The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.

Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle.

The term 'paunch calf syndrome' encompasses the multi-organic lethal developmental dysplasia reported in the Romagnola breed of cattle and is characterised by facial deformities, an enlarged and floating abdomen containing considerable abdominal effusion, and hepatic fibrosis. Paunch calf syndrome is caused by a missense mutation in the KDM2B gene (c.2503G>A) that is thought to lead to an amino acid exchange (p.D835N). In this study, the prevalence of carriers of the mutant KDM2B allele (and thus the frequency of the allele) was assessed in selected subpopulations of Romagnola cattle. The prevalence of carriers within top-ranked Romagnola sires over the years 2007-2012 was 29.3% (allele frequency 14.6%). In young bull calves, 30.9% were carriers with an allele frequency of 15.4%.

“Jo wunderbar so im apriu kann man nicht mehr erwarten, capisci?” Multilingualism in a German language class for retired Italian migrants in Berne

Our proposal presents some aspects and results of a project of the University of Bern dealing with the consequences of retirement on multilingual competences. Referring to De Bot (2007), who defined "language related major life events" as moments in life relevant for changes in multilingual competences, we assume that retirement can be a turning point in a language biography. Firstly, there are phenomena, such as the cessation of the use of a foreign language, which was formerly related to work. Secondly, retirement might elicit the improvement of foreign language skills as a way to spend excess time after retirement or as a “cognitive exercise”. Many language schools have identified the people of advanced age as a group of major interest and increasingly offer so-called 50+ (fifty plus) courses in their curriculum. Furthermore, the concept of lifelong learning is increasingly gaining importance, as the reference by the European commission (LLP) indicates. However, most of the programs are intended for educated middle-class people and there are considerably fewer offers for people who are less familiar with learning environments in general. The present paper aims at investigating the multilingual setting of an offer of the second kind: a German language course designed for retired, established Italian workforce migrants living in the city of Berne, Switzerland. The multilingual setting is given by the facts that migrants living in Berne are confronted with diglossia (Standard German and Swissgerman dialects), that the Canton of Berne is bilingual (German and French) and that the migrants' mother tongue, Italian, is one of the Swiss national languages. As previous studies have shown, most of the Italian migrants have difficulties with the acquisition of Standard German due to the diglossic situation (Werlen, 2007) or never even learnt any of the German varieties. Another outcome of the linguistic situation the migrants are confronted with in Berne, is the usage of a continuum of varieties between Swissgerman dialect and Standard German (Zanovello-Müller, 1998). Therefore, in the classroom we find several varieties of German, as well as the Italian language and its varieties. In the present paper we will investigate the use of multilingual competences within the classroom and the dynamics of second language acquisition in a setting of older adults (>60 years old), learning their host country’s language after 40 years or more of living in it. The methods applied are an ethnographic observation of the language class, combined with qualitative interviews to gain in-depth information of the subjects’ life stories and language biographies.

Italian Hebrew Literature

by Sabato Morais. Ed. by Julius H. Greenstone. With a foreword by Henry Morais

Efficiency of frost-cracking processes through space and time: An example from the eastern Italian Alps

It is widely accepted that climate has a strong impact and exerts important feedbacks on erosional processes and sediment transport mechanisms. However, the extent at which climate influences erosion is still a matter of debate. In this paper we test whether frost-cracking processes and related temperature variations can influence the sediment production and surface erosion in a small catchment situated in the eastern Italian Alps. To this extent, we first present a geomorphic map of the region that we complement with published 10Be-based denudation rates. We then apply a preexisting heat-flow model in order to analyze the variations of the frost-cracking intensity (FCI) in the study area, which could have controlled the sediment production in the basin. Finally, we compare the model results with the pattern of denudation rates and Quaternary deposits in the geomorphic map. The model results, combined with field observations, mapping, and quantitative geomorphic analyses, reveal that frost-cracking processes have had a primary role in the production of sediment where the intensity of sediment supply has been dictated and limited by the combined effect of temperature variations and conditions of bedrock preservation. These results highlight the importance of a yet poorly understood process for the production of sediment in mountain areas.

Geological map of the Scalaro Valley – Sesia Zone (Italian Western Alps)

In the Sesia Zone (Italian Western Alps), slivers of continental crust characterised by an Alpine high-pressure imprint are intermingled with abundant mafic rocks and Mesozoic metasediments. An extensive study of the central Sesia Zone was undertaken to identify and reconstruct the lithological setting of the mono-cyclic sediments of the Scalaro Unit. A new geological map (1:5000) and schematic cross sections across the Scalaro Unit and the adjoining Eclogitic Micaschist Complex are presented here. In order to delimit the size and shape of the mono-metamorphic unit and understand its internal geometry with respect to the poly-metamorphic basement, an integrated approach was used. Linking observations and data across a range of scales, from kilometres in the field down to petrological and chronological data obtained at micrometre scale, we define for the first time the real size and internal geometry of the Scalaro Unit, as well as its large-scale structural context.

Otium et negotium. Reading processes and their cultural backgrounds in early Italian and German humanism

Reading and reading habits have radically changed in the digital age. Readers are no longer physically bound to textual objects and libraries, they deal with texts by copying, altering, and annotating them, and they mix established textual forms with other semiotic systems such as pictograms, icons and images. These circumstances also provoke a renewed research interest in the history of reading. In this talk, I will concentrate on reading processes as to how they were enacted and practised in early Italian and German humanism. I will start with some paradigmatic scenes described in Petrarch’s letters (among others the famous visit of the Mont Ventoux, where Petrarch, after having enjoyed a spectacular panorama, withdraws into the contemplative reading of St-Augustine). The transmission of Petrarch’s writings in humanist circles of Southern Germany (e.g. with the Schedel and Gossembrot families in Nurnberg, Augsburg and Strasburg) will then lead to specific reading practices documented in manuscripts that once belonged to coherent libraries and are nowadays spread all over Europe. In the case of the former tradesman and mayor Sigismund Gossembrot, complex habits of textual annotating and cross-referencing can be observed. The dichotomy of the Latin terms otium (‘rest’ and ‘leisure’) and negotium (‘activity’, but also ‘practice’, ‘negotiation’, ‘circulation of social energy’ in the sense of New Historicism) will be used as an ideal-type outline to describe the occurring processes of reading.

Otium et negotium. Reading processes and their cultural backgrounds in early Italian and German humanism

Reading and reading habits have radically changed in the digital age. Readers are no longer physically bound to textual objects and libraries, they deal with texts by copying, altering, and annotating them, and they mix established textual forms with other semiotic systems such as pictograms, icons and images. These circumstances also provoke a renewed research interest in the history of reading. In this talk, I will concentrate on reading processes as to how they were enacted and practised in early Italian and German humanism. I will start with some paradigmatic scenes described in Petrarch’s letters (among others the famous visit of the Mont Ventoux, where Petrarch, after having enjoyed a spectacular panorama, withdraws into the contemplative reading of St-Augustine). The transmission of Petrarch’s writings in humanist circles of Southern Germany (e.g. with the Schedel and Gossembrot families in Nurnberg, Augsburg and Strasburg) will then lead to specific reading practices documented in manuscripts that once belonged to coherent libraries and are nowadays spread all over Europe. In the case of the former tradesman and mayor Sigismund Gossembrot, complex habits of textual annotating and cross-referencing can be observed. The dichotomy of the Latin terms otium (‘rest’ and ‘leisure’) and negotium (‘activity’, but also ‘practice’, ‘negotiation’, ‘circulation of social energy’ in the sense of New Historicism) will be used as an ideal-type outline to describe the occurring processes of reading.