619 research outputs found

    Geographical distribution of e-cadherin germline mutations in the context of diffuse gastric cancer: A systematic review

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    Hereditary diffuse gastric cancer (HDGC) is a complex and multifactorial inherited cancer predisposition syndrome caused by CDH1 germline mutations. Nevertheless, current CDH1 genetic screening recommendations disregard an unbalanced worldwide distribution of CDH1 variants, impacting testing efficacy and patient management. In this systematic review, we collected and analyzed all studies describing CDH1 variants in gastric cancer patients originating from both highand low-prevalence countries. Selected studies were categorized as family study, series study, and unknown study, according to the implementation of HDGC clinical criteria for genetic testing. Our results indicate that CDH1 mutations are more frequently identified in gastric cancer low-incidence countries, and in the family study group that encompasses cases fulfilling criteria. Considering the type of CDH1 alterations, we verified that the relative frequency of mutation types varies within study groups and geographical areas. In the series study, the missense variant frequency is higher in high-incidence areas of gastric cancer, when compared with non-missense mutations. However, application of variant scoring for putative relevance led to a strong reduction of CDH1 variants conferring increased risk of gastric cancer. Herein, we demonstrate that criteria for CDH1 genetic screening are critical for identification of individuals carrying mutations with clinical significance. Further, we propose that future guidelines for testing should consider GC incidence across geographical regions for improved surveillance programs and early diagnosis of disease.This manuscript was supported by the Italian Ministry of Health (Project Code GR‐2016‐ 02361655) and was partially supported by the Ricerca Corrente and 5 × 1000 funds, and financed by FEDER funds through the Operational Programme for Competitiveness Factors (COMPETE 2020), Programa Operacional de Competitividade e Internacionalização (POCI) and Programa Operacional Regional do Norte (Norte 2020); and by the Portuguese Foundation for Science and Technology (FCT projects PTDC/MED‐GEN/30356/2017 and PTDC/BIM‐ONC/0281/2014). We acknowledge the American Association of Patients with Hereditary Gastric Cancer “No Stomach for Cancer” for funding Figueiredo’s research

    Decision making and risk management in adventure sports coaching

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    Adventure sport coaches practice in environments that are dynamic and high in risk, both perceived and actual. The inherent risks associated with these activities, individuals’ responses and the optimal exploitation of both combine to make the processes of risk management more complex and hazardous than the traditional sports where risk management is focused almost exclusively on minimization. Pivotal to this process is the adventure sports coaches’ ability to make effective judgments regarding levels of risk, potential benefits and possible consequences. The exact nature of this decision making process should form the basis of coaching practice and coach education in this complex and dynamic field. This positional paper examines decision making by the adventure sports coach in these complex, challenging environments and seeks to stimulate debate whilst offering a basis for future research into this topic

    Efficacy of the combination of cisplatin with either gemcitabine and vinorelbine or gemcitabine and paclitaxel in the treatment of locally advanced or metastatic non-small-cell lung cancer: a phase III randomised trial of the Southern Italy Cooperative Oncology Group (SICOG 0101)

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    Triplet regimens were occasionally reported to produce a higher response rate (RR) than doublets in locally advanced or metastatic non-small-cell lung cancer (NSCLC). This trial was conducted to assess (i) whether the addition of cisplatin (CDDP) to either gemcitabine (GEM) and vinorelbine (VNR) or GEM and paclitaxel (PTX) significantly prolongs overall survival (OS) and (ii) to compare the toxicity of PTX-containing and VNR-containing combinations

    Análise citogenética de genótipos promissores do programa de melhoramento genético de Paspalum L.

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    O gênero Paspalum L. (Poaceae) é formado por cerca de 330 espécies, sendo muitas dessas caracterizadas por alto potencial forrageiro no Brasil

    "We're all the same here"—Investigating the rehabilitative climate of a re-rolled sexual offender prison: a qualitative longitudinal study

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    Understanding how individuals with sexual convictions experience prison and its environment is important because such experiences can impact on rehabilitation outcomes. This is the first qualitative longitudinal investigation that explores the experiences of prisoners in a prison exclusively for individuals with sexual convictions over time. The purpose of this research was to explore the rehabilitative and therapeutic climate of a recently re-rolled prison (a general prison turned into a prison only for individuals who have sexually offended) at two time points (T1 at reroll and T2 a year later). The study focuses on prisoners perspectives of the purpose of the prison, experience of prison life, relationships in the prison, and the prison regime over time. Twenty interviews were conducted across the time points and revealed two main superordinate themes “‘Being’ in a prison for individuals with sexual convictions” and “obstructions to change". This research adds to the emerging body of knowledge surrounding the importance of the wider prison environment on the rehabilitation of individuals with sexual convictions and on the benefits and risks of co-locating men who have committed sexual offences in the same prison site. It also has implications wider than rehabilitation of those convicted of sexual offences and has insights for the types of environment and prisoner-staff relationships that are conducive to rehabilitation

    Caracterização citogenética de genótipos de Paspalum L. promissores para o programa de melhoramento.

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    O gênero Paspalum L. (Poaceae) é formado por cerca de 330 espécies, sendo muitas dessas caracterizadas por alto potencial forrageiro no Brasil
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