Enabling: On the dispersion of the nuclear family model. New parameters of the boundary of living

Enabling (Habilitar) is an investigation into the breaking of the traditional boundaries of living. The study area of housing, still driven by the norms of a nuclear family and full of legal, technical, and economic rules, is rethought under Carmen´s perspective, a girl who, under the regime of shared custody, constantly moves between two ways of living, between two houses. From this first vision, from this experience, the boundary of the birthplace is diluted, the housing programme is dispersed and the use of certain elements is reinterpreted. There is a valid ambiguity in the use of spaces, furniture and objects that clash with the strict design limits of the house. There are new family and relationship needs and, therefore, this new dimension of the domestic, which has exceeded the conceptual limit of the family home (the “home for life”) requires a more flexible and versatile, more human based housing design.Habilitando es una investigación sobre la ruptura de las tradicionales fronteras del habitar. El campo de la vivienda, aún sumergido en los cánones de familia nuclear y repleto de reglas jurídicas, técnicas y económicas, se replantea bajo la óptica de Carmen, una niña que, bajo el régimen de custodia compartida, transita constantemente entre dos modelos de convivencia, entre dos casas. Desde esta visión primera, desde esta experiencia, la frontera de la casa natal se diluye, el programa de la vivienda se dispersa y el uso de ciertos elementos se resignifica. Existe una ambigüedad válida en la utilización de espacios, mobiliario y objetos que chocan con los estrictos límites de diseño de la vivienda. Existen nuevas necesidades familiares y de relación y, por tanto, esta nueva dimensión de lo doméstico, que ha sobrepasado el límite conceptual de la casa familiar (esa “casa para toda la vida”) nos exige la integración de un diseño más versátil, más humano, en el campo de la vivienda

Estrategias de conciliación trabajo productivo y reproductivo en parejas de doble ingreso de la ciudad de Talca, Chile

En un escenario de intensas transformaciones sociales y familiares, y de búsqueda de equilibrio en la distribución de roles al interior de las familias, la conciliación del trabajo productivo y reproductivo emerge como un elemento central en el desarrollo social de los países

Work-life balance strategies for productive and reproductive work in double-income couples from the city of Talca, Chile

En un escenario de intensas transformaciones sociales y familiares, y de búsqueda de equilibrio en la distribución de roles al interior de las familias, la conciliación del trabajo productivo y reproductivo emerge como un elemento central en el desarrollo social de los países. Este estudio busca contribuir a dilucidar los tipos de estrategias de conciliación del trabajo productivo-reproductivo, (según presencia o no de hijos/as y algunas variables socio demográficas de interés) utilizadas por parejas de doble ingreso de la ciudad de Talca (Chile), para conciliar ambas esferas y su posible relación con variables sociodemográficas como género, grupo socioeconómico o nivel educacional. La metodología incluyó entrevistas semiestructuradas, seleccionando a 15 parejas de doble ingreso, menores de 45 años, en las cuales ambos integrantes trabajaran fuera del hogar, con el objetivo de identificar la perspectiva del sujeto estudiado, categorías recurrentes en sus discursos y los motivos de sus actos sobre la base de un marco comparable, pero flexible. A pesar que los principales resultados constatan una mayor participación de los varones en las tareas domésticas, su presencia está marcada por una lógica patriarcal que define su rol desde la dominación en la esfera reproductiva.In a scenario of intense social and family transformations, and the search for balance in the distribution of roles within families, the productive-reproductive work balance emerges as a central aspect in the social development of the countries. This study seeks to contribute to elucidating the types of strategies for reconciling productive-reproductive work, according to the presence or absence of children and some sociodemographic variables of interest, used by double-income couples in the city of Talca (Chile), to worl-life balance and its possible relationship with socio-demographic variables such as gender, socioeconomic group or educational level. The methodology included semi-structured interviews, selecting 15 double-income couples, under 45 years of age, in which both members worked outside the home, in order to identify the perspective of the subject studied, their mental categories and the reasons for their acts on the basis of a comparable, but flexible framework. Despite the fact that the main results confirm a greater participation of men in domestic tasks, their presence is marked by a patriarchal logic that defines their role from domination in the reproductive sphere.Facultad de Humanidades y Ciencias de la Educació

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated human induced pluripotent stem cell (hiPSC) lines RP3-FiPS4F1 and Ctrl3-FiPS4F1, were free of genomically integrated reprogramming genes, showed stable karyotypes, expressed pluripotency markers and could be differentiated towards the three germ layers in vitro. These hiPSC lines offer a useful resource to study RP pathomechanisms, drug testing and therapeutic opportunities

“Viceversos Socio-arquitectónicos”. Tentativas metodológicas para ampliar márgenes disciplinares en Arquitectura y Sociología

El Trabajo de la Red reflexiona acerca de modos de retro-alimentar las prácticas docentes arquitectónicas y sociológicas con metodologías aparentemente exclusivas de cada una de ellas. La Red está formada por investigadores docentes y estudiantes de ambas ramas de conocimiento y acaba cristalizando en una serie de acciones para los cuales los miembros de la red son ponentes u observadores-narradores. Tras una serie de reuniones introductorias llevadas a cabo desde finales de 2013, la escenificación de los acuerdos se realizó el 6 de marzo de 2014 entorno a una mesa tapizada con la cartografía de Alicante y Murcia en el aula 4 del Politécnico IV de la UA. En ella, los ponentes fueron explicando sus propuestas mientras colocaban unos indicadores en el mapa de la región de Murcia y Alicante a la espera de adhesiones para formar grupos. Coincidiendo con el final del curso académico, las propuestas de análisis tuvieron lugar y son expuestas, resumidamente, en esta memoria de Red

Burkitt-like lymphoma with 11q aberration: A germinal center derived lymphoma genetically unrelated to Burkitt lymphoma

Burkitt-like lymphoma with 11q aberration is characterized by pathological features and gene expression profile resembling Burkitt lymphoma but lack MYC rearrangement and carries an 11q-arm aberration with proximal gains and telomeric losses. Whether these lymphomas are a distinct category or a particular variant of other recognized entities is controversial. To improve the understanding of Burkitt-like lymphoma with 11q aberration we have performed an analysis of copy number alterations and targeted sequencing of a large panel of B-cell lymphoma related genes in 11 cases. Most patients had localized nodal disease and a favourable outcome after therapy. Histologically, they were high grade B-cell lymphoma, not otherwise specified (8 cases), diffuse large B-cell lymphoma (2 cases) and only one was considered as atypical Burkitt lymphoma. All cases had a germinal center B-cell signature and phenotype with frequent LMO2 expression. Burkitt-like lymphoma with 11q aberration had frequent gains of 12q12-q21.1 and losses of 6q12.1-q21, and lacked common Burkitt lymphoma or diffuse large B-cell lymphoma alterations. Potential driver mutations were found in 27 genes, particularly involving BTG2, DDX3X, ETS1, EP300, and GNA13. However, ID3, TCF3, or CCND3 mutations were absent in all cases. These results suggest that Burkitt-like lymphoma with 11q aberration is a germinal center derived lymphoma closer to high grade B-cell lymphoma or diffuse large B-cell lymphoma rather than Burkitt lymphoma.Copyright © 2019, Ferrata Storti Foundation

Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma

Background T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are scarce and, therefore, its molecular landscape has not yet been fully elucidated. Thus, the aims of this study were to characterize the genetic and molecular heterogeneity of paediatric T-LBL and to evaluate novel molecular markers differentiating this entity from T-ALL. Procedure Thirty-three paediatric T-LBL patients were analyzed using an integrated approach, including targeted next-generation sequencing, RNA-sequencing transcriptome analysis and copy-number arrays. Results Copy number and mutational analyses allowed the detection of recurrent homozygous deletions of 9p/CDKN2A (78%), trisomy 20 (19%) and gains of 17q24-q25 (16%), as well as frequent mutations of NOTCH1 (62%), followed by the BCL11B (23%), WT1 (19%) and FBXW7, PHF6 and RPL10 genes (15%, respectively). This genetic profile did not differ from that described in T-ALL in terms of mutation incidence and global genomic complexity level, but unveiled virtually exclusive 17q25 gains and trisomy 20 in T-LBL. Additionally, we identified novel gene fusions in paediatric T-LBL, including NOTCH1-IKZF2, RNGTT-SNAP91 and DDX3X-MLLT10, the last being the only one previously described in T-ALL. Moreover, clinical correlations highlighted the presence of Notch pathway alterations as a factor related to favourable outcome. Conclusions In summary, the genomic landscape of paediatric T-LBL is similar to that observed in T-ALL, and Notch signaling pathway deregulation remains the cornerstone in its pathogenesis, including not only mutations but fusion genes targeting NOTCH1.We thank the centres of the Sociedad Espanola de Hematologia y Oncologia Pediatricas that submitted cases for consultation, to Noelia Garcia, Silvia Martin and Helena Suarez for their excellent technical assistance and to Nerea Dominguez for updating clinical data. We are indebted to the IDIBAPS Genomics Core Facility and to the HCB-IDIBAPS, the HospitaI Infantil Sant Joan de Deu and the Hospital Universitari Vall d'Hebron Tumour Biobanks, all integrated in the National Network Biobanks of ISCIII for the sample and data procurement. This work was supported by Asociacion Espanola Contra el Cancer (AECC CICPFI6025SALA and 'Ayudas Clinico Formacion AECC 2020' to Jaime Verdu-Amoros), Asociacion de aitas y amas para la humanizacion, socializacion e investigacion del Cancer Infantil y la divulgacion de la donacion de medula osea-La Cuadri del Hospi, Fondo de Investigaciones Sanitarias Instituto de Salud Carlos III (Miguel Servet Program I and II CP13/00159 and MSII18/00015; Itziar Salaverria), Generalitat de Catalunya Suport Grups de Recerca (2017-SGR-1107; Itziar Salaverria), and the European Regional Development Fund 'Una manera de fer Europa'. Joan Enric Ramis-Zaldivar was supported by a fellowship AGAUR FI-DGR 2017 (2017 FI_B01004) from Generalitat de Catalunya. Noelia Garcia has been continuously supported by Accio instrumental d'incorporacio de cientifics i tecnlegs PERIS 2016 (SLT002/16/00336) and PERIS 2020 (SL017/20/000204) from Generalitat de Catalunya. Julia Salmeron-Villalobos was supported by a fellowship from La Caixa (CLLEvolution-HR17-00221). This work was developed partially at the Centro Esther Koplowitz, Barcelona, Spain

Efficacy of Albumin Treatment for Patients with Cirrhosis and Infections Unrelated to Spontaneous Bacterial Peritonitis

Background & aims: We performed a randomized trial to determine whether albumin should be administered to patients with infections unrelated to spontaneous bacterial peritonitis (SBP). Methods: We performed a multicenter, open-label trial in which 118 patients with cirrhosis, non-SBP infections, and additional risk factors for poor outcome were randomly assigned to receive antibiotics plus albumin (study group; n = 61) or antibiotics alone (control group; n = 57). The primary outcome was in-hospital mortality; secondary outcomes were effect of albumin on disease course. Results: There were no significant differences at baseline between groups in results from standard laboratory tests, serum markers of inflammation, circulatory dysfunction, or liver severity scores. However, the combined prevalence of acute on chronic liver failure (ACLF) and kidney dysfunction was significantly higher in the study group (44.3% vs 24.6% in the control group; P = .02), indicating greater baseline overall severity. There was no significant difference in the primary outcome between groups (13.1% in the study group vs 10.5% in the control group; P = .66). Circulatory and renal functions improved in only the study group. A significantly higher proportion of patients in the study group had resolution of ACLF (82.3% vs 33.3% in the control group; P = .03). A significantly lower proportion of patients in the study group developed nosocomial infections (6.6% vs 24.6% in the control group; P = .007). Conclusions: In a randomized trial of patients with advanced cirrhosis and non-SBP infections, in-hospital mortality was similar between those who received albumin plus antibiotics vs those who received only antibiotics (controls). However, patients given albumin were sicker at baseline and, during the follow-up period, a higher proportion had ACLF resolution and a lower proportion had nosocomial infections. ClinicalTrials.gov no: NCT02034279

Effects of Albumin Treatment on Systemic and Portal Hemodynamics and Systemic Inflammation in Patients With Decompensated Cirrhosis

BACKGROUND & AIMS: We investigated the effect of albumin treatment (20% solution) on hypoalbuminemia, cardiocirculatory dysfunction, portal hypertension, and systemic inflammation in patients with decompensated cirrhosis with and without bacterial infections. METHODS: We performed a prospective study to assess the effects of long-term (12 weeks) treatment with low doses (1 g/kg body weight every 2 weeks) and high doses (1.5 g/kg every week) of albumin on serum albumin, plasma renin, cardiocirculatory function, portal pressure, and plasma levels of cytokines, collecting data from 18 patients without bacterial infections (the Pilot-PRECIOSA study). We also assessed the effect of short-term (1 week) treatment with antibiotics alone vs the combination of albumin plus antibiotics (1.5 g/kg on day 1 and 1 g/kg on day 3) on plasma levels of cytokines in biobanked samples from 78 patients with bacterial infections included in a randomized controlled trial (INFECIR-2 study). RESULTS: Circulatory dysfunction and systemic inflammation were extremely unstable in many patients included in the Pilot-PRECIOSA study; these patients had intense and reversible peaks in plasma levels of renin and interleukin 6. Long-term high-dose albumin, but not low-dose albumin, was associated with normalization of serum level of albumin, improved stability of the circulation and left ventricular function, and reduced plasma levels of cytokines (interleukin 6, granulocyte colony-stimulating factor, interleukin 1 receptor antagonist, and vascular endothelial growth factor) without significant changes in portal pressure. The immune-modulatory effects of albumin observed in the Pilot-PRECIOSA study were confirmed in the INFECIR-2 study. In this study, patients given albumin had significant reductions in plasma levels of cytokines. CONCLUSIONS: In an analysis of data from 2 trials (Pilot-PRECIOSA study and INFECIR-2 study), we found that albumin treatment reduced systemic inflammation and cardiocirculatory dysfunction in patients with decompensated cirrhosis. These effects might be responsible for the beneficial effects of albumin therapy on outcomes of patients with decompensated cirrhosis. ClinicalTrials.gov, Numbers: NCT00968695 and NCT03451292

SAFE: Programa de Soporte para Adolescentes Acogidos y Acogidas en Familia Extensa

El programa es el resultado de una investigación I+D. Se dirige a jóvenes que se encuentran en acogimiento en familia extensa. El Programa de Soporte para Adolescentes Acogidos y Acogidas en Familia Extensa (SAFE) facilita una intervención grupal a lo largo de 9 sesiones centrada en el desarrollo de un mejor conocimiento y comprensión de los aspectos diferenciales del acogimiento familiar con los jóvenes acogidos en familia extensa. Los destinatarios del programa son adolescentes que se encuentran en acogimiento familiar en familia extensa, de edades preferentemente entre los 12 y los 16 años. El enfoque de resiliencia y apoyo social son referentes teóricos del programa