5 resultados para Genotypic diversity

em WestminsterResearch - UK


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We used1H-magnetic resonance spectroscopy to noninvasively determine total creatine (TCr), choline-containing compounds (Cho), and intracellular (IT) and extracellular (between-muscle fibers) triglycerides (ET) in three human skeletal muscles. Subjects' (n = 15 men) TCr concentrations in soleus [Sol; 100.2 ± 8.3 (SE) mmol/kg dry wt] were lower (P < 0.05) than those in gastrocnemius (Gast; 125.3 ± 9.2 mmol/kg dry wt) and tibialis anterior (TA; 123.7 ± 8.8 mmol/kg dry wt). The Cho levels in Sol (35.8 ± 3.6 mmol/kg dry wt) and Gast (28.5 ± 3.5 mmol/kg dry wt) were higher (P < 0.001 andP < 0.01, respectively) compared with TA (13.6 ± 2.4 mmol/kg dry wt). The IT values were found to be 44.8 ± 4.6 and 36.5 ± 4.2 mmol/kg dry wt in Sol and Gast, respectively. The IT values of TA (24.5 ± 4.5 mmol/kg dry wt) were lower than those of Sol (P < 0.01) and Gast (P < 0.05). There were no differences in ET [116.0 ± 11.2 (Sol), 119.1 ± 18.5 (Gast), and 91.4 ± 19.2 mmol/kg dry wt (TA)]. It is proposed that the differences in metabolite levels may be due to the differences in fiber-type composition and deposition of metabolites due to the adaptation of different muscles during locomotion.

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In low-cycling countries, cycling is not evenly distributed across genders and age groups. In the UK, men are twice as likely as women to cycle to work and cycling tends to be dominated by younger adults. By contrast, in higher cycling countries and cities, gender differences are low, absent, or in the opposite direction. Such places also lack the UK's steady decline in cycling among those aged over 35 years. Over the past fifteen years some UK local areas have seen increases in cycling. This paper analyses data from the English and Welsh Census 2001 and 2011 to examine whether such increases are associated with greater diversity among cyclists. We find that in areas where cycling has increased, there has been no increase in the representation of females, and a decrease in the representation of older adults. We discuss potential causes and policy implications. Importantly, simply increasing cycling modal share has not proved sufficient to create an inclusive cycling culture. The UK's culturally specific factors limiting female take-up of cycling seem to remain in place, even where cycling has gone up. Creating a mass cycling culture may require deliberately targeting infrastructure and policies towards currently under-represented groups.

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OBJECTIVE: To provide a detailed phenotype/genotype characterization of Bietti crystalline dystrophy (BCD). DESIGN: Observational case series. PARTICIPANTS: Twenty patients from 17 families recruited from a multiethnic British population. METHODS: Patients underwent color fundus photography, near-infrared (NIR) imaging, fundus autofluorescence (FAF) imaging, spectral domain optical coherence tomography (SD-OCT), and electroretinogram (ERG) assessment. The gene CYP4V2 was sequenced. MAIN OUTCOME MEASURES: Clinical, imaging, electrophysiologic, and molecular genetics findings. RESULTS: Patients ranged in age from 19 to 72 years (median, 40 years), with a visual acuity of 6/5 to perception of light (median, 6/12). There was wide intrafamilial and interfamilial variability in clinical severity. The FAF imaging showed well-defined areas of retinal pigment epithelium (RPE) loss that corresponded on SD-OCT to well-demarcated areas of outer retinal atrophy. Retinal crystals were not evident on FAF imaging and were best visualized with NIR imaging. Spectral domain OCT showed them to be principally located on or in the RPE/Bruch's membrane complex. Disappearance of the crystals, revealed by serial recording, was associated with severe disruption and thinning of the RPE/Bruch's membrane complex. Cases with extensive RPE degeneration (N = 5) had ERGs consistent with generalized rod and cone dysfunction, but those with more focal RPE atrophy showed amplitude reduction without delay (N = 3), consistent with restricted loss of function, or that was normal (N = 2). Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent. This mutation appears to be associated with earlier onset (median age, 30 years) compared with other substitutions (median age, 41 years). Deletions of exon 7 were associated with more severe disease. CONCLUSIONS: The phenotype is highly variable. Several novel variants are reported, including a highly prevalent substitution in patients of South Asian descent that is associated with earlier-onset disease. Autofluorescence showed sharply demarcated areas of RPE loss that coincided with abrupt edges of outer retinal atrophy on SD-OCT; crystals were generally situated on or in the RPE/Bruch's complex but could disappear over time with associated RPE disruption. These results support a role for the RPE in disease pathogenesis.

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This chapter is based on a case study of one UK university sociology department and shows how sociology knowledge can transform the lives of ‘non-traditional’ students. The research from which the case is drawn focused on four departments teaching sociology-related subjects in universities positioned differently in UK league tables. It explored the question of the relationship between university reputation, pedagogic quality and curriculum knowledge, challenging taken-for-granted judgements about ‘quality’ and in conceptualising ‘just’ university pedagogy by taking Basil Bernstein’s ideas about how ‘powerful’ knowledge is distributed in society to illuminate pedagogy and curriculum. The project took the view that ‘power’ lies in the acquisition of specific (inter)disciplinary knowledges which allows the formation of disciplinary identities by way of developing the means to think about and act in the world in specific ways. We chose to focus on sociology because (1) university sociology is taken up by all socio-economic classes in the UK and is increasingly taught in courses in which the discipline is applied to practice; (2) it is a discipline that historically pursues social and moral ambition which assists exploration of the contribution of pedagogic quality to individuals and society beyond economic goals; (3) the researchers teach and research sociology or sociology of education - an understanding of the subjects under discussion is essential to make judgements about quality. ‘Diversity’ was one of four case study universities. It ranks low in university league tables; is located in a large, multi-cultural English inner city; and, its students are likely to come from lower socio-economic and/or ethnic minority groups, as well as being the first in their families to attend university. To make a case for transformative teaching at Diversity, the chapter draws on longitudinal interviews with students, interviews with tutors, curriculum documents, recordings of teaching, examples of student work, and a survey. It establishes what we can learn from the case of sociology at Diversity, arguing that equality, quality and transformation for individuals and society are served by a university curriculum which is research led and challenging combined with pedagogical practices which give access to difficult-to-acquire and powerful knowledge.