104 research outputs found
Histological subtype is the most important determinant of survival in metastatic papillary thyroid cancer
<p>Abstract</p> <p>Background</p> <p>Papillary thyroid cancer (PTC) comprises the commonest type of thyroid cancer and carries the highest rate of survival. However, when metastatic disease occurs, survival is significantly affected.</p> <p>Methods</p> <p>We aimed to identify prognostic histopathological and clinical factors that modify survival in metastatic PTC. All cases of metastatic PTC treated at our department in the last 20 years were reviewed and analyzed.</p> <p>Results</p> <p>Histological subtype was the most important determinant of survival, as classic PTC demonstrated clearly improved survival compared to follicular subtype of PTC and other less frequently seen histological subtypes. The instant risk of death for the other histological subtypes was 4.56 times higher than the risk for the classic papillary type. Overall, a 10-year survival of 76.6% in our patients was seen.</p> <p>Conclusions</p> <p>Patients with aggressive variants of PTC are more at risk for the development of metastatic disease. In these patients, established treatment modalities (surgery, radioiodine therapy) should be offered promptly, as well as close follow-up.</p
Healthier and Independent Living of the Elderly: Interoperability in a Cross-Project Pilot
The ageing of the population creates new heterogeneous challenges for age-friendly living. The progressive decline in physical and cognitive skills tends to prevent elderly people from performing basic instrumental activities of daily living and there is a growing interest in technology for aging support. Digital health today can be exercised by anyone owning a smartphone and parameters such as heart rate, step counts, calorie intake, sleep quality, can be collected and used not only to monitor and improve the individual’s health condition but also to prevent illnesses. However, for the benefits of e-health to take place, digital health data, either Electronic Health Records (EHR) or sensor data from the IoMT, must be shared, maintaining privacy and security requirements but unlocking the potential for research an innovation throughout EU. This paper demonstrates the added value of such interoperability requirements, and a form of accomplishing them through a cross-project pilot
Birth characteristics and risk of colorectal cancer: a study among Swedish twins
Type-2 diabetes increases the risk of colorectal cancer, and is also associated with low birth weight. However, we found no evidence of associations between birth characteristics and risk of colorectal cancer (m=248) among Swedish twins
Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: heritabilities
AIMS/HYPOTHESIS: We determined the genetic contribution of 18 anthropometric and metabolic risk factors of type 2 diabetes using a young healthy twin population. METHODS: Traits were measured in 240 monozygotic (MZ) and 138 dizygotic (DZ) twin pairs aged 18 to 34 years. Twins were recruited from the Belgian population-based East Flanders Prospective Twin Survey, which is characterised by its accurate zygosity determination and extensive collection of perinatal and placental data, including information on chorionicity. Heritability was estimated using structural equation modelling implemented in the Mx software package. RESULTS: Intra-pair correlations of the anthropometric and metabolic characteristics did not differ between MZ monochorionic and MZ dichorionic pairs; consequently heritabilities were estimated using the classical twin approach. For body mass, BMI and fat mass, quantitative sex differences were observed; genetic variance explained 84, 85 and 81% of the total variation in men and 74, 75 and 70% in women, respectively. Heritability estimates of the waist-to-hip ratio, sum of four skinfold thicknesses and lean body mass were 70, 74 and 81%, respectively. The heritability estimates of fasting glucose, fasting insulin, homeostasis model assessment of insulin resistance and beta cell function, as well as insulin-like growth factor binding protein-1 levels were 67, 49, 48, 62 and 47%, in that order. Finally, for total cholesterol, LDL-cholesterol, HDL-cholesterol, total cholesterol:HDL-cholesterol ratio, triacylglycerol, NEFA and leptin levels, genetic factors explained 75, 78, 76, 79, 58, 37 and 53% of the total variation, respectively. CONCLUSIONS/INTERPRETATION: Genetic factors explain the greater part of the variation in traits related to obesity, glucose intolerance/insulin resistance and dyslipidaemia
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Overview of the SMART-BEAR Technical Infrastructure
This paper describes a cloud-based platform that offers evidence-based, personalised interventions powered by Artificial Intelligence to help support efficient remote monitoring and clinician-driven guidance to people over 65 who suffer or are at risk of hearing loss, cardiovascular diseases, cognitive impairments, balance disorders, and mental health issues. This platform has been developed within the SMART-BEAR integrated project to power its large-scale clinical pilots and comprises a standards-based data harmonisation and management layer, a security component, a Big Data Analytics system, a Clinical Decision Support tool, and a dashboard component for efficient data collection across the pilot sites
Rabies outbreak in Greece during 2012-2014: use of Geographical Information System for analysis, risk assessment and control
The objectives of this work were (i) geographical analysis of the 2012–2014 outbreak of rabies in Greece using GIS and (ii) comparative analysis of animal cases with data of potential human exposure to rabies together with environmental data, in order to provide information for risk assessment, effective monitoring and control. Most animal cases (40/48) involved red foxes, while domestic animals were also diagnosed with rabies. Overall, 80% of the cases were diagnosed in central northern Greece; 75% of the cases were diagnosed in low altitudes (<343·5 m), within a distance of 1 km from human settlements. Median distance from livestock farms was 201·25 m. Most people potentially exposed to rabies (889/1060) presented with dog bite injuries. Maximum entropy analysis revealed that distance from farms contributed the highest percentage in defining environmental niche profiles for rabid foxes. Oral vaccination programmes were implemented in 24 administrative units of the country during 2013 and 2014, covering a total surface area of ~60 000 km2. Rabies re-occurrence in Greece emphasizes the need for ongoing surveillance in cross-border areas and in areas with intense human activity
ExoClock Project. III. 450 New Exoplanet Ephemerides from Ground and Space Observations
The ExoClock project has been created to increase the efficiency of the Ariel mission. It will achieve this by continuously monitoring and updating the ephemerides of Ariel candidates, in order to produce a consistent catalog of reliable and precise ephemerides. This work presents a homogenous catalog of updated ephemerides for 450 planets, generated by the integration of ∼18,000 data points from multiple sources. These sources include observations from ground-based telescopes (the ExoClock network and the Exoplanet Transit Database), midtime values from the literature, and light curves from space telescopes (Kepler, K2, and TESS). With all the above, we manage to collect observations for half of the postdiscovery years (median), with data that have a median uncertainty less than 1 minute. In comparison with the literature, the ephemerides generated by the project are more precise and less biased. More than 40% of the initial literature ephemerides had to be updated to reach the goals of the project, as they were either of low precision or drifting. Moreover, the integrated approach of the project enables both the monitoring of the majority of the Ariel candidates (95%), and also the identification of missing data. These results highlight the need for continuous monitoring to increase the observing coverage of the candidate planets. Finally, the extended observing coverage of planets allows us to detect trends (transit-timing variations) for a sample of 19 planets. All the products, data, and codes used in this work are open and accessible to the wider scientific community
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesOver the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15).We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls).We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P = 9 × 10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23.This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4.National Institutes of Mental Health (NIMH, USA)
ACE Network
Autism Genetic Resource Exchange (AGRE) is a program of Autism Speaks (USA)
The Autism Genome Project (AGP) from Autism Speaks (USA)
Canadian Institutes of Health Research (CIHR), Genome Canada
Health Research Board (Ireland)
Hilibrand Foundation (USA)
Medical Research Council (UK)
National Institutes of Health (USA)
Ontario Genomics Institute
University of Toronto McLaughlin Centre
Simons Foundation
Johns Hopkins
Autism Consortium of Boston
NLM Family foundation
National Institute of Health grants
National Health Medical Research Council
Scottish Rite
Spunk Fund, Inc.
Rebecca and Solomon Baker Fund
APEX Foundation
National Alliance for Research in Schizophrenia and Affective Disorders (NARSAD)
endowment fund of the Nancy Pritzker Laboratory (Stanford)
Autism Society of America
Janet M. Grace Pervasive Developmental Disorders Fund
The Lundbeck Foundation
universities and university hospitals of Aarhus and Copenhagen
Stanley Foundation
Centers for Disease Control and Prevention (CDC)
Netherlands Scientific Organization
Dutch Brain Foundation
VU University Amsterdam
Trinity Centre for High Performance Computing through Science Foundation Ireland
Autism Genome Project (AGP) from Autism Speak
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