Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Living with kin in lowland horticultural societies

Postmarital residence patterns in traditional human societies figure prominently in models of hominid social evolution with arguments for patrilocal human bands similar in structure to female-dispersal systems in other African apes. However, considerable flexibility in hunter-gatherer cultures has led to their characterization as primarily multilocal. Horticulturalists are associated with larger, more sedentary social groups with more political inequality and intergroup conflict and may therefore provide additional insights into evolved human social structures. We analyze coresidence patterns of primary kin for 34 New World horticultural societies (6,833 adults living in 243 residential groupings) to show more uxorilocality (women live with more kin) than found for hunter-gatherers. Our findings further point to the uniqueness of human social structures and to considerable variation that is not fully described by traditional postmarital residence typologies. Sex biases in coresident kin can vary according to the scale of analysis (household vs. house cluster vs. village) and change across the life span, with women often living with more kin later in life. Headmen in large villages live with more close kin, primarily siblings, than do nonheadmen. Importantly, human marriage exchange and residence patterns create meta-group social structures, with alliances extending across multiple villages often united in competition against other large alliances at scales unparalleled by other species. © 2012 by The Wenner-Gren Foundation for Anthropological Research. All rights reserved

Long-term follow-up of disability pensioners having musculoskeletal disorders

<p>Abstract</p> <p>Background</p> <p>Previously we have conducted a randomised controlled trial (RCT) to evaluate the effect of a brief cognitive behavioural program with a vocational approach aiming to return disability pensioners with back pain to work, as compared to no intervention. One year after the intervention, 10 participants (22%) who received the program and 5 (11%) in the control group reported to have entered a return to work process. The aims of this study were to evaluate long-term effects of the intervention, and compare this effect to 2 reference populations not participating in the original trial.</p> <p>Methods</p> <p>Three groups of disability pensioners were investigated: 1) Disability pensioners having back pain (n = 89) previously participating in the RCT (randomized to either a brief cognitive behavioural intervention or to a control group), 2) 342 disability pensioners having back pain, but refusing to participate in the study and 3) 449 disability pensioners having other musculoskeletal disorders than back pain. Primary outcome was return to work, defined as a reduction in payment of disability pension.</p> <p>Results</p> <p>Only 2 of 89 (2.3%) participants from the RCT had reduced disability pension at 3-years follow-up, both from the control group. None of the participants that had been in a process of returning to work after 1 year had actually gained employment at 3-years follow-up. In the 2 groups not participating in the previous RCT, only 4 (1.2%) and 8 (1.6%) had returned to work after 3 years respectively.</p> <p>Conclusion</p> <p>The number of pensioners who returned to work was negligible in all groups regardless of having participated in a cognitive behavioural intervention or not.</p

Perfect Fluid Theory and its Extensions

We review the canonical theory for perfect fluids, in Eulerian and Lagrangian formulations. The theory is related to a description of extended structures in higher dimensions. Internal symmetry and supersymmetry degrees of freedom are incorporated. Additional miscellaneous subjects that are covered include physical topics concerning quantization, as well as mathematical issues of volume preserving diffeomorphisms and representations of Chern-Simons terms (= vortex or magnetic helicity).Comment: 3 figure

The relationship between sensory sensitivity and autistic traits in the general population.

Individuals with Autism Spectrum Disorders (ASDs) tend to have sensory processing difficulties (Baranek et al. in J Child Psychol Psychiatry 47:591–601, 2006). These difficulties include over- and under-responsiveness to sensory stimuli, and problems modulating sensory input (Ben-Sasson et al. in J Autism Dev Disorders 39:1–11, 2009). As those with ASD exist at the extreme end of a continuum of autistic traits that is also evident in the general population, we investigated the link between ASD and sensory sensitivity in the general population by administering two questionnaires online to 212 adult participants. Results showed a highly significant positive correlation (r = .775, p &#60; .001) between number of autistic traits and the frequency of sensory processing problems. These data suggest a strong link between sensory processing and autistic traits in the general population, which in turn potentially implicates sensory processing problems in social interaction difficulties

Geographically touring the eastern bloc: British geography, travel cultures and the Cold War

This paper considers the role of travel in the generation of geographical knowledge of the eastern bloc by British geographers. Based on oral history and surveys of published work, the paper examines the roles of three kinds of travel experience: individual private travels, tours via state tourist agencies, and tours by academic delegations. Examples are drawn from across the eastern bloc, including the USSR, Poland, Romania, East Germany and Albania. The relationship between travel and publication is addressed, notably within textbooks, and in the Geographical Magazine. The study argues for the extension of accounts of cultures of geographical travel, and seeks to supplement the existing historiography of Cold War geography