciplinary attempt to map rather unexamined ethical subfield in the broader scientific field of Research Evaluation. Some needs in the area of Research Evaluation are based on qualitative criteria. For this reason it is important to employ assessment criteria based on ethical principles and to have available shared guidelines to research evaluation ethics. Evaluative Bibliometrics uses quantitative criteria (the count of publications and citation analysis) to assess the works of scholars to have rewards, and it produces rankings of institutions for distributing resources. It is, thus, worthwhile to consider that the Evaluative Bibliometrics also requires to employ ethical principles (Furner, 2014). According to Furner, needs of ethical principles in Evaluative Bibliometrics may concern the following: (1) identification of the values held by the members of subgroups that are responsible for actions taken in the course of bibliometric evaluations; (2) identification of the principles for which the members of each subgroup advocate; (3) transparency about the statistical methodologies used and clear description of the results. Moreover, the evaluation process should be based on verified evidence and be unbiased, therefore, statisticians should present results based only on observed phenomena. In the field of Sociology of science, Richard Whitley emphasized that the systems of research evaluation (RES) affect the organization and governance of knowledge production. Strong research evaluation systems ̶ with high standardization, rules and procedures formally established for evaluation and publication of results ̶ influence the research strategies of universities and research institutes, with differences between various scientific fields (Whitley, 2007). Among consequences of strong retrospective assessment systems there is the restriction on universities’ independence in pursuing unorthodox methodologies, in developing innovative theories, and the dissuasion to establish new fields of research in disagreement with dominant disciplinary ideals. The impact of RES is more evident on sciences that present a high level of research objectives coordination, a high level of mutual dependence between scientists to maintain scientific reliability and a high cohesion of scientific elites. In contrast, it is lower in Social Sciences and Humanities (SSH), which present a significantly lower level of scientific production organization, a higher level of disciplinary fragmentation, a higher grade of uncertainty about scientific objectives and a lower level of mutual dependence on disciplinary elites (Whitley, 1984: 87-95; 159-160). Holding in high regard Whitley’s deep analysis, we assume that Research Evaluation plays a fundamental role both in the development of disciplines and in the career advancements of researchers. It is expected to impact on the development of scientific fields, as it may limit novelty and inventiveness of emerging researchers, which must conform to the dominant elites to achieve academic consensus (Whitley, Gläser and Laudel, 2018). This is the reason why ethical principles to support the assessing procedures and shared guidelines for ethical behaviour are highly required. In the field of Evaluation Ethics, the most part of researches are devoted to the evaluation of social projects, to highlight ethical involvements from the point of view of evaluators (Morris, 2008; Schwandt, 2015) and to investigate ethical dilemmas in professional behaviour and in program evaluation, stressing on the problems that arise from the relationships between evaluators and stakeholders and clients (Newman and Brown, 1996). The purpose of this work is not to address issues of Evaluation Ethics from the point of view of evaluators of projects and the ethical challenges that arise in different professions, but to examine the core of Evaluation ethics in connection to Research Ethics, and to assume from the available guidelines for the Research Ethics suggestions and indications for providing guidelines for Research Evaluation in SSH. There are different research evaluation situations in SSH: ex ante research evaluation: attribution of competitive research funding (national or international); ex post research evaluation: reviews after call for papers, articles to be published in scientific journals or in proceedings of scientific conferences; institutional evaluations by Ministries of Education, or national habilitation procedures, but also attribution of funding based on the evaluation of careers and scientific production. Both ex ante and ex post evaluations are involved in funding allocation. In both cases ethical issues are relevant: in ex ante evaluation it is required to verify the feasibility of the research project, involving the stakeholders that should collaborate; in ex post evaluation are involved judgements on careers of researchers. Thus, analysing different contexts, which might be applicable to the Research evaluation ethics, we faced a series of difficulties. First, the field is underdeveloped: majority of researchers do participate in various research evaluation procedures on different levels, but nobody bothers to provide the clear and intelligible set of ethical rules and/or recommendations. Second, there are loads of the issue related material, which is mostly irrelevant as it is scattered between the not-inter-related fields and as a rule is too general and abstract for the ethical research evaluation guidelines. Third, this to-be-established field of the Research evaluation ethics neighbours with two disconnected albeit important fields: (1) Research ethics, which covers mostly natural sciences and psychology and do not think of another SSH, especially, humanities; (2) Evaluation ethics, which mainly aims at evaluation of different social programmes, not concentrating on research. Fourth, the above-mentioned ethical attempts lack sufficient theoretical background in ethical theories as it is by no means clear what is expected from an evaluator as a moral agent. In order to tackle these shortcomings and to provide tentative principles in Research evaluation ethics, available materials and data in the fields of Research ethics and Evaluation ethics should be analysed, compared and combined with those of ethical theories. The most relevant Research ethics sources: ALLEA The European Code of Conduct for Research Integrity (2017), ESRC Framework for Research Ethics (2015), DFID Review of Ethics Principles and Guidance in Evaluation and Research (2015), ESF Peer Review Guide (2011), The Norwegian National Committees for Research Ethics etc., as well as works by researchers such as Robert Merton (1973), David R. Resnik (1998), Michael Morris (2008), Thomas Schwandt (2015), Henrikka Mustajoki and Arto Mustajoki (2017) etc. Data for Evaluation ethics is provided by UNEG Ethical Guidelines for Evaluation (2008), as well as by guidelines found in the documents of American Evaluation Association, Australasian Evaluation Society, Canadian Evaluation Society, Czech Evaluation Society, (German) Evaluation Society, Japan Evaluation Society, Swiss Evaluation Society etc. Both Research ethics and Evaluation ethics provide certain moral principles to deal with proper conduct in their ethics-related situations. In Research ethics the most frequent principles and/or values are the following: rigour, reliability, respect, responsibility, honesty, value-free etc. Accordingly, Evaluation ethics is meant to be grounded in autonomy, nonmaleficence, beneficence, responsibility, justice, fidelity etc. These principles are classified and reinterpreted with the help of toolboxes provided by relevant ethical theories. For our purposes three types of ethical theories are relevant and should be taken into consideration: Deontological ethics: What are moral agent‘s duties to perform? Who or what justifies moral duties? What are rules of research evaluation? Utilitarian ethics: What consequences can be achieved by the action of moral agent? Will they increase common good? What evaluation strategies provide best moral consequences (for society in general, for evaluators and the evaluated)? Virtue ethics: What is moral phronesis? What are the virtues and moral character of a moral person? What are moral characteristics of evaluators? We consider the five ethical principles for evaluation (suggested by Karen S. Kitchener in 1984 for psychological field, and again presented by Newman and Brown 1996, also represented by Resnik 1998, Mustajoki and Mustajoki 2017): Respect for autonomy; Non maleficence (do not harm, do not cause injury); Beneficence (to do good); Justice: procedural (decisions that impact on scholars) and distributive (resources allocation); Fidelity (honesty, integrity). Non maleficence and procedural and distributive Justice are the topics most relevant for our purposes. With the aim of developing and constructing a tentative set of minimal moral requirements and guidelines applicable to the Ethics of research evaluation in the contexts of peer review, ex ante and ex post research evaluations, we try to suggest the following lines to adopt in SSH. Following suggestions from the most relevant Research ethics aforementioned sources, we identified the concept of objectivity (Daston and Galison, 2007), applied to the critical evaluation, as the most relevant for our purposes. Professional ethics of evaluation involves the absence of bias: political, personal, cultural, disciplinary, etc. and an evidence-based evaluation. A general guideline could be to distinguish three aspects: 1) the identification and analysis of the object of a work; 2) the subjective judgement; 3) the possible stakeholders. The aim of our work is to suggest guidelines for Research Evaluation in SSH grounded on the specific characteristics of the sciences that must be evaluated. A characteristic of History, for instance, is the use of historical sources. A historical monograph based on unknown, or never used, important sources, such as archival documentation, must be, of course, recognized as a work that brings about an important contribution to the field. In this case, an ethical principle should be the identification of the objective relevance of the work. On the other hand, the subjective judgement could highlight methods and procedures in using the sources (archival documentation), how well the author has analysed the documents, or what are the borders of the subjective opinion etc. Finally, what benefits of the research at hand give to possible stakeholders (professional community or wider public)? References Daston, Lorraine and Galison, Peter. 2007. Objectivity. New York: Zone Books. Furner, Jonathan 2014. The Ethics of Evaluative Bibliometrics, in: Cronin, B. and Sugimoto, C. R. (eds.) Beyond Bibliometrics: Harnessing Multidimensional Indicators of Scholarly Impact. Cambridge, Mass. and London: The MIT Press, pp. 85-107. Merton, Robert 1973. The Sociology of Science: Theoretical and Empirical Investigations. Chicago: The University of Chicago Press. Morris, Michael (ed.) 2008. Evaluation Ethics for Best Practice. Cases and Commentaries. New York: The Guilford Press. Morris, Stephan G. 2015. Science and the End of Ethics. Palgrave Macmillan. Mustajoki, Henrikka and Mustajoki, Arto. 2017. New Approach to Research Ethics: Using Guided Dialogue to Strengthen Research Communities. London and New York: Routledge. Newman, Dianna L. and Brown, Robert D. 1996. Applied Ethics for Program Evaluation. Thousand Oaks: SAGE Publications. Resnik, David B. 1998. The Ethics of Science: An Introduction. London: Routledge. Schwandt, Thomas A. 2015. Evaluation Foundations Revisited: Cultivating a Life of the Mind for Practice. Stanford: Stanford University Press. Whitley, Richard 1984. The Intellectual and Social Organization of the Sciences, Oxford: Clarendon Press. Whitley, Richard 2007. Changing Governance of the Public Sciences. The Consequences of Establishing Research Evaluation Systems for Knowledge Production in Different Countries and Scientific Fields, in: Whitley, R. and Gläser, J. (eds.) The Changing Governance of the Sciences. The Advent of Research Evaluation Systems. Dordrecht, the Netherlands: Springer, pp. 3-27. Whitley, Richard, Gläser, Jochen and Laudel, Grit 2018. The Impact of Changing Funding and Authority Relationships on Scientific Innovations, “Minerva”, 56:109-134
Narrativas bíblicas na poética de Maria Teresa Horta
No full textOrientação: José Brissos-Lino; co-orientação: Paulo Mendes PintoA partir da análise de três obras poéticas de Maria Teresa Horta procuramos apurar o legado das narrativas bíblicas no seu universo ficcional/poético e de como o divino está impregnado na imaginação da autora. A partir da desconstrução do cânone, Maria Teresa Horta humaniza a relação de Maria e do anjo Gabriel, denúncia a natureza sexual dos anjos e reivindica para as feiticeiras a liberdade que, ainda agora, considera indispensável às mulheres, reflexo da sua atividade enquanto feminista. Apesar de ter recusado a fé católica na adolescência, as narrativas bíblicas surgem na obra da autora e, na sua reinterpretação, há um gesto político, de denúncia, de ousadia.From the analysis of three poetic works of Maria Teresa Horta we try to ascertain the legacy of the biblical narratives in her fictional / poetic universe and also to show how the divine is impregnated in the author. From the canon's deconstruction, Maria Teresa Horta humanizes the relationship of Mary and the angel Gabriel, denounces the sexual nature of the angels and claims to the sorceresses the freedom which, even now, considers essential to women, a reflexion of her own feminism. Despite having rejected the Catholic faith in adolescence, the biblical narratives appear in her work, in its reinterpretation there is a political gesture, denunciation, daring
Mutations in α- and β-tubulin encoding genes: implications in brain malformations
No full textThe tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with a specific spatial and temporal expression pattern. Members of this family encode dimeric proteins consisting of two closely related subunits (α and β), representing the major constituents of microtubules. Tubulin genes play a crucial role in the mechanisms of the Central Nervous System development such as neuronal migration and axonal guidance (axon outgrowth and maintenance). Different mutations in α/β-tubulin genes (TUBA1A, TUBA8, TUBB2A, TUBB4A, TUBB2B, TUBB3, and TUBB) might alter the dynamic properties and functions of microtubules in several ways, effecting a reduction in the number of functional tubulin heterodimers and causing alterations in GTP binding and disruptions of the binding of other proteins to microtubules (motor proteins and other microtubule interacting proteins). In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders. Dysmorphisms of the basal ganglia (fusion between the caudate nucleus and putamen with absence of the anterior limb of the internal capsule) and hippocampi were also observed. A rare form of leukoencephalopathy characterized by hypomyelination with atrophy of the basal ganglia an cerebellum (H-ABC) was also recently described. The present review, describing the structural and functional features of tubulin genes, aims to revise the main cerebral associated malformations and related clinical aspects, suggesting a genotype-phenotype correlation
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature
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De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature
by Nenad Bukvic 1,2,*ORCID,Marta De Rinaldis 3,Massimiliano Chetta 4ORCID,Antonio Trabacca 5ORCID,Maria Teresa Bassi 6ORCID,René Massimiliano Marsano 7ORCID,Lenka Holoubkova 8,Maria Rivieccio 4,Maria Oro 4,Nicoletta Resta 1,2ORCID,Jennifer Kerkhof 9ORCID,Bekim Sadikovic 9,10 andLuigi Viggiano 7
1
Medical Genetic, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy
2
Medical Genetics Section, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy
3
Unit for Severe Disabilities in Developmental Age and Young Adults, Associazione “La Nostra Famiglia”—IRCCS “E. Medea”, Scientific Hospital for Neurorehabilitation, Piazza A. Di Summa, 72100 Brindisi, Italy
4
Medical Genetics Laboratory, A.O.R.N. Cardarelli, Building Y, 80127 Naples, Italy
5
Scientific Direction, Scientific Institute IRCCS Eugenio Medea, Via D. L. Monza 20, Bosisio Parini, 23842 Lecco, Italy
6
Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Via D. L. Monza 20, Bosisio Parini, 23842 Lecco, Italy
7
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy
8
ReStart—Professional Practice of Occupational Therapy, Via di Vittorio, 76125 Trani, Italy
9
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 3K7, Canada
10
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada
*
Author to whom correspondence should be addressed.
Genes 2024, 15(7), 826; https://doi.org/10.3390/genes15070826
Submission received: 20 May 2024 / Revised: 13 June 2024 / Accepted: 19 June 2024 / Published: 22 June 2024
(This article belongs to the Special Issue Molecular Basis and Genetics of Intellectual Disability)
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Abstract
FBRSL1, together with FBRS and AUTS2 (Activator of Transcription and Developmental Regulator; OMIM 607270), constitutes a tripartite AUTS2 gene family. AUTS2 and FBRSL1 are evolutionarily more closely related to each other than to FBRS (Fibrosin 1; OMIM 608601). Despite its paralogous relation to AUTS2, FBRSL1’s precise role remains unclear, though it likely shares functions in neurogenesis and transcriptional regulation. Herein, we report the clinical presentation with therapeutic approaches and the molecular etiology of a patient harboring a de novo truncating variant (c.371dupC) in FBRSL1, leading to a premature stop codon (p.Cys125Leufs*7). Our study extends previous knowledge by highlighting potential interactions and implications of this variant, alongside maternal and paternal duplications, for the patient’s phenotype. Using sequence conservation data and in silico analysis of the truncated protein, we generated a predicted domain structure. Furthermore, our in silico analysis was extended by taking into account SNP array results. The extension of in silico analysis was performed due to the possibility that the coexistence of FBRSL1 truncating variant contemporary with maternal and paternal duplication could be a modifier of proband’s phenotype and/or influence the novel syndrome clinical characteristics. FBRSL1 protein may be involved in neurodevelopment due to its homology with AUTS2, together with distinctive neuronal expression profiles, and thus should be considered as a potential modulation of clinical characteristics in a novel syndrome. Finally, considering that FBRSL1 is apparently involved in neurogenesis and in transcriptional regulatory networks that orchestrate gene expression, together with the observation that different genetic syndromes are associated with distinct genomic DNA methylation patterns, the specific episignature has been explored
Il “Reisealbum” di Fanny e Wilhelm Hensel
No full textFanny Hensel, nata Mendelssohn, viaggiò in Italia col marito Wilhelm ed il figlioletto Sebastian nel 1839 e 1840; tenne una sorta di diario musicale delle impressioni avute e delle emozioni provate nel viaggio. Si tratta del Reise-Album conservato presso la Staatsbibliothek di Berlino: questa bella copia, autografa, fu realizzata durante i mesi di viaggio su carte di colore diverso; vi si trovano una serie di composizioni di Fanny, Lieder per voce e pianoforte e Lieder ohne Worte nello stile del fratello Felix. Il marito pittore illustrò con vignette l’inizio di ogni brano, descrivendo le principali tappe. Partiti da Lipsia nel settembre 1839, ad ottobre visitarono Venezia: a pagina 7 v’è una barcarola per pianoforte in 6/8, accanto ad una gondola con sullo sfondo la chiesa di Santa Maria della Salute. Il 26 novembre furono a Roma e vi risedettero per sei mesi: alla pagina 23 c’è un quartetto vocale per due tenori e due bassi accanto al tipico paesaggio delle rovine romane, con tanto di pittore al lavoro, e sullo sfondo il Colosseo. Arrivarono a Napoli nel giugno 1840: ovviamente troviamo la veduta del Vesuvio con un brano per pianoforte Allegro molto, assai impegnativo da suonare, che ne vuole rendere la tremenda potenza (pagina 51). A luglio Wilhelm andò sino in Sicilia, ma moglie e figlio non lo seguirono per timore del caldo eccessivo. Le pagine del Reise-Album difatti non descrivono la Sicilia ma si soffermano su vari altri “paesaggi musicali”, di nuovo centro italiani, indi alpini, sino al rientro a casa. In questo contributo illustro comparativamente la ricezione iconografica e musicale di alcuni topoi caratterizzanti l’Italia presenti nel Reise-Album, dalle danze popolari ai quadretti di genere, domandandomi in che misura essa sia il frutto di cliché radicati nell’immaginario nord europeo oppure il risultato di esperienza diretta
Emergenza sostenibile. Metodi e strategie dell'archeologia urbana. Atti della Giornata di Studi, Bologna 27 marzo 2009
No full textIl volume raccoglie gli atti della Giornata di Studi "Emergenza sostenibile. Metodi e strategie dell'archeologia urbana" (27 marzo 2009), dedicata a temi strettamente correlati al panorama attuale e alle sorti dell'archeologia militante, in particolare in ambito urbano.
L’archeologia urbana costituisce infatti un problema che non riguarda soltanto la pianificazione dello spazio cittadino, ma anche e soprattutto la ricostituzione di un legame tra la comunità e il passato, che costituisce parte integrante del patrimonio culturale ma soprattutto del riconoscimento dell'identità di una collettività che si riconosce nel suo spazio vitale.
Testi di Cristina Bassi, Andrea Baroncioni, Maria Teresa Guaitoli, Daniela Locatelli, Luigi Malnati, Daniele Manacorda, Nicola Pagan, Nicoletta Pisu, Paola Poli, Tiziano Trocchi, Silvia Venturino, Massimo Zanfini, Andrea Zifferero
Maria José ao encontro de Tchekov
No full text“A Carta da Corcunda para o Serralheiro” (“Letter from the Hunchback Girl to the Metalworker”), signed by Maria José, was first performed in a theatre show in 1988 (by actress-director Maria do Céu Guerra), two years before the typescript was published in book form for the first time by Teresa Rita Lopes. The evidence upon which this article is built is that it was the theatre that revealed the dramatic destination of this singular epistle of the only female heteronym that Fernando Pessoa invented, which was also the last heteronym to be created by the author. The dramatic construction of Maria José can be approximated to the character-building strategies in Anton Chekhov’s realist dramaturgy, in a way that differs from Pessoa’s other dramaturgical experiences. The analysis of Chekhov’s ascendancy over Stanislavski’s research, as well as the importance of Schopenhauer’s conception of the tragicomic, which is simultaneously projected onto Chekhov’s theatre and Maria José’s profile, are favourable lines of reading for this rapprochement between Pessoa and the Russian fiction writer and playwright. Pessoa’s readings of Chekhov’s texts (such as the play Uncle Vania and the short story “Vanka”) provide relevant data for assessing the magnitude of this encounter.“A Carta da Corcunda para o Serralheiro”, assinada por Maria José, começou por ser difundida num espectáculo de teatro em 1988 (pela actriz-encenadora Maria do Céu Guerra) dois anos antes de o dactiloscrito se ver publicado em livro, pela primeira vez, por Teresa Rita Lopes. Parte-se da evidência de ter sido o teatro a revelar a destinação dramática da epístola singular do único heterónimo mulher que Fernando Pessoa inventou, que terá sido também o último a ser criado pelo autor. A construção dramática de Maria José pode ser aproximada às estratégias de construção de personagem na dramaturgia realista de Anton Tchekov, de um modo que se distingue de outras experiências dramatúrgicas de Pessoa. A análise do ascendente de Tchekov sobre as pesquisas de Stanislavski, bem como a importância da concepção de tragicómico em Schopenhauer, que se projecta em simultâneo sobre o teatro de Tchekov e sobre o perfil de Maria José, são linhas de leitura propícias para esta aproximação entre Pessoa e o ficcionista e dramaturgo russo. As leituras de textos de Tchekov por parte de Pessoa (como o caso da peça Tio Vânia e o conto “Vanka”) fornecem dados relevantes para avaliar a magnitude deste encontro
MID1 Mutation Screening in a Large Cohort of Opitz G/BBB Syndrome Patients: Twenty-nine Novel Mutations Identified
No full textOpitz G/BBB Syndrome (OS) is a multiple congenital anomaly disorder characterized by defects along the body midline. The disease is characterized by variable expressivity of signs that include hypertelorism, cleft lip and/or palate, laryngo-tracheo-esophageal abnormalities, cardiac defects, and hypospadias. OS patients also present with mental retardation and brain anatomical abnormalities. An autosomal dominant form mapping to chromosome 22 and an X-linked form of OS are known. The gene responsible for the X-linked form of OS, MID1, codes for a member of the Tripartite Motif family of E3 ubiquitin ligases. Here we report 29 novel mutations in 29 unrelated patients of a cohort of 140 male OS cases. These mutations are found in both familial and sporadic cases. They are scattered along the entire length of the gene and are represented by missense and nonsense mutations, insertions and deletions causing frame shift mutations, and deletion of either single exons or the entire gene. The variety of the mutations found confirms that loss-of-function is the mechanism underlying the OS phenotype. Moreover, the low percentage of MID1-mutated OS patients, 47% of the familial and 13% of the sporadic cases, suggests a wider genetic heterogeneity underlying the OS phenotype
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