180 research outputs found
Pseudo-Foster Kennedy Syndrome due to unilateral optic nerve hypoplasia: a case report
<p>Abstract</p> <p>Introduction</p> <p>Pseudo-Foster Kennedy Syndrome is described as unilateral optic disc swelling with contralateral optic atrophy in the absence of an intracranial mass causing compression of the optic nerve. This occurs typically due to bilateral sequential optic neuritis or ischaemic optic neuropathy.</p> <p>Case Presentation</p> <p>We describe a case of pseudo-Foster Kennedy Syndrome in a two year old boy with unilateral papilloedema due to a congenital optic disc anomaly in one eye preventing transmission of raised intracranial pressure to the optic nerve.</p> <p>Conclusion</p> <p>From our findings we conclude that congenital optic nerve hypoplasia is a cause of pseudo-Foster Kennedy Syndrome.</p
Immigrant community integration in world cities
As a consequence of the accelerated globalization process, today major cities
all over the world are characterized by an increasing multiculturalism. The
integration of immigrant communities may be affected by social polarization and
spatial segregation. How are these dynamics evolving over time? To what extent
the different policies launched to tackle these problems are working? These are
critical questions traditionally addressed by studies based on surveys and
census data. Such sources are safe to avoid spurious biases, but the data
collection becomes an intensive and rather expensive work. Here, we conduct a
comprehensive study on immigrant integration in 53 world cities by introducing
an innovative approach: an analysis of the spatio-temporal communication
patterns of immigrant and local communities based on language detection in
Twitter and on novel metrics of spatial integration. We quantify the "Power of
Integration" of cities --their capacity to spatially integrate diverse
cultures-- and characterize the relations between different cultures when
acting as hosts or immigrants.Comment: 13 pages, 5 figures + Appendi
Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood
Background: Osteoporosis individual susceptibility is determined by the interaction of multiple genetic variants
and environmental factors. The aim of this study was to conduct SNP-SNP interaction analyses in candidate genes
influencing heel quantitative ultrasound (QUS) parameter in early adulthood to identify novel insights into the
mechanism of disease.
Methods: The study population included 575 healthy subjects (mean age 20.41; SD 2.36). To assess bone mass QUS
was performed to determine Broadband ultrasound attenuation (BUA, dB/MHz). A total of 32 SNPs mapping to loci
that have been characterized as genetic markers for QUS and/or BMD parameters were selected as genetic markers
in this study. The association of all possible SNP pairs with QUS was assessed by linear regression and a SNP-SNP
interaction was defined as a significant departure from additive effects.
Results: The pairwise SNP-SNP analysis showed multiple interactions. The interaction comprising SNPs rs9340799
and rs3736228 that map in the ESR1 and LRP5 genes respectively, revealed the lowest p value after adjusting for
confounding factors (p-value = 0.001, β (95% CI) = 14.289 (5.548, 23.029). In addition, our model reported others
such as TMEM135-WNT16 (p = 0.007, β(95%CI) = 9.101 (2.498, 15.704), ESR1-DKK1 (p = 0.012, β(95%CI) = 13.641 (2.
959, 24.322) or OPG-LRP5 (p = 0.012, β(95%CI) = 8.724 (1.936, 15.512). However, none of the detected interactions
remain significant considering the Bonferroni significance threshold for multiple testing (p<0.0001).
Conclusion: Our analysis of SNP-SNP interaction in candidate genes of QUS in Caucasian young adults reveal several
interactions, especially between ESR1 and LRP5 genes, that did not reach statistical significance. Although our results do
not support a relevant genetic contribution of SNP-SNP epistatic interactions to QUS in young adults, further studies in
larger independent populations would be necessary to support these preliminary findings.This study was supported by a grant PI-0414-2014 from Consejería de Salud
(Junta de Andalucía, Spain). Correa-Rodríguez M is a predoctoral fellow (FPU13/
00143) from the Ministerio de Educación, Cultura y Deporte (Programa de
Formación del Profesorado Universitario)
Does Selective Migration Explain the Hispanic Paradox?: A Comparative Analysis of Mexicans in the U.S. and Mexico
Latino immigrants, particularly Mexican, have some health advantages over U.S.-born Mexicans and Whites. Because of their lower socioeconomic status, this phenomenon has been called the epidemiologic “Hispanic Paradox.” While cultural theories have dominated explanations for the Paradox, the role of selective migration has been inadequately addressed. This study is among the few to combine Mexican and U.S. data to examine health selectivity in activity limitation, self-rated health, and chronic conditions among Mexican immigrants, ages 18 and over. Drawing on theories of selective migration, this study tested the “healthy migrant” and “salmon-bias” hypotheses by comparing the health of Mexican immigrants in the U.S. to non-migrants in Mexico, and to return migrants in Mexico. Results suggest that there are both healthy migrant and salmon-bias effects in activity limitation, but not other health aspects. In fact, consistent with prior research, immigrants are negatively selected on self-rated health. Future research should consider the complexities of migrants’ health profiles and examine selection mechanisms alongside other factors such as acculturation
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered
Collaborative Sociological Practice: the Case of Nine Urban Biotopes
This paper examines the socially engaged art project Nine Urban Biotopes (9UB), an international exchange between European and South African cultural organisations. Two artist residencies offer case studies of collaborative arts and research practice. The ways that these case studies are read as ‘failures’ and ‘successes’ illustrate the complexities of North- South collaborations. This project, the partnership that sustained it and the residencies that were central to it, exemplify, in modest ways, how public sociology can be realised in modest ways in a global context. This paper shows, with examples, that whilst partnership and collaboration are emphasised in institutional and policy discourse, in practice these arrangements are filled with tension and unequal power relations between partners. An evaluative methodology premised on sociological practice allows the tensions that are inherent in partnership and collaboration to be recognised and productively interrogated. It also allows us to reimagine what ‘success’ and ‘failure’ looks like in research partnerships by working with the antagonisms that are integral to collaboration
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