Nuevas observaciones sobre la fenología y distribución espacial de los artrópodos en el dosel y sotobosque de un rodal mixto mediterráneo (Collserola, Cataluña), con énfasis en Diptera e Hymenoptera

This work is part of permanent monitoring that has been conducted since 2009 in the Serra de Collserola Natural Park, and focuses on the activities of families of Diptera and Hymenoptera sampled in a Mediterranean mixed forest of Pinus-Quercus. From April to October of 2012, samples were taken in the canopy and understory, with a total of 7789 specimens with Diptera (1393; 17.9 %) and Hymenoptera (1039; 13.3 %) among the dominant groups. We found a clear stratification of arthropods, where the canopy showed not only as the layer where the bulk of the activity takes place, but also as the most biodiverse stratum. These results contrast with previous studies in the same area where the understory played a dominant role compared to the canopy. The differences between the results of the first study and those obtained in this study show the need to focus attention on the various factors that influence the activity of arthropods between strata with full and partial sun exposure.El presente trabajo es una continuación del monitoreo permanente que se viene realizando desde 2009 en el Parc Natural de la Serra de Collserola, y se centra en la actividad de las familias de Diptera e Hymenoptera muestreadas en un bosque mixto mediterráneo Pinus- Quercus. De abril a octubre de 2012 se realizaron muestreos en el dosel y sotobosque, con un total de 7789 especímenes muestreados y resultando Diptera (1393; 17,9%) e Hymenoptera (1039; 13,3%) entre los grupos dominantes en el área. Se encontró una clara estratificación de la fauna, donde el dosel se mostró no solo como el estrato donde se desarrolla el mayor volumen de la actividad de los artrópodos, sino también como el estrato más biodiverso. Estos resultados contrastan con estudios realizados anteriormente en la misma área, donde el sotobosque jugaba un papel dominante sobre el dosel. Las diferencias entre los resultados del primer estudio y los obtenidos en este trabajo evidencian la necesidad de focalizar la atención hacia los diversos factores que marcan la actividad de los artrópodos entre estratos con exposición solar total y parcial

Regional dynamic co-management for sustainable fisheries and ecosystem conservation: a pilot analysis in the Catalan Sea

The complexity of coastal fisheries, which often involve many gears with cross-impacts on various species and life stages, requires a management system that is able to integrate these multiple interactions in order to gradually achieve sustainability. In this paper, we argue that regional co-management can appropriately address the complex interactions between fisheries, including those with other potentially conflicting human activities. Our results, notably obtained through a questionnaire to local fishers’ representatives mainly on bottom trawl fisheries in the Catalan Sea region, show, however, that improved mutual understanding through effective communication and long-term collaboration between stakeholders, and in particular between fishers and scientists, is essential to ensure the successful implementation of fisheries co-management. In addition to balancing the voices of the many stakeholders, co-management needs to be further improved by developing multi-species, multi-gear and multi-use approaches to the oceans. This improvement could in turn support the effectiveness of co-decisions, as they would be based on the recognised administrative structure of co-management committees and sound scientific guidance that addresses both ecosystem protection and sustainable fisheries profitability. Dynamic management over time and space, using real-time essential fish habitat from operational oceanography, can help to make the co-management process more robust by improving collaboration between stakeholders and the effectiveness of measures in a changing environment. The decision-making, social and ecological components are described as integral and dependent parts of the co-management system, with priority given to mutual understanding between stakeholders. This integrated co-management framework is flexible enough to take into account regional complexity, but also national legislation and the EU Common Fisheries Policy, which all promote sustainable use of the oceans and protection of the ecosystem

Nuevas observaciones sobre la fenología y distribución espacial de los artrópodos en el dosel y sotobosque de un rodal mixto mediterráneo (Collserola, Cataluña), con énfasis en Diptera e Hymenoptera

El presente trabajo es una continuación del monitoreo permanente que se viene realizando desde 2009 en el Parc Natural de la Serra de Collserola, y se centra en la actividad de las familias de Diptera e Hymenoptera muestreadas en un bosque mixto mediterráneo Pinus- Quercus. De abril a octubre de 2012 se realizaron muestreos en el dosel y sotobosque, con un total de 7789 especímenes muestreados y resultando Diptera (1393; 17,9%) e Hymenoptera (1039; 13,3%) entre los grupos dominantes en el área. Se encontró una clara estratificación de la fauna, donde el dosel se mostró no solo como el estrato donde se desarrolla el mayor volumen de la actividad de los artrópodos, sino también como el estrato más biodiverso. Estos resultados contrastan con estudios realizados anteriormente en la misma área, donde el sotobosque jugaba un papel dominante sobre el dosel. Las diferencias entre los resultados del primer estudio y los obtenidos en este trabajo evidencian la necesidad de focalizar la atención hacia los diversos factores que marcan la actividad de los artrópodos entre estratos con exposición solar total y parcial.This work is part of permanent monitoring that has been conducted since 2009 in the Serra de Collserola Natural Park, and focuses on the activities of families of Diptera and Hymenoptera sampled in a Mediterranean mixed forest of Pinus-Quercus. From April to October of 2012, samples were taken in the canopy and understory, with a total of 7789 specimens with Diptera (1393; 17.9 %) and Hymenoptera (1039; 13.3 %) among the dominant groups. We found a clear stratification of arthropods, where the canopy showed not only as the layer where the bulk of the activity takes place, but also as the most biodiverse stratum. These results contrast with previous studies in the same area where the understory played a dominant role compared to the canopy. The differences between the results of the first study and those obtained in this study show the need to focus attention on the various factors that influence the activity of arthropods between strata with full and partial sun exposure

Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy

De novo rare damaging variants in genes involved in critical developmental pathways, notably regulation of synaptic transmission, have emerged as a frequent cause of neurodevelopmental disorders (NDD). NDD show great locus heterogeneity and for many of the associated genes, there is substantial phenotypic diversity, including epilepsy, intellectual disability, autism spectrum disorder, movement disorders, and combinations thereof. We report two unrelated patients, a young girl with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and a second girl with mild dysmorphism, global developmental delay, and moderate intellectual disability in whom trio-based whole-exome sequencing analysis uncovered de novo missense variants in CHRM1. Biochemical analyses of one of the NDD-associated variants proved that it caused a reduction in protein levels and impaired cellular trafficking. In addition, the mutated receptor showed defective activation of intracellular signaling pathways. Our data strengthen the concept that brain-reduced muscarinic signaling lowers the seizure threshold and severely impairs neurodevelopment

COVID-19 lockdown moderately increased oligotrophy at a marine coastal site

8 pages, 4 figures, 2 figures, supplementary figures https://doi.org/10.1016/j.scitotenv.2021.151443.COVID-19 has led to global population lockdowns that have had indirect effects on terrestrial and marine fauna, yet little is known on their effects on marine planktonic communities. We analysed the effect of the spring 2020 lockdown in a marine coastal area in Blanes Bay, NW Mediterranean. We compared a set of 23 oceanographic, microbial and biogeochemical variables sampled right after the strict lockdown in Spain, with data from the previous 15 years after correcting for long-term trends. Our analysis shows a series of changes in the microbial communities which may have been induced by the combination of the decreased nitrogen atmospheric load, the lower wastewater flux and the reduced fishing activity in the area, among other factors. In particular, we detected a slight decrease beyond the long-term trend in chlorophyll a, in the abundance of several microbial groups (phototrophic nanoflagellates and total prokaryotes) and in prokaryotic activity (heterotrophic prokaryotic production and β-glucosidase activity) which, as a whole, resulted in a moderate increase of oligotrophy in Blanes Bay after the lockdown.Data from the specific sampling in 2020 were supported by the MIAU project of the Spanish Ministerio de Ciencia e Innovación, MICINN (RTI2018-101025-B-I00), while previous years were supported by many Spanish and EU projects. Other projects of the MICINN also supported this research: DOGMA (PID2020-112653GB-I00), DIVAS (PID2019-108457RB-I00), and HICCUP (RTI2018-095083-B-I00). We thank Amanda Con and Juan Rodríguez for providing data of the Blanes WWTP. We sincerely thank Irene Forn, Carolina Antequera, Arturo Lucas, Elisabet Laia Sà and Vanessa Balagué for their invaluable laboratory work. The work of the authors was supported by Generalitat de Catalunya Grups de Recerca Consolidats 2017SGR1568 and 2017SGR1011. This study acknowledges institutional support from the “Severo Ochoa Centre of Excellence” accreditation (CEX2019-000928-S).Peer reviewe

Leigh syndrome associated with TRMU gene mutations

Insuficiència hepàtica aguda: Síndrome de Leigh; TRMUInsuficiencia hepática aguda; Síndrome de Leigh; TRMUAcute liver failure; Leigh syndrome; TRMUtRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease.This work was partially supported by the Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias and cofounded with ERDF funds (Grant No. FIS PI15/01428, PI19/01772)

Leigh Syndrome Associated with TRMU Gene Mutations

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU diseaseThe Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), is an initiative of the Instituto de Salud Carlos III (Ministerio de Ciencia e Innovacion, Spain). This study was supported by the Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) (2014: SGR 393) and the CERCA Programme/Generalitat de Catalunya. The present study was supported by the Department de Salut, Generalitat de Catalunya (URDCAT project, SLT002/16/00174

Leigh syndrome associated with TRMU gene mutations

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease

Fishing for litter, accidental catch in bottom trawl nets along the Catalan coast, Northwestern Mediterranean

8 pages, 6 figures, 1 table, supplementary material https://doi.org/10.1016/j.wasman.2023.05.021.-- Data availability: Data will be made available on requestThe seafloor of the Mediterranean Sea accumulates marine litter (ML), an area where bottom trawlers operate and can accidentally catch the litter from the seafloor. This study aims to describe and quantify the ML caught by bottom trawlers along the Catalan coast (NW Mediterranean Sea) and estimate the potential of the bottom trawl fleet to extract ML from the area as a Fishing for Litter (FFL) initiative to tackle the ML issue. Marine litter was collected from commercial trawlers and was classified as metal, plastic, rubber, textile, wood, and other waste and weighed (kg) from 305 hauls performed during three years (2019–2021) from 9 different ports at 3 different depths. ML was present in 97 % of the hauls, with plastic being the most abundant material. The composition varied according to zone, port and depth, with the highest densities found in highly urbanized areas (13.75 ± 3.25 kg km−2), which mainly contained plastics (74.3 %). The port of Barcelona had the highest presence of plastics (23.62 ± 6.49 kg km−2), mainly wet wipes. Regarding depth, the continental shelf had the highest density of ML, with 12.24 ± 2.40 kg km−2. The potential ML removal (t year−1) was calculated using fishing effort (hours). It is estimated that the bottom trawlers may potentially remove 237 ± 36 t year−1 of ML in the Catalan coast. FFL initiatives should be part of a multidisciplinary approach to tackle marine litter, which must include prevention, monitoring, and cleaning actionsThis work was supported by the Catalan Institute for Ocean Governance Research (ICATMAR), trawl surveys were financed by European Maritime and Fisheries Fund (EMFF) and the Catalan General Directorate of Marine Policy and Sustainable Fisheries by projects PESCAT (ARP029/18/00003) and CGCAT (ARP140/20/000006)With the institutional support of the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2019-000928-S)Peer reviewe

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath