Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

Purpose: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. Methods: Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper Biotech, and by the directed genomic sequencing of BEST1. Results: Two homozygous mutations were detected in these families. Mutation c.936C>A (p.Asp312Glu) has been reported previously in a Danish family; here, we describe four additional individuals in this family demonstrating findings compatible with a severe dominant BVMD, albeit with reduced penetrance in heterozygotes. In the Spanish family, a novel homozygous missense mutation in exon 4, c. 388 C>A (p.Arg130Ser), was identified in the siblings. Homozygous siblings demonstrated evidence of multifocal vitelliform retinopathy, whereas heterozygous family members presented findings ranging from isolated reduction of the electrooculogram Arden ratio to normal values on all clinical parameters. Conclusions: As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy

Diversity and abundance of planktonic communities in the deep waters off the galician coast (NW Spain)

Comunicación oralPlanktonic communities play pivotal roles within marine ecosystems, affecting their structure, functioning and services. Although they have been extensively studied in the epipelagic ocean, the knowledge about these communities in the dark ocean is rather short. In this study, we explored patterns of abundance and biomass of a wide variety of taxonomic groups from the prokaryotes to mesozooplankton in the epi-, meso- and bathypelagic waters off the Galician coast. As expected, ciliate and zooplankton abundances are depleted in the bathypelagic waters relative to abundances of prokaryotes and nanoflagellates. The rate of decrease of zooplankton biomass with depth is twice as that of prokaryotes and nanoflagellates, indicating that relative contribution of mesozooplancton to the total plankton biomass decreases with depth. Overall, the diversity of prokaryotes in the dark ocean is almost as high as in the epipelagic layer, although the phylotypes are different. The major fraction of epipelagic ciliates belongs to alloricate genera, whereas tintinnids dominate the deep ciliate populations. Small copepods were dominant in the epi- and meso-pelagic zone. By contrast, foraminiferans, big copepods and myctophic fishes were more abundant in the deep ocean

México, integración y globalización ¿Antecedentes de un nuevo modelo de desarrollo?

Presentamos en este volumen la Memoria del Seminario México: integración y globalización ¿Antecedentes de un nuevo modelo de desarrollo? que la Asociación de Licenciadas en Economía, cuyos objetivos son académicos con base en la pluralidad, tuvo a bien convocar dentro de su plan de trabajo 1991-1993 para discutir los cambios en el proceso productivo en el marco de la globalización. El TLC, la apertura financiera, la reestructuración industrial, la privatización del sector público y las reformas de Estado caracterizan al México de hoy, muy diferente al de solo unos años. México termina el siglo XX viviendo los antecedentes de un nuevo modelo de desarrollo que regirá la primera mitad del siglo XXI y los albores del tercer mileni

Characterization of a winter upwelling event in the Northern Galician Rias

II International Symposium in Marine Sciences = II Simposio internacional de Ciencias del Mar, Vigo, 27-30 abril 2009N

Eligibility criteria for Menopausal Hormone Therapy (MHT): a position statement from a consortium of scientific societies for the use of MHT in women with medical conditions. MHT Eligibility Criteria Group

This project aims to develop eligibility criteria for menopausal hormone therapy (MHT). The tool should be similar to those already established for contraception A consortium of scientific societies coordinated by the Spanish Menopause Society met to formulate recommendations for the use of MHT by women with medical conditions based on the best available evidence. The project was developed in two phases. As a first step, we conducted 14 systematic reviews and 32 metanalyses on the safety of MHT (in nine areas: age, time of menopause onset, treatment duration, women with thrombotic risk, women with a personal history of cardiovascular disease, women with metabolic syndrome, women with gastrointestinal diseases, survivors of breast cancer or of other cancers, and women who smoke) and on the most relevant pharmacological interactions with MHT. These systematic reviews and metanalyses helped inform a structured process in which a panel of experts defined the eligibility criteria according to a specific framework, which facilitated the discussion and development process. To unify the proposal, the following eligibility criteria have been defined in accordance with the WHO international nomenclature for the different alternatives for MHT (category 1, no restriction on the use of MHT; category 2, the benefits outweigh the risks; category 3, the risks generally outweigh the benefits; category 4, MHT should not be used). Quality was classified as high, moderate, low or very low, based on several factors (including risk of bias, inaccuracy, inconsistency, lack of directionality and publication bias). When no direct evidence was identified, but plausibility, clinical experience or indirect evidence were available, "Expert opinion" was categorized. For the first time, a set of eligibility criteria, based on clinical evidence and developed according to the most rigorous methodological tools, has been defined. This will provide health professionals with a powerful decision-making tool that can be used to manage menopausal symptoms

Luz / LLum

En aquest quart volum, gran diversitat d'autores i autors aporten píndoles de microliteratura, de gèneres variats, amb què l'Institut Universitari d'Estudis Feministes i de Gènere Purificación Escribano vol respondre al desafiament per l'eradicació de la violència contra les dones

The evolution of the ventilatory ratio is a prognostic factor in mechanically ventilated COVID-19 ARDS patients

Background: Mortality due to COVID-19 is high, especially in patients requiring mechanical ventilation. The purpose of the study is to investigate associations between mortality and variables measured during the first three days of mechanical ventilation in patients with COVID-19 intubated at ICU admission. Methods: Multicenter, observational, cohort study includes consecutive patients with COVID-19 admitted to 44 Spanish ICUs between February 25 and July 31, 2020, who required intubation at ICU admission and mechanical ventilation for more than three days. We collected demographic and clinical data prior to admission; information about clinical evolution at days 1 and 3 of mechanical ventilation; and outcomes. Results: Of the 2,095 patients with COVID-19 admitted to the ICU, 1,118 (53.3%) were intubated at day 1 and remained under mechanical ventilation at day three. From days 1 to 3, PaO2/FiO2 increased from 115.6 [80.0-171.2] to 180.0 [135.4-227.9] mmHg and the ventilatory ratio from 1.73 [1.33-2.25] to 1.96 [1.61-2.40]. In-hospital mortality was 38.7%. A higher increase between ICU admission and day 3 in the ventilatory ratio (OR 1.04 [CI 1.01-1.07], p = 0.030) and creatinine levels (OR 1.05 [CI 1.01-1.09], p = 0.005) and a lower increase in platelet counts (OR 0.96 [CI 0.93-1.00], p = 0.037) were independently associated with a higher risk of death. No association between mortality and the PaO2/FiO2 variation was observed (OR 0.99 [CI 0.95 to 1.02], p = 0.47). Conclusions: Higher ventilatory ratio and its increase at day 3 is associated with mortality in patients with COVID-19 receiving mechanical ventilation at ICU admission. No association was found in the PaO2/FiO2 variation

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Plan gallego de hospitalización a domicilio. Estrategia HADO 2019-2023

Documento estratéxico que pretende potenciar e consolidar a hospitalización a domicilio como un modelo asistencial do Servizo Galego de Saúde e garantir o seu desenvolvemento nos próximos seis anos, establecendo criterios homoxéneos de atención coa finalidade de normalizar os modelos asistenciais, carteira de servizos e fluxos de traballo para asegurar una asistencia sanitaria de calidadeDocumento estratégico que pretende potenciar y consolidar la hospitalización a domicilio como un modelo asistencial del Servicio Gallego de Salud y garantizar su desarrollo en los próximos seis años, estableciendo criterios homogéneos de atención con la finalidad de normalizar los modelos asistenciales, cartera de servicios y flujos de trabajo para asegurar una asistencia sanitaria de calida