A Modelling Language for Discourse Analysis in Humanities: Definition, Design, Validation and First Experiences

Due to humanities generally produce knowledge in textual formats (e.g. narrative conclusions or reports), a properly management of the humanities corpus needs methods for conceptualizing and extracting information from textual sources. Discourse analysis techniques allow extracting information in terms of the connection between discourse structure and elements of the reality referred in the text, as well as the inferential dimension. This semantic information is not available following other extraction methods from texts. In order to formalize the discourse analysis application for textual sources in humanities, a modelling language has been defined and initially validated with humanities specialists, showing the discourse structure and the semantic and inferential aspects extracted

May Measurement Month 2018: a pragmatic global screening campaign to raise awareness of blood pressure by the International Society of Hypertension

Aims Raised blood pressure (BP) is the biggest contributor to mortality and disease burden worldwide and fewer than half of those with hypertension are aware of it. May Measurement Month (MMM) is a global campaign set up in 2017, to raise awareness of high BP and as a pragmatic solution to a lack of formal screening worldwide. The 2018 campaign was expanded, aiming to include more participants and countries. Methods and results Eighty-nine countries participated in MMM 2018. Volunteers (≥18 years) were recruited through opportunistic sampling at a variety of screening sites. Each participant had three BP measurements and completed a questionnaire on demographic, lifestyle, and environmental factors. Hypertension was defined as a systolic BP ≥140 mmHg or diastolic BP ≥90 mmHg, or taking antihypertensive medication. In total, 74.9% of screenees provided three BP readings. Multiple imputation using chained equations was used to impute missing readings. 1 504 963 individuals (mean age 45.3 years; 52.4% female) were screened. After multiple imputation, 502 079 (33.4%) individuals had hypertension, of whom 59.5% were aware of their diagnosis and 55.3% were taking antihypertensive medication. Of those on medication, 60.0% were controlled and of all hypertensives, 33.2% were controlled. We detected 224 285 individuals with untreated hypertension and 111 214 individuals with inadequately treated (systolic BP ≥ 140 mmHg or diastolic BP ≥ 90 mmHg) hypertension. Conclusion May Measurement Month expanded significantly compared with 2017, including more participants in more countries. The campaign identified over 335 000 adults with untreated or inadequately treated hypertension. In the absence of systematic screening programmes, MMM was effective at raising awareness at least among these individuals at risk

Conceptualization and Non-Relational Implementation of Ontological and Epistemic Vagueness of Information in Digital Humanities

Research in the digital humanities often involves vague information, either because our objects of study lack clearly defined boundaries, or because our knowledge about them is incomplete or hypothetical, which is especially true in disciplines about our past (such as history, archaeology, and classical studies). Most techniques used to represent data vagueness emerged from natural sciences, and lack the expressiveness that would be ideal for humanistic contexts. Building on previous work, we present here a conceptual framework based on the ConML modelling language for the expression of information vagueness in digital humanities. In addition, we propose an implementation on non-relational data stores, which are becoming popular within the digital humanities. Having clear implementation guidelines allow us to employ search engines or big data systems (commonly implemented using non-relational approaches) to handle the vague aspects of information. The proposed implementation guidelines have been validated in practice, and show how we can query a vagueness-aware system without a large penalty in analytical and processing power

<i>PRPH2</i>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype–phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families. A molecular diagnosis was performed using classical molecular approaches and next-generation sequencing. Common haplotypes were ascertained by analyzing single-nucleotide polymorphisms. We identified 56 variants, including 11 novel variants. Most of them were missense variants (64%) and were located in the D2-loop protein domain (77%). The most frequently occurring variants were p.Gly167Ser, p.Gly208Asp and p.Pro221_Cys222del. Haplotype analysis revealed a shared region in families carrying p.Leu41Pro or p.Pro221_Cys222del. Patients with retinitis pigmentosa presented an earlier disease onset. We describe the largest cohort of IRD families associated with PRPH2 from a single center. Most variants were located in the D2-loop domain, highlighting its importance in interacting with other proteins. Our work suggests a likely founder effect for the variants p.Leu41Pro and p.Pro221_Cys222del in our Spanish cohort. Phenotypes with a primary rod alteration presented more severe affectation. Finally, the high phenotypic variability in PRPH2 hinders the possibility of drawing genotype–phenotype correlations

Scire vias: humanidades digitales y conocimiento

Digitalia Humanística, nº 2[Resumen] Este volumen, que se presenta bajo el lema del conocimiento y de la búsqueda de los caminos para conseguirlo en el entorno de este encuentro entre el campo privilegiado del estudio científico del pensamiento humano que son las humanidades y las tecnologías digitales y el mundo virtual, se estructura en tres secciones que, a través de doce contribuciones, exploran tres territorios de las Humanidades Digitales que a la vez engloban diversos aspectos relacionados entre sí. En la primera sección se contemplan desde distintos puntos de vista y con objetivos y objetos diferentes cuestiones relacionadas con el patrimonio cultural y su valor (“Humanidades Digitales y Arqueología: experimentando con modelos de reconocimiento automático de texto manuscrito en español sobre patrimonio cultural de inicios del siglo XX “, “El trabajo-proyecto Patrimonio Herido: Una propuesta de innovación educativa transdisciplinar”) y con el patrimonio construido, reconstruido y visualizado (“Más allá de la representación tridimensional: la arquitectura (des)aparecida del Asilo de las Mercedes en el espacio digital”, “Estudio interdisciplinar de una relación festiva: de la descripción textual a la representación visual de la arquitectura efímera y su iconografía” y “3D más allá de la reconstrucción virtual: Una herramienta al servicio de la gestión integral del patrimonio en la ermita de Sant Llorenç de la Senabra”). La segunda sección se ocupa del lenguaje, el texto y la literatura, ofreciendo análisis de corpus (“Entre la Historia y la Filología: ElproyectoCORDICan yelvalordela interdisciplinariedad en las HD a través de la documentación relativa a dotes y arras”), estudios de literatura (“La evolución de los libros de caballerías castellanos en el tiempo y el espacio”), una reflexión sobre las bibliotecas digitales con ediciones críticas (“Luces y sombras: Las grandes bibliotecas de textos griegos y latinos ante los retos de la nueva era de edición digital”) y los estudios de teatro (“Proyecto HDATEATROUNIR: Realidades y perspectivas para el estudio del teatro desde las HD”). Por último, en la tercera sección se recogen tres trabajos que se ocupan del modelado (“Identificando el sujeto del paisaje: Modelado e integración de la dimensión social para una (re) lectura de la geografía altomedieval”), de los datos (“HILAME: De la persona al dato, del dato a la persona”) y de la información obtenida de las redes sociales (“Estrategias de recuperación de información mediante pooling para la construcción de colecciones de referencia desde redes sociales: Caso de estudio durante las tensiones raciales de 2020”)