Rare-EDIFICA-SOS: recuperación arquitectónica de lo inconcluso-obsoleto, desde una rehabilitación más sostenible

...ante el conjunto de edificios existentes que, por razones energéticas, históricas, estéticas o económicas, han dejado de ser considerados como eficientes desde el punto de vista de la habitabilidad contemporánea [obsoletos]... ...ante el conjunto de edificios en los cuales el hecho arquitectónico no ha llegado a ser completado, por razones ciertamente relacionadas con la deriva económico-social de los años precedentes, dando lugar a “elefantes blancos” varados a lo largo y ancho de la geografía andaluza [inconclusos]... ...ante el conjunto de edificios e inmuebles concluidos pero no habitados (o bien, habitados de manera a-legal), dando lugar a consideraciones y problemáticas sociales de imperiosa actualidad [quiméricos]... ...se habrán de conjeturar una serie de factores que, a la postre, repercutirán en la viabilidad de la conservación, reparación, consolidación, transformación, reforma, rehabilitación o, en definitiva, de su recuperación optimizada, con la premisa de que las construcciones a considerar constarán –en su mayoría- de condiciones tecnológicas, estructurales, constructivas y de materialidad distintas a las usuales hoy en día. Bajo tales consideraciones, el principal objetivo del trabajo de investigación sería la detección del conjunto de edificaciones obsoletas, inconclusas y quiméricas en Andalucía y su clasificación por grados de obsolescencia y falta de terminación, así como estado de ocupación para, tras una estratégica diagnosis sobre oportunidades de recuperación (en las que podría englobarse la viabilidad de nuevos usos o la aplicación de nuevas formas de gestión de la habitabilidad contemporánea), diseñar finalmente propuestas que permitan la recuperación de las edificaciones a través soluciones constructivas sostenibles para un ámbito característico (el hábitat mediterráneo), relacionadas con la envolvente del edificio y su rehabilitación energética....given the set of existing buildings that, for energetic, historical, aesthetic or economic reasons, are no longer considered efficient from the point of view of contemporary habitability [obsolete]... ...given the set of buildings in which the architectonic fact has not become completed, for reasons certainly related with the economic-social results from previous years, resulting white elephants stranded, in this case along the andalusian geography [inconclusive]... ...given the sets of constructed building uninhabited or habited but without the normal and legal consideration and social issues [chimeric]......then, a whole set of factors, that ultimately will have an impact on the viability of the maintenance, repair, consolidation, transformation, reform, rehabilitation or, definitively, its optimized recovery, will have to be surmised, with the premise that the constructions considered will feature, mostly, with technological, structural, constructive and materials conditions different from the actual. Under the above considerations, the main aim of the research would be the detection of the set of obsolete, inconclusive and chimeric buildings in Andalusia and its classification by degree of obsolescence, failure to complete and occupation status to, after a strategic diagnosis about opportunities recovery (in which could be encompassed the viability of new uses or the application of new management of contemporary habitability), design proposals that allow the recovery of buildings through sustainable constructional solutions for a characteristic mediterranean habitat, related to the building envelope and its energy rehabilitation

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Cálculo de placas mediante asimilación a emparrillados: una revisión

El método de cálculo de placas mediante asimilación a emparrillados de barras no es de aplicación directa e inmediata, sino que requiere el uso de una metodología que proporcione tanto la manera de pasar de un tipo estructural a otro como la de interpretar los resultados obtenidos en este último, de forma que sean aplicables al primero; actualmente, en la utilización práctica de este método se recurre a unos criterios, compilados de diversos autores y publicaciones, que en muchos casos dan lugar a errores que caen incluso del lado de la inseguridad. El presente trabajo pretende sentar las bases para una correcta utilización del método en el cálculo de placas planas de forma cualquiera, sometidas a cualquier tipo de cargas perpendiculares a su plano y sustentadas de cualquier manera. La bondad del método se ha comprobado mediante comparaciones de los resultados obtenidos, en diversos tipos de placas con los proporcionados por otros autores y métodos

Epilepsia eta Genetika

El aislamiento de determinados genes que intervienen en el origen de la epilepsia idiopática ha permitido una mejor clasi cación de la epilepsia. En el presente trabajo se da cuenta del examen clínico de dos familias con síndrome epiléptico. La primera muestra una epilepsia nocturna asociada al cromosoma 20q, que presenta una mutación en el gen (CHRNA4) de la subunidad 4 del receptor nicotínico de la acetilcolina. La segunda muestra una epilepsia lateral temporal autosómica dominante asociada al cromosoma 10q.Epilepsia idiopatikoen sorreran parte hartzen duten zenbait geneen isolaketak epilepsiaren sailkapena hobetzea baimendu du. Lan honetan sindrome epileptikoa duten bi sendiren ikerketa kliniko eta genetikoa aurkezten da. Lehenak, 20q kromosomari loturiko gau epilepsia frontala agertzen du, azetil kolinaren errezeptore nikotinikoaren 4 azpiunitatearen genean (CHRNA4) mutazio bat agertzen duelarik. Bigarrenak, 10q kromosomari loturiko autosomiko gainartzailea den epilepsia albo-tenporala agertzen du.L'isolement de certains gènes qui interviennent dans l'origine de l'épilepsie idiopathique a permis une meilleure classi cation de l'épilepsie. Dans ce travail on rend compte de l'examen clinique de deux familles qui souffrent du syndrome épileptique. La première montre une épilepsie nocturne associée au chromosome 20q, qui présente une mutation dans le gène (CHRNA4) de la sous-unité 4 du récepteur nicotinique de l'acétylcholine. La seconde montre une épilepsie latérale temporelle autosomique dominante associée au chromosome 10q.The isolating of certain genes that intervene in the origin of idiopathic epilepsy has allowed for a better classification of epilepsy as a whole. This work is about the clinical analysis of two families with an epileptic syndrome. The first family displays a nocturnal epilepsy associated to chromosome 20q, which has a mutation in gen (CHRNA4) of sub-unit á4 of the acetylcoline nicotinic receptor. The second family displays a dominant lateral temporal lobe and autosomal epilepsy associated to chromosome 10q

African Swine Fever Virus Ubiquitin-Conjugating Enzyme Interacts With Host Translation Machinery to Regulate the Host Protein Synthesis

15 Pág.African Swine Fever virus (ASFV) causes one of the most relevant emerging diseases affecting swine, now extended through three continents. The virus has a large coding capacity to deploy an arsenal of molecules antagonizing the host functions. In the present work, we have studied the only known E2 viral-conjugating enzyme, UBCv1 that is encoded by the I215L gene of ASFV. UBCv1 was expressed as an early expression protein that accumulates throughout the course of infection. This versatile protein, bound several types of polyubiquitin chains and its catalytic domain was required for enzymatic activity. High throughput mass spectrometry analysis in combination with a screening of an alveolar macrophage library was used to identify and characterize novel UBCv1-host interactors. The analysis revealed interaction with the 40S ribosomal protein RPS23, the cap-dependent translation machinery initiation factor eIF4E, and the E3 ubiquitin ligase Cullin 4B. Our data show that during ASFV infection, UBCv1 was able to bind to eIF4E, independent from the cap-dependent complex. Our results provide novel insights into the function of the viral UBCv1 in hijacking cellular components that impact the mTORC signaling pathway, the regulation of the host translation machinery, and the cellular protein expression during the ASFV lifecycle.This research was partially supported through Spanish Ministry of Science and Innovation under Award Number RTI2018-097305-R-I00. Funding from “la Caixa” Banking Foundation under the project code HR18-00469 and EU H2020 VACDIVA SFS-12-2019-862874 is acknowledged. Fellowship Award FPI references BES-2013-066610 and BES 2010-036950 funded B-GL and RM-M Work in EN-V. laboratory was funded by project NIETO-CM B2017/BMD 3731 and in CM laboratory was funded by the United Kingdom Biotechnology and Biological Sciences Research Council (grant ref. BB/M003647/1).Peer reviewe

Evaluating the accuracy of self-collected swabs for the diagnosis of monkeypox.

We evaluated the accuracy of patient-collected skin lesions, oropharyngeal, and rectal swabs amongst 50 individuals enrolled in a study of monkeypox viral dynamics. We found that the performance of self-collected samples was similar to that of physician-collected samples, suggesting that self-sampling is a reliable strategy for diagnosing monkeypox

Impact of late presentation of HIV infection on short-, mid- and long-term mortality and causes of death in a multicenter national cohort : 2004-2013

To analyze the impact of late presentation (LP) on overall mortality and causes of death and describe LP trends and risk factors (2004-2013). Cox models and logistic regression were used to analyze data from a nation-wide cohort in Spain. LP is defined as being diagnosed when CD4 < 350 cells/ml or AIDS. Of 7165 new HIV diagnoses, 46.9% (CI:45.7-48.0) were LP, 240 patients died.First-year mortality was the highest (aHR = 10.3[CI:5.5-19.3]); between 1 and 4 years post-diagnosis, aHR = 1.9(1.2-3.0); an

Discovering HIV related information by means of association rules and machine learning

Acquired immunodeficiency syndrome (AIDS) is still one of the main health problems worldwide. It is therefore essential to keep making progress in improving the prognosis and quality of life of affected patients. One way to advance along this pathway is to uncover connections between other disorders associated with HIV/AIDS-so that they can be anticipated and possibly mitigated. We propose to achieve this by using Association Rules (ARs). They allow us to represent the dependencies between a number of diseases and other specific diseases. However, classical techniques systematically generate every AR meeting some minimal conditions on data frequency, hence generating a vast amount of uninteresting ARs, which need to be filtered out. The lack of manually annotated ARs has favored unsupervised filtering, even though they produce limited results. In this paper, we propose a semi-supervised system, able to identify relevant ARs among HIV-related diseases with a minimal amount of annotated training data. Our system has been able to extract a good number of relationships between HIV-related diseases that have been previously detected in the literature but are scattered and are often little known. Furthermore, a number of plausible new relationships have shown up which deserve further investigation by qualified medical experts

Clinical presentation and virological assessment of confirmed human monkeypox virus cases in Spain: a prospective observational cohort study.

BACKGROUND: In May, 2022, several European countries reported autochthonous cases of monkeypox, which rapidly spread globally. Early reports suggest atypical presentations. We aimed to investigate clinical and virological characteristics of cases of human monkeypox in Spain. METHODS: This multicentre, prospective, observational cohort study was done in three sexual health clinics in Madrid and Barcelona, Spain. We enrolled all consecutive patients with laboratory-confirmed monkeypox from May 11 to June 29, 2022. Participants were offered lesion, anal, and oropharynx swabs for PCR testing. Participant data were collected by means of interviews conducted by dermatologists or specialists in sexually transmitted infections and were recorded using a standard case report form. Outcomes assessed in all participants with a confirmed diagnosis were demographics, smallpox vaccination, HIV status, exposure to someone with monkeypox, travel, mass gathering attendance, risk factors for sexually transmitted infections, sexual behaviour, signs and symptoms on first presentation, virological results at multiple body sites, co-infection with other sexually transmitted pathogens, and clinical outcomes 14 days after the initial presentation. Clinical outcomes were followed up until July 13, 2022. FINDINGS: 181 patients had a confirmed monkeypox diagnosis and were enrolled in the study. 166 (92%) identified as gay men, bisexual men, or other men who have sex with men (MSM) and 15 (8%) identified as heterosexual men or heterosexual women. Median age was 37·0 years (IQR 31·0-42·0). 32 (18%) patients reported previous smallpox vaccination, 72 (40%) were HIV-positive, eight (11%) had a CD4 cell count less than 500 cells per μL, and 31 (17%) were diagnosed with a concurrent sexually transmitted infection. Median incubation was 7·0 days (IQR 5·0-10·0). All participants presented with skin lesions; 141 (78%) participants had lesions in the anogenital region, and 78 (43%) in the oral and perioral region. 70 (39%) participants had complications requiring treatment: 45 (25%) had a proctitis, 19 (10%) had tonsillitis, 15 (8%) had penile oedema, six (3%) an abscess, and eight (4%) had an exanthem. Three (2%) patients required hospital admission. 178 (99%) of 180 swabs from skin lesions collected tested positive, as did 82 (70%) of 117 throat swabs. Viral load was higher in lesion swabs than in pharyngeal specimens (mean cycle threshold value 23 [SD 4] vs 32 [6], absolute difference 9 [95% CI 8-10]; p<0·0001). 108 (65%) of 166 MSM reported anal-receptive sex. MSM who engaged in anal-receptive sex presented with proctitis (41 [38%] of 108 vs four [7%] of 58, absolute difference 31% [95% CI 19-44]; p<0·0001) and systemic symptoms before the rash (67 [62%] vs 16 [28%], absolute difference 34% [28-62]; p<0·0001) more frequently than MSM who did not engage in anal-receptive sex. 18 (95%) of 19 participants with tonsillitis reported practising oral-receptive sex. The median time from onset of lesions to formation of a dry crust was 10 days (IQR 7-13). INTERPRETATION: In our cohort, monkeypox caused genital, perianal, and oral lesions and complications including proctitis and tonsillitis. Because of the variability of presentations, clinicians should have a low threshold for suspicion of monkeypox. Lesion swabs showed the highest viral loads, which, combined with the history of sexual exposure and the distribution of lesions, suggests close contact is probably the dominant transmission route in the current outbreak. FUNDING: None