Genetic diversity at the FMR1 locus in the Indonesian population

We report an analysis of allelic diversity at short tandem repeat polymorphisms within the fragile XA locus in 1069 male volunteers from twelve Indonesian sub-populations. An odd numbered allele of DXS548 was found at high frequency in all Indonesian populations. Greater allelic diversity was identified at the loci under study than has been previously reported for an Asian population. These differences distinguish the Indonesian population from all previously reported Asian, European and African populations. A high frequency of small premutation alleles, 4/120 (3.3%, 95% CI 0.9–8.3%), was identified in the Moluccan population of Hiri Island

Negotiating sexuality and masculinity in school sport: An autoethnography

This autoethnography explores challenging and ethically sensitive issues around sexual orientation, sexual identity and masculinity in the context of school sport. Through storytelling, I aim to show how sometimes ambiguous encounters with heterosexism, homophobia and hegemonic masculinity through sport problematise identity development for young same-sex attracted males. By foregrounding personal embodied experience, I respond to an absence of stories of gay and bisexual experiences among males in physical education and school sport, in an effort to reduce a continuing sense of Otherness and difference regarding same-sex attracted males. I rely on the story itself to express the embodied forms of knowing that inhabit the experiences I describe, and resist a finalising interpretation of the story. Instead, I offer personal reflections on particular theoretical and methodological issues which relate to both the form and content of the story

Alpha-decay damage and recrystallization in zircon: evidence for an intermediate state from infrared spectroscopy

α-decay damage and recrystallization in natural zircon (with dose ranging from 0.06 to 23.3×1018 α-events g -1) were studied using polarized reflection infrared spectroscopy. The experimental results show that α-decay damage leads to a gradual decrease in reflectivity and a loss of anisotropy of IR spectra. Recrystallization of damaged zircon is found as a multi-stage process with a strong dependence on the initial degree of damage. In weakly and moderately damaged samples the major recrystallization takes place near 1000 K. Annealed samples recrystallize epitaxially along their original crystallographic orientations. A highly damaged zircon with radiation dose of 15.9×1018 α-events g -1 decomposes into SiO2 and ZrO2 near 1100 K. In this sample the growth of ZrSiO4 from the binary oxides occurs between 1400 and 1500 K. An additional IR signal peaked near 790 cm -1 is detected in moderately damaged samples annealed at temperatures higher than 800 K. This peak is sharp and isotropic. The peak tends to disappear at temperatures above 1400 K. This signal may be related to an unknown intermediate phase caused by heating of radiation-damaged zircon. Alternatively, the signal may be due to the structural distortions near the boundaries between the amorphized and crystalline regions.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/48885/2/c02410.pd

Remembering, Reflecting, Returning: A Return to Professional Practice Journey Through Poetry, Music and Images:A Return to Professional Practice Journey Through Poetry, Music and Images

<p>Our composition brings together poetry, music, images and personal narratives based around the experiences of an occupational therapist, Karen, who following a family career break, returned to her profession. Our work demonstrates collaborative research practices and illuminates our experiences and journeying as practitioner-artists/researchers/teachers.</p> <p>This autoethnographic inquiry employs bricolage, drawing on theory and hybridized methods, inspired by the notion of ‘returning to practice’. The conversations of Karen and Katherine (mentee and mentor) as qualitative data, analyzed, interpreted and made accessible through poetry and images – along with Peter’s musical and autobiographical compositions – explore possibilities to re-examine and share alternative avenues of scholarship and theoretical understanding, not least in redefining what contribution to knowledge that artistic processes and ‘artwork’ makes methodologically, pedagogically, aesthetically, and therapeutically. Our intention is to engage the reader-viewer-listener to (re)think, take notice, disrupt, re-examine and extend personal meanings about return to practice journeys, enabling each of us to benefit and be (re)inspired.</p> <p>We recast aspects of ‘knowing and experience’ metaphorically, to consider and express our sense of being and becoming in the world. Importantly, we seek to explore how arts informed ways of knowing and learning about the self and other can serve to enhance our students/researchers/practitioners learning experiences.</p

Engaging with arts-based research: A story in three parts

Qualitative psychology researchers of today face numerous practical, ethical, political and theoretical challenges. We have often asked ourselves how we might respond to these multiple and complex challenges. On our evolving research journeys, we have found that arts-based methodologies offer one effective response. We explore here our experiences of doing arts-based research in psychological contexts, by sharing and reflecting on three short stories. The stories illustrate how each arts-based project has required of us three distinct waves of engagement: interdependent engagement with people and place, aesthetic engagement with sense making processes, and emotional engagement with – and of – audiences. We use the story form to evoke each wave of engagement because it allows us to communicate the qualities of that engagement without finalising, foreclosing or restricting the variety of ways arts-based research might be conducted

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK

Accurate clinical diagnosis of the spino-cerebellar ataxias (SCAs) can be diffcult because of overlap in phenotype with other disorders and variation in clinical manifestations. Six SCA loci have been mapped and four disease causing genes identified, in addition to the causative gene for Friedreich's ataxia (FA). All of the identified mutations are expansions of trinucleotide repeat tracts. The SCA2 and SCA6 genes were published recently. The extent of the normal CAG size ranges at these loci and the relative frequencies of the known causes of SCA in the UK are not known. This study first investigated the normal size ranges of the SCA2 and SCA6 loci by genotyping control populations of West African and South African subjects, since African populations generally show the greatest allelic diversity. We found one allele larger than the previously determined normal range for SCA2, and our results at the SCA6 locus agreed with the previously reported normal range. The second component of the study assessed the relative frequencies of the SCA1, 2, 3, and 6, DRPLA, and FA trinucleotide repeat mutations in 146 patients presenting with SCA-like symptoms referred to genetic diagnostic laboratories in the UK. We detected mutations in 14% of patients referred with a diagnosis of autosomal dominant SCA, and in 15% of patients referred with spinocerebellar ataxia where we did not have sufficient family history data available to allow categorisation as familial or sporadic cases. Friedreich's ataxia accounted for 3% of the latter category of cases in our sample, but the most common causes of SCA were SCA2 and SCA6.Articl