Selectivity of human retinotopic visual cortex to S-cone-opponent, L/M-cone-opponent and achromatic stimulation

Our aim was to make a quantitative comparison of the response of the different visual cortical areas to selective stimulation of the two different cone-opponent pathways [long- and medium-wavelength (L/M)- and short-wavelength (S)-cone-opponent] and the achromatic pathway under equivalent conditions. The appropriate stimulus-contrast metric for the comparison of colour and achromatic sensitivity is unknown, however, and so a secondary aim was to investigate whether equivalent fMRI responses of each cortical area are predicted by stimulus contrast matched in multiples of detection threshold that approximately equates for visibility, or direct (cone) contrast matches in which psychophysical sensitivity is uncorrected. We found that the fMRI response across the two colour and achromatic pathways is not well predicted by threshold-scaled stimuli (perceptual visibility) but is better predicted by cone contrast, particularly for area V1. Our results show that the early visual areas (V1, V2, V3, VP and hV4) all have robust responses to colour. No area showed an overall colour preference, however, until anterior to V4 where we found a ventral occipital region that has a significant preference for chromatic stimuli, indicating a functional distinction from earlier areas. We found that all of these areas have a surprisingly strong response to S-cone stimuli, at least as great as the L/M response, suggesting a relative enhancement of the S-cone cortical signal. We also identified two areas (V3A and hMT+) with a significant preference for achromatic over chromatic stimuli, indicating a functional grouping into a dorsal pathway with a strong magnocellular input.

Mothers' perception of the quality of childhood sibling relationships affected by disability

The quality of the sibling relationship has an important role in the development of psychosocial skills throughout childhood. While the literature suggests that the significance of sibling relationships is heightened when one sibling has a disability, empirical findings about the quality of these relationships are few and inconsistent. The present study aimed to address this gap, by investigating mothers’ perspectives about the impact of disability on the quality of the childhood sibling relationship. Forty-one mothers with a child with disability, and 48 with no children with disability completed an online questionnaire that assessed the amount of perceived warmth/closeness and conflict in their children’s sibling relationship. It was found that while there were no differences in reported conflict between the two groups, mothers with a child with disability reported significantly lower warmth/closeness in their children’s sibling relationship than mothers without a child with disability. Demographic variables such as number of children, gender grouping, target gender, target age and age order did not moderate this result. Mothers overall reported significantly more warmth/closeness for younger rather than older children, and more conflict when the sibling was younger than the target child as opposed to older than them. Clinical implications for intervention are discussed.

Short-rib polydactyly and jeune syndromes are caused by mutations in WDR60

Short-rib polydactyly syndromes (SRPS I-V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis.

Evaluation of a skin self examination attitude scale using an item response theory model approach

Introduction The Skin Self-Examination Attitude Scale (SSEAS) is a brief measure that allows for the assessment of attitudes in relation to skin self-examination. This study evaluated the psychometric properties of the SSEAS using Item Response Theory (IRT) methods in a large sample of men ≥ 50 years in Queensland, Australia. Methods A sample of 831 men (420 intervention and 411 control) completed a telephone assessment at the 13-month follow-up of a randomized-controlled trial of a video-based intervention to improve skin self-examination (SSE) behaviour. Descriptive statistics (mean, standard deviation, item–total correlations, and Cronbach’s alpha) were compiled and difficulty parameters were computed with Winsteps using the polytomous Rasch Rating Scale Model (RRSM). An item person (Wright) map of the SSEAS was examined for content coverage and item targeting. Results The SSEAS have good psychometric properties including good internal consistency (Cronbach’s alpha = 0.80), fit with the model and no evidence for differential item functioning (DIF) due to experimental trial grouping was detected. Conclusions The present study confirms the SSEA scale as a brief, useful and reliable tool for assessing attitudes towards skin self-examination in a population of men 50 years or older in Queensland, Australia. The 8-item scale shows unidimensionality, allowing levels of SSE attitude, and the item difficulties, to be ranked on a single continuous scale. In terms of clinical practice, it is very important to assess skin cancer self-examination attitude to identify people who may need a more extensive intervention to allow early detection of skin cancer.

Bone health in children with inflammatory bowel disease : adjusting for bone age

OBJECTIVES: Clinical results of bone mineral density for children with inflammatory bowel disease are commonly reported using reference data for chronological age. It is known that these children, particularly those with Crohn disease, experience delayed growth and maturation. Therefore, it is more appropriate to compare clinical results with bone age rather than chronological age. MATERIALS AND METHODS: Areal bone mineral density (aBMD) was measured using dual energy x-ray absorptiometry, and bone age was assessed using the Tanner-Whitehouse 3 method from a standard hand/wrist radiograph. Results were available for 44 children ages 7.99 to 16.89 years. Areal bone mineral density measurements were converted to z scores using both chronological and bone ages for each subject. RESULTS: Areal bone mineral density z scores calculated using bone age, as opposed to chronological age, were significantly improved for both the total body and lumbar spine regions of interest. When subjects were grouped according to diagnosis, bone age generated z scores remained significantly improved for those with Crohn disease but not for those diagnosed with ulcerative colitis. Grouping of children with Crohn disease into younger and older ages produced significantly higher z scores using bone age compared with chronological for the older age group, but not the younger age group. CONCLUSIONS: Our findings, in accordance with those presented in the literature, suggest that aBMD results in children with Crohn disease should include the consideration of bone age, rather than merely chronological age. Bone size, although not as easily available, would also be an important consideration for interpreting results in paediatric populations. © 2009 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

The bias and assumptions in the Aboriginal and Torres Strait Islander Education Action Plan

This presentation argues that “genuine” engagement and consultation is required where Indigenous voice is included within the policy development process for “true” progress to be achieved. With the ever increasing engagement of Aboriginal and Torres Strait Islander people in the decision making processes of Indigenous education, it is anticipated that there will be provision of opportunities for better outcomes and a greater acceptance of the policy within community (Department of Prime Minister and Cabinet, 2014). This presentation is derived from a larger project where the Aboriginal and Torres Strait Islander Education Action Plan (MCEECDYA, 2011) was critically analysed using Fairclough’s (2001) Critical Discourse Analysis framework and Rigney’s (1999) Indigenist Research Principles. Within this study, the underlying assumptions and bias identified within the policy and how it positions Aboriginal and Torres Strait Islander people were articulated. The major findings that emerged from the data included: - a) the homogenous grouping of Aboriginal and Torres Strait Islander people; - b) the maintenance of the prevalent dominant ideology within policy, and finally; - c) the expectation by the power elite of increased engagement and connections by Aboriginal and Torres Strait Islander peoples without consideration of the detrimental effects of past policies and reforms.

Recapitulation in generating spatial layouts: Representations of embryogenesis in evolutionary design modelling

The noted 19th century biologist, Ernst Haeckel, put forward the idea that the growth (ontogenesis) of an organism recapitulated the history of its evolutionary development. While this idea is defunct within biology, the idea has been promoted in areas such as education (the idea of an education being the repetition of the civilizations before). In the research presented in this paper, recapitulation is used as a metaphor within computer-aided design as a way of grouping together different generations of spatial layouts. In most CAD programs, a spatial layout is represented as a series of objects (lines, or boundary representations) that stand in as walls. The relationships between spaces are not usually explicitly stated. A representation using Lindenmayer Systems (originally designed for the purpose of modelling plant morphology) is put forward as a way of representing the morphology of a spatial layout. The aim of this research is not just to describe an individual layout, but to find representations that link together lineages of development. This representation can be used in generative design as a way of creating more meaningful layouts which have particular characteristics. The use of genetic operators (mutation and crossover) is also considered, making this representation suitable for use with genetic algorithms.