Frequency of mutations and polymorphisms in borderline ovarian tumors of known cancer genes.

Borderline ovarian tumors represent an understudied subset of ovarian tumors. Most studies investigating aberrations in borderline tumors have focused on KRAS/BRAF mutations. In this study, we conducted an extensive analysis of mutations and single-nucleotide polymorphisms (SNPs) in borderline ovarian tumors. Using the Sequenom MassArray platform, we investigated 160 mutations/polymorphisms in 33 genes involved in cell signaling, apoptosis, angiogenesis, cell cycle regulation and cellular senescence. Of 52 tumors analyzed, 33 were serous, 18 mucinous and 1 endometrioid. KRAS c.35G>A p.Gly12Asp mutations were detected in eight tumors (six serous and two mucinous), BRAF V600E mutations in two serous tumors, and PIK3CA H1047Y and PIK3CA E542K mutations in a serous and an endometrioid BOT, respectively. CTNNB1 mutation was detected in a serous tumor. Potentially functional polymorphisms were found in vascular endothelial growth factor (VEGF), ABCB1, FGFR2 and PHLPP2. VEGF polymorphisms were the most common and detected at four loci. PHLPP2 polymorphisms were more frequent in mucinous as compared with serous tumors (P=0.04), with allelic imbalance in one case. This study represents the largest and most comprehensive analysis of mutations and functional SNPs in borderline ovarian tumors to date. At least 25% of borderline ovarian tumors harbor somatic mutations associated with potential response to targeted therapeutics.

School and Community Screening Shows Malawi, Africa, to Have a High Prevalence of Latent Rheumatic Heart Disease

Rheumatic heart disease (RHD) is the largest cardiac cause of morbidity and mortality in the world's youth. Early detection of RHD through echocardiographic screening in asymptomatic children may identify an early stage of disease, when secondary prophylaxis has the greatest chance of stopping disease progression. Latent RHD signifies echocardiographic evidence of RHD with no known history of acute rheumatic fever and no clinical symptoms.

OBJECTIVE: Determine the prevalence of latent RHD among children ages 5-16 in Lilongwe, Malawi.

DESIGN: This is a cross-sectional study in which children ages 5 through 16 were screened for RHD using echocardiography.

SETTING: Screening was conducted in 3 schools and surrounding communities in the Lilongwe district of Malawi between February and April 2014.

OUTCOME MEASURES: Children were diagnosed as having no, borderline, or definite RHD as defined by World Heart Federation criteria. The primary reader completed offline reads of all studies. A second reader reviewed all of the studies diagnosed as RHD, plus a selection of normal studies. A third reader served as tiebreaker for discordant diagnoses. The distribution of results was compared between gender, location, and age categories using Fisher's exact test.

RESULTS: The prevalence of latent RHD was 3.4% (95% CI = 2.45, 4.31), with 0.7% definite RHD and 2.7% borderline RHD. There was no significant differences in prevalence between gender (P = .44), site (P = .6), urban vs. peri-urban (P = .75), or age (P = .79). Of those with definite RHD, all were diagnosed because of pathologic mitral regurgitation (MR) and 2 morphologic features of the mitral valve. Of those with borderline RHD, most met the criteria by having pathological MR (92.3%).

CONCLUSION: Malawi has a high rate of latent RHD, which is consistent with other results from sub-Saharan Africa. This study strongly supports the need for a RHD prevention and control program in Malawi.

Picking on vulnerable migrants: precarity and the mushroom industry in Northern Ireland

This article examines precarious employment in the context of the mushroom industry in Northern Ireland. Migrant workers engaged in mushroom picking were interviewed in the context of wider research investigating forced labour in Northern Ireland. The research found that, while the boundaries between exploitation and forced labour are complex and difficult to discern, there was some evidence of borderline forced labour, according to ILO definitions. However, workers found themselves on a ‘continuum of exploitation’, where initial engagement with the prospect of decent work was superseded by increasing endurance of exploitative practices, brought about by unequal power relationships with employers originating in immigration status. This is examined in the wider theoretical context of precarity, of which precarious employment comprises a part.

Individual differences in speech and language ability profiles in areas of high deprivation

Speech and language ability is not a unitary concept; rather, it is made up of multiple abilities such as grammar, articulation and vocabulary. Young children from socio-economically deprived areas are more likely to experience language difficulties than those living in more affluent areas. However, less is known about individual differences in language difficulties amongst young children from socio-economically deprived backgrounds. The present research examined 172 four-year-old children from socio-economically deprived areas on standardised measures of core language, receptive vocabulary, articulation, information conveyed and grammar. Of the total sample, 26% had difficulty in at least one area of language. While most children with speech and language difficulty had generally low performance in all areas, around one in 10 displayed more uneven language abilities. For example, some children had generally good speech and language ability, but had specific difficulty with grammar. In such cases their difficulty is masked somewhat by good overall performance on language tests but they could still benefit from intervention in a specific area. The analysis also identified a number of typically achieving children who were identified as having borderline speech and language difficulty and should be closely monitored