On the Analysis and Interpretation of Pottery Production and Distribution

Ceramics are particularly well suited for investigating general patterns of the distribution of premodern products. Archaeometric methods, used to determine raw materials and production techniques, permit the identification of places of production. The work of the research group presented here pursues two objectives: (i) to investigate the usefulness of portable X-ray fluorescence equipment for the analysis of ceramics and (ii) to identify, interpret and study distribution areas of ceramic products in comparative prospective. The paper discusses key economic concepts, sets out the archaeometric methodology and presents initial results in the context of two examples

HNPCC: Six new pathogenic mutations

BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. METHODS: Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. RESULTS: We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6) resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702]), three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298]) and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]). All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H). CONCLUSIONS: HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes

The Politics of Love and Intimacy in Goma, Eastern DR Congo: Perspectives on the Market of Intervention as Contact Zone

This paper takes an ethnographic approach to illuminate everyday interactions relating to physical intimacy and emotional support in Goma's 'market of intervention'. I offer insights into the heterogeneity and complexity of gender identities in the context of protracted war and humanitarian intervention. Conceptualised as a contact zone, the market of intervention illustrates processes of encounter and distancing in Goma's urban space. In particular, the paper offers concrete perspectives on the ambivalent practice of transactional sex and examines it in terms of a conflict between morality and materiality that shapes and (re)configures local gender relations. Taking the issue of love and sex seriously allows one to hone in on processes of profound societal change that challenge constructed and contested notions of femininity and masculinity