ACORDE: viviendas flexibles y adaptables a las necesidades de las personas: casos de estudio adaptados a distintos países y realidades sociales

Peer Reviewe

Ciudad y tecnología. Metodología de estudio para ciudades inteligentes

La revolución digital actual ha revolucionado la evolución de las redes de comunicación así como el desarrollo de nuevos esquemas productivos. Los escenarios tecnológicos tradicionales asumen nuevos retos, y las ciudades se encuentran una nueva base para la competitividad urbana en forma de Ciudades Inteligentes. Sin embargo, se ha detectado una gran falta de claridad al intentar definir qué es realmente una Smart City. Al mismo tiempo, es el ciudadano quien tiene el poder de establecer estos nuevos escenarios, y es por ello que se necesita definir la forma en que las personas interactúan con sus nuevas ciudades híper-tecnológicas. Las tecnologías de la información y de la comunicación que gestionan y transforman las ciudades del Siglo 21 deben ser analizadas, estudiando su impacto en los nuevos comportamientos sociales que dan forma a los espacios urbanos y redefinen la forma de relacionarse, estableciendo la base de una metodología de análisis para revisar los diferentes elementos que afectan un entorno Smart City. Se requiere de una herramienta para contrastar las diferentes tecnologías urbanas en base a su funcionalidad y las consecuencias de su utilización, teniendo en cuenta el impacto de cada aplicación, para luego evaluar la combinación de los diferentes sistemas como la mejor manera de determinar lo que es una ciudad inteligente. Por todo lo anterior, el principal objetivo de este trabajo es definir y poner a prueba esas herramientas en escenarios prácticos, teniendo en cuenta cómo los nuevos sistemas y tecnologías afectan a las ciudades y sus ciudadanos, que deben ser la principal preocupación de todo el desarrollo urbano.The current digital revolution has ignited the evolution of communications networks and the development of new schemes for productive systems. Traditional technologic scenarios have been challenged, and Smart Cities have become the basis for urban competitiveness. But a lack of clarity has been detected in the way of describing what Smart Cities are. At the same time, the citizen is the one who has the power to set those new scenarios, and that is why a definition of the way people interact with their new hyper-technological cities is needed. The information and communication technologies that manage and transform 21st century cities must be reviewed, analyzing their impact on new social behaviors that shape urban spaces and define new relational mechanisms, setting the basis for an analysis matrix to review the different elements that affect a Smart City environment. So, there is a need for a tool to score the different technologies on the basis of their usefulness and consequences, considering the impact of each application, and then evaluate the combination of different systems as the better way to determine what a Smart City is. For all of that, the main objective of this work is to define and test those tools in practical scenarios, considering how new systems and technologies affects cities and citizens, who must be the main concern of all urban development.Programa Oficial de Doctorado en Ingeniería y Arquitectura (RD 1393/2007)Ingeniaritzako eta Arkitekturako Doktoretza Programa Ofiziala (ED 1393/2007

Analysis matrix for smart cities

The current digital revolution has ignited the evolution of communications grids and the development of new schemes for productive systems. Traditional technologic scenarios have been challenged, and Smart Cities have become the basis for urban competitiveness. The citizen is the one who has the power to set new scenarios, and that is why a definition of the way people interact with their cities is needed, as is commented in the first part of the article. At the same time, a lack of clarity has been detected in the way of describing what Smart Cities are, and the second part will try to set the basis for that. For all before, the information and communication technologies that manage and transform 21st century cities must be reviewed, analyzing their impact on new social behaviors that shape the spaces and means of communication, as is posed in the experimental section, setting the basis for an analysis matrix to score the different elements that affect a Smart City environment. So, as the better way to evaluate what a Smart City is, there is a need for a tool to score the different technologies on the basis of their usefulness and consequences, considering the impact of each application. For all of that, the final section describes the main objective of this article in practical scenarios, considering how the technologies are used by citizens, who must be the main concern of all urban development.This work was supported by the Spanish Ministry of Economy and Competitiveness TEC2010-17805 Research Project

An analysis matrix for the assessment of smart city technologies: main results of its application

The paper presents the main results of a previously developed methodology to better evaluate new technologies in Smart Cities, using a tool to evaluate different systems and technologies regarding their usefulness, considering each application and how technologies can impact the physical space and natural environment. Technologies have also been evaluated according to how they are used by citizens, who must be the main concern of all urban development. Through a survey conducted among the Smart City Spanish network (RECI) we found that the ICT’s that change our cities everyday must be reviewed, developing an innovative methodology in order to find an analysis matrix to assess and score all the technologies that affect a Smart City strategy. The paper provides the results of this methodology regarding the three main aspects to be considered in urban developments: mobility, energy efficiency, and quality of life after obtaining the final score for every analyzed technology. This methodology fulfills an identified need to study how new technologies could affect urban scenarios before being applied, developing an analysis system to be used by urban planners and policy-makers to decide how best to use them, and this paper tries to show, in a simple way, how they can appreciate the variances between different solutions.The authors would like to acknowledge Spanish Ministry of Economy and Competitiveness for the financial support through TEC2016-78047-R and Government of Navarra (Spain) Research Grants

Ways of reading and writing, a reconstruction of trajectories, paths and experiences in first-year students of the degree in Nutrition in the national university of La Matanza.

El proceso de democratización del acceso a la educación superior tuvo, entre otros efectos, un aumento de la expansión de la matrícula del sector y la ampliación y diversificación de la oferta institucional. A su vez, dicho proceso encontró su límite en la posibilidad de retener a los/as alumnos/as y expandir la tasa de graduación, volviendo no sólo al acceso a la universidad sino también a la permanencia en ella un problema social. En este marco, nos interesó analizar un aspecto de la permanencia que se vincula con el desencuentro entre lo esperado por los profesores y lo que los estudiantes logran en sus experiencias de lectura y escritura académica, así como también la preocupación por las consecuencias de dicho desacople. En este artículo presentamos parte de los resultados de una investigación cuyo objetivo fue indagar sobre modos de leer, escribir y estrategias de apropiación de alfabetización académica de estudiantes de primer año de la Licenciatura en Nutrición de una universidad del conurbano bonaerense. Asimismo, se orientó a reconstruir sus trayectorias, recorridos y experiencias educativas previas al ingreso a la universidad. Dicha investigación fue de duración bianual y combinó diversas técnicas: entrevistas en profundidad, observación de clases y un cuestionario. En este artículo haremos referencia específicamente a los resultados obtenidos durante el primer año de trabajo donde se efectuó un cuestionario autoadministrado a un total de 139 estudiantes correspondientes al primer año de la carrera de Nutrición.Entre los resultados principales se destacan las grandes dificultades que los estudiantes encuentran relacionadas con la organización del tiempo y con la carga de lectura. Así como también la dificultad de apropiarse del lenguaje académico característico de la carrera y de la educación superior en general.The process of democratization of access to higher education had, among other effects, an increase in the expansion of enrollment in the sector and the expansion and diversification of the institutional offer. Also, this process found its limit in the possibility of retaining students and expanding the graduation rate, making not only access to university but also permanence in it a social problem. In this framework, we were interested in analyzing an aspect of permanence that is linked to the disagreement between what is expected by teachers and what students achieve in their academic reading and writing experiences, as well as concern about the consequences of disengagement. In this article we present part of the results of an investigation whose objective was to investigate ways of reading, writing and appropriation strategies of academic literacy of firstyear students of the Bachelor's Degree in Nutrition from a university in Buenos Aires suburbs. Likewise, it was oriented to reconstruct their trajectories, journeys and educational experiences prior to entering the university. This biannuall investigation combined various techniques: in-depth interviews, class observation, and a questionnaire. In this article we will make specific reference to the results obtained during the first year of work where a self-administered questionnaire was carried out on a total of 139 students corresponding to the first year of the Nutrition career. Among the main results, the great difficulties that students find related to time organization and reading load stand out. As well as the difficulty of appropriating the academic language characteristic of the career and higher education in general.Fil: Areces, Graciela Silvina. Universidad Nacional de La Matanza; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gessaghi, Victoria. Universidad Nacional de La Matanza; ArgentinaFil: Branchi, Maria Mercedes. Universidad Nacional de La Matanza; ArgentinaFil: Castro Citera, Pablo Ariel. Universidad Nacional de La Matanza; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Saez, Victoria. Universidad Nacional de La Matanza; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Frasco Zuker, Laura. Universidad Nacional de San Martín. Escuela de Humanidades. Laboratorio de Investigación en Ciencias Humanas - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Laboratorio de Investigación en Ciencias Humanas; Argentin

Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Background and aims: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age.Methods: From the Italian LIPIGEN cohort, we selected 1188 (>= 18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation.Results: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives.Conclusions: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age

Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P<0.0001). The mean value (±SD) of the polygenic LDL-C risk score was 1.00 (±0.18) in patients who were FH-mutation negative and 0.94 (±0.20) in patients who were FH-mutation positive (P<0.0001). In the receiver operating characteristic analysis, the area under the curve for recognizing subjects characterized by polygenic hypercholesterolemia was 0.59 (95% CI, 0.56-0.62), with sensitivity and specificity being 78% and 36%, respectively, at 0.905 as a cutoff value. Higher mean polygenic LDL-C risk score levels were observed among patients who were FH-mutation negative having pretreatment LDL-C levels in the range of 150 to 350 mg/dL (150-249 mg/dL: 1.01 versus 0.91, P<0.0001; 250-349 mg/dL: 1.02 versus 0.95, P=0.0001). A positive correlation between polygenic LDL-C risk score and pretreatment LDL-C levels was observed among patients with FH independently of the presence of causative mutations. Conclusions This analysis confirms the role of polymorphisms in modulating LDL-C levels, even in patients with genetically confirmed FH. More data are needed to support the use of the polygenic score in routine clinical practice

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M- and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M- also had lower mean levels of pretreatment low-density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M- and FH/M+ groups &lt;0.0001); however, subjects with FH/M- and lp(a) score ≥1 had higher mean (SD) pretreatment low-density lipoprotein cholesterol levels (223.47 [50.40] mg/dL) compared with subjects with FH/M- and lp(a) score=0 (219.38 [54.54] mg/dL for), although not statistically significant. The adjustment of low-density lipoprotein cholesterol levels based on lp(a) concentration reduced from 68% to 42% the proportion of subjects with low-density lipoprotein cholesterol level ≥190 mg/dL (or from 68% to 50%, considering a more conservative formula). Conclusions Our study supports the importance of measuring lp(a) to perform the diagnosis of FH appropriately and to exclude that the observed phenotype is driven by elevated levels of lp(a) before performing the genetic test for FH

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life