40 research outputs found
One-step in vitro generation of ETV2-null pig embryos
Each year, tens of thousands of people worldwide die of end-stage organ failure due to the limited availability of organs for use in transplantation. To meet this clinical demand, one of the last frontiers of regenerative medicine is the generation of humanized organs in pigs from pluripotent stem cells (PSCs) via blastocyst complementation. For this, organ-disabled pig models are needed. As endothelial cells (ECs) play a critical role in xenotransplantation rejection in every organ, we aimed to produce hematoendothelial-disabled pig embryos targeting the master transcription factor ETV2 via CRISPR-Cas9-mediated genome modification. In this study, we designed five different guide RNAs (gRNAs) against the DNA-binding domain of the porcine ETV2 gene, which were tested on porcine fibroblasts in vitro. Four out of five guides showed cleavage capacity and, subsequently, these four guides were microinjected individually as ribonucleoprotein complexes (RNPs) into one-cell-stage porcine embryos. Next, we combined the two gRNAs that showed the highest targeting efficiency and microinjected them at higher concentrations. Under these conditions, we significantly improved the rate of biallelic mutation. Hence, here, we describe an efficient one-step method for the generation of hematoendothelial-disabled pig embryos via CRISPR-Cas9 microinjection in zygotes. This model could be used in experimentation related to the in vivo generation of humanized organs
Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood
BackgroundDyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of DC through a cohort of patients diagnosed in childhood and followed up for a long period of time.Material and methodsMulticenter, retrospective, longitudinal study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020).ResultsFourteen patients were diagnosed with DC between the ages of 3 and 17 years (median, 8.5 years). They all had hematologic manifestations at diagnosis, and nine developed mucocutaneous manifestations during the first decade of life. Seven presented severe DC variants. All developed non-hematologic manifestations during follow-up. Mutations were identified in 12 patients. Thirteen progressed to bone marrow failure at a median age of 8 years [range, 3–18 years], and eight received a hematopoietic stem cell transplant. Median follow-up time was 9 years [range, 2–24 years]. Six patients died, the median age was 13 years [range, 6–24 years]. As of November 2022, eight patients were still alive, with a median age of 18 years [range, 6–32 years]. None of them have developed myeloblastic syndrome or cancer.ConclusionsDC was associated with high morbidity and mortality in our series. Hematologic manifestations appeared early and consistently. Non-hematologic manifestations developed progressively. No patient developed cancer possibly due to their young age. Due to the complexity of the disease multidisciplinary follow-up and adequate transition to adult care are essential
Strategic Recommendations for the Transnational Management of Invasive Alien Crayfish and Crabs in Iberian Inland Waters
An important goal of LIFE INVASAQUA is to develop tools that will improve management and increase the efficiency of the Early Warning and Rapid Response framework for Invasive Alien Species (IAS) in the Iberian Peninsula. We developed a participative process with experts in order to obtain Strategic Recommendations for the
transnational management of invasive alien crayfish and crabs in inland waters of Spain and Portugal. They promote the coordinated management between Spain and Portugal, in order to facilitate implementation of international commitments and best practices and to support development of policies and targets on IAS management
at Iberian scale. They were designed to serve as a guiding tool seeking to identify a strategic direction for the
Spanish and Portuguese governance that is already being developed. The resulting Strategic Recommendations
are important tools supporting the implementation of the IAS EU Regulation. Ultimately, the information included can be used for achieving the target of the EU Biodiversity Strategy to 2030 for combatting IAS, and also for
implementing of other EU policies with requirements on alien species, such as the Birds and Habitats Directives,
and the Marine Strategy and Water Framework Directives
A horizon scan exercise for aquatic invasive alien species in Iberian inland waters
As the number of introduced species keeps increasing unabatedly, identifying and prioritising current and potential Invasive Alien Species (IAS) has become essential to manage them. Horizon Scanning (HS), defined as an exploration of potential threats, is considered a fundamental component of IAS management. By combining scientific knowledge on taxa with expert opinion, we identified the most relevant aquatic IAS in the Iberian Peninsula, i.e., those with the greatest geographic extent (or probability of introduction), severe ecological, economic and human health impacts, greatest difficulty and acceptability of management. We highlighted the 126 most relevant IAS already present in Iberian inland waters (i.e., Concern list) and 89 with a high probability of being introduced in the near future (i.e., Alert list), of which 24 and 10 IAS, respectively, were considered as a management priority after receiving the highest scores in the expert assessment (i.e., top-ranked IAS). In both lists, aquatic IAS belonging to the four thematic groups (plants, freshwater invertebrates, estuarine invertebrates, and vertebrates) were identified as having been introduced through various pathways from different regions of the world and classified according to their main functional feeding groups. Also, the latest update of the list of IAS of Union concern pursuant to Regulation (EU) No 1143/2014 includes only 12 top-ranked IAS identified for the Iberian Peninsula, while the national lists incorporate the vast majority of them. This fact underlines the great importance of taxa prioritisation exercises at biogeographical scales as a step prior to risk analyses and their inclusion in national lists. This HS provides a robust assessment and a cost-effective strategy for decision-makers and stakeholders to prioritise the use of limited resources for IAS prevention and management. Although applied at a transnational level in a European biodiversity hotspot, this approach is designed for potential application at any geographical or administrative scale, including the continental one
Awareness and Prevention of Aquatic Invasive Alien Species in the Iberian Peninsula by LIFE INVASAQUA: Midterm Outcomes
The Iberian society has a limited understanding of the threats posed by invasive alien species (IAS) in aquatic ecosystems. This lack of knowledge and awareness about IAS problems hampers any management policy proposed by public administration and stakeholders, contributing to missing an IAS management strategy. We present the midterm outcomes of the Environmental Governance and Information LIFE project—LIFE INVASAQUA—that will run between 2018 and 2023 in the Iberian Peninsula. The main goal of INVASQUA is to increase the Iberian public and stakeholders’ awareness of aquatic IAS problems and to develop tools that will improve an efficient early warning and rapid response (EWRR) framework for new IAS in freshwater and estuarine habitats in the Iberian Peninsula. We focus on new challenges and outcomes of the project to explore some of the problems and solutions encountered in the project implementation
Taming the terminological tempest in invasion science
\ua9 2024 The Authors. Biological Reviews published by John Wiley & Sons Ltd on behalf of Cambridge Philosophical Society. Standardised terminology in science is important for clarity of interpretation and communication. In invasion science – a dynamic and rapidly evolving discipline – the proliferation of technical terminology has lacked a standardised framework for its development. The result is a convoluted and inconsistent usage of terminology, with various discrepancies in descriptions of damage and interventions. A standardised framework is therefore needed for a clear, universally applicable, and consistent terminology to promote more effective communication across researchers, stakeholders, and policymakers. Inconsistencies in terminology stem from the exponential increase in scientific publications on the patterns and processes of biological invasions authored by experts from various disciplines and countries since the 1990s, as well as publications by legislators and policymakers focusing on practical applications, regulations, and management of resources. Aligning and standardising terminology across stakeholders remains a challenge in invasion science. Here, we review and evaluate the multiple terms used in invasion science (e.g. ‘non-native’, ‘alien’, ‘invasive’ or ‘invader’, ‘exotic’, ‘non-indigenous’, ‘naturalised’, ‘pest’) to propose a more simplified and standardised terminology. The streamlined framework we propose and translate into 28 other languages is based on the terms (i) ‘non-native’, denoting species transported beyond their natural biogeographic range, (ii) ‘established non-native’, i.e. those non-native species that have established self-sustaining populations in their new location(s) in the wild, and (iii) ‘invasive non-native’ – populations of established non-native species that have recently spread or are spreading rapidly in their invaded range actively or passively with or without human mediation. We also highlight the importance of conceptualising ‘spread’ for classifying invasiveness and ‘impact’ for management. Finally, we propose a protocol for classifying populations based on (i) dispersal mechanism, (ii) species origin, (iii) population status, and (iv) impact. Collectively and without introducing new terminology, the framework that we present aims to facilitate effective communication and collaboration in invasion science and management of non-native species
Corrigendum to ‘a horizon scan exercise for aquatic invasive alien species in Iberian inland waters’
info:eu-repo/semantics/publishedVersio
Black list and Alert list of the Aquatic Invasive Alien Species in the Iberian Peninsula: an action of the LIFE INVASAQUA
Resumen del trabajo presentado en VI Congreso Nacional sobre Especies Exóticas Invasoras y I Congreso Ibérico sobre EEI (EEI 2022) celebrado en Navarra del 20 al 23 de abril de 2022.One of the objectives of LIFE INVASQUA project is to develop tools that will be more efficient the Early Warning and Rapid Response (EWRR) framework for Invasive Alien Species in the Iberian Peninsula. Horizon scanning for high-risk IAS is basic in implementing measures to reduce new invasions, developing Alert lists, and to focus effort in the species already established, for instance making a Black list. We developed a trans national horizon scanning exercise focused on inland waters of Spain and Portugal in order to provide a prioritized lists (Black list and Alert list) of aquatic IAS that may pose a threat to aquatic ecosystems and socio economic sectors in the future. We followed a step approach of existing information about IAS (Plants, Freshwater Invertebrates, Estuarine Invertebrates and Vertebrates; 127 established taxa in Black list; 90 non established taxa in Alert list) combining with an expert scoring of prioritized taxa. IAS established in the Iberian aquatic system consistently highlighted as the worst included vertebrates (e.g. Cyprinus carpio, Gambusia holbrooki, Silurus glanis), freshwater and estuarine invertebrates (e.g. Procambarus clarkii, Dreissena polymorpha, Pacifastacus leniusculus, Ficopomatus enigmaticus, Callinectes sapidus, Corbicula fluminea) and plants (e.g. Eichhornia crassipes, Azolla filiculoides, Ludwigia grandiflora). Amongst taxa not yet established (Alert list), expert pointed to Perna viridis, Hydroides dirampha, Dreissena bugensis, Procambarus fallax f. virginallis, Perccottus glenii with higher risk of invasion, ecological and socioeconomic impacts. Over 20.6% of the taxa in the preliminary black list received no votes (no prioritization) by experts, 17.8% in the innitial alert list. Our horizon scanning approach is inclusive of all-taxa, prioritizes both established and emerging biological threats across trans-national scales, and considers not only the ecological impact, but also potential direct economic consequences as well as the manageability of invasive species.This work received funds from the LIFE Programme (LIFE17 GIE/ES/000515)
LISTA NEGRA Y LISTA DE ALERTA DE ESPECIES EXÓTICAS INVASORAS ACUÁTICAS DE LA PENÍNSULA IBÉRICA - Ejercicio de exploración del horizonte transnacional centrado en las especies exóticas invasoras acuáticas de alto riesgo para las aguas interiores ibéricas.
Un objetivo importante de LIFE INVASAQUA es desarrollar herramientas que mejoren la gestión y sean más eficientes en el marco de Alerta Temprana y Respuesta Rápida (EWRR) para las Especies Exóticas Invasoras (EEI)
en la Península Ibérica. La exploración del horizonte para las EEI de alto riesgo es básica para aplicar medidas
que reduzcan las nuevas invasiones y para centrar los esfuerzos en las especies ya registradas. Desarrollamos
un ejercicio transnacional de exploración del horizonte centrado en las aguas interiores de España y Portugal
con el fin de proporcionar una lista negra de las EEI acuáticas actualmente establecidas y una lista de alerta de
las EEI acuáticas potenciales que pueden suponer una amenaza para los ecosistemas acuáticos y los sectores
socioeconómicos en el futuro. Para la exploración del horizonte seguimos un enfoque estructurado de 5 pasos
que combinaba las pruebas existentes sobre las EEI con una puntuación de expertos de los taxones priorizados.
En la lista negra final se priorizaron 126 EEI, que representan el 41,2% de los taxones exóticos registrados en las
aguas continentales ibéricas. Las 24 primeras especies tenían un riesgo de impacto muy alto porque obtuvieron
los valores máximos en el proceso de puntuación de la evaluación de riesgos. Además, la lista de alerta incluía 89
EEI con un riesgo significativo de invasión en la Península Ibérica en el futuro, estando 11 taxones en cabeza con
un riesgo muy alto de invasión