Search results for "STICS"

Characterisation of a household norovirus outbreak occurred in Valencia (Spain)

2016

Background Human noroviruses (NoVs) are the main cause of non-bacterial gastroenteritis worldwide. Several studies have linked human susceptibility to NoVs with the expression of histo-blood group antigens (HBGAs). In January 2012, a NoV gastroenteritis outbreak affected a household in Valencia, Spain, and the personal susceptibility to NoV was investigated. Methods To reach this aim 8 members of the affected household were recruited for this study and their secretor status, ABO and Lewis antigens were determined. NoV-specific saliva IgA and serum IgG antibody titers were analyzed. Their capacity to block viral binding to saliva receptors was analyzed, using virus-like particles (VLPs) of t…

Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with cli…

2020

To evaluate the feasibility of acoustic radiation force impulse point shear wave elastography (ARFI-pSWE) of the liver and spleen in patients with Gaucher disease type 1 (GD1), and to assess correlations between organ stiffness and clinico-radiologic data, particularly the GD1 Severity Scoring System (GD-DS3).We retrospectively evaluated the results of ARFI-pSWE as measures of liver and spleen stiffness in 57 patients with GD1. The feasibility of the method was assessed. Correlations between elastography data and clinical data related to the metabolic syndrome, laboratory tests, and GD1-related clinico-radiologic data (bone marrow burden score, GD-DS3) were assessed.ARFI-pSWE provided relia…

The close link between the fetal programming imprinting and neurodegeneration in adulthood: The key role of “hemogenic endothelium” programming

2021

The research on neurodegenerative diseases (NeuroDegD) has been traditionally focused on later life stages. There is now an increasing evidence, that they may be programmed during early development. Here, we propose that NeuroDegD are the result of the complex process of imprinting on fetal hemogenic endothelium, from which the microglial cells make to origin. The central role of placenta and epigenetic mechanisms (methylation of DNA, histone modifications and regulation by non-coding RNAs) in mediating the short and long-term effects has been also described. Precisely, it reports their role in impacting plasticity and memory of microglial cells. In addition, we also underline the necessity…

Heterogeneous Indicators of Cognitive Performance and Performance Variability Across the Lifespan

2020

Reaction time (RT) and RT variability are core components of cognitive performance that can be captured through brief and easy-to-administer tasks of simple RT and choice RT. The current study aims to describe age-related differences in cognitive performance, toward better characterizing normative performance across the lifespan. We examined mean and variability of response times on a simple RT and choice RT tasks in a large and diverse web-based sample (10,060 visitors to TestMyBrain.org). We also examined lifespan-related differences in response time variability using multiple different approaches (raw variability, mean scaled variability, and mean residualized variability). These analyse…

Transferability of PCR-based diagnostic protocols: An international collaborative case study assessing protocols targeting the quarantine pine pathog…

2019

Producción Científica

Active biopackaging produced from by‐products and waste from food and marine industries

2021

The agro‐food industry cannot today do without packaging to preserve and above all market its products. Plastic materials coming mainly from petrochemicals have taken a predominant place in the food packaging sector. They have become indispensable in many sectors, from fresh to frozen products, from meat and dairy products to fruit and vegetables or almost‐ready meals. Plastics are cheap, their lightness reduces transport costs, and their convenience is fundamental for out‐of‐home catering. However, plastics pose serious end‐of‐life issues. The development of materials that are more respectful of the consumer and the environment has become a major issue. In addition, the agro‐food industrie…

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

2018

Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (rel…

The genetic prehistory of the Baltic Sea region

2018

Correction: Nature communications 9 (2018), art. no. 1494 doi:10.1038/s41467-018-03872-y While the series of events that shaped the transition between foraging societies and food producers are well described for Central and Southern Europe, genetic evidence from Northern Europe surrounding the Baltic Sea is still sparse. Here, we report genome-wide DNA data from 38 ancient North Europeans ranging from similar to 9500 to 2200 years before present. Our analysis provides genetic evidence that hunter-gatherers settled Scandinavia via two routes. We reveal that the first Scandinavian farmers derive their ancestry from Anatolia 1000 years earlier than previously demonstrated. The range of Mesolit…

2018

The retrieval of ancient DNA from osteological material provides direct evidence of human genetic diversity in the past. Ancient DNA samples are often used to investigate whether there was population continuity in the settlement history of an area. Methods based on the serial coalescent algorithm have been developed to test whether the population continuity hypothesis can be statistically rejected by analysing DNA samples from the same region but of different ages. Rejection of this hypothesis is indicative of a large genetic shift, possibly due to immigration occurring between two sampling times. However, this approach is only able to reject a model of full continuity model (a total absenc…

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

2016

BACKGROUND Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for sequencing has traditionally entailed high costs and long turnaround times. Exome sequencing has begun to supplant single targeted genes, but there are concerns regarding coverage and needed depth of the very large and complex genes that frequently cause myopathies. OBJECTIVE To evaluate efficiency of next-generation sequencing technologies to provide molecular diagnostics for patients with previously undiagnosed myopathies. METHODS We tested a targeted re-sequencing approach, using a 45…