Gender Violence and City: Feminists Cartographies of Fear and Dread

RESUMEN: El artículo reflexiona alrededor de las preguntas ¿Cuáles son las violencias de género en el espacio público en la ciudad de Medellín? ¿De qué manera influyen las violencias hacia las mujeres y los roles de género en la apropiación y configuración de los espacios públicos de la ciudad? A través de búsquedas en la prensa, encuestas, grupos focales, historias de vida y cartografía social, se hace un retrato con perspectiva de género de la ciudad. En dicho retrato se da cuenta de los lugares temidos, los lugares prohibidos, y las prácticas y vivencias de las mujeres; así como de sus imaginarios, sus miedos, expectati-vas y frustraciones sobre su apropiación del espacio público.BASTRACT: The article ponders upon which are the gender violence in the city of Medellin’ public space; and how violence against women and gender roles influence in ownership and configuration of the city’ public spaces. A portrait of the city from a gender perspective is made through: press research, surveys, focus groups, life stories and social cartographies. In order to identify the feared and forbidden places, women’s practices and experiences; as well as their imaginaries, fears, expectations and frustrations on their appropriation of public spac

A multiobjective optimization issue: genetic control planning or trajectories.

Part of a research project on cooperative marine robotics is the scenario of a submarine rendez-vous. This paper considers this case, where a high-manoeuvrability AUV (autonomous underwater vehicle) should meet a submarine platform for energy, samples and data service. Since the AUV is equipped with a set of thrusters, the problem of an adequate command of the thrusters appears. Given initial and final points for the AUV underwater trajectory, the question is to determine the set of forces and times to be exerted by the thrusters to get an adequate trajectory. Several constraints and simultaneous objectives to be optimized must be considered. Given the complexity of the multi-objective optimisation problem, it seems opportune to use Genetic Algorithms. The paper describes the problem to be solved, then explains how the GA were applied, and presents results for a set of cases considered, including obstacle avoidance

Identificación de Fusarium cf. verticillioides como agente causal de la enfermedad Pokka boheng en caña de azúcar en el departamento de Antioquia, Colombia

The cultivation of sugarcane represents an important part in the Colombian economy due to the diverse applications in industries like liquor, food, paper and biofuels. Sugarcane worldwide production is affected by the presence of phytopathogenic agents, mainly filamentous fungi such as Physalospora tucumanensis (red rot disease) and Fusarium spp. To date in Colombia, Pokka boheng disease whose causal agent is the fungus Fusarium verticillioides, has not been reported, which is why it is necessary to identify appropriately this microorganism, responsible for losses in productivity and food contamination. In order to isolate and identify the infectious agent from symptomatic tissues, disinfection and culture in liquid and solid culture mediums were performed in malt extract (2%) and yeast extract (0.2%) both liquid and solid, for 7 days. After several replicates in agar plate, a purification was made along with a morphological characterization based on the shape and color of the mycelium, as well as the type of spores generated. Additionally, the genetic material was extracted and gene markers (ITS, Elongation Factor 1-α (EF) and β-Tubulin (Btub)) were amplified by PCR. Then, DNA sequencing was used to obtain the data to make a phylogenetic reconstruction by probabilistic methods (Maximum Likelihood and Bayesian Inference). The isolated strain, named as EA-FP0013 was located in the Fujikuroi complex group, with high probable identity to Fusarium verticillioides. Thus, early and species-specific identification of these fungal isolates by molecular methods may allow the timely diagnosis of emerging pathophysiological diseases of interest in the region, and thus propose the respective control strategies.El cultivo de la caña de azúcar representa una parte importante en la economía de Colombia debido a las diversas aplicaciones en industrias como licor, alimentos, papel y biocombustibles. Su producción en todo el mundo se ve afectada por la presencia de agentes fitopatógenos, principalmente hongos filamentosos como Physalospora tucumanensis (agente causal de la enfermedad “Pudrición roja”) y Fusarium spp. Hasta la fecha, en Colombia, no se ha reportado la enfermedad de Pokka boheng en este cultivo cuyo agente causal es el hongo Fusarium verticillioides, por lo que es necesario identificar adecuadamente este microorganismo, responsable de las pérdidas en productividad y contaminación de los alimentos. Con el fin de aislar e identificar el agente infeccioso de los tejidos sintomáticos, se realizó la desinfección y posterior siembra de éstos en medios de cultivo extracto de malta (2 %) y extracto de levadura (0.2 %) tanto líquido como sólido durante 7 días. A partir de varias placas petri, se realizó la respectiva purificación y una caracterización morfológica basada en la forma y el color del micelio, así como el tipo de esporas generadas. Adicionalmente, el material genético se extrajo y se amplificaron los marcadores genéticos (ITS, factor de elongación 1-α (EF) y β-tubulina (Btub)) por PCR. Luego, se utilizó la secuenciación del ADN para obtener los datos para realizar una reconstrucción filogenética mediante métodos probabilísticos (máxima verosimilitud e inferencia bayesiana). La cepa aislada, nombrada como EA-FP0013 se localizó en el grupo del complejo Fujikuroi, con una alta identidad probable para Fusarium verticillioides. Por lo tanto, la identificación temprana y específica de especie de estos aislados fúngicos, utilizando métodos moleculares, puede permitir el diagnóstico oportuno de enfermedades fisiopatológicas emergentes de interés para la región, y así proponer las estrategias de control respectivas

Regulation of mother-to-offspring transmission of mtDNA heteroplasmy

mtDNA is present in multiple copies in each cell derived from the expansions of those in the oocyte. Heteroplasmy, more than one mtDNA variant, may be generated by mutagenesis, paternal mtDNA leakage, and novel medical technologies aiming to prevent inheritance of mtDNA-linked diseases. Heteroplasmy phenotypic impact remains poorly understood. Mouse studies led to contradictory models of random drift or haplotype selection for mother-to-offspring transmission of mtDNA heteroplasmy. Here, we show that mtDNA heteroplasmy affects embryo metabolism, cell fitness, and induced pluripotent stem cell (iPSC) generation. Thus, genetic and pharmacological interventions affecting oxidative phosphorylation (OXPHOS) modify competition among mtDNA haplotypes during oocyte development and/or at early embryonic stages. We show that heteroplasmy behavior can fall on a spectrum from random drift to strong selection, depending on mito-nuclear interactions and metabolic factors. Understanding heteroplasmy dynamics and its mechanisms provide novel knowledge of a fundamental biological process and enhance our ability to mitigate risks in clinical applications affecting mtDNA transmission

Study protocol of a randomized controlled trial to assess safety of teleconsultation compared with face-to-face consultation: the ECASeT study

BackgroundThe use of remote consultation modalities has exponentially grown in the past few years, particularly since the onset of the COVID-19 pandemic. Although a huge body of the literature has described the use of phone (tele) and video consultations, very few of the studies correspond to randomized controlled trials, and none of them has assessed the safety of these consultation modalities as the primary objective. The primary objective of this trial was to assess the safety of remote consultations (both video and teleconsultation) in the follow-up of patients in the hospital setting.MethodsMulticenter, randomized controlled trial being conducted in four centers of an administrative healthcare area in Catalonia (North-East Spain). Participants will be screened from all individuals, irrespective of age and sex, who require follow-up in outpatient consultations of any of the departments involved in the study. Eligibility criteria have been established based on the local guidelines for screening patients for remote consultation. Participants will be randomly allocated into one of the two study arms: conventional face-to-face consultation (control) and remote consultation, either teleconsultation or video consultation (intervention). Routine follow-up visits will be scheduled at a frequency determined by the physician based on the diagnostic and therapy of the baseline disease (the one triggering enrollment). The primary outcome will be the number of adverse reactions and complications related to the baseline disease. Secondary outcomes will include non-scheduled visits and hospitalizations, as well as usability features of remote consultations. All data will either be recorded in an electronic clinical report form or retrieved from local electronic health records. Based on the complications and adverse reaction rates reported in the literature, we established a target sample size of 1068 participants per arm. Recruitment started in May 2022 and is expected to end in May 2024.DiscussionThe scarcity of precedents on the assessment of remote consultation modalities using randomized controlled designs challenges making design decisions, including recruitment, selection criteria, and outcome definition, which are discussed in the manuscript.Trial registrationNCT05094180. The items of the WHO checklist for trial registration are available in Additional file 1. Registered on 24 November 2021

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.

Bridging the gap between genetic variations, environmental determinants, and phenotypic outcomes is critical for supporting clinical diagnosis and understanding mechanisms of diseases. It requires integrating open data at a global scale. The Monarch Initiative advances these goals by developing open ontologies, semantic data models, and knowledge graphs for translational research. The Monarch App is an integrated platform combining data about genes, phenotypes, and diseases across species. Monarch\u27s APIs enable access to carefully curated datasets and advanced analysis tools that support the understanding and diagnosis of disease for diverse applications such as variant prioritization, deep phenotyping, and patient profile-matching. We have migrated our system into a scalable, cloud-based infrastructure; simplified Monarch\u27s data ingestion and knowledge graph integration systems; enhanced data mapping and integration standards; and developed a new user interface with novel search and graph navigation features. Furthermore, we advanced Monarch\u27s analytic tools by developing a customized plugin for OpenAI\u27s ChatGPT to increase the reliability of its responses about phenotypic data, allowing us to interrogate the knowledge in the Monarch graph using state-of-the-art Large Language Models. The resources of the Monarch Initiative can be found at monarchinitiative.org and its corresponding code repository at github.com/monarch-initiative/monarch-app

Alliance of Genome Resources Portal: unified model organism research platform

The Alliance of Genome Resources (Alliance) is a consortium of the major model organism databases and the Gene Ontology that is guided by the vision of facilitating exploration of related genes in human and well-studied model organisms by providing a highly integrated and comprehensive platform that enables researchers to leverage the extensive body of genetic and genomic studies in these organisms. Initiated in 2016, the Alliance is building a central portal (www.alliancegenome.org) for access to data for the primary model organisms along with gene ontology data and human data. All data types represented in the Alliance portal (e.g. genomic data and phenotype descriptions) have common data models and workflows for curation. All data are open and freely available via a variety of mechanisms. Long-term plans for the Alliance project include a focus on coverage of additional model organisms including those without dedicated curation communities, and the inclusion of new data types with a particular focus on providing data and tools for the non-model-organism researcher that support enhanced discovery about human health and disease. Here we review current progress and present immediate plans for this new bioinformatics resource

Alliance of Genome Resources Portal: unified model organism research platform

The Alliance of Genome Resources (Alliance) is a consortium of the major model organism databases and the Gene Ontology that is guided by the vision of facilitating exploration of related genes in human and well-studied model organisms by providing a highly integrated and comprehensive platform that enables researchers to leverage the extensive body of genetic and genomic studies in these organisms. Initiated in 2016, the Alliance is building a central portal (www.alliancegenome.org) for access to data for the primary model organisms along with gene ontology data and human data. All data types represented in the Alliance portal (e.g. genomic data and phenotype descriptions) have common data models and workflows for curation. All data are open and freely available via a variety of mechanisms. Long-term plans for the Alliance project include a focus on coverage of additional model organisms including those without dedicated curation communities, and the inclusion of new data types with a particular focus on providing data and tools for the non-model-organism researcher that support enhanced discovery about human health and disease. Here we review current progress and present immediate plans for this new bioinformatics resource

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

Background: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. Methods: In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with =2 clinical signs/symptoms of NP-C were considered ''suspected NP-C'' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI =70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. Results: In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores =70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. Conclusion: This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis