238 research outputs found
A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor
No full textHLA-C*04:01:106 differs from C*04:01:01:01 by a silent nucleotide substitution in exon 4
Palmoplantar Keratoderma, Pseudo-Ainhum, and Universal Atrichia: A New Patient and Review of the Palmoplantar Keratoderma-Congenital Alopecia Syndrome
No full textPalmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Nonspecific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanovic type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion. (C) 2010 Wiley-Liss, Inc
Patrimonio culturale come risorsa per lo sviluppo locale. Processi di valorizzazione e ruolo del marketing
No full textIn this chapter of the volume “La valorizzazione del patrimonio di prossimità tra fragilità e sviluppo locale”, the author deals with the problem of cultural heritage enhancement as a strategic asset for local sustainable development both from a social and an economic perspective.
The chapter may be divided into two parts: in the first, after a review of the different approaches adopted by scholars and international organizations (i.e. Unesco) in defining the concept of cultural heritage, the author points out the most important features of cultural heritage as an economic asset, highlighting how the characteristics of local cultural heritage, i.e. the mix of tangible and intangible resources, may shape social capital and guide the development of the community as a whole.
In the second part, the role of territorial marketing policies for local development are explored, focusing on the most important issues for their successful implementation: the role of meta-organizations; and the involvement of local stakeholders amongst which, first of all, the local community
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
No full textArterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder, mainly characterized by tortuosity and elongation of the large- and medium-sized arteries with predisposition to stenoses and aneurysms. ATS is caused by mutations in the SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10) and is described typically in pediatric patients. We report on a 51-year-old woman, originally ascertained because of unexplained widespread chronic pain and positive family history of aortic malformation. The main findings included aged appearance, congenital joint hypermobility, joint instability complications, chronic fatigue syndrome, progressive painful joint stiffness, abdominal hernias, pelvic prolapses, multiple cardiac valve prolapses, varicose veins, easy bruising, and gingival recession. Vascular imaging revealed kinking and anomalous origin of the aortic arch branches, marked tortuosity of the aorta, pulmonary and most middle arteries, and a small aneurysm of the splenic artery. SLC2A10 analysis disclosed homozygosity for the novel c.1411+1G>A splice mutation, leading to a 41 amino acids GLUT10 internal deletion. Expression study by immunofluorescence using healthy control cells showed lack of membrane internalization of GLUT10 in patient's skin fibroblasts. This report describes the first splice-site SLC2A10 mutation and increases to 19 the repertoire of known mutations in this gene. Comparison with the few previously published adult patients with ATS contributes to the natural history of this condition, which is probably under diagnosed within the expanding family of inherited connective tissue disorders. (c) 2012 Wiley Periodicals, Inc
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
No full textBackground: Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in RBM8A, mapping in the deleted segment. At the moment, the complete molecular characterization of thrombocytopenia-absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age. Case presentation. We report on a fetus with bilateral upper limb deficiency found at standard prenatal ultrasound examination. The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia-absent radius syndrome. Molecular studies demonstrated compound heterozygosity for the 1q21.1 microdeletion and the RBM8A rs139428292 variant at the hemizygous state, inherited from the mother and father, respectively. Conclusion: The molecular information allowed prenatal diagnosis in the following pregnancy resulting in the birth of a healthy carrier female. A review was carried out with the attempt to the trace the fetal ultrasound presentation of thrombocytopenia-absent radius syndrome and discussing opportunities for second-tier molecular studies within a multidisciplinary setting. © 2013 Bottillo et al.; licensee BioMed Central Ltd
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome.
No full textContemporary Chinese Science Fiction: Preliminary Reflections on the Translation of a Genre
No full textThis paper deals with the rise of a new wave of Chinese science fiction over the last decades, attempting to draw a parallel to Twentieth-Century American science fiction. The author explores the many similarities (as well as some differences) between these two phenomena, relying on both translation studies and genre studies. Drawing on a definition of genre as a “recurring response to recurring situations” (Miller), the author briefly examines historical, social, and literary conditions of the two countries, providing examples of the agents, the works, and the reasons that allow us to describe this process as a form of “inter-generic translation”. This study aims at providing an overview of the present discourse on Chinese science fiction in relation to the American experience, highlighting the potential for further and deeper developments of this kind of analysis
The semantics of conflict: the system of power and solidarity in official statements during the Gulf War
No full textIl saggio intende aprire uno spiraglio sull’interazione dialettica tra i due principali contesti socioculturali in esame e le rispettive strategie di costruzione del consenso e gestione del conflitto, da un lato, e di rappresentazione dei suoi partecipanti, dall’altro. Nel ripercorrere le fasi fondamentali della Guerra del Golfo attraverso le dichiarazioni ufficiali dei leader e dei rappresentanti internazionali delle principali parti in causa — dichiarazioni che vengono analizzate alla luce degli spunti offerti dalla critical linguistics e dall’analisi grammatico-funzionale di matrice sociosemiotica —, il saggio si propone di individuare analogie e differenze tra i concetti di “potere” e le forme di esercizio del potere (ivi comprese le strategie di face-saving e face-threatening) nei due rispettivi contesti. Emergono, tra l’altro, visioni per molti versi antitetiche della funzione della lingua, come strumento privilegiato attraverso cui ‘costruire’ razionalmente il reale o, invece, trascenderlo. Il concetto di “solidarietà” viene esaminato nei suoi rapporti con il concetto di “potere”, nonché indagato in funzione dei processi di “democratization of discourse” e “synthetic personalization”, così come definiti da Norman Fairclough
Another type of “old tales retold”. Translation and self-translation, intertextuality and self-intertextuality in Zhang Ailing’s works
No full textThis papers deals with Zhang Ailing’s (1920-1995) posthumous novel, Xiao tuanyuan 小团圆 (Little reunions), written in the 70s of last century but completed just before her death, and finally published only in 2009, which is an example of the continuous manipulation of the same narrative materials used in previous works, and re-presented here through a politics of self-translation and self-intertextuality.
In translating this novel one is confronted with a complex “mosaic of quotations” as Kristeva says, and self-quotations, and is dragged into a forest of meanings derived from the juxtaposition of a variety of external “voices” that mix up with the internal voice of the author. This Bachtinian or babelian quality of the novel, in other words its pluri- and interdiscursivity, challenges the translator, who is called not only to reconstruct the original sources of the allusions, but is also caught between the need of disambiguation and the respect of the intertextual connections implied by the text, he/she has also to cope with the deliberate narrative fragmentation adopted by Zhang
Laicità e servizi pubblici. Il caso della sanità
No full textThe essay analyzes the implementation of the principle of secularism in the national health system, focusing on three themes: religious assistance services provided in health facilities, the issue of male ritual circumcisions and the conscientious objection for healthcare professionals. The analysis carried out by the author shows that to identify how the health administration must respond to the needs for the protection of freedom of conscience and religion, which emerge in contemporary society, it is necessary to relate the principle of secularism with the other fundamental principles of public services
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