High-resolution genome-wide allelotype analysis identifies loss of chromosome 14q as a recurrent genetic alteration in astrocytic tumours

Diffusely infiltrative astrocytic tumours are the most common neoplasms in the human brain. To localise putative tumour suppressor loci that are involved in low-grade astrocytomas, we performed high-resolution genome-wide allelotype analysis on 17 fibrillary astrocytomas. Non-random allelic losses were identified on chromosomal arms 10p (29%), 10q (29%), 14q (35%), 17p (53%), and 19q (29%), with their respective common regions of deletions delineated at 10p14-15.1, 10q25.1-qter, 14q212.2-qer, 17p11.2-pter and 19q12-13.4. These results suggest that alterations of these chromosomal regions play important roles in the development of astrocytoma. We also allelotyped 21 de novo glioblastoma multiforme with an aim to unveil genetic changes that are common to both types of astrocytic tumours. Non-random allelic losses were identified on 9p (67%), 10p (62%), 10q (76%), 13q (60%), 14q (50%), and 17p (65%). Allelic losses of 10p, 10q, 14q and 17p were common genetic alterations detectable in both fibrillary astrocytomas and glioblastoma multiforme. In addition, two common regions of deletions on chromosome 14 were mapped to 14q22.3-32.1 and 14q32.1-qter, suggesting the presence of two putative tumour suppressor genes. In conclusion, our comprehensive allelotype analysis has unveiled several critical tumour suppressor loci that are involved in the development of fibrillary astrocytomas and glioblastoma multiforme. Although these two types of brain tumours are believed to evolve from different genetic pathways, they do share some common genetic changes. Our results indicate that deletions of chromosome 14q is a recurrent genetic event in the development of astrocytoma and highlight the subchromosomal regions on this chromosome that are likely to contain putative tumour suppressor genes involved in the oncogenesis of astrocytic tumours

Reliability of the clinical outcome variables scale when administered via telephone to assess mobility in people with spinal cord injury

Objective: To examine the equivalence reliability and testretest reliability of the Clinical Outcome Variables Scale (COVS) when administered via telephone (TCOVS) to people with spinal cord injury (SCI). Design: Equivalence (telephone administration vs in-person) and test-retest reliability study. Setting: Assessments conducted in participants' home environment. Participants: Equivalence reliability was examined in a convenience sample of 37 people with a diagnosis of traumatic SCI who had been discharged from the Queensland Spinal Injuries Unit to the community. In a separate group of participants, testretest reliability of COVS when administered via telephone was examined in 43 people with SCI who were randomly selected from the Queensland Spinal Cord Injuries Service records. Interventions: Not applicable. Main Outcome Measures: Reliability was assessed at the subscale and composite score level using intraclass correlation coefficients (ICC2.1) and Bland-Altman limits of agreement. Results: Reliability was good for TCOVS and COVS for the composite score (ICC=.98), mobility subscale (ICC=.97), and ambulation subscale (ICC=.99). Reliability was also good for TCOVS test and retest assessments for the composite score (ICC= 1), mobility subscale (ICC= 1), and ambulation subscale (ICC= 1). For all comparisons, most data points were within the 95% limits of agreement and the width of limits of agreement were considered to be clinically acceptable. Conclusions: The study findings confirm the equivalence and test-retest reliability of the TCOVS in an SCI population when administered by trained raters

The relationship between quality of life and disability across the lifespan for people with spinal cord injury

Study design: Prospective cross-sectional survey. Objectives: To compare quality of life (QOL) for people with spinal cord injury (SCI) and their able-bodied peers and to investigate the relationship between QOL and disability (impairments, activity limitations and participation restrictions) across the lifespan, for people with SCI. Setting: A community outreach service for people with SCI in Queensland, Australia. Methods: A random sample of 270 individuals who sustained SCI during the past 60 years was surveyed using a guided telephone interview format. The sample was drawn from the archival records of a statewide rehabilitation service. QOL was measured using the World Health Organization Quality of Life Assessment Instrument-Bref, impairment was measured according to the American Spinal Injury Association classification and the Secondary Condition Surveillance Instrument, activity limitations using the motor subscale of the Functional Independence Measure and participation restrictions using the Community Integration Measure. Lifespan was considered in terms of age and time since injury. Correlation and regression analyses were employed to determine the relationship between QOL and components of disability across the lifespan. Results: QOL was significantly poorer for people with SCI compared to the Australian norm. It was found to be associated with secondary impairments, activity limitations and participation restrictions but not with neurological level, age or time since injury. The single most important predictor of QOL was secondary impairments whereas the second most important predictor was participation. Conclusion: To optimize QOL across the lifespan, rehabilitation services must maintain their focus on functional attainment and minimizing secondary conditions, although at the same time enabling participation

Community participation for individuals with spinal cord injury living in Queensland, Australia

Study design: Sequential mixed method design. Objectives: Determine factors associated with community participation for individuals with spinal cord injury (SCI). Setting: Queensland, Australia. Methods: Phase I consisted of a quantitative telephone survey of 270 people who had sustained a SCI within the past 50 years. To verify and interpret survey findings, Phase II involved a qualitative investigation. One focus group, one dyadic and one in-depth interview were conducted with a separate sample of eight people who had sustained a SCI within the past 50 years. Results: In Phase I, employment, paid or unpaid, was the strongest independent factor associated with community participation, whereas time since injury, completeness of injury, secondary conditions and functional independence were also independently associated. In Phase II, participants expressed that survey findings were consistent with their lived experiences. They explained that overall, they needed a strong reason to participate so that benefits outweigh the effort required to participate. Once out in the community, they recognised that other opportunities for participation arise. Conclusion: Rehabilitation services need to support individuals with SCI to find meaningful employment and to engage in activities that provide them with a strong reason to participate.No Full Tex