Entonación en el discurso y la fonología sistémico funcional

This paper is a reflection on praxis which addresses the phonological stratum as an integral part of the language system. As EFL teacher trainers, we often find that students isolate the different meaning-creating components of language as a natural result of the way courses are organized at university level. It is in the spirit of helping students integrate the various aspects of language and context that we have set out to compare David Brazil, Malcolm Coulthard and Catherine Johns’s Discourse Intonation model –which we have been working with for more than ten years– with the intonation approach in Systemic Functional Linguistics, by M.A.K. Halliday and William Greaves. We observe the theoretical similarities between the two approaches in order to see how they may supplement one another. Then, we analyse a conversation taken from a film following both theoretical approaches, and draw conclusions in the light of the comparison. Our preliminary results show that the two approaches explain the meanings conveyed with reference to different meaning-making resources. Brazil et al. explain the meanings at risk in the interaction according to the phonological systems they describe (prominence, tone, key and termination). Halliday and Greaves do so by referring to the phonological and lexico-grammatical strata in combination.Este trabajo es una reflexión sobre la práctica que estudia el estrato fonológico como parte integral del sistema de la lengua. Como docentes de Profesorado de Inglés como lengua extranjera, a menudo observamos que los estudiantes tienden a aislar los diferentes elementos lingüísticos que componen el significado de la lengua como consecuencia natural del modo en el que se segmentan los contenidos en los cursos universitarios. Con el objetivo de contribuir a que los estudiantes integren los distintos aspectos del lenguaje y el contexto, nos abocamos a la comparación de los sistemas fonológicos propuestos por David Brazil, Malcolm Coulthard y Catherine Johns –que hemos seguido en los últimos años– y por M.A.K. Halliday y William Greaves. Exploramos las similitudes teóricas de los dos enfoques para evaluar sus contribuciones en vistas a una visión más integrada de la fonología. Por lo tanto, analizamos una conversación tomada de una película según ambos enfoques y llegamos a conclusiones a la luz de la comparación. Nuestros resultados preliminares muestran que ambos enfoques explican los significados transmitidos con referencia a distintos recursos de sentido. Brazil et al. explican los significados en juego en la interacción según los sistemas fonológicos que ellos describen (prominence, tone, key y termination). Halliday y Greaves lo hacen con referencia a una combinación entre los estratos fonológico y léxico-gramatical

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago

Background: Literature suggests colonic resection and primary anastomosis (RPA) instead of Hartmann's procedure (HP) for the treatment of left-sided colonic emergencies. We aim to evaluate the surgical options globally used to treat patients with acute left-sided colonic emergencies and the factors that leading to the choice of treatment, comparing HP and RPA. Methods: This is a prospective, international, multicenter, observational study registered on ClinicalTrials.gov. A total 1215 patients with left-sided colonic emergencies who required surgery were included from 204 centers during the period of March 1, 2020, to May 31, 2020. with a 1-year follow-up. Results: 564 patients (43.1%) were females. The mean age was 65.9 ± 15.6 years. HP was performed in 697 (57.3%) patients and RPA in 384 (31.6%) cases. Complicated acute diverticulitis was the most common cause of left-sided colonic emergencies (40.2%), followed by colorectal malignancy (36.6%). Severe complications (Clavien-Dindo ≥ 3b) were higher in the HP group (P < 0.001). 30-day mortality was higher in HP patients (13.7%), especially in case of bowel perforation and diffused peritonitis. 1-year follow-up showed no differences on ostomy reversal rate between HP and RPA. (P = 0.127). A backward likelihood logistic regression model showed that RPA was preferred in younger patients, having low ASA score (≤ 3), in case of large bowel obstruction, absence of colonic ischemia, longer time from admission to surgery, operating early at the day working hours, by a surgeon who performed more than 50 colorectal resections. Conclusions: After 100 years since the first Hartmann's procedure, HP remains the most common treatment for left-sided colorectal emergencies. Treatment's choice depends on patient characteristics, the time of surgery and the experience of the surgeon. RPA should be considered as the gold standard for surgery, with HP being an exception

Colorectal Cancer Stage at Diagnosis Before vs During the COVID-19 Pandemic in Italy

IMPORTANCE Delays in screening programs and the reluctance of patients to seek medical attention because of the outbreak of SARS-CoV-2 could be associated with the risk of more advanced colorectal cancers at diagnosis. OBJECTIVE To evaluate whether the SARS-CoV-2 pandemic was associated with more advanced oncologic stage and change in clinical presentation for patients with colorectal cancer. DESIGN, SETTING, AND PARTICIPANTS This retrospective, multicenter cohort study included all 17 938 adult patients who underwent surgery for colorectal cancer from March 1, 2020, to December 31, 2021 (pandemic period), and from January 1, 2018, to February 29, 2020 (prepandemic period), in 81 participating centers in Italy, including tertiary centers and community hospitals. Follow-up was 30 days from surgery. EXPOSURES Any type of surgical procedure for colorectal cancer, including explorative surgery, palliative procedures, and atypical or segmental resections. MAIN OUTCOMES AND MEASURES The primary outcome was advanced stage of colorectal cancer at diagnosis. Secondary outcomes were distant metastasis, T4 stage, aggressive biology (defined as cancer with at least 1 of the following characteristics: signet ring cells, mucinous tumor, budding, lymphovascular invasion, perineural invasion, and lymphangitis), stenotic lesion, emergency surgery, and palliative surgery. The independent association between the pandemic period and the outcomes was assessed using multivariate random-effects logistic regression, with hospital as the cluster variable. RESULTS A total of 17 938 patients (10 007 men [55.8%]; mean [SD] age, 70.6 [12.2] years) underwent surgery for colorectal cancer: 7796 (43.5%) during the pandemic period and 10 142 (56.5%) during the prepandemic period. Logistic regression indicated that the pandemic period was significantly associated with an increased rate of advanced-stage colorectal cancer (odds ratio [OR], 1.07; 95%CI, 1.01-1.13; P = .03), aggressive biology (OR, 1.32; 95%CI, 1.15-1.53; P < .001), and stenotic lesions (OR, 1.15; 95%CI, 1.01-1.31; P = .03). CONCLUSIONS AND RELEVANCE This cohort study suggests a significant association between the SARS-CoV-2 pandemic and the risk of a more advanced oncologic stage at diagnosis among patients undergoing surgery for colorectal cancer and might indicate a potential reduction of survival for these patients

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Abstract The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.Peer reviewe

La renovación de la palabra en el bicentenario de la Argentina : los colores de la mirada lingüística

El libro reúne trabajos en los que se exponen resultados de investigaciones presentadas por investigadores de Argentina, Chile, Brasil, España, Italia y Alemania en el XII Congreso de la Sociedad Argentina de Lingüística (SAL), Bicentenario: la renovación de la palabra, realizado en Mendoza, Argentina, entre el 6 y el 9 de abril de 2010. Las temáticas abordadas en los 167 capítulos muestran las grandes líneas de investigación que se desarrollan fundamentalmente en nuestro país, pero también en los otros países mencionados arriba, y señalan además las áreas que recién se inician, con poca tradición en nuestro país y que deberían fomentarse. Los trabajos aquí publicados se enmarcan dentro de las siguientes disciplinas y/o campos de investigación: Fonología, Sintaxis, Semántica y Pragmática, Lingüística Cognitiva, Análisis del Discurso, Psicolingüística, Adquisición de la Lengua, Sociolingüística y Dialectología, Didáctica de la lengua, Lingüística Aplicada, Lingüística Computacional, Historia de la Lengua y la Lingüística, Lenguas Aborígenes, Filosofía del Lenguaje, Lexicología y Terminología

Discourse Intonation and Systemic Functional Phonology

This paper is a reflection on praxis which addresses the phonological stratum as an integral part of the language system. As EFL teachertrainers, we often find that students isolate the different meaning-creating components of language as a natural result of the way courses areorganized at university level. It is in the spirit of helping students integrate the various aspects of language and context that we have set outto compare David Brazil, Malcolm Coulthard and Catherine Johns’s Discourse Intonation model –which we have been working with for morethan ten years– with the intonation approach in Systemic Functional Linguistics, by M.A.K. Halliday and William Greaves. We observe thetheoretical similarities between the two approaches in order to see how they may supplement one another. Then, we analyse a conversationtaken from a film following both theoretical approaches, and draw conclusions in the light of the comparison. Our preliminary results show thatthe two approaches explain the meanings conveyed with reference to different meaning-making resources. Brazil et al. explain the meaningsat risk in the interaction according to the phonological systems they describe (prominence, tone, key and termination). Halliday and Greavesdo so by referring to the phonological and lexico-grammatical strata in combination

Discourse Intonation and Systemic Functional Phonology

This paper is a reflection on praxis which addresses the phonological stratum as an integral part of the language system. As EFL teachertrainers, we often find that students isolate the different meaning-creating components of language as a natural result of the way courses areorganized at university level. It is in the spirit of helping students integrate the various aspects of language and context that we have set outto compare David Brazil, Malcolm Coulthard and Catherine Johns’s Discourse Intonation model –which we have been working with for morethan ten years– with the intonation approach in Systemic Functional Linguistics, by M.A.K. Halliday and William Greaves. We observe thetheoretical similarities between the two approaches in order to see how they may supplement one another. Then, we analyse a conversationtaken from a film following both theoretical approaches, and draw conclusions in the light of the comparison. Our preliminary results show thatthe two approaches explain the meanings conveyed with reference to different meaning-making resources. Brazil et al. explain the meaningsat risk in the interaction according to the phonological systems they describe (prominence, tone, key and termination). Halliday and Greavesdo so by referring to the phonological and lexico-grammatical strata in combination