Somatic mutations of KIT in familial testicular germ cell tumours

Somatic mutations of the KIT gene have been reported in mast cell diseases and gastrointestinal stromal tumours. Recently, they have also been found in mediastinal and testicular germ cell tumours (TGCTs), particularly in cases with bilateral disease. We screened the KIT coding sequence (except exon 1) for germline mutations in 240 pedigrees with two or more cases of TGCT. No germline mutations were found. Exons 10, 11 and 17 of KIT were examined for somatic mutations in 123 TGCT from 93 multiple-case testicular cancer families. Five somatic mutations were identified; four were missense amino acid substitutions in exon 17 and one was a 12bp in-frame deletion in exon 11. Two of seven TGCT from cases with bilateral disease carried KIT mutations compared with 3 out 116 unilateral cases (p = 0.026). The results indicate that somatic KIT mutations are implicated in the development of a minority of familial as well as sporadic TGCT. They also lend support to the hypothesis that KIT mutations primarily take place during embryogenesis such that primordial germ cells with KIT mutations are distributed to both testes

Emergence of a ribotype 244 strain of clostridium difficile associated with severe disease and related to the epidemic ribotype 027 strain

Background. We identified 12 patients with Clostridium difficile infection between July 2011 and March 2012 from whom an unusual C. difficile strain was isolated. This strain had a single-nucleotide deletion of the tcdC gene at position 117 and binary toxin genes, which are characteristic of the hypervirulent ribotype (RT) 027 strain.Methods. A retrospective cohort study of 12 patients infected with C. difficile RT244 and 24 patients infected with non-RT244/non-RT027 strains matched for place of diagnosis and time of collection of specimen was performed. We performed whole-genome sequencing to understand the relationship of the RT244 strain to other C. difficile strains and further understand its virulence potential.Results. Clostridium difficile RT244 was associated with more severe disease and a higher mortality rate. Phylogenomic analysis using core genome single-nucleotide polymorphisms showed that RT244 is in the same genetic clade (clade 2) as RT027 but is distinct from all RT027 strains. The pathogenicity locus of the RT244 strain encodes a variant toxin B, and this was confirmed by demonstration of Clostridium sordellii-like cytopathic effect on Vero cells. Toxin B production in culture supernatants was lower than that seen with a RT027 strain.Conclusions. Our findings demonstrate the pathogenic potential of this RT244 C. difficile strain and emphasize the importance of ongoing surveillance for emergent strains

Ideological group persuasion: A within-person study of how violence, interactivity, and credibility features influence online persuasion

Ideological groups (both non-violent and violent) make extensive use of the Internet for recruiting and other purposes, yet little is known about the effectiveness of the influence of websites of differing ideologies on attitudes and behavior. Furthermore, although credibility and interactivity have been extensively studied in online settings, they have received scant attention with regards to ideological groups. Using a within-subjects design, this study explored how individuals’ attitudes, emotional reactions, behaviors and behavioral intentions are affected by two separate websites, with one promoting a liberal ideology and one promoting a conservative ideology. Results indicated that individuals preferred the liberal ideology, that violent websites led to higher negative affect and lowered perceptions of credibility than the non-violent websites, and that violence decreased the likelihood of taking action. Additionally, high interactivity increased the salience of the credibility manipulations with regards to their impact on the likelihood of taking action

Defining Polyamory: A Thematic Analysis of Lay People’s Definitions

This study aimed to analyze laypeople’s definitions of polyamory and compare definitions presented by people who are not willing to engage in consensual non-monogamy (CNM) and those who are or are willing to be in a CNM relationship. This exploratory qualitative study used data collected from a convenience sample through a web survey, where people answered the question “What does polyamory mean?” We conducted thematic analysis to examine patterns in meaning and used demographic data to compare themes among groups. The final sample comprised 463 participants aged 18–66 years (M = 32.19, SD = 10.02), mostly heterosexual (60%). Of the total sample, 54% were in a monogamous relationship, followed by 21% not in a relationship, and 13% in a non-monogamous relationship. Analysis showed that people define polyamory mostly as a set of behaviors in a relationship, followed by the potential of multiple relationships or feelings for multiple people. Definitions also include emotional, sexual, and ethical aspects. People in CNM relationships are more likely to define polyamory as constituting a potential form of relating, focus more on interpersonal feelings and ethics, and include consent in their definitions than those unwilling to engage in CNM. People in CNM relationships also focus particularly on the non-central role of sex within these relationships, which might challenge assumptions about sexuality in these relationships in clinical and research settings