Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires

Bovine congenital pseudomyotonia (PMT) is a genetic disease in Chianina and other breeds of cattle that induces muscular stiffness. PMT in the Chianina breed is caused by a missense mutation in exon 6 of the ATP2A1 gene, which encodes the SERCA1 pump. In this study, the prevalence of PMT carriers and the frequency of the deleterious PMT allele in selected subpopulations of the Chianina breed were estimated. The prevalence of PMT carriers among ranked Chianina sires used for artificial insemination in the years 2007-2011 was 13.6%. The frequency of PMT carriers in young bull calves born in the period January 2007 to June 2011 selected for a performance testing programme was 13.4%. Selective breeding against this genetic defect is restricted to males only and therefore is predicted to require at least seven generations to eradicate PMT.

Linkage in narratives: A comparison between monolingual speakers of French and Italian, and early and late French-Italian bilinguals

In the course of language acquisition learners have to deal with the task of producing narrative texts that are coherent across a range of conceptual domains (space, time, entities) -- both within as well as across utterances. The organization of information is analyzed in this study, on the basis of retellings of a silent film, in terms of devices used in the coordination and subordination of events within the narrative sequence. The focus on subordination reflects a core grammatical difference between Italian and French, as Italian is a null-subject language while French is not. The implications of this contrast for information structure include differences in topic management within the sequence of events. The present study investigates in how far Italian-French bilingual speakers acquire the patterns of monolingual speakers of Italian. It compares how early and late bilinguals of these two languages proceed when linking information in narratives in Italian.

Gender-fair Language Changes the Social Perception of Professional Groups: The Case of German and Italian.

Gender-fair language, including women and men, such as word pairs has a substantial impact on the mental representation, as a large body of studies have shown. When using exclusively the masculine form as a generic, women are mentally significantly less represented than men. Word pairs, however, lead to a higher cognitive inclusion of women. Surprisingly little research has been conducted to understand how the perception of professional groups is affected by gender-fair language. Providing evidence from an Italian-Austrian cross-cultural study with over 400 participants, we argue that gender-fair language impacts the perception of professional groups, in terms of perceived gender-typicality, number of women and men assumed for a profession, social status and average income. Results hint at a pervasive pay-off: on the one hand, gender-fair language seems to boost the mental representations in favor of women and professions are perceived as being rather gender-neutral. On the other hand professional groups are assigned lower salary and social status with word pairs. Implications of results are discussed.

Norms on the gender perception of role nouns in Czech, English, French, German, Italian, Norwegian, and Slovak

We collected norms on the gender stereotypicality of an extensive list of role nouns in Czech, English, French, German, Italian, Norwegian, and Slovak, to be used as a basis for the selection of stimulus materials in future studies. We present a Web-based tool (available at https://www.unifr.ch/lcg/) that we developed to collect these norms and that we expect to be useful for other researchers, as well. In essence, we provide (a) gender stereotypicality norms across a number of languages and (b) a tool to facilitate cross-language as well as cross-cultural comparisons when researchers are interested in the investigation of the impact of stereotypicality on the processing of role nouns.

Dermatology in the immunosuppressed patient

This anniversary book gives an animated description of the first one hundred years of the Swiss Society of Dermatology and Venereology (SSDV – SGDV). The approximately 60 authors write from the subjective perspective of the contemporary witness and thus create a vibrant picture of their field and the times in which we live. “Spirit and Soul of Swiss Dermatology and Venereology 1913 – 2013” is therefore an ideal companion to the medical history book “Dermatologie und Venerologie in der Schweiz – ein historischer Rückblick” (2002 Editions Alphil, ISBN 2-940235-08-2), published in 2003 by the SSDV – SGDV for its 90th anniversary. The anniversary edition for the centennial is written in English in order to make the history of the SSDV – SGDV accessible to a larger international public. The introductory chapter is written in all four national languages (German, French, Italian, and Romansh) and also translated into English. It is followed by chapters about the university and non-university public dermatology and venereology departments, the memoirs of those presidents still living, and the depiction of the numerous sub-disciplines of dermatology. Further important chapters include a large contribution on the beginnings of dermatological research in Switzerland, a series of pieces on medical education and continuing education, and finally an overview of healthcare politics in Switzerland. Our friends in Germany, Austria, France, Italy and the USA have provided the outside perspective on Swiss dermatology and venereology in their essays. All in all an informative and entertaining overview of a very diverse medical specialty has been created, which combines historical facts with dynamic insights into this topical field and the current political healthcare framework.

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.

The effects of anti-infective preventive measures on the occurrence of biologic implant complications and implant loss: a systematic review.

PURPOSE To systematically appraise whether anti-infective protocols are effective in preventing biologic implant complications and implant loss after a mean observation period ≥ 10 years after loading. MATERIALS AND METHODS An electronic search of Medline via PubMed and Embase via Ovid databases complemented by manual search was conducted up to October 31, 2012. Studies were included provided that they were published in English, German, French, or Italian, and conducted on ≥ 20 partially and fully edentulous patients with dental implants and regular (≥ 1×/year) supportive periodontal therapy (SPT) over a mean observation period ≥ 10 years. Assessment of the identified studies and data extraction were performed independently by two reviewers. Authors were contacted if required. Collected data were reported by descriptive methods. RESULTS The initial electronic search resulted in the identification of 994 titles from Medline via PubMed and 531 titles from Embase via Ovid databases, respectively. After elimination of duplicate titles and exclusion of 60 full-text articles, 143 articles were analyzed, resulting in 15 studies eligible for qualitative analysis. The implant survival rate ranged from 85.7% to 99.2% after a mean observation period ≥ 10 years. One comparative study assessed the effects of regular SPT on the occurrence of biologic complications and implant loss. Overall, regular diagnosis and implementation of anti-infective therapeutic protocols were effective in the management of biological complications and prevention of implant loss. Residual probing depths at the end of active periodontal therapy and development of reinfection during supportive periodontal therapy (SPT) represented a significant risk for the onset of peri-implantitis and implant loss. Comparative studies indicated that implant survival and success rates were lower in periodontally compromised vs noncompromised patients. CONCLUSIONS In order to achieve high long-term survival and success rates of dental implants and their restorations, enrollment in regular SPT including anti-infective preventive measures should be implemented. Therapy of peri-implant mucositis should be considered as a preventive measure for the onset of peri-implantitis. Completion of active periodontal therapy should precede implant placement in periodontally compromised patients.

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.