Migraine association and linkage studies of an endothelial nitric oxide synthase (NOS3) gene polymorphism

Migraine shows strong familial aggregation. However, the number of genes involved in the disorder is unknown and not identified. Nitric oxide is involved in the central processing of pain stimuli and plays an important role in the regulation of basal or stimulated vasodilation. Nitric oxide synthase, which controls the synthesis of nitric oxide, could possibly be a cause, or candidate gene, in migraine etiology. In this study, we detected a polymorphism for endothelial nitric oxide synthase by polymerase chain reaction and tested this for association and linkage to migraine. Results from the study did not show an association of the nitric oxide synthase microsatellite when tested in 91 affected and 85 unaffected individuals. Using the FASTLINK program for parametric linkage analysis, the polymorphism did not show significant linkage to migraine when tested in four migraine pedigrees composed of 116 individuals, 52 affected. Total LOD scores excluded linkage up to 8.5 cM between the nitric oxide synthase polymorphism and migraine. Results using the nonparametric affected pedigree member form of analysis also did not support a role for this gene in migraine etiology.

Regional chromosomal assignment of human renin gene to 1q12→qter and use in linkage studies in Charcot-Marie-Tooth disease

The gene for renin, previously mapped to human chromosome 1, was further localized to 1q12 → qter using human-mouse somatic cell hybrid DNAs. The renin DNA probe used (λ HR5) could detect a HindIII restriction fragment length polymorphism. When used in studies of 12 informative families, no linkage could be found between the renin and Charcot-Marie-Tooth disease. Furthermore, an association of any renin allele with hypertension was not apparent.

Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder of peripheral nerve. The gene for CMT1 was originally localized to chromosome 1 by linkage to the Duffy blood group, but it has since been shown that not all CMT1 pedigrees show this linkage. We report here the results of linkage studies using five chromosome 1 markers - Duffy (Fy), antithrombin III (AT3), renin (REN), β-nerve growth factor (NGFB), and salivary amylase (AMY1) - in 16 CMT1 pedigrees. The total lod scores exclude close linkage of CMT1 to any of these markers. However, individual families show probable linkage of CMT1 to Duffy, AT3, and/or AMY1. No linkage was indicated with REN or NGFB. These results indicate that possible location of a CMT1 gene between the AMY1 and AT3 loci at p21 and q23, respectively, on chromosome 1 and support the theory that there is at least one other CMT1 gene.

Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII(ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease

Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped 1q12→q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linking of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 and 10 cM or less, α-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and α-spectrin.

Sibpair studies implicate chromosome 18 in essential hypertension

Interest in chromosome 18 in essential hypertension comes from comparative mapping of rat blood pressure quantitative trait loci (QTL), familial orthostatic hypotensive syndrome studies, and essential hypertension pedigree linkage analyses indicating that a locus or loci on human chromosome 18 may play a role in hypertension development. To further investigate involvement of chromosome 18 in human essential hypertension, the present study utilized a linkage scan approach to genotype twelve microsatellite markers spanning human chromosome 18 in 177 Australian Caucasian hypertensive (HT) sibling pairs. Linkage analysis showed significant excess allele sharing of the D18S61 marker when analyzed with SPLINK (P=0.00012), ANALYZE (Sibpair) (P=0.0081), and also with MAPMAKER SIBS (P=0.0001). Similarly, the D18S59 marker also showed evidence for excess allele sharing when analyzed with SPLINK (P=0.016), ANALYZE (Sibpair) (P=0.0095), and with MAPMAKER SIBS (P = 0.014). The adenylate cyclase activating polypeptide 1 gene (ADCYAP1) is involved in vasodilation and has been co-localized to the D18S59 marker. Results testing a microsatellite marker in the 3′ untranslated region of ADCYAP1 in age and gender matched HT and normotensive (NT) individuals showed possible association with hypertension (P = 0.038; Monte Carlo P = 0.02), but not with obesity. The present study shows a chromosome 18 role in essential hypertension and indicates that the genomic region near the ADCYAP1 gene or perhaps the gene itself may be implicated. Further investigation is required to conclusively determine the extent to which ADCYAP1 polymorphisms are involved in essential hypertension. © 2003 Wiley-Liss, Inc.

Lateral impact response and parametric studies of axially loaded square concrete filled steel tube columns

This paper presents a numerical study on the response of axially loaded slender square concrete filled steel tube (CFST) columns under low velocity lateral impact loading. A finite element analysis (FEA) model was developed using the explicit dynamic nonlinear finite element code LS -DYNA in which the strain rate effects of both steel and concrete, contact between steel tube and concrete and confinement effect provided by the steel tube for the concrete were considered. The model also benefited from a relatively recent feature of LS-DYNA for applying a pre-loading in the explicit solver. The developed numerical model was verified for its accuracy and adequacy by comparing the results with experimental results available in the literature. The verified model was then employed to conduct a parametric study to investigate the influence of axial load level, impact location, support conditions, and slenderness ratio on the response of the CFST columns. A good agreement between the numerical and experimental results was achieved. The model could reasonably predict the impact load-deflection history and deformed shape of the column at the end of the impact event. The results of the parametric study showed that whilst impact location, axial load level and slenderness ratio can have a significant effect on the peak impact force, residual lateral deflection and maximum lateral deflection, the influence of support fixity is minimal. With an increase of axial load to up to a certain level, the peak force increases; however, a further increase in the axial load causes a decrease in the peak force. Both residual lateral deflection and maximum lateral deflection increase as axial load level increases. Shifting the impact location towards the supports increases the peak force and reduces both residual and maximum lateral deflections. A rise in slenderness ratio decreases the peak force and increases the residual and maximum lateral deflections.

Testing the psychometric properties of the Brisbane Practice Environment Measure using Exploratory Factor Analysis and Confirmatory Factor Analysis in an Australian registered nurse population

A cross-sectional survey was conducted, and the construct validity and reliability of the Brisbane Practice Environment Measure in an Australian sample of registered nurses were examined. Nurses were randomly selected from the database of an Australian nursing organization. The original 33 items of the Brisbane Practice Environment Measure were utilized to inform the psychometric properties using confirmatory factor analysis. The Cronbach's alpha was 0.938 for the total scale and ranged 0.657–0.887 for the subscales. A five-factor structure of the measure was confirmed, χ2 = 944.622, (P < 0.01), χ2/d.f. ratio = 2.845, Tucker Lewis Index 0.929, Root Mean Square Error = 0.061 and Comparative Fit Index = 0.906. The selected 28 items of the measure proved reliable and valid in measuring effects of the practice environment upon Australian nurses. The implications are that regular measurement of the practice environment using these 28 items might assist in the development of strategies which might improve job satisfaction and retention of registered nurses in Australia.

The "caring experience": testing the psychometric properties of the Caring Efficacy Scale

The purpose of the study was to undertake rigorous psychometric testing of the Caring Efficacy Scale in a sample of Registered Nurses. A cross-sectional survey of 2000 registered nurses was undertaken. The Caring Efficacy Scale was utilised to inform the psychometric properties of the selected items of the Caring Efficacy Scale. Cronbach’s Alpha identified reliability of the data. Exploratory Factor Analysis and Confirmatory Factor Analysis were undertaken to validate the factors. Confirmatory factor analysis confirmed the development of two factors; Confidence to Care and Doubts and Concerns. The Caring Efficacy Scale has undergone rigorous psychometric testing, affording evidence of internal consistency and goodness-of-fit indices within satisfactory ranges. The Caring Efficacy Scale is valid for use in an Australian population of registered nurses. The scale can be used as a subscale or total score reflective of self-efficacy in nursing. This scale may assist nursing educators to predict levels of caring efficacy.

On-road driving studies to understand why drivers behave as they do at regional rail level crossings

Improving safety at rail level crossings is an important part of both road and rail safety strategies. While low in number, crashes between vehicles and trains at level crossings are catastrophic events typically involving multiple fatalities and serious injuries. Advances in driving assessment methods, such as the provision of on-road instrumented test vehicles with eye and head tracking, provide researchers with the opportunity to further understand driver behaviour at such crossings in ways not previously possible. This paper describes a study conducted to further understand the factors that shape driver behaviour at rail level crossings using instrumented vehicles. Twenty-two participants drove an On-Road Test Vehicle (ORTeV) on a predefined route in regional Victoria with a mix of both active (flashing lights with/without boom barriers) and passively controlled (stop, give way) crossings. Data collected included driving performance data, head checks, and interview data to capture driver strategies. The data from an integrated suite of methods demonstrated clearly how behaviour differs at active and passive level crossings, particularly for inexperienced drivers. For example, the head check data clearly show the reliance and expectancies of inexperienced drivers for active warnings even when approaching passively controlled crossings. These studies provide very novel and unique insights into how level crossing design and warnings shape driver behaviour.

Social capital and neighbourhood centres in Queensland : qualitative case studies of three neighbourhood centres

This research paper examines the potential of neighbourhood centres to generate and enhance social capital through their programs, activities, membership associations and community engagement. Social capital is a complex concept involving elements of norms, networks, and trust and is generally seen as enhancing community cohesion and the ability to attain common goals (outlined in more detail in Section 3). The aim of this research project is to describe the nature of social capital formation in terms of development and change in norms, networks and trust within the context of the operations of neighbourhood centres in three Queensland locations (i.e., Sherwood, Kingston/Slacks Creek, and Maleny). The study was prompted by surprisingly little research into how neighbourhood centres and their clients contribute to the development of social capital. Considering the large volume of research on the role of community organisations in building social capital, it is remarkable that perhaps the most obvious organisation with 'social capitalist' intentions has received so little attention (apart from Bullen and Onyx, 2005). Indeed, ostensibly, neighbourhood centres are all about social capital.

Social media and its impact on crisis communication: Case studies of Twitter use in emergency management in Australia and New Zealand

There is a growing awareness worldwide of the significance of social media to communication in times of both natural and human-created disasters and crises. While the media have long been used as a means of broadcasting messages to communities in times of crisis – bushfires, floods, earthquakes etc. – the significance of social media in enabling many-to-many communication through ubiquitous networked computing and mobile media devices is becoming increasingly important in the fields of disaster and emergency management. This paper undertakes an analysis of the uses made of social media during two recent natural disasters: the January 2011 floods in Brisbane and South-East Queensland in Australia, and the February 2011 earthquake in Christchurch, New Zealand. It is part of a wider project being undertaken by a research team based at the Queensland University of Technology in Brisbane, Australia, that is working with the Queensland Department of Community Safety (DCS) and the EIDOS Institute, and funded by the Australian Research Council (ARC) through its Linkages program. The project combines large-scale, quantitative social media tracking and analysis techniques with qualitative cultural analysis of communication efforts by citizens and officials, to enable both emergency management authorities and news media organisations to develop, implement, and evaluate new social media strategies for emergency communication.