A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age

BACKGROUND: Mutations in the chloride channel gene, CLCNKB, usually cause classic Bartter syndrome (cBS) or a mixed Bartter-Gitelman phenotype in the first years of life. METHODS: We report an adult woman with atypical BS caused by a homozygous missense mutation, A204T, in the CLCNKB gene, which has previously been described as the apparently unique cause of cBS in Spain. RESULTS: The evaluation of this patient revealed an overlap of phenotypic features ranging from severe biochemical and systemic disturbances typical of cBS to scarce symptoms and diagnosis in the adult age typical of Gitelman syndrome. The tubular disease caused a dramatic effect on mental, growth and puberal development leading to low IQ, final short stature and abnormal ovarian function. Furthermore, low serum PTH concentrations with concomitant nephrocalcinosis and normocalcaemia were observed. Both ovarian function and serum PTH levels were normalized after treatment with cyclooxygenase inhibitors. CONCLUSIONS: The present report confirms a weak genotype-phenotype correlation in patients with CLCNKB mutations and supports the founder effect of the A204T mutation in Spain. In our country, the genetic diagnosis of adult patients with hereditary hypokalaemic tubulopathies should include a screening of A204T mutation in the CLCNKB gene.

Cosmos and Colonialism. Alexander von Humboldt in Cultural Criticism

Alexander von Humboldt explored the Spanish Empire on the verge of its collapse (1799–1804). He is the most significant German travel writer and the most important mediator between Europe and the Americas of the nineteenth century. His works integrated knowledge from two dozen domains. Today, he is at the center of debates on imperial discourse, postcolonialism, and globalization. This collection of fifty essays brings together a range of responses, many presented here for the first time in English. Authors from Schiller, Chateaubriand, Sarmiento, and Nietzsche, to Robert Musil, Kurt Tucholsky, Ernst Bloch, and Alejo Carpentier paint the historical background. Essays by contemporary travel writers and recent critics outline the current controversies on Humboldt. The source materials collected here will be indispensable to scholars of German, French, and Latin and North American literature as well as cultural and postcolonial studies, history, art history, and the history of science.

Multimodal viral communication: a social semiotic analysis of the popular Spanish "Ola ke ase" meme

Multimodality – the interdependence of semiotic resources in text – is an existential element of today’s media. The term multimodality attends systematically to the social interpretation of a wide range of communicational forms used in meaning making. A primary focus of social- semiotic multimodal analysis is on mapping how modal resources are used by people in a given social context. In November 2012 the “Ola ke ase” catchphrase, which is a play on “Hola ¿qué hace?”, appeared for the first time in Spain and immediately has been adopted as a Twitter hashtag and an image macro series. Its viral spread on social networks has been tremendous, being a trending topic in various Spanish-speaking countries. The objective of analysis is how language and image work together in the “Ola ke ase” meme. The interplay between text and image in one of the original memes and some of its variations is quantitatively analysed applying a social-semiotic approach. Results demonstrate how the “Ola ke ase” meme functions through its multimodal character and the non-standard orthography. The spread of uncountable variations of the meme shows the social process that goes on in the meaning making of the semiotic elements.

The Spanish variety of Malaga: From real to mental to virtual speech

Internet has affected our lives and society in manifold ways, and partly, in fundamental ways. Therefore, it is no surprise that one of the affected areas is language and communication itself. Over the last few years, online social networks have become a widespread and continuously expanding medium of communication. Being a new medium of social interaction, online social networks produce their own communication style, which in many cases differs considerably from real speech and is also perceived differently. The focus of analysis of my PhD thesis is how social network users from the city of Malaga create this virtual style by means of phonic features typical of the Andalusian variety of Spanish and how the users’ language attitude has an influence on the use of these phonic features. The data collection was fourfold: 1) a main corpus was compiled from 240 informants’ utterances on Facebook and Tuenti; 2) a corpus constituted of broad transcriptions of recordings with 120 people from Malaga served as a comparison; 3) a survey in which 240 participants rated the use of said phonetic variants on the following axes: “good–bad”, “correct–incorrect” and “beautiful–ugly” was carried out; 4) a survey with 240 participants who estimated with which frequency the analysed features are used in Malaga was conducted. For the analysis, which is quantitative and qualitative, ten variables were chosen. Results show that the studied variants are employed differently in virtual and real speech depending on how people perceive these variants. In addition, the use of the features is constrained by social factors. In general, people from Malaga have a more positive attitude towards non-­‐standard features if they are used in virtual speech than in real speech. Thus, virtual communication is seen as a style serving to create social meaning and to express linguistic identity. These stylistic practices reflect an amalgam of social presuppositions about usage conventions and individual strategies for handling a new medium. In sum, the virtual style is an initiative deliberately taken by the users, to create their, real and virtual, identities, and to define their language attitudes towards the features of their variety of speech.