Los lenguajes controlados y la documentación técnica : mejorando la traducibilidad

Los lenguajes controlados pueden suponer una estrategia efectiva para mejorar los procesos de traducción, modificando el texto origen para que se adapte a una serie de reglas que mejoran su traducibilidad. El artículo analiza el concepto de lenguaje controlado y revisa las diferentes áreas de control y su tipología, para después realizar un breve repaso al origen y evolución de estos si stemas lingüísticos. A continuación explora qué papel representan los lenguajes controlados en el proceso de redacción y traducción de documentación técnica. Por último, se centra en la relación entre lenguajes controlados y traducción y, más en concreto, la traducción automática, haciendo especial hincapié en las reglas más efectivas para la mejora de la traducibilidad.Els llenguatges controlats poden suposar una estratègia efectiva per a millorar els processos de traducció, modificant el text origen perquè s'adapte a una sèrie de regles que milloren la seua traduïbilitat. L'article analitza el concepte de llenguatge controlat i revisa les diferents àrees de control i la seua tipologia, per a després realitzar un breu repàs a l'origen i evolució d'estos sistemes lingüístics. A continuació explora quin paper representen els llenguatges controlats en el procés de redacció i traducció de documentació tècnica. Finalment, es centra en la relació entre llenguatges controlats i traducció i, més concretament, traducció autom àtica, fent especial insistència en les regles més efectives per a la millora de la traduïbilitat.Controlled languages can be an effective strategy to improve translation processes, pre-editing the source text to conform to a set of rules to improve its translatability. This article analyses the concept of controlled language and reviews the different control areas and their typology. Further, it reviews the origin and evolution of these linguistic systems and explores the role controlled languages play in the process of writing and translating technical documentation. Finally, it focuses on the relationship between controlled language and translation and, more specifically, machine translation, with particular emphasis on the rules aimed at improving translatability

Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom

BACKGROUND AND OBJECTIVES: Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Prevalent patients were studied from 2012 to 2014 in the northeast and southwest of the United Kingdom. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 combining Sanger sequencing and multiplex ligation probe–dependent amplification was performed. RESULTS: In total, 76 patients (42 men and 34 women) were studied. All subjects had proven cystine stones. Median age of presentation (first stone episode) was 24 years old, but 21% of patients presented after 40 years old. Patients had varied clinical courses, with 37% of patients having ≥10 stone episodes; 70% had evidence of CKD, and 9% had reached ESRD as a result of cystinuria and its complications. Patients with cystinuria received a variety of different therapies, with no obvious treatment consensus. Notably, 20% of patients had staghorn calculi, with associated impaired renal function in 80% of these patients. Genetic analysis revealed that biallelic mutations were present in either SLC3A1 (n=27) or SLC7A9 (n=20); 22 patients had only one mutated allele detected (SLC3A1 in five patients and SLC7A9 in 17 patients). In total, 37 different mutant variant alleles were identified, including 12 novel mutations; 22% of mutations were caused by large gene rearrangements. No genotype-phenotype association was detected in this cohort. CONCLUSIONS: Patients with cystinuria in the United Kingdom often present atypically with staghorn calculi at ≥40 years old and commonly develop significant renal impairment. There is no association of clinical course with genotype. Treatments directed toward reducing stone burden need to be rationalized and developed to optimize patient care