21 research outputs found

    Cystic fibrosis newborn screening: the importance of bloodspot sample quality

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    Objective Wales has an immunoreactive trypsin (IRT)-DNA cystic fibrosis (CF) newborn screening (NBS) programme. Most CF NBS false negative cases are due to an IRT concentration below the screening threshold. The accuracy of IRT results is dependent on the quality of the dried bloodspot (DBS) sample. The aim of this study was to determine the cause of false negative cases in CF NBS and their relationship to DBS quality. Design Longitudinal birth cohort. Setting Wales 1996–2016. Patients Children with CF. Interventions Identification of all CF patients with triangulation of multiple data sources to detect false negative cases. Main outcome measures False negative cases. Results Over 20 years, 673 952 infants were screened and 239 were diagnosed with CF (incidence 1:2819). The sensitivity of the programme was 0.958, and positive predictive value was 0.476. Eighteen potential false negatives were identified, of whom eight were excluded: four screened outside Wales, two had complex comorbidities, no identified cystic fibrosis transmembrane conductance regulator (CFTR) variants on extended analysis and thus not considered to have CF and two were diagnosed after their 16th birthday. Of the 10 false negatives, 9 had a low DBS IRT and at least one common CFTR variant and thus should have received a sweat test under the programme. DBS cards were available for inspection for five of the nine false negative cases—all were classified as small/insufficient or poor quality. Conclusions The majority of false negatives had a low bloodspot IRT, and this was associated with poor quality DBS. The optimal means to improve the sensitivity of our CF NBS programme would be to improve DBS sample quality

    Revisiting Frederic Engel’s hypothesis: how The Lomas determine the distribution of preceramic archaeology on Peru’s southern coast

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    Frédéric Engel (1981:24), el pionero de los estudios del Precerámico en el Perú, argumentó que la distribución de los sitios arqueológicos durante el Holoceno temprano fue determinada por “la capacidad de las lomas” –oasis estacionales producidos por la humedad oceánica que están presentes a lo largo de la costa del Perú– una proposición que aún se encuentra en debate. Nosotros evaluaremos las ideas de Engel basándonos en datos de sitios arqueológicos del Precerámico Medio (hasta 4500 años cal AP) ubicados dentro y cerca de las lomas de la costa sur del Perú.The pioneer of Preceramic archaeology in Peru, Frédéric Engel (1981: 24), argued that archaeological site distribution during the Early Holocene, was defined by the ‘fog oasis situation’ of lomas –the seasonal oases sustained by ocean fogs that flourish along the arid Pacific coast of Peru– a proposition that remains much debated. Here we reassess Engel’s ideas using archaeological findings from Middle Preceramic archaeological sites (to c. 4500 cal BP) from alongside and within the lomas of the south coast of Peru.Sociedad Argentina de Antropologí

    Atlantic Meridional Overturning Circulation: Observed Transport and Variability

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    The Atlantic Meridional Overturning Circulation (AMOC) extends from the Southern Ocean to the northern North Atlantic, transporting heat northwards throughout the South and North Atlantic, and sinking carbon and nutrients into the deep ocean. Climate models indicate that changes to the AMOC both herald and drive climate shifts. Intensive trans-basin AMOC observational systems have been put in place to continuously monitor meridional volume transport variability, and in some cases, heat, freshwater and carbon transport. These observational programs have been used to diagnose the magnitude and origins of transport variability, and to investigate impacts of variability on essential climate variables such as sea surface temperature, ocean heat content and coastal sea level. AMOC observing approaches vary between the different systems, ranging from trans-basin arrays (OSNAP, RAPID 26°N, 11°S, SAMBA 34.5°S) to arrays concentrating on western boundaries (e.g., RAPID WAVE, MOVE 16°N). In this paper, we outline the different approaches (aims, strengths and limitations) and summarize the key results to date. We also discuss alternate approaches for capturing AMOC variability including direct estimates (e.g., using sea level, bottom pressure, and hydrography from autonomous profiling floats), indirect estimates applying budgetary approaches, state estimates or ocean reanalyses, and proxies. Based on the existing observations and their results, and the potential of new observational and formal synthesis approaches, we make suggestions as to how to evaluate a comprehensive, future-proof observational network of the AMOC to deepen our understanding of the AMOC and its role in global climate

    Insights into changing coastlines, environments and marine hunter-gatherer lifestyles on the Pacific coast of South America from the La Yerba II shell midden, Río Ica estuary, Peru

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    Shell middens are conspicuous manifestations of the exploitation of rich, sustainable, easily seen and harvested marine resources that, worldwide, enabled hunter-gatherers to reduce mobility and increase population and social complexity. Globally, known sites tend to cluster chronologically around 6 k BP, after slowing eustatic sea-level rise, although the Pacific coast of South America offers some rare earlier exceptions.We report investigations of La Yerba II, a Middle Preceramic shell matrix site on the Río Ica estuary, south coast Peru. These show how, beginning around 7000 Cal BP, over 4.5 m of stratigraphy accumulated in less than 500 years. Consisting of prepared surfaces, indurated floors and the ashy interiors of wind shelters and their associated midden deposits, alternating with phases of abandonment, this was the outcome of an intense rhythm of repeated occupations by logistically mobile marine hunter-gatherers. Final phases, dominated by Mesodesma surf clams, mark change towards more task-specific activities.La Yerba II's topographic position and well-preserved cultural and environmental markers provide insight into the local history of relative sea level change and changing marine hunter-gatherer lifestyles during a period critical to the transition to sedentism and the formation of new estuarine and beach habitats following the stabilisation of eustatic sea-levels

    Processes, contexts, and rationale for disinvestment: a protocol for a critical interpretive synthesis

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    Abstract Background Practical solutions are needed to support the appropriate use of available health system resources as countries are continually pressured to ‘do more with less’ in health care. Increasingly, health systems and organizations are exploring the reassessment of possibly obsolete, inefficient, or ineffective health system resources and potentially redirecting funds to those that are more effective and efficient. Such processes are often referred to as ‘disinvestment’. Our objective is to gain further understanding about: 1) whether how and under what conditions health systems decide to pursue disinvestment; 2) how health systems have chosen to undertake disinvestment; and 3) how health systems have implemented their disinvestment approach. Methods/Design We will use a critical interpretive synthesis (CIS) approach, to develop a theoretical framework based on insights drawn from a range of relevant sources. We will conduct systematic searches of databases as well as purposive searches to identify literature to fill conceptual gaps that may emerge during our inductive process of synthesis and analysis. Two independent reviewers will assess search results for relevance and conceptually map included references. We will include all empirical and non-empirical articles that focus on disinvestment at a system level. We will then extract key findings from a purposive sample of articles using frameworks related to government agendas, policy development and implementation, and health system contextual factors and then synthesize and integrate the findings to develop a framework about our core areas of interest. Lastly, we will convene a stakeholder dialogue with Canadian and international policymakers and other stakeholders to solicit targeted feedback about the framework (e.g., by identifying any gaps in the literature that we may want to revisit before finalizing it) and deliberating about barriers for developing and implementing approaches to disinvestment, strategies to address these barriers and about next steps that could be taken by different constituencies. Discussion Disinvestment is an emerging field and there is a need for evidence to inform the prioritization, development, and implementation of strategies in different contexts. Our CIS and the framework developed through it will support the actions of those involved in the prioritization, development, and implementation of disinvestment initiatives. Systematic review registration PROSPERO CRD4201401320

    Revisitando la hipotesis de Frederic Engel: cómo las lomas determinan la distribución arqueológica del precerámico en la costa sur del Perú

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    The pioneer of Preceramic archaeology in Peru, Frédéric Engel (1981: 24), argued that archaeologicalsitedistributionduring theEarlyHolocene, wasdefinedby the fogoasissituation’of lomas -the seasonal oases sustained by ocean fogs that flourish along the arid Pacific coast ofPeru- a proposition that remains much debated. Here we reassess Engel’s ideas using archaeological findings from Middle Preceramic archaeological sites (to c. 4500 cal BP) from alongside and within the lomas of the south coastof Peru.Frédéric Engel (1981:24), el pionero de los estudios del Precerámico en el Perú, argumentó que la distribución de los sitios arqueológicos durante el Holoceno temprano fue determinada por“la capacidad de las lomas” -oasis estacionales producidos por la humedad oceánica que estánpresentes a lo largo de la costa del Perú- una proposición que aún se encuentra en debate. Nosotros evaluaremos las ideas de Engel basándonos en datos de sitios arqueológicos del PrecerámicoMedio (hasta 4500 años cal AP) ubicados dentro y cerca de las lomas de la costa sur del Perú
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