Influence of Regulated Deficit Irrigation on Arbequina’s Crop Yield and EVOOs Quality and Sensory Profile

Regulated deficit irrigation in super-high-density (SHD) olive orchards is a well-known strategy to save water and control plant vigor, without decreasing fruit or oil yield. As there is controversial information about its influence on virgin olive oil quality, a trial was conducted in five SHD olive orchards of Arbequina cultivar in different locations of central, east, north and northeast Spain under full irrigation (FI) and regulated deficit irrigation (RDI) treatments. RDI applied during phase II of fruit growing (40% of total needs) saves more than 20% of water on average, without reductions in olive fruit or extra virgin olive oil (EVOO) yield. No threshold of 3.5 MPa of stem water potential was crossed in any case. RDI modified sterols and the fatty acid profile of EVOOs but not phenols, quality parameters, or the sensory profile. Latitude, altitude, and yearly rainfall have a big impact on some compounds such as campesterol, oleuropein, or margaroleic or linolenic acids

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)

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

Mecanisme d'activació de fibronectina i LEF1 per Snail1 durant la transició epili-mesènquima

La transició Epiteli-Mesènquima es dóna durant el desenvolupament embrionari i en els estadis tardans de la progressió tumoral permetent que es produeixi la metàstasi. Aquestes transicions necessiten una repressió de l'E-Cadherina i es pot reproduir en cèl·lules en cultiu amb l'expressió ectòpica de Snail1, un repressor de l'E-Cadherina. Durant la transició produïda per Snail es produeix la ràpida activació de gens mesenquimals com Fibronectina i LEF1. L'expressió forçada d'E-Cadherina fa disminuir els nivells de RNA de Fibronectina i LEF1, indicant que en l'activació d'aquests dos gens està implicat un cofactor sensible a l'E-Cadherina. En concordança, la transcripció de Fibronectina i LEF1 és depenent de -Catenina i NFB. La sobreexpressió d'E-Cadherina inhibeix l'activitat transcripcional d'aquests dos factors i disminueix la seva interacció amb el promotor de Fibronectina. De manera similar a la -Catenina, NFB es detecta associat a l'E-Cadherina i altres components dels contactes intercel·lulars. Quan es trenquen les unions adherents, com quan es sobreexpressa Snail, la interacció E-Cadherina-NFB disminueix i augmenta l'activitat transcripcional de NFB i-Catenina.Epithelial to mesenchymal transitions takes place during embryo development and in the late stages of tumorigenesis allowing metastasis formation. These transitions require E-Cadherin downregulation and can be reproduced in cell culture by ectopic expression of Snail1, an E-Cadherin gene repressor. During Snail-induced transition a rapid upregulation of mesenchymal genes such as Fibronectin and LEF1 has been characterized. Forced expression of E-Cadherin strongly down-regulates Fibronectin and LEF1 RNA levels, indicating that an E-Cadherin sensitive cofactor is involved in the activation of these genes. Accordingly, transcription of Fibronectin and LEF1 was dependent on -Catenin and NFB. E-Cadherin over-expression downregulated the transcriptional activity of both factors and decreased their interaction to Fibronectin promoter. Similarly to -Catenin, NFB was detected associated to E-Cadherin and other cell adhesion components. Association of NFB to E-Cadherin required the integrity of this complex; conditions that disrupts adherens junctions, such as Snail over-expression, decreased E-Cadherin-NFB interaction and up-regulates NFB and -Catenin transcriptional activity. Therefore, -Catenin and NFB transcriptional activities are required for expression of the studied mesenchymal genes and these activities are inactivated by immobilizing -Catenin and NFB to functional E-Cadherin structures

Manejo en atención primaria de las infecciones de transmisión sexual (I). Epidemiología. Síndrome secretor

Resumen: Actualmente las infecciones de transmisión sexual (ITS) son un problema de salud pública importante debido a su elevada prevalencia y a que precisan de un diagnóstico y un tratamiento precoces para evitar complicaciones.En los últimos años se está observando un aumento exponencial de los casos de infecciones causadas por Chlamydia trachomatis y gonococo en población menor de 25 años. También se ha detectado un aumento de la incidencia de sífilis y de hepatitis C (VHC), sobre todo en hombres que tienen sexo con hombres (HSH).El herpes genital sigue siendo la segunda ITS más frecuente en el mundo, por detrás del condiloma acuminado, y la primera causa de úlcera genital en España en la población sexualmente activa.Durante el año 2020 se observó un descenso de los casos notificados de VIH, pero casi la mitad de estos nuevos casos presentaban un diagnóstico tardío (< 350 CD4 cel/μl).Las guías actuales recomiendan ofrecer anualmente el cribado de ITS a las poblaciones de riesgo y más frecuentemente en función de dicho riesgo.Las ITS pueden presentarse, entre otras, en forma de síndromes, como son el síndrome secretor (uretritis, proctitis, cervicitis) o el síndrome ulcerado (úlceras). Las ITS que pueden cursar con síndrome secretor están causadas principalmente por Neisseria gonorrhoeae y C. trachomatis, que infectan conjuntamente hasta en el 40% de los casos, y que producen uretritis, cervicitis o proctitis según el lugar en que se localizan.El gonococo tiene un periodo de incubación de 2 a 7 días y la clamidia de 2 a 6 semanas, y se diagnostican a través de PCR y/o cultivo (este último solo válido para gonococo) de las muestras recogidas según prácticas sexuales.El tratamiento empírico para cubrir ambos gérmenes se realizará con ceftriaxona 1 g en dosis única intramuscular más doxiciclina 100 mg cada 12 horas por vía oral durante 7 días o azitromicina 1 g en dosis única por vía oral (utilizaremos azitromicina solo si sospechamos que el paciente va a ser mal cumplidor del tratamiento, si hay dificultad para acudir al control o en el embarazo).Así mismo, siempre que se diagnostique una ITS debe ofrecerse consejo y educación sanitaria para la adopción de conductas sexuales seguras y para la utilización de métodos barrera de manera correcta. Debe realizarse también un cribado de otras ITS (VIH, sífilis, hepatitis B y hepatitis A y C, según riesgo), ofrecer vacunación de VHB y VHA si procede, y estudiar y tratar todas las parejas sexuales de los 3 meses anteriores. Abstract: These days sexually transmitted infections (STIs) are important public health problems not only due to their high prevalence, but also because they require early diagnosis and treatment to avoid complications.In recent years, there has been an exponential increase in cases of infections caused by Chlamydia trachomatis and gonococcus in the population under 25 years of age. In addition, an increase in the incidence of syphilis and hepatitis C (HCV) has also been detected, especially in men who have sex with other men (MSM).Genital herpes continues to be the second most frequent STI in the world, behind condyloma acuminata, and the first cause of genital ulcer among Spain in the sexually active population.A decrease in reported HIV cases was observed during 2020, but almost half of these new cases had a late diagnosis (< 350 CD4 cell/μL).Current guidelines recommend offering STI annual screening to populations at risk or more often depending on the risk.STIs can appear in the form of syndromes, such as secretory syndrome (urethritis, proctitis, and cervicitis) or ulcerated syndrome (ulcers). The STIs that can cause secretory syndrome are mainly caused by Neisseria gonorrhoeae and C. trachomatis, which co-infect up to 40% of cases, and also cause urethritis, cervicitis or proctitis depending on where they are located.Gonococcus has an incubation period of 2-7 days and Chlamydia 2-6 weeks, and they are diagnosed using PCR and/or culture (the last one only valid for gonococcus) of samples collected according to sexual activities.Empirical treatment to cover both germs will be accomplished with ceftriaxone, 1 g single intramuscular dose plus doxycycline 100 mg every 12 h orally for 7 days, or azithromycin 1 g single dose orally (we will use azithromycin only if we suspect a poor compliance with treatment, difficulty in going to the control or in pregnancy).Likewise, whenever we diagnose an STI firstly, we must offer advice and health education in order to promote the adoption of safe sexual behaviours and the correct use of barrier methods. Secondly, we must also screen for other STIs (HIV, syphilis, hepatitis B, and hepatitis A and C depending on the risk), offer HBV and HAV vaccination if it is appropriate, and finally study and treat all sexual partners from the previous 3 months

The role of socio-demographic determinants in the geo-spatial distribution of newly diagnosed HIV infections in small areas of Catalonia (Spain)

Background: Spatial visualization of HIV surveillance data could improve the planning of programs to address the HIV epidemic. The objectives of the study were to describe the characteristics and the spatial distribution of newly diagnosed HIV infection in Catalonia and to identify factors associated with HIV infection rates. Methods: Surveillance data from the national registry were presented in the form of descriptive and ring maps and used to study the spatial distribution of new HIV diagnoses in Catalonia (2012–2016) and associated risk factors at the small area level (ABS, acronym for “basic health area” in Catalan). Incident cases were modeled using the following as predictors: type of municipality, prevalence of young men and migrant groups, GBMSM activity indicators, and other variables at the aggregated level. Results: New HIV diagnoses are heterogeneously distributed across Catalonia. The predictors that proved to be significantly associated with a higher rate of new HIV diagnoses were ABS located in the city of Barcelona (IRR, 2.520; P < 0.001), a higher proportion of men aged 15–44 years (IRR, 1.193; P = 0.003), a higher proportion of GBMSM (IRR, 1.230; P = 0.030), a higher proportion of men from Western Europe (IRR, 1.281; P = 0.003), a higher proportion of men from Latin America (IRR, 1.260; P = 0.003), and a higher number of gay locations (IRR, 2.665; P < 0.001). No association was observed between the HIV diagnosis rate and economic deprivation. Conclusions: Ring maps revealed substantial spatial associations for the rate of new HIV diagnoses. New HIV diagnoses are concentrated in ABS located in urban areas. Our results show that, in the case of HIV infection, the socioeconomic deprivation index on which the Catalan government bases its budget allocation policies among the ABS should not be the only criterion used

Influence of Regulated Deficit Irrigation on Arbequina’s Crop Yield and EVOOs Quality and Sensory Profile

Regulated deficit irrigation in super-high-density (SHD) olive orchards is a well-known strategy to save water and control plant vigor, without decreasing fruit or oil yield. As there is controversial information about its influence on virgin olive oil quality, a trial was conducted in five SHD olive orchards of Arbequina cultivar in different locations of central, east, north and northeast Spain under full irrigation (FI) and regulated deficit irrigation (RDI) treatments. RDI applied during phase II of fruit growing (40% of total needs) saves more than 20% of water on average, without reductions in olive fruit or extra virgin olive oil (EVOO) yield. No threshold of 3.5 MPa of stem water potential was crossed in any case. RDI modified sterols and the fatty acid profile of EVOOs but not phenols, quality parameters, or the sensory profile. Latitude, altitude, and yearly rainfall have a big impact on some compounds such as campesterol, oleuropein, or margaroleic or linolenic acids

Monitorización y evaluación del vih en Cataluña, cada vez más cerca de los objetivos 90-90-90

Background: Epidemiological surveillance of HIV infection allows monitoring its incidence as well as possible epidemiological changes, allowing specific interventions to be planned and their impact monitored. The objective of this article is to describe the results of the monitoring and evaluation of the response to the HIV epidemic in Catalonia, based on data included in the Integrated System of Epidemiological Surveillance of AIDS/HIV and Sexually Transmitted Infections of Catalonia (SIVES). Methods: A descriptive analysis of the data from the different sources of information of the SIVES was performed. The time period was defined based on the availability of data from each of the sources of information included in the analysis. The information was structured according to the conceptual representation of the cascade of HIV care, as described in the World Health Organization consolidated strategic information guidelines for HIV. Results: Of the total of 4,849 new diagnoses notified (2012- 2018), 86% were men, of these; the most frequently reported transmission group was men having sex with men with 65%. The trend in the number of new diagnoses decreased in all transmission groups. It is estimated that in 2018 there were 32,429 people living with HIV in Catalonia, of which 89% were diagnosed, of these, 83% were under follow-up in a specialized unit and 78% of them were under treatment. 73% of people in treatment had suppressed the viral load. Conclusions: SIVES as an integrated system of different sources of strategic information allows monitoring the HIV epidemic in Catalonia and evaluating the response to it, identifying key populations and determinants to acquire HIV, as well as the barriers to which people living with HIV they face to achieve viral suppression.Fundamentos: La vigilancia epidemiológica de la infección por el VIH permite monitorizar su incidencia así como eventuales cambios epidemiológicos, permitiendo planificar intervenciones específicas y monitorizar su impacto. El objetivo de este artículo fue describir los resultados de la monitorización y evaluación de la respuesta a la epidemia del VIH en Cataluña, a partir de los datos incluidos en el Sistema Integrado de Vigilancia Epidemiológica del Sida/VIH e Infecciones de transmisión sexual de Cataluña (SIVES). Métodos: Se realizó un análisis descriptivo de los datos de las diferentes fuentes de información del SIVES. El periodo de tiempo se definió a partir de la disponibilidad de los datos de cada una de las fuentes de información incluidas en el análisis. La información se estructuró de acuerdo a la representación conceptual de la cascada de diagnóstico y tratamiento de VIH, tal y como se describe en las directrices de información estratégica consolidada de la Organización Mundial de la Salud para el VIH. Resultados: Del total de 4.849 nuevos diagnósticos notificados (2012-2018), el 86% eran hombres. De estos, el grupo de transmisión informado más frecuente fueron los hombres que tiene sexo con hombres con un 65%. La tendencia del número de nuevos diagnósticos descendió en todos los grupos de transmisión. Se estima que en 2018 había 32.429 personas viviendo con el VIH en Cataluña, de las cuales el 89% estaban diagnosticadas. De estas, el 83% estaban en seguimiento en una unidad especializada, y el 78% de ellas estaban en tratamiento. El 73% de las personas en tratamiento tenían la carga viral suprimida. Conclusiones: El SIVES, como sistema integrado de diferentes fuentes de información estratégica, permite monitorizar la epidemia del VIH en Cataluña y evaluar la respuesta a la misma, identificando poblaciones claves y determinantes para adquirir el VIH, así como las barreras a las que se enfrentan las personas que viven con VIH para lograr a supresión viral