Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

The diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sporadic malignant parathyroid tumors, initially diagnosed as adenomas. In one case, the differential diagnosis was complicated by cervical seeding of parathyroid tumor cells. Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. Furthermore, the identification of somatic mutations in the patients‟ parathyroid tumors provided evidence for complete inactivation of the HRPT2 gene, which was consistent with the tumor malignant features. The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. Establishing the diagnosis of hereditary HPT-JT syndrome is relevant for clinical counseling and management of the carriers and their relatives

Evaluation of a quality improvement intervention for labour and birth care in Brazilian private hospitals: a protocol

© 2018 The Author(s). Background: In Brazilian private hospitals, caesarean section (CS) is almost universal (88%) and is integrated into the model of birth care. A quality improvement intervention, “Adequate Birth” (PPA), based on four driving components (governance, participation of women and families, reorganisation of care, and monitoring), has been implemented to help 23 hospitals reduce their CS rate. This is a protocol designed to evaluate the implementation of PPA and its effectiveness at reducing CS as a primary outcome of birth care. Methods: Case study of PPA intervention conducted in 2017/2018. We integrated quantitative and qualitative methods into data collection and analysis. For the quantitative stage, we selected a convenient sample of twelve hospitals. In each of these hospitals, we included 400 women. This resulted in a total sample of 4800 women. We used this sample to detect a 2.5% reduction in CS rate. We interviewed managers and puerperal women, and extracted data from hospital records. In the qualitative stage, we evaluated a subsample of eight hospitals by means of systematic observation and semi-structured interviews with managers, health professionals and women. We used specific forms for each of the four PPA driving components. Forms for managers and professionals addressed the decision-making process, implemented strategies, participatory process in strategy design, and healthcare practice. Forms for women and neonatal care addressed socio-economic, demographic and health condition; prenatal and birth care; tour of the hospital before delivery; labour expectation vs. real experience; and satisfaction with care received. We will estimate the degree of implementation of PPA strategies related to two of the four driving components: “participation of women and families” and “reorganisation of care”. We will then assess its effect on CS rate and secondary outcomes for each of the twelve selected hospitals, and for the total sample. To allow for clinical, socio-demographic and obstetric characteristics in women, we will conduct multivariate analysis. Additionally, we will evaluate the influence of internal context variables (the PPA driving components “governance” and “monitoring”) on the degree of implementation of the components “participation of women and families” and “reorganisation of care”, by means of thematic content analysis. This analysis will include both quantitative and qualitative data. Discussion: The effectiveness of quality improvement interventions that reduce CS rates requires examination. This study will identify strategies that could promote healthier births

Prognostic Value of Isolated Elevated Troponin I Levels in Patients without Acute Coronary Syndrome Admitted to the Emergency Department

Background: Although non-ischemic troponin elevation is frequently seen in patients admitted to the emergency department (ED), consensus regarding its management is lacking. Objectives: This study aimed to characterize patients admitted to the ED with non-ischemic troponin elevation and to identify potential mortality predictors in this population. Methods: This retrospective observational study included ED patients with a positive troponin test result between June and July of 2015. Patients with a clinical diagnosis of acute coronary syndrome (ACS) were excluded. Data on patient demographics and clinical and laboratory variables were extracted from medical records. Follow-up data were obtained for 16 months or until death occurred. The statistical significance level was 5%. Results: Troponin elevation without ACS was found in 153 ED patients. The median (IQR) patient age was 78 (19) years, 80 (52.3%) were female and 59(38.6%) died during follow-up. The median (IQR) follow-up period was 477(316) days. Survivors were significantly younger 76 (24) vs. 84 (13) years; p=0.004) and featured a higher proportion of isolated troponin elevation (without creatine kinase or myoglobin elevation) in two consecutive evaluations: 48 (53.9%) vs. 8 (17.4%), p<0.001. Survivors also presented a lower rate of antiplatelet treatment and same-day hospitalization. In the multivariate logistic regression with adjustment for significant variables in the univariate analysis, isolated troponin elevation in two consecutive evaluations showed a hazard ratio= 0.43 (95%CI 0.17-0.96, p=0.039); hospitalization, previous antiplatelet treatment and age remained independently associated with mortality. Conclusions: Isolated troponin elevation in two consecutive measurements was a strong predictor of survival in ED patients with troponin elevation but without ACS.info:eu-repo/semantics/publishedVersio

When ‘the show’ cannot go on: An investigation into sports mega-events and responses during the pandemic crisis

This article examines the relationship between sports mega-events and the coronavirus disease-2019 pandemic. Focusing primarily on the 2020 Summer Olympics and Union of European Football Associations Euro 2020 in football – representing two mega-events that were postponed due to the pandemic – this article explores the emerging discourses from sport governing bodies, and how these organisations communicated their initial responses to the pandemic between February and May 2020. The article takes a digital qualitative research approach and draws upon frame analysed media sources and public communications. As it proceeds, this article first illuminates how global sports entered a temporary standstill and, second, how sport governing bodies positioned themselves with regard to responding to the global crisis from within the sporting sphere. Subsequently, this article emphasises how the relevant responses, as communicated by sport governing bodies, reflected the broader reactive and adaptive pandemic responses apparent within socio-political fields

Model-Derived Dispersal Pathways from Multiple Source Populations Explain Variability of Invertebrate Larval Supply

Background: Predicting the spatial and temporal patterns of marine larval dispersal and supply is a challenging task due to the small size of the larvae and the variability of oceanographic processes. Addressing this problem requires the use of novel approaches capable of capturing the inherent variability in the mechanisms involved. Methodology/Principal Findings: In this study we test whether dispersal and connectivity patterns generated from a biophysical model of larval dispersal of the crab Carcinus maenas, along the west coast of the Iberian Peninsula, can predict the highly variable daily pattern of wind-driven larval supply to an estuary observed during the peak reproductive season (March–June) in 2006 and 2007. Cross-correlations between observed and predicted supply were significant (p,0.05) and strong, ranging from 0.34 to 0.81 at time lags of 26 to+5 d. Importantly, the model correctly predicted observed cross-shelf distributions (Pearson r = 0.82, p,0.001, and r = 0.79, p,0.01, in 2006 and 2007) and indicated that all supply events were comprised of larvae that had been retained within the inner shelf; larvae transported to the outer shelf and beyond never recruited. Estimated average dispersal distances ranged from 57 to 198 km and were only marginally affected by mortality. Conclusions/Significance: The high degree of predicted demographic connectivity over relatively large geographic scales is consistent with the lack of genetic structuring in C. maenas along the Iberian Peninsula. These findings indicate that the dynamic nature of larval dispersal can be captured by mechanistic biophysical models, which can be used to provid

Local Function Conservation in Sequence and Structure Space

We assess the variability of protein function in protein sequence and structure space. Various regions in this space exhibit considerable difference in the local conservation of molecular function. We analyze and capture local function conservation by means of logistic curves. Based on this analysis, we propose a method for predicting molecular function of a query protein with known structure but unknown function. The prediction method is rigorously assessed and compared with a previously published function predictor. Furthermore, we apply the method to 500 functionally unannotated PDB structures and discuss selected examples. The proposed approach provides a simple yet consistent statistical model for the complex relations between protein sequence, structure, and function. The GOdot method is available online (http://godot.bioinf.mpi-inf.mpg.de)

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

Contribution of Alaskan glaciers to sea level rise derived from satellite imagery

International audienceOver the last 50 years, retreating glaciers and ice caps (GIC) contributed 0.5 mm/yr to sea level rises (SLR), and one third is believed to originate from ice masses bordering the Gulf of Alaska. However, these estimates of ice wastage in Alaska are based on methods that measure a limited number of glaciers and extrapolate the results to estimate ice loss for the many thousands of others. How these methods capture the complex pattern of decadal elevation changes at the scale of individual glacier and mountain range is unclear. Here, combining a comprehensive glacier inventory with elevation changes derived from sequential digital elevation models (DEMs), we found that, between 1962 and 2006, Alaskan glaciers lost 41.9 ± 8.6 km**3/yr water equivalent (w.e.) and contributed 0.12±0.02 mm/yr to SLR. Our ice loss is 34% lower than previous estimates. Reasons for our lower values include the higher spatial resolution of our glacier inventory and the reduction of ice thinning under debris and at the glacier margins which were not resolved in earlier work. Estimates of mass loss from GIC in other mountain regions could be subject to similar revisions