34 research outputs found
Los procesos procreativos desde la Antropología: el caso de las madres de Barcelona por un parto respetado
Este artículo dedicado a los procesos procreativos desde la Antropología presenta una propuesta analítica que tiene por finalidad ahondar en las estructuras básicas que subyacen en la procreación humana desde la perspectiva cultural. La propuesta trabajada en el proyecto de investigación I+D+i (Parentescos: Formas de parentalidad y articulaciones disciplinarias) se ciñe exclusivamente al periodo procreativo, permitiendo analizar nociones sobre la formación de la persona con sus atribuciones de sentido en distintos momentos del proceso (desde la concepción, la gestación y el nacimiento), los vínculos parentales y los cuidados que se le brindan al recién nacido y que son ámbito del Parentesco y de la Salud. Se ha tomado como ejemplo el modelo procreativo defendido por las mujeres que optan por un «parto respetado» en el contexto de Barcelona.Palabras clave: Metodología, proceso procreativo, reproducción humana, parentesco, noción de persona, parto respetado.AbstractThis article deals with procreative processes from an anthropological perspective and presents an analytical proposal that aims to delve into the basic structures underlying human procreation from a cultural perspective. The proposal has been developed within the R&D project Kinships: Ways of parenthood and disciplinary articulations and refers to the procreative period. It thus allows the analysis of notions concerning personhood and the attributions of meaning in different moments of the process (conception, pregnancy and birth). It also examines parental bonds and newborn care, which are part of kinship and health. As an example, the article exposes the procreative model held by women who opt for a “respectful birth” in Barcelona.Keywords: Methodology, procreative process, human reproduction, kinship, personhood, respectful birth.Este artículo dedicado a los procesos procreativos desde la Antropología presenta una propuesta analítica que tiene por finalidad ahondar en las estructuras básicas que subyacen en la procreación humana desde la perspectiva cultural. La propuesta trabajada en el proyecto de investigación I+D+i (Parentescos: Formas de parentalidad y articulaciones disciplinarias) se ciñe exclusivamente al periodo procreativo, permitiendo analizar nociones sobre la formación de la persona con sus atribuciones de sentido en distintos momentos del proceso (desde la concepción, la gestación y el nacimiento), los vínculos parentales y los cuidados que se le brindan al recién nacido y que son ámbito del Parentesco y de la Salud. Se ha tomado como ejemplo el modelo procreativo defendido por las mujeres que optan por un «parto respetado» en el contexto de Barcelona.Palabras clave: Metodología, proceso procreativo, reproducción humana, parentesco, noción de persona, parto respetado.AbstractThis article deals with procreative processes from an anthropological perspective and presents an analytical proposal that aims to delve into the basic structures underlying human procreation from a cultural perspective. The proposal has been developed within the R&D project Kinships: Ways of parenthood and disciplinary articulations and refers to the procreative period. It thus allows the analysis of notions concerning personhood and the attributions of meaning in different moments of the process (conception, pregnancy and birth). It also examines parental bonds and newborn care, which are part of kinship and health. As an example, the article exposes the procreative model held by women who opt for a “respectful birth” in Barcelona.Keywords: Methodology, procreative process, human reproduction, kinship, personhood, respectful birth
Community research report
University College Cork introduced its first Community-based Participatory Research (CBPR) module in 2016. The module was funded and supported by Horizon2020 funding, specifically the EnRRICH project (Enhancing Responsible Research and Innovation through Curricula in Higher Education). The module is a 5-credit module for PhD students from all disciplines in the early stages of their PhD at University College Cork. Following two fruitful partnerships in the areas of social justice / equality, community family support services and older persons, there was a keen interested to explore partnerships in markedly different areas such as environmental sustainability. A dialogue ensued with CEF where the opportunity and feasibility to collaborate on the CBPR module was explored
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'. The disorder is characterized by early-onset, recurrent, often alternating, hemiplegic episodes; seizures and non-paroxysmal neurological features also occur. Dysautonomia may occur during hemiplegia or in isolation. Premature mortality can occur in this patient group and is not fully explained. Preventable cardiorespiratory arrest from underlying cardiac dysrhythmia may be a cause. We analysed ECG recordings of 52 patients with alternating hemiplegia from nine countries: all had whole-exome, whole-genome, or direct Sanger sequencing of ATP1A3. Data on autonomic dysfunction, cardiac symptoms, medication, and family history of cardiac disease or sudden death were collected. All had 12-lead electrocardiogram recordings available for cardiac axis, cardiac interval, repolarization pattern, and J-point analysis. Where available, historical and prolonged single-lead electrocardiogram recordings during electrocardiogram-videotelemetry were analysed. Half the cohort (26/52) had resting 12-lead electrocardiogram abnormalities: 25/26 had repolarization (T wave) abnormalities. These abnormalities were significantly more common in people with alternating hemiplegia than in an age-matched disease control group of 52 people with epilepsy. The average corrected QT interval was significantly shorter in people with alternating hemiplegia than in the disease control group. J wave or J-point changes were seen in six people with alternating hemiplegia. Over half the affected cohort (28/52) had intraventricular conduction delay, or incomplete right bundle branch block, a much higher proportion than in the normal population or disease control cohort (P = 0.0164). Abnormalities in alternating hemiplegia were more common in those ≥16 years old, compared with those <16 (P = 0.0095), even with a specific mutation (p.D801N; P = 0.045). Dynamic, beat-to-beat or electrocardiogram-to-electrocardiogram, changes were noted, suggesting the prevalence of abnormalities was underestimated. Electrocardiogram changes occurred independently of seizures or plegic episodes. Electrocardiogram abnormalities are common in alternating hemiplegia, have characteristics reflecting those of inherited cardiac channelopathies and most likely amount to impaired repolarization reserve. The dynamic electrocardiogram and neurological features point to periodic systemic decompensation in ATP1A3-expressing organs. Cardiac dysfunction may account for some of the unexplained premature mortality of alternating hemiplegia. Systematic cardiac investigation is warranted in alternating hemiplegia of childhood, as cardiac arrhythmic morbidity and mortality are potentially preventable
Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients.
BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. METHODS: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. RESULTS: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which were novel. In general, mutations were found to cluster into five different regions. The most frequent mutations included: p.Asp801Asn (43 %; 57/132), p.Glu815Lys (16 %; 22/132), and p.Gly947Arg (11 %; 15/132). Of these, p.Glu815Lys was associated with a severe phenotype, with more severe intellectual and motor disability. p.Asp801Asn appeared to confer a milder phenotypic expression, and p.Gly947Arg appeared to correlate with the most favourable prognosis, compared to the other two frequent mutations. Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was earlier for patients with either p.Glu815Lys or p.Gly947Arg mutation, compared to those with p.Asp801Asn mutation (p < 0.001). With regards to the five mutation clusters, some clusters appeared to correlate with certain clinical phenotypes. No statistically significant clinical correlations were found between patients with and without ATP1A3 mutations. CONCLUSIONS: Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trials
Resectability and Ablatability Criteria for the Treatment of Liver Only Colorectal Metastases:Multidisciplinary Consensus Document from the COLLISION Trial Group
The guidelines for metastatic colorectal cancer crudely state that the best local treatment should be selected from a 'toolbox' of techniques according to patient- and treatment-related factors. We created an interdisciplinary, consensus-based algorithm with specific resectability and ablatability criteria for the treatment of colorectal liver metastases (CRLM). To pursue consensus, members of the multidisciplinary COLLISION and COLDFIRE trial expert panel employed the RAND appropriateness method (RAM). Statements regarding patient, disease, tumor and treatment characteristics were categorized as appropriate, equipoise or inappropriate. Patients with ECOG≤2, ASA≤3 and Charlson comorbidity index ≤8 should be considered fit for curative-intent local therapy. When easily resectable and/or ablatable (stage IVa), (neo)adjuvant systemic therapy is not indicated. When requiring major hepatectomy (stage IVb), neo-adjuvant systemic therapy is appropriate for early metachronous disease and to reduce procedural risk. To downstage patients (stage IVc), downsizing induction systemic therapy and/or future remnant augmentation is advised. Disease can only be deemed permanently unsuitable for local therapy if downstaging failed (stage IVd). Liver resection remains the gold standard. Thermal ablation is reserved for unresectable CRLM, deep-seated resectable CRLM and can be considered when patients are in poor health. Irreversible electroporation and stereotactic body radiotherapy can be considered for unresectable perihilar and perivascular CRLM 0-5cm. This consensus document provides per-patient and per-tumor resectability and ablatability criteria for the treatment of CRLM. These criteria are intended to aid tumor board discussions, improve consistency when designing prospective trials and advance intersociety communications. Areas where consensus is lacking warrant future comparative studies.</p
Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches
Extracellular vesicles (EVs), through their complex cargo, can reflect the state of their cell of origin and change the functions and phenotypes of other cells. These features indicate strong biomarker and therapeutic potential and have generated broad interest, as evidenced by the steady year-on-year increase in the numbers of scientific publications about EVs. Important advances have been made in EV metrology and in understanding and applying EV biology. However, hurdles remain to realising the potential of EVs in domains ranging from basic biology to clinical applications due to challenges in EV nomenclature, separation from non-vesicular extracellular particles, characterisation and functional studies. To address the challenges and opportunities in this rapidly evolving field, the International Society for Extracellular Vesicles (ISEV) updates its 'Minimal Information for Studies of Extracellular Vesicles', which was first published in 2014 and then in 2018 as MISEV2014 and MISEV2018, respectively. The goal of the current document, MISEV2023, is to provide researchers with an updated snapshot of available approaches and their advantages and limitations for production, separation and characterisation of EVs from multiple sources, including cell culture, body fluids and solid tissues. In addition to presenting the latest state of the art in basic principles of EV research, this document also covers advanced techniques and approaches that are currently expanding the boundaries of the field. MISEV2023 also includes new sections on EV release and uptake and a brief discussion of in vivo approaches to study EVs. Compiling feedback from ISEV expert task forces and more than 1000 researchers, this document conveys the current state of EV research to facilitate robust scientific discoveries and move the field forward even more rapidly
TRY plant trait database – enhanced coverage and open access
Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Los procesos procreativos desde la antropología : el caso de las madres de Barcelona por un parto respetado
Este artículo dedicado a los procesos procreativos desde la Antropología presenta una propuesta analítica que tiene por finalidad ahondar en las estructuras básicas que subyacen en la procreación humana desde la perspectiva cultural. La propuesta trabajada en el proyecto de investigación I+D+i (Parentescos: Formas de parentalidad y articulaciones disciplinarias) se ciñe exclusivamente al periodo procreativo, permitiendo analizar nociones sobre la formación de la persona con sus atribuciones de sentido en distintos momentos del proceso (desde la concepción, la gestación y el nacimiento), los vínculos parentales y los cuidados que se le brindan al recién nacido y que son ámbito del Parentesco y de la Salud. Se ha tomado como ejemplo el modelo procreativo defendido por las mujeres que optan por un 'parto respetado' en el contexto de BarcelonaThis article deals with procreative processes from an anthropological perspective and presents an analytical proposal that aims to delve into the basic structures underlying human procreation from a cultural perspective. The proposal has been developed within the R&D project Kinships: Ways of parenthood and disciplinary articulations and refers to the procreative period. It thus allows the analysis of notions concerning personhood and the attributions of meaning in different moments of the process (conception, pregnancy and birth). It also examines parental bonds and newborn care, which are part of kinship and health. As an example, the article exposes the procreative model held by women who opt for a 'respectful birth' in Barcelon
Confirmed presence of aedes (rusticoidus) refiki Medschid, 1928 in a continental dry Mediterranean peri-urban environment in south-central Spain
[Background] The ‘snow-melt mosquito’ aedes (rusticoidus) refiki is a rare species with a wide distribution in Europe that is usually defined as an aggressive mosquito for mammals, including humans. During a mosquito survey in a peri-urban area in south-central mainland Spain, adult Ae. refiki females were captured and identified by morphological traits. The presence of this species of mosquito has never been molecularly confirmed under continental dry Mediterranean climatic influence with scarce number of days with snow on soil. The aim of this study was to confirm by amplification and sequencing of mitochondrial cytochrome c oxidase subunit I (COI) and internal transcribed spacer 2 (ITS2) region.[Results] We also successfully amplified and typed the species molecularly by COI and ITS2 regions. The peri-urban area where Ae. refiki was found contrasts with the reported cold, humid and snowy environments required by the species to breed.[Conclusions] This finding suggests that the species is already adapted to continental dry Mediterranean environments, questioning whether it is a truly stenotopic species of cold snowy environments.We acknowledge funding by the Spanish Ministry for the Science and Innovation (MCI) and the European Social Fund (ESF, EC) through projects E-RTA-2015–00002-C02-02 and CGL2017-89866-R. LCM acknowledges funding by MCI, ESF and the University of Castilla-La Mancha through project PEJ2018-003155-A. MF is recipient of postdoctoral perfection grants by the Spanish Ministry of Science, Innovation and Universities of Spain (CD18/00091). This research was supported by CIBER -Consorcio Centro de Investigación Biomédica en Red- (CB 2021), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación and Unión Europea – NextGenerationEU.Peer reviewe