98 research outputs found
The emerging complexity of Open Science: assessing Intelligent Data Openness in Genomic Anthropology and Human Genomics
No full textIn recent decades, the scientific community has become aware of the importance of science being effectively open in order to speed up scientific and technological progress. In this context, the achievement of a robust, effective and responsible form of data sharing is now widely acknowledged as a fundamental part of the research process. The production and resolution of human genomic data has steadily increased in recent years, mainly due to technological advances and decreasing costs of DNA genotyping and sequencing. There is, however, a downside to this process due to the huge increase in the complexity of the data and related metadata. This means it is advisable to go beyond traditional forms of sharing analysis, which have focused on data availability only. Here we present a pilot study that aims to complement a survey on the availability of data related to peer-reviewed publications with an analysis of their findability, accessibility, useability and assessability (according to the “intelligent data openness” scheme). Sharing rates in genomic anthropology (73.0%) were found to be higher than human genomics (32.4%), but lower than closely related research fields (from 96.8% to 79.2% for paleogenetics and evolutionary genetics, respectively). We discuss the privacy and methodological issues that could be linked to this finding. Comparisons of sharing rates across a wide range of disciplines has suggested that the idea of human genomics as a forerunner for the open data movement should be questioned. Finally, both in genomic anthropology and human genomics, findability and useability were found to be compliant with the expectations of an intelligent data openness, whereas only a minor part of studies met the need to make the data completely assessable
Appendicitis in a 14-month-old infant with respiratory symptoms
Get PDFAlthough appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment
Static and Moving Frontiers: The Genetic Landscape of Southern African Bantu-Speaking Populations
Get PDFA consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but the demographic scenarios associated with their dispersal are still a matter of debate. The frontier model proposed by archeologists postulates different degrees of interaction among incoming agropastoralist and resident foraging groups in the presence of "static" and "moving" frontiers. By combining mitochondrial DNA and Y chromosome data collected from several southern African populations, we show that Bantu-speaking populations from regions characterized by a moving frontier developing after a long-term static frontier have larger hunter-gatherer contributions than groups from areas where a static frontier was not followed by further spatial expansion. Differences in the female and male components suggest that the process of assimilation of the long-term resident groups into agropastoralist societies was gender biased. Our results show that the diffusion of Bantu languages and culture in Southern Africa was a process more complex than previously described and suggest that the admixture dynamics between farmers and foragers played an important role in shaping the current patterns of genetic diversity
OFFERTA IMPRENDITORIALE ALLA COMMITTENZA PUBBLICA
No full textedito dall'Istituto di Edilizia e Unioncamere delle Marche Ancona 198
ASPETTI STRUTTURALI E LINEE EVOLUTIVE DELLE IMPRESE DI COSTRUZIONI
No full textedito dall'Istituto di Edilizia e Unioncamere delle Marche, Ancona 198
Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths
No full textDrug-induced arrhythmia is an adverse drug reaction that can be potentially fatal since it is mostly related to drug-induced QT prolongation, a known risk factor for Torsade de Pointes and sudden cardiac death (SCD). Several risk factors have been described in association to these drug-induced events, such as preexistent cardiac disease and genetic variation. Our objective was to study the genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying suspected drug-induced arrhythmias and sudden unexplained deaths in 32 patients. The genetic component in the pharmacodynamic pathway was studied by analysing 96 genes associated with higher risk of SCD through massive parallel sequencing. Pharmacokinetic-mediated genetic susceptibility was investigated by studying the genes encoding cytochrome P450 enzymes using medium-throughput genotyping. Pharmacodynamic analysis showed three probably pathogenic variants and 45 variants of uncertain significance in 28 patients, several of them previously described in relation to mild or late onset cardiomyopathies. These results suggest that genetic variants in cardiomyopathy genes, in addition to those related with channelopathies, could be relevant to drug-induced cardiotoxicity and contribute to the arrhythmogenic phenotype. Pharmacokinetic analysis showed three patients that could have an altered metabolism of the drugs they received involving CYP2C19 and/or CYP2D6, probably contributing to the arrhythmogenic phenotype. The study of genetic variants in both pharmacodynamic and pharmacokinetic pathways may be a useful strategy to understand the multifactorial mechanism of drug-induced events in both clinical practice and forensic field. However, it is necessary to comprehensively study and evaluate the contribution of the genetic susceptibility to drug-induced cardiotoxicity
Surgical treatment of toraco-abdominal teratoma diagnosed in utero, approached with mini-invasive technique: A case report
No full textThoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely from the lung parenchyma. Mediastinal teratoma occur in the anterior mediastinum and are usually very large at presentation; initial treatment is under discussion, but it appears that surgical excision and histological examination are the treatments of choice and it will determine whether the lesion is benign or malignant. The authors report a case of thoracic-abdominal teratoma, diagnosed in utero, and treated successfully with thoracoscopy and laparoscopy. No complication was described in short follow up, and the child was discharged in day 8 th postoperative day. Histology showed mature teratoma. Follow-up at one year: no evidence of recurrence. Due to the rarity of multifocal teratoma in newborns, author believe that mini-invasive technique was useful to stage histological the mass, giving the opportunity to plans a second stage in treatment of the patient. Day of hospitalization resulted shorter in both surgical approaches, and discomfort less for the thoracic approach. This staging must be anyway planned, in the way of prenatal counselling and in the perinatal period, with the team involved in the procedure, that include anaesthetists, oncology staff, obstetricians, neonatologists and pediatric surgeons. It is mandatory in cases like the one reported that a multisciplinary team manage the patients and expert surgeons, especially in minimal invasive surgery, make the adequate plans
Phylogenetic evidence for multiple independent duplication events at the DYS19 locus
No full textDuplication events at Y chromosome STR loci have been repeatedly described in human populations. DYS19 is probably the best known example and it exhibits duplicate state in individuals from all continents. Despite the large amount of available data, evolutionary relationship between DYS19 duplication-bearing chromosomes has not been so far investigated. We address the genealogical correlation among such chromosomes by analysing newly identified DYS19 duplicated Y chromosomes by SNP genotyping and microsatellite-based network analysis. SNP and network analysis show that DYS19 duplicated Y chromosomes associate with different Y chromosome lineages. These results indicate that DYS19 duplication occurred more than once during human evolution. (C) 2007 Elsevier Ireland Ltd. All rights reserved
Detecting Sex-Biased Gene Flow in African-Americans through the Analysis of Intra- and Inter-Population Variation at Mitochondrial DNA and Y- Chromosome Microsatellites.
No full textThis study reports on variations at the mitochondrial
DNA (mtDNA) hypervariable region 1 (HVR-1)
and at seven Y-chromosome microsatellites in an
African-American population sample from Chicago,
IL, USA. Our results support the hypothesis that the
population studied had undergone a European malebiased
gene flow. We show that comparisons of intraand
inter-population diversity parameters between
African-Americans, Europeans and Africans may
help detect sex-biased gene flow, providing a complement
to quantitative methods to estimate genetic
admixture
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