Sample records for large australian pedigrees

  1. Variable phenotype of Marfan syndrome in two large Australian pedigrees, one of Australian aboriginal origin

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    Wong, K.K.; Summers, K.M.; West, M.J. [Univ. of Queensland (Australia)] [and others


    Marfan syndrome may affect the cardiovascular, ocular and skeletal systems. The gene for this autosomal dominant disease maps to chromosome 15 and codes for the extracellular matrix protein fibrillin. Phenotypic expression is very variable both within and between families, possibly due to the influence of other, unlinked, genetic factors interacting with the fibrillin gene. We report two Australian families which demonstrate the extent of inter- and intra-family phenotypic variability. Eye, cardiac and skeletal assessments were made independently. In the first family, 8 of 12 siblings and 11 of 19 of their children had ectopia lentis with or without other ocular findings. There were few cardiac signs. One child had mitral valve prolapse. He and three other children had mild dilatation of the aorta. Skeletal abnormalities were also found (3 adults and 7 children). Chest wall asymmetry was the most common skeletal finding. This family has less cardiac and skeletal involvement than is usual in Marfan syndrome, although the disease maps to chromosome 15 in the region of the fibrillin gene (LOD=4.8 at {theta}=0 with respect to CYP19). The second family is partly of Australian aboriginal origin. The disease has been traced through 5 generations. To date we have examined 37 of 84 living members. Twenty-three in 3 generations are affected. Five adults and 4 children have moderate to severe aortic dilatation and there has been at least one death due to aortic dissection. However, two adolescents with subluxed lenses and marked skeletal abnormalities have normal aortic diameters, two children have aortic dilatation without other signs and two children have only subluxed lenses. This family shows the range of phenotypic variation which can arise from mutation in the fibrillin gene, which may be influenced by the admixture of Australian aboriginal genes. These two families provide an invaluable resource for studying genetic interactions in this disease.

  2. Broad scan linkage analysis in a large Tourette family pedigree

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    Peiffer, A.; Leppert, M. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States); Wetering, B.J.M. van der [Univ. Hospital Rotterdam (Netherlands)


    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  3. A Large PROP1 Gene Deletion in a Turkish Pedigree

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    Suheyla Gorar


    Full Text Available Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.

  4. Multilocus lod scores in large pedigrees: combination of exact and approximate calculations. (United States)

    Tong, Liping; Thompson, Elizabeth


    To detect the positions of disease loci, lod scores are calculated at multiple chromosomal positions given trait and marker data on members of pedigrees. Exact lod score calculations are often impossible when the size of the pedigree and the number of markers are both large. In this case, a Markov Chain Monte Carlo (MCMC) approach provides an approximation. However, to provide accurate results, mixing performance is always a key issue in these MCMC methods. In this paper, we propose two methods to improve MCMC sampling and hence obtain more accurate lod score estimates in shorter computation time. The first improvement generalizes the block-Gibbs meiosis (M) sampler to multiple meiosis (MM) sampler in which multiple meioses are updated jointly, across all loci. The second one divides the computations on a large pedigree into several parts by conditioning on the haplotypes of some 'key' individuals. We perform exact calculations for the descendant parts where more data are often available, and combine this information with sampling of the hidden variables in the ancestral parts. Our approaches are expected to be most useful for data on a large pedigree with a lot of missing data. (c) 2007 S. Karger AG, Basel

  5. Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores. (United States)

    Nechiporuk, A; Fain, P; Kort, E; Nee, L E; Frommelt, E; Polinsky, R J; Korenberg, J R; Pulst, S M


    Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. In addition to sporadic forms of AD, familial forms (FAD) have been recognized. Mutations in the amyloid precursor protein (APP) gene on chromosome (CHR) 21 have been shown to cause early-onset AD in a small number of pedigrees. Recently, linkage to markers on CHR 14 has been established in several early-onset FAD pedigrees. We now report lod scores for CHR 14 markers in two large early-onset FAD pedigrees. Pairwise linkage analysis suggested that in these pedigrees the mutation is tightly linked to the loci D14S43 and D14S53. However, assumptions regarding marker allele frequencies had a major and often unpredictable effect on calculated lod scores. Therefore, caution needs to be exercised when single pedigrees are analyzed with marker allele frequencies determined from the literature or from a pool of spouses.

  6. Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis. (United States)

    Ma, Li; O'Connell, Jeffrey R; VanRaden, Paul M; Shen, Botong; Padhi, Abinash; Sun, Chuanyu; Bickhart, Derek M; Cole, John B; Null, Daniel J; Liu, George E; Da, Yang; Wiggans, George R


    Meiotic recombination is an essential biological process that generates genetic diversity and ensures proper segregation of chromosomes during meiosis. From a large USDA dairy cattle pedigree with over half a million genotyped animals, we extracted 186,927 three-generation families, identified over 8.5 million maternal and paternal recombination events, and constructed sex-specific recombination maps for 59,309 autosomal SNPs. The recombination map spans for 25.5 Morgans in males and 23.2 Morgans in females, for a total studied region of 2,516 Mb (986 kb/cM in males and 1,085 kb/cM in females). The male map is 10% longer than the female map and the sex difference is most pronounced in the subtelomeric regions. We identified 1,792 male and 1,885 female putative recombination hotspots, with 720 hotspots shared between sexes. These hotspots encompass 3% of the genome but account for 25% of the genome-wide recombination events in both sexes. During the past forty years, males showed a decreasing trend in recombination rate that coincided with the artificial selection for milk production. Sex-specific GWAS analyses identified PRDM9 and CPLX1 to have significant effects on genome-wide recombination rate in both sexes. Two novel loci, NEK9 and REC114, were associated with recombination rate in both sexes, whereas three loci, MSH4, SMC3 and CEP55, affected recombination rate in females only. Among the multiple PRDM9 paralogues on the bovine genome, our GWAS of recombination hotspot usage together with linkage analysis identified the PRDM9 paralogue on chromosome 1 to be associated in the U.S. Holstein data. Given the largest sample size ever reported for such studies, our results reveal new insights into the understanding of cattle and mammalian recombination.

  7. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication

    DEFF Research Database (Denmark)

    Fuchs, J; Nilsson, C; Kachergus, J


    complex. The genetic basis for familial parkinsonism is an SNCA-MMRN11 multiplication, but whereas SNCA-MMRN1 duplication in the Swedish proband (Branch J) leads to late-onset autonomic dysfunction and parkinsonism, SNCA-MMRN1 triplication in the Swedish American family (Branch I) leads to early......BACKGROUND: The "Lister family complex," an extensive Swedish family with autosomal dominant Parkinson disease, was first described by Henry Mjönes in 1949. On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence...... that explains the parkinsonism in this extended pedigree. METHODS: Clinical methods included a detailed neurologic exam of the proband of the Swedish family branch, MRI, and ([123]I)-beta-CIT SPECT imaging. Genomic analysis included alpha-synuclein sequencing, SNCA real-time PCR dosage, chromosome 4q21...

  8. A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer

    International Nuclear Information System (INIS)

    Middeldorp, Anneke; Wijnen, Juul T; Wezel, Tom van; Jagmohan-Changur, Shantie; Helmer, Quinta; Klift, Heleen M van der; Tops, Carli MJ; Vasen, Hans FA; Devilee, Peter; Morreau, Hans; Houwing-Duistermaat, Jeanine J


    The apparent dominant model of colorectal cancer (CRC) inheritance in several large families, without mutations in known CRC susceptibility genes, suggests the presence of so far unidentified genes with strong or moderate effect on the development of CRC. Linkage analysis could lead to identification of susceptibility genes in such families. In comparison to classical linkage analysis with multi-allelic markers, single nucleotide polymorphism (SNP) arrays have increased information content and can be processed with higher throughput. Therefore, SNP arrays can be excellent tools for linkage analysis. However, the vast number of SNPs on the SNP arrays, combined with large informative pedigrees (e.g. >35–40 bits), presents us with a computational complexity that is challenging for existing statistical packages or even exceeds their capacity. We therefore setup a procedure for linkage analysis in large pedigrees and validated the method by genotyping using SNP arrays of a colorectal cancer family with a known MLH1 germ line mutation. Quality control of the genotype data was performed in Alohomora, Mega2 and SimWalk2, with removal of uninformative SNPs, Mendelian inconsistencies and Mendelian consistent errors, respectively. Linkage disequilibrium was measured by SNPLINK and Merlin. Parametric linkage analysis using two flanking markers was performed using MENDEL. For multipoint parametric linkage analysis and haplotype analysis, SimWalk2 was used. On chromosome 3, in the MLH1-region, a LOD score of 1.9 was found by parametric linkage analysis using two flanking markers. On chromosome 11 a small region with LOD 1.1 was also detected. Upon linkage disequilibrium removal, multipoint linkage analysis yielded a LOD score of 2.1 in the MLH1 region, whereas the LOD score dropped to negative values in the region on chromosome 11. Subsequent haplotype analysis in the MLH1 region perfectly matched the mutation status of the family members. We developed a workflow for linkage

  9. Replication and explorations of high-order epistasis using a large advanced intercross line pedigree.

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    Mats Pettersson


    Full Text Available Dissection of the genetic architecture of complex traits persists as a major challenge in biology; despite considerable efforts, much remains unclear including the role and importance of genetic interactions. This study provides empirical evidence for a strong and persistent contribution of both second- and third-order epistatic interactions to long-term selection response for body weight in two divergently selected chicken lines. We earlier reported a network of interacting loci with large effects on body weight in an F(2 intercross between these high- and low-body weight lines. Here, most pair-wise interactions in the network are replicated in an independent eight-generation advanced intercross line (AIL. The original report showed an important contribution of capacitating epistasis to growth, meaning that the genotype at a hub in the network releases the effects of one or several peripheral loci. After fine-mapping of the loci in the AIL, we show that these interactions were persistent over time. The replication of five of six originally reported epistatic loci, as well as the capacitating epistasis, provides strong empirical evidence that the originally observed epistasis is of biological importance and is a contributor in the genetic architecture of this population. The stability of genetic interaction mechanisms over time indicates a non-transient role of epistasis on phenotypic change. Third-order epistasis was for the first time examined in this study and was shown to make an important contribution to growth, which suggests that the genetic architecture of growth is more complex than can be explained by two-locus interactions only. Our results illustrate the importance of designing studies that facilitate exploration of epistasis in populations for obtaining a comprehensive understanding of the genetics underlying a complex trait.

  10. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree


    Bamashmus, M; Downey, L; Inglehearn, C; Gupta, S; Mansfield, D


    BACKGROUND/AIMS—Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR.
METHODS—Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmos...

  11. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. (United States)

    Bamashmus, M A; Downey, L M; Inglehearn, C F; Gupta, S R; Mansfield, D C


    Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR. Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmoscopy, and in some cases fluorescein angiography. Patient DNAs were genotyped for markers at the EVR1 locus on chromosome 11q13. The clinical evaluation in this family is consistent with previous descriptions of FEVR pedigrees, but linkage analysis proves that it has a form of FEVR genetically distinct from the EVR1 locus on 11q. This proves that there are at least three different loci associated with comparable FEVR phenotypes, a situation similar to that existing for many forms of retinal degeneration.


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    Tiru S. Arthanari


    Full Text Available The fact that linear optimization over a polytope can be done in polynomial time in the input size of the instance, has created renewed interest in studying 0-1 polytopes corresponding to combinatorial optimization problems. Studying their polyhedral structure has resulted in new algorithms to solve very large instances of some difficult problems like the symmetric traveling salesman problem. The multistage insertion formulation (MI given by the author, in 1982, for the symmetric traveling salesman problem (STSP, gives rise to a combinatorial object called the pedigree. The pedigrees are in one-to-one correspondence with Hamiltonian cycles. Given n, the convex hull of all the pedigrees is called the corresponding pedigree polytope. In this article we bring together the research done a little over a decade by the author and his doctoral students, on the pedigree polytope, its structure, membership problem and properties of the MI formulation for the STSP. In addition we summarise some of the computational and other peripheral results relating to pedigree approach to solve the STSP. The pedigree polytope possesses properties not shared by the STSP (tour polytope, which makes it interesting to study the pedigrees, both from theoretical and algorithmic perspectives.

  13. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. (United States)

    Kamada, Fumiaki; Kure, Shigeo; Kudo, Takayuki; Suzuki, Yoichi; Oshima, Takeshi; Ichinohe, Akiko; Kojima, Kanako; Niihori, Tetsuya; Kanno, Junko; Narumi, Yoko; Narisawa, Ayumi; Kato, Kumi; Aoki, Yoko; Ikeda, Katsuhisa; Kobayashi, Toshimitsu; Matsubara, Yoichi


    Autosomal-dominant, nonsyndromic hearing impairment is clinically and genetically heterogeneous. We encountered a large Japanese pedigree in which nonsyndromic hearing loss was inherited in an autosomal-dominant fashion. A genome-wide linkage study indicated linkage to the DFNA2 locus on chromosome 1p34. Mutational analysis of KCNQ4 encoding a potassium channel revealed a novel one-base deletion in exon 1, c.211delC, which generated a profoundly truncated protein without transmembrane domains (p.Q71fsX138). Previously, six missense mutations and one 13-base deletion, c.211_223del, had been reported in KCNQ4. Patients with the KCNQ4 missense mutations had younger-onset and more profound hearing loss than patients with the 211_223del mutation. In our current study, 12 individuals with the c.211delC mutation manifested late-onset and pure high-frequency hearing loss. Our results support the genotype-phenotype correlation that the KCNQ4 deletions are associated with later-onset and milder hearing impairment than the missense mutations. The phenotypic difference may be caused by the difference in pathogenic mechanisms: haploinsufficiency in deletions and dominant-negative effect in missense mutations.

  14. Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. (United States)

    Paterson, Rachel L; De Roach, John N; McLaren, Terri L; Hewitt, Alex W; Hoffmann, Ling; Lamey, Tina M


    Retinitis pigmentosa (RP) is the most common form of inherited blindness, caused by progressive degeneration of photoreceptor cells in the retina, and affects approximately 1 in 3,000 people. Over the past decade, significant progress has been made in gene therapy for RP and related diseases, making genetic characterization increasingly important. Recently, high-throughput technologies have provided an option for reasonably fast, cost-effective genetic characterization of autosomal recessive RP (arRP). The current study used a single nucleotide polymorphism (SNP) genotyping method to exclude up to 28 possible disease-causing genes in 31 non-consanguineous Australian families affected by arRP. DNA samples were collected from 59 individuals affected with arRP and 74 unaffected family members from 31 Australian families. Five to six SNPs were genotyped for 28 genes known to cause arRP or the related disease Leber congenital amaurosis (LCA). Cosegregation analyses were used to exclude possible causative genes from each of the 31 families. Bidirectional sequencing was used to identify disease-causing mutations in prioritized genes that were not excluded with cosegregation analyses. Two families were excluded from analysis due to identification of false paternity. An average of 28.9% of genes were excluded per family when only one affected individual was available, in contrast to an average of 71.4% or 89.8% of genes when either two, or three or more affected individuals were analyzed, respectively. A statistically significant relationship between the proportion of genes excluded and the number of affected individuals analyzed was identified using a multivariate regression model (pA) and USH2A in two families (c.2276 G>T). This study has shown that SNP genotyping cosegregation analysis can be successfully used to refine and expedite the genetic characterization of arRP in a non-consanguineous population; however, this method is effective only when DNA samples are

  15. Maximum likelihood pedigree reconstruction using integer linear programming. (United States)

    Cussens, James; Bartlett, Mark; Jones, Elinor M; Sheehan, Nuala A


    Large population biobanks of unrelated individuals have been highly successful in detecting common genetic variants affecting diseases of public health concern. However, they lack the statistical power to detect more modest gene-gene and gene-environment interaction effects or the effects of rare variants for which related individuals are ideally required. In reality, most large population studies will undoubtedly contain sets of undeclared relatives, or pedigrees. Although a crude measure of relatedness might sometimes suffice, having a good estimate of the true pedigree would be much more informative if this could be obtained efficiently. Relatives are more likely to share longer haplotypes around disease susceptibility loci and are hence biologically more informative for rare variants than unrelated cases and controls. Distant relatives are arguably more useful for detecting variants with small effects because they are less likely to share masking environmental effects. Moreover, the identification of relatives enables appropriate adjustments of statistical analyses that typically assume unrelatedness. We propose to exploit an integer linear programming optimisation approach to pedigree learning, which is adapted to find valid pedigrees by imposing appropriate constraints. Our method is not restricted to small pedigrees and is guaranteed to return a maximum likelihood pedigree. With additional constraints, we can also search for multiple high-probability pedigrees and thus account for the inherent uncertainty in any particular pedigree reconstruction. The true pedigree is found very quickly by comparison with other methods when all individuals are observed. Extensions to more complex problems seem feasible. © 2012 Wiley Periodicals, Inc.

  16. A comparison of accuracy validation methods for genomic and pedigree-based predictions of swine litter size traits using Large White and simulated data. (United States)

    Putz, A M; Tiezzi, F; Maltecca, C; Gray, K A; Knauer, M T


    The objective of this study was to compare and determine the optimal validation method when comparing accuracy from single-step GBLUP (ssGBLUP) to traditional pedigree-based BLUP. Field data included six litter size traits. Simulated data included ten replicates designed to mimic the field data in order to determine the method that was closest to the true accuracy. Data were split into training and validation sets. The methods used were as follows: (i) theoretical accuracy derived from the prediction error variance (PEV) of the direct inverse (iLHS), (ii) approximated accuracies from the accf90(GS) program in the BLUPF90 family of programs (Approx), (iii) correlation between predictions and the single-step GEBVs from the full data set (GEBV Full ), (iv) correlation between predictions and the corrected phenotypes of females from the full data set (Y c ), (v) correlation from method iv divided by the square root of the heritability (Y ch ) and (vi) correlation between sire predictions and the average of their daughters' corrected phenotypes (Y cs ). Accuracies from iLHS increased from 0.27 to 0.37 (37%) in the Large White. Approximation accuracies were very consistent and close in absolute value (0.41 to 0.43). Both iLHS and Approx were much less variable than the corrected phenotype methods (ranging from 0.04 to 0.27). On average, simulated data showed an increase in accuracy from 0.34 to 0.44 (29%) using ssGBLUP. Both iLHS and Y ch approximated the increase well, 0.30 to 0.46 and 0.36 to 0.45, respectively. GEBV Full performed poorly in both data sets and is not recommended. Results suggest that for within-breed selection, theoretical accuracy using PEV was consistent and accurate. When direct inversion is infeasible to get the PEV, correlating predictions to the corrected phenotypes divided by the square root of heritability is adequate given a large enough validation data set. © 2017 Blackwell Verlag GmbH.

  17. Using Python for Pedigree Analysis (United States)

    A pedigree is a way of describing a population of people or animals in terms of genetic relationships among individuals. Pedigrees are of interest to many people, including scientists, animal and plant breeders, and genealogists. They are used to assess the diversity of populations, in combination ...

  18. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; van Amstel, Hans Kristian Ploos

    Background We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  19. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C.; Duran, Karen; Renkens, Ivo; Terhal, Paulien A.; de Kovel, Carolien; Nijman, Ies J.; van Haelst, Mieke; Knoers, Nine V. A. M.; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C. M.; Cuppen, Edwin; Ploos van Amstel, Hans Kristian


    Background We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  20. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, M.; van den Boogaard, M.J.; Sinke, R.; van Lieshout, S.; van Tuil, M.C.; Duran, K.; Renkens, I.; Terhal, P.A.; de Kovel, C.; Nijman, I.J.; van Haelst, M.; Knoers, N.V.; van Haaften, G.; Kloosterman, W.; Hennekam, R.C.; Cuppen, E.; Ploos van Amstel, H.K.


    BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  1. Nuclear Pedigree Criteria of Suspected HNPCC

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    Kładny Józef


    Full Text Available Abstract The criteria for the diagnosis of HNPCC established by the ICG-HNPCC are very restrictive as they do not allow for the diagnosis of a large number of "suspected HNPCC" cases - these are families which do no fulfill the strict diagnostic "Amsterdam criteria", but do present with several pedigree and clinical features characteristic for HNPCC. Several series of families suspected of harboring germline mutations in DNA mismatch repair genes have been studied for germline changes in DNA mismatch repair genes and a mutation rate of somewhere between 8-60% was found. Therefore a subgroup of members of the ICG-HNPCC has been working on pedigree/clinical diagnostic criteria for suspected HNPCC. Materials and methods Part I The study was based on two series of colorectal cancer (CRC cases: 1 HNPCC - this group comprised 190 patients affected by CRC from randomly selected families which fulfilled the Amsterdam II criteria registered in Düsseldorf, Germany (102 cases of CRC, Denmark (18 CRCs, Leiden, Holland (23 CRCs and Szczecin, Poland (47 CRCs. 2 Consecutive CRCs - this group comprised 629 (78.0% of 806 individuals with CRC diagnosed in 1991-1997 in the city of Szczecin (ca. 400,000 of inhabitants, Poland. Nuclear pedigrees in both groups were compared for frequency of occurrence of clinical features, that have been shown to be associated with HNPCC. Part II 52 consecutive CRC cases from Szczecin, matching the criteria recognized in part I as appropriate for diagnosis of cases "suspected of HNPCC" were studied for the occurrence of germline hMSH2/hMLH1 constitutional mutations using "exon by exon" sequencing. Results The combination of features - i.e. the occurrence of an HNPCC associated cancer (CRC or cancer of the endometrium, small bowel or urinary tract in a 1st degree relative of a CRC patient; at least one of the patients being diagnosed under age of 50 - appeared to be strongly associated to HNPCC with an OR - 161. Constitutional

  2. Interactions between large-scale modes of climate and their relationship with Australian climate and hydrology (United States)

    Whan, K. R.; Lindesay, J. A.; Timbal, B.; Raupach, M. R.; Williams, E.


    Australia’s natural environment is adapted to low rainfall availability and high variability but human systems are less able to adapt to variability in the hydrological cycle. Understanding the mechanisms underlying drought persistence and severity is vital to contextualising future climate change. Multiple external forcings mean the mechanisms of drought occurrence in south-eastern Australian are complex. The key influences on SEA climate are El Niño-Southern Oscillation (ENSO), the Indian Ocean Dipole (IOD), the Southern Annular Mode (SAM) and the sub-tropical ridge (STR); each of these large-scale climate modes (LSCM) has been studied widely. The need for research into the interactions among the modes has been noted [1], although to date this has received limited attention. Relationships between LSCM and hydrometeorological variability are nonlinear, making linearity assumptions underlying usual statistical techniques (e.g. correlation, principle components analysis) questionable. In the current research a statistical technique that can deal with nonlinear interactions is applied to a new dataset enabling a full examination of the Australian water balance. The Australian Water Availability Project (AWAP) dataset models the Australian water balance on a fine grid [2]. Hydrological parameters (e.g. soil moisture, evaporation, runoff) are modelled from meteorological data, allowing the complete Australian water balance (climate and hydrology) to be examined and the mechanisms of drought to be studied holistically. Classification and regression trees (CART) are a powerful regression-based technique that is capable of accounting for nonlinear effects. Although it has limited previous application in climate research [3] this methodology is particularly informative in cases with multiple predictors and nonlinear relationships such as climate variability. Statistical relationships between variables are the basis for the decision rules in CART that are used to split

  3. Two-level mixed modeling of longitudinal pedigree data for genetic association analysis

    DEFF Research Database (Denmark)

    Tan, Q.


    of follow-up. Approaches have been proposed to integrate kinship correlation into the mixed effect models to explicitly model the genetic relationship which have been proven as an efficient way for dealing with sample clustering in pedigree data. Although useful for adjusting relatedness in the mixed...... assess the genetic associations with the mean level and the rate of change in a phenotype both with kinship correlation integrated in the mixed effect models. We apply our method to longitudinal pedigree data to estimate the genetic effects on systolic blood pressure measured over time in large pedigrees......Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees which could affect statistical assessment of the genetic effects on both the mean level of the phenotype and its rate of change over the time...

  4. A study of diabetes mellitus within a large sample of Australian twins

    DEFF Research Database (Denmark)

    Condon, Julianne; Shaw, Joanne E; Luciano, Michelle


    with type 2 diabetes (T2D), 41 female pairs with gestational diabetes (GD), 5 pairs with impaired glucose tolerance (IGT) and one pair with MODY. Heritabilities of T1D, T2D and GD were all high, but our samples did not have the power to detect effects of shared environment unless they were very large......Twin studies of diabetes mellitus can help elucidate genetic and environmental factors in etiology and can provide valuable biological samples for testing functional hypotheses, for example using expression and methylation studies of discordant pairs. We searched the volunteer Australian Twin...... Registry (19,387 pairs) for twins with diabetes using disease checklists from nine different surveys conducted from 1980-2000. After follow-up questionnaires to the twins and their doctors to confirm diagnoses, we eventually identified 46 pairs where one or both had type 1 diabetes (T1D), 113 pairs...

  5. Bayesian pedigree inference with small numbers of single nucleotide polymorphisms via a factor-graph representation. (United States)

    Anderson, Eric C; Ng, Thomas C


    We develop a computational framework for addressing pedigree inference problems using small numbers (80-400) of single nucleotide polymorphisms (SNPs). Our approach relaxes the assumptions, which are commonly made, that sampling is complete with respect to the pedigree and that there is no genotyping error. It relies on representing the inferred pedigree as a factor graph and invoking the Sum-Product algorithm to compute and store quantities that allow the joint probability of the data to be rapidly computed under a large class of rearrangements of the pedigree structure. This allows efficient MCMC sampling over the space of pedigrees, and, hence, Bayesian inference of pedigree structure. In this paper we restrict ourselves to inference of pedigrees without loops using SNPs assumed to be unlinked. We present the methodology in general for multigenerational inference, and we illustrate the method by applying it to the inference of full sibling groups in a large sample (n=1157) of Chinook salmon typed at 95 SNPs. The results show that our method provides a better point estimate and estimate of uncertainty than the currently best-available maximum-likelihood sibling reconstruction method. Extensions of this work to more complex scenarios are briefly discussed. Published by Elsevier Inc.

  6. Pedigree analysis of the Hungarian Thoroughbred population

    NARCIS (Netherlands)

    Bokor, A.; Jonas, D.; Ducro, B.J.; Nagy, I.; Bokor, J.; Szabari, M.


    The aim of the study was to analyse the pedigree information of Thoroughbred horses which were participating in gallop races between 1998 and 2010 in Hungary. Among the 3043 individuals of the reference population there were imported animals from foreign countries (e.g. Germany, England or Ireland)

  7. Large scale deformation of the oceanic lithosphere: insights from numerical modeling of the Indo-Australian intraplate deformation (United States)

    Royer, J.; Brandon, V.


    The large-scale deformation observed in the Indo-Australian plate seems to challenge tenets of plate tectonics: plate rigidity and narrow oceanic plate boundaries. Its distribution along with kinematic data inversions however suggest that the Indo-Australian plate can be viewed as a composite plate made of three rigid component plates - India, Capricorn, Australia - separated by wide and diffuse boundaries either extensional or compressional. We tested this model using the SHELLS numerical code (Kong & Bird, 1995) where the Indo-Australian plate was meshed into 5281 spherical triangular finite elements. Model boundary conditions are defined only by the plate velocities of the rigid parts of the Indo-Australian plate relative to their neighboring plates. Different plate velocity models were tested. From these boundary conditions, and taking into account the age of the lithosphere, seafloor topography, and assumptions on the rheology of the oceanic lithosphere, SHELLS predicts strain rates within the plate. We also tested the role of fossil fracture zones as potential lithospheric weaknesses. In a first step, we considered different component plate pairs (India/Capricorn, Capricorn/Australia, India/Australia). Since the limits of their respective diffuse boundary (i.e. the limits of the rigid component plates) are not known, we let the corresponding edge free. In a second step, we merged the previous meshes to consider the whole Indo-Australian plate. In this case, the velocities on the model boundaries are all fully defined and were set relative to the Capricorn plate. Our models predict deformation patterns very consistent with that observed. Pre-existing structures of the lithosphere play an important role in the intraplate deformation and its distribution. The Chagos Bank focuses the extensional deformation between the Indian and Capricorn plates. Reactivation of fossil fracture zones may accommodate large part of the deformation both in extensional areas, off

  8. The large-scale solar feed-in tariff reverse auction in the Australian Capital Territory, Australia

    International Nuclear Information System (INIS)

    Buckman, Greg; Sibley, Jon; Bourne, Richard


    Feed-in tariffs (FiTs) offer renewable energy developers significant investor certainty but sometimes at the cost of being misaligned with generation costs. Reverse FiT auctions, where the FiT rights for a predetermined capacity are auctioned, can overcome this problem but can be plagued by non-delivery risks, particularly of competitively priced proposals. In 2012 and 2013 the Australian Capital Territory (ACT) Government in Australia conducted a FiT reverse auction for 40 MW of large-scale solar generating capacity, the first such auction undertaken in the country. The auction was highly competitive in relation to price and demonstrating low delivery risks. Proposal capital costs, particularly engineering, procurement and construction costs, as well as internal rates of return, were lower than expected. The auction process revealed limited land availability for large-scale solar developments in the ACT as well as a significant perceived sovereign risk issue. The auction process was designed to mitigate non-delivery risk by requiring proposals to be pre-qualified on the basis of delivery risk, before considering FiT pricing. The scheme is likely to be used by the ACT Government to support further large-scale renewable energy development as part of its greenhouse gas reduction strategy which is underpinned by a 90-per cent-by-2020 renewable energy target. - Highlights: • Evolution of the reverse auction process in the Australian Capital Territory. • Analysis of the outcomes of the first Australian feed-in tariff reverse auction. • Identification of the major drivers of the low FiT prices achieved in the auction. • Identification of major issues that emerged in the auction

  9. Next Generation Sequencing Plus (NGS+) with Y-chromosomal Markers for Forensic Pedigree Searches. (United States)

    Qian, Xiaoqin; Hou, Jiayi; Wang, Zheng; Ye, Yi; Lang, Min; Gao, Tianzhen; Liu, Jing; Hou, Yiping


    There is high demand for forensic pedigree searches with Y-chromosome short tandem repeat (Y-STR) profiling in large-scale crime investigations. However, when two Y-STR haplotypes have a few mismatched loci, it is difficult to determine if they are from the same male lineage because of the high mutation rate of Y-STRs. Here we design a new strategy to handle cases in which none of pedigree samples shares identical Y-STR haplotype. We combine next generation sequencing (NGS), capillary electrophoresis and pyrosequencing under the term 'NGS+' for typing Y-STRs and Y-chromosomal single nucleotide polymorphisms (Y-SNPs). The high-resolution Y-SNP haplogroup and Y-STR haplotype can be obtained with NGS+. We further developed a new data-driven decision rule, FSindex, for estimating the likelihood for each retrieved pedigree. Our approach enables positive identification of pedigree from mismatched Y-STR haplotypes. It is envisaged that NGS+ will revolutionize forensic pedigree searches, especially when the person of interest was not recorded in forensic DNA database.

  10. Whole-genome characterization in pedigreed non-human primates using Genotyping-By-Sequencing and imputation.


    Cervera-Juanes, Rita; Vinson, Amanda; Ferguson, Betsy; Carbone, Lucia; Spindel, Eliot; Mccouch, Susan; Spindel, Jennifer; Nevonen, Kimberly; Letaw, John; Raboin, Michael; Bimber, Ben


    Background: Rhesus macaques are widely used in biomedical research, but the application of genomic information in this species to better understand human disease is still undeveloped. Whole-genome sequence (WGS) data in pedigreed macaque colonies could provide substantial experimental power, but the collection of WGS data in large cohorts remains a formidable expense. Here, we describe a cost-effective approach that selects the most informative macaques in a pedigree for whole-genome sequenci...

  11. Pedigrees or markers: Which are better in estimating relatedness and inbreeding coefficient? (United States)

    Wang, Jinliang


    Individual inbreeding coefficient (F) and pairwise relatedness (r) are fundamental parameters in population genetics and have important applications in diverse fields such as human medicine, forensics, plant and animal breeding, conservation and evolutionary biology. Traditionally, both parameters are calculated from pedigrees, but are now increasingly estimated from genetic marker data. Conceptually, a pedigree gives the expected F and r values, FP and rP, with the expectations being taken (hypothetically) over an infinite number of individuals with the same pedigree. In contrast, markers give the realised (actual) F and r values at the particular marker loci of the particular individuals, FM and rM. Both pedigree (FP, rP) and marker (FM, rM) estimates can be used as inferences of genomic inbreeding coefficients FG and genomic relatedness rG, which are the underlying quantities relevant to most applications (such as estimating inbreeding depression and heritability) of F and r. In the pre-genomic era, it was widely accepted that pedigrees are much better than markers in delineating FG and rG, and markers should better be used to validate, amend and construct pedigrees rather than to replace them. Is this still true in the genomic era when genome-wide dense SNPs are available? In this simulation study, I showed that genomic markers can yield much better estimates of FG and rG than pedigrees when they are numerous (say, 10(4) SNPs) under realistic situations (e.g. genome and population sizes). Pedigree estimates are especially poor for species with a small genome, where FG and rG are determined to a large extent by Mendelian segregations and may thus deviate substantially from their expectations (FP and rP). Simulations also confirmed that FM, when estimated from many SNPs, can be much more powerful than FP for detecting inbreeding depression in viability. However, I argue that pedigrees cannot be replaced completely by genomic SNPs, because the former allows for

  12. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees

    NARCIS (Netherlands)

    McInnes, LA; Escamilla, MA; Service, SK; Reus, [No Value; Leon, P; Silva, S; Rojas, E; Spesny, M; Baharloo, S; Blankenship, K; Peterson, A; Tyler, D; Shimayoshi, N; Tobey, C; Batki, S; Vinogradov, S; Meza, L; Gallegos, A; Fournier, E; Smith, LB; Barondes, SH; Sandkuijl, LA; Freimer, NB


    Bipolar mood disorder (BP) is a debilitating syndrome characterized by episodes of mania and depression. We designed a multistage study to detect all major loci predisposing to severe BP (termed BP-I) in two pedigrees drawn from the Central Valley of Costa Rica, where the population is largely

  13. PyPedal, an open source software package for pedigree analysis (United States)

    The open source software package PyPedal ( was first released in 2002, and provided users with a set of simple tools for manipulating pedigrees. Its flexibility has been demonstrated by its used in a number of settings for large and small populations. After substantia...

  14. Two Search Techniques within a Human Pedigree Database


    Gersting, J. M.; Conneally, P. M.; Rogers, K.


    This paper presents the basic features of two search techniques from MEGADATS-2 (MEdical Genetics Acquisition and DAta Transfer System), a system for collecting, storing, retrieving and plotting human family pedigrees. The individual search provides a quick method for locating an individual in the pedigree database. This search uses a modified soundex coding and an inverted file structure based on a composite key. The navigational search uses a set of pedigree traversal operations (individual...

  15. How the Aridification of Australia Structured the Biogeography and Influenced the Diversification of a Large Lineage of Australian Cicadas. (United States)

    Owen, Christopher L; Marshall, David C; Hill, Kathy B R; Simon, Chris


    Over the last 30 million years, Australia's landscape has undergone dramatic cooling and drying due to the establishment of the Antarctic Circumpolar Current and change in global CO$_{2}$ levels. Studies have shown that many Australian organisms went extinct during these major cooling events, while others experienced adaptive radiations and increases in diversification rates as a result of exploiting new niches in the arid zone. Despite the many studies on diversification and biogeography in Australia, few have been continent-wide and none have focused on a group of organisms adapted to feeding on plants. We studied 162 species of cicadas in the Australian Pauropsalta complex, a large generic lineage within the tribe Cicadettini. We asked whether there were changes in the diversification rate of Pauropsalta over time and if so: 1) which clades were associated with the rate change? 2) did timing of rate shifts correspond to known periods of dramatic historical climate change, 3) did increases in diversification rate along select lineages correspond to adaptive radiations with movement into the arid zone? To address these questions, we estimated a molecular phylogeny of the Pauropsalta complex using ${\\sim}$5300 bp of nucleotide sequence data distributed among five loci (one mtDNA locus and four nDNA loci). We found that this large group of cicadas did not diversify at a constant rate as they spread through Australia; instead the signature of decreasing diversification rate changed roughly around the time of the expansion of the east Antarctic ice sheets ${\\sim}$16 Ma and the glaciation of the northern hemisphere ${\\sim}$3 Ma. Unlike other Australian taxa, the Pauropsalta complex did not explosively radiate in response to an early invasion of the arid zone. Instead multiple groups invaded the arid zone and experienced rates of diversification similar to mesic-distributed taxa. We found evidence for relictual groups, located in pre-Mesozoic habitat, that have not

  16. Undergraduate student drinking and related harms at an Australian university: web-based survey of a large random sample

    Directory of Open Access Journals (Sweden)

    Hallett Jonathan


    Full Text Available Abstract Background There is considerable interest in university student hazardous drinking among the media and policy makers. However there have been no population-based studies in Australia to date. We sought to estimate the prevalence and correlates of hazardous drinking and secondhand effects among undergraduates at a Western Australian university. Method We invited 13,000 randomly selected undergraduate students from a commuter university in Australia to participate in an online survey of university drinking. Responses were received from 7,237 students (56%, who served as participants in this study. Results Ninety percent had consumed alcohol in the last 12 months and 34% met criteria for hazardous drinking (AUDIT score ≥ 8 and greater than 6 standard drinks in one sitting in the previous month. Men and Australian/New Zealand residents had significantly increased odds (OR: 2.1; 95% CI: 1.9-2.3; OR: 5.2; 95% CI: 4.4-6.2 of being categorised as dependent (AUDIT score 20 or over than women and non-residents. In the previous 4 weeks, 13% of students had been insulted or humiliated and 6% had been pushed, hit or otherwise assaulted by others who were drinking. One percent of respondents had experienced sexual assault in this time period. Conclusions Half of men and over a third of women were drinking at hazardous levels and a relatively large proportion of students were negatively affected by their own and other students' drinking. There is a need for intervention to reduce hazardous drinking early in university participation. Trial registration ACTRN12608000104358

  17. PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population.

    Directory of Open Access Journals (Sweden)

    Oren E Livne


    Full Text Available Founder populations and large pedigrees offer many well-known advantages for genetic mapping studies, including cost-efficient study designs. Here, we describe PRIMAL (PedigRee IMputation ALgorithm, a fast and accurate pedigree-based phasing and imputation algorithm for founder populations. PRIMAL incorporates both existing and original ideas, such as a novel indexing strategy of Identity-By-Descent (IBD segments based on clique graphs. We were able to impute the genomes of 1,317 South Dakota Hutterites, who had genome-wide genotypes for ~300,000 common single nucleotide variants (SNVs, from 98 whole genome sequences. Using a combination of pedigree-based and LD-based imputation, we were able to assign 87% of genotypes with >99% accuracy over the full range of allele frequencies. Using the IBD cliques we were also able to infer the parental origin of 83% of alleles, and genotypes of deceased recent ancestors for whom no genotype information was available. This imputed data set will enable us to better study the relative contribution of rare and common variants on human phenotypes, as well as parental origin effect of disease risk alleles in >1,000 individuals at minimal cost.

  18. Large-scale geographic variation in distribution and abundance of Australian deep-water kelp forests.

    Directory of Open Access Journals (Sweden)

    Ezequiel M Marzinelli

    Full Text Available Despite the significance of marine habitat-forming organisms, little is known about their large-scale distribution and abundance in deeper waters, where they are difficult to access. Such information is necessary to develop sound conservation and management strategies. Kelps are main habitat-formers in temperate reefs worldwide; however, these habitats are highly sensitive to environmental change. The kelp Ecklonia radiate is the major habitat-forming organism on subtidal reefs in temperate Australia. Here, we provide large-scale ecological data encompassing the latitudinal distribution along the continent of these kelp forests, which is a necessary first step towards quantitative inferences about the effects of climatic change and other stressors on these valuable habitats. We used the Autonomous Underwater Vehicle (AUV facility of Australia's Integrated Marine Observing System (IMOS to survey 157,000 m2 of seabed, of which ca 13,000 m2 were used to quantify kelp covers at multiple spatial scales (10-100 m to 100-1,000 km and depths (15-60 m across several regions ca 2-6° latitude apart along the East and West coast of Australia. We investigated the large-scale geographic variation in distribution and abundance of deep-water kelp (>15 m depth and their relationships with physical variables. Kelp cover generally increased with latitude despite great variability at smaller spatial scales. Maximum depth of kelp occurrence was 40-50 m. Kelp latitudinal distribution along the continent was most strongly related to water temperature and substratum availability. This extensive survey data, coupled with ongoing AUV missions, will allow for the detection of long-term shifts in the distribution and abundance of habitat-forming kelp and the organisms they support on a continental scale, and provide information necessary for successful implementation and management of conservation reserves.

  19. The asteroid impact connection of planetary evolution with special reference to large Precambrian and Australian impacts

    CERN Document Server

    Glikson, Andrew Y


    When in 1981 Louis and Walter Alvarez, the father and son team, unearthed a tell-tale Iridium-rich sedimentary horizon at the 65 million years-old Cretaceous-Tertiary boundary at Gubbio, Italy, their find heralded a paradigm shift in the study of terrestrial evolution.  Since the 1980s the discovery and study of asteroid impact ejecta in the oldest well-preserved terrains of Western Australia and South Africa, by Don Lowe, Gary Byerly, Bruce Simonson, Scott Hassler, the author and others, and the documentation of new exposed and buried impact structures in several continents, have led to a resurgence of the idea of the catastrophism theory of Cuvier, previously largely supplanted by the uniformitarian theory of Hutton and Lyell. Several mass extinction of species events are known to have occurred in temporal proximity to large asteroid impacts, global volcanic eruptions and continental splitting. Likely links are observed between asteroid clusters and the 580 Ma acritarch radiation, end-Devonian extinction, ...

  20. pedigreejs: a web-based graphical pedigree editor. (United States)

    Carver, Tim; Cunningham, Alex P; Babb de Villiers, Chantal; Lee, Andrew; Hartley, Simon; Tischkowitz, Marc; Walter, Fiona M; Easton, Douglas F; Antoniou, Antonis C


    The collection, management and visualization of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they are time consuming to capture, and can be difficult to build, manipulate and visualize graphically. Several standalone graphical pedigree editors and drawing applications exist but there are no freely available lightweight graphical pedigree editors that can be easily configured and incorporated into web applications. We developed 'pedigreejs', an interactive graphical pedigree editor written in JavaScript, which uses standard pedigree nomenclature. Pedigreejs provides an easily configurable, extensible and lightweight pedigree editor. It makes use of an open-source Javascript library to define a hierarchical layout and to produce images in scalable vector graphics (SVG) format that can be viewed and edited in web browsers. The software is freely available under GPL licence ( Supplementary data are available at Bioinformatics online.

  1. Comparison of association mapping methods in a complex pedigreed population

    DEFF Research Database (Denmark)

    Sahana, Goutam; Guldbrandtsen, Bernt; Janss, Luc


    to collect SNP signals in intervals, to avoid the scattering of a QTL signal over multiple neighboring SNPs. Methods not accounting for genetic background (full pedigree information) performed worse, and methods using haplotypes were considerably worse with a high false-positive rate, probably due...... to the presence of low-frequency haplotypes. It was necessary to account for full relationships among individuals to avoid excess false discovery. Although the methods were tested on a cattle pedigree, the results are applicable to any population with a complex pedigree structure...

  2. Pedigree Analysis of Holstein Bulls in Slovakia

    Directory of Open Access Journals (Sweden)

    Ivan Pavlík


    Full Text Available The aim of the study was to evaluate the genetic diversity in Holstein bulls population in Slovakia by the methods of pedigree analysis. The population was represented by the bulls with reserve of frozen semen doses in AI centers. Whole reference population consisted of 169 bulls born from 1997 to 2009. For calculation of diversity parameters the program Endog v.4.8 (Gutiérrez, Goyache, 2005 was used. An average maximal number of generations traced was 9.35, 3.06 complete generations and equivalent number of generations traced was 5.71. An average coefficient of inbreeding was 2.48%, individual increase in inbreeding was 0.53% and average relatedness was 2.72%. The 167 bulls from 169 were inbred (98.82%. An average number of offsprings per bull was 107.70 with maximal number 1,641 offsprings. The effective population size computed via individual increase in inbreeding was 94.50. The effective number of founders was 88, effective number of ancestors 31 and only 13 ancestors described 50% of diversity. From these results we can conclude that the diversity of Holstein bulls is reduced by more factors (inbreeding, high relatedness, bottlenecks. Obtained results point out the need to use new outbred bull lines for mating cows.

  3. The nurses' self-concept instrument (NSCI): a comparison of domestic and international student nurses' professional self-concepts from a large Australian University. (United States)

    Angel, Elizabeth; Craven, Rhonda; Denson, Nida


    Professional self-concept is a critical driver of job satisfaction. In Australia, as international nursing enrolments rise, nursing is increasingly characterised by a professional body of international nurses who may differ from domestic Australian nurses in their nursing self-concept. At present, little is known about the extent to which domestic and international students nurses' self-concepts may differ. The present study aimed to elucidate and contrast domestic and international nursing students' self-concepts from one large Australian university. A total of 253 domestic (n=218) and international (n=35) undergraduate nursing students from a large public university in Sydney, Australia completed the Nurses' Self-Concept Instrument (NSCI). Multiple-Indicator-Multiple-Indicator-Cause (MIMIC) modelling was used to assess the effects of student group (domestic and international) on the latent self-concept factors of the NSCI. Domestic and international students' professional self-concepts were similarly high. MIMIC modelling demonstrated that domestic students had a higher patient care self-concept in comparison to international students. Results imply that it may be useful for Australian universities to foster strategies that enhance specific domains of self-concepts (e.g., care) which may be underdeveloped for at least some cultural groups within the international nursing student population compared with domestic nursing students. Copyright © 2011 Elsevier Ltd. All rights reserved.

  4. The value of extended pedigrees for next-generation analysis of complex disease in the rhesus macaque. (United States)

    Vinson, Amanda; Prongay, Kamm; Ferguson, Betsy


    Complex diseases (e.g., cardiovascular disease and type 2 diabetes, among many others) pose the biggest threat to human health worldwide and are among the most challenging to investigate. Susceptibility to complex disease may be caused by multiple genetic variants (GVs) and their interaction, by environmental factors, and by interaction between GVs and environment, and large study cohorts with substantial analytical power are typically required to elucidate these individual contributions. Here, we discuss the advantages of both power and feasibility afforded by the use of extended pedigrees of rhesus macaques (Macaca mulatta) for genetic studies of complex human disease based on next-generation sequence data. We present these advantages in the context of previous research conducted in rhesus macaques for several representative complex diseases. We also describe a single, multigeneration pedigree of Indian-origin rhesus macaques and a sample biobank we have developed for genetic analysis of complex disease, including power of this pedigree to detect causal GVs using either genetic linkage or association methods in a variance decomposition approach. Finally, we summarize findings of significant heritability for a number of quantitative traits that demonstrate that genetic contributions to risk factors for complex disease can be detected and measured in this pedigree. We conclude that the development and application of an extended pedigree to analysis of complex disease traits in the rhesus macaque have shown promising early success and that genome-wide genetic and higher order -omics studies in this pedigree are likely to yield useful insights into the architecture of complex human disease.

  5. Exome sequencing of a multigenerational human pedigree.

    Directory of Open Access Journals (Sweden)

    Dale J Hedges


    Full Text Available Over the next few years, the efficient use of next-generation sequencing (NGS in human genetics research will depend heavily upon the effective mechanisms for the selective enrichment of genomic regions of interest. Recently, comprehensive exome capture arrays have become available for targeting approximately 33 Mb or approximately 180,000 coding exons across the human genome. Selective genomic enrichment of the human exome offers an attractive option for new experimental designs aiming to quickly identify potential disease-associated genetic variants, especially in family-based studies. We have evaluated a 2.1 M feature human exome capture array on eight individuals from a three-generation family pedigree. We were able to cover up to 98% of the targeted bases at a long-read sequence read depth of > or = 3, 86% at a read depth of > or = 10, and over 50% of all targets were covered with > or = 20 reads. We identified up to 14,284 SNPs and small indels per individual exome, with up to 1,679 of these representing putative novel polymorphisms. Applying the conservative genotype calling approach HCDiff, the average rate of detection of a variant allele based on Illumina 1 M BeadChips genotypes was 95.2% at > or = 10x sequence. Further, we propose an advantageous genotype calling strategy for low covered targets that empirically determines cut-off thresholds at a given coverage depth based on existing genotype data. Application of this method was able to detect >99% of SNPs covered > or = 8x. Our results offer guidance for "real-world" applications in human genetics and provide further evidence that microarray-based exome capture is an efficient and reliable method to enrich for chromosomal regions of interest in next-generation sequencing experiments.

  6. Validation of DNA-based identification software by computation of pedigree likelihood ratios. (United States)

    Slooten, K


    Disaster victim identification (DVI) can be aided by DNA-evidence, by comparing the DNA-profiles of unidentified individuals with those of surviving relatives. The DNA-evidence is used optimally when such a comparison is done by calculating the appropriate likelihood ratios. Though conceptually simple, the calculations can be quite involved, especially with large pedigrees, precise mutation models etc. In this article we describe a series of test cases designed to check if software designed to calculate such likelihood ratios computes them correctly. The cases include both simple and more complicated pedigrees, among which inbred ones. We show how to calculate the likelihood ratio numerically and algebraically, including a general mutation model and possibility of allelic dropout. In Appendix A we show how to derive such algebraic expressions mathematically. We have set up these cases to validate new software, called Bonaparte, which performs pedigree likelihood ratio calculations in a DVI context. Bonaparte has been developed by SNN Nijmegen (The Netherlands) for the Netherlands Forensic Institute (NFI). It is available free of charge for non-commercial purposes (see for details). Commercial licenses can also be obtained. The software uses Bayesian networks and the junction tree algorithm to perform its calculations. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  7. Stages of Change, Smoking Behaviour and Readiness to Quit in a Large Sample of Indigenous Australians Living in Eight Remote North Queensland Communities

    Directory of Open Access Journals (Sweden)

    Robyn McDermott


    Full Text Available Tobacco smoking is a major health issue for Indigenous Australians, however there are few interventions with demonstrated efficacy in this population. The Transtheoretical Model may provide a useful framework for describing smoking behaviour and assessing readiness to quit, with the aim of developing better interventions. Interviews were conducted with 593 Indigenous Australians in eight rural and remote communities in north Queensland, to examine stages of change and smoking behaviour. Among current smokers, 39.6% and 43.4% were in Precontemplation and Contemplation stages respectively. A further 13.9% were making preparations to quit (Preparation whilst only 3.2% said they were actively trying to quit (Action. When analysed by stage of change, the pattern of smoking-related behaviours conformed to the results of past research using the model. Importantly however, distribution of individuals across the stages opposes those observed in investigations of smoking behaviour in non-Indigenous Australian populations. The Transtheoretical Model can be used to meaningfully classify Indigenous smokers in remote north Queensland according to stages along the behaviour change continuum. Importantly, in this large sample across eight communities, most Indigenous smokers were not making preparations to change their smoking behaviour. This suggests that interventions should focus on promoting movement toward the Preparation and Action stages of change.

  8. Partitioning of copy-number genotypes in pedigrees

    Directory of Open Access Journals (Sweden)

    Andelfinger Gregor U


    Full Text Available Abstract Background Copy number variations (CNVs and polymorphisms (CNPs have only recently gained the genetic community's attention. Conservative estimates have shown that CNVs and CNPs might affect more than 10% of the genome and that they may be at least as important as single nucleotide polymorphisms in assessing human variability. Widely used tools for CNP analysis have been implemented in Birdsuite and PLINK for the purpose of conducting genetic association studies based on the unpartitioned total number of CNP copies provided by the intensities from Affymetrix's Genome-Wide Human SNP Array. Here, we are interested in partitioning copy number variations and polymorphisms in extended pedigrees for the purpose of linkage analysis on familial data. Results We have developed CNGen, a new software for the partitioning of copy number polymorphism using the integrated genotypes from Birdsuite with the Affymetrix platform. The algorithm applied to familial trios or extended pedigrees can produce partitioned copy number genotypes with distinct parental alleles. We have validated the algorithm using simulations on a complex pedigree structure using frequencies calculated from a real dataset of 300 genotyped samples from 42 pedigrees segregating a congenital heart defect phenotype. Conclusions CNGen is the first published software for the partitioning of copy number genotypes in pedigrees, making possible the use CNPs and CNVs for linkage analysis. It was implemented with the Python interpreter version 2.5.2. It was successfully tested on current Linux, Windows and Mac OS workstations.

  9. The Sex, Age, and Me study: recruitment and sampling for a large mixed-methods study of sexual health and relationships in an older Australian population. (United States)

    Lyons, Anthony; Heywood, Wendy; Fileborn, Bianca; Minichiello, Victor; Barrett, Catherine; Brown, Graham; Hinchliff, Sharron; Malta, Sue; Crameri, Pauline


    Older people are often excluded from large studies of sexual health, as it is assumed that they are not having sex or are reluctant to talk about sensitive topics and are therefore difficult to recruit. We outline the sampling and recruitment strategies from a recent study on sexual health and relationships among older people. Sex, Age and Me was a nationwide Australian study that examined sexual health, relationship patterns, safer-sex practices and STI knowledge of Australians aged 60 years and over. The study used a mixed-methods approach to establish baseline levels of knowledge and to develop deeper insights into older adult's understandings and practices relating to sexual health. Data collection took place in 2015, with 2137 participants completing a quantitative survey and 53 participating in one-on-one semi-structured interviews. As the feasibility of this type of study has been largely untested until now, we provide detailed information on the study's recruitment strategies and methods. We also compare key characteristics of our sample with national estimates to assess its degree of representativeness. This study provides evidence to challenge the assumptions that older people will not take part in sexual health-related research and details a novel and successful way to recruit participants in this area.

  10. Checking Consistency of Pedigree Information is NP-complete

    DEFF Research Database (Denmark)

    Aceto, Luca; Hansen, Jens A.; Ingolfsdottir, Anna

    Consistency checking is a fundamental computational problem in genetics. Given a pedigree and information on the genotypes of some of the individuals in it, the aim of consistency checking is to determine whether these data are consistent with the classic Mendelian laws of inheritance. This probl...

  11. The potential for LiDAR technology to map fire fuel hazard over large areas of Australian forest. (United States)

    Price, Owen F; Gordon, Christopher E


    Fuel load is a primary determinant of fire spread in Australian forests. In east Australian forests, litter and canopy fuel loads and hence fire hazard are thought to be highest at and beyond steady-state fuel loads 15-20 years post-fire. Current methods used to predict fuel loads often rely on course-scale vegetation maps and simple time-since-fire relationships which mask fine-scale processes influencing fuel loads. Here we use Light Detecting and Remote Sensing technology (LiDAR) and field surveys to quantify post-fire mid-story and crown canopy fuel accumulation and fire hazard in Dry Sclerophyll Forests of the Sydney Basin (Australia) at fine spatial-scales (20 × 20 m cell resolution). Fuel cover was quantified in three strata important for crown fire propagation (0.5-4 m, 4-15 m, >15 m) over a 144 km(2) area subject to varying fire fuel ages. Our results show that 1) LiDAR provided a precise measurement of fuel cover in each strata and a less precise but still useful predictor of surface fuels, 2) cover varied greatly within a mapped vegetation class of the same fuel age, particularly for elevated fuel, 3) time-since-fire was a poor predictor of fuel cover and crown fire hazard because fuel loads important for crown fire propagation were variable over a range of fire fuel ages between 2 and 38 years post-fire, and 4) fuel loads and fire hazard can be high in the years immediately following fire. Our results show the benefits of spatially and temporally specific in situ fuel sampling methods such as LiDAR, and are widely applicable for fire management actions which aim to decrease human and environmental losses due to wildfire. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Mental health service use and need for care of Australians without diagnoses of mental disorders: findings from a large epidemiological survey. (United States)

    Bobevski, I; Rosen, A; Meadows, G


    While epidemiological surveys worldwide have found a considerable proportion of people using mental health services not to have a diagnosis of a mental disorder, with possible implications of service overuse, other work has suggested that most people without a current diagnosis who used services exhibited other indicators of need. The aims of the present study were, using somewhat different categorisations than previous work, to investigate whether: (1) Australians without a diagnosis of a mental disorder who used mental health services had other indicators of need; and (2) how rate and frequency of service use in Australia related to level of need, then to discuss the findings in light of recent developments in Australian Mental Health Policy and other epidemiological and services research findings. Data from the Australian National Survey of Mental Health and Wellbeing (NSMHWB) 2007 was analysed. Most people using mental health services had evident indicators of need for mental health care (MHC), and most of those with lower evident levels of need did not make heavy use of services. Only a small proportion of individuals without any disorders or need indicators received MHC (4%). Although this latter group comprises a fair proportion of service users when extrapolating to the Australian population (16%), the vast majority of these individuals only sought brief primary-care or counselling treatment rather than consultations with psychiatrists. Access and frequency of MHC consultations were highest for people with diagnosed lifetime disorders, followed by people with no diagnosed disorders but other need indicators, and least for people with no identified need indicators. Limitations include some disorders not assessed in interview and constraints based on survey size to investigate subgroups defined, for instance, by socioeconomic advantage and disadvantage individually or by characteristics of area. MHC for individuals with no recognised disorders or other

  13. Australian Government Information Resources


    Chapman, Bert


    Provides an overview of Australian Government information resources. Features content from Australian Government agency websites such as the Department of Environment and Energy, Department of Defence, Australian National Maritime Museum, ANZAC Memorial in Sydney, Department of Immigration & Border Protection, Australian Bureau of Statistics, Australian Dept. of Agriculture and Water Resources, Australian Parliament, Australian Treasury, Australian Transport Safety Board, and Australian Parl...

  14. Genetic diversity analysis of two commercial breeds of pigs using genomic and pedigree data. (United States)

    Zanella, Ricardo; Peixoto, Jane O; Cardoso, Fernando F; Cardoso, Leandro L; Biegelmeyer, Patrícia; Cantão, Maurício E; Otaviano, Antonio; Freitas, Marcelo S; Caetano, Alexandre R; Ledur, Mônica C


    Genetic improvement in livestock populations can be achieved without significantly affecting genetic diversity if mating systems and selection decisions take genetic relationships among individuals into consideration. The objective of this study was to examine the genetic diversity of two commercial breeds of pigs. Genotypes from 1168 Landrace (LA) and 1094 Large White (LW) animals from a commercial breeding program in Brazil were obtained using the Illumina PorcineSNP60 Beadchip. Inbreeding estimates based on pedigree (F x) and genomic information using runs of homozygosity (F ROH) and the single nucleotide polymorphisms (SNP) by SNP inbreeding coefficient (F SNP) were obtained. Linkage disequilibrium (LD), correlation of linkage phase (r) and effective population size (N e ) were also estimated. Estimates of inbreeding obtained with pedigree information were lower than those obtained with genomic data in both breeds. We observed that the extent of LD was slightly larger at shorter distances between SNPs in the LW population than in the LA population, which indicates that the LW population was derived from a smaller N e . Estimates of N e based on genomic data were equal to 53 and 40 for the current populations of LA and LW, respectively. The correlation of linkage phase between the two breeds was equal to 0.77 at distances up to 50 kb, which suggests that genome-wide association and selection should be performed within breed. Although selection intensities have been stronger in the LA breed than in the LW breed, levels of genomic and pedigree inbreeding were lower for the LA than for the LW breed. The use of genomic data to evaluate population diversity in livestock animals can provide new and more precise insights about the effects of intense selection for production traits. Resulting information and knowledge can be used to effectively increase response to selection by appropriately managing the rate of inbreeding, minimizing negative effects of inbreeding

  15. A comparison of different algorithms for phasing haplotypes using Holstein cattle genotypes and pedigree data. (United States)

    Miar, Younes; Sargolzaei, Mehdi; Schenkel, Flavio S


    Phasing genotypes to haplotypes is becoming increasingly important due to its applications in the study of diseases, population and evolutionary genetics, imputation, and so on. Several studies have focused on the development of computational methods that infer haplotype phase from population genotype data. The aim of this study was to compare phasing algorithms implemented in Beagle, Findhap, FImpute, Impute2, and ShapeIt2 software using 50k and 777k (HD) genotyping data. Six scenarios were considered: no-parents, sire-progeny pairs, sire-dam-progeny trios, each with and without pedigree information in Holstein cattle. Algorithms were compared with respect to their phasing accuracy and computational efficiency. In the studied population, Beagle and FImpute were more accurate than other phasing algorithms. Across scenarios, phasing accuracies for Beagle and FImpute were 99.49-99.90% and 99.44-99.99% for 50k, respectively, and 99.90-99.99% and 99.87-99.99% for HD, respectively. Generally, FImpute resulted in higher accuracy when genotypic information of at least one parent was available. In the absence of parental genotypes and pedigree information, Beagle and Impute2 (with double the default number of states) were slightly more accurate than FImpute. Findhap gave high phasing accuracy when parents' genotypes and pedigree information were available. In terms of computing time, Findhap was the fastest algorithm followed by FImpute. FImpute was 30 to 131, 87 to 786, and 353 to 1,400 times faster across scenarios than Beagle, ShapeIt2, and Impute2, respectively. In summary, FImpute and Beagle were the most accurate phasing algorithms. Moreover, the low computational requirement of FImpute makes it an attractive algorithm for phasing genotypes of large livestock populations. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  16. How The Australian National University's emergency management and continuity plans responded to a large-scale fire. (United States)

    Meehan, Bart


    On 18th January, 2003, one of the worst bushfires in the history of Australia hit the capital city, Canberra. By the time it was under control, four people were dead and more than 500 homes were destroyed. The fire also destroyed the Mount Stromlo campus of the Australian National University, the location of the Research School of Astronomy and Astrophysics. In response to the fires, the University initiated its emergency management strategy and business continuity plans. These allowed the School to recommence limited operations within two weeks of the disaster. This paper details a case study of the impact of the fire (in part using personal recollections of staff and students), and the emergency response implemented by the University. It describes the development of the University's emergency management strategy, with its emphasis on the key elements of clear chain of command and flexibility in developing an incident-specific response. The paper also provides an assessment of how the plan worked during an actual incident and some of the lessons learned, including the importance of the early response, managing the impact on people, media management, insurance and communications.

  17. Familial atrophia maculosa varioliformis cutis: case report and pedigree analysis. (United States)

    Qu, T; Wang, B; Fang, K


    Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data of the pedigree and presumed that AVMV is in a autosomal dominant inheritance.

  18. Clinical features and genetic analysis of tuberous sclerosis pedigrees

    Directory of Open Access Journals (Sweden)

    LI Ya-qin


    Full Text Available Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444-2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis.

  19. Validation of the MOS Social Support Survey 6-item (MOS-SSS-6) measure with two large population-based samples of Australian women. (United States)

    Holden, Libby; Lee, Christina; Hockey, Richard; Ware, Robert S; Dobson, Annette J


    This study aimed to validate a 6-item 1-factor global measure of social support developed from the Medical Outcomes Study Social Support Survey (MOS-SSS) for use in large epidemiological studies. Data were obtained from two large population-based samples of participants in the Australian Longitudinal Study on Women's Health. The two cohorts were aged 53-58 and 28-33 years at data collection (N = 10,616 and 8,977, respectively). Items selected for the 6-item 1-factor measure were derived from the factor structure obtained from unpublished work using an earlier wave of data from one of these cohorts. Descriptive statistics, including polychoric correlations, were used to describe the abbreviated scale. Cronbach's alpha was used to assess internal consistency and confirmatory factor analysis to assess scale validity. Concurrent validity was assessed using correlations between the new 6-item version and established 19-item version, and other concurrent variables. In both cohorts, the new 6-item 1-factor measure showed strong internal consistency and scale reliability. It had excellent goodness-of-fit indices, similar to those of the established 19-item measure. Both versions correlated similarly with concurrent measures. The 6-item 1-factor MOS-SSS measures global functional social support with fewer items than the established 19-item measure.

  20. VIPER:a visualisation tool for exploring inheritance inconsistencies in genotyped pedigrees


    Paterson, Trevor; Graham, Martin; Kennedy, Jessie; Law, Andy


    Background Pedigree genotype datasets are used for analysing genetic inheritance and to map genetic markers and traits. Such datasets consist of hundreds of related animals genotyped for thousands of genetic markers and invariably contain multiple errors in both the pedigree structure and in the associated individual genotype data. These errors manifest as apparent inheritance inconsistencies in the pedigree, and invalidate analyses of marker inheritance patterns across the dataset. Cleaning ...

  1. Qualitative approaches to large scale studies and students' achievements in Science and Mathematics - An Australian and Nordic Perspective

    DEFF Research Database (Denmark)

    Davidsson, Eva; Sørensen, Helene

    Large scale studies play an increasing role in educational politics and results from surveys such as TIMSS and PISA are extensively used in medial debates about students' knowledge in science and mathematics. Although this debate does not usually shed light on the more extensive quantitative...... analyses, there is a lack of investigations which aim at exploring what is possible to conclude or not to conclude from these analyses. There is also a need for more detailed discussions about what trends could be discern concerning students' knowledge in science and mathematics. The aim of this symposium...... is therefore to highlight and discuss different approaches to how data from large scale studies could be used for additional analyses in order to increase our understanding of students' knowledge in science and mathematics, but also to explore possible longitudinal trends, hidden in the data material...

  2. Differences between genomic-based and pedigree-based relationships in a chicken population, as a function of quality control and pedigree links among individuals. (United States)

    Wang, H; Misztal, I; Legarra, A


    This work studied differences between expected (calculated from pedigree) and realized (genomic, from markers) relationships in a real population, the influence of quality control on these differences, and their fit to current theory. Data included 4940 pure line chickens across five generations genotyped for 57,636 SNP. Pedigrees (5762 animals) were available for the five generations, pedigree starting on the first one. Three levels of quality control were used. With no quality control, mean difference between realized and expected relationships for different type of relationships was ≤ 0.04 with standard deviation ≤ 0.10. With strong quality control (call rate ≥ 0.9, parent-progeny conflicts, minor allele frequency and use of only autosomal chromosomes), these numbers reduced to ≤ 0.02 and ≤ 0.04, respectively. While the maximum difference was 1.02 with the complete data, it was only 0.18 with the latest three generations of genotypes (but including all pedigrees). Variation of expected minus realized relationships agreed with theoretical developments and suggests an effective number of loci of 70 for this population. When the pedigree is complete and as deep as the genotypes, the standard deviation of difference between the expected and realized relationships is around 0.04, all categories confounded. Standard deviation of differences larger than 0.10 suggests bad quality control, mistakes in pedigree recording or genotype labelling, or insufficient depth of pedigree. © 2014 Blackwell Verlag GmbH.

  3. Identifying Critical Habitat for Australian Freshwater Turtles in a Large Regulated Floodplain: Implications for Environmental Water Management (United States)

    Ocock, J. F.; Bino, G.; Wassens, S.; Spencer, J.; Thomas, R. F.; Kingsford, R. T.


    Freshwater turtles face many threats, including habitat loss and river regulation reducing occupancy and contributing to population decline. Limited knowledge of hydrological conditions required to maintain viable turtle populations in large floodplain wetlands hinders effective adaptive management of environmental water in regulated rivers. We surveyed three turtle species over 4 years across the Lower Murrumbidgee River floodplain, a large wetland complex with a long history of water resource development. Using site and floodplain metrics and generalized linear models, within a Bayesian Model Averaging framework, we quantified the main drivers affecting turtle abundance. We also used a hierarchical modeling approach, requiring large sample sizes, quantifying possible environmental effects while accounting for detection probabilities of the eastern long-necked turtle ( Chelodina longicollis). The three species varied in their responses to hydrological conditions and connectivity to the main river channel. Broad-shelled turtles ( Chelodina expansa) and Macquarie River turtles ( Emydura macquarii macquarii) had restricted distributions, centered on frequently inundated wetlands close to the river, whereas the eastern long-necked turtles were more widely distributed, indicating an ability to exploit variable habitats. We conclude that turtle communities would benefit from long-term management strategies that maintain a spatiotemporal mosaic of hydrological conditions. More specifically, we identified characteristics of refuge habitats and stress the importance of maintaining their integrity during dry periods. Neighboring habitats can be targeted during increased water availability years to enhance feeding and dispersal opportunities for freshwater turtles.

  4. Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

    Directory of Open Access Journals (Sweden)

    Loy Clement T


    Full Text Available Abstract Background Frontotemporal lobar degeneration (FTLD represents a clinically, pathologically and genetically heterogenous neurodegenerative disorder, often complicated by neurological signs such as motor neuron-related limb weakness, spasticity and paralysis, parkinsonism and gait disturbances. Linkage to chromosome 9p had been reported for pedigrees with the neurodegenerative disorder, frontotemporal lobar degeneration (FTLD and motor neuron disease (MND. The objective in this study is to identify the genetic locus in a multi-generational Australian family with FTLD-MND. Methods Clinical review and standard neuropathological analysis of brain sections from affected pedigree members. Genome-wide scan using microsatellite markers and single nucleotide polymorphism fine mapping. Examination of candidate genes by direct DNA sequencing. Results Neuropathological examination revealed cytoplasmic deposition of the TDP-43 protein in three affected individuals. Moreover, we identify a family member with clinical Alzheimer's disease, and FTLD-Ubiquitin neuropathology. Genetic linkage and haplotype analyses, defined a critical region between markers D9S169 and D9S1845 on chromosome 9p21. Screening of all candidate genes within this region did not reveal any novel genetic alterations that co-segregate with disease haplotype, suggesting that one individual carrying a meiotic recombination may represent a phenocopy. Re-analysis of linkage data using the new affection status revealed a maximal two-point LOD score of 3.24 and a multipoint LOD score of 3.41 at marker D9S1817. This provides the highest reported LOD scores from a single FTLD-MND pedigree. Conclusion Our reported increase in the minimal disease region should inform other researchers that the chromosome 9 locus may be more telomeric than predicted by published recombination boundaries. Moreover, the existence of a family member with clinical Alzheimer's disease, and who shares the disease

  5. Australian coal

    Energy Technology Data Exchange (ETDEWEB)


    Total export shipments of coal in Australia in the year ending June 30 1985 reached a record of 83.8 Mt. The export trade is expected to bring in an income of 4 billion Australian dollars in the current year making coal Australia's biggest revenue-earning export commodity. This article presents a brief overview of the Australian coal industry with production and export statistics and information on major open pit and underground mines.

  6. Rules for resolving Mendelian inconsistencies in nuclear pedigrees typed for two-allele markers.

    Directory of Open Access Journals (Sweden)

    Sajjad Ahmad Khan

    Full Text Available Gene-mapping studies, regularly, rely on examination for Mendelian transmission of marker alleles in a pedigree as a way of screening for genotyping errors and mutations. For analysis of family data sets, it is, usually, necessary to resolve or remove the genotyping errors prior to consideration. At the Center of Inherited Disease Research (CIDR, to deal with their large-scale data flow, they formalized their data cleaning approach in a set of rules based on PedCheck output. We scrutinize via carefully designed simulations that how well CIDR's data cleaning rules work in practice. We found that genotype errors in siblings are detected more often than in parents for less polymorphic SNPs and vice versa for more polymorphic SNPs. Through computer simulations, we conclude that some of the CIDR's rules work poorly in some circumstances, and we suggest a set of modified data cleaning rules that may work better than CIDR's rules.

  7. Pedigrees, propaganda, and paranoia: family studies in a historical context. (United States)

    Lombardo, P A


    This article reviews the uses of family studies carried out in the early 20th century under the banner of eugenics, a companion discipline to early genetics. It explores how, in an attempt to analyze and quantify purportedly biologic bases of social problems, the eugenicists constructed pedigree charts of notoriously "defective" families. Investigation of individuals with suspect traits formed the basis for instruction of field workers who linked those traits to larger groups. The resulting eugenic family studies provided a "scientific" face for a popular hereditarian mythology that claimed to explain all social failure in systematic terms. The eugenicists were successful in fueling public fear about the growing "army of idiots and imbeciles" graphically depicted in their pedigree charts. Their success was the result of a finely crafted educational program--propaganda that reduced science to simplistic terms. The tendency to oversimplify concepts of genetic causation and the rush to amplify the significance of research findings through the popular media is also apparent today. What begins as publicity has the potential to be transformed into propaganda. Although many in the scientific community are understandably reluctant to revisit the abuses of the past, that community must confront the history of eugenics as a necessary antidote to the genetic hype that surrounds us.

  8. Completeness of pedigree and family cancer history for ovarian cancer patients. (United States)

    Son, Yedong; Lim, Myong Cheol; Seo, Sang Soo; Kang, Sokbom; Park, Sang Yoon


    To investigate the completeness of pedigree and of number of pedigree analysis to know the acceptable familial history in Korean women with ovarian cancer. Interview was conducted in 50 ovarian cancer patients for obtaining familial history three times over the 6 weeks. The completeness of pedigree is estimated in terms of familial history of disease (cancer), health status (health living, disease and death), and onset age of disease and death. The completion of pedigree was 79.3, 85.1, and 85.6% at the 1st, 2nd, and 3rd time of interview and the time for pedigree analysis was 34.3, 10.8, and 3.1 minutes, respectively. The factors limiting pedigree analysis were as follows: out of contact with their relatives (38%), no living ancestors who know the family history (34%), dispersed family member because of the Korean War (16%), unknown cause of death (12%), reluctance to ask medical history of relatives (10%), and concealing their ovarian cancer (10%). The percentage of cancers revealed in 1st (2%) and 2nd degree (8%) relatives were increasing through surveys, especially colorectal cancer related with Lynch syndrome (4%). Analysis of pedigree at least two times is acceptable in Korean woman with ovarian cancer from the first study. The completion of pedigree is increasing, while time to take family history is decreasing during three time survey.

  9. Cell organisation in the colonic crypt: a theoretical comparison of the pedigree and niche concepts.

    Directory of Open Access Journals (Sweden)

    Richard C van der Wath

    Full Text Available The intestinal mucosa is a monolayer of rapidly self-renewing epithelial cells which is not only responsible for absorption of water and nutrients into the bloodstream but also acts as a protective barrier against harmful microbes entering the body. New functional epithelial cells are produced from stem cells, and their proliferating progeny. These stem cells are found within millions of crypts (tubular pits spaced along the intestinal tract. The entire intestinal epithelium is replaced every 2-3 days in mice (3-5 days in humans and hence cell production, differentiation, migration and turnover need to be tightly regulated. Malfunctions in this regulation are strongly linked to inflammatory bowel diseases and to the formation of adenomas and ultimately cancerous tumours. Despite a great deal of biological experimentation and observation, precisely how colonic crypts are regulated to produce mature colonocytes remains unclear. To assist in understanding how cell organisation in crypts is achieved, two very different conceptual models of cell behaviour are developed here, referred to as the 'pedigree' and the 'niche' models. The pedigree model proposes that crypt cells are largely preprogrammed and receive minimal prompting from the environment as they move through a routine of cell differentiation and proliferation to become mature colonocytes. The niche model proposes that crypt cells are primarily influenced by the local microenvironments along the crypt, and that predetermined cell behaviour plays a negligible role in their development. In this paper we present a computational model of colonic crypts in the mouse, which enables a comparison of the quality and controllability of mature coloncyte production by crypts operating under these two contrasting conceptual models of crypt regulation.

  10. Vegetarian diet and all-cause mortality: Evidence from a large population-based Australian cohort - the 45 and Up Study. (United States)

    Mihrshahi, Seema; Ding, Ding; Gale, Joanne; Allman-Farinelli, Margaret; Banks, Emily; Bauman, Adrian E


    The vegetarian diet is thought to have health benefits including reductions in type 2 diabetes, hypertension, and obesity. Evidence to date suggests that vegetarians tend to have lower mortality rates when compared with non-vegetarians, but most studies are not population-based and other healthy lifestyle factors may have confounded apparent protective effects. The aim of this study was to evaluate the association between categories of vegetarian diet (including complete, semi and pesco-vegetarian) and all-cause mortality in a large population-based Australian cohort. The 45 and Up Study is a cohort study of 267,180 men and women aged ≥45years in New South Wales (NSW), Australia. Vegetarian diet status was assessed by baseline questionnaire and participants were categorized into complete vegetarians, semi-vegetarians (eat meat≤once/week), pesco-vegetarians and regular meat eaters. All-cause mortality was determined by linked registry data to mid-2014. Cox proportional hazards models quantified the association between vegetarian diet and all-cause mortality adjusting for a range of potential confounding factors. Among 243,096 participants (mean age: 62.3years, 46.7% men) there were 16,836 deaths over a mean 6.1years of follow-up. Following extensive adjustment for potential confounding factors there was no significant difference in all-cause mortality for vegetarians versus non-vegetarians [HR=1.16 (95% CI 0.93-1.45)]. There was also no significant difference in mortality risk between pesco-vegetarians [HR=0.79 (95% CI 0.59-1.06)] or semi-vegetarians [HR=1.12 (95% CI 0.96-1.31)] versus regular meat eaters. We found no evidence that following a vegetarian diet, semi-vegetarian diet or a pesco-vegetarian diet has an independent protective effect on all-cause mortality. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Breed-Predispositions to Cancer in Pedigree Dogs (United States)

    Dobson, Jane M.


    Cancer is a common problem in dogs and although all breeds of dog and crossbred dogs may be affected, it is notable that some breeds of pedigree dogs appear to be at increased risk of certain types of cancer suggesting underlying genetic predisposition to cancer susceptibility. Although the aetiology of most cancers is likely to be multifactorial, the limited genetic diversity seen in purebred dogs facilitates genetic linkage or association studies on relatively small populations as compared to humans, and by using newly developed resources, genome-wide association studies in dog breeds are proving to be a powerful tool for unravelling complex disorders. This paper will review the literature on canine breed susceptibility to histiocytic sarcoma, osteosarcoma, haemangiosarcoma, mast cell tumours, lymphoma, melanoma, and mammary tumours including the recent advances in knowledge through molecular genetic, cytogenetic, and genome wide association studies. PMID:23738139

  12. Haplotype inference in general pedigrees with two sites

    Directory of Open Access Journals (Sweden)

    Doan Duong D


    Full Text Available Abstract Background Genetic disease studies investigate relationships between changes in chromosomes and genetic diseases. Single haplotypes provide useful information for these studies but extracting single haplotypes directly by biochemical methods is expensive. A computational method to infer haplotypes from genotype data is therefore important. We investigate the problem of computing the minimum number of recombination events for general pedigrees with two sites for all members. Results We show that this NP-hard problem can be parametrically reduced to the Bipartization by Edge Removal problem and therefore can be solved by an O(2k · n2 exact algorithm, where n is the number of members and k is the number of recombination events. Conclusions Our work can therefore be useful for genetic disease studies to track down how changes in haplotypes such as recombinations relate to genetic disease.

  13. Family genome browser: visualizing genomes with pedigree information. (United States)

    Juan, Liran; Liu, Yongzhuang; Wang, Yongtian; Teng, Mingxiang; Zang, Tianyi; Wang, Yadong


    Families with inherited diseases are widely used in Mendelian/complex disease studies. Owing to the advances in high-throughput sequencing technologies, family genome sequencing becomes more and more prevalent. Visualizing family genomes can greatly facilitate human genetics studies and personalized medicine. However, due to the complex genetic relationships and high similarities among genomes of consanguineous family members, family genomes are difficult to be visualized in traditional genome visualization framework. How to visualize the family genome variants and their functions with integrated pedigree information remains a critical challenge. We developed the Family Genome Browser (FGB) to provide comprehensive analysis and visualization for family genomes. The FGB can visualize family genomes in both individual level and variant level effectively, through integrating genome data with pedigree information. Family genome analysis, including determination of parental origin of the variants, detection of de novo mutations, identification of potential recombination events and identical-by-decent segments, etc., can be performed flexibly. Diverse annotations for the family genome variants, such as dbSNP memberships, linkage disequilibriums, genes, variant effects, potential phenotypes, etc., are illustrated as well. Moreover, the FGB can automatically search de novo mutations and compound heterozygous variants for a selected individual, and guide investigators to find high-risk genes with flexible navigation options. These features enable users to investigate and understand family genomes intuitively and systematically. The FGB is available at © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail:

  14. Hierarchical linear modeling of longitudinal pedigree data for genetic association analysis

    DEFF Research Database (Denmark)

    Tan, Qihua; B Hjelmborg, Jacob V; Thomassen, Mads


    -effect models to explicitly model the genetic relationship. These have proved to be an efficient way of dealing with sample clustering in pedigree data. Although current algorithms implemented in popular statistical packages are useful for adjusting relatedness in the mixed modeling of genetic effects...... associated with blood pressure with estimated inflation factors of 0.99, suggesting that our modeling of random effects efficiently handles the genetic relatedness in pedigrees. Application to simulated data captures important variants specified in the simulation. Our results show that the method is useful......Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees, which could affect statistical assessment of the genetic effects. Approaches have been proposed to integrate kinship correlation into the mixed...

  15. In Silico Genome Mismatch Scanning to Map Breast Cancer Genes in Extended Pedigrees (United States)


    University College London Annals of Human Genetics (2008) 72,279–287 279 A. Thomas et al. Methods IBD sharing in pedigrees There is considerable sufficient to maintain interest in the region. 282 Annals of Human Genetics (2008) 72,279–287 C© 2007 The Authors Journal compilation C© 2007...for observed IBS instead of IBD, and for sporadic cases reducing the number of meioses, pedigrees with meiosis count d in the 25 to 30 range are

  16. Machado-Joseph Disease in Pedigrees of Azorean descent is Linked to Chromosome 14


    George-Hyslop, P. St; Rogaeva, E.; Huterer, J.; Tsuda, T.; Santos, J.; Haines, J. L.; Schlumpf, K.; Rogaev, E. I.; Liang, Y.; McLachlan, D. R. Crapper; Kennedy, J.; Weissenbach, J.; Billingsley, G. D.; Cox, D. W.; Lang, A. E.


    A locus for Machado-Joseph disease (MJD) has recently been mapped to a 30-cM region of chromosome 14q in five pedigrees of Japanese descent. MJD is a clinically pleomorphic neurodegenerative disease that was originally described in subjects of Azorean descent. In light of the nonallelic heterogeneity in other inherited spinocere-bellar ataxias, we were interested to determine if the MJD phenotype in Japanese and Azorean pedigrees arose from mutations at the same locus. We provide evidence tha...

  17. Detection of bias in animal model pedigree indices of heifers

    Directory of Open Access Journals (Sweden)



    Full Text Available The objective of the study was to test whether the pedigree indices (PI of heifers are biased, and if so, whether the magnitude of the bias varies in different groups of heifers. Therefore, two animal model evaluations with two different data sets were computed. Data with all the records from the national evaluation in December 1994 was used to obtain estimated breeding values (EBV for 305-days' milk yield and protein yield. In the second evaluation, the PIs were estimated for cows calving the first time in 1993 by excluding all their production records from the data. Three different statistics, a simple t-test, the linear regression of EBV on PI, and the polynomial regression of the difference in the predictions (EBV-PI on PI, were computed for three groups of first parity Ayrshire cows: daughters of proven sires, daughters of young sires, and daughters of bull dam candidates. A practically relevant bias was found only in the PIs for the daughters of young sires. On average their PIs were biased upwards by 0.20 standard deviations (78.8 kg for the milk yield and by 0.21 standard deviations (2.2 kg for the protein yield. The polynomial regression analysis showed that the magnitude of the bias in the PIs changed somewhat with the size of the PIs.;

  18. Two pedigrees of familial advanced sleep phase syndrome in Japan. (United States)

    Satoh, Kohtoku; Mishima, Kazuo; Inoue, Yuichi; Ebisawa, Takashi; Shimizu, Tetsuo


    To determine whether a known missense mutation (bp2106 A/G) in hPer2 (a human homolog of the Drosophila period gene) for familial advanced sleep phase syndrome in a Caucasian family is involved in Japanese familial advanced sleep phase syndrome pedigrees. We identified 2 new Japanese families with advanced sleep phase syndrome, and a systematic survey was carried out in 28 relatives of theses 2 families. A total of 9 affected subjects were identified. The affected members showed significantly strong morningness tendencies compared with the unaffected members in various circadian parameters including the Horne-Ostberg Morningness-Eveningness Questionnaire score (77.3 +/- 4.8 vs 57.5 +/- 7.6, p sleep-onset time (20:45 +/- 75 min vs 23:16 +/- 64 min, p DNA samples were obtained from 7 affected and 7 unaffected subjects. None of the tested subjects possessed the missense mutation (bp2106 A/G) in hPer2. Furthermore, there is no significant linkage between affected subjects with hPer2 region by 2-point mapping and by direct sequencing of 23 exons of hPer2. These findings support the notion of genetic heterogeneity of familial advanced sleep phase syndrome cases in humans. The search for more familial advanced sleep phase syndrome cases and for loci other than hPer2 are necessary to further examine the roles of circadian-related genes in genetically determined human circadian rhythm disorders.

  19. Estimating Heritability from Nuclear Family and Pedigree Data. (United States)

    Bochud, Murielle


    Heritability is a measure of familial resemblance. Estimating the heritability of a trait could be one of the first steps in the gene mapping process. This chapter describes how to estimate heritability for quantitative traits from nuclear and pedigree data using the ASSOC program in the Statistical Analysis in Genetic Epidemiology (S.A.G.E.) software package. Estimating heritability rests on the assumption that the total phenotypic variance of a quantitative trait can be partitioned into independent genetic and environmental components. In turn, the genetic variance can be divided into an additive (polygenic) genetic variance, a dominance variance (nonlinear interaction effects between alleles at the same locus) and an epistatic variance (interaction effects between alleles at different loci). The last two are often assumed to be zero. The additive genetic variance represents the average effects of individual alleles on the phenotype and reflects transmissible resemblance between relatives. Heritability in the narrow sense (h 2 ) refers to the ratio of the additive genetic variance to the total phenotypic variance. Heritability is a dimensionless population-specific parameter. ASSOC estimates association parameters (regression coefficients) and variance components from family data. ASSOC uses a linear regression model in which the total residual variance is partitioned, after regressing on covariates, into the sum of random components such as an additive polygenic component, a random sibship component, random nuclear family components, a random marital component, and an individual-specific random component. Assortative mating, nonrandom ascertainment of families, and failure to account for key confounding factors may bias heritability estimates.

  20. Foundation Assessment of the Influence of IT Management Practices on Customer Relationship Management (CRM in a Large Australian Federal Government Agency

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    Judy Young


    Full Text Available The research presented in this paper was motivated by the thrust in Australia to move to whole of e-government. The aim was to determine the level of readiness towards the implementation of customer relationship management (CRM in Australian Federal Government departments and agencies. As such the research presented in this paper represents an initial phase of research that focusses on CRM implementation in the highest level of government in this country. To address the research objective, data were collected through the distribution of an electronic questionnaire to 23 Australian Federal Government departments and agencies using a previously validated questionnaire. The main finding of the research was that a majority of the departments and agencies are only in the early stages of moving toward implementation of collaborative CRM. This suggests that a concerted effort needs to be made to encourage less developed departments and agencies to make this transition. Until collaborative CRM is accomplished, the ultimate goal of whole of e-government in Australia cannot become a reality. However, a positive aspect of the results is that some departments and agencies are in a position of collaborative CRM. This means that those not so positioned can benefit from the ‘best practice’ processes already adopted in the more CRM advanced Australian Federal government departments and agencies.

  1. Ethical issues in bipolar disorders pedigree research: privacy concerns, informed consent, and grounds for waiver. (United States)

    Parker, Lisa S


    Focusing on bipolar disorders research, this article considers ethical issues of informed consent and privacy arising in genetic pedigree research at two stages: the construction of tentative pedigrees to determine family eligibility for study and, subsequently, the enrollment of subjects in and conduct of the family study. Increasing concern to protect the privacy of family members of primary subjects or probands, following ethical controversy over a survey study at Virginia Commonwealth University, has led some researchers and Institutional Review Boards (IRBs) to apply informed consent requirements to those represented on a tentative pedigree at the initial stage of research. This article analyzes the possible benefits, risks, and burdens to prospective subjects of seeking prospective consent for pedigree construction at this initial stage. It argues that the likely risk-benefit ratio favors granting a waiver of consent requirements for this stage of pedigree research and presents grounds for IRBs to grant such a waiver. The article closes by considering particular ethical concerns that should be addressed in the informed consent discussion when enrolling subjects in pedigree studies of bipolar disorder, including concerns about subjects' competence to consent, management of interim and incidental findings, and issues particular to psychiatric research.

  2. Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk. (United States)

    Waller, Rosalie G; Darlington, Todd M; Wei, Xiaomu; Madsen, Michael J; Thomas, Alun; Curtin, Karen; Coon, Hilary; Rajamanickam, Venkatesh; Musinsky, Justin; Jayabalan, David; Atanackovic, Djordje; Rajkumar, S Vincent; Kumar, Shaji; Slager, Susan; Middha, Mridu; Galia, Perrine; Demangel, Delphine; Salama, Mohamed; Joseph, Vijai; McKay, James; Offit, Kenneth; Klein, Robert J; Lipkin, Steven M; Dumontet, Charles; Vachon, Celine M; Camp, Nicola J


    The high-risk pedigree (HRP) design is an established strategy to discover rare, highly-penetrant, Mendelian-like causal variants. Its success, however, in complex traits has been modest, largely due to challenges of genetic heterogeneity and complex inheritance models. We describe a HRP strategy that addresses intra-familial heterogeneity, and identifies inherited segments important for mapping regulatory risk. We apply this new Shared Genomic Segment (SGS) method in 11 extended, Utah, multiple myeloma (MM) HRPs, and subsequent exome sequencing in SGS regions of interest in 1063 MM / MGUS (monoclonal gammopathy of undetermined significance-a precursor to MM) cases and 964 controls from a jointly-called collaborative resource, including cases from the initial 11 HRPs. One genome-wide significant 1.8 Mb shared segment was found at 6q16. Exome sequencing in this region revealed predicted deleterious variants in USP45 (p.Gln691* and p.Gln621Glu), a gene known to influence DNA repair through endonuclease regulation. Additionally, a 1.2 Mb segment at 1p36.11 is inherited in two Utah HRPs, with coding variants identified in ARID1A (p.Ser90Gly and p.Met890Val), a key gene in the SWI/SNF chromatin remodeling complex. Our results provide compelling statistical and genetic evidence for segregating risk variants for MM. In addition, we demonstrate a novel strategy to use large HRPs for risk-variant discovery more generally in complex traits.

  3. Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.

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    Rosalie G Waller


    Full Text Available The high-risk pedigree (HRP design is an established strategy to discover rare, highly-penetrant, Mendelian-like causal variants. Its success, however, in complex traits has been modest, largely due to challenges of genetic heterogeneity and complex inheritance models. We describe a HRP strategy that addresses intra-familial heterogeneity, and identifies inherited segments important for mapping regulatory risk. We apply this new Shared Genomic Segment (SGS method in 11 extended, Utah, multiple myeloma (MM HRPs, and subsequent exome sequencing in SGS regions of interest in 1063 MM / MGUS (monoclonal gammopathy of undetermined significance-a precursor to MM cases and 964 controls from a jointly-called collaborative resource, including cases from the initial 11 HRPs. One genome-wide significant 1.8 Mb shared segment was found at 6q16. Exome sequencing in this region revealed predicted deleterious variants in USP45 (p.Gln691* and p.Gln621Glu, a gene known to influence DNA repair through endonuclease regulation. Additionally, a 1.2 Mb segment at 1p36.11 is inherited in two Utah HRPs, with coding variants identified in ARID1A (p.Ser90Gly and p.Met890Val, a key gene in the SWI/SNF chromatin remodeling complex. Our results provide compelling statistical and genetic evidence for segregating risk variants for MM. In addition, we demonstrate a novel strategy to use large HRPs for risk-variant discovery more generally in complex traits.

  4. Publishing and Australian literature : crisis, decline or transformation?

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    Bode, Katherine


    Full Text Available The globalisation and consolidation of book publishing is widely seen as having negative consequences for Australian literature. Some commentators argue that this shift is detrimental to Australian literature as a whole; others identify the growth of multinational publishing conglomerates with a specific decline in Australian literary fiction. This article explores both positions, first identifying and investigating trends in Australian novel publication and comparing these to trends in the publication of novels from other countries as well as other Australian-originated literature (specifically, poetry and auto/biography. It then considers the specific case of Australian literary fiction, before looking in detail at the output of large publishers of Australian novels. This analysis reveals a recent decline in Australian novel and poetry titles, but offers a more complex picture of this trend than dominant expressions of nostalgia and alarm about the fate of Australian literature and publishing would suggest.

  5. Publishing and Australian Literature: Crisis, Decline or Transformation?

    Directory of Open Access Journals (Sweden)

    Katherine Bode


    Full Text Available The globalisation and consolidation of book publishing is widely seen as having negative consequences for Australian literature. Some commentators argue that this shift is detrimental to Australian literature as a whole; others identify the growth of multinational publishing conglomerates with a specific decline in Australian literary fiction. This article explores both positions, first identifying and investigating trends in Australian novel publication and comparing these to trends in the publication of novels from other countries as well as other Australian-originated literature (specifically, poetry and auto/biography. It then considers the specific case of Australian literary fiction, before looking in detail at the output of large publishers of Australian novels. This analysis reveals a recent decline in Australian novel and poetry titles, but offers a more complex picture of this trend than dominant expressions of nostalgia and alarm about the fate of Australian literature and publishing would suggest.

  6. Australian energy statistics - Australian energy update 2005

    Energy Technology Data Exchange (ETDEWEB)

    Donaldson, K.


    ABARE's energy statistics include comprehensive coverage of Australian energy consumption, by state, by industry and by fuel. Australian Energy Update 2005 provides an overview of recent trends and description of the full coverage of the dataset. There are 14 Australian energy statistical tables available as free downloads (product codes 13172 to 13185).

  7. Identification of kin structure among Guam rail founders: a comparison of pedigrees and DNA profiles (United States)

    Haig, Susan M.; Ballou, J.D.; Casna, N.J.


    Kin structure among founders can have a significant effect on subsequent population structure. Here we use the correlation between DNA profile similarity and relatedness calculated from pedigrees to test hypotheses regarding kin structure among founders to the captive Guam rail (Rallus owstoni) population. Five different pedigrees were generated under the following hypotheses: (i) founders are unrelated; (ii) founders are unrelated except for same-nest chicks; (iii) founders from the same major site are siblings; (iv) founders from the same local site are siblings; and (v) founders are related as defined by a UPGMA cluster analysis of DNA similarity data. Relatedness values from pedigrees 1, 2 and 5 had the highest correlation with DNA similarity but the correlation between relatedness and similarity were not significantly different among pedigrees. Pedigree 5 resulted in the highest correlation overall when using only relatedness values that changed as a result of different founder hypotheses. Thus, founders were assigned relatedness based on pedigree 5 because it had the highest correlations with DNA similarity, was the most conservative approach, and incorporated all field data. The analyses indicated that estimating relatedness using DNA profiles remains problematic, therefore we compared mean kinship, a measure of genetic importance, with mean DNA profile similarity to determine if genetic importance among individuals could be determined via use of DNA profiles alone. The significant correlation suggests this method may provide more information about population structure than was previously thought. Thus, DNA profiles can provide a reasonable explanation for founder relatedness and mean DNA profile similarity may be helpful in determining relative genetic importance of individuals when detailed pedigrees are absent.

  8. Mortality and morbidity due to gastric dilatation-volvulus syndrome in pedigree dogs in the UK. (United States)

    Evans, Katy M; Adams, Vicki J


    To estimate breed-specific risk of death due to, and prevalence of, gastric dilatation-volvulus (GDV) in UK pedigree dogs. Data were available on the reported cause of and age at death and occurrence of and age at diagnosis of disease from the 2004 purebred dog health survey. A total of 15,881 dogs of 165 breeds had died in the previous 10 years; GDV was the cause of death in 65 breeds. There were 36,006 live dogs of 169 breeds of which 48 breeds had experienced > or =1 episodes of GDV. Prevalence ratios were used to estimate breed-specific GDV mortality and morbidity risks. Gastric dilatation-volvulus was the cause of death for 389 dogs, representing 2.5% (95% CI: 2.2-2.7) of all deaths reported and the median age at death was 7.92 years. There were 253 episodes in 238 live dogs. The median age at first diagnosis was five years. Breeds at greatest risk of GDV mortality were the bloodhound, Grand Bleu de Gascogne, German longhaired pointer and Neapolitan mastiff. Breeds at greatest risk of GDV morbidity were the Grand Bleu de Gascogne, bloodhound, otterhound, Irish setter and Weimaraner. These results suggest that 16 breeds, mainly large/giant, are at increased risk of morbidity/mortality due to GDV.

  9. Australian synchrotron radiation science

    International Nuclear Information System (INIS)

    White, J.W.


    Full text: The Australian Synchrotron Radiation Program, ASRP, has been set up as a major national research facility to provide facilities for scientists and technologists in physics, chemistry, biology and materials science who need access to synchrotron radiation. Australia has a strong tradition in crystallography and structure determination covering small molecule crystallography, biological and protein crystallography, diffraction science and materials science and several strong groups are working in x-ray optics, soft x-ray and vacuum ultra-violet physics. A number of groups whose primary interest is in the structure and dynamics of surfaces, catalysts, polymer and surfactant science and colloid science are hoping to use scattering methods and, if experience in Europe, Japan and USA can be taken as a guide, many of these groups will need third generation synchrotron access. To provide for this growing community, the Australian National Beamline at the Photon Factory, Tsukuba, Japan, has been established since 1990 through a generous collaboration with Japanese colleagues, the beamline equipment being largely produced in Australia. This will be supplemented in 1997 with access to the world's most powerful synchrotron x-ray source at the Advanced Photon Source, Argonne National Laboratory, USA. Some recent experiments in surface science using neutrons as well as x-rays from the Australian National Beamline will be used to illustrate one of the challenges that synchrotron x-rays may meet

  10. Health-related productivity losses increase when the health condition is co-morbid with psychological distress: findings from a large cross-sectional sample of working Australians

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    Vecchio Nerina


    Full Text Available Abstract Background The health condition of workers is known to impact on productivity outcomes. The relationship between health and productivity is of increasing interest amid the need to increase productivity to meet global financial challenges. Prevalence of psychological distress is also of growing concern in Australia with a two-fold increase in the prevalence of psychological distress in Australia from 1997-2005. Methods We used the cross-sectional data set from the Australian Work Outcomes Research Cost-benefit (WORC study to explore the impacts of health conditions with and without co-morbid psychological distress, compared to those with neither condition, in a sample of approximately 78,000 working Australians. The World Health Organisation Health and Performance Questionnaire was used which provided data on demographic characteristics, health condition and working conditions. Data were analysed using negative binomial logistic regression and multinomial logistic regression models for absenteeism and presenteeism respectively. Results For both absenteeism and presenteeism productivity measures there was a greater risk of productivity loss associated when health conditions were co-morbid with psychological distress. For some conditions this risk was much greater for those with co-morbid psychological distress compared to those without. Conclusions Co-morbid psychological distress demonstrates an increased risk of productivity loss for a range of health conditions. These findings highlight the need for further research to determine whether co-morbid psychological distress potentially exacerbates lost productivity.

  11. Health-related productivity losses increase when the health condition is co-morbid with psychological distress: findings from a large cross-sectional sample of working Australians. (United States)

    Holden, Libby; Scuffham, Paul A; Hilton, Michael F; Ware, Robert S; Vecchio, Nerina; Whiteford, Harvey A


    The health condition of workers is known to impact on productivity outcomes. The relationship between health and productivity is of increasing interest amid the need to increase productivity to meet global financial challenges. Prevalence of psychological distress is also of growing concern in Australia with a two-fold increase in the prevalence of psychological distress in Australia from 1997-2005. We used the cross-sectional data set from the Australian Work Outcomes Research Cost-benefit (WORC) study to explore the impacts of health conditions with and without co-morbid psychological distress, compared to those with neither condition, in a sample of approximately 78,000 working Australians. The World Health Organisation Health and Performance Questionnaire was used which provided data on demographic characteristics, health condition and working conditions. Data were analysed using negative binomial logistic regression and multinomial logistic regression models for absenteeism and presenteeism respectively. For both absenteeism and presenteeism productivity measures there was a greater risk of productivity loss associated when health conditions were co-morbid with psychological distress. For some conditions this risk was much greater for those with co-morbid psychological distress compared to those without. Co-morbid psychological distress demonstrates an increased risk of productivity loss for a range of health conditions. These findings highlight the need for further research to determine whether co-morbid psychological distress potentially exacerbates lost productivity.

  12. [Essentials of pharmacophylogeny: knowledge pedigree, epistemology and paradigm shift]. (United States)

    Hao, Da-cheng; Xiao, Pei-gen; Liu, Li-wei; Peng, Yong; He, Chun-nian


    Chinese materia medica resource (CMM resource) is the foundation of the development of traditional Chinese medicine. In the study of sustainable utilization of CMM resource, adopting innovative theory and method to find new CMM resource is one of hotspots and always highlighted. Pharmacophylogeny interrogates the phylogenetic relationship of medicinal organisms (especially medicinal plants), as well as the intrinsic correlation of morphological taxonomy, molecular phylogeny, chemical constituents, and therapeutic efficacy (ethnopharmacology and pharmacological activity). This new discipline may have the power to change the way we utilize medicinal plant resources and develop plant-based drugs. Phylogenomics is the crossing of evolutionary biology and genomics, in which genome data are utilized for evolutionary reconstructions. Phylogenomics can be integrated into the flow chart of drug discovery and development, and extends the field of pharmacophylogeny at the omic level, thus the concept of pharmacophylogenomics could be redefined in the context of plant pharmaceutical resources. This contribution gives a brief discourse of knowledge pedigree of pharmacophylogeny, epistemology and paradigm shift, highlighting the theoretical and practical values of pharmacophylogenomics. Many medicinally important tribes and genera, such as Clematis, Pulsatilla, Anemone, Cimicifugeae, Nigella, Delphinieae, Adonideae, Aquilegia, Thalictrum, and Coptis, belong to Ranunculaceae family. Compared to other plant families, Ranunculaceae has the most species that are recorded in China Pharmacopoeia (CP) 2010. However, many Ranunculaceae species, e. g., those that are closely related to CP species, as well as those endemic to China, have not been investigated in depth, and their phylogenetic relationship and potential in medicinal use remain elusive. As such, it is proposed to select Ranunculaceae to exemplify the utility of pharmacophylogenomics and to elaborate the new concept

  13. A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

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    Anouk Georges

    Full Text Available A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.

  14. A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism. (United States)

    Georges, Anouk; Cambisano, Nadine; Ahariz, Naïma; Karim, Latifa; Georges, Michel


    A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.

  15. SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

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    Sarah L. Nickerson


    Full Text Available Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*, establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS. Our findings expand both the genetic and phenotypic spectrum of this rare disorder, and highlight the value of high-density SNP analysis and whole exome sequencing as powerful and cost-effective tools in the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias.

  16. Protecting the privacy of family members in survey and pedigree research. (United States)

    Botkin, J


    The recent controversy at Virginia Commonwealth University involving research ethics raises important and complex issues in survey and pedigree research. The primary questions are whether family members of survey respondents themselves become subjects of the project and if they are subjects whether informed consent must be obtained for investigators to retain private information on these individuals. This article provides an analysis of the ethical issues and regulatory standards involved in this debate for consideration by investigators and institutional review boards. The analysis suggests that strong protections for the rights and welfare of subjects and their family members can be incorporated into survey and pedigree research protocols without hindering projects with extensive consent requirements.

  17. Multigenerational inheritance and clinical characteristics of three large pedigrees with early-onset type 2 diabetes in Jamaica Herencia multigeneracional y características clínicas de la diabetes tipo 2 de inicio temprano en tres árboles genealógicos grandes de Jamaica

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    James L. Mills


    Full Text Available OBJECTIVE: To document the existence and clinical characteristics of three large families with multigenerational inheritance of early-onset type 2 diabetes in Jamaica. METHODS: Three probands from large families with multigenerational inheritance of early-onset type 2 diabetes in at least three generations were detected at the University Hospital of the West Indies in Jamaica. Each proband at the time of diagnosis was OBJETIVO: Documentar la presencia de herencia multigeneracional de la diabetes de tipo II de inicio temprano en tres familias jamaiquinas grandes y describir sus características clínicas. MÉTODOS: En el Hospital Universitario de West Indies en Jamaica, se detectaron tres probandos de familias grandes en las que se observó herencia multigeneracional de la diabetes tipo 2 de inicio temprano en al menos tres generaciones. Al momento del diagnóstico, cada probando tenía # 25 años de edad, era delgado y no necesitó insulinoterapia. Se emprendieron estudios clínicos, metabólicos y genéticos con el fin de determinar las características particulares de la diabetes que presentan estas tres familias. RESULTADOS: Se investigaron tres árboles genealógicos -BK, SU y CA- conformados por 38, 48 y 113 miembros, respectivamente. Cada árbol presentaba herencia multigeneracional de diabetes tipo 2 de inicio temprano en al menos tres generaciones. En los tres árboles genealógicos, la media de la edad al momento del diagnóstico fue de 31,5 ± 2,9 años y 10 personas tenían menos de 25 años. Se observaron signos indicativos de sobrepeso, resistencia insulínica, baja secreción de insulina, dislipidemia y obesidad intrabdominal leve. No se hallaron anticuerpos contra las células de los islotes ni variantes en la secuencia de los genes MODY1 a MODY6. CONCLUSIONES: Algunas familias grandes de la población jamaiquina presentan herencia multigeneracional de la diabetes y otras características indicativas de diabetes tipo 2 de inicio

  18. Co-morbid depression is associated with poor work outcomes in persons with cardiovascular disease (CVD: A large, nationally representative survey in the Australian population

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    O'Neil Adrienne


    Full Text Available Abstract Background Co-morbid major depressive disorder (MDD and cardiovascular disease (CVD is associated with poor clinical and psychological outcomes. However, the full extent of the burden of, and interaction between, this co-morbidity on important vocational outcomes remains less clear, particularly at the population level. We examine the association of co-morbid MDD with work outcomes in persons with and without CVD. Methods This study utilised cross-sectional, population-based data from the 2007 Australian National Survey of Mental Health and Wellbeing (n = 8841 to compare work outcomes of individuals with diagnostically-defined MDD and CVD, MDD but not CVD, CVD but not MDD, with a reference group of "healthy" Australians. Workforce participation was defined as being in full- or part-time employment. Work functioning was measured using a WHO Disability Assessment Schedule item. Absenteeism was assessed using the 'days out of role' item. Results Of the four groups, those with co-morbid MDD and CVD were least likely to report workforce participation (adj OR:0.4, 95% CI: 0.3-0.6. Those with MDD only (adj OR:0.8, 95% CI:0.7-0.9 and CVD only (adj OR:0.8, 95% CI: 0.6-0.9 also reported significantly reduced odds of participation. Employed individuals with co-morbid MDD and CVD were 8 times as likely to experience impairments in work functioning (adj OR:8.1, 95% CI: 3.8- 17.3 compared with the reference group. MDD was associated with a four-fold increase in impaired functioning. Further, individuals with co-morbid MDD and CVD reported greatest likelihood of workplace absenteeism (adj. OR:3.0, 95% CI: 1.4-6.6. Simultaneous exposure to MDD and CVD conferred an even greater likelihood of poorer work functioning. Conclusions Co-morbid MDD and CVD is associated with significantly poorer work outcomes. Specifically, the effects of these conditions on work functioning are synergistic. The development of specialised treatment programs for those with co

  19. Co-morbid depression is associated with poor work outcomes in persons with cardiovascular disease (CVD): A large, nationally representative survey in the Australian population (United States)


    Background Co-morbid major depressive disorder (MDD) and cardiovascular disease (CVD) is associated with poor clinical and psychological outcomes. However, the full extent of the burden of, and interaction between, this co-morbidity on important vocational outcomes remains less clear, particularly at the population level. We examine the association of co-morbid MDD with work outcomes in persons with and without CVD. Methods This study utilised cross-sectional, population-based data from the 2007 Australian National Survey of Mental Health and Wellbeing (n = 8841) to compare work outcomes of individuals with diagnostically-defined MDD and CVD, MDD but not CVD, CVD but not MDD, with a reference group of "healthy" Australians. Workforce participation was defined as being in full- or part-time employment. Work functioning was measured using a WHO Disability Assessment Schedule item. Absenteeism was assessed using the 'days out of role' item. Results Of the four groups, those with co-morbid MDD and CVD were least likely to report workforce participation (adj OR:0.4, 95% CI: 0.3-0.6). Those with MDD only (adj OR:0.8, 95% CI:0.7-0.9) and CVD only (adj OR:0.8, 95% CI: 0.6-0.9) also reported significantly reduced odds of participation. Employed individuals with co-morbid MDD and CVD were 8 times as likely to experience impairments in work functioning (adj OR:8.1, 95% CI: 3.8- 17.3) compared with the reference group. MDD was associated with a four-fold increase in impaired functioning. Further, individuals with co-morbid MDD and CVD reported greatest likelihood of workplace absenteeism (adj. OR:3.0, 95% CI: 1.4-6.6). Simultaneous exposure to MDD and CVD conferred an even greater likelihood of poorer work functioning. Conclusions Co-morbid MDD and CVD is associated with significantly poorer work outcomes. Specifically, the effects of these conditions on work functioning are synergistic. The development of specialised treatment programs for those with co-morbid MDD and CVD is

  20. Systematic differences in the response of genetic variation to pedigree and genome-based selection methods. (United States)

    Heidaritabar, M; Vereijken, A; Muir, W M; Meuwissen, T; Cheng, H; Megens, H-J; Groenen, M A M; Bastiaansen, J W M


    Genomic selection (GS) is a DNA-based method of selecting for quantitative traits in animal and plant breeding, and offers a potentially superior alternative to traditional breeding methods that rely on pedigree and phenotype information. Using a 60 K SNP chip with markers spaced throughout the entire chicken genome, we compared the impact of GS and traditional BLUP (best linear unbiased prediction) selection methods applied side-by-side in three different lines of egg-laying chickens. Differences were demonstrated between methods, both at the level and genomic distribution of allele frequency changes. In all three lines, the average allele frequency changes were larger with GS, 0.056 0.064 and 0.066, compared with BLUP, 0.044, 0.045 and 0.036 for lines B1, B2 and W1, respectively. With BLUP, 35 selected regions (empirical P selected regions were identified. Empirical thresholds for local allele frequency changes were determined from gene dropping, and differed considerably between GS (0.167-0.198) and BLUP (0.105-0.126). Between lines, the genomic regions with large changes in allele frequencies showed limited overlap. Our results show that GS applies selection pressure much more locally than BLUP, resulting in larger allele frequency changes. With these results, novel insights into the nature of selection on quantitative traits have been gained and important questions regarding the long-term impact of GS are raised. The rapid changes to a part of the genetic architecture, while another part may not be selected, at least in the short term, require careful consideration, especially when selection occurs before phenotypes are observed.

  1. High mitochondrial mutation rates estimated from deep-rooting Costa Rican pedigrees (United States)

    Madrigal, Lorena; Melendez-Obando, Mauricio; Villegas-Palma, Ramon; Barrantes, Ramiro; Raventos, Henrieta; Pereira, Reynaldo; Luiselli, Donata; Pettener, Davide; Barbujani, Guido


    Estimates of mutation rates for the noncoding hypervariable Region I (HVR-I) of mitochondrial DNA (mtDNA) vary widely, depending on whether they are inferred from phylogenies (assuming that molecular evolution is clock-like) or directly from pedigrees. All pedigree-based studies so far were conducted on populations of European origin. In this paper we analyzed 19 deep-rooting pedigrees in a population of mixed origin in Costa Rica. We calculated two estimates of the HVR-I mutation rate, one considering all apparent mutations, and one disregarding changes at sites known to be mutational hot spots and eliminating genealogy branches which might be suspected to include errors, or unrecognized adoptions along the female lines. At the end of this procedure, we still observed a mutation rate equal to 1.24 × 10−6, per site per year, i.e., at least three-fold as high as estimates derived from phylogenies. Our results confirm that mutation rates observed in pedigrees are much higher than estimated assuming a neutral model of long-term HVRI evolution. We argue that, until the cause of these discrepancies will be fully understood, both lower estimates (i.e., those derived from phylogenetic comparisons) and higher, direct estimates such as those obtained in this study, should be considered when modeling evolutionary and demographic processes. PMID:22460349

  2. [Molecular genetic analysis for a pedigree with severe hereditary coagulation factor VII deficiency]. (United States)

    Ding, Qiu-lan; Wang, Hong-li; Wang, Xue-feng; Wang, Ming-shan; Fu, Qi-hua; Wu, Wen-man; Hu, Yi-qun; Wang, Zhen-yi


    To identify the genetic mutations of a severe inherited coagulation factor VII (FVII) deficiency pedigree. The diagnosis was validated by coagulant and haemostatic parameters. FVII gene mutations were screened in the propositus and his family members by DNA direct sequencing and confirmed by digestions of the restriction enzymes of the PCR production. Two heterozygous missense mutations were found in the propositus of the pedigree: a G to T transversion at position 9482 in exon 6 and a C to T mutation at position 11348 in exon 8 resulting in the amino acid substitution of Arg152 with Leu and Arg304 with Trp, respectively. A heterozygous single nucleotide deletion (C) at position 11487-11489(CCC) within exon 8 was identified, which predicted the frameshift mutation at position His351 followed by the changes of six corresponding amino acids and appearance of a premature protein caused by stop codon. The heterozygous mutations identified in the proband were derived from his father (Arg152 to Leu) and his mother (Arg304 to Trp mutation) and a heterozygous deletion (C) at position 11487-9(CCC). By tracing the other pedigree members, it was found that his grandmother had a heterozygous mutation of Arg304Trp and a heterozygous polymorphism of Arg353Gln and his grandfather had a heterozygous Arg152Leu mutation. Three heterozygous mutations were found in a pedigree with hereditary coagulation factor VII deficiency. Arg152Leu and deletion C at position 11487-9(CCC) were novel mutations.

  3. Inheritance of RFLP loci in a loblolly pine three-generation pedigree (United States)

    M.D. Devey; K.D. Jermstad; C.G. Tauer; D.B. Neale


    A high-density restriction fragment length polymorphism (RFLP) linkage map is being constructed for loblolly pine (Pinus taeda L.). Loblolly pine cDNA and genomic DNA clones were used as probes in hybridizations to genomic DNAs prepared from grandparents, parents, and progeny of a three-generation outbred pedigree. Approximately 200 probes were...

  4. Distribution of volatile composition in 'marion' ( rubus species hyb) blackberry pedigree. (United States)

    Du, Xiaofen; Finn, Chad; Qian, Michael C


    The distribution of volatile constituents in ancestral genotypes of 'Marion' blackberry's pedigree was investigated over two growing seasons. Each genotype in the pedigree had a specific volatile composition. Red raspberry was dominated by norisoprenoids, lactones, and acids. 'Logan' and 'Olallie' also had a norisoprenoid dominance but at much lower concentrations. The concentration of norisoprenoids in other blackberry genotypes was significantly lower. Terpenes and furanones were predominant in wild 'Himalaya' blackberry, whereas terpenes were the major volatiles in 'Santiam'. 'Marion', a selection from 'Chehalem' and 'Olallie', contained almost all of the volatile compounds in its pedigree at moderate amount. The chiral isomeric ratios of 11 pairs of compounds were also studied. Strong chiral isomeric preference was observed for most of the chiral compounds, and each cultivar had its unique chiral isomeric distribution. An inherent pattern was observed for some volatile compounds in the 'Marion' pedigree. Raspberry and 'Logan' had a very high concentration of beta-ionone, but was reduced by half in 'Olallie' and by another half in 'Marion' as the crossing proceeded. A high content of linalool in 'Olallie' and a low content in 'Chehalem' resulted in a moderate content of linalool in their progeny 'Marion'. However, the concentration of furaneol in 'Marion' was higher than in its parents. A high content of (S)-linalool in 'Olallie' and a racemic content of (S)-,(R)-linalool in 'Chehalem' resulted in a preference for the (S)-form in 'Marion'.

  5. Rooster Semen Cryopreservation: Effect of Pedigree Line and Male Age on Post-Thaw Sperm Function (United States)

    The fertility rates of cryopreserved poultry semen are highly variable and not reliable for use in preservation of commercial genetic stocks. Our objective was to evaluate the cryosurvival of semen from 8 pedigreed layer lines at the onset and end of production. Semen from 160 roosters (20/line) was...

  6. Identification of quantitative trait loci influencing wood specific gravity in an outbred pedigree of loblolly pine (United States)

    A. Groover; M. Devey; T. Fiddler; J. Lee; R. Megraw; T. Mitchel-Olds; B. Sherman; S. Vujcic; C. Williams; D. Neale


    We report the identification of quantitative trait loci (QTL) influencing wood specific gravity (WSG) in an outbred pedigree of loblolly pine (Pinus taeda L.) . QTL mapping in an outcrossing species is complicated by the presence of multiple alleles (>2) at QTL and marker loci. Multiple alleles at QTL allow the examination of interaction among...

  7. Consequences for diversity when prioritizing animals for conservation with pedigree or genomic information

    NARCIS (Netherlands)

    Engelsma, K.A.; Veerkamp, R.F.; Calus, M.P.L.; Windig, J.J.


    Up to now, prioritization of animals for conservation has been mainly based on pedigree information; however, genomic information may improve prioritization. In this study, we used two Holstein populations to investigate the consequences for genetic diversity when animals are prioritized with

  8. Systematic differences in the response of genetic variation to pedigree and genome-based selection methods

    NARCIS (Netherlands)

    Heidaritabar, M.; Vereijken, A.; Muir, W.M.; Meuwissen, T.H.E.; Cheng, H.; Megens, H.J.W.C.; Groenen, M.; Bastiaansen, J.W.M.


    Genomic selection (GS) is a DNA-based method of selecting for quantitative traits in animal and plant breeding, and offers a potentially superior alternative to traditional breeding methods that rely on pedigree and phenotype information. Using a 60¿K SNP chip with markers spaced throughout the

  9. Identification of Mendelian inconsistencies between SNP and pedigree Information of Sibs

    NARCIS (Netherlands)

    Calus, M.P.L.; Mulder, H.A.; Bastiaansen, J.W.M.


    Background Using SNP genotypes to apply genomic selection in breeding programs is becoming common practice. Tools to edit and check the quality of genotype data are required. Checking for Mendelian inconsistencies makes it possible to identify animals for which pedigree information and genotype

  10. Identification of Mendelian inconsistencies between SNP and pedigree information of sibs

    Directory of Open Access Journals (Sweden)

    Calus Mario PL


    Full Text Available Abstract Background Using SNP genotypes to apply genomic selection in breeding programs is becoming common practice. Tools to edit and check the quality of genotype data are required. Checking for Mendelian inconsistencies makes it possible to identify animals for which pedigree information and genotype information are not in agreement. Methods Straightforward tests to detect Mendelian inconsistencies exist that count the number of opposing homozygous marker (e.g. SNP genotypes between parent and offspring (PAR-OFF. Here, we develop two tests to identify Mendelian inconsistencies between sibs. The first test counts SNP with opposing homozygous genotypes between sib pairs (SIBCOUNT. The second test compares pedigree and SNP-based relationships (SIBREL. All tests iteratively remove animals based on decreasing numbers of inconsistent parents and offspring or sibs. The PAR-OFF test, followed by either SIB test, was applied to a dataset comprising 2,078 genotyped cows and 211 genotyped sires. Theoretical expectations for distributions of test statistics of all three tests were calculated and compared to empirically derived values. Type I and II error rates were calculated after applying the tests to the edited data, while Mendelian inconsistencies were introduced by permuting pedigree against genotype data for various proportions of animals. Results Both SIB tests identified animal pairs for which pedigree and genomic relationships could be considered as inconsistent by visual inspection of a scatter plot of pairwise pedigree and SNP-based relationships. After removal of 235 animals with the PAR-OFF test, SIBCOUNT (SIBREL identified 18 (22 additional inconsistent animals. Seventeen animals were identified by both methods. The numbers of incorrectly deleted animals (Type I error, were equally low for both methods, while the numbers of incorrectly non-deleted animals (Type II error, were considerably higher for SIBREL compared to SIBCOUNT. Conclusions

  11. Global adaptation patterns of Australian and CIMMYT spring bread wheat. (United States)

    Mathews, Ky L; Chapman, Scott C; Trethowan, Richard; Pfeiffer, Wolfgang; van Ginkel, Maarten; Crossa, Jose; Payne, Thomas; Delacy, Ian; Fox, Paul N; Cooper, Mark


    The International Adaptation Trial (IAT) is a special purpose nursery designed to investigate the genotype-by-environment interactions and worldwide adaptation for grain yield of Australian and CIMMYT spring bread wheat (Triticum aestivum L.) and durum wheat (T. turgidum L. var. durum). The IAT contains lines representing Australian and CIMMYT wheat breeding programs and was distributed to 91 countries between 2000 and 2004. Yield data of 41 reference lines from 106 trials were analysed. A multiplicative mixed model accounted for trial variance heterogeneity and inter-trial correlations characteristic of multi-environment trials. A factor analytic model explained 48% of the genetic variance for the reference lines. Pedigree information was then incorporated to partition the genetic line effects into additive and non-additive components. This model explained 67 and 56% of the additive by environment and non-additive by environment genetic variances, respectively. Australian and CIMMYT germplasm showed good adaptation to their respective target production environments. In general, Australian lines performed well in south and west Australia, South America, southern Africa, Iran and high latitude European and Canadian locations. CIMMYT lines performed well at CIMMYT's key yield testing location in Mexico (CIANO), north-eastern Australia, the Indo-Gangetic plains, West Asia North Africa and locations in Europe and Canada. Maturity explained some of the global adaptation patterns. In general, southern Australian germplasm were later maturing than CIMMYT material. While CIANO continues to provide adapted lines to northern Australia, selecting for yield among later maturing CIMMYT material in CIANO may identify lines adapted to southern and western Australian environments.

  12. Evolutionary and developmental implications of asymmetric brain folding in a large primate pedigree


    Atkinson, Elizabeth G.; Rogers, Jeffrey; Cheverud, James M.


    Bilateral symmetry is a fundamental property of the vertebrate central nervous system. Local deviations from symmetry provide various types of information about the development, evolution and function of elements within the CNS, especially the cerebral hemispheres. Here, we quantify the pattern and extent of asymmetry in cortical folding within the cerebrum of Papio baboons and assess the evolutionary and developmental implications of the findings. Analyses of directional asymmetry show a pop...

  13. Metaphyseal osteopathy in three Australian Kelpie siblings. (United States)

    Greenwell, C M; Brain, P H; Dunn, A L


    Metaphyseal osteopathy (MO) was diagnosed in three Australian Kelpie puppies that were presented for veterinary assessment of lameness. The three puppies were siblings. Each was from a different litter by the same breeding pair. The puppy in case one was seen by the authors, and the puppies in cases two and three were patients at other veterinary hospitals. However, the medical records and radiographs were examined and reviewed for this report. Radiographic investigation of the lameness revealed pathognomonic appearance of MO affecting the metaphyseal region of the long bones in all three puppies. The diagnosis was confirmed on histopathology in one patient. MO is considered a disease of large and giant-breed dogs, being rarely reported in non-large-breed dogs, and has not been reported in the Australian Kelpie, which is considered a medium-breed dog. This case series suggests a previously unreported breed predisposition to MO in the Australian Kelpie. © 2014 Australian Veterinary Association.

  14. A Narrow and Highly Significant Linkage Signal for Severe Bipolar Disorder in the Chromosome 5q33 Region in Latin American Pedigrees (United States)

    Jasinska, A.J.; Service, S.; Jawaheer, D.; DeYoung, J.; Levinson, M.; Zhang, Z.; Kremeyer, B.; Muller, H.; Aldana, I.; Garcia, J.; Restrepo, G.; Lopez, C.; Palacio, C.; Duque, C.; Parra, M.; Vega, J.; Ortiz, D.; Bedoya, G.; Mathews, C.; Davanzo, P.; Fournier, E.; Bejarano, J.; Ramirez, M.; Ortiz, C. Araya; Araya, X.; Molina, J.; Sabatti, C.; Reus, V.; Ospina, J.; Macaya, G.; Ruiz-Linares, A.; Freimer, N.B.


    We previously reported linkage of bipolar disorder to 5q33-q34 in families from two closely related population isolates, the Central Valley of Costa Rica (CVCR) and Antioquia, Colombia (CO). Here we present follow up results from fine-scale mapping in large CVCR and CO families segregating severe bipolar disorder, BP-I, and in 343 population trios/duos from CVCR and CO. Employing densely spaced SNPs to fine map the prior linkage peak region increases linkage evidence and clarifies the position of the putative BP-I locus. We performed two-point linkage analysis with 1134 SNPs in an approximately 9 Mb region between markers D5S410 and D5S422. Combining pedigrees from CVCR and CO yields a LOD score of 4.9 at SNP rs10035961. Two other SNPs (rs7721142 and rs1422795) within the same 94 kb region also displayed LOD scores greater than 4. This linkage peak coincides with our prior microsatellite results and suggests a narrowed BP-I susceptibility regions in these families. To investigate if the locus implicated in the familial form of BP-I also contributes to disease risk in the population, we followed up the family results with association analysis in duo and trio samples, obtaining signals within 2 Mb of the peak linkage signal in the pedigrees; rs12523547 and rs267015 (P = 0.00004 and 0.00016, respectively) in the CO sample and rs244960 in the CVCR sample and the combined sample, with P = 0.00032 and 0.00016, respectively. It remains unclear whether these association results reflect the same locus contributing to BP susceptibility within the extended pedigrees. PMID:19319892

  15. Pedigree-based estimation of covariance between dominance deviations and additive genetic effects in closed rabbit lines considering inbreeding and using a computationally simpler equivalent model. (United States)

    Fernández, E N; Legarra, A; Martínez, R; Sánchez, J P; Baselga, M


    Inbreeding generates covariances between additive and dominance effects (breeding values and dominance deviations). In this work, we developed and applied models for estimation of dominance and additive genetic variances and their covariance, a model that we call "full dominance," from pedigree and phenotypic data. Estimates with this model such as presented here are very scarce both in livestock and in wild genetics. First, we estimated pedigree-based condensed probabilities of identity using recursion. Second, we developed an equivalent linear model in which variance components can be estimated using closed-form algorithms such as REML or Gibbs sampling and existing software. Third, we present a new method to refer the estimated variance components to meaningful parameters in a particular population, i.e., final partially inbred generations as opposed to outbred base populations. We applied these developments to three closed rabbit lines (A, V and H) selected for number of weaned at the Polytechnic University of Valencia. Pedigree and phenotypes are complete and span 43, 39 and 14 generations, respectively. Estimates of broad-sense heritability are 0.07, 0.07 and 0.05 at the base versus 0.07, 0.07 and 0.09 in the final generations. Narrow-sense heritability estimates are 0.06, 0.06 and 0.02 at the base versus 0.04, 0.04 and 0.01 at the final generations. There is also a reduction in the genotypic variance due to the negative additive-dominance correlation. Thus, the contribution of dominance variation is fairly large and increases with inbreeding and (over)compensates for the loss in additive variation. In addition, estimates of the additive-dominance correlation are -0.37, -0.31 and 0.00, in agreement with the few published estimates and theoretical considerations. © 2017 Blackwell Verlag GmbH.

  16. Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder. (United States)

    Sundaram, Senthil K; Huq, Ahm M; Sun, Zhen; Yu, Wu; Bennett, Lindsey; Wilson, Benjamin J; Behen, Michael E; Chugani, Harry T


    Ten members of a 3-generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS-CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OFCC1 genes that segregated with chronic tic phenotype. These variants were not present in 100 control subjects or in dbSNP/1000 Genomes databases. A novel variant in the 5' untranslated region of the OFCC1 gene was found in 2 TS-CTD patients from a different pedigree. Further studies will clarify the importance of variants in MRPL3, DNAJC13, and OFCC1 genes in TS. Copyright © 2011 American Neurological Association.

  17. Genetic drift. Descent, lineage, and pedigree of the Trojans in Homer's Iliad. (United States)

    Bazopoulou-Kyrkanidou, Euterpe


    Homer's Iliad, is an epic poem that describes the last 70 days of the Trojan War, which was waged against the city of Troy by the Achaeans. Here, the descent, lineage, and the pedigree of the Trojans are presented. In the Illiad, they are said to have originated from Zeus. Beginning with him, the Trojan pedigree comprised 17 men in 8 generations with Dardanus, founder of Dardania in the second generation; Tros, King of the Trojans in the fourth generation; and the two heroes Hector and Aeneas in the eighth generation. In the seventh generation, Priam, as King of the Trojans, had a huge family, including 50 sons: 19 children with his wife Hecabe, other sons with many different wives, and some daughters as well. Hector, the first born, became leader of the Trojans. Hector's brother, Paris, in abducting Helen of Sparta, the wife of King Menelaus, caused the Trojan War to break out. (c) 2007 Wiley-Liss, Inc.

  18. Inbreeding trends and pedigree analysis of Bavarian mountain hounds, Hanoverian hounds and Tyrolean hounds. (United States)

    Voges, S; Distl, O


    The objective of this study was to analyse genetic diversity for the three scent-hound breeds Bavarian mountain hound (BMH), Hanoverian hound (HH) and Tyrolean hound (TH) using all available pedigree information from scent-hound kennel clubs for these three breeds throughout Europe. The pedigree data of the BMH and the HH date back to 1912 and 1894, respectively. Pedigree data of the TH were available from the 1960s onwards. The reference populations included all BMH (n = 3231), HH (n = 1371) and TH (n = 1167) dogs registered between 1992 and 2004. Average generation intervals were 5.3 years for the BMH and 5.0 years for the HH and TH. Average inbreeding coefficients for the reference populations were 4.5%, 6.8% and 9.5% for the BMH, HH and TH. The effective numbers of founders, ancestors and founder genomes were lowest for the TH and highest for the BMH. The effective numbers of founder genomes were 10.9, 5.6 and 4.3 for the BMH, HH and TH. Effective population size was largest for the BMH with 72.7 effective breeding animals, followed by the HH with 50.9 and TH with 26.5. The most important ten ancestors had genetic contributions to the reference populations of 54.4%, 65.2% and 77.9% in the BMH, HH and TH. The results of our study indicate the need for careful breed management in these highly specialized hound breeds to maintain genetic diversity. European stud books should be established for these dog breeds in order to avoid inbreeding due to missing pedigree records.

  19. Does perfectionism in bipolar disorder pedigrees mediate associations between anxiety/stress and mood symptoms?


    Corry, Justine; Green, Melissa; Roberts, Gloria; Fullerton, Janice M.; Schofield, Peter R.; Mitchell, Philip B.


    Background Bipolar disorder (BD) and the anxiety disorders are highly comorbid. The present study sought to examine perfectionism and goal attainment values as potential mechanisms of known associations between anxiety, stress and BD symptomatology. Measures of perfectionism and goal attainment values were administered to 269 members of BD pedigrees, alongside measures of anxiety and stress, and BD mood symptoms. Regression analyses were used to determine whether perfectionism and goal attain...

  20. KinLinks: Software Toolkit for Kinship Analysis and Pedigree Generation from NGS Datasets (United States)


    combined into multi-generation 2 pedigrees via a set of heuristics to resolve relationship type (half siblings vs avuncular vs grandparent...this metric is able to differentiate parent- child relationships from siblings . • Kinship Coefficient as calculated by the KING algorithm [22]. The...second classifier predicts the exact relationship among a pair of samples (i.e. parent/ child , sibling , grandparent, avuncular, cousin, unrelated). Both

  1. A powerful parent-of-origin effects test for qualitative traits on X chromosome in general pedigrees. (United States)

    Zou, Qi-Lei; You, Xiao-Ping; Li, Jian-Long; Fung, Wing Kam; Zhou, Ji-Yuan


    Genomic imprinting is one of the well-known epigenetic factors causing the association between traits and genes, and has generally been examined by detecting parent-of-origin effects of alleles. A lot of methods have been proposed to test for parent-of-origin effects on autosomes based on nuclear families and general pedigrees. Although these parent-of-origin effects tests on autosomes have been available for more than 15 years, there has been no statistical test developed to test for parent-of-origin effects on X chromosome, until the parental-asymmetry test on X chromosome (XPAT) and its extensions were recently proposed. However, these methods on X chromosome are only applicable to nuclear families and thus are not suitable for general pedigrees. In this article, we propose the pedigree parental-asymmetry test on X chromosome (XPPAT) statistic to test for parent-of-origin effects in the presence of association, which can accommodate general pedigrees. When there are missing genotypes in some pedigrees, we further develop the Monte Carlo pedigree parental-asymmetry test on X chromosome (XMCPPAT) to test for parent-of-origin effects, by inferring the missing genotypes given the observed genotypes based on a Monte Carlo estimation. An extensive simulation study has been carried out to investigate the type I error rates and the powers of the proposed tests. Our simulation results show that the proposed methods control the size well under the null hypothesis of no parent-of-origin effects. Moreover, XMCPPAT substantially outperforms the existing tests and has a much higher power than XPPAT which only uses complete nuclear families (with both parents) from pedigrees. We also apply the proposed methods to analyze rheumatoid arthritis data for their practical use. The proposed XPPAT and XMCPPAT test statistics are valid and powerful in detecting parent-of-origin effects on X chromosome for qualitative traits based on general pedigrees and thus are recommended.

  2. [Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China]. (United States)


    Hereditary colorectal cancer can be divded into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis, which includes familial adenomatous polyposis (FAP); The second category is nonpolyposis colorectal cancer, which is represented by Lynch syndrome. "Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China" developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary colorectal cancer. The consensus aims to provide recommendations on management of the respective hereditary syndromes in terms of definition, clinical and pathological features, diagnostic standards, treatment, and follow-ups. In addition to describing diagnostic and treatment strategies, prophylactic treatment as well as genetic screening and pedigree monitoring is highly recommended. Through the establishment of this expert consensus, we hope to promote better understanding of hereditary colorectal cancer for clinicians and encourage standardized treatment through multidisciplinery approaches, eventually improving clinical treatment and pedigree management of hereditary colorectal cancer in China.

  3. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. (United States)

    St George-Hyslop, P; Rogaeva, E; Huterer, J; Tsuda, T; Santos, J; Haines, J L; Schlumpf, K; Rogaev, E I; Liang, Y; McLachlan, D R


    A locus for Machado-Joseph disease (MJD) has recently been mapped to a 30-cM region of chromosome 14q in five pedigrees of Japanese descent. MJD is a clinically pleomorphic neurodegenerative disease that was originally described in subjects of Azorean descent. In light of the nonallelic heterogeneity in other inherited spinocerebellar ataxias, we were interested to determine if the MJD phenotype in Japanese and Azorean pedigrees arose from mutations at the same locus. We provide evidence that MJD in five pedigrees of Azorean descent is also linked to chromosome 14q in an 18-cM region between the markers D14S67 and AACT (multipoint lod score +7.00 near D14S81). We also report molecular evidence for homozygosity at the MJD locus in an MJD-affected subject with severe, early-onset symptoms. These observations confirm the initial report of linkage of MJD to chromosome 14; suggest that MJD in Japanese and Azorean subjects may represent allelic or identical mutations at the same locus; and provide one possible explanation (MJD gene dosage) for the observed phenotypic heterogeneity in this disease.

  4. Bound volatile precursors in genotypes in the pedigree of 'Marion' blackberry (Rubus sp.). (United States)

    Du, Xiaofen; Finn, Chad E; Qian, Michael C


    Glycosidically bound volatiles and precursors in genotypes representing the pedigree for 'Marion' blackberry were investigated over two growing seasons. The volatile precursors were isolated using a C18 solid-phase extraction column. After enzymatic hydrolysis, the released volatiles were analyzed using stir bar sorptive extraction gas chromatography-mass spectrometry (GC-MS) and direct microvial insert thermal desorption GC-MS. The most abundant volatile precursors in the genotypes were alcohols, followed by shikimic acid derivatives. High amounts of furanone glycosides were also detected, while norisoprenoids only existed in a small amount in blackberries. The volatile precursor composition in the genotypes in the 'Marion' pedigree was very similar to their free volatile distribution. 'Logan' and 'Olallie' predominantly had bound norisoprenoids. Wild 'Himalaya' predominated with terpene alcohol and furaneol glycosides, whereas 'Santiam' and 'Chehalem' contained a high level of terpene alcohol glycosides. A similar inheritance pattern was also observed for some volatile precursors in the genotypes in the 'Marion' pedigree. A high content of linalool, hydroxylinalool, and alpha-ionol glycosides in 'Olallie' and a low content in 'Chehalem' resulted in a moderate level in their offspring 'Marion', while a low content of (E)-linalool oxide precursor in 'Olallie' and a high content in 'Chehalem' also resulted in a moderate level in 'Marion'. However, the concentration of furaneol glycosides in 'Marion' exceeded that of its two parents.

  5. Pedigree and genomic analyses of feed consumption and residual feed intake in laying hens. (United States)

    Wolc, Anna; Arango, Jesus; Jankowski, Tomasz; Settar, Petek; Fulton, Janet E; O'Sullivan, Neil P; Fernando, Rohan; Garrick, Dorian J; Dekkers, Jack C M


    Efficiency of production is increasingly important with the current escalation of feed costs and demands to minimize the environmental footprint. The objectives of this study were 1) to estimate heritabilities for daily feed consumption and residual feed intake and their genetic correlations with production and egg-quality traits; 2) to evaluate accuracies of estimated breeding values from pedigree- and marker-based prediction models; and 3) to localize genomic regions associated with feed efficiency in a brown egg layer line. Individual feed intake data collected over 2-wk trial periods were available for approximately 6,000 birds from 8 generations. Genetic parameters were estimated with a multitrait animal model; methods BayesB and BayesCπ were used to estimate marker effects and find genomic regions associated with feed efficiency. Using pedigree information, feed efficiency was found to be moderately heritable (h(2) = 0.46 for daily feed consumption and 0.47 for residual feed intake). Hens that consumed more feed and had greater residual feed intake (lower efficiency) had a genetic tendency to lay slightly more eggs with greater yolk weights and albumen heights. Regions on chromosomes 1, 2, 4, 7, 13, and Z were found to be associated with feed intake and efficiency. The accuracy from genomic prediction was higher and more persistent (better maintained across generations) than that from pedigree-based prediction. These results indicate that genomic selection can be used to improve feed efficiency in layers.

  6. Partitioning the variability of fasting plasma glucose levels in pedigrees. Genetic and environmental factors. (United States)

    Boehnke, M; Moll, P P; Kottke, B A; Weidman, W H


    Fasting plasma glucose measurements made in 1972-1977 on normoglycemic individuals in three-generation Caucasian pedigrees from Rochester, Minnesota were analyzed. The authors determined the contributions of polygenic loci and environmental factors to fasting plasma glucose variability in these pedigrees. To that end, fasting plasma glucose measurements were normalized by an inverse normal scores transformation and then regressed separately for males and females on measured concomitants including age, body mass index (weight/height2), season of measurement, sex hormone use, and diuretic use. The authors found that 27.7% of the variability in normalized fasting plasma glucose in these pedigrees is explained by these measured concomitants. Subsequent variance components analysis suggested that unmeasured polygenic loci and unmeasured shared environmental factors together account for at least an additional 36.7% of the variability in normalized fasting plasma glucose, with genes alone accounting for at least 27.3%. These results are consistent with the known familiality of diabetes, for which fasting plasma glucose level is an important predictor. Further, these familial factors provide an explanation for at least half the variability in normalized fasting plasma glucose which remains after regression on known concomitants.

  7. ePedigree Traceability System for the Agricultural Food Supply Chain to Ensure Consumer Health

    Directory of Open Access Journals (Sweden)

    Umar Farooq


    Full Text Available Sustainability relies on the environmental, social and economical systems: the three pillars of sustainability. The social sustainability mostly advocates the people’s welfare, health, safety, and quality of life. In the agricultural food industry, the aspects of social sustainability, such as consumer health and safety have gained substantial attention due to the frequent cases of food-borne diseases. The food-borne diseases due to the food degradation, chemical contamination and adulteration of food products pose a serious threat to the consumer’s health, safety, and quality of life. To ensure the consumer’s health and safety, it is essential to develop an efficient system which can address these critical social issues in the food distribution networks. This research proposes an ePedigree (electronic pedigree traceability system based on the integration of RFID and sensor technology for real-time monitoring of the agricultural food to prevent the distribution of hazardous and adulterated food products. The different aspects regarding implementation of the proposed system in food chains are analyzed and a feasible integrated solution is proposed. The performance of the proposed system is evaluated and finally, a comprehensive analysis of the proposed ePedigree system’s impact on the social sustainability in terms of consumer health and safety is presented.

  8. Breakdowns in coordinated decision making at and above the incident management team level: an analysis of three large scale Australian wildfires. (United States)

    Bearman, Chris; Grunwald, Jared A; Brooks, Benjamin P; Owen, Christine


    Emergency situations are by their nature difficult to manage and success in such situations is often highly dependent on effective team coordination. Breakdowns in team coordination can lead to significant disruption to an operational response. Breakdowns in coordination were explored in three large-scale bushfires in Australia: the Kilmore East fire, the Wangary fire, and the Canberra Firestorm. Data from these fires were analysed using a top-down and bottom-up qualitative analysis technique. Forty-four breakdowns in coordinated decision making were identified, which yielded 83 disconnects grouped into three main categories: operational, informational and evaluative. Disconnects were specific instances where differences in understanding existed between team members. The reasons why disconnects occurred were largely consistent across the three sets of data. In some cases multiple disconnects occurred in a temporal manner, which suggested some evidence of disconnects creating states that were conducive to the occurrence of further disconnects. In terms of resolution, evaluative disconnects were nearly always resolved however operational and informational disconnects were rarely resolved effectively. The exploratory data analysis and discussion presented here represents the first systematic research to provide information about the reasons why breakdowns occur in emergency management and presents an account of how team processes can act to disrupt coordination and the operational response. Copyright © 2014 Elsevier Ltd and The Ergonomics Society. All rights reserved.

  9. Australian uranium mining policy

    International Nuclear Information System (INIS)

    Fisk, B.


    Australian government policy is explained in terms of adherence to the Non-Proliferation Treaty. Two alleged uncertainties are discussed: the future of Australian mining industry as a whole -on which it is said that Australian uranium mines will continue to be developed; and detailed commercial policy of the Australian government - on which it is suggested that the three-mines policy of limited expansion of the industry would continue. Various aspects of policy, applying the principles of the NPT, are listed. (U.K.)

  10. Estimation of breeding values using selected pedigree records. (United States)

    Morton, Richard; Howarth, Jordan M


    Fish bred in tanks or ponds cannot be easily tagged individually. The parentage of any individual may be determined by DNA fingerprinting, but is sufficiently expensive that large numbers cannot be so finger-printed. The measurement of the objective trait can be made on a much larger sample relatively cheaply. This article deals with experimental designs for selecting individuals to be finger-printed and for the estimation of the individual and family breeding values. The general setup provides estimates for both genetic effects regarded as fixed or random and for fixed effects due to known regressors. The family effects can be well estimated when even very small numbers are finger-printed, provided that they are the individuals with the most extreme phenotypes.

  11. A pilot study investigating of the nature of point-of-sale alcohol promotions in bottle shops in a large Australian regional city. (United States)

    Jones, Sandra C; Lynch, Melissa


    The promotion of alcohol by retailers and media can contribute to a culture of excessive alcohol consumption, but the effect of non-advertising alcohol promotions has largely been neglected. This study sought to gather initial data on this important area. An observational study of alcohol point-of-sale promotions in the Wollongong CBD area, conducted in July-August 2005. We identified 17 different promotions in three categories: gift with purchase; competitions; and buy some, get some free. Given previous research demonstrating the relationship between increased alcohol consumption and both ownership of alcohol-related merchandise and reduced per unit price, it appears that point-of-sale promotions may have the potential to further increase alcohol consumption among young people. Only when the extent and impact of such promotions is demonstrated will we be in a position to effectively advocate for appropriate regulations to ensure young people are not exposed to marketing strategies that further increase their exposure to alcohol-related harms.

  12. Australian Asian Options


    Manuel Moreno; Javier F. Navas


    We study European options on the ratio of the stock price to its average and viceversa. Some of these options are traded in the Australian Stock Exchange since 1992, thus we call them Australian Asian options. For geometric averages, we obtain closed-form expressions for option prices. For arithmetic means, we use different approximations that produce very similar results.

  13. Sex-specific heritability of spontaneous lipid levels in an extended pedigree of Indian-origin rhesus macaques (Macaca mulatta.

    Directory of Open Access Journals (Sweden)

    Amanda Vinson

    Full Text Available The rhesus macaque is an important model for human atherosclerosis but genetic determinants of relevant phenotypes have not yet been investigated in this species. Because lipid levels are well-established and heritable risk factors for human atherosclerosis, our goal was to assess the heritability of lipoprotein cholesterol and triglyceride levels in a single, extended pedigree of 1,289 Indian-origin rhesus macaques. Additionally, because increasing evidence supports sex differences in the genetic architecture of lipid levels and lipid metabolism in humans and macaques, we also explored sex-specific heritability for all lipid measures investigated in this study. Using standard methods, we measured lipoprotein cholesterol and triglyceride levels from fasted plasma in a sample of 193 pedigreed rhesus macaques selected for membership in large, paternal half-sib cohorts, and maintained on a low-fat, low cholesterol chow diet. Employing a variance components approach, we found moderate heritability for total cholesterol (h²=0.257, P=0.032, LDL cholesterol (h²=0.252, P=0.030, and triglyceride levels (h²=0.197, P=0.034 in the full sample. However, stratification by sex (N=68 males, N=125 females revealed substantial sex-specific heritability for total cholesterol (0.644, P=0.004, females only, HDL cholesterol (0.843, P=0.0008, females only, VLDL cholesterol (0.482, P=0.018, males only, and triglyceride levels (0.705, P=0.001, males only that was obscured or absent when sexes were combined in the full sample. We conclude that genes contribute to spontaneous variation in circulating lipid levels in the Indian-origin rhesus macaque in a sex-specific manner, and that the rhesus macaque is likely to be a valuable model for sex-specific genetic effects on lipid risk factors for human atherosclerosis. These findings are a first-ever report of heritability for cholesterol levels in this species, and support the need for expanded analysis of these traits in

  14. Forecasting Model of Risk of Cancer in Lung Cancer Pedigree in a Case-control Study

    Directory of Open Access Journals (Sweden)

    Huan LIN


    Full Text Available Background and objective Annual lung screening using spiral computed tomography (CT, has a high sensitivity of detecting early lung cancer (LC, but its high rates of false-positive often lead to unnecessary surgery. The aim of this study is to create a forecasting model of high risk individuals to lung cancer. Methods The pathologic diagnoses of LC in Guangdong Lung Cancer Institute were consecutively chosen as the probands. All the members of the first-degree relatives of probands' and their spouses' were enrolled in this study. These pedigrees consisted of 633 probands' pedigrees and 565 spouses' pedigrees. Unless otherwise stated, analyses were performed using the SPSS 17.0 statistical software package. Results Compared with the control, a family history of carcinoma in first-degree relatives was significantly associated with LC risk (OR=1.71, P<0.001, the sub-group of either one infected individual or more than two infected individuals in first-degree relatives showed significantly statistical differences (P=0.005, P=0.002. In the forecasting model, the risk compared to that in Chinese population was from 0.38 to 63.08 folds. In the population whose risk was more than 10 times to the Chinese population, the accuracy rate of prediction was 88.1%. Conclusion A family history of carcinoma in first-degree relatives was significantly associated with increased LC risk. The more infected individuals exist in first-degree relatives, the more risk was showed. In the forecasting model, smokers especially heavy ones whose risk were more than 10 times to the Chinese population should be receive annual screening. The population are positive at least any two conditions which including male, lung disease history, occupation expose and history of cancer in first-degree relative.

  15. Inbreeding and Genetic Diversity in Three Imported Swine Breeds in China Using Pedigree Data

    Directory of Open Access Journals (Sweden)

    G. Q. Tang


    Full Text Available The accumulation of inbreeding and the loss of genetic diversity is a potential problem in the modern swine breeds in China. Therefore, the purpose of this study was to analyze the pedigrees of Chinese Duroc (CD, Landrace (CL and Yorkshire (CY swine to estimate the past and current rates of inbreeding, and to identify the main causes of genetic diversity loss. Pedigree files from CD, CL and CY containing, 4529, 16,776 and 22,600 records, respectively, were analyzed. Pedigree completeness indexes of the three breeds, accounting for one generation back, were 83.72, 93.93 and 93.59%, respectively. The estimated average annual inbreeding rates for CD, CL and CY in recent three years were 0.21, 0.19 and 0.13%, respectively. The estimated average percentage of genetic diversity loss within each breed in recent three years was about 8.92, 2.19, and 3.36%, respectively. The average relative proportion of genetic diversity loss due to unequal contributions of founders in CD, CL and CY was 69.09, 57.95 and 60.57%, and due to random genetic drift was 30.91, 42.05 and 39.43%, respectively. The estimated current effective population size for CD, CL and CY was 76, 117 and 202, respectively. Therefore, CD has been found to have lost considerable genetic diversity, demanding priority for optimizing the selection and mating to control future coancestry and inbreeding. Unequal contribution of founders was a major cause of genetic diversity loss in Chinese swine breeds and random genetic drift also showed substantial impact on the loss of diversity.

  16. Molecular Reconstruction of an Old Pedigree of Diploid and Triploid Hydrangea macrophylla Genotypes

    Directory of Open Access Journals (Sweden)

    Peter Hempel


    Full Text Available The ornamental crop species Hydrangea macrophylla exhibits diploid and triploid levels of ploidy and develops lacecap (wild type or mophead inflorescences. In order to characterize a H. macrophylla germplasm collection, we determined the inflorescence type and the 2C DNA content of 120 plants representing 43 cultivars. We identified 78 putative diploid and 39 putative triploid plants by flow cytometry. In our collection 69 out of 98 flowering plants produced lacecap inflorescences, whereas 29 plants developed mophead inflorescences. Surprisingly, 12 cultivars included diploid as well as triploid plants, while 5 cultivars contained plants with different inflorescence types. We genotyped this germplasm collection using 12 SSR markers that detected 2–7 alleles per marker, and identified 51 different alleles in this collection. We detected 62 distinct fingerprints, revealing a higher genetic variation than the number of cultivars suggested. Only one genotype per cultivar is expected due to the vegetative propagation of Hydrangea cultivars; however we identified 25 cultivars containing 2–4 different genotypes. These different genotypes explained the variation in DNA content and inflorescence type. Diploid and triploid plants with the same cultivar name were exclusively mix-ups. We therefor assume, that 36% of the tested plants were mislabeled. Based on the “Wädenswil” pedigree, which includes 31 of the tested cultivars, we predicted cultivar-specific fingerprints and identified at least 21 out of 31 cultivars by SSR marker-based reconstruction of the “Wädenswil” pedigree. Furthermore, we detected 4 putative interploid crosses between diploid and triploid plants in this pedigree. These interploid crosses resulted in diploid or/and triploid offspring, suggesting that crosses with triploids were successfully applied in breeding of H. macrophylla.

  17. Optimal Genetic Contribution Selection in Danish Holstein Depends on Pedigree Qualtiy

    DEFF Research Database (Denmark)

    Sørensen, M K; Sørensen, A C; Baumung, R


    . In the analyses earlier breeding decisions were considered by including all AI waiting- and young bulls and contract matings. Twenty potential sires, 2169 potential dams, 1421 AI-bulls and 754 contract matings plus pedigree animals were included. Results showed that the outcome was very dependent on quality...... the increase in future inbreeding. The more weight put on the average additive genetic relationship in next generation relative to genetic merit, the lower the average merit of the matings, and the lower average additive genetic relationship among the chosen matings and the present breeding animals...

  18. Familial atrophia maculosa varioliformis cutis: first case report from the Indian subcontinent with pedigree analysis. (United States)

    Goyal, Tarang; Varshney, Anupam; Bakshi, S K


    Familial atrophia maculosa varioliformis cutis is a very rare disorder with less than 28 cases being reported in the literature worldwide and remains a mystery both as far as genetics and the virtue of its pathogenesis is concerned. We present a case of mother and son, both having this disorder with presentations unique in terms of sites involved and try to draw a five generations pedigree chart for the same. We further support its inheritance pattern as autosomal dominant. Also, we propose oral isotretinoin as an effective treatment modality for the same.

  19. Familial atrophia maculosa varioliformis cutis: First case report from the Indian subcontinent with pedigree analysis

    Directory of Open Access Journals (Sweden)

    Tarang Goyal


    Full Text Available Familial atrophia maculosa varioliformis cutis is a very rare disorder with less than 28 cases being reported in the literature worldwide and remains a mystery both as far as genetics and the virtue of its pathogenesis is concerned. We present a case of mother and son, both having this disorder with presentations unique in terms of sites involved and try to draw a five generations pedigree chart for the same. We further support its inheritance pattern as autosomal dominant. Also, we propose oral isotretinoin as an effective treatment modality for the same.

  20. A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

    Directory of Open Access Journals (Sweden)

    Gecz Jozef


    Full Text Available Abstract Background A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family. Methods Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2 were sequenced to screen for segregating mutations. Results Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy. Conclusions The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2 does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.

  1. The Australian synchrotron

    International Nuclear Information System (INIS)

    Farhi, R.


    This document recalls the historical aspects of the Australian Synchrotron which will be implemented in 2007. It presents then the objectives of this program, the specifications of the ring and the light lines. (A.L.B.)

  2. Australian road rules (United States)


    *These are national-level rules. Australian Road Rules - 2009 Version, Part 18, Division 1, Rule 300 "Use of Mobile Phones" describes restrictions of mobile phone use while driving. The rule basically states that drivers cannot make or receive calls ...

  3. Washability of Australian coals

    Energy Technology Data Exchange (ETDEWEB)

    Whitmore, R L


    Australian coals tend to be young in geological age and high in ash by world standards; preparation of the coal before marketing is almost universal. On the basis of float and sink data from 39 locations in the eastern Australian coalfields, the coals are place in four categories representing increasing difficulty in their washability characteristics. These seem to be related neither to the geological age nor the geographical position of the deposit and Hunter Valley coals, for example, span all categories. The influence of crushing on the washability of Australian coals is briefly considered and from limited data it is concluded to be appreciably smaller than for British or North American coals. A strategy for the float and sink analysis of Australian coals is proposed and the influence of washability characteristics on current trends in the selection of separating processes for coking and steaming products is discussed.

  4. Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

    DEFF Research Database (Denmark)

    Druley, Todd E; Wang, Lihua; Lin, Shiow J


    from six pedigrees. OBFC1 (chromosome 10) is involved in telomere maintenance, and falls within a linkage peak recently reported from an analysis of telomere length in LLFS families. Two different algorithms for single gene associations identified three genes with an enrichment of variation......BACKGROUND: The Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-specific rare variants at longevity-associated genes could have a similar functional impact on healthy phenotypes. METHODS......: We performed custom hybridization capture sequencing to identify the functional variants in 464 candidate genes for longevity or the major diseases of aging in 615 pedigrees (4,953 individuals) from the LLFS, using a multiplexed, custom hybridization capture. Variants were analyzed individually...

  5. Australianness as fairness

    DEFF Research Database (Denmark)

    Plage, Stefanie; Willing, Indigo; Skrbis, Zlatko


    This article provides an account of interwoven and often competing repertoires of cosmopolitanism and nationalism on which Australians draw when encountering diversity. Using interview and focus group data the article first explores how the notion of Australianness grounded in civic virtues such ......-go’ principle at times conceptually overlaps with cosmopolitan ethics. However, it also bears the potential to hinder cosmopolitan practices. Ultimately national and cosmopolitan ethical frameworks have to be interrogated simultaneously when applied to micro-level interactions....

  6. Australian Aboriginal Astronomy: Overview


    Norris, Ray P.; Hamacher, Duane W.


    The traditional cultures of Aboriginal Australians include a significant astronomical component, perpetuated through oral tradition, ceremony, and art. This astronomical component includes a deep understanding of the motion of objects in the sky, and this knowledge was used for practical purposes, such as constructing calendars. There is also evidence that traditional Aboriginal Australians made careful records and measurements of cyclical phenomena, paid careful attention to unexpected pheno...

  7. [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2]. (United States)

    Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan


    To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

  8. Efficient Maximum Likelihood Estimation for Pedigree Data with the Sum-Product Algorithm. (United States)

    Engelhardt, Alexander; Rieger, Anna; Tresch, Achim; Mansmann, Ulrich


    We analyze data sets consisting of pedigrees with age at onset of colorectal cancer (CRC) as phenotype. The occurrence of familial clusters of CRC suggests the existence of a latent, inheritable risk factor. We aimed to compute the probability of a family possessing this risk factor as well as the hazard rate increase for these risk factor carriers. Due to the inheritability of this risk factor, the estimation necessitates a costly marginalization of the likelihood. We propose an improved EM algorithm by applying factor graphs and the sum-product algorithm in the E-step. This reduces the computational complexity from exponential to linear in the number of family members. Our algorithm is as precise as a direct likelihood maximization in a simulation study and a real family study on CRC risk. For 250 simulated families of size 19 and 21, the runtime of our algorithm is faster by a factor of 4 and 29, respectively. On the largest family (23 members) in the real data, our algorithm is 6 times faster. We introduce a flexible and runtime-efficient tool for statistical inference in biomedical event data with latent variables that opens the door for advanced analyses of pedigree data. © 2017 S. Karger AG, Basel.

  9. Prediction of genetic values of quantitative traits in plant breeding using pedigree and molecular markers. (United States)

    Crossa, José; Campos, Gustavo de Los; Pérez, Paulino; Gianola, Daniel; Burgueño, Juan; Araus, José Luis; Makumbi, Dan; Singh, Ravi P; Dreisigacker, Susanne; Yan, Jianbing; Arief, Vivi; Banziger, Marianne; Braun, Hans-Joachim


    The availability of dense molecular markers has made possible the use of genomic selection (GS) for plant breeding. However, the evaluation of models for GS in real plant populations is very limited. This article evaluates the performance of parametric and semiparametric models for GS using wheat (Triticum aestivum L.) and maize (Zea mays) data in which different traits were measured in several environmental conditions. The findings, based on extensive cross-validations, indicate that models including marker information had higher predictive ability than pedigree-based models. In the wheat data set, and relative to a pedigree model, gains in predictive ability due to inclusion of markers ranged from 7.7 to 35.7%. Correlation between observed and predictive values in the maize data set achieved values up to 0.79. Estimates of marker effects were different across environmental conditions, indicating that genotype × environment interaction is an important component of genetic variability. These results indicate that GS in plant breeding can be an effective strategy for selecting among lines whose phenotypes have yet to be observed.

  10. Pedigree analysis on the population of Gir cattle in Northeast Brazil

    Directory of Open Access Journals (Sweden)

    Aracele Prates de Oliveira


    Full Text Available The objective of this study was to characterize the population genetic structure of the Gir breed in the Northeast of Brazil. The data used in this study were taken from pedigree information of 8,897 Gir animals between 1957 and 2007, obtained from the Brazilian Zebu Breeders Association (ABCZ. The program ENDOG was used to estimate the parameters based on the probability gene origin. From the amount of the studied animals, 67.22%, 18.41% and 3.15% had complete pedigree only on the first, second and third parentage, respectively. The number of ancestors that contributed for the reference population was 2,755, of which only 171 explain the 50% genetic variability of the population. The actual number of founder herds was 168 and the effective number of founder herds was 22.3. The number of sire supplier herds was 22.16, 8.66 and 5.36 for fathers, grandfathers and great-grandfathers, respectively. The average coefficient of relatedness was estimated at 0.22%; the highest individual coefficient was 1.49%. The little variability of the current population is a result of the small number of effective founders and ancestors indicating the population evolved from a narrow genetic base.

  11. Fine definition of the pedigree haplotypes of closely related rice cultivars by means of genome-wide discovery of single-nucleotide polymorphisms. (United States)

    Yamamoto, Toshio; Nagasaki, Hideki; Yonemaru, Jun-ichi; Ebana, Kaworu; Nakajima, Maiko; Shibaya, Taeko; Yano, Masahiro


    To create useful gene combinations in crop breeding, it is necessary to clarify the dynamics of the genome composition created by breeding practices. A large quantity of single-nucleotide polymorphism (SNP) data is required to permit discrimination of chromosome segments among modern cultivars, which are genetically related. Here, we used a high-throughput sequencer to conduct whole-genome sequencing of an elite Japanese rice cultivar, Koshihikari, which is closely related to Nipponbare, whose genome sequencing has been completed. Then we designed a high-throughput typing array based on the SNP information by comparison of the two sequences. Finally, we applied this array to analyze historical representative rice cultivars to understand the dynamics of their genome composition. The total 5.89-Gb sequence for Koshihikari, equivalent to 15.7 x the entire rice genome, was mapped using the Pseudomolecules 4.0 database for Nipponbare. The resultant Koshihikari genome sequence corresponded to 80.1% of the Nipponbare sequence and led to the identification of 67,051 SNPs. A high-throughput typing array consisting of 1917 SNP sites distributed throughout the genome was designed to genotype 151 representative Japanese cultivars that have been grown during the past 150 years. We could identify the ancestral origin of the pedigree haplotypes in 60.9% of the Koshihikari genome and 18 consensus haplotype blocks which are inherited from traditional landraces to current improved varieties. Moreover, it was predicted that modern breeding practices have generally decreased genetic diversity Detection of genome-wide SNPs by both high-throughput sequencer and typing array made it possible to evaluate genomic composition of genetically related rice varieties. With the aid of their pedigree information, we clarified the dynamics of chromosome recombination during the historical rice breeding process. We also found several genomic regions decreasing genetic diversity which might be

  12. Australian minerals industry 1985-6

    Energy Technology Data Exchange (ETDEWEB)


    The performance of the Australian mineral industry in 1985-86 was again adversely affected by low commodity prices and tight market conditions. This is shown in a survey conducted by chartered accountants Coopers and Lybrand and published by the Australian Mining Industry Council (AMIC). In a preface to the report, the president of AMIC (Sir Bruce Watson) said: In just 10 years the minerals industry has emerged as Australia's major exporter, accounting for over 40% of total Australian exports of goods. This preeminent ranking has depended on a significant investment effort, and in the creation of a very large asset base. Financing this investment, and achieving the cash flow necessary to service it, are enormous tasks.

  13. Australian coal - on top down under

    Energy Technology Data Exchange (ETDEWEB)


    Australian coal exports have risen to record levels of 102mt in 1987. Whilst the industry is characterised by impressive export tonnages and high quality product, these assets do not always indicate real returns for the coal exporter when faced with today's competitive international market. The Australian coal industry has initiated large scale cost reduction and rationalisation programmes to offset losses in revenue, accompanied by the construction of sophisticated, efficient loading facilities. The article examines some of the reasons behind continued success by exporters in the international market, before going on to consider the longer term outlook for the Australian ndustry as a whole. A historical perspective is described, tracing the development of the coal industry from early exploratory development to the highly-tuned industry of today. 2 tabs., 12 figs.

  14. [Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia]. (United States)

    Zeng, Li-ping; Hu, Zheng-mao; Mu, Li-li; Mei, Gui-sen; Lu, Xiu-ling; Zheng, Yong-jun; Li, Pei-jian; Zhang, Ying-xue; Pan, Qian; Long, Zhi-gao; Dai, He-ping; Zhang, Zhuo-hua; Xia, Jia-hui; Zhao, Jing-ping; Xia, Kun


    To investigate the relationship of susceptibility loci in chromosomes 1q21-25 and 6p21-25 and schizophrenia subtypes in Chinese population. A genomic scan and parametric and non-parametric analyses were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-IV-TR; American Psychiatric Association, 2000). All subjects signed informed consent. In chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α = 0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P= 0.0367) at D1S484. The single point NPL score was 1.95(P= 0.0145) and the multi-point NPL score was 2.39 (P= 0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P= 0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive

  15. Homologous series of induced early mutants in Indica rice. Pt.3: The relationship between the induction of homologous series of early mutants and its different pedigree

    International Nuclear Information System (INIS)

    Chen Xiulan; Yang Hefeng; He Zhentian; Han Yuepeng; Liu Xueyu


    The percentage of homologous series of early mutants (PHSEM) induced by irradiation was closely related to its pedigree. This study showed that PHSEM for varieties with the same pedigree were similar, and there were three different level of dominance (high, low and normal) in the homologous series induced from different pedigree. The PHSEM for varieties derived form distant-relative-parents were higher than that derived from close-relative-parents. There was the dominance pedigree for the induction of homologous series of early mutants. IR8(Peta x DGWG), IR127 (Cpslo x Sigadis) and IR24 (IR8 x IR127) were dominant pedigree, and varieties derived from them could be easily induced the homologous series of early mutants

  16. Learner discipline: An Australian perspective

    Directory of Open Access Journals (Sweden)

    D. Stewart


    Full Text Available Australian schools by and large are safe schools. Nonetheless discipline problems do exist – including bullying behaviour. For this kind of problem schools should have management policies in place. As traditional behaviour-management practices – including corporal punishment – are largely prohibited in Australian schools, contemporary practices centre on management through supportive school programmes, including appropriate curricula and school-support structures. This article supports the belief that measures such as the exclusion of misbehaving learners should be treated with caution. Measures such as this might not reflect accepted international principles and practices and should only be exercised in the most extreme circumstances. The article also supports the view that it is part of the school’s role to ensure that all learners are aware of the reality that while they have rights, they also have corresponding responsibilities. This awareness is more likely to be achieved in a supportive school culture where each learner is recognised as having unique qualities that can mature and grow in an appropriate learning environment.

  17. Genomic and pedigree-based prediction for leaf, stem, and stripe rust resistance in wheat. (United States)

    Juliana, Philomin; Singh, Ravi P; Singh, Pawan K; Crossa, Jose; Huerta-Espino, Julio; Lan, Caixia; Bhavani, Sridhar; Rutkoski, Jessica E; Poland, Jesse A; Bergstrom, Gary C; Sorrells, Mark E


    Genomic prediction for seedling and adult plant resistance to wheat rusts was compared to prediction using few markers as fixed effects in a least-squares approach and pedigree-based prediction. The unceasing plant-pathogen arms race and ephemeral nature of some rust resistance genes have been challenging for wheat (Triticum aestivum L.) breeding programs and farmers. Hence, it is important to devise strategies for effective evaluation and exploitation of quantitative rust resistance. One promising approach that could accelerate gain from selection for rust resistance is 'genomic selection' which utilizes dense genome-wide markers to estimate the breeding values (BVs) for quantitative traits. Our objective was to compare three genomic prediction models including genomic best linear unbiased prediction (GBLUP), GBLUP A that was GBLUP with selected loci as fixed effects and reproducing kernel Hilbert spaces-markers (RKHS-M) with least-squares (LS) approach, RKHS-pedigree (RKHS-P), and RKHS markers and pedigree (RKHS-MP) to determine the BVs for seedling and/or adult plant resistance (APR) to leaf rust (LR), stem rust (SR), and stripe rust (YR). The 333 lines in the 45th IBWSN and the 313 lines in the 46th IBWSN were genotyped using genotyping-by-sequencing and phenotyped in replicated trials. The mean prediction accuracies ranged from 0.31-0.74 for LR seedling, 0.12-0.56 for LR APR, 0.31-0.65 for SR APR, 0.70-0.78 for YR seedling, and 0.34-0.71 for YR APR. For most datasets, the RKHS-MP model gave the highest accuracies, while LS gave the lowest. GBLUP, GBLUP A, RKHS-M, and RKHS-P models gave similar accuracies. Using genome-wide marker-based models resulted in an average of 42% increase in accuracy over LS. We conclude that GS is a promising approach for improvement of quantitative rust resistance and can be implemented in the breeding pipeline.

  18. Recovery of native genetic background in admixed populations using haplotypes, phenotypes, and pedigree information--using Cika cattle as a case breed.

    Directory of Open Access Journals (Sweden)

    Mojca Simčič

    Full Text Available The aim of this study was to obtain unbiased estimates of the diversity parameters, the population history, and the degree of admixture in Cika cattle which represents the local admixed breeds at risk of extinction undergoing challenging conservation programs. Genetic analyses were performed on the genome-wide Single Nucleotide Polymorphism (SNP Illumina Bovine SNP50 array data of 76 Cika animals and 531 animals from 14 reference populations. To obtain unbiased estimates we used short haplotypes spanning four markers instead of single SNPs to avoid an ascertainment bias of the BovineSNP50 array. Genome-wide haplotypes combined with partial pedigree and type trait classification show the potential to improve identification of purebred animals with a low degree of admixture. Phylogenetic analyses demonstrated unique genetic identity of Cika animals. Genetic distance matrix presented by rooted Neighbour-Net suggested long and broad phylogenetic connection between Cika and Pinzgauer. Unsupervised clustering performed by the admixture analysis and two-dimensional presentation of the genetic distances between individuals also suggest Cika is a distinct breed despite being similar in appearance to Pinzgauer. Animals identified as the most purebred could be used as a nucleus for a recovery of the native genetic background in the current admixed population. The results show that local well-adapted strains, which have never been intensively managed and differentiated into specific breeds, exhibit large haplotype diversity. They suggest a conservation and recovery approach that does not rely exclusively on the search for the original native genetic background but rather on the identification and removal of common introgressed haplotypes would be more powerful. Successful implementation of such an approach should be based on combining phenotype, pedigree, and genome-wide haplotype data of the breed of interest and a spectrum of reference breeds which

  19. A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data. (United States)

    Heinrich, Verena; Kamphans, Tom; Mundlos, Stefan; Robinson, Peter N; Krawitz, Peter M


    Next generation sequencing technology considerably changed the way we screen for pathogenic mutations in rare Mendelian disorders. However, the identification of the disease-causing mutation amongst thousands of variants of partly unknown relevance is still challenging and efficient techniques that reduce the genomic search space play a decisive role. Often segregation- or linkage analysis are used to prioritize candidates, however, these approaches require correct information about the degree of relationship among the sequenced samples. For quality assurance an automated control of pedigree structures and sample assignment is therefore highly desirable in order to detect label mix-ups that might otherwise corrupt downstream analysis. We developed an algorithm based on likelihood ratios that discriminates between different classes of relationship for an arbitrary number of genotyped samples. By identifying the most likely class we are able to reconstruct entire pedigrees iteratively, even for highly consanguineous families. We tested our approach on exome data of different sequencing studies and achieved high precision for all pedigree predictions. By analyzing the precision for varying degrees of relatedness or inbreeding we could show that a prediction is robust down to magnitudes of a few hundred loci. A java standalone application that computes the relationships between multiple samples as well as a Rscript that visualizes the pedigree information is available for download as well as a web service at CONTACT: heinrich@molgen.mpg.deSupplementary information: Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press.

  20. Compatibility of pedigree-based and marker-based relationship matrices for single-step genetic evaluation

    DEFF Research Database (Denmark)

    Christensen, Ole Fredslund


    Single-step methods for genomic prediction have recently become popular because they are conceptually simple and in practice such a method can completely replace a pedigree-based method for routine genetic evaluation. An issue with single-step methods is compatibility between the marker-based rel...

  1. Improving uncertainty evaluation of process models by using pedigree analysis. A case study on CO2 capture with monoethanolamine

    NARCIS (Netherlands)

    van der Spek, Mijndert; Ramirez, Andrea; Faaij, André


    This article aims to improve uncertainty evaluation of process models by combining a quantitative uncertainty evaluation method (data validation) with a qualitative uncertainty evaluation method (pedigree analysis). The approach is tested on a case study of monoethanolamine based postcombustion CO2

  2. [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome]. (United States)

    Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhu, Ganghua; Hu, Peng; Wu, Weijing


    To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling. Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations. A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2. The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.

  3. Rooster semen cryopreservation: effect of pedigree line and male age on postthaw sperm function. (United States)

    Long, J A; Bongalhardo, D C; Pelaéz, J; Saxena, S; Settar, P; O'Sullivan, N P; Fulton, J E


    The fertility rates of cryopreserved poultry semen are highly variable and not reliable for use in preservation of commercial genetic stocks. Our objective was to evaluate the cryosurvival of semen from 8 pedigreed layer lines at 2 different ages: the onset and end of commercial production. Semen from 160 roosters (20/line) was frozen individually with 11% glycerol at 6 and 12 mo of age. Glycerol was removed from thawed semen by Accudenz gradient centrifugation. The viability of thawed sperm from each male was determined using fluorescent live-dead staining and flow cytometry; sperm velocity parameters were measured using computerized motion analysis. The fertilizing ability of thawed sperm was evaluated in vitro by assessing hydrolysis of the inner perivitelline membrane. The postthaw function of sperm from the elite lines varied widely, despite the fact that fresh semen from all of these lines typically yielded high fertility rates. The percentage of thawed sperm with intact plasma membranes ranged from 27.8 + or - 2.1 to 49.6 + or - 1.9 and varied among lines and between age groups. Thawed sperm from 2 lines consistently demonstrated the highest and lowest motility parameters, whereas the velocity parameters of the remaining 6 lines varied widely. The mean number of hydrolysis points per square millimeter of inner perivitelline membrane ranged from 12.5 + or - 4.1 (line 2) to 103.3 + or - 30.2 (line 6). Age effects were observed for 4 out of 8 lines; however, improved postthaw sperm function at 12 mo of age was not consistent for all 3 assays. These results demonstrate variability among pedigreed lines in withstanding glycerol-based semen cryopreservation and provide a model for delineating genotypic and phenotypic factors affecting sperm cryosurvival.

  4. Australian national proton facility

    International Nuclear Information System (INIS)

    Jackson, M.


    Full text: Proton therapy has been in use since 1954 and over 25,000 patients have been treated worldwide. Until recently most patients were treated at physics research facilities and apart from the Harvard Cyclotron Laboratory and some low energy machines for eye treatment, only small numbers of patients were treated in each centre and conditions were less than optimal. Limited beam time and lack of support facilities restricted the type of patient treated and conventional fractionation could not be used. The initial clinical experience was mainly with small tumours and other lesions close to critical organs. Large numbers of eye tumours have also been treated. Protons have a well-defined role in these situations and are now being used in the treatment of more common cancers. Since the development of hospital-based facilities, such as the one in Loma Linda in California, over 2,500 patients with prostate cancer have been treated using a simple technique which gives results at least as good as radical surgery, external beam radiotherapy or brachytherapy. Importantly, the incidence of severe complications is very low. There are encouraging results in many disease sites including lung, liver, soft tissue sarcomas and oesophagus. As proton therapy becomes more widely available, randomised trials comparing it with conventional radiotherapy or intensity modulated radiotherapy (IMRT) will be possible. In most situations the use of protons will enable a higher dose to be given safely but in situations where local control rates are already satisfactory, protons are expected to produce less complications than conventional treatment. The initial costs of a proton facility are high but the recurrent costs are similar to other forms of high technology radiotherapy. Simple treatment techniques with only a few fields are usually possible and proton therapy avoids the high integral doses associated with IMRT. This reduction in the low dose volume is likely to be particularly

  5. Potential for Australian involvement in ITER

    International Nuclear Information System (INIS)

    O'Connor, D. J.; Collins, G. A.; Hole, M. J.


    Full text: Full text: Fusion, the process that powers the sun and stars, offers a solution to the world's long-term energy needs: providing large scale energy production with zero greenhouse gas emissions, short-lived radio-active waste compared to conventional nuclear fission cycles, and a virtually limitless supply of fuel. Almost three decades of fusion research has produced spectacular progress. Present-day experiments have a power gain ratio of approximately 1 (ratio of power out to power in), with a power output in the 10's of megawatts. The world's next major fusion experiment, the International Thermonuclear Experimental Reactor (ITER), will be a pre-prototype power plant. Since announcement of the ITER site in June 2005, the ITER project, has gained momentum and political support. Despite Australia's foundation role in the field of fusion science, through the pioneering work of Sir Mark Oliphant, and significant contributions to the international fusion program over the succeeding years, Australia is not involved in the ITER project. In this talk, the activities of a recently formed consortium of scientists and engineers, the Australian ITER Forum will be outlined. The Forum is drawn from five Universities, ANSTO (the Australian Nuclear Science and Technology Organisation) and AINSE (the Australian Institute for Nuclear Science and Engineering), and seeks to promote fusion energy in the Australian community and negotiate a role for Australia in the ITER project. As part of this activity, the Australian government recently funded a workshop that discussed the ways and means of engaging Australia in ITER. The workshop brought the research, industrial, government and general public communities, together with the ITER partners, and forged an opportunity for ITER engagement; with scientific, industrial, and energy security rewards for Australia. We will report on the emerging scope for Australian involvement

  6. Australian Hackers and Ethics


    M.J. Warren; W. Hutchinson


    The aim of the paper is to look at the way hackers act and ways in which society can protect itself. The paper will show the current views and attitudes of hackers in an Australian context. The paper will also include a case study to show how a hacking incident can develop and how technology can be used to protect against hacking.

  7. Australian uranium industry

    Energy Technology Data Exchange (ETDEWEB)

    Warner, R K


    Various aspects of the Australian uranium industry are discussed including the prospecting, exploration and mining of uranium ores, world supply and demand, the price of uranium and the nuclear fuel cycle. The market for uranium and the future development of the industry are described.

  8. Australian uranium today

    International Nuclear Information System (INIS)

    Fisk, B.


    The subject is covered in sections, entitled: Australia's resources; Northern Territory uranium in perspective; the government's decision [on August 25, 1977, that there should be further development of uranium under strictly controlled conditions]; Government legislation; outlook [for the Australian uranium mining industry]. (U.K.)

  9. Australian Film Studies. (United States)

    Breen, Myles P.

    Although Australia had a vigorous film industry in the silent film era, it was stifled in the 1930s when United States and British interests bought up the Australian distribution channels and closed down the indigenous industry. However, the industry and film study have undergone a renaissance since the advent of the Labor government in 1972,…

  10. The Australian stock market development: Prospects and challenges


    Sheilla Nyasha; Nicholas M. Odhiambo


    This paper highlights the origin and development of the Australian stock market. The country has three major stock exchanges, namely: the Australian Securities Exchange Group, the National Stock Exchange of Australia, and the Asia-Pacific Stock Exchange. These stock exchanges were born out of a string of stock exchanges that merged over time. Stock-market reforms have been implemented since the period of deregulation, during the 1980s; and the Exchanges responded largely positively to these r...

  11. Determination of maternal pedigree and ewe-lamb spatial relationships by application of Bluetooth technology in extensive farming systems. (United States)

    Sohi, R; Trompf, J; Marriott, H; Bervan, A; Godoy, B I; Weerasinghe, M; Desai, A; Jois, M


    The objectives of this study were to validate the application of Bluetooth technology to determine maternal pedigree and to determine ewe-lamb spatial relationships in extensive farming systems. A total of 35 first-cross Merino ewes (Merino × Border Leicester and East Friesian) and 23 of their lambs aged 1 to 3 wk were fitted with activity monitors equipped with Bluetooth (BT) technology (ActiGraph wGT3X-BT) by means of halters and collars, respectively. The BT devices on lambs were programmed to receive wireless signals once every minute from nearby BT units on ewes, which were programmed as beacons sending BT signals 4 times every second. Ewes and lambs fitted with sensors were dispatched into the paddocks, and after 10 d, the sensor units were retrieved and the BT signals received by lambs were downloaded using the ActiGraph software. The maternal pedigree of the lambs was determined as the ewe from which the lamb received the most BT signals. The distance between the lamb receiving the signal and the ewe sending the signal was estimated from the strength of BT signal received. The pedigree determined by BT was compared with the pedigree determined by DNA profiling and verification. The results showed that the accuracy of maternal pedigree determined by BT signals reached 100% within the first 15 min of returning animals to pasture of ewes and lambs fitted with sensors. Maternal signals (counts/d) received by 1-, 2-, and 3-wk-old lambs were 617 ± 102, 603 ± 54, and 498 ± 36, respectively, and the corresponding nonmaternal signals received were 140 ± 27, 106 ± 30, and 155 ± 39, respectively. Maternal signals received during the dark period were significantly higher than the maternal signals received during the light period ( wireless networking is a fast and reliable method for the determination of maternal pedigree of lambs in extensive farming systems. In addition, wireless BT technology is also useful in determining mother-offspring spatial

  12. Japanese wives in Japanese-Australian intermarriages

    Directory of Open Access Journals (Sweden)

    Jared Denman


    Full Text Available The diasporic experiences of Japanese partners married to Australians and living in Australia are largely unexamined. This article is based on a study, conducted for an honours thesis, which invited four Japanese wives living in South East Queensland to describe, together with their Australian husbands, their family’s interactions with Japan, its language and culture, and the local Japanese community. It was recognised that the extensive social networks these wives had established and maintained with local Japanese women from other Japanese-Australian intermarriage families were an important part of their migrant experience. This article will firstly review the literature on contemporary Japanese- Australian intermarriage in Australia and Japanese lifestyle migration to Australia. It will then describe and examine the involvement and motivations of the four wives in their social networks. Entry into motherhood was found to be the impetus for developing and participating in informal, autonomous networks. Additionally, regular visits to Japan were focused on engagement with existing family and friendship networks. The contemporary experience of intermarriage for these women is decidedly transnational and fundamentally different from that of the war brides, or sensō hanayome.

  13. Hybrid origins of Australian honeybees (Apis mellifera)


    Chapman , Nadine C.; Harpur , Brock A.; Lim , Julianne; Rinderer , Thomas E.; Allsopp , Michael H.; Zayed , Amro; Oldroyd , Benjamin P.


    International audience; Abstract With increased globalisation and homogenisation, the maintenance of genetic integrity in local populations of agriculturally important species is of increasing concern. The western honeybee (Apis mellifera) provides an interesting perspective as it is both managed and wild, with a large native range and much larger introduced range. We employed a newly created 95 single nucleotide polymorphism (SNP) test to characterise the genetic ancestry of the Australian c...

  14. Australian Hackers and Ethics

    Directory of Open Access Journals (Sweden)

    M.J. Warren


    Full Text Available The aim of the paper is to look at the way hackers act and ways in which society can protect itself. The paper will show the current views and attitudes of hackers in an Australian context. The paper will also include a case study to show how a hacking incident can develop and how technology can be used to protect against hacking.

  15. Reverse-namaskar: A new sign in Ehlers-Danlos syndrome: A family pedigree study of four generations

    Directory of Open Access Journals (Sweden)

    Premalatha S


    Full Text Available Ehlers-Danlos Syndrome (EDS is a rare group of inheritable connective tissue disorder of defective collagen. Skin, joints and blood vessels are most commonly affected. Clinical signs such as Gorlin sign and Metenier sign have been described in this syndrome. We report another new clinical sign called ′Reverse-Namaskar′ sign as an important clinical finding in EDS, based on the family pedigree study of the proband.

  16. PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size

    Directory of Open Access Journals (Sweden)

    Camp Nicola J


    Full Text Available Abstract Background We present a general approach to perform association analyses in pedigrees of arbitrary size and structure, which also allows for a mixture of pedigree members and independent individuals to be analyzed together, to test genetic markers and qualitative or quantitative traits. Our software, PedGenie, uses Monte Carlo significance testing to provide a valid test for related individuals that can be applied to any test statistic, including transmission disequilibrium statistics. Single locus at a time, composite genotype tests, and haplotype analyses may all be performed. We illustrate the validity and functionality of PedGenie using simulated and real data sets. For the real data set, we evaluated the role of two tagging-single nucleotide polymorphisms (tSNPs in the DNA repair gene, NBS1, and their association with female breast cancer in 462 cases and 572 controls selected to be BRCA1/2 mutation negative from 139 high-risk Utah breast cancer families. Results The results from PedGenie were shown to be valid both for accurate p-value calculations and consideration of pedigree structure in the simulated data set. A nominally significant association with breast cancer was observed with the NBS1 tSNP rs709816 for carriage of the rare allele (OR = 1.61, 95% CI = 1.10–2.35, p = 0.019. Conclusion PedGenie is a flexible and valid statistical tool that is intuitively simple to understand, makes efficient use of all the data available from pedigrees without requiring trimming, and is flexible to the types of tests to which it can be applied. Further, our analyses of real data indicate NBS1 may play a role in the genetic etiology of heritable breast cancer.

  17. A colony of dog guides: analysis of the genetic variability assessed by pedigree data

    Directory of Open Access Journals (Sweden)

    Roberta Ciampolini


    Full Text Available The study presents the analysis of the genetic variability in a colony of dog guides. Three breeds, Labrador (L, Golden Retriever (GR, and German Shepherd (GS, were evaluated. Pedigrees data on 370 L, 260 GR, and 85 GS dogs bred for guide by the National Guide Dog School (SNCG of Scandicci (Florence, Italy were used. Data were available beginning from 1994. The average coefficient of coancestry and the mean F were 0.8% and 0.45% in GR, 0.7% and 0.38% in L, 1.0% and 0.49% in GS, respectively. The rate of increase in inbreeding was lower in L population (0.17 than in GR population (0.54, while in GS only the dogs with 5 e 7 traced generations resulted inbred. The results of this research point out that the genetic management of the dogs seems to be carefully and rationally monitored. Nevertheless, the population that may require a greater attention seems to be the GR, where a higher increase of the coefficient of inbreeding per generation is observed; therefore, the importation of germplasm from other working dogs is desirable in order to avoid in future an excessive increase of the inbreeding that could lead to adverse consequences for dogs health and fertility.

  18. Efficient computation of the joint probability of multiple inherited risk alleles from pedigree data. (United States)

    Madsen, Thomas; Braun, Danielle; Peng, Gang; Parmigiani, Giovanni; Trippa, Lorenzo


    The Elston-Stewart peeling algorithm enables estimation of an individual's probability of harboring germline risk alleles based on pedigree data, and serves as the computational backbone of important genetic counseling tools. However, it remains limited to the analysis of risk alleles at a small number of genetic loci because its computing time grows exponentially with the number of loci considered. We propose a novel, approximate version of this algorithm, dubbed the peeling and paring algorithm, which scales polynomially in the number of loci. This allows extending peeling-based models to include many genetic loci. The algorithm creates a trade-off between accuracy and speed, and allows the user to control this trade-off. We provide exact bounds on the approximation error and evaluate it in realistic simulations. Results show that the loss of accuracy due to the approximation is negligible in important applications. This algorithm will improve genetic counseling tools by increasing the number of pathogenic risk alleles that can be addressed. To illustrate we create an extended five genes version of BRCAPRO, a widely used model for estimating the carrier probabilities of BRCA1 and BRCA2 risk alleles and assess its computational properties. © 2018 WILEY PERIODICALS, INC.

  19. Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

    Directory of Open Access Journals (Sweden)

    Saleha S


    Full Text Available Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the SOX2 gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the SOX2 gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family.

  20. Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research (United States)

    Ajmal, M; Zafar, S; Hameed, A


    ABSTRACT Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR) markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the SOX2 gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the SOX2 gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family. PMID:27785411

  1. Familial history, age and smoking are important risk factors for disc degeneration disease in Arabic pedigrees

    International Nuclear Information System (INIS)

    Livshits, Gregory; Cohen, Zvi; Higla, Orabi; Yakovenko, Konstantin


    The present study used computed tomography imaging to evaluate the extent and pattern of the intergenerational transmission of spinal disc degeneration disease (DDD) in complex pedigrees. Contribution of a number of the potential covariates was also studied using univariate and multivariate logistic regression analysis, as well as two types of complex segregation analysis models. Among 161 individuals studied, DDD was diagnosed in 60 individuals. The number of protruded discs varied from 1 to 4, mostly in lumbar or lumbosacral regions. The average age at onset of the disease was similar for both women (36.0 years) and men (34.8 years). The proportion of the individuals affected by the DDD status of their parents ranged from 10% in families of two healthy parents to 55.5% of two affected parents (p < 0.01). The results of the logistic regression analyses and complex segregation analysis were qualitatively the same: DDD status of parents, age and smoking were the main risk factors for disc herniation in the Arabic families we examined. All analyses showed a predominating role of the family history as a risk factor for DDD in offsprings. It showed, for example, four times higher risk at age 50 for individuals with two affected parents vs. those who have two non-affected parents. However, the results of models-fitting genetic analysis, did not confirm a monogenic Mendelian pattern of inheritance

  2. Premenstrual mood symptoms: study of familiality and personality correlates in mood disorder pedigrees. (United States)

    Payne, Jennifer L; Klein, Sarah R; Zamoiski, Rachel B; Zandi, Peter P; Bienvenu, Oscar J; Mackinnon, Dean F; Mondimore, Francis M; Schweizer, Barbara; Swartz, Karen L; Crowe, Raymond P; Scheftner, William A; Weissman, Myrna M; Levinson, Douglas F; DePaulo, J Raymond; Potash, James B


    We sought to determine whether premenstrual mood symptoms exhibit familial aggregation in bipolar disorder or major depression pedigrees. Two thousand eight hundred seventy-six women were interviewed with the Diagnostic Interview for Genetic Studies as part of either the NIMH Genetics Initiative Bipolar Disorder Collaborative study or the Genetics of Early Onset Major Depression (GenRED) study and asked whether they had experienced severe mood symptoms premenstrually. In families with two or more female siblings with bipolar disorder (BP) or major depressive disorder (MDD), we examined the odds of having premenstrual mood symptoms given one or more siblings with these symptoms. For the GenRED MDD sample we also assessed the impact of personality as measured by the NEO-FFI. Premenstrual mood symptoms did not exhibit familial aggregation in families with BP or MDD. We unexpectedly found an association between high NEO openness scores and premenstrual mood symptoms, but neither this factor, nor NEO neuroticism influenced evidence for familial aggregation of symptoms. Limitations include the retrospective interview, the lack of data on premenstrual dysphoric disorder, and the inability to control for factors such as medication use.

  3. Effectiveness of 10 polymorphic microsatellite markers for parentage and pedigree analysis in plateau pika (Ochotona curzoniae

    Directory of Open Access Journals (Sweden)

    Zhang Yanming


    Full Text Available Abstract Background The plateau pika (Ochotona curzoniae is an underground-dwelling mammal, native to the Tibetan plateau of China. A set of 10 polymorphic microsatellite loci has been developed earlier. Its reliability for parentage assignment has been tested in a plateau pika population. Two family groups with a known pedigree were used to validate the power of this set of markers. Results The error in parentage assignment using a combination of these 10 loci was very low as indicated by their power of discrimination (0.803 - 0.932, power of exclusion (0.351 - 0.887, and an effectiveness of the combined probability of exclusion in parentage assignment of 99.999%. Conclusion All the offspring of a family could be assigned to their biological mother; and their father or relatives could also be identified. This set of markers therefore provides a powerful and efficient tool for parentage assignment and other population analyses in the plateau pika.

  4. Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX. (United States)

    Jiang, Yu; Pan, Jingxin; Guo, Dongwei; Zhang, Wei; Xie, Jie; Fang, Zishui; Guo, Chunmiao; Fang, Qun; Jiang, Weiying; Guo, Yibin


    Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder characterized by increased bone fragility and vulnerability to fractures. PPIB is identified as a candidate gene for OI-IX, here we detect two pathogenic mutations in PPIB and analyze the genotype-phenotype correlation in a Chinese family with OI. Next-generation sequencing (NGS) was used to screen the whole exome of the parents of proband. Screening of variation frequency, evolutionary conservation comparisons, pathogenicity evaluation, and protein structure prediction were conducted to assess the pathogenicity of the novel mutations. Sanger sequencing was used to confirm the candidate variants. RTQ-PCR was used to analyze the PPIB gene expression. All mutant genes screened out by NGS were excluded except PPIB. Two novel heterozygous PPIB mutations (father, c.25A>G; mother, c.509G>A) were identified in relation to osteogenesis imperfecta type IX. Both mutations were predicted to be pathogenic by bioinformatics analysis and RTQ-PCR analysis revealed downregulated PPIB expression in the two carriers. We report a rare pedigree with an autosomal recessive osteogenesis imperfecta type IX (OI-IX) caused by two novel PPIB mutations identified for the first time in China. The current study expands our knowledge of PPIB mutations and their associated phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Timing of the uv mutagenesis in yeast: a pedigree analysis of induced recessive mutation

    International Nuclear Information System (INIS)

    James, A.P.; Kilbey, B.J.


    The mechanism of uv-induced mutation in eukaryotes was studied in individual yeast cells by a procedure that combined pedigree analysis and tetrad analysis. The technique involved the induction of recessive lethals and semilethals in G1 diploid cells. Induced frequencies were 25 and 61% at survival levels of 90 and 77%, respectively. No evidence of gross chromosome aberrations was detected. Recessive mutations that affect only one strand or that affect both strands of the DNA molecule are induced much at random among a population of cells, and both types can occur within the same cell. However, the data confirm that two-strand mutations are in the majority after a low level of irradiation. The simplest explanation involves a mechanism whereby most mutations are fixed in both strands prior to the first round of post-irradiation DNA replication. The recessive mutational consequences of irradiation are exhausted at the conclusion of the first post-irradiation cell division, although dominant-lethal sectoring continues at a high level through the second post-irradiation division. It is concluded that pyrimidine dimers that persist to the second round of DNA replication are rare or ineffective

  6. The timing of UV mutagenesis in yeast: a pedigree analysis of induced recessive mutation. (United States)

    James, A P; Kilbey, B J


    The mechanism of UV-induced mutation in eukaryotes was studied in individual yeast cells by a procedure that combined pedigree analysis and tetrad analysis. The technique involved the induction of recessive lethals and semilethals in G1 diploid cells. Induced frequencies were 25 and 61 percent at survival levels of 90 and 77 percent, respectively. No evidence of gross chromosome aberrations was detected. Recessive mutations that affect only one strand or that affect both strands of the DNA molecule are induced much at random among a population of cells, and both types can occur within the same cell. However, the data confirm that two-strand mutations are in the majority after a low level of irradiation. The simplest explanation involves a mechanism whereby most mutations are fixed in both strands prior to the first round of post-irradiation DNA replication. The recessive mutational consequences of irradiation are exhausted at the conclusion of the first post-irradiation cell division, although dominant-lethal sectoring continues at a high level through the second post-irradiation division. It is concluded that pyrimidine dimers that persist to the second round of DNA replication are rare or ineffective.

  7. Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. (United States)

    Ghahraman, Martha; Abbaszadegan, Mohammad Reza; Vakili, Rahim; Hosseini, Sousan; Fardi Golyan, Fatemeh; Ghaemi, Nosrat; Forghanifard, Mohammad Mahdi


    Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1. Our aim in this study was to sequence WFS1 coding region in Iranian Wolfram syndrome pedigrees. Genomic DNA was extracted from peripheral blood of 12 WS patients and their healthy parents. Exons 2-8 and the exon-intron junctions of WFS1 were sequenced. DNA sequences were compared to the reference using Sequencher software. Molecular analysis of WFS1 revealed six different mutations. Four novel and two previously reported mutations were identified. One novel mutation, c.1379_1381del, is predicted to produce an aberrant protein. A second novel mutation, c.1384G > T, encodes a truncated protein. Novel mutation, c.1097-1107dup (11 bp), causes a frameshift which results in a premature stop codon. We screened for the novel missense mutation, c.1010C > T, in 100 control alleles. This mutation was not found in any of the healthy controls. Our study increased the spectrum of WFS1 mutations and supported the role of WFS1 in susceptibility to WS. We hope that these findings open new horizons to future molecular investigations which may help to prevent and treat this devastating disease.

  8. Evolution of the genetic variability of eight French dairy cattle breeds assessed by pedigree analysis. (United States)

    Danchin-Burge, C; Leroy, G; Brochard, M; Moureaux, S; Verrier, E


    A pedigree analysis was performed on eight French dairy cattle breeds to assess their change in genetic variability since a first analysis completed in 1996. The Holstein, Normande and Montbéliarde breeds are selected internationally with over hundreds of thousands cows registered in the performance recording system. Three breeds are internationally selected but with limited numbers of cows in France (Brown Swiss, French Simmental and French Red Pied). The last two remaining breeds (Abondance and Tarentaise) are raised at regional level. The effective numbers of ancestors of cows born between 2004 and 2007 varied between 15 (Abondance and Tarentaise) and 51 (French Red Pied). The effective population sizes (classical approach) varied between 53 (Abondance) and 197 (French Red Pied). This article also compares the genetic variability of the ex situ (collections of the French National Cryobank) and in situ populations. The results were commented in regard to the recent history of gene flows in the different breeds as well as the existence of more or less stringent bottlenecks. Our results showed that whatever the size of the breeds, their genetic diversity impoverished quite rapidly since 1996 and they all could be considered as quite poor from a genetic diversity point of view. It shows the need for setting up cryobanks as gene reservoirs as well as sustainable breeding programmes that include loss of genetic diversity as an integrated control parameter. © 2011 Blackwell Verlag GmbH.

  9. Determination of genetic relatedness from low-coverage human genome sequences using pedigree simulations. (United States)

    Martin, Michael D; Jay, Flora; Castellano, Sergi; Slatkin, Montgomery


    We develop and evaluate methods for inferring relatedness among individuals from low-coverage DNA sequences of their genomes, with particular emphasis on sequences obtained from fossil remains. We suggest the major factors complicating the determination of relatedness among ancient individuals are sequencing depth, the number of overlapping sites, the sequencing error rate and the presence of contamination from present-day genetic sources. We develop a theoretical model that facilitates the exploration of these factors and their relative effects, via measurement of pairwise genetic distances, without calling genotypes, and determine the power to infer relatedness under various scenarios of varying sequencing depth, present-day contamination and sequencing error. The model is validated by a simulation study as well as the analysis of aligned sequences from present-day human genomes. We then apply the method to the recently published genome sequences of ancient Europeans, developing a statistical treatment to determine confidence in assigned relatedness that is, in some cases, more precise than previously reported. As the majority of ancient specimens are from animals, this method would be applicable to investigate kinship in nonhuman remains. The developed software grups (Genetic Relatedness Using Pedigree Simulations) is implemented in Python and freely available. © 2017 John Wiley & Sons Ltd.

  10. Male-to-male transmission in extended pedigrees with multiple cases of autism

    Energy Technology Data Exchange (ETDEWEB)

    Hallmayer, J.; Spiker, D.; Lotspeich, L. [Stanford Univ., CA (United States)] [and others


    Despite strong genetic influences in autism, the true mode of inheritance remains unknown. Sex differences in autism have been described in both singleton and multiplex families: boys outnumber girls by 3 or 4 to 1, and so a sex-linked mode of transmission must also be considered. The key characteristic of X-linkage is that all sons of affected men are unaffected (no male-to-male transmission). In the present study, which is part of an ongoing linkage project in autism, we describe 77 multiplex autism families, 11 of who are affected cousin or half-sibling families. By using these families, it is possible to trace the path of genetic transmission and observe whether the hypothesis of X-linkage is tenable. Of 11 extended pedigrees from 77 multiplex families, six show male-to-male transmission; in these families, X-linkage can be excluded as the genetic basis for their autism. The data from the other five families are compatible with either an autosomal or an X-linked mode of transmission. The key point to emerge, then, is that autism cannot be exclusively an X-linked disorder; there must be an autosomal mode of transmission at least in some families. Thus we must consider the alternative hypotheses that autism is either entirely autosomal, or it is genetically heterogeneous, involving at least one autosomal locus with gender-specific expression, as well as a possible locus on the X-chromosome. 28 refs., 1 fig.

  11. The double pedigree: a method for studying culturally and genetically inherited behavior in tandem.

    Directory of Open Access Journals (Sweden)

    Etienne Danchin

    Full Text Available Transgenerational sources of biological variation have been at the center of evolutionary studies ever since Darwin and Wallace identified natural selection. This is because evolution can only operate on traits whose variation is transmitted, i.e. traits that are heritable. The discovery of genetic inheritance has led to a semantic shift, resulting in the tendency to consider that only genes are inherited across generations. Today, however, concepts of heredity are being broadened again to integrate the accruing evidence of non-genetic inheritance, and many evolutionary biologists are calling for the inclusion of non-genetic inheritance into an inclusive evolutionary synthesis. Here, we focus on social heredity and its role in the inheritance of behavioral traits. We discuss quantitative genetics methods that might allow us to disentangle genetic and non-genetic transmission in natural populations with known pedigrees. We then propose an experimental design based on cross-fostering among animal cultures, environments and families that has the potential to partition inherited phenotypic variation into socially (i.e. culturally and genetically inherited components. This approach builds towards a new conceptual framework based on the use of an extended version of the animal model of quantitative genetics to integrate genetic and cultural components of behavioral inheritance.

  12. Does perfectionism in bipolar disorder pedigrees mediate associations between anxiety/stress and mood symptoms? (United States)

    Corry, Justine; Green, Melissa; Roberts, Gloria; Fullerton, Janice M; Schofield, Peter R; Mitchell, Philip B


    Bipolar disorder (BD) and the anxiety disorders are highly comorbid. The present study sought to examine perfectionism and goal attainment values as potential mechanisms of known associations between anxiety, stress and BD symptomatology. Measures of perfectionism and goal attainment values were administered to 269 members of BD pedigrees, alongside measures of anxiety and stress, and BD mood symptoms. Regression analyses were used to determine whether perfectionism and goal attainment values were related to depressive and (hypo)manic symptoms; planned mediation models were then used to test the potential for perfectionism to mediate associations between anxiety/stress and BD symptoms. Self-oriented perfectionism was associated with chronic depressive symptoms; socially-prescribed perfectionism was associated with chronic (hypo)manic symptoms. Self-oriented perfectionism mediated relationships between anxiety/stress and chronic depressive symptoms even after controlling for chronic hypomanic symptoms. Similarly, socially-prescribed perfectionism mediated associations between anxiety/stress and chronic hypomanic symptoms after controlling for chronic depressive symptoms. Goal attainment beliefs were not uniquely associated with chronic depressive or (hypo)manic symptoms. Cognitive styles of perfectionism may explain the co-occurrence of anxiety and stress symptoms and BD symptoms. Psychological interventions for anxiety and stress symptoms in BD might therefore address perfectionism in attempt to reduce depression and (hypo)manic symptoms in addition to appropriate pharmacotherapy.

  13. Conditions for Australian consent to reprocessing

    International Nuclear Information System (INIS)



    This article contains the text of the statement by the Australian Minister for Foreign Affairs to the House of Representatives, Noember 1980, on conditions for Australian consent to the reprocessing of nuclear material of Australian origin

  14. Review of Australian Higher Education: An Australian Policy Perspective (United States)

    Montague, Alan


    Higher education is one of the key foundations that economic prosperity is founded upon. Government policies, funding and strategic planning require a fine balance to stimulate growth, prosperity health and well-being. The key Australian government policies influenced by a Review of Australian Higher Education report include attracting many more…

  15. Comparison and Validation of Long Time Serial Global GEOV1 and Regional Australian MODIS Fractional Vegetation Cover Products Over the Australian Continent

    Directory of Open Access Journals (Sweden)

    Yanling Ding


    Full Text Available Fractional vegetation cover (FVC is one of the most critical parameters in monitoring vegetation status. Comprehensive assessment of the FVC products is critical for their improvement and use in land surface models. This study investigates the performances of two major long time serial FVC products: GEOV1 and Australian MODIS. The spatial and temporal consistencies of these products were compared during the 2000–2012 period over the main biome types across the Australian continent. Their accuracies were validated by 443 FVC in-situ measurements during the 2011–2012 period. Our results show that there are strong correlations between the GEOV1 and Australian MODIS FVC products over the main Australian continent while they exhibit large differences and uncertainties in the coastal regions covered by dense forests. GEOV1 and Australian MODIS describe similar seasonal variations over the main biome types with differences in magnitude, while Australian MODIS exhibit unstable temporal variations over grasslands and shifted seasonal variations over evergreen broadleaf forests. The GEOV1 and Australian MODIS products overestimate FVC values over the biome types with high vegetation density and underestimate FVC in sparsely vegetated areas and grasslands. Overall, the GEOV1 and Australian MODIS FVC products agree with in-situ FVC values with a RMSE around 0.10 over the Australian continent.

  16. Australian research reactor studies

    International Nuclear Information System (INIS)

    McCulloch, D.B.


    The Australian AEC has two research reactors at the Lucas Heights Research Establishment, a 10 HW DIDO class materials testing reactor, HIFAR, and a smaller 100kW reactor MOATA, which was recently upgraded from 10kW power level. Because of the HIFAR being some 20 years old, major renewal and repair programmes are necessary to keep it operational. To enable meeting projected increases in demand for radioisotopes, plans for a new reactor to replace the HIFAR have been made and the design criteria are described in the paper. (author)

  17. Western Australian natural gas

    International Nuclear Information System (INIS)

    Harman, Frank


    Western Australia has 80% of Australia's natural gas resources. These are currently exploited to supply the Western Australian market and LNG to Japan. Growth in the market is dependent on limited prospects for power generation and mineral resource processing. Future exploitation of gas resources will require new export LNG markets and/or the installations of a transcontinental pipeline to eastern Australia. The transcontinental option should only be considered after other options for energy supply in eastern Australia are eliminated. Competition to meet market growth in North-east Asia will be considerable and Australia lacks the policies to underpin future LNG capacity. (author)

  18. Australian nuclear safeguards

    International Nuclear Information System (INIS)

    Kerin, J.C.


    The Australian Government considers that allegations made by the West German magazine - Der Spiegel in its January and February 1988 editions, flow from a lack of understanding of the complexities of international trade in nuclear materials, confusion between internal and international flag swaps and failure to comprehend the equivalence principle used in nuclear materials accounting. The Ministerial statement briefly outlines these issues and concludes that there is no evidence that any material subject to Australia's bilateral safeguards agreement has been diverted from peaceful uses or that Australia's safeguard requirements have been breached

  19. Australian methane fluxes

    International Nuclear Information System (INIS)

    Williams, D.J.


    Estimates are provided for the amount of methane emitted annually into the atmosphere in Australia for a variety of sources. The sources considered are coal mining, landfill, motor vehicles, natural gas suply system, rice paddies, bushfires, termites, wetland and animals. This assessment indicates that the major sources of methane are natural or agricultural in nature and therefore offer little scope for reduction. Nevertheless the remainder are not trival and reduction of these fluxes could play a significant part in any Australian action on the greenhouse problem. 19 refs., 7 tabs., 1 fig

  20. Australian University International Student Finances (United States)

    Forbes-Mewett, Helen; Marginson, Simon; Nyland, Chris; Ramia, Gaby; Sawir, Erlenawati


    The omission of international students from the Australian Vice-Chancellor's Committee (AVCC) 2007 national study on student finances is indicative of a pattern of exclusion. The exclusion is unacceptable from a humane perspective and feeds the belief that Australians perceive international students primarily as "cash cows". This study…

  1. Australians' use of surrogacy. (United States)

    Everingham, Sam G; Stafford-Bell, Martyn A; Hammarberg, Karin


    To investigate the characteristics of parents and intended parents and their current and planned behaviour in relation to surrogacy arrangements. Members of two Australian parenting support forums who were considering surrogacy or were currently or previously in a surrogacy arrangement were invited to complete an online survey during July 2013. Sociodemographic characteristics; proportions engaging in domestic uncompensated and overseas compensated arrangements; countries used; costs incurred; and impact on behaviour of state laws criminalising compensated surrogacy. Of 1135 potential participants, 312 (27%) commenced the survey. Of these, 24 did not fulfil inclusion criteria and 29 did not complete the survey. Eighty-nine respondents were considering surrogacy and 170 had commenced or completed surrogacy. Many respondents (53%) considered both overseas and domestic surrogacy. Among those who only considered one option, overseas surrogacy was considered significantly more often than domestic surrogacy (92% v 8%; P surrogacy were India and the United States, and average total estimated costs were $69 212 for India and $172 347 for the US. Barriers discouraging domestic surrogacy included concern that the surrogate might keep the child (75%), belief that it was too long and complicated a process (68%) and having no one of the right age or life stage to ask (61%). Few intended parents (9%) were deterred by state laws criminalising compensated surrogacy. Most Australian intended parents via surrogacy consider or use overseas compensated arrangements. Laws banning compensated surrogacy do not appear to deter those seeking surrogacy arrangements.

  2. The Australian synchrotron research program

    International Nuclear Information System (INIS)

    Garrett, R.F.


    Full text: The Australian Synchrotron Research Program (ASRP) was established in 1996 under a 5 year grant from the Australian Government, and is managed by ANSTO on behalf of a consortium of Australian universities and research organisations. It has taken over the operation of the Australian National Beamline Facility (ANBF) at the Photon Factory, and has joined two CATS at the Advanced Photon Source: the Synchrotron Radiation Instrumentation CAT (SRI-CAT) and the Consortium for Advanced Radiation Sources (CARS). The ASRP thus manages a comprehensive range of synchrotron radiation research facilities for Australian science. The ANBF is a general purpose hard X-ray beamline which has been in operation at the Photon Factory since 1993. It currently caters for about 35 Australian research teams per year. The facilities available at the ANBF will be presented and the research program will be summarised. The ASRP facilities at the APS comprise the 5 sectors operated by SRI-CAT, BioCARS and ChemMatCARS. A brief description will be given of the ASRP research programs at the APS, which will considerably broaden the scope of Australian synchrotron science

  3. [The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis]. (United States)

    Zhang, J; Wang, Y N; Wang, J S; Wu, L; Wei, N; Fu, L; Gao, Z; Chen, J H; Pei, R J; Wang, Z


    To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations. The DNA mutations of the four families included missense mutation c.T172C (p.S58P) and non- frameshift deletions c.1083_1094del (p.361_365del), missense mutation c.C1349T (p.T450M) and frameshift mutation c.1090_1091delCT (p.T364fsX93) in PRF1 gene, missense mutation c.G2588A (p.G863D) in UNC13D gene and hemizygous mutation c.32T>G (p.I11S) in SH2D1A gene. The patients and their family members presented decreased NK cell activities. Individuals who carried mutations of PRF1 gene and SH2D1A gene showed low expression of perforin (PRF1) and signaling lymphocytic activation molecule associated protein (SAP). And the patient with UNC13D gene mutation and his family member with identical mutation showed significant reducing cytotoxic degranulation function (expression of CD107a). Pedigree genetic screening and rapid detection of immunological parameters might play an important role in the diagnosis of primary HLH, and both of them had good consistency. As an efficient detection means, the rapid immunological detection indicators would provide reliable basis for the early diagnosis of the primary HLH.

  4. NMR-Based Metabolomic Investigations on the Differential Responses in Adductor Muscles from Two Pedigrees of Manila Clam Ruditapes philippinarum to Cadmium and Zinc

    Directory of Open Access Journals (Sweden)

    Junbao Yu


    Full Text Available Manila clam Ruditapes philippinarum is one of the most important economic species in shellfishery in China due to its wide geographic distribution and high tolerance to environmental changes (e.g., salinity, temperature. In addition, Manila clam is a good biomonitor/bioindicator in “Mussel Watch Programs” and marine environmental toxicology. However, there are several pedigrees of R. philippinarum distributed in the marine environment in China. No attention has been paid to the biological differences between various pedigrees of Manila clams, which may introduce undesirable biological variation in toxicology studies. In this study, we applied NMR-based metabolomics to detect the biological differences in two main pedigrees (White and Zebra of R. philippinarum and their differential responses to heavy metal exposures (Cadmium and Zinc using adductor muscle as a target tissue to define one sensitive pedigree of R. philippinarum as biomonitor for heavy metals. Our results indicated that there were significant metabolic differences in adductor muscle tissues between White and Zebra clams, including higher levels of alanine, glutamine, hypotaurine, phosphocholine and homarine in White clam muscles and higher levels of branched chain amino acids (valine, leucine and isoleucine, succinate and 4-aminobutyrate in Zebra clam muscles, respectively. Differential metabolic responses to heavy metals between White and Zebra clams were also found. Overall, we concluded that White pedigree of clam could be a preferable bioindicator/biomonitor in marine toxicology studies and for marine heavy metals based on the relatively high sensitivity to heavy metals.

  5. Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. (United States)

    Kooshavar, Daniz; Razipour, Masoumeh; Movasat, Morteza; Keramatipour, Mohammad


    Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands. Then segregation analysis in the pedigree was conducted using PCR-Sanger sequencing. Targeted NGS detected a novel homozygous nonsense variant c.4513G > T (p.Glu1505Ter) in MYO7A. The variant is segregating in the pedigree with an autosomal recessive pattern. In this study, a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1. Bioinformatic as well as pedigree segregation analyses were in line with pathogenic nature of this variant. Targeted NGS panel was showed to be an efficient method for mutation detection in hereditary disorders with locus heterogeneity. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Australian coal year book 1986

    Energy Technology Data Exchange (ETDEWEB)


    This yearbook presents a review of the Australian coal industry during the 1984-85 financial year. Included are details on mines, future prospects, coal export facilities and ports, annual cost statistics and a index of coal mine owners.

  7. 1982 Australian coal conference papers

    Energy Technology Data Exchange (ETDEWEB)


    This third Australian coal conference included papers discussing the market for coal, finance and investment, use of computers, mining, coal research, coal preparation and waste disposal, marketing and trade, and the transport of coal. All papers have been individually abstracted.

  8. Foundations of Australian Agricultural Economics


    Myers, Laurel


    In the early years of the twentieth century, Australia's leading economists were well versed in the nature of Australian agriculture but it was not until the 1930s and 1940s that scientists and economists alike realised there was an obvious need for trained agricultural economists. In this paper it is argued that the foundations of Australian agricultural economics were laid in the period immediately following the economic upheaval of the Great Depression and the Second World War. The formali...

  9. Australian black coal statistics 1991

    Energy Technology Data Exchange (ETDEWEB)


    This third edition of Australian black coal statistics covers anthracite, bituminous and subbituminous coals. It includes maps and figures on resources and coal fields and statistics (mainly based on the calendar year 1991) on coal demand and supply, production, employment and productivity in Australian coal mines, exports, prices and ports, and domestic consumption. A listing of coal producers by state is included. A final section presents key statistics on international world trade in 1991. 54 tabs.

  10. A comparison of pedigree- and DNA-based measures for identifying inbreeding depression in the critically endangered Attwater's Prairie-chicken. (United States)

    Hammerly, Susan C; Morrow, Michael E; Johnson, Jeff A


    The primary goal of captive breeding programmes for endangered species is to prevent extinction, a component of which includes the preservation of genetic diversity and avoidance of inbreeding. This is typically accomplished by minimizing mean kinship in the population, thereby maintaining equal representation of the genetic founders used to initiate the captive population. If errors in the pedigree do exist, such an approach becomes less effective for minimizing inbreeding depression. In this study, both pedigree- and DNA-based methods were used to assess whether inbreeding depression existed in the captive population of the critically endangered Attwater's Prairie-chicken (Tympanuchus cupido attwateri), a subspecies of prairie grouse that has experienced a significant decline in abundance and concurrent reduction in neutral genetic diversity. When examining the captive population for signs of inbreeding, variation in pedigree-based inbreeding coefficients (f(pedigree)) was less than that obtained from DNA-based methods (f(DNA)). Mortality of chicks and adults in captivity were also positively correlated with parental relatedness (r(DNA)) and f(DNA), respectively, while no correlation was observed with pedigree-based measures when controlling for additional variables such as age, breeding facility, gender and captive/release status. Further, individual homozygosity by loci (HL) and parental rDNA values were positively correlated with adult mortality in captivity and the occurrence of a lethal congenital defect in chicks, respectively, suggesting that inbreeding may be a contributing factor increasing the frequency of this condition among Attwater's Prairie-chickens. This study highlights the importance of using DNA-based methods to better inform management decisions when pedigrees are incomplete or errors may exist due to uncertainty in pairings. © 2013 John Wiley & Sons Ltd.

  11. Water metabolism in Australian marsupials

    International Nuclear Information System (INIS)

    Hume, I.D.


    Several studies are discussed in which tritiated water (TOH) has been used to investigate water metabolism in Australian marsupials, particularly arid-zone species. Equilibration of injected TOH in large kangaroos was slower than in smaller marsupials and similar to that in ruminants and camels, presumably because of the high gut water space of all large forestomach fermenters. Loss of TOH in urine, faeces and insensible water during equilibration was also similar to that in ruminants. Total body water (TBW) was similar whether estimated by equilibration or extrapolation. TBW of small marsupial species (16 g to 6.5 kg body weight) was usually in the range found for small eutherian mammals (56 to 68% of body weight). However, in the larger kangaroos TBW ranged from 73 to 78% of body weight, possibly due to the low body fat content and the high ratio of gut contents to total body weight of kangaroos. In general, the water turnover rate of marsupials is about 30% below that of eutherians; this has been related to their lower metabolic rate. Nevertheless, significant differences in water turnover have been found between some species. It has been suggested that there may be a correlation between the water turnover rates measured under ad libitum water availability and the aridity of the animal's habitat. However, this is not always so; differences in behaviour and in the water content of the natural diet explain why some marsupials with high ad libitum water turnovers can survive in desert environments. The physiological state of the animals (e.g. lactation) has also been shown to affect water turnover, both in the laboratory and in the field. (author)

  12. Lead poisoning in Australian fruit bats (Pteropus poliocephalus)

    Energy Technology Data Exchange (ETDEWEB)

    Zook, B.C.; Sauer, R.M.; Garner, F.M.


    Lead poisoning was diagnosed in 3 Australian fruit bats. Diagnoses were indicated by the finding of large acid-fast intranuclear inclusion bodies in renal and hepatic cells, and toxic amounts of lead in tissues. The source of lead was believed to be peeling leaded paint from the walls of the bats' cage.

  13. A requirement for Australian research: access to 'big science' facilities, a report by the Australian National Committee for crystallography

    International Nuclear Information System (INIS)


    Two types of 'Big Science' research facility - synchrotron radiation sources and intense neutron beams - are now recognised as essential resources for a wide range of research activities in chemistry, physics and biology. The cost of such facilities and the lack of a sufficiently large user base will probably preclude their construction in Australia in the foreseeable future. The needs of Australian crystallographers for access to such facilities are assessed. In relation to synchrotron radiation sources, the Committee considered only the question of access to such facilities overseas. In relation to neutron beam sources, the Committee's inquiries included not only the question of access to powerful facilities overseas but also the special problems which confront Australian crystallographers as a result of the obsolescence of the HIFAR reactor. The arguments about, and options for, funding Australian use of facilities overseas are presented. The Committee concluded there is a strong case for the purchase of a beam-line at an overseas synchrotron radiation facility and a strong, though less urgent, case for substantial Australian involvement in an overseas neutron beam facility. The Committee recommended that the Australian HIFAR reactor be refurbished in its present shell, retaining the present flux and power levels, and that in the upgrading of the neutron scattering instrumentation at HIFAR special consideration be given to including items which are sufficiently specialised to attract the international neutron scattering community

  14. Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing (United States)

    Lo, David; Weng, Jingning; Liu, xiaohong; Yang, Juhua; He, Fen; Wang, Yun; Liu, Xuyang


    PURPOSE To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP). METHODS All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants. All variants were verified in the remaining family members by PCR amplification and Sanger sequencing. RESULTS All the affected subjects in this pedigree were diagnosed with retinitis pigmentosa (RP). The compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations in the Crumbs homolog 1 (CRB1) gene were identified in all the affected patients but not in the unaffected individuals in this family. These mutations were inherited from their parents, respectively. CONCLUSION The novel compound heterozygous mutations in CRB1 were identified in a Chinese pedigree with ARRP using targeted-capture next generation sequencing. After evaluating the significant heredity and impaired protein function, the compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations are the causal genes of early onset ARRP in this pedigree. To the best of our knowledge, there is no previous report regarding the compound mutations. PMID:27806333

  15. 26 CFR 1.1291-1 - Taxation of U.S. persons that are shareholders of PFICs that are not pedigreed QEFs. (United States)


    ... 26 Internal Revenue 11 2010-04-01 2010-04-01 true Taxation of U.S. persons that are shareholders of PFICs that are not pedigreed QEFs. 1.1291-1 Section 1.1291-1 Internal Revenue INTERNAL REVENUE... Determining Capital Gains and Losses § 1.1291-1 Taxation of U.S. persons that are shareholders of PFICs that...

  16. Genomic-Enabled Prediction Based on Molecular Markers and Pedigree Using the Bayesian Linear Regression Package in R

    Directory of Open Access Journals (Sweden)

    Paulino Pérez


    Full Text Available The availability of dense molecular markers has made possible the use of genomic selection in plant and animal breeding. However, models for genomic selection pose several computational and statistical challenges and require specialized computer programs, not always available to the end user and not implemented in standard statistical software yet. The R-package BLR (Bayesian Linear Regression implements several statistical procedures (e.g., Bayesian Ridge Regression, Bayesian LASSO in a unified framework that allows including marker genotypes and pedigree data jointly. This article describes the classes of models implemented in the BLR package and illustrates their use through examples. Some challenges faced when applying genomic-enabled selection, such as model choice, evaluation of predictive ability through cross-validation, and choice of hyper-parameters, are also addressed.

  17. Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD deficiency of a Javanese Chinese family in Indonesia

    Directory of Open Access Journals (Sweden)

    IDG Ugrasena


    Full Text Available The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of  MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T, corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T, corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation.

  18. BOOMERANG - the Australian light source

    International Nuclear Information System (INIS)

    Boldeman, J.W.; Garrett, R.L.


    A proposal has been prepared for the installation in Australia of a national high performance synchrotron light facility called Boomerang. The Boomerang proposal had its origin in the establishment of the Australian Synchrotron Research Program (ASRP) which was one of the seven Major National Research Facilities announced by the Federal Government in December 1995. The ASRP provides the opportunity and funding for Australian researchers to access international synchrotron facilities, specifically two consortia at the Advanced Photon Source (APS) at the Argonne National Laboratory, USA and continued interaction with the Photon Factory at the KEK Laboratory in Japan. The ASRP was the successor to the Australian National Beamline Facility project (ANBF) which began in 1991 following the ASTEC inquiry titled 'Small Country - Big Science'. The Federal Government also provided funding for a Feasibility Study to determine the value of establishing an Australian-based synchrotron radiation facility. The Feasibility Study was completed in August 1998 and endorsed by the institutional members of the ASRP and the research community in general. The study concluded that, on the data available in Australia, there was a strong case for the installation of an Australian-based facility. The study considered several options for an Australian-based facility and recommended that these options and the data supporting the general conclusions receive further investigation. A mission was arranged to a select group of overseas laboratories to explore these questions in detail. The review team included a mix of scientific and industrial experience and also represented the interests of the ASRP and an Industrial Synchrotron Consortium based in Victoria. Based on the conclusions of the overseas mission and incorporating the advice of all international specialists in the design and use of synchrotron facilities consulted during the mission, the most cost-effective option was an extended

  19. Lack of GNAQ and GNA11 germ-line mutations in familial melanoma pedigrees with uveal melanoma or blue nevi

    Directory of Open Access Journals (Sweden)

    Jason Ezra Hawkes


    Full Text Available Approximately 10% of melanoma cases are familial, but only 25-40% of familial melanoma cases can be attributed to germ-line mutations in the CDKN2A - the most significant high-risk melanoma susceptibility locus identified to date. The pathogenic mutation(s in most of the remaining familial melanoma pedigrees have not yet been identified. The most common mutations in nevi and sporadic melanoma are found in BRAF and NRAS, both of which result in constitutive activation of the MAPK pathway. However, these mutations are not found in uveal melanomas or the intradermal melanocytic proliferations known as blue nevi. Rather, multiple studies report a strong association between these lesions and somatic mutations in Guanine nucleotide-binding protein G(q subunit alpha (GNAQ, Guanine nucleotide-binding protein G(q subunit alpha-11 (GNA11 and BRCA1 associated protein-1 (BAP1. Recently, germ-line mutations in BAP1, the gene encoding a tumor suppressing deubiquitinating enzyme, have been associated with predisposition to a variety of cancers including uveal melanoma, but no studies have examined the association of germ-line mutations in GNAQ and GNA11 with uveal melanoma and blue nevi. We have now done so by sequencing exon 5 of both of these genes in 13 unique familial melanoma pedigrees, members of which have had either uveal or cutaneous melanoma and/or blue nevi. Germ-line DNA from a total of 22 individuals was used for sequencing; however no deleterious mutations were detected. Nevertheless, such candidate gene studies and the discovery of novel germ-line mutations associated with an increased MM susceptibility can lead to a better understanding of the pathways involved in melanocyte transformation, formulation of risk assessment, and the development of specific drug therapies.

  20. Genome scan of human systemic lupus erythematosus: Evidence for linkage on chromosome 1q in African-American pedigrees (United States)

    Moser, Kathy L.; Neas, Barbara R.; Salmon, Jane E.; Yu, Hua; Gray-McGuire, Courtney; Asundi, Neeraj; Bruner, Gail R.; Fox, Jerome; Kelly, Jennifer; Henshall, Stephanie; Bacino, Debra; Dietz, Myron; Hogue, Robert; Koelsch, Gerald; Nightingale, Lydia; Shaver, Tim; Abdou, Nabih I.; Albert, Daniel A.; Carson, Craig; Petri, Michelle; Treadwell, Edward L.; James, Judith A.; Harley, John B.


    Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by production of autoantibodies against intracellular antigens including DNA, ribosomal P, Ro (SS-A), La (SS-B), and the spliceosome. Etiology is suspected to involve genetic and environmental factors. Evidence of genetic involvement includes: associations with HLA-DR3, HLA-DR2, Fcγ receptors (FcγR) IIA and IIIA, and hereditary complement component deficiencies, as well as familial aggregation, monozygotic twin concordance >20%, λs > 10, purported linkage at 1q41–42, and inbred mouse strains that consistently develop lupus. We have completed a genome scan in 94 extended multiplex pedigrees by using model-based linkage analysis. Potential [log10 of the odds for linkage (lod) > 2.0] SLE loci have been identified at chromosomes 1q41, 1q23, and 11q14–23 in African-Americans; 14q11, 4p15, 11q25, 2q32, 19q13, 6q26–27, and 12p12–11 in European-Americans; and 1q23, 13q32, 20q13, and 1q31 in all pedigrees combined. An effect for the FcγRIIA candidate polymorphism) at 1q23 (lod = 3.37 in African-Americans) is syntenic with linkage in a murine model of lupus. Sib-pair and multipoint nonparametric analyses also support linkage (P 2.0). Our results are consistent with the presumed complexity of genetic susceptibility to SLE and illustrate racial origin is likely to influence the specific nature of these genetic effects. PMID:9843982

  1. Australian Journalists' Professional and Ethical Values. (United States)

    Henningham, John


    Reports on the first comprehensive national study of Australian journalists. Finds that Australian journalists are similar to their United States colleagues in distributions of age, sex, and socioeconomic background, but have less formal education. Shows that Australians have mixed professional and ethical values and are committed both to…

  2. Should there be an Australian Army Association? (United States)


    subscriptions, private donations , and the commercial sales of specialized merchandise. It also determined that a lifetime individual membership would be...following potential sources of income: individual subscriptions, corporate subscriptions, private donations , and the commercial sales of... Armoured Corps RAAF Royal Australian Air Force RAMSI Regional Assistance Mission to Solomon Islands RAN Royal Australian Navy RAR Royal Australian

  3. An Australian view of the uranium market

    International Nuclear Information System (INIS)

    Lloyd, B.


    The subject is covered in sections, entitled as shown. Numerical data are indicated in parenthesis. Introduction (principal Australian uranium deposits, possible Australian production, estimates of world-wide uranium resources and production, estimates of world-wide uranium requirements); Australian marketing policy; commercial considerations; uncertainties affecting the industry, including unnecessary and undesirable government involvement, and supply and demand. (U.K.)

  4. Australian Aboriginal Astronomy - An Overview (United States)

    Norris, Ray P.; Hamacher, Duane W.

    The traditional cultures of Aboriginal Australians include a significant astronomical component, perpetuated through oral tradition, ceremony, and art. This astronomical component includes a deep understanding of the motion of objects in the sky, and this knowledge was used for practical purposes such as constructing calendars. There is also evidence that traditional Aboriginal Australians made careful records and measurements of cyclical phenomena, paid careful attention to unexpected phenomena such as eclipses and meteorite impacts, and could determine the cardinal points to an accuracy of a few degrees.

  5. The Australian solar scene

    Energy Technology Data Exchange (ETDEWEB)

    Cowley, Paul [IT Power Australia (Australia)


    This presentation mainly talks about the actions taken by the Australian country concerning the use of renewable energy and the reduction of the peak load in some areas. In the first part, there are found both the geographical aspects as well as the major political, e.g. Asia-Pacific Partnership on Clean development and Climate. There are also explained the issues related to peak load growth and it is shown a comparison graphic having information about the most used photovoltaic systems. Then, there are mentioned the communities that are testing one of the model photovoltaic systems in order to: reduce the peak load, use the energy in a properly way, reduce the energy cost, among others. Finally, it is succinctly explained the photovoltaic rebate program as well as the use of the off-grid systems, besides, it is given relevant information about those remote communities of Australia and the benefits of the implementation of Bushlight. [Spanish] Esta presentacion trata primordialmente de las acciones, referentes al uso de energia renovable, tomadas por Australia y creadas con el fin de reducir la maxima demanda en algunas regiones de este pais. En la primera parte, se encuentran tanto los aspectos geograficos como los principales aspectos politicos; por ejemplo, la Sociedad Asia-Pacifico para el Desarrollo no Contaminante y el Clima. Asimismo, se da una explicacion acerca de las cuestiones relacionadas al crecimiento de la maxima demanda; ademas, se muestra un cuadro comparativo, que contiene informacion relacionada con los sistemas fotovoltaicos mas utilizados. Despues, se mencionan aquellas comunidades que tienen en periodo de prueba alguno de los modelos fotovoltaicos con el fin de: reducir la maxima demanda, utilizar eficientemente la energia, reducir el costo de la misma, entre otros aspectos mas. Finalmente, se explica escuetamente el programa de reembolso centrado en el uso de sistemas fotovoltaicos, asi como el uso de sistemas asilados de la red; ademas, se

  6. Patterns of multimorbidity in working Australians

    Directory of Open Access Journals (Sweden)

    Ng Shu-Kay


    Full Text Available Abstract Background Multimorbidity is becoming more prevalent. Previously-used methods of assessing multimorbidity relied on counting the number of health conditions, often in relation to an index condition (comorbidity, or grouping conditions based on body or organ systems. Recent refinements in statistical approaches have resulted in improved methods to capture patterns of multimorbidity, allowing for the identification of nonrandomly occurring clusters of multimorbid health conditions. This paper aims to identify nonrandom clusters of multimorbidity. Methods The Australian Work Outcomes Research Cost-benefit (WORC study cross-sectional screening dataset (approximately 78,000 working Australians was used to explore patterns of multimorbidity. Exploratory factor analysis was used to identify nonrandomly occurring clusters of multimorbid health conditions. Results Six clinically-meaningful groups of multimorbid health conditions were identified. These were: factor 1: arthritis, osteoporosis, other chronic pain, bladder problems, and irritable bowel; factor 2: asthma, chronic obstructive pulmonary disease, and allergies; factor 3: back/neck pain, migraine, other chronic pain, and arthritis; factor 4: high blood pressure, high cholesterol, obesity, diabetes, and fatigue; factor 5: cardiovascular disease, diabetes, fatigue, high blood pressure, high cholesterol, and arthritis; and factor 6: irritable bowel, ulcer, heartburn, and other chronic pain. These clusters do not fall neatly into organ or body systems, and some conditions appear in more than one cluster. Conclusions Considerably more research is needed with large population-based datasets and a comprehensive set of reliable health diagnoses to better understand the complex nature and composition of multimorbid health conditions.

  7. Australian black coal statistics 1990

    Energy Technology Data Exchange (ETDEWEB)


    This second edition of Australian black coal statistics replaces the Joint Coal Board's publication 'Black coal in Australia'. It includes an expanded international coal trade supplement. Sections cover resources of black coal, coal supply and demand, coal production, employment and productivity of mines, export data, coal consumption and a directory of producers.

  8. Australian Queer Science Fiction Fans. (United States)

    Kerry, Stephen Craig


    Science fiction (sf) does more than provide a fleeting moment of entertainment; it has many personal and social functions. In addition to offering audiences "romantic escapism" (Gerrold, 1996, pp. 5-6), sf also enables the "postulation of an alternative reality from which to contemplate this one" (Gerrold, 1996, pp. 5-6); as such, it is especially important "for groups which have had limited stakes in the status quo" (Jenkins, 1995, p. 242). To date, no research has been undertaken on the relationship between Australian queers and sf fandom. This article reports the findings of an online survey and explores the psycho-social features of Australian queer sf fans and why they like the genre. While the characteristics of this sample mirror those of Australian queers generally, they also have slightly higher rates of mental illness and are far more likely to state they have "no religion." Furthermore, while enjoying the "sciency" (P10, bisexual woman) aspects of sf, Australian queers also like the "poignant metaphors for our own civilization" (P45, asexual man).

  9. Australian Naturalism and Its Critics. (United States)

    Hyung, Park Sun


    Details the ongoing debate between Australian naturalists and their critics since the publication of C.W. Evers and G. Lakomski's seminal book "Knowing Educational Administration." Examines critics' views in several categories: the coherence concept, coherentism criteria, the naturalistic fallacy, and questions concerning foundations and…

  10. Boomerang - the Australian light source

    International Nuclear Information System (INIS)

    Boldeman, J.W.; Garrett, R.F.


    Full text: The Australian Synchrotron Research Program (ASRP) was one of seven major national research facilities funded by the Federal Government in December 1995. The program provides guaranteed access and travel funds for Australian scientists to conduct synchrotron radiation-based research at two overseas facilities - the Photon Factory at Tsukuba in Japan and the Advanced Photon Source at the Argonne National Laboratory in the US. The Federal Government also provided funding of $100K to carry out a Feasibility Study for an Australian-based facility. This has been completed and included a mission to a number of laboratories overseas that were or had recently constructed a facility that could be considered for Australia. Following the mission, consensus was achieved within the community for the specifications of a proposed Australian facility. The proposed facility, Boomerang, has an energy of 3 GeV, an emittance of 16 nm rad and will be equipped in the first phase with 9 instrument stations. Boomerang will be competitive in performance with other facilities currently under construction overseas. A detailed proposal has been submitted to the Federal Government for funding. No site has been specified in the proposal. The proposal was prepared within the Australian Synchrotron Research Program (ASRP) following extensive consultation with industrial and scientific groups in all Australian states. Valuable contributions have been made by members of all the committees of the ASRP, the Australian synchrotron research community that works through the ASRP and the National Synchrotron Steering Committee. Important contributions have also been made by many industrial groups including consortia in Victoria, Queensland and New South Wales. The input from the ANKA staff at Forschungszentrum Karlsruhe and, in particular. Professor Einfeld has been a critical component. The estimated capital cost of a no frills laboratory has been estimated to be $100M in 1999 dollars. The

  11. Australian Businesses in China: Strategies to Overcome the Cultural Gap


    Mona Chung; Jane Menzies


    This paper indentifies a main barrier when doing business with China, the cultural gap, and provides the strategies that companies can use when entering the Chinese market. This empirical study examined 40 Australian organisations in their activities when entering the Chinese market. Alarmingly after 30 years of attempting to do business in China, companies are still not addressing the issue of cultural differences. Companies are also caught by surprises due to lack of preparation how large t...

  12. The Role of Mining in an Australian Business Cycle Model


    Veroude, Alexandra


    The purpose of this paper is to evaluate a business cycle model that includes a mining sector, with the cyclical variations of the Australian Economy. Large quantities of mineral deposits are found in Australia and there exists high demand for these minerals from developing nations. This results in the mining sector contributing to a high proportion of GDP. Surprisingly, the inclusion of a mining sector has not previously been studied in a business cycle model. Australia is a small open econo...

  13. Australian Consumers' Concerns and Preferences for Food Policy Alternatives


    Umberger, Wendy J.; Scott, Emily M.; Stringer, Randy


    Results from a 2007 Australian consumer survey conducted at a large farmers market are used to explore the hypothesis that consumers who are more concerned about certain types of food labeling information, particularly information related to food production attributes, are more likely to support policies which help develop farmers markets and support mandatory labeling policies. Product information and attributes such as Country-of-Origin, No Growth Hormones Used, Free Range and Animals Treat...

  14. Uranium: a notable Australian decision

    Energy Technology Data Exchange (ETDEWEB)

    Willheim, E


    Australia, with 20% of the world's known reserves, has legislated strict controls for the mining, milling, and export of its uranium deposits. Background information on the environmental inquiry preceding this legislation is reviewed, including a description of the Australian Environmental Protection Act and the Ranger Uranium Environmental Inquiry. A package of six bills implemented the Australian government's decisions on: (1) nuclear proliferation and safeguards, (2) mining in the Kakadu National Park wilderness area, (3) economic and social protection of the Aboriginal people, (4) nuclear waste disposal, (5) security from nuclear terrorism, and (6) environmental controls. The author concludes that the decision and implementing legislation were improved as a result of the public environmental inquiry technique.

  15. Australian synchrotron light source - (boomerang)

    International Nuclear Information System (INIS)

    Boldeman, J.


    The Australian National Synchrotron Light Source - (Boomerang) is to be installed at the Monash University in Victoria. This report provides some background to the proposed facility and discusses aspects of a prospective design. Recently, significant effort was devoted to refining the in principle design and a lattice providing an emittance od 18 nm rad was obtained with a distributed dispersion in the straight section of 0.29m. Exhaustive studies have been made of the economic benefits that would accrue to Australia to Australia following the installation of this facility. This design is a refinement of the design concept presented to the SRI -2000, Berlin (Boldeman, Einfeld et al), to the meeting of the 4th Asian Forum and the Preliminary Design Study presented to the Australian Synchrotron Research Program

  16. Funding emergency care: Australian style. (United States)

    Bell, Anthony; Crilly, Julia; Williams, Ged; Wylie, Kate; Toloo, Ghasem Sam; Burke, John; FitzGerald, Gerry


    The ongoing challenge for ED leaders is to remain abreast of system-wide changes that impact on the day-to-day management of their departments. Changes to the funding model creates another layer of complexity and this introductory paper serves as the beginning of a discussion about the way in which EDs are funded and how this can and will impact on business decisions, models of care and resource allocation within Australian EDs. Furthermore it is evident that any funding model today will mature and change with time, and moves are afoot to refine and contextualise ED funding over the medium term. This perspective seeks to provide a basis of understanding for our current and future funding arrangements in Australian EDs. © 2014 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

  17. Australian Government Balance Sheet Management


    Wilson Au-Yeung; Jason McDonald; Amanda Sayegh


    Since almost eliminating net debt, the Australian Government%u2019s attention has turned to the financing of broader balance sheet liabilities, such as public sector superannuation. Australia will be developing a significant financial asset portfolio in the %u2018Future Fund%u2019 to smooth the financing of expenses through time. This raises the significant policy question of how best to manage the government balance sheet to reduce risk. This paper provides a framework for optimal balance sh...

  18. Meteors in Australian Aboriginal Dreamings (United States)

    Hamacher, Duane W.; Norris, Ray P.


    We present a comprehensive analysis of Australian Aboriginal accounts of meteors. The data used were taken from anthropological and ethnographic literature describing oral traditions, ceremonies, and Dreamings of 97 Aboriginal groups representing all states of modern Australia. This revealed common themes in the way meteors were viewed between Aboriginal groups, focusing on supernatural events, death, omens, and war. The presence of such themes around Australia was probably due to the unpredictable nature of meteors in an otherwise well-ordered cosmos.

  19. Development of genomic microsatellite multiplex PCR using dye-labeled universal primer and its validation in pedigree analysis of Pacific oyster ( Crassostrea gigas) (United States)

    Liu, Ting; Li, Qi; Song, Junlin; Yu, Hong


    There is an increasing requirement for traceability of aquaculture products, both for consumer protection and for food safety. There are high error rates in the conventional traceability systems depending on physical labels. Genetic traceability technique depending on DNA-based tracking system can overcome this problem. Genealogy information is essential for genetic traceability, and microsatellite DNA marker is a good choice for pedigree analysis. As increasing genotyping throughput of microsatellites, microsatellite multiplex PCR has become a fast and cost-effective technique. As a commercially important cultured aquatic species, Pacific oyster Crassostrea gigas has the highest global production. The objective of this study was to develop microsatellite multiplex PCR panels with dye-labeled universal primer for pedigree analysis in C. gigas, and these multiplex PCRs were validated using 12 full-sib families with known pedigrees. Here we developed six informative multiplex PCRs using 18 genomic microsatellites in C. gigas. Each multiplex panel contained a single universal primer M13(-21) used as a tail on each locus-specific forward primer and a single universal primer M13(-21) labeled with fluorophores. The polymorphisms of the markers were moderate, with an average of 10.3 alleles per locus and average polymorphic information content of 0.740. The observed heterozygosity per locus ranged from 0.492 to 0.822. Cervus simulations revealed that the six panels would still be of great value when massive families were analysed. Pedigree analysis of real offspring demonstrated that 100% of the offspring were unambiguously allocated to their parents when two multiplex PCRs were used. The six sets of multiplex PCRs can be an important tool for tracing cultured individuals, population genetic analysis, and selective breeding program in C. gigas.

  20. Homogenised Australian climate datasets used for climate change monitoring

    International Nuclear Information System (INIS)

    Trewin, Blair; Jones, David; Collins; Dean; Jovanovic, Branislava; Braganza, Karl


    Full text: The Australian Bureau of Meteorology has developed a number of datasets for use in climate change monitoring. These datasets typically cover 50-200 stations distributed as evenly as possible over the Australian continent, and have been subject to detailed quality control and homogenisation.The time period over which data are available for each element is largely determined by the availability of data in digital form. Whilst nearly all Australian monthly and daily precipitation data have been digitised, a significant quantity of pre-1957 data (for temperature and evaporation) or pre-1987 data (for some other elements) remains to be digitised, and is not currently available for use in the climate change monitoring datasets. In the case of temperature and evaporation, the start date of the datasets is also determined by major changes in instruments or observing practices for which no adjustment is feasible at the present time. The datasets currently available cover: Monthly and daily precipitation (most stations commence 1915 or earlier, with many extending back to the late 19th century, and a few to the mid-19th century); Annual temperature (commences 1910); Daily temperature (commences 1910, with limited station coverage pre-1957); Twice-daily dewpoint/relative humidity (commences 1957); Monthly pan evaporation (commences 1970); Cloud amount (commences 1957) (Jovanovic etal. 2007). As well as the station-based datasets listed above, an additional dataset being developed for use in climate change monitoring (and other applications) covers tropical cyclones in the Australian region. This is described in more detail in Trewin (2007). The datasets already developed are used in analyses of observed climate change, which are available through the Australian Bureau of Meteorology website ( They are also used as a basis for routine climate monitoring, and in the datasets used for the development of seasonal

  1. Genetic genealogy comes of age: perspectives on the use of deep-rooted pedigrees in human population genetics. (United States)

    Larmuseau, M H D; Van Geystelen, A; van Oven, M; Decorte, R


    In this article, we promote the implementation of extensive genealogical data in population genetic studies. Genealogical records can provide valuable information on the origin of DNA donors in a population genetic study, going beyond the commonly collected data such as residence, birthplace, language, and self-reported ethnicity. Recent studies demonstrated that extended genealogical data added to surname analysis can be crucial to detect signals of (past) population stratification and to interpret the population structure in a more objective manner. Moreover, when in-depth pedigree data are combined with haploid markers, it is even possible to disentangle signals of temporal differentiation within a population genetic structure during the last centuries. Obtaining genealogical data for all DNA donors in a population genetic study is a labor-intensive task but the vastly growing (genetic) genealogical databases, due to the broad interest of the public, are making this job more time-efficient if there is a guarantee for sufficient data quality. At the end, we discuss the advantages and pitfalls of using genealogy within sampling campaigns and we provide guidelines for future population genetic studies. Copyright © 2013 Wiley Periodicals, Inc.

  2. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

    Directory of Open Access Journals (Sweden)

    Naihong Yan

    Full Text Available BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1, ezrin, radixin, moesin (FERM domain-containing 7 (FRMD7 and G protein-coupled receptor 143 (GPR143 genes were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X of GPR143. CONCLUSIONS/SIGNIFICANCE: This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

  3. Relationships among quantitative traits in F3, F4 and F5 wheat hybrids obtained by pedigree and bulk selection

    Directory of Open Access Journals (Sweden)

    Janković Snežana


    Full Text Available Relationships among quantitative traits of wheat were analyzed in parents and their F3, F4 and F5 hybrids. Three female parents (Briscard, Carifen 12 and Rescler were crossed with two male parents (Francuska and PKB-Prelivka. Same crosses were repeated 4 years, from 1996 to 1999. Hybrids were obtained via pedigree and bulk selection. In year 2000 the field experiments were set up with all parental and hybrid material, at the Institute 'PKB INI Agroekonomik', in Padinska Skela, near Belgrade. Six traits were measured: plant height, spike length, number of spikelets per spike, number of grains per spike, 1000 grain weight and grain weight per spike. In parental genotypes, it was found grain mass per spike was in significant and positive correlation with 1000 grain mass and number of grains per spike. As in parents, correlation between grain mass per spike and 1000 grain weight was almost functional in F3, F4 and F5 hybrids. However, correlation between grain mass per spike and number of grains per spike was negative or slight positive in hybrid descendents, what is surprising because it is oppositely to the parents. Similar values of correlation coefficients were found in both applied methods of selection. This fact shows correlations change between generations. Grain mass per spike depends on a 1000 grain mass in both, parental and hybrid generations. Stable relationship between traits could be use for selection of high yielding genotypes.

  4. Transcriptomic Analysis of Induced Pluripotent Stem Cells Derived from Patients with Bipolar Disorder from an Old Order Amish Pedigree.

    Directory of Open Access Journals (Sweden)

    Kwi Hye Kim

    Full Text Available Fibroblasts from patients with Type I bipolar disorder (BPD and their unaffected siblings were obtained from an Old Order Amish pedigree with a high incidence of BPD and reprogrammed to induced pluripotent stem cells (iPSCs. Established iPSCs were subsequently differentiated into neuroprogenitors (NPs and then to neurons. Transcriptomic microarray analysis was conducted on RNA samples from iPSCs, NPs and neurons matured in culture for either 2 weeks (termed early neurons, E or 4 weeks (termed late neurons, L. Global RNA profiling indicated that BPD and control iPSCs differentiated into NPs and neurons at a similar rate, enabling studies of differentially expressed genes in neurons from controls and BPD cases. Significant disease-associated differences in gene expression were observed only in L neurons. Specifically, 328 genes were differentially expressed between BPD and control L neurons including GAD1, glutamate decarboxylase 1 (2.5 fold and SCN4B, the voltage gated type IV sodium channel beta subunit (-14.6 fold. Quantitative RT-PCR confirmed the up-regulation of GAD1 in BPD compared to control L neurons. Gene Ontology, GeneGo and Ingenuity Pathway Analysis of differentially regulated genes in L neurons suggest that alterations in RNA biosynthesis and metabolism, protein trafficking as well as receptor signaling pathways may play an important role in the pathophysiology of BPD.

  5. Development of Pedigree Classification Using Microsatellite and Mitochondrial Markers for Giant Grouper Broodstock (Epinephelus lanceolatus Management in Taiwan

    Directory of Open Access Journals (Sweden)

    Hsiao-Che Kuo


    Full Text Available Most giant groupers in the market are derived from inbred stock. Inbreeding can cause trait depression, compromising the animals’ fitness and disease resistance, obligating farmers to apply increased amounts of drugs. In order to solve this problem, a pedigree classification method is needed. Here, microsatellite and mitochondrial DNA were used as genetic markers to analyze the genetic relationships among giant grouper broodstocks. The 776-bp fragment of high polymorphic mitochondrial D-loop sequence was selected for measuring sibling relatedness. In a sample of 118 giant groupers, 42 haplotypes were categorized, with nucleotide diversity (π of 0.00773 and haplotype diversity (HD of 0.983. Furthermore, microsatellites were used for investigation of parentage. Six out of 33 microsatellite loci were selected as markers based on having a high number of alleles and compliance with Hardy-Weinberg equilibrium. Microsatellite profiles based on these loci provide high variability with low combined non-exclusion probability, permitting practical use in aquaculture. The method described here could be used to improve grouper broodstock management and lower the chances of inbreeding. This approach is expected to lead to production of higher quality groupers with higher disease resistance, thereby reducing the need for drug application.

  6. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. (United States)

    Guo, Wei-Hong; Li, Qiang; Wei, Hong-Yan; Lu, Hong-Yan; Qu, Hui-Qi; Zhu, Mei


    Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 ( AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C > G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband's mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene.

  7. Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China

    Directory of Open Access Journals (Sweden)

    Dong Hua Cao


    Full Text Available OBJECTIVE: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients. Our study was aimed at genetic analysis and prenatal diagnosis of hemophilia B in order to further elucidate the pathogenesis of the hemophilia B pedigree in China. METHODS: Polymerase chain reaction amplification and direct sequencing of all the coding regions was conducted in hemophilia B patients and carriers. Prenatal diagnosis of the proband was conducted at 20 weeks. RESULTS: We identified the novel point mutation 10.389 A>G, located upstream of the intron 3 acceptor site in hemophilia B patients. The fetus of the proband’s cousin was identified as a carrier. CONCLUSION: Our identification of a novel mutation in the F9 gene associated with hemophilia B provides novel insight into the pathogenesis of this genetically inherited disorder and also represents the basis of prenatal diagnosis.

  8. Development of Pedigree Classification Using Microsatellite and Mitochondrial Markers for Giant Grouper Broodstock (Epinephelus lanceolatus) Management in Taiwan (United States)

    Kuo, Hsiao-Che; Hsu, Hao-Hsuan; Chua, Chee Shin; Wang, Ting-Yu; Chen, Young-Mao; Chen, Tzong-Yueh


    Most giant groupers in the market are derived from inbred stock. Inbreeding can cause trait depression, compromising the animals’ fitness and disease resistance, obligating farmers to apply increased amounts of drugs. In order to solve this problem, a pedigree classification method is needed. Here, microsatellite and mitochondrial DNA were used as genetic markers to analyze the genetic relationships among giant grouper broodstocks. The 776-bp fragment of high polymorphic mitochondrial D-loop sequence was selected for measuring sibling relatedness. In a sample of 118 giant groupers, 42 haplotypes were categorized, with nucleotide diversity (π) of 0.00773 and haplotype diversity (HD) of 0.983. Furthermore, microsatellites were used for investigation of parentage. Six out of 33 microsatellite loci were selected as markers based on having a high number of alleles and compliance with Hardy-Weinberg equilibrium. Microsatellite profiles based on these loci provide high variability with low combined non-exclusion probability, permitting practical use in aquaculture. The method described here could be used to improve grouper broodstock management and lower the chances of inbreeding. This approach is expected to lead to production of higher quality groupers with higher disease resistance, thereby reducing the need for drug application. PMID:24796300

  9. Population and pedigree studies reveal a lack of association between the dopamine D sub 2 receptor gene and alcoholism

    Energy Technology Data Exchange (ETDEWEB)

    Bolos, A.M.; Goldman, D.; Brown, G.L. (National Institute on Alcohol Abuse and Alcoholism, Bethesda, MD (USA)); Lucas-Derse, S.; Ramsburg, M. (Program Resources Inc., Frederick, MD (USA))


    Using the dopamine D{sub 2} receptor clone {lambda}hD2G1, Blum et al recently found that the D{sub 2}/Taq 1 allele (A1) was present in 69{percent} of 35 deceased alcoholics but in only 20{percent} of an equal number of controls. To assess this association further, the authors evaluated the D{sub 2}/Taq 1 polymorphism and a single-strand conformation polymorphism detected by polymerase chain reaction and nondenaturing gel electrophoresis (PCR-SSCP) of the 3{prime} noncoding region of the D{sub 2} receptor gene. They studied 40 unrelated white alcoholics, 127 racially matched controls, and two white pedigrees. The Schedule for Affective Disorders and Schizophrenia-Lifetime Version (SADS-L) clinical diagnostic interviews were rated blindly by two clinicians. Alcoholics were subtyped according to age of onset, severity, presence of antisocial personality, and family history. No significant differences in either D{sub 2}/Taq 1 or PCR-SSCP allele frequencies were observed between alcoholics, subpopulations of alcoholics, or controls. The PCR-SSCP polymorphism provided independent information against linkage at the D{sub 2} receptor locus. This study does not support a widespread or consistent association between the D{sub 2} receptor gene and alcoholism.

  10. Australian Muslim civil society organisations: Pathways to social inclusion

    Directory of Open Access Journals (Sweden)

    Nora Shikeen Amath


    Full Text Available There is great interest on issues related to Muslims and Islam; however, a large concentration of the scholarly literature as well as media and political discourses focus predominantly on political issues and actions related to fundamentalism, radicalisation, militancy and terrorism. The dominance of these issues in the discourses does not provide a holistic understanding of Muslims, particularly their role, place and identity as minorities in a Western society. Indeed, we know relatively little about the larger number of Muslim political actors engaged in civil society, especially those involved in creating pathways to social inclusion. Utilising descriptive phenomenology, this paper explores the complex issues of social inclusion and the Australian Muslim communities. Underpinning this discussion is the theory of social capital; as noted by a number of scholars and social policy experts, the theory of social inclusion alone is inadequate and ineffective in creating participation, equality and cohesion. This paper also observes that while many reports and studies provide pragmatic suggestions on how to work towards the social inclusion of Australian Muslims, the concentration on these suggestions tend to focus on how the government can provide these solutions. What is lacking in the literature is the recognition of the Australian Muslim community’s role and agency in initiating and executing the programs needed to address such issues of social exclusion. The 30 unstructured phenomenological interviews demonstrate that Australian MCSOs are proactively engaging with their communities to ensure that they are responding appropriately to these issues. Moreover, they are creating pathways and access for Australian Muslims to better participate, engage in and contribute to mainstream society. In particular, the MCSO actors revealed four themes related to social inclusion: supporting participation in education and training, facilitating participation

  11. Compliance with Corporate Governance Principles: Australian Evidence


    Maryam Safari; Soheila Mirshekary; Victoria Wise


    This study investigates the association between the level of compliance of Australian listed companies with Australian corporate governance principles, in aggregate, and the level of discretionary accruals using the modified Jones model. It is hypothesised that higher levels of compliance would be associated with lower levels of discretionary accruals. Data from a random sample of 214 Australian listed companies for the years 2009 and 2010 were used to test the hypothesis. The results demonst...

  12. The Australian Computational Earth Systems Simulator (United States)

    Mora, P.; Muhlhaus, H.; Lister, G.; Dyskin, A.; Place, D.; Appelbe, B.; Nimmervoll, N.; Abramson, D.


    Numerical simulation of the physics and dynamics of the entire earth system offers an outstanding opportunity for advancing earth system science and technology but represents a major challenge due to the range of scales and physical processes involved, as well as the magnitude of the software engineering effort required. However, new simulation and computer technologies are bringing this objective within reach. Under a special competitive national funding scheme to establish new Major National Research Facilities (MNRF), the Australian government together with a consortium of Universities and research institutions have funded construction of the Australian Computational Earth Systems Simulator (ACcESS). The Simulator or computational virtual earth will provide the research infrastructure to the Australian earth systems science community required for simulations of dynamical earth processes at scales ranging from microscopic to global. It will consist of thematic supercomputer infrastructure and an earth systems simulation software system. The Simulator models and software will be constructed over a five year period by a multi-disciplinary team of computational scientists, mathematicians, earth scientists, civil engineers and software engineers. The construction team will integrate numerical simulation models (3D discrete elements/lattice solid model, particle-in-cell large deformation finite-element method, stress reconstruction models, multi-scale continuum models etc) with geophysical, geological and tectonic models, through advanced software engineering and visualization technologies. When fully constructed, the Simulator aims to provide the software and hardware infrastructure needed to model solid earth phenomena including global scale dynamics and mineralisation processes, crustal scale processes including plate tectonics, mountain building, interacting fault system dynamics, and micro-scale processes that control the geological, physical and dynamic


    NARCIS (Netherlands)


    In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod

  14. A Stalagmite record of Holocene Indonesian-Australian summer monsoon variability from the Australian tropics (United States)

    Denniston, Rhawn F.; Wyrwoll, Karl-Heinz; Polyak, Victor J.; Brown, Josephine R.; Asmerom, Yemane; Wanamaker, Alan D.; LaPointe, Zachary; Ellerbroek, Rebecca; Barthelmes, Michael; Cleary, Daniel; Cugley, John; Woods, David; Humphreys, William F.


    Oxygen isotopic data from a suite of calcite and aragonite stalagmites from cave KNI-51, located in the eastern Kimberley region of tropical Western Australia, represent the first absolute-dated, high-resolution speleothem record of the Holocene Indonesian-Australian summer monsoon (IASM) from the Australian tropics. Stalagmite oxygen isotopic values track monsoon intensity via amount effects in precipitation and reveal a dynamic Holocene IASM which strengthened in the early Holocene, decreased in strength by 4 ka, with a further decrease from ˜2 to 1 ka, before strengthening again at 1 ka to years to levels similar to those between 4 and 2 ka. The relationships between the KNI-51 IASM reconstruction and those from published speleothem time series from Flores and Borneo, in combination with other data sets, appear largely inconsistent with changes in the position and/or organization of the Intertropical Convergence Zone (ITCZ). Instead, we argue that the El Niño/Southern Oscillation (ENSO) may have played a dominant role in driving IASM variability since at least the middle Holocene. Given the muted modern monsoon rainfall responses to most El Niño events in the Kimberley, an impact of ENSO on regional monsoon precipitation over northwestern Australia would suggest non-stationarity in the long-term relationship between ENSO forcing and IASM rainfall, possibly due to changes in the mean state of the tropical Pacific over the Holocene.

  15. Science policy through stimulating scholarly output. Reanalyzing the Australian case

    Energy Technology Data Exchange (ETDEWEB)

    Van den Besselaar, P.; Heyman, U.; Sandström, U.


    There is a long standing debate about perverse effects of performance indicators. A main target is science policy using stimulation of output as instrument. The criticism is to a large extent based on a study of the Australian science policy in the early 1990s. Linda Butler studied the effects and argued that the effect was an growth of output, but also a decrease of average quality of the output. These results have been cited many times. In this paper we reanalyze this case and show that the analysis of Butler was wrong: the new Australian science policy did not only increase the output of the system, but also the quality went up. We discuss the implications. (Author)

  16. GaAs strip detectors: the Australian production program

    International Nuclear Information System (INIS)

    Butcher, K.S.A.; Alexiev, D.


    The Australian High Energy Physics consortium (composed of the University of Melbourne, the University of Sydney and ANSTO) has been investigating the possibility of producing a large area wheel of SI GaAs detectors for the ATLAS detector array. To help assess the extent of Australia's role in this venture a few SI GaAs microstrip detectors are to be manufactured under contract by the CSIRO division of Radiophysics GaAs IC Prototyping Facility. The planned production of the devices is discussed. First, the reasons for producing the detectors here in Australia are examined, then some basic characteristics of the material are considered, and finally details are provided of the design used for the manufacture of the devices. Two sets of detectors will be produced using the standard Glasgow production recipe; SIGaAs and GaN. The Glasgow mask set is being used as a benchmark against which to compare the Australian devices

  17. Testing the Australian Megatsunami Hypothesis (United States)

    Courtney, Claire; Strotz, Luke; Chague-Goff, Catherine; Goff, James; Dominey-Howes, Dale


    In the wake of the 2004 Indian Ocean Tsunami, many countries have been forced to reassess the risk of tsunamis to their coasts. Australia, with relative tectonic stability, has previously been considered at low risk of tsunami inundation. Within written history, only small tsunamis have struck the Australian coast, causing little damage. However, a body of work has arisen that sheds doubt on this apparent low risk, with researchers suggesting that megatsunamis have affected the east Australian coast, in particular southern New South Wales. With proposed run-ups in excess of 100m, recurrence of such megatsunamis in the now densely populated New South Wales coastal region would be catastrophic. The disjunct between historical and geological records demands a thorough re-evaluation of New South Wales sites purported to contain evidence of megatsunamis. In addition, the unique set of diagnostic criteria previously used to identify Australian palaeotsunami deposits is distinctly different to criteria applied to paleotsunamis globally. To address these issues, four coastal lagoonal sites in southern New South Wales were identified for further investigation. In addition to paleotsunami investigation, these sites were selected to provide a geological record of significant events during the Holocene. Site selection was based on small accommodation space and a high preservation potential with back barrier depressions closed to the sea. A suite of diagnostic criteria developed over the past two decades to identify palaeotsunamis have been applied to cores extracted from these sites. Methods used include sedimentary description, grain size analysis, micropalaeontology, geochemistry and a variety of dating techniques such as radiocarbon and lead 210. Preliminary analysis of these results will be presented, with particular focus on sites where there is evidence that could indicate catastrophic saltwater inundation.

  18. Succession Planning in Australian Farming

    Directory of Open Access Journals (Sweden)

    John Hicks


    Full Text Available The theme of this paper is that succession planning in Australian farming is under-developed.It may be linked to economic and social change which suggests that farmers need to adapt togenerational change but this is being resisted or ignored. The implications of this are the slowdecline of family farming, a poor transfer of skills and knowledge to subsequent generationsof farmers in some parts of the agricultural sector and the potential for an extension of thefinancial services industry to develop a more effective raft of succession planning measuresto mitigate the effects of a traditional approach to succession in agriculture.

  19. Comets in Australian Aboriginal Astronomy (United States)

    Hamacher, Duane W.; Norris, Ray P.


    We present 25 accounts of comets from 40 Australian Aboriginal communities, citing both supernatural perceptions of comets and historical accounts of historically bright comets. Historical and ethnographic descriptions include the Great Comets of 1843, 1861, 1901, 1910, and 1927. We describe the perceptions of comets in Aboriginal societies and show that they are typically associated with fear, death, omens, malevolent spirits, and evil magic, consistent with many cultures around the world. We also provide a list of words for comets in 16 different Aboriginal languages.

  20. Aurorae in Australian Aboriginal Traditions (United States)

    Hamacher, Duane W.


    Transient celestial phenomena feature prominently in the astronomical knowledge and traditions of Aboriginal Australians. In this paper, I collect accounts of the Aurora Australis from the literature regarding Aboriginal culture. Using previous studies of meteors, eclipses, and comets in Aboriginal traditions, I anticipate that the physical properties of aurora, such as their generally red colour as seen from southern Australia, will be associated with fire, death, blood, and evil spirits. The survey reveals this to be the case and also explores historical auroral events in Aboriginal cultures, aurorae in rock art, and briefly compares Aboriginal auroral traditions with other global indigenous groups, including the Maori of New Zealand.

  1. Asian and Australian power policy

    International Nuclear Information System (INIS)

    Hammons, T.J.


    This article is a 1995 Summer Meeting panel session summary on infrastructure, interconnections, and electricity exchanges in Asia and Australia. Panelists focused on the present and future state of the electric power sector, future expansion of Asian and Australian power systems, interconnections and power exchanges, cooperation, new capacity, direction of reforming the industry, interstate relations in the fuel and energy complex, and the impact of privatization on electric supply. They addressed electricity and energy issues in both developing and developed Asian countries and in Australia as seen by the United Nations (UN), the World Energy Council (WEC), The World Bank, Japan, Australia, India, China, East Russia, Vietnam, and Malaysia

  2. Career Intentions of Australian Physical Education Teachers (United States)

    Mäkelä, Kasper; Whipp, Peter R.


    The purpose of this study was to investigate Australian physical education (PE) teachers' career intentions and factors influencing their intentions. A sample (N = 234) of Western Australian PE teachers responded to a questionnaire determining PE teachers' work and the primary motivators for intention to leave the profession. Half (51.3%) of the…

  3. The Australian Skills Agenda: Productivity versus Credentialism? (United States)

    Ashenden, Dean


    Discusses the rise of the concept of improved skills recognition in Australian industry. Highlights include the role of industrial relations; the Australian vocational education and training system; recognition, industrial relations, and workplace change; career and training paths; credentials; and future prospects. (10 references) (LRW)

  4. Australian International Food Security Research Centre | IDRC ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Australian International Food Security Research Centre. Australian International Food Security Research Centre. Cultivate Africa's Future. The Cultivate Africa's Future research partnership is designed to support applied research to combat hunger in sub-Saharan Africa by harnessing the potential ...

  5. The sociology of the Australian agricultural environment

    NARCIS (Netherlands)

    Vanclay, F.


    Australian agriculture is in crisis, the terms of trade for agriculture are falling, many farmers have negative incomes, and there is massive structural adjustment with government policy assisting the exit of marginal farmers out of agriculture. Australian governments are gripped with the

  6. Understanding Culture and Diversity: Australian Aboriginal Art (United States)

    Vize, Anne


    Australian Aboriginal culture is rich, complex and fascinating. The art of Aboriginal Australians shows a great understanding of the earth and its creatures. This article presents an activity which has been designed as a multi-age project. The learning outcomes have been written to suit both younger and older students. Aspects of the project could…

  7. Four Management Agendas for Australian Universities (United States)

    Sharrock, Geoff


    In a new mixed economy of higher learning, Australian universities require more strategic management to compete and collaborate sustainably. However, many scholars argue that new modes of university management are at odds with scholarly aims and values. This article examines how Australian universities frame their missions and communicate their…

  8. dbVOR: a database system for importing pedigree, phenotype and genotype data and exporting selected subsets. (United States)

    Baron, Robert V; Conley, Yvette P; Gorin, Michael B; Weeks, Daniel E


    When studying the genetics of a human trait, we typically have to manage both genome-wide and targeted genotype data. There can be overlap of both people and markers from different genotyping experiments; the overlap can introduce several kinds of problems. Most times the overlapping genotypes are the same, but sometimes they are different. Occasionally, the lab will return genotypes using a different allele labeling scheme (for example 1/2 vs A/C). Sometimes, the genotype for a person/marker index is unreliable or missing. Further, over time some markers are merged and bad samples are re-run under a different sample name. We need a consistent picture of the subset of data we have chosen to work with even though there might possibly be conflicting measurements from multiple data sources. We have developed the dbVOR database, which is designed to hold data efficiently for both genome-wide and targeted experiments. The data are indexed for fast retrieval by person and marker. In addition, we store pedigree and phenotype data for our subjects. The dbVOR database allows us to select subsets of the data by several different criteria and to merge their results into a coherent and consistent whole. Data may be filtered by: family, person, trait value, markers, chromosomes, and chromosome ranges. The results can be presented in columnar, Mega2, or PLINK format. dbVOR serves our needs well. It is freely available from . Documentation for dbVOR can be found at .

  9. Elevated risks for amyotrophic lateral sclerosis and blood disorders in Ashkenazi schizophrenic pedigrees suggest new candidate genes in schizophrenia

    Energy Technology Data Exchange (ETDEWEB)

    Goodman, A.B. [Columbia Univ. School of Public Health, New York, NY (United States)


    Among relatives of Ashkenazi schizophrenic probands the rate of amyotrophic lateral sclerosis was 3/1,000, compared to expected population rates of approximately 2/100,000. Relative risk of bleeding disorders, including hematologic cancers, was increased more than three-fold compared to controls. Co-occurrence of motor neuron disease and blood dyscrasias, accompanied by psychosis, has long been recognized. A virally-mediated autoimmune pathogenesis has been proposed. However, the familial co-occurrence of these three disease entities raises the possibility that the disease constellation be considered as a manifestation of a common underlying genetic defect. Such expansion of the spectrum of affectation might enhance the power of both candidate gene and linkage studies. Based on these findings, the loci suggested as candidate regions in schizophrenia include a potential hot spot on chromosome 21q21-q22, involving the superoxide dismutase and amyloid precursor protein genes. Alternatively, genes on other chromosomes involved in the expression, transcription, or regulation of these genes, or associated with the illnesses of high frequency in these pedigrees are suggested. Candidates include the choroid plexus transport protein, transthyretin at 18q11.2-q12.1; the t(14;18)(q22;21) characterizing B-cell lymphoma-2, the most common form of hematologic cancer; and the 14q24 locus of early onset Alzheimer`s disease, c-Fos, transforming growth factor beta 3, and heat shock protein A2. Expression of hematologic cancers and the suggested candidate genes are known to involve retinoid pathways, and retinoid disregulation has been proposed as a cause of schizophrenia. 67 refs., 2 figs., 1 tab.

  10. Technologies, Democracy and Digital Citizenship: Examining Australian Policy Intersections and the Implications for School Leadership

    Directory of Open Access Journals (Sweden)

    Kathryn Moyle


    Full Text Available There are intersections that can occur between the respective peak Australian school education policy agendas. These policies include the use of technologies in classrooms to improve teaching and learning as promoted through the Melbourne Declaration on Educational Goals for Young Australians and the Australian Curriculum; and the implementation of professional standards as outlined in the Australian Professional Standard for Principals and the Australian Professional Standards for Teachers. These policies create expectations of school leaders to bring about change in classrooms and across their schools, often described as bringing about ‘quality teaching’ and ‘school improvement’. These policies indicate that Australian children should develop ‘democratic values’, and that school principals should exercise ‘democratic values’ in their schools. The national approaches to the implementation of these policies however, is largely silent on promoting learning that fosters democracy through education, or about making connections between teaching and learning with technologies, school leadership and living in a democracy. Yet the policies promote these connections and alignments. Furthermore, understanding democratic values, knowing what is a democracy, and being able to use technologies in democratic ways, has to be learned and practiced. Through the lens of the use of technologies to build digital citizenship and to achieve democratic processes and outcomes in schools, these policy complexities are examined in order to consider some of the implications for school leadership.

  11. It's Special and It's Specific: Understanding the Early Childhood Education Experiences and Expectations of Young Indigenous Australian Children and Their Parents (United States)

    Martin, Karen L.


    Whilst early childhood education is regarded as important for young Indigenous Australians and it has been a feature of policy since the 1960s, it does not receive the same attention as compulsory schooling for Indigenous Australian students. A serious lack of large-scale research contributes to the devaluing of early childhood education for young…

  12. Australian Hospital-Based Nurse Educators' Perceptions of Their Role. (United States)

    Thornton, Karleen


    This article presents the findings from a phenomenological study that explored the understandings of Australian hospital-based nurse educators' experiences of their role. Purposive sampling resulted in 11 nurse educators from four large metropolitan hospitals within an Australian jurisdiction. The participants were asked how they understand their role and translate that understanding into practice. Thematic analysis identified four themes representative of nurse educators' understanding of their role: Becoming an Educator, Capability Building, Panacea, and Tension. A coherent picture emerged from subthemes highlighting that nurse educators were undervalued and value is added. Being undervalued and value adding are translated into nurse educator practice as resilience, being educationally literate, investing, and having a presence. This article identifies a gap in knowledge related to understanding the nurse educator role and informs recruitment and subsequent retention of nurses into nurse educator roles at a time when the nursing workforce in Australia and internationally is about to experience a major shortfall. Findings are specific to the Australian context and are not necessarily generalizable to other hospital jurisdictions. J Contin Educ Nurs. 2018;49(6):274-281. Copyright 2018, SLACK Incorporated.

  13. The Australian stock market development: Prospects and challenges

    Directory of Open Access Journals (Sweden)

    Sheilla Nyasha


    Full Text Available This paper highlights the origin and development of the Australian stock market. The country has three major stock exchanges, namely: the Australian Securities Exchange Group, the National Stock Exchange of Australia, and the Asia-Pacific Stock Exchange. These stock exchanges were born out of a string of stock exchanges that merged over time. Stock-market reforms have been implemented since the period of deregulation, during the 1980s; and the Exchanges responded largely positively to these reforms. As a result of the reforms, the Australian stock market has developed in terms of the number of listed companies, the market capitalisation, the total value of stocks traded, and the turnover ratio. Although the stock market in Australia has developed remarkably over the years, and was spared by the global financial crisis of the late 2000s, it still faces some challenges. These include the increased economic uncertainty overseas, the downtrend in global financial markets, and the restrained consumer confidence in Australia.

  14. Evaluating Junior Secondary Science Textbook Usage in Australian Schools (United States)

    McDonald, Christine V.


    A large body of research has drawn attention to the importance of providing engaging learning experiences in junior secondary science classes, in an attempt to attract more students into post-compulsory science courses. The reality of time and resource constraints, and the high proportion of non-specialist science teachers teaching science, has resulted in an overreliance on more transmissive pedagogical tools, such as textbooks. This study sought to evaluate the usage of junior secondary science textbooks in Australian schools. Data were collected via surveys from 486 schools teaching junior secondary (years 7-10), representing all Australian states and territories. Results indicated that most Australian schools use a science textbook in the junior secondary years, and textbooks are used in the majority of science lessons. The most highly cited reason influencing choice of textbook was layout/colour/illustrations, and electronic technologies were found to be the dominant curricula material utilised, in addition to textbooks, in junior secondary science classes. Interestingly, the majority of respondents expressed high levels of satisfaction with their textbooks, although many were keen to stress the subsidiary role of textbooks in the classroom, emphasising the textbook was `one' component of their teaching repertoire. Importantly, respondents were also keen to stress the benefits of textbooks in supporting substitute teachers, beginning teachers, and non-specialist science teachers; in addition to facilitating continuity of programming and staff support in schools with high staff turnover. Implications from this study highlight the need for high quality textbooks to support teaching and learning in Australian junior secondary science classes.

  15. Australian natural gas market outlook

    International Nuclear Information System (INIS)



    A new study of the Australian natural gas industry by leading Australian economics and policy consultancy ACIL Tasman highlights the significant supply and demand side uncertainties currently facing the industry. The ACIL Tasman 'Australian Gas Market Review and Outlook 2004' study presents modelling results for three supply/demand scenarios in Eastern Australia and two in Western Australia. The results show that, even under moderate assumptions about future levels of gas demand growth, major supply-side investment is likely to be needed over the next ten to fifteen years. The base supply/demand scenario for Eastern Australia and Northern Territory, illustrated in Figure 1, shows that even allowing for substantial new discoveries in existing production basins and major expansion of coal seam methane production, in the absence of a northern gas connection to the eastern states (Timor Sea or PNG Highlands) a significant supply gap will begin to emerge from around 2013. The study identifies several supply-side options for Eastern Australia - new discoveries in the established production provinces in Bass Strait and Central Australia; greenfield developments such as the Otway Basin offshore from Victoria and South Australia; continuing expansion of coal seam methane production in Queensland and New South Wales; and gas from Papua New Guinea, Timor Sea or from the North West Shelf region delivered via a trans-continental pipeline. The study concludes that it is unlikely that any single option will suffice to meet future demand. Almost inevitably, a combination of these sources will be needed if anticipated growth opportunities are to be met. With regard to prices, the study shows that in the short to medium term the outlook is for some real reductions in wholesale prices in most regional markets. This reflects increasing levels of upstream competition and declining real costs of pipeline transportation. However in the longer term, supply-side constraints will tend to

  16. An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations

    Energy Technology Data Exchange (ETDEWEB)

    Sorrenson, Brie; Suetani, Rachel J. [Department of Biochemistry, University of Otago, Dunedin (New Zealand); Bickley, Vivienne M.; George, Peter M. [Clinical Biochemistry, Canterbury Health Laboratories, Christchurch (New Zealand); Williams, Michael J.A. [Department of Medicine, University of Otago, Dunedin (New Zealand); Scott, Russell S. [Lipid and Diabetes Research Group, Christchurch Hospital (New Zealand); McCormick, Sally P.A., E-mail: [Department of Biochemistry, University of Otago, Dunedin (New Zealand)


    Highlights: {yields} Characterisation of an ABCA1 truncation mutant, C978fsX988, in a pedigree with three ABCA1 mutations. {yields} Functional analysis of C978fsX988 in patient fibroblasts and HEK 293 cells shows no cholesterol efflux function. {yields} Allele-specific quantification shows C978fsX988 not expressed at mRNA level in fibroblasts. {yields} Unlike other ABCA1 truncations, C978fsX988 mutant shows no dominant negative effect at mRNA or protein level. -- Abstract: The ATP binding cassette transporter (ABCA1) A1 is a key determinant of circulating high density lipoprotein cholesterol (HDL-C) levels. Mutations in ABCA1 are a major genetic contributor to low HDL-C levels within the general population. Following the finding of three different ABCA1 mutations, p.C978fsX988, p.T1512M and p.N1800H in a subject with hypoalphalipoproteinemia, we aimed to establish whether the p.C978fsX988 truncation exerted a dominant negative effect on the full-length ABCA1 alleles within family members as has been reported for other ABCA1 truncations. Characterisation of the p.C978fsX988 mutant in transfected HEK 293 cells showed it to be expressed as a GFP fusion protein but lacking in cholesterol efflux function. This was in keeping with results from cholesterol efflux assays in the fibroblasts of p.C978fsX988 carriers which also showed impaired efflux. Allele- specific quantification of p.C978fsX988 mRNA and analysis of ABCA1 protein levels in the fibroblasts of p.C978fsX988 heterozygotes showed negligible levels of mRNA and protein expression. There was no evidence of a dominant negative effect on wildtype or p.N1800H protein levels. We conclude that in the case of the p.C978fsX988 truncated mutant a lack of expression precludes it from having a dominant negative effect.

  17. QTL mapping in white spruce: gene maps and genomic regions underlying adaptive traits across pedigrees, years and environments (United States)


    Background The genomic architecture of bud phenology and height growth remains poorly known in most forest trees. In non model species, QTL studies have shown limited application because most often QTL data could not be validated from one experiment to another. The aim of our study was to overcome this limitation by basing QTL detection on the construction of genetic maps highly-enriched in gene markers, and by assessing QTLs across pedigrees, years, and environments. Results Four saturated individual linkage maps representing two unrelated mapping populations of 260 and 500 clonally replicated progeny were assembled from 471 to 570 markers, including from 283 to 451 gene SNPs obtained using a multiplexed genotyping assay. Thence, a composite linkage map was assembled with 836 gene markers. For individual linkage maps, a total of 33 distinct quantitative trait loci (QTLs) were observed for bud flush, 52 for bud set, and 52 for height growth. For the composite map, the corresponding numbers of QTL clusters were 11, 13, and 10. About 20% of QTLs were replicated between the two mapping populations and nearly 50% revealed spatial and/or temporal stability. Three to four occurrences of overlapping QTLs between characters were noted, indicating regions with potential pleiotropic effects. Moreover, some of the genes involved in the QTLs were also underlined by recent genome scans or expression profile studies. Overall, the proportion of phenotypic variance explained by each QTL ranged from 3.0 to 16.4% for bud flush, from 2.7 to 22.2% for bud set, and from 2.5 to 10.5% for height growth. Up to 70% of the total character variance could be accounted for by QTLs for bud flush or bud set, and up to 59% for height growth. Conclusions This study provides a basic understanding of the genomic architecture related to bud flush, bud set, and height growth in a conifer species, and a useful indicator to compare with Angiosperms. It will serve as a basic reference to functional and

  18. Compliance with Corporate Governance Principles: Australian Evidence

    Directory of Open Access Journals (Sweden)

    Maryam Safari


    Full Text Available This study investigates the association between the level of compliance of Australian listed companies with Australian corporate governance principles, in aggregate, and the level of discretionary accruals using the modified Jones model. It is hypothesised that higher levels of compliance would be associated with lower levels of discretionary accruals. Data from a random sample of 214 Australian listed companies for the years 2009 and 2010 were used to test the hypothesis. The results demonstrate a significant negative relationship indicating that companies with higher levels of compliance engage in lower levels of earnings management via discretionary accruals.

  19. A new opportunity for Australian uranium

    International Nuclear Information System (INIS)


    This study analyses the outlook for the world uranium industry and includes projections of uranium demand, supply and prices over the next decade and a comparison with other forecasts. The potential increases in Australian output are quantified, under both continuation of the three mine policy and an open mine policy, as well as the potential impact on the world uranium market, using the well known ORANI model of the Australian economy. It is estimated that Australian output could almost double by 2004 if the three mine policy were abolished. 53 refs., 20 tabs., 6 figs

  20. A new opportunity for Australian uranium

    Energy Technology Data Exchange (ETDEWEB)



    This study analyses the outlook for the world uranium industry and includes projections of uranium demand, supply and prices over the next decade and a comparison with other forecasts. The potential increases in Australian output are quantified, under both continuation of the three mine policy and an open mine policy, as well as the potential impact on the world uranium market, using the well known ORANI model of the Australian economy. It is estimated that Australian output could almost double by 2004 if the three mine policy were abolished. 53 refs., 20 tabs., 6 figs.

  1. Preventing proliferation : the role of Australian uranium

    International Nuclear Information System (INIS)

    Falk, J.


    The uranium debate has polarised Australian society for almost a decade. From 1977 until just before it achieved office in 1983 the Australia Labor Party took a position of strong opposition to uranium exports. The Australian Council of Trade Unions, the Australian Democrats, the Nuclear Disarmament Party, and many other organisations and sections of the community continue to oppose uranium mining and exports. Australia's uranium is currently exported for use in the commercial nuclear fuel cycle. But as the nuclear plants which are part of this cycle spread across the world, the risk rises that they will provide the cover and facilities for increasing numbers of countries to move towards nuclear weapons capability

  2. Australians' attitudes to nuclear disarmament

    International Nuclear Information System (INIS)

    Clark, A.W.; Trahair, R.C.S.; Powell, R.J.; Walker, R.M.


    The results of a series of surveys of 2900 Australians show that some 80 per cent favour nuclear disarmament. The nuclear disarmament view is broad-based, for example it cuts across differences in age, sex and education. However the view is more common among people towards the left of the political spectrum who view the world as benign rather than hostile and who consider stockpiles can be reduced by small, reciprocated and supervised reductions. Between 2.5 per cent and 5.5 per cent of respondents act to bring about nuclear disarmament. The findings support and extend results from studies outside Australia showing that attitudes favouring nuclear disarmament are distributing themselves widely

  3. Population and Australian development assistance. (United States)

    Jones, R


    Australia's position on international population issues is consistent with the major international statements on population: the World Population Plan of Action (1974), the Mexico City Declaration (1984), and the Amsterdam Declaration (1989). Australia's policy emphasizes the importance of population policies as an integral part of social, economic, and cultural development aimed at improving the quality of life of the people. Factors that would promote smaller families include improving economic opportunities, old-age security, education and health (particularly for women), as well as improving the accessibility and quality of family planning services. The quality of care approach is directly complementary to the Australian International Development Assistance Bureau (AIDAB)'s Women-In-Development Policy and its Health Policy, which stresses the theme of Women And Their Children's Health (WATCH). Australia's support for population programs and activities has increased considerably over the last few years. Total assistance for the year 1990/91 was around $7 million out of a total aid program of $1216 million. In recent years AIDAB has funded family planning activities or health projects with family planning components in a number of countries in the Asia-Pacific region. In the South Pacific region AIDAB has funded a reproductive health video project taking into consideration the cultural sensitivities and customs of the peoples of the region. AIDAB has supported a UN Population Fund project in Thailand that aims to strengthen the capacity of the National Statistical Office to collect population data. The US currently accounts for around 40% of all population-related development assistance to improve the health of women and children through family planning. The other major donors are Japan, the Scandinavian countries, and the Netherlands. Funding for population has been a relatively low percentage of overall development assistance budgets in OECD countries. In the

  4. Two QTL characterized for soft scald and soggy breakdown in apple (Malus × domestica) through pedigree-based analysis of a large population of interconnected families

    NARCIS (Netherlands)

    Howard, Nicholas P.; Weg, van de Eric; Tillman, John; Tong, Cindy B.S.; Silverstein, Kevin A.T.; Luby, James J.


    Soft scald and soggy breakdown are important postharvest physiological disorders of apple (Malus × domestica). ‘Honeycrisp’ and some of its offspring are particularly susceptible to developing these disorders. The purpose of this study was to identify molecular markers associated with high

  5. Large-scale analysis of pedigree and sperm-typing data reveals PRDM9 allele-specific recombination maps in cattle (United States)

    Meiotic recombination is a major driving force in promoting genetic and phenotypic variations in sexually reproducing organisms. Although PRDM9 is known to modulate the binding-specificity and location of recombination hotspots in humans and mice, its role, especially in domesticated animals like ca...

  6. Competition and trade in Australian gas markets

    International Nuclear Information System (INIS)

    Holmes, Leanne; Mander, Sally


    Although Australia has large gas reserves, the bulk of reserves (about 80 per cent) are located on the North West Shelf, off Western Australia. On the other had, the major demand centres are located in the south east of the country. The relative scarcity of proven gas reserves close to major markets has meant that governments in the state and territories with reserves have a strong vested interest in the future use of the gas. Equally, governments in states and territories that do not have gas reserves are interested in securing future supplies. The scope for increasing competition and trade in Australian gas markets depends on a number of features of the industry. These include: the characteristics of the resource, the structure of supply including the presence of natural monopolies, the nature and extent of upstream or downstream integration of firms and the presence of long term contracts - the characteristics of gas demand, and the regulatory and policy framework. The main purpose in this article is to review the economic factors driving natural gas markets in Australia, highlighting the factors influencing competition and trade. Against this background, some options for reform are also examined. 30 refs., 6 figs

  7. A threshold model for Australian Stock Exchange equities (United States)

    Bertram, William K.


    In this paper, we present a threshold model to describe the phenomena of zero return enhancement that is present in Australian Stock Exchange data. We examine the intraday behaviour of the ASX data and construct a new measure for the market activity using principal component analysis. We use this measure to create a business time scale that keeps the level of zero return enhancement constant throughout trading hours. Operating in this new time scale we fit the model to data for small and large time scales and find that the model affords an excellent approximation of the distribution of stock returns.

  8. Trends in BMI of urban Australian adults, 1980-2000

    DEFF Research Database (Denmark)

    Walls, Helen L; Wolfe, Rory; Haby, Michelle M


    of 7.4 kg/m2 at the higher end for women aged 55-64 years. While the prevalence of obesity (BMI >or= 30 kg/m2) doubled, the prevalence of obesity class III (BMI >or= 40 kg/m2) increased fourfold. CONCLUSIONS: BMI in urban Australian adults has increased and its distribution has become increasingly...... right-skewed. This has resulted in a large increase in the prevalence of obesity, particularly the more severe levels of obesity. It will be important to monitor changes in the different classes of obesity and the extent to which obesity interventions both shift the BMI distribution leftwards...

  9. Australian Mining's product register 1990-91

    Energy Technology Data Exchange (ETDEWEB)


    The Australian Minings' Product Register 1990-91 contains an industry review, resource assessment, mineral industry statistics, directory of exploration and mining companies, buyers guide and directory of consultants.

  10. Comparative growth performance of different Australian ...

    African Journals Online (AJOL)

    Comparative growth performance of different Australian provenances and local land ... and Ubiri in the West Usambara Mountains (WUM), North East Tanzania. ... with local land races for subsequent management as seed production stands.

  11. Responding to Indigenous Australian Sexual Assault

    Directory of Open Access Journals (Sweden)

    Janya McCalman


    Full Text Available Indigenous Australians experience a high prevalence of sexual assault, yet a regional sexual assault service found few Indigenous Australians accessed their services. This prompted exploration of how its services might be improved. A resultant systematic search of the literature is reported in this article. Seven electronic databases and seven websites were systematically searched for peer reviewed and gray literature documenting responses to the sexual assault of Indigenous Australians. These publications were then classified by response type and study type. Twenty-three publications met the inclusion criteria. They included studies of legal justice, media, and community-based and mainstream service responses for Indigenous survivors and perpetrators. We located program descriptions, measurement, and descriptive research, but no intervention studies. There is currently insufficient evidence to confidently prescribe what works to effectively respond to Indigenous Australian sexual assault. The study revealed an urgent need for researchers, Indigenous communities, and services to work together to develop the evidence base.

  12. 1980 Australian coal conference. Conference papers

    Energy Technology Data Exchange (ETDEWEB)


    Papers were presented under the following headings: supply and demand for coal; government policies - coal development; mining finance and taxation; Australian coal mining practices; research and development; infrastructure and transportation; legislation and safe working practices; and industrial relations.

  13. Career intentions of Australian physical education teachers


    Mäkelä, Kasper; Whipp, Peter R


    The purpose of this study was to investigate Australian physical education (PE) teachers’ career intentions and factors influencing their intentions. A sample (N = 234) of Western Australian PE teachers responded to a questionnaire determining PE teachers’ work and the primary motivators for intention to leave the profession. Half (51.3%) of the respondents wanted a change from their current PE teacher job and 39.8% were intending to leave PE teaching. The most frequent reasons for wanting to...

  14. ANSTO: Australian Nuclear Science and Technology Organization

    International Nuclear Information System (INIS)


    The Australian Nuclear Science and Technology Organization conducts or is engaged in collaborative research and development in the application of nuclear science and associated technology. Through its Australian radio-isotopes unit, it markets radioisotopes, their products and other services for nuclear medicine industry and research. It also operates national nuclear facilities ( HIFAR and Moata research reactors), promote training, provide advice and disseminates information on nuclear science and technology. The booklet briefly outlines these activities. ills

  15. Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. (United States)

    Bai, Ying; Chen, Yibing; Kong, Xiangdong


    It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI. A novel 22,110 bp deletion comprising AVPR2 and ARH4GAP4 genes was identified by PCR mapping, long range PCR and sanger sequencing. The deletion happened perhaps due to the 4-bp homologous sequence (TTTT) at the junctions of both 5' and 3' breakpoints. The gross deletion co-segregates with NDI. After analyzing available data of putative clinical signs of AVPR2 and ARH4GAP4 deletion, we reconsider the potential role of AVPR2 deletion in short stature. We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation.

  16. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

    Directory of Open Access Journals (Sweden)

    Catherine Cukras

    Full Text Available Retinitis Pigmentosa (RP is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous splice site variant (c.111+1G>A in the gene encoding retinol binding protein 4 (RBP4. This change segregated with early onset, progressive, and severe autosomal recessive retinitis pigmentosa (arRP in an eight member consanguineous pedigree of European ancestry. Additionally, one patient exhibited developmental abnormalities including patent ductus arteriosus and chorioretinal and iris colobomas. The second patient developed acne from young age and extending into the 5(th decade. Both patients had undetectable levels of RBP4 in the serum suggesting that this mutation led to either mRNA or protein instability resulting in a null phenotype. In addition, the patients exhibited severe vitamin A deficiency, and diminished serum retinol levels. Circulating transthyretin levels were normal. This study identifies the RBP4 splice site change as the cause of RP in this pedigree. The presence of developmental abnormalities and severe acne in patients with retinal degeneration may indicate the involvement of genes that regulate vitamin A absorption, transport and metabolism.

  17. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. (United States)

    Cukras, Catherine; Gaasterland, Terry; Lee, Pauline; Gudiseva, Harini V; Chavali, Venkata R M; Pullakhandam, Raghu; Maranhao, Bruno; Edsall, Lee; Soares, Sandra; Reddy, G Bhanuprakash; Sieving, Paul A; Ayyagari, Radha


    Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous splice site variant (c.111+1G>A) in the gene encoding retinol binding protein 4 (RBP4). This change segregated with early onset, progressive, and severe autosomal recessive retinitis pigmentosa (arRP) in an eight member consanguineous pedigree of European ancestry. Additionally, one patient exhibited developmental abnormalities including patent ductus arteriosus and chorioretinal and iris colobomas. The second patient developed acne from young age and extending into the 5(th) decade. Both patients had undetectable levels of RBP4 in the serum suggesting that this mutation led to either mRNA or protein instability resulting in a null phenotype. In addition, the patients exhibited severe vitamin A deficiency, and diminished serum retinol levels. Circulating transthyretin levels were normal. This study identifies the RBP4 splice site change as the cause of RP in this pedigree. The presence of developmental abnormalities and severe acne in patients with retinal degeneration may indicate the involvement of genes that regulate vitamin A absorption, transport and metabolism.

  18. Pedigree analysis in the Austrian Noriker draught horse: genetic diversity and the impact of breeding for coat colour on population structure. (United States)

    Druml, T; Baumung, R; Sölkner, J


    The pedigree of the current Austrian Noriker draught horse population comprising 2808 horses was traced back to the animals considered as founders of this breed. In total, the number of founders was 1991, the maximum pedigree length was 31 generations, with an average of 12.3 complete generations. Population structure in this autochthonous Austrian draught horse breed is defined by seven breeding regions (Carinthia, Lower Austria, Salzburg, Styria, Tyrol, Upper Austria and Vorarlberg) or through six coat colour groups (Bay, Black, Chestnut, Roan, Leopard, Tobiano). Average inbreeding coefficients within the breeding regions ranged from 4.5% to 5.5%; for the colour groups, the coefficients varied from 3.5% to 5.9%. Other measures of genetic variability like the effective number of founders, ancestors and founder genomes revealed a slightly different genetic background of the subpopulations. Average co-ancestries between and within breeding areas showed that the Salzburg population may be considered as the nucleus or original stock whereas all other subpopulations showed high relationship to horses from Salzburg. The target of draught horse breeding in the 21st century does not meet the breeding concept of maximizing genetic gains any more. Stabilizing selection takes place. In this study, we show that demographic factors as well as structure given by different coat colours helped to maintain genetic diversity in this endangered horse breed.

  19. Becoming-Speckled Warbler: Re/Creating Australian Natural History Pedagogy (United States)

    Stewart, Alistair


    The speckled warbler and other woodland birds of south-eastern Australia have declined dramatically since European settlement; many species are at risk of becoming locally and/or nationally extinct. Coincidently, Australian environmental education research of the last decade has largely been silent on the development of pedagogy that reflects the…

  20. Organisational and Occupational Boundaries in Australian Universities: The Hierarchical Positioning of Female Professional Staff (United States)

    Simpson, Andrea; Fitzgerald, Tanya


    The effects of gender on organisational structures for professional university staff have been largely overlooked in the literature. Using data from one Australian university, we examine the location of professional female staff in the organisational hierarchy. Our analysis indicated that significant gendered segregation existed within and across…

  1. Comprehensive for Who? Neoliberal Directives in Australian "Comprehensive" Sexuality Education and the Erasure of GLBTIQ Identity (United States)

    Shannon, Barrie


    At present, Australian sex(uality) education curricula aim to equip students with information which facilitates "healthy" sexual choices as they develop. However, this is not neutral information, but rather socially and culturally regulated discourse which encodes a normative binary of sexuality. The largely US-focused sexuality…

  2. Preparing for Portfolio Careers in Australian Music: Setting a Research Agenda (United States)

    Bartleet, Brydie-Leigh; Bennett, Dawn; Bridgstock, Ruth; Draper, Paul; Harrison, Scott; Schippers, Huib


    In the twenty-first century, Australian musicians increasingly maintain "portfolio" careers, in which they combine diverse employment arrangements and activities. Often, these incorporate industry sectors outside of music. This career pattern is widespread but not well understood, largely because of the limitations of existing research.…

  3. Globalisation, Transnational Academic Mobility and the Chinese Knowledge Diaspora: An Australian Case Study (United States)

    Yang, Rui; Welch, Anthony R.


    The master discourses of economic globalisation and the knowledge economy each cite knowledge diasporas as vital "trans-national human capital". Based on a case study of a major Australian university, this article examines the potential to deploy China's large and highly-skilled diaspora in the service of Chinese and Australian…

  4. Longitudinal Surveys of Australian Youth (LSAY): 1995 Cohort: User Guide. Technical Report 49 (United States)

    National Centre for Vocational Education Research (NCVER), 2009


    The Longitudinal Surveys of Australian Youth (LSAY) is a research program that tracks young people as they move from school into further study, work and other destinations. It uses large, nationally representative samples of young people to collect information about education and training, work, and social development. It includes surveys…

  5. The Australian terrestrial carbon budget

    Directory of Open Access Journals (Sweden)

    V. Haverd


    Full Text Available This paper reports a study of the full carbon (C-CO2 budget of the Australian continent, focussing on 1990–2011 in the context of estimates over two centuries. The work is a contribution to the RECCAP (REgional Carbon Cycle Assessment and Processes project, as one of numerous regional studies. In constructing the budget, we estimate the following component carbon fluxes: net primary production (NPP; net ecosystem production (NEP; fire; land use change (LUC; riverine export; dust export; harvest (wood, crop and livestock and fossil fuel emissions (both territorial and non-territorial. Major biospheric fluxes were derived using BIOS2 (Haverd et al., 2012, a fine-spatial-resolution (0.05° offline modelling environment in which predictions of CABLE (Wang et al., 2011, a sophisticated land surface model with carbon cycle, are constrained by multiple observation types. The mean NEP reveals that climate variability and rising CO2 contributed 12 ± 24 (1σ error on mean and 68 ± 15 TgC yr−1, respectively. However these gains were partially offset by fire and LUC (along with other minor fluxes, which caused net losses of 26 ± 4 TgC yr−1 and 18 ± 7 TgC yr−1, respectively. The resultant net biome production (NBP is 36 ± 29 TgC yr−1, in which the largest contributions to uncertainty are NEP, fire and LUC. This NBP offset fossil fuel emissions (95 ± 6 TgC yr−1 by 38 ± 30%. The interannual variability (IAV in the Australian carbon budget exceeds Australia's total carbon emissions by fossil fuel combustion and is dominated by IAV in NEP. Territorial fossil fuel emissions are significantly smaller than the rapidly growing fossil fuel exports: in 2009–2010, Australia exported 2.5 times more carbon in fossil fuels than it emitted by burning fossil fuels.

  6. An island apart? Risks and prices in the Australian cryptomarket drug trade. (United States)

    Cunliffe, Jack; Martin, James; Décary-Hétu, David; Aldridge, Judith


    Australia has a reputation as an anomaly with regard to cryptomarket drug trading, with seemingly disproportionately high levels of activity given its relatively small size, high prices and anecdotal accounts of it being a destination where many foreign-based vendors will not sell. This paper aims to investigate these claims from a risk and prices perspective. By analysing data for over 60,000 drug products available for purchase from eight cryptomarkets in January 2016 this work builds a descriptive picture of the Australian online market in comparison to the rest of the world, before moving onto analyse the prices of drugs available to Australian consumers, both online and though conventional drug supply routes. Results show that the Australian online illicit drugs market is of considerable size, internally isolated and with methamphetamine sales being particularly large by comparison to other countries. Australian cryptomarket vendors sell drugs at significantly higher prices than those listed by their foreign counterparts. Online prices are however broadly comparable to street prices, with the exception of methamphetamine where prices appear to be much lower online. These findings indicate that the perceived stringency of Australian border protection inadvertently increases the competitiveness and local market share of domestic cryptomarket vendors via a consumer side 'risk tariff', challenging the traditionally vendor-oriented drugs risk and prices framework. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Smoking prevalence trends in Indigenous Australians, 1994-2004: a typical rather than an exceptional epidemic

    Directory of Open Access Journals (Sweden)

    Thomas David P


    Full Text Available Abstract Background In Australia, national smoking prevalence has successfully fallen below 20%, but remains about 50% amongst Indigenous Australians. Australian Indigenous tobacco control is framed by the idea that nothing has worked and a sense of either despondency or the difficulty of the challenge. Methods This paper examines the trends in smoking prevalence of Australian Indigenous men and women aged 18 and over in three large national cross-sectional surveys in 1994, 2002 and 2004. Results From 1994 to 2004, Indigenous smoking prevalence fell by 5.5% and 3.5% in non-remote and remote men, and by 1.9% in non-remote women. In contrast, Indigenous smoking prevalence rose by 5.7% in remote women from 1994 to 2002, before falling by 0.8% between 2002 and 2004. Male and female Indigenous smoking prevalences in non-remote Australia fell in parallel with those in the total Australian population. The different Indigenous smoking prevalence trends in remote and non-remote Australia can be plausibly explained by the typical characteristics of national tobacco epidemic curves, with remote Indigenous Australia just at an earlier point in the epidemic. Conclusion Reducing Indigenous smoking need not be considered exceptionally difficult. Inequities in the distribution of smoking related-deaths and illness may be reduced by increasing the exposure and access of Indigenous Australians, and other disadvantaged groups with high smoking prevalence, to proven tobacco control strategies.

  8. The Frontier Speaks Back: Two Australian Artists Working in Paris and London

    Directory of Open Access Journals (Sweden)

    Catherine Margaret Speck


    Full Text Available Australian artists living and working in Paris and London in the Belle Époque and modern eras had a deep engagement with cosmopolitanism in cities that were at the frontiers of international modernism. They experienced the liberation of putting aside issues of nation, and of working in large, alienating but culturally challenging multi-nation environs in the pre and post war years. This paper will explore how two women artists, Hilda Rix in Paris, a hub of internationalism; and Nora Heysen in London, a city ill-described in the Empire language of ‘home’ for Australians, connected with and articulated cosmopolitan culture. Expatriatism facilitated an offshore variant of Australian modernism.

  9. Substance misuse in Aboriginal Australians. (United States)

    Gracey, M


    Australia's Aborigines lived in isolation from the rest of humanity as successful hunter-gatherers for tens of thousands of years. That isolation ended abruptly with British colonization in the late 18th century and was followed by a traumatic 200 years for Aborigines who are now seriously disadvantaged, socio-economically and in terms of their health standards. It has often been assumed that the Aborigines had no access to psychotropic substances before permanent European contact but several pieces of evidence dispute this view. The history of Aboriginal contact with and usage of intoxicating substances, including alcohol, is extremely complex and affected by a maze of restrictive government policies. These interact with a wide range of other Federal and State policies which have changed rapidly since the late 1960s when Aborigines were first granted the franchise; access to unrestricted drinking followed soon afterwards. Today Aborigines suffer disproportionately to other Australians from the physical and social consequences of excess alcohol consumption, tobacco usage, petrol and other solvent sniffing, usage of marijuana, amphetamines, cocaine and heroin, as well as other drugs. The Aboriginal population is dispersed in cities, towns, fringe settlements, rural and remote areas over this vast continent and there are different patterns of drug usage from place to place. This review attempts to synthesize some of this information in order to give an overview to the history, background, current status of substance misuse by Aborigines as well as some strategies being used to try to overcome this serious problem.

  10. Introducing the Australian Uranium Association

    International Nuclear Information System (INIS)

    Angwin, M.


    The Australian Uranium Association was formed in September last year in the midst of a very exciting period of change for the industry. What forged this new grouping was the industry's belief that it needed a strong representative organisation to play an advocacy role for uranium exploration and mining, at a very important moment of opportunity for the industry. That 'moment of opportunity' was the result of some critical trends and events, First, the very rapid increase in the price of uranium was driving renewed exploration and investment across Australia and the world. In the previous twelve months, the spot price of uranium had risen more than 90%. Second, the Federal Government had established the Uranium Industry Framework as a means by which government and industry could discuss a better regulatory framework. This led to some very fruitful interchanges between industry players. While the UIF talks were continuing, the Federal Government announced a parallel inquiry into whether Australia ought to move further into the nuclear power cycle. Third, the new interest in Australia in climate change and greenhouse gas emissions had led to a steep increase in public interest in the nuclear power option, with many former opponents now willing to listen to the argument

  11. Microbial communities of three sympatric Australian stingless bee species.

    Directory of Open Access Journals (Sweden)

    Sara D Leonhardt

    Full Text Available Bacterial symbionts of insects have received increasing attention due to their prominent role in nutrient acquisition and defense. In social bees, symbiotic bacteria can maintain colony homeostasis and fitness, and the loss or alteration of the bacterial community may be associated with the ongoing bee decline observed worldwide. However, analyses of microbiota associated with bees have been largely confined to the social honeybees (Apis mellifera and bumblebees (Bombus spec., revealing--among other taxa--host-specific lactic acid bacteria (LAB, genus Lactobacillus that are not found in solitary bees. Here, we characterized the microbiota of three Australian stingless bee species (Apidae: Meliponini of two phylogenetically distant genera (Tetragonula and Austroplebeia. Besides common plant bacteria, we find LAB in all three species, showing that LAB are shared by honeybees, bumblebees and stingless bees across geographical regions. However, while LAB of the honeybee-associated Firm4-5 clusters were present in Tetragonula, they were lacking in Austroplebeia. Instead, we found a novel clade of likely host-specific LAB in all three Australian stingless bee species which forms a sister clade to a large cluster of Halictidae-associated lactobacilli. Our findings indicate both a phylogenetic and geographical signal of host-specific LAB in stingless bees and highlight stingless bees as an interesting group to investigate the evolutionary history of the bee-LAB association.

  12. Microbial Communities of Three Sympatric Australian Stingless Bee Species (United States)

    Leonhardt, Sara D.; Kaltenpoth, Martin


    Bacterial symbionts of insects have received increasing attention due to their prominent role in nutrient acquisition and defense. In social bees, symbiotic bacteria can maintain colony homeostasis and fitness, and the loss or alteration of the bacterial community may be associated with the ongoing bee decline observed worldwide. However, analyses of microbiota associated with bees have been largely confined to the social honeybees (Apis mellifera) and bumblebees (Bombus spec.), revealing – among other taxa – host-specific lactic acid bacteria (LAB, genus Lactobacillus) that are not found in solitary bees. Here, we characterized the microbiota of three Australian stingless bee species (Apidae: Meliponini) of two phylogenetically distant genera (Tetragonula and Austroplebeia). Besides common plant bacteria, we find LAB in all three species, showing that LAB are shared by honeybees, bumblebees and stingless bees across geographical regions. However, while LAB of the honeybee-associated Firm4–5 clusters were present in Tetragonula, they were lacking in Austroplebeia. Instead, we found a novel clade of likely host-specific LAB in all three Australian stingless bee species which forms a sister clade to a large cluster of Halictidae-associated lactobacilli. Our findings indicate both a phylogenetic and geographical signal of host-specific LAB in stingless bees and highlight stingless bees as an interesting group to investigate the evolutionary history of the bee-LAB association. PMID:25148082

  13. From Desert to Dessert: Why Australian Dust Matters. (United States)

    Hunter, K. A.; Mackie, D. S.; Boyd, P. W.; McTainsh, G. H.


    The growth of some types of phytoplankton in several parts of the world ocean, including much of the Southern Ocean, is limited by the supply of iron. Large Australian dust storms uplift, transport and abrade soils, to produce aeolian dust that is a significant source iron to the Southern Ocean. Atmospheric processes that enhance the dissolution of iron from aeolian dusts are of interest and have been studied for material from major dust producing regions like the Sahara, Gobi and Australian deserts; the reported solubility of iron from aeolian dusts ranges from <0.01% to 80%. The characteristic red soils, sands and dusts from Australia are generally believed to consist of quartz grains with a coating of fine grains and crystals of iron oxides, primarily hematite and goethite. The precise mineralogy of soil and dust grain coatings is poorly understood and it also not well known how the coatings are altered during uplift and transport to the ocean. Current models to understand the processes operating during the transport and atmospheric processing of dust include some generalisations and simplifications that are not always warranted and our work has shown the overlooked complexity of the system. Models for aeolian-iron dissolution based on Northern Hemisphere data commonly include the pollutants SOx and NOx. The modern Southern Hemisphere is less polluted and thus resembles past environmental systems. The dissolution of iron from soils of the Saharan, Gobi and Australian deserts in the presence of protons only (i.e. without SOx and NOx) occurs in two phases. The first, faster phase, representing up to 20% of total iron is via a surface-controlled mechanism. The rate determining variable is the exposed surface area of the iron oxides and not the size of the underlying quartz grain. The second, slower, phase of dissolution occurs via the transport-controlled formation of a leached layer. During the simulated aeolian abrasion of Australian soils from dust producing

  14. Diet and pregnancy status in Australian women. (United States)

    Hure, Alexis; Young, Anne; Smith, Roger; Collins, Clare


    To investigate and report the diet quality of young Australian women by pregnancy status. Pregnancy status was defined as pregnant (n 606), trying to conceive (n 454), had a baby in the last 12 months (n 829) and other (n 5597). The Dietary Questionnaire for Epidemiological Studies was used to calculate diet quality using the Australian Recommended Food Score (ARFS) methodology. Nutrient intakes were compared with the Nutrient Reference Values for Australia and New Zealand. A population-based cohort participating in the Australian Longitudinal Study on Women's Health (ALSWH). A nationally representative sample of Australian women, aged 25 to 30 years, who completed Survey 3 of the ALSWH. The 7486 women with biologically plausible energy intake estimates, defined as >4.5 but food group accounted for this small difference. Across all pregnancy categories there were important nutrients that did not meet the current nationally recommended levels of intake, including dietary folate and fibre. Women do not appear to consume a wider variety of nutritious foods when planning to become pregnant or during pregnancy. Many young Australian women are failing to meet key nutrient targets as nationally recommended.

  15. Assessment of genetic diversity on a sample of cocoa accessions resistant to witches' broom disease based on RAPD and pedigree data Avaliação da diversidade genética em uma amostra de acessos de cacau resistentes à doença vassoura-de-bruxa, com base em dados de RAPD e pedigree

    Directory of Open Access Journals (Sweden)

    Ronaldo Carvalho dos Santos


    Full Text Available Genetic diversity in cocoa (Theobroma cacao L. has been assessed based on morphological and molecular markers for germplasm management and breeding purposes. Pedigree data is available in cocoa but it has not been used for assessing genetic relatedness. The geneitic diversity of 30 clonal cocoa accessions resistant to witche´ broom disease, from the CEPEC series, were studied on the basis of RAPD data and pedigree information. Twenty of these accessions descend from the TSA-644 clone, originated from a cross between the Upper Amazon germplasm called Scavina-6, the main source of resistance to witches' broom disease, and IMC-67. The ten remaining clones come from different sources including Amazon and Trinitario germplasm. RAPD data was collected using 16 primers and pedigree information was obtained from the International Cocoa Germplasm Database. Genetic similarities, genetic distances and coefficient of parentage were calculated using available software. Relatively low genetic diversity was observed in this germplasm set, probably because of great genetic relatedness amongst accessions studied and the poor representation of the germplasm. The TSA-644 descendants were more diverse than the other accessions used in the study. This might be due to the origin of the TSA clone, which was derived from highly divergent genotypes. Association between genetic similarities based on RAPD data and coefficient of parentage, based on pedigree data, was very low, probably due to the homogeneity of the breeding stocks and poor pedigree information. These findings are useful to cocoa breeders in planning crosses for the development of hybrid and clonal cultivars.A diversidade genética em cacau (Theobroma cacao L., embasada em dados morfológicos e em marcadores moleculares, tem sido avaliada com fins de manejo de germoplasma e uso no melhoramento genético. Dados de genealogia de cacau, embora disponíveis, não têm sido utilizados. Foi analisada a

  16. The Australian National Proton Facility

    International Nuclear Information System (INIS)

    Jackson, M.; Rozenfeld, A.; Bishop, J.


    Full text: Protons have been used in the treatment of cancer since 1954 and over 30,000 patients have been treated around the world. Their precise dose distribution allows the treatment of small tumours in critical locations such as the base of skull and orbit and is an alternative to stereotactic radiotherapy in other sites. With the development of hospital-based systems in the 1990's, common tumours such as prostate, breast and lung cancer can now also be treated using simple techniques. The therapeutic ratio is improved as the dose to the tumour can be increased while sparing normal tissues. The well defined high dose region and low integral dose compared with photon treatments is a particular advantage in children and other situations where long-term survival is expected and when used in combination with chemotherapy. In January 2002, the NSW Health Department initiated a Feasibility Study for an Australian National Proton Facility. This Study will address the complex medical, scientific, engineering, commercial and legal issues required to design and build a proton facility in Australia. The Facility will be mainly designed for patient treatment but will also provide facilities for biological, physical and engineering research. The proposed facility will have a combination of fixed and rotating beams with an energy range of 70-250 MeV. Such a centre will enable the conduct of randomised clinical trials and a comparison with other radiotherapy techniques such as Intensity Modulated Radiation Therapy. Cost-utility comparisons with other medical treatments will also be made and further facilities developed if the expected benefit is confirmed. When patients are not being treated, the beam will be available for commercial and research purposes. This presentation will summarize the progress of the Study and discuss the important issues that need to be resolved before the Facility is approved and constructed

  17. Data Convergence - An Australian Perspective (United States)

    Allen, S. S.; Howell, B.


    Coupled numerical physical, biogeochemical and sediment models are increasingly being used as integrators to help understand the cumulative or far field effects of change in the coastal environment. This reliance on modeling has forced observations to be delivered as data streams ingestible by modeling frameworks. This has made it easier to create near real-time or forecasting models than to try to recreate the past, and has lead in turn to the conversion of historical data into data streams to allow them to be ingested by the same frameworks. The model and observation frameworks under development within Australia's Commonwealth and Industrial Research Organisation (CSIRO) are now feeding into the Australian Ocean Data Network's (AODN's) MARine Virtual Laboratory (MARVL) . The sensor, or data stream, brokering solution is centred around the "message" and all data flowing through the gateway is wrapped as a message. Messages consist of a topic and a data object and their routing through the gateway to pre-processors and listeners is determined by the topic. The Sensor Message Gateway (SMG) method is allowing data from different sensors measuring the same thing but with different temporal resolutions, units or spatial coverage to be ingested or visualized seamlessly. At the same time the model output as a virtual sensor is being explored, this again being enabled by the SMG. It is only for two way communications with sensor that rigorous adherence to standards is needed, by accepting existing data in less than ideal formats, but exposing them though the SMG we can move a step closer to the Internet Of Things by creating an Internet of Industries where each vested interest can continue with business as usual, contribute to data convergence and adopt more open standards when investment seems appropriate to that sector or business.Architecture Overview

  18. Sources of practice knowledge among Australian fitness trainers. (United States)

    Bennie, Jason A; Wiesner, Glen H; van Uffelen, Jannique G Z; Harvey, Jack T; Biddle, Stuart J H


    Few studies have examined the sources of practice knowledge fitness trainers use to inform their training methods and update knowledge. This study aims to describe sources of practice knowledge among Australian fitness trainers. In July 2014, 9100 Australian fitness trainers were invited to complete an online survey. Respondents reported the frequency of use of eight sources of practice knowledge (e.g. fitness magazines, academic texts). In a separate survey, exercise science experts (n = 27) ranked each source as either (1) 'high-quality' or (2) 'low-quality'. Proportions of users of 'high-quality' sources were calculated across demographic (age, sex) and fitness industry-related characteristics (qualification, setting, role). A multivariate logistic regression analysis assessed the odds of being classified as a user of high-quality sources, adjusting for demographic and fitness industry-related factors. Out of 1185 fitness trainers (response rate = 13.0%), aged 17-72 years, 47.6% (95% CI, 44.7-50.4%) were classified as frequent users of high-quality sources of practice knowledge. In the adjusted analysis, compared to trainers aged 17-26 years, those aged ≥61 years (OR, 2.15; 95% CI, 1.05-4.38) and 40-50 years (OR, 1.54; 95% CI, 1.02-2.31) were more likely to be classified as a user of high-quality sources. When compared to trainers working in large centres, those working in outdoor settings (OR, 1.81; 95% CI, 1.23-2.65) and medium centres (OR, 1.59; 95% CI, 1.12-2.29) were more likely to be classified as users of high-quality sources. Our findings suggest that efforts should be made to improve the quality of knowledge acquisition among Australian fitness trainers.

  19. Diabetes management in an Australian primary care population. (United States)

    Krass, I; Hebing, R; Mitchell, B; Hughes, J; Peterson, G; Song, Y J C; Stewart, K; Armour, C L


    Worldwide studies have shown that significant proportions of patients with type 2 diabetes (T2DM) do not meet targets for glycaemic control, blood pressure (BP) and lipids, putting them at higher risk of developing complications. However, little is known about medicines management in Australian primary care populations with T2DM. The aim of this study was to (i) describe the management of a large group of patients in primary care, (ii) identify areas for improvement in management and (iii) determine any relationship between adherence and glycaemic, BP and lipid control. This was a retrospective, epidemiological study of primary care patients with T2DM diabetes, with HbA(1c) of >7%, recruited in 90 Australian community pharmacies. Data collected included demographic details, diabetes history, current medication regimen, height, weight, BP, physical activity and smoking status. Of the 430 patients, 98% used antidiabetics, 80% antihypertensives, 73% lipid lowering drugs and 38% aspirin. BP and all lipid targets were met by only 21% and 14% of the treated patients and 21% and 12% of the untreated patients respectively. Medication adherence was related to better glycaemic control (P = 0.04). An evidence-base prescribing practice gap was seen in this Australian primary care population of T2DM patients. Patients were undertreated with antihypertensive and lipid lowering medication, and several subgroups with co-morbidities were not receiving the recommended pharmacotherapy. Interventions are required to redress the current evidence-base prescribing practice gap in disease management in primary care. © 2011 Blackwell Publishing Ltd.

  20. Genetic analysis of the pedigrees and molecular defects of the GH-receptor gene in the Israeli cohort of patients with Laron syndrome. (United States)

    Shevah, Orit; Laron, Zvi


    Out of the 63 patients with Laron Syndrome ( LS) followed in our clinic we were able to perform a genetic analysis on 43 patients belonging to 28 families. Twenty-seven patients were Jews, eight were Arabs, one was Druze, and six were Caucasians from countries other then Israel. Consanguinity was found in 11 families. Molecular analysis of the growth hormone receptor gene was performed in 32 patients and 32 family members. From the study of the pedigrees, as well as the GH receptor gene analysis, we confirmed an earlier report from our group that LS is a recessively inherited disease. One patient with a classical phenotype of LS had a non-classical pattern of inheritance: R43X heterozygosity together with a heterozygous polymorphism G168G; a condition which needs further exploration.

  1. Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1. (United States)

    Midro, Alina T; Zollino, Marcella; Wiland, Ewa; Panasiuk, Barbara; Iwanowski, Piotr S; Murdolo, Marina; Śmigiel, Robert; Sąsiadek, Maria; Pilch, Jacek; Kurpisz, Maciej


    The purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome translocations (RCTs), differing in localization of the breakpoint positions at the 4p subband-namely, 4p16.3 (carrier 1) and 4p16.1 (carrier 2)-and to compare data of the pedigree analyses performed by direct method. Three-color fluorescent in situ hybridization (FISH) on sperm cells and FISH mapping for the evaluation of the breakpoint positions, data from pedigrees, and direct segregation analysis of the pedigrees were performed. Similar proportions of normal/balanced and unbalanced sperm cells were found in both carriers. The most common was an alternate type of segregation (about 52 % and about 48 %, respectively). Unbalanced adjacent I and adjacent II karyotypes were found in similar proportions about 15 %. The direct segregation analysis (following Stengel-Rutkowski) of the pedigree of carriers of t(4;8)(p16.1;p23.1) was performed and results were compared with the data of the pedigree segregation analysis obtained earlier through the indirect method. The probability of live-born progeny with unbalanced karyotype for carriers of t(4;8)(p16.1;p23.1) was moderately high at 18.8 %-comparable to the value obtained using the indirect method for the same carriership, which was 12 %. This was, however, markedly lower than the value of 41.2 % obtained through the pedigree segregation indirect analysis estimated for carriers of t(4;8)(p16.3;p23.1), perhaps due to the unique composition of genes present within the 4p16.1-4p 16.3 region. Revealed differences in pedigree segregation analysis did not correspond to the very similar profile of meiotic segregation patterns presented by carrier 1 and carrier 2. Most probably, such discordances may be due to differences in embryo survival rates arising from different genetic backgrounds.

  2. Australian mineral industry annual review for 1982

    Energy Technology Data Exchange (ETDEWEB)


    The Australian mineral industry annual review records the activities and development of the Australian mineral industry and reports production, consumption, treatment, trade, prices, new developments, exploration and resources for mineral commodities including fuels, and summarises equivalent developments abroad. The present volume reviews activities and developments in 1982. Part 1 (General Review) - after briefly surveying the world mineral industry, summarises developments in the Australian mineral industry as a whole, under the headings: the industry in the national economy; important recent developments; production; overseas trade; prices; exploration expenditure; investment; income tax; royalties; structural data; wages and salaries; industrial disputes; and government assistance, legislation and controls. Part 2 (Commodity Review) - covers industrial mineral commodities, from abrasives to zirconium. Part 3 (Mining Census) - tabulates statistics extracted from the mining census, together with some mineral processing statistics from the manufacturing census. Part 4 (Miscellaneous) - tabulates quantum and value data on mineral output provided by State departments of mines and their equivalents.

  3. Medical radioisotope production - the Australian experience

    Energy Technology Data Exchange (ETDEWEB)

    Druce, M. [Australian Nuclear Science and Technology Organisation, Menai (Australia)


    The Australian government, through its instrumentality, the Australian Nuclear Science and Technology Organization (ANSTO), owns and operates a 10-MW Dido-class research reactor at Lucas Heights on the southern outskirts of Sydney. This is the only operating nuclear reactor in Australia. It was built in 1958 and has a maximum flux of 1 x 10{sup 14} n/cm{sup 2}{center_dot}s. ANSTO also jointly owns and operates a 30-MeV IBA negative ion cyclotron at Camperdown in central Sydney, which began operation in 1992. ANSTO is predominantly a research organization; however, radioisotopes are commercially produced through Australian Radioisotopes (ARI), an ANSTO business entity. Seventy-four people are employed by ARI, which is a vertically integrated organization, i.e., everything from target preparation to sale of products is undertaken.

  4. Suicide of Australians during the Vietnam War. (United States)

    Pridmore, Saxby; Ahmadi, Jamshid; Pridmore, William


    National suicide rates fall during times of war. This fits with the notion of the population coming together against a common foe. But, what happens in the case of a war which is not fully supported, which draws the population and families apart? We consider this question by examining the Australian suicide rates during the divisive Vietnam War. We graphed and examined the Australian suicide figures for 1921-2010. We found clear evidence of a decrease in the suicide rate for World War II (consistent with other studies), but a marked elevation of suicide during the Vietnam War. The elevation of the Australian suicide rate during the Vietnam War is consistent with Durkheim's social integration model - when social integration is lessened, either by individual characteristics or societal characteristics, the risk of suicide rises.

  5. Aboriginal Agency and Marginalisation in Australian Society

    Directory of Open Access Journals (Sweden)

    Terry Moore


    Full Text Available It is often argued that while state rhetoric may be inclusionary, policies and practices may be exclusionary. This can imply that the power to include rests only with the state. In some ways, the implication is valid in respect of Aboriginal Australians. For instance, the Australian state has gained control of Aboriginal inclusion via a singular, bounded category and Aboriginal ideal type. However, the implication is also limited in their respect. Aborigines are abject but also agents in their relationship with the wider society. Their politics contributes to the construction of the very category and type that governs them, and presses individuals to resist state inclusionary efforts. Aboriginal political elites police the performance of an Aboriginality dominated by notions of difference and resistance. The combined processes of governance act to deny Aborigines the potential of being both Aboriginal and Australian, being different and belonging. They maintain Aborigines’ marginality.

  6. Topics from Australian Conferences on Teaching Statistics

    CERN Document Server

    Phillips, Brian; Martin, Michael


    The first OZCOTS conference in 1998 was inspired by papers contributed by Australians to the 5th International Conference on Teaching Statistics. In 2008, as part of the program of one of the first National Senior Teaching Fellowships, the 6th OZCOTS was held in conjunction with the Australian Statistical Conference, with Fellowship keynotes and contributed papers, optional refereeing and proceedings. This venture was so successful that the 7th and 8th OZCOTS were similarly run, conjoined with Australian Statistical Conferences in 2010 and 2012. Authors of papers from these OZCOTS conferences were invited to develop chapters for refereeing and inclusion in this volume. There are sections on keynote topics, undergraduate curriculum and learning, professional development, postgraduate learning, and papers from OZCOTS 2012. Because OZCOTS aim to unite statisticians and statistics educators, the approaches this volume takes are immediately relevant to all who have a vested interest in good teaching practices. Glo...

  7. Crossing borders: extraterritorial application of Australian directors’ duties


    McKeown, Peter Julian Joseph


    Australian corporations operate in an increasingly international environment. It has intuitive appeal that Australian law should regulate the conduct of directors of Australian corporations even if it occurs outside Australia. This however can create tension with the competing rights of the foreign state in whose territory this conduct occurs to regulate such conduct. This thesis examines two questions. Firstly, does Australian law governing directors’ duties in fact apply to activities of a ...

  8. Transplantation of human umbilical cord-derived mesenchymal stems cells for the treatment of Becker muscular dystrophy in affected pedigree members. (United States)

    Li, Pang; Cui, Kai; Zhang, Bo; Wang, Zhendan; Shen, Yangyang; Wang, Xiangyu; Zhang, Jianbo; Tong, Feng; Li, Sheng


    The regeneration of muscle tissue has been achieved using multipotent mesenchymal stem cells in mouse models of injured skeletal muscle. In the present study, the utility of multipotent human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) in the treatment of Becker muscular dystrophy (BMD), a genetic disease where muscle tissue fails to regenerate, was examined in members from a pedigree affected by BMD. The disease status was evaluated in 4 affected pedigree members (II1, II2, II3 and III2; aged 50, 46, 42 and 6 years, respectively). The transplantation of the hUC‑MSCs (performed on 3 patients, I2, II3 and III2) was performed by infusion with an intravenous drip over a 30‑min period, and the patients were evaluated at 1, 3, 4 and 12 weeks following the procedure. The evaluation was based on physical characteristics, as well as on molecular testing for serum creatine kinase (CK) and lactate dehydrogenase (LDH) levels and a histological examination of muscle biopsies. The patients suffered no adverse reactions in response to the transplantation of the hUC‑MSCs. At 1 week following transplantation all 3 patients showed improvement in the muscle force of the limbs, muscle size and daily activity. The walking gait of patient III2 had improved by 1 week post-transplantation and reached a normal status by 12 weeks. Serum CK and LDH levels were decreased relative to the baseline levels. A histological examination of muscle biopsies displayed no obvious tissue regeneration. In conclusion, the treatment of patients with BMD using hUC-MSCs was safe and of therapeutic benefit that lasted for up to 12 weeks. hUC-MSCs are, therefore, a potential cell therapy-based treatment option for patients with muscular dystrophies.

  9. Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree. (United States)

    Yu, T; Wang, X; Ding, Q; Fu, Q; Dai, J; Lu, Y; Xi, X; Wang, H


    Factor VII deficiency which transmitted as an autosomal recessive disorder is a rare haemorrhagic condition. The aim of this study was to identify the molecular genetic defect and determine its functional consequences in a Chinese pedigree with FVII deficiency. The proband was diagnosed as inherited coagulation FVII deficiency by reduced plasma levels of FVII activity (4.4%) and antigen (38.5%). All nine exons and their flanking sequence of F7 gene were amplified by polymerase chain reaction (PCR) for the proband and the PCR products were directly sequenced. The compound heterozygous mutations of F7 (NM_000131.3) c.572-1G>A and F7 (NM_000131.3) c.1165T>G; p.Cys389Gly were identified in the proband's F7 gene. To investigate the splicing patterns associated with F7 c.572-1G>A, ectopic transcripts in leucocytes of the proband were analyzed. F7 minigenes, spanning from intron 4 to intron 7 and carrying either an A or a G at position -1 of intron 5, were constructed and transiently transfected into human embryonic kidney (HEK) 293T cells, followed by RT-PCR analysis. The aberrant transcripts from the F7 c.572-1G>A mutant allele were not detected by ectopic transcription study. Sequencing of the RT-PCR products from the mutant transfectant demonstrated the production of an erroneously spliced mRNA with exon 6 skipping, whereas a normal splicing occurred in the wide type transfectant. The aberrant mRNA produced from the F7 c.572-1G>A mutant allele is responsible for the factor VII deficiency in this pedigree.

  10. Drama in the Australian National Curriculum: Decisions, Tensions and Uncertainties (United States)

    Stinson, Madonna; Saunders, John Nicholas


    In September 2015, the Australian Federal Government endorsed the final version of the Australian Curriculum arts framework a document resulting from nearly seven years of consultation and development. "The Australian Curriculum: The Arts Version 8.0" comprises five subjects: dance, drama, media arts, music and visual arts. This article…

  11. Australian internet histories: Past, present and future

    DEFF Research Database (Denmark)

    Brügger, Niels


    be worth considering in the future: constituting the field based on shared theoretical and methodological reflections; using archived web material to a larger extent; participating in the shaping of a digital research infrastructure for internet studies; and increasing international research relations.......This Afterword compares the articles in this issue of Media International Australia to the ‘first wave’ of Australian internet historiography, a field of study established by Australian internet scholars around 2000. After identifying what is new in the present issue, I outline four paths that may...

  12. Australian uranium wants to stay at home

    International Nuclear Information System (INIS)

    Slovak, K.


    In this issue a battle of purchase of Australian WMC Company - minor of nickel, copper and uranium. Domestic company BHB Hilton will probably win this battle. This company offers 7.3 billion USD for WMC. Australian company offers approximately in 800 million USD more than Swiss competitor Xstrata. WMC controls more than one third of worldwide known uranium deposits in its mine Olympic Dam. WMC is the fifth largest producer of nickel in the world. United company should be the second in the world in copper mining after Chile Codelco and the third in aluminium mining after Russian company Norilsk Nickel and Canadian Inco

  13. Regulation of online pharmacy: an Australian perspective. (United States)

    Bernath, Paul


    This article argues that existing Australian regulations do not adequately cover online pharmacies or Internet advertising of medicines and that existing penalties and sanctions are often ineffective, potentially placing public health and safety at risk. Suggestions are made for future regulatory approaches. It is concluded that as well as an effective program of public education, cautious domestic legislative reform is necessary to ensure specific regulation of Australian online pharmacy practice and Internet advertising of medicines. In addition, the global nature of the Internet demands international co-operation and increased regulator and consumer vigilance.

  14. Astronomical Symbolism in Australian Aboriginal Rock Art (United States)

    Norris, Ray P.; Hamacher, Duane W.


    Traditional Aboriginal Australian cultures include a significant astronomical component, perpetuated through oral tradition and ceremony. This knowledge has practical navigational and calendrical functions, and sometimes extends to a deep understanding of the motion of objects in the sky. Here we explore whether this astronomical tradition is reflected in the rock art of Aboriginal Australians. We find several plausible examples of depictions of astronomical figures and symbols, and also evidence that astronomical observations were used to set out stone arrangements. However, we recognise that the case is not yet strong enough to make an unequivocal statement, and describe our plans for further research.

  15. Strengthening health promotion in Australian workplaces. (United States)

    Fisher, K J; Deeds, S; Siebel, R; Allen, J


    The Australian workplace has emerged as an important venue for influencing the health of employees through regulations and behaviour change programs. Recent surveys have highlighted a growth in this activity but the effectiveness of these programs in changing unhealthy work practices and policies is questionable. The need for strengthening programs by stronger designs and evaluation, and addressing organisational factors and employee participation in planning and implementation processes is documented. Efforts in that direction in Queensland are cited, Building on these existing foundations, redirecting existing resources, and building intersectoral cooperation in public-private partnerships hold a creative, exemplary vision of the future for Australian workplace programming.

  16. Promoting leadership and management in Australian general practice nursing: what will it take? (United States)

    Halcomb, Elizabeth J; Davidson, Patricia M; Patterson, Elizabeth


    This paper outlines the current state of Australian practice nursing, describes the context of general practice and establishes the importance of promoting leadership and management in this setting. Australian general practice nurses have emerged as key stakeholders in primary health care. However, their role in leadership and management has been largely invisible. The reasons for this are multifactorial, including the delay to establish a strong professional organization, their negative power relationships with general medical practitioners, limited nursing leadership and poorly defined roles. To date, the impetus for practice nurse growth has been largely external to the nursing profession. Growth has been driven by the increasing burden of chronic disease and workforce shortages. This has further weakened the control of nurse leaders over the development of the specialty. The Australian practice nurse role is at a crossroads. While the practice nurse role is a viable force to improve health outcomes, the growing strength of the practice nurse challenges traditional professional roles and practice patterns. There is an urgent need to develop practice nurse leaders and managers to not only embrace the challenges of Australian general practice from an operational perspective, but also undertake a clinical leadership role. As clinical leaders, these nurses will need to develop a culture that not only optimizes health outcomes but also advances the status of the nursing profession.

  17. Trends in sugar supply and consumption in Australia: is there an Australian Paradox? (United States)

    Rikkers, Wavne; Lawrence, David; Hafekost, Katherine; Mitrou, Francis; Zubrick, Stephen R


    High consumption of refined carbohydrate, in particular sugar, has been identified as a possible contributory factor in greater risk of excess weight gain. In spite of data limitations, one recent paper suggests that Australian sugar consumption has decreased over the same time period that obesity has increased, a so called 'Australian Paradox'. Given the significant public health focus on nutrition, we aimed to estimate Australian sugar supply and consumption over recent decades, to determine whether these data could be used to make any conclusions about sugar's role in obesity. Foods high in sugar were identified. Data relating to sugar supply and consumption from 1988 to 2010 were obtained from multiple sources. Using these data we attempted to generate a time series estimate of sugar in Australia's food supply. Australia produces and exports sugar from sugar cane and the sugar in imported foods has received little attention. We were unable to produce a reliable and robust estimate of total sugars in the Australian diet due to data limitations and a lack of current data sources. However, available Import data showed large increases in the volume and value of imported sweetened products between 1988 and 2010 to over 30 grams of sugar per person per day. Value estimates of local production of sweetened products also show substantial increases in this period. The Australian Paradox assertion is based on incomplete data, as it excludes sugar contained in imported processed foods, which have increased markedly. A major Australian public health target is to improve the quality of the food supply, and actions have been set in terms of achieving broader environmental changes. However, evaluation of progress is hampered by lack of high quality data relating to supply and consumption. We recommend the regular collection of comprehensive food supply statistics, which include both local production and imports. This would provide an inexpensive addition to survey data and

  18. An introduction to the Australian and New Zealand flux tower network - OzFlux (United States)

    Beringer, Jason; Hutley, Lindsay B.; McHugh, Ian; Arndt, Stefan K.; Campbell, David; Cleugh, Helen A.; Cleverly, James; Resco de Dios, Víctor; Eamus, Derek; Evans, Bradley; Ewenz, Cacilia; Grace, Peter; Griebel, Anne; Haverd, Vanessa; Hinko-Najera, Nina; Huete, Alfredo; Isaac, Peter; Kanniah, Kasturi; Leuning, Ray; Liddell, Michael J.; Macfarlane, Craig; Meyer, Wayne; Moore, Caitlin; Pendall, Elise; Phillips, Alison; Phillips, Rebecca L.; Prober, Suzanne M.; Restrepo-Coupe, Natalia; Rutledge, Susanna; Schroder, Ivan; Silberstein, Richard; Southall, Patricia; Yee, Mei Sun; Tapper, Nigel J.; van Gorsel, Eva; Vote, Camilla; Walker, Jeff; Wardlaw, Tim


    OzFlux is the regional Australian and New Zealand flux tower network that aims to provide a continental-scale national research facility to monitor and assess trends, and improve predictions, of Australia's terrestrial biosphere and climate. This paper describes the evolution, design, and current status of OzFlux as well as provides an overview of data processing. We analyse measurements from all sites within the Australian portion of the OzFlux network and two sites from New Zealand. The response of the Australian biomes to climate was largely consistent with global studies except that Australian systems had a lower ecosystem water-use efficiency. Australian semi-arid/arid ecosystems are important because of their huge extent (70 %) and they have evolved with common moisture limitations. We also found that Australian ecosystems had a similar radiation-use efficiency per unit leaf area compared to global values that indicates a convergence toward a similar biochemical efficiency. The two New Zealand sites represented extremes in productivity for a moist temperate climate zone, with the grazed dairy farm site having the highest GPP of any OzFlux site (2620 gC m-2 yr-1) and the natural raised peat bog site having a very low GPP (820 gC m-2 yr-1). The paper discusses the utility of the flux data and the synergies between flux, remote sensing, and modelling. Lastly, the paper looks ahead at the future direction of the network and concludes that there has been a substantial contribution by OzFlux, and considerable opportunities remain to further advance our understanding of ecosystem response to disturbances, including drought, fire, land-use and land-cover change, land management, and climate change, which are relevant both nationally and internationally. It is suggested that a synergistic approach is required to address all of the spatial, ecological, human, and cultural challenges of managing the delicately balanced ecosystems in Australasia.

  19. Western Australian food security project

    Directory of Open Access Journals (Sweden)

    Maycock Bruce


    Full Text Available Abstract Background The aim of the Western Australian (WA Food Security Project was to conduct a preliminary investigation into issues relating to food security in one region within the Perth metropolitan area in Western Australia. The first phase of the project involved a food audit in one lower income area that was typical of the region, to identify the range, variety and availability of foods in the region. Methods A comprehensive food audit survey was provided to all food outlet owners/operators in one lower socio-economic region within the City of Mandurah (n = 132 outlets. The purpose of the survey was to investigate the range, variety and availability of foods in the Mandurah region as well as examining specific in-store characteristics such as the types of clientele and in-store promotions offered. Surveys were competed for 99 outlets (response rate = 75%. Results The range of foods available were predominantly pre-prepared with more than half of the outlets pre-preparing the majority of their food. Sandwiches and rolls were the most popular items sold in the outlets surveyed (n = 51 outlets followed by pastries such as pies, sausage rolls and pasties (n = 33 outlets. Outlets considered their healthiest food options were sandwiches or rolls (n = 51 outlets, salads (n- = 50 outlets, fruit and vegetables (n = 40 outlets, seafood (n = 27 outlets, meats such as chicken (n = 26 outlets and hot foods such as curries, soups or quiches (n = 23 outlets. The majority of outlets surveyed considered pre-prepared food including sandwiches, rolls and salads, as healthy food options regardless of the content of the filling or dressings used. Few outlets (n = 28% offered a choice of bread type other than white or wholemeal. High fat pastries and dressings were popular client choices (n = 77% as were carbonated drinks (n = 88% and flavoured milks (n = 46%. Conclusion These findings clearly indicate the need for further investigation of the impact of

  20. Evidence and Consequence of a Highly Adapted Clonal Haplotype within the Australian Ascochyta rabiei Population

    Directory of Open Access Journals (Sweden)

    Yasir Mehmood


    Full Text Available The Australian Ascochyta rabiei (Pass. Labr. (syn. Phoma rabiei population has low genotypic diversity with only one mating type detected to date, potentially precluding substantial evolution through recombination. However, a large diversity in aggressiveness exists. In an effort to better understand the risk from selective adaptation to currently used resistance sources and chemical control strategies, the population was examined in detail. For this, a total of 598 isolates were quasi-hierarchically sampled between 2013 and 2015 across all major Australian chickpea growing regions and commonly grown host genotypes. Although a large number of haplotypes were identified (66 through short sequence repeat (SSR genotyping, overall low gene diversity (Hexp = 0.066 and genotypic diversity (D = 0.57 was detected. Almost 70% of the isolates assessed were of a single dominant haplotype (ARH01. Disease screening on a differential host set, including three commonly deployed resistance sources, revealed distinct aggressiveness among the isolates, with 17% of all isolates identified as highly aggressive. Almost 75% of these were of the ARH01 haplotype. A similar pattern was observed at the host level, with 46% of all isolates collected from the commonly grown host genotype Genesis090 (classified as “resistant” during the term of collection identified as highly aggressive. Of these, 63% belonged to the ARH01 haplotype. In conclusion, the ARH01 haplotype represents a significant risk to the Australian chickpea industry, being not only widely adapted to the diverse agro-geographical environments of the Australian chickpea growing regions, but also containing a disproportionately large number of aggressive isolates, indicating fitness to survive and replicate on the best resistance sources in the Australian germplasm.

  1. Numerical modeling of the Indo-Australian intraplate deformation (United States)

    Brandon, Vincent; Royer, Jean-Yves


    The Indo-Australian plate is perhaps the best example of wide intraplate deformation within an oceanic plate. The deformation is expressed by an unusual level of intraplate seismicity, including magnitude Mw > 8 events, large-scale folding and deep faulting of the oceanic lithosphere and reactivation of extinct fracture zones. The deformation pattern and kinematic data inversions suggest that the Indo-Australian plate can be viewed as a composite plate made of three rigid component plates - India, Capricorn, Australia - separated by wide and diffuse boundaries undergoing either extensional or compressional deformation. We tested this model using the SHELLS numerical code (Kong & Bird, 1995). The Indo-Australian plate is modeled by a mesh of 5281 spherical triangular finite elements. Mesh edges parallel the major extinct fracture zones so that they can be reactivated by reducing their friction rates. Strength of the plate is defined by the age of the lithosphere and seafloor topography. Model boundary conditions are only defined by the plate velocities predicted by the rotation vectors between rigid components of the Indo-Australian plate and their neighboring plates. Since the mesh limits all belong to rigid plates with fully defined Euler vectors, no conditions are imposed on the location, extent and limits of the diffuse and deforming zones. Using MORVEL plate velocities (DeMets et al., 2010), predicted deformation patterns are very consistent with that observed. Pre-existing structures of the lithosphere play an important role in the intraplate deformation and its distribution. The Chagos Bank focuses most of the extensional deformation between the Indian and Capricorn plates. Agreement between models and observation improves by weakening fossil fracture zones relative to the surrounding crust; however only limited sections of FZ's accommodate deformation. The reactivation of the Eocene FZ's in the Central Indian Basin (CIB) and Wharton Basin (WB) explains the

  2. Idiosyncrasies in Australian petrol price behaviour: evidence of seasonalities

    International Nuclear Information System (INIS)

    Mitchell, Jason D.; Lilian Ong; Izan, H.Y.


    It has been argued that there are certain idiosyncrasies in Australian petrol price behaviour. To the extent that these idiosyncrasies result in large magnitude differences in petrol prices, they may be exploited by consumers to significantly reduce their household expenditure on the product. Similarly, such seasonalities may influence retailers in their purchase and storage decision. The objective of this paper is to test for seasonalities in the Australian retail petrol market. The approach adopted is similar to that for determining calendar anomalies as documented in the financial and commodity markets literature. We find that a monthly seasonal effect is pronounced with petrol prices lower in the months of February-May and highest in July and August. A day-of-the-week effect is also apparent and is manifest in all petrol prices for capital cities (Adelaide, Brisbane, Melbourne and Sydney) across various years. However, the half-month effect, as is common in stock returns, is not observed. Moreover, contrary to popular belief that petrol prices are higher surrounding holidays, no evidence of the holiday effect is found. In Brisbane and Melbourne, petrol prices also have some relationship to the mood of consumers, as proxied using weather conditions. This is not observed in Adelaide and Sydney. (Author)

  3. Is the Australian hospital system adequately prepared for terrorism? (United States)

    Rosenfeld, Jeffrey V; Fitzgerald, Mark; Kossmann, Thomas; Pearce, Andrew; Joseph, Anthony; Joseph, Andrew; Tan, Gim; Gardner, Michele; Shapira, Shmuel

    Australian hospitals need to be prepared to deal with mass casualties from terrorist strikes, including bomb blasts and chemical, biological and radiation injury. Injuries from bomb explosions are more severe than those commonly seen in Australian hospitals. In disasters involving mass casualties in urban areas, many of the injured make their own way to hospital, often arriving before the more seriously injured casualties. Major hospitals in Australia should plan for large numbers of undifferentiated and potentially contaminated casualties arriving with minimal warning. It is critical that experienced and trained senior medical officers perform the triage of casualties in emergency departments, with frequent reassessment to detect missed injuries (especially pulmonary blast injury). Hospitals require well developed standard operating procedures for mass casualty events, reinforced by regular drills. Preparing for a major event includes training staff in major incident management, setting up an operational/control unit, nominating key personnel, ensuring there is an efficient intra-hospital communication system, and enhancing links with other emergency services and hospitals.

  4. Pandoraea pnomenusa Isolated from an Australian Patient with Cystic Fibrosis. (United States)

    Ambrose, Mark; Malley, Roslyn C; Warren, Sanchia J C; Beggs, Sean A; Swallow, Oliver F E; McEwan, Belinda; Stock, David; Roddam, Louise F


    Pandoraea species are considered as emerging pathogens in people with cystic fibrosis (CF). The contribution of these organisms to disease progression in CF patients is not fully understood owing in large measure to the scant reports in clinical and research literature describing their colonization of CF patients and their associated virulence determinants. In an effort to increase awareness and evidence for Pandoraea spp. infection in people with CF, and to stimulate research aimed at unraveling the pathogenic properties of Pandoraea, we report a case of a 26-year-old Australian (Tasmanian) man with CF who was chronically infected with Pandoraea pnomenusa for at least one year prior to his death from respiratory failure. In addition, we describe for the first time evidence suggesting that this bacterium is a facultative anaerobe and report on the availability of a whole genome sequence for this organism. To the best of our knowledge, this report represents only the second clinical case study of P. pnomenusa infection in the world, and the first in an Australian CF patient.

  5. Greenhouse governance: An Australian iconoclast`s view

    Energy Technology Data Exchange (ETDEWEB)

    O`Brien, B.J. [Brian J O`Brien Associates Pty Ltd, Floreat Park, WA (Australia)


    The `No Regrets` policy was an imported stop-gap measure taken over five years ago when greenhouse fears were large and knowledge small. This paper suggests that this policy by 1995 is actually a `Three Regrets Policy` for Australia. Regret 1 is that El Nino effects which greatly affect Australia are given lower priority than greenhouse. Regret 2 is the deteriorating image and role of Science and Engineering in Australian society. Regret 3 is the growing domination of the energy debate by greenhouse. It is suggested that greenhouse fears should be put into an updated Australian perspective. The issues of sea level rise, and increasing temperatures are updated. It is believed that recognition of the importance of natural climate variation is increasing, this is not yet being used to put greenhouse into popular perspective. The paper concludes with five suggested actions to turn the `Three Regrets for Australia` into one that truly is `no regrets` for Australia. Putting greenhouse in perspective means a vigorous program of investigating and gradually understanding the whole suite of influences on the climate, natural as well as greenhouse. It includes making a competitive advantage out of the climate variabilities in Australia, from more accurate seasonal forecasts. (author). 3 tabs., 4 figs., refs.

  6. Intoxicated workers: findings from a national Australian survey. (United States)

    Pidd, Ken; Roche, Ann M; Buisman-Pijlman, Femke


    To identify prevalence of alcohol and drug use and intoxication at work. A total of 9,828 Australian workers ≥14 years old. Australia 2007. Work-place alcohol use and drug use, intoxication at work, industry and occupation of employment. Secondary analysis of a large nationally representative survey involving descriptive and weighted multivariate logistic regressions. Differential patterns were identified by drug type, worker characteristics and occupational setting, controlling for demographic variables. Nearly 9% of workers surveyed (8.7%) usually drank alcohol at work and 0.9% usually used drugs at work. Attending work under the influence of alcohol was more prevalent (5.6%) than attending work under the influence of drugs (2.0%), and significantly more likely among young, male, never married workers with no dependent children. Hospitality industry workers were 3.5 times more likely than other workers to drink alcohol and two to three times more likely to use drugs at work or attend work under the influence of alcohol or drugs. Other high-risk industries and occupations included construction, financial services, tradespersons and unskilled workers. More than one in 20 Australian workers admit to having worked under the influence of alcohol and almost one in 50 report attending work under the influence of psychoactive drugs. The rates are higher for some industries, such as the hospitality industry, than others. © 2011 The Authors, Addiction © 2011 Society for the Study of Addiction.

  7. A Community Standard: Equivalency of Healthcare in Australian Immigration Detention. (United States)

    Essex, Ryan


    The Australian government has long maintained that the standard of healthcare provided in its immigration detention centres is broadly comparable with health services available within the Australian community. Drawing on the literature from prison healthcare, this article examines (1) whether the principle of equivalency is being applied in Australian immigration detention and (2) whether this standard of care is achievable given Australia's current policies. This article argues that the principle of equivalency is not being applied and that this standard of health and healthcare will remain unachievable in Australian immigration detention without significant reform. Alternate approaches to addressing the well documented issues related to health and healthcare in Australian immigration detention are discussed.

  8. Australian Geography and the Corporate Management Paradigm. (United States)

    Powell, J. M.


    Criticizes the intrusion into Australian higher education of the corporate management model. Considers the implications of this mechanization for geography instruction. Notes centralizing tendencies and merger policies with the corresponding market imperatives of efficiency and accountability. Argues that this produces employable manpower but does…

  9. Marketing in the Australian Higher Education Sector (United States)

    Favaloro, Chrissa


    This article examines domestic marketing in the Australian higher education sector, specifically, the marketing investment patterns of universities and their levels of student growth as a return on marketing investment. Marketing expenditure by universities has risen 23 per cent in the five years to 2013, with several institutions allocating in…

  10. Australian Education Journals: Quantitative and Qualitative Indicators (United States)

    Haddow, Gaby; Genoni, Paul


    This paper reports on a study that applied citation-based measurements to Australian education journals. Citations data were drawn from two sources, Web of Science and Scopus, and these data were used to calculate each journal's impact factor, "h"-index, and diffusion factor. The rankings resulting from these analyses were compared with…

  11. Learning Choices, Older Australians and Active Ageing (United States)

    Boulton-Lewis, Gillian M.; Buys, Laurie


    This paper reports on the findings of qualitative, semistructured interviews conducted with 40 older Australian participants who either did or did not engage in organized learning. Phenomenology was used to guide the interviews and analysis to explore the lived learning experiences and perspectives of these older people. Their experiences of…

  12. Australian coal year book 1984-1985

    Energy Technology Data Exchange (ETDEWEB)

    Aylward, A [ed.


    The first edition of this new publication provides comprehensive data on the Australian coal industry. Apart from a mine directory which lists technical details for each mine, other subjects include; coal export facilities; annual coal statistics; buyers guide; suppliers directory; addresses of relevant organizations and an index of coal mine owners.

  13. Contributions to Indo-Australian Herpetology

    NARCIS (Netherlands)

    Brongersma, L.D.


    A complete account of all the reptiles then known to occur in the Indo-Australian Archipelago was published by De Rooij in 1915 and 1917. Since this time several new species have been described, while others have been suppressed or revived. Also the problem of geographical variation begins to

  14. Box Plots in the Australian Curriculum (United States)

    Watson, Jane M.


    This article compares the definition of "box plot" as used in the "Australian Curriculum: Mathematics" with other definitions used in the education community; describes the difficulties students experience when dealing with box plots; and discusses the elaboration that is necessary to enable teachers to develop the knowledge…

  15. Publications of Australian LIS Academics in Databases (United States)

    Wilson, Concepcion S.; Boell, Sebastian K.; Kennan, Mary Anne; Willard, Patricia


    This paper examines aspects of journal articles published from 1967 to 2008, located in eight databases, and authored or co-authored by academics serving for at least two years in Australian LIS programs from 1959 to 2008. These aspects are: inclusion of publications in databases, publications in journals, authorship characteristics of…

  16. Caught between Empires: Ambivalence in Australian Films ...

    African Journals Online (AJOL)

    Caught between Empires: Ambivalence in Australian Films. Greg McCarthy. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL · News. OTHER RESOURCES... for Researchers · for ...

  17. Understanding Australian Aboriginal Tertiary Student Needs (United States)

    Oliver, Rhonda; Rochecouste, Judith; Bennell, Debra; Anderson, Roz; Cooper, Inala; Forrest, Simon; Exell, Mike


    Drawing from a study of the experiences of Australian Aboriginal and Torres Strait Islander university students, this paper presents an overview of the specific needs of these students as they enter and progress through their tertiary education. Extracts from a set of case studies developed from both staff and student interviews and an online…

  18. Linguistic Aspects of Australian Aboriginal English (United States)

    Butcher, Andrew


    It is probable that the majority of the 455 000 strong Aboriginal population of Australia speak some form of Australian Aboriginal English (AAE) at least some of the time and that it is the first (and only) language of many Aboriginal children. This means their language is somewhere on a continuum ranging from something very close to Standard…

  19. Does Academic Work Make Australian Academics Happy? (United States)

    Duncan, Roderick; Tilbrook, Kerry; Krivokapic-Skoko, Branka


    Happiness research is a rapidly-growing area in social psychology and has emphasised the link between happiness and workplace productivity and creativity for knowledge workers. Recent articles in this journal have raised concerns about the level of happiness and engagement of Australian academics with their work, however there is little research…

  20. Indigenous Australian art in intercultural contact zones

    Directory of Open Access Journals (Sweden)

    Eleonore Wildburger


    Full Text Available This article comments on Indigenous Australian art from an intercultural perspective. The painting Bush Tomato Dreaming (1998, by the Anmatyerre artist Lucy Ngwarai Kunoth serves as model case for my argument that art expresses existential social knowledge. In consequence, I will argue that social theory and art theory together provide tools for intercultural understanding and competence.

  1. Australian Children's Understanding of Display Rules (United States)

    Choy, Grace


    Cultural display rules govern the manifestation of emotional expressions. In compliance with display rules, the facial expressions displayed (i.e. apparent emotion) may be incongruent with the emotion experienced (i.e. real emotion). This study investigates Australian Caucasian children's understanding of display rules. A sample of 80 four year…

  2. Australian clinical dosimetry service at ARPANSA

    International Nuclear Information System (INIS)

    McDonald, Abel; Williams, Ivan


    Full text: Earlier this year, the Australian Health Ministers' Advisory Council accepted the Federal Government's offer to fund the establishment and operation for 3 years of an Australian Clinical Dosimetry Service (ACDS). The service will be located within the Australian Radiation Protection and Nuclear Safety Agency in Yallambie, Victoria and will commence operation at the beginning of 20II. The purpose of the ACDS is to make available independent checks and auditing services to all Australian radiotherapy services. These services will range form postal audits to site visits, and include treatment dose assessments using phantoms (Level III audits). There will be a Clinical Advisory Group to oversee the development of the service, so the ACPSEM and other professional groups will playa key role in developing the ACDS. In consultation with radiotherapy facilities, the ACDS will establish an Audit Panel which will be made up of local staff to assist with on site work and minimise travel costs. The results of all measurements made by the ACDS will be confi dential: only de-identified data would be publicly reported. The service will be free to participating facilities in the first 3 years. An independent review will be conducted in the third year to determine the ongoing arrangements for the service.

  3. Australian contribution to the science of radioastronomy

    International Nuclear Information System (INIS)

    Mills, B.Y.


    Australia has made numerous major contributions to the science of radioastronomy and played a leading role in its early development. The history of the Australian effort is reviewed, from this early seminal work until the present day when contributions continue at an important level

  4. Professional Standards for Australian Special Education Teachers (United States)

    Dempsey, Ian; Dally, Kerry


    Although professional standards for Australian teachers were developed several years ago, this country is yet to develop such standards for special education teachers. The lack of standards for the special education profession is associated with the absence of a consistent process of accreditation in Australia and a lack of clarity in the pathways…

  5. Intergenerational Challenges in Australian Jewish School Education (United States)

    Gross, Zehavit; Rutland, Suzanne D.


    The aim of this research is to investigate the intergenerational changes that have occurred in Australian Jewish day schools and the challenges these pose for religious and Jewish education. Using a grounded theory approach according to the constant comparative method (Strauss 1987), data from three sources (interviews [296], observations [27],…

  6. The gambling behavior of indigenous Australians. (United States)

    Hing, Nerilee; Breen, Helen; Gordon, Ashley; Russell, Alex


    The gambling activities of minority groups such as Indigenous peoples are usually culturally complex and poorly understood. To redress the scarcity of information and contribute to a better understanding of gambling by Indigenous people, this paper presents quantitative evidence gathered at three Australian Indigenous festivals, online and in several Indigenous communities. With support from Indigenous communities, the study collected and analyzed surveys from 1,259 self-selected Indigenous adults. Approximately 33 % of respondents gambled on card games while 80 % gambled on commercial gambling forms in the previous year. Gambling participation and involvement are high, particularly on electronic gaming machines (EGMs), the favorite and most regular form of gambling. Men are significantly more likely to participate in gambling and to gamble more frequently on EGMs, horse/dog races, sports betting and instant scratch tickets. This elevated participation and frequency of gambling on continuous forms would appear to heighten gambling risks for Indigenous men. This is particularly the case for younger Indigenous men, who are more likely than their older counterparts to gamble on EGMs, table games and poker. While distinct differences between the gambling behaviors of our Indigenous sample and non-Indigenous Australians are apparent, Australian Indigenous behavior appears similar to that of some Indigenous and First Nations populations in other countries. Although this study represents the largest survey of Indigenous Australian gambling ever conducted in New South Wales and Queensland, further research is needed to extend our knowledge of Indigenous gambling and to limit the risks from gambling for Indigenous peoples.

  7. Commercial Activities and Copyright in Australian Universities (United States)

    Shelly, Marita


    With government funding for most Australian universities below 60% and falling a major strategic emphasis for universities has been on securing other sources of operating revenue, including commercial opportunities and partnerships. The implication of increasing commercial activities such as non-award and tailored professional programmes, contract…

  8. Australian National University Science Extension Day (United States)

    Fletcher, Sarah


    The first Australian National University (ANU) Science Extension Day was held on September 8, 2015. The ANU Science Extension Day is a project that was initiated by Theodore Primary School (ACT) and developed by Theodore Primary, Calwell High School, Science Educators Association of the ACT (SEA*ACT), and the ANU. The project was developed with a…

  9. School Libraries Empowering Learning: The Australian Landscape. (United States)

    Todd, Ross J.


    Describes school libraries in Australia. Highlights include the title of teacher librarian and their education; the history of the role of school libraries in Australian education; empowerment; information skills and benchmarks; national standards for school libraries; information literacy; learning outcomes; evidence-based practice; digital…

  10. Conversion Disorder in Australian Pediatric Practice (United States)

    Kozlowska, Kasia; Nunn, Kenneth P.; Rose, Donna; Morris, Anne; Ouvrier, Robert A.; Varghese, John


    Objectives: To describe the incidence and clinical features of children presenting to Australian child health specialists with conversion disorder. Method: Active, national surveillance of conversion disorder in children younger than 16 years of age during 2002 and 2003. Results: A total of 194 children were reported on. The average age was 11.8…

  11. Financial Management and Young Australian Workers (United States)

    Dowling, Nicki; Hoiles, Lauren; Corney, Tim; Clark, David


    In two studies of young Australian workers, participants generally displayed positive attitudes towards financial management practices; however, a substantial proportion failed to display positive financial management practices, experienced financial problems and dissatisfaction, and reported low rates of seeking financial assistance, particularly…

  12. Philip McLaren and the Indigenous-Australian Crime Novel

    Directory of Open Access Journals (Sweden)

    Cornelis Martin Renes


    Full Text Available This paper locates the postcolonial crime novel as a space for disenfranchised groups to write back to the marginalisation inherent in the process of colonisation, and explores the example of Australia. From its inception in the mid-19th century, Australian crime fiction reflected upon the challenging harshness and otherness of the Australian experience for the free and convict settler, expelled from the metropole. It created a series of popular subgenres derived from the convict narrative proper, while more ‘standard’ modes of crime fiction, popularised in and through British and American crime fiction, were late to develop. Whereas Australian crime fiction has given expression to the white experience of the continent in manifold ways, up until recently it made no room for Indigenous voices – with the exception of the classic Inspector Napoleon Bonaparte series written by the prolific Arthur Upfield in the first half of the 20th century. For the longest time, this absence reflected the dispossession, dispersal and disenfranchisement of the colonised Indigenous peoples at large; there were neither Aboriginal voices nor Aboriginal authors, which made the textual space of the Australian crime novel a discursive terra nullius. This paper will look at the only Indigenous-Australian author to date with a substantial body of work in crime fiction, Philip McLaren, and elucidate how his four crime novels break new ground in Australian crime fiction by embedding themselves within a political framework of Aboriginal resilience and resistance to neo/colonialism. Written as of the 1990s, McLaren’s oeuvre is eclectic in that it does not respond to traditional formats of Australian crime fiction, shifts between generic subtypes and makes incursions into other genres. The paper concludes that McLaren’s oeuvre has not been conceived of as the work of a crime writer per se, but rather that its form and content are deeply informed by the racist violence

  13. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

    Directory of Open Access Journals (Sweden)

    Susan Sommerlad


    Full Text Available Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD. This deafness is evident in young pups and may affect one ear (unilateral or both ears (bilateral. The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and possible association of congenital sensorineural deafness with coat colour in ASCD and to identify the genetic locus underpinning this disease.A total of 315 ASCD were tested for sensorineural deafness using the brain stem auditory evoked response (BAER test. Disease penetrance was estimated directly, using the ratio of unilaterally to bilaterally deaf dogs, and segregation analysis was performed using Mendel. A complete genome screen was undertaken using 325 microsatellites spread throughout the genome, on a pedigree of 50 BAER tested ASCD in which deafness was segregating. Fifty-six dogs (17.8% were deaf, with 17 bilaterally and 39 unilaterally deaf. Unilaterally deaf dogs showed no significant left/right bias (p = 0.19 and no significant difference was observed in frequencies between the sexes (p = 0.18. Penetrance of deafness was estimated as 0.72. Testing the association of red/blue coat colour and deafness without accounting for pedigree structure showed that red dogs were 1.8 times more likely to be deaf (p = 0.045. The within family association between red/blue coat colour and deafness was strongly significant (p = 0.00036, with red coat colour segregating more frequently with deafness (COR = 0.48. The relationship between deafness and coat speckling approached significance (p = 0.07, with the lack of statistical significance possibly due to only four families co-segregating for both deafness and speckling. The deafness phenotype was mapped to CFA10 (maximum linkage peak on CFA10 -log10 p-value = 3.64, as was both coat colour and

  14. A Contemporary Introduction to Essential Oils: Chemistry, Bioactivity and Prospects for Australian Agriculture

    Directory of Open Access Journals (Sweden)

    Nicholas Sadgrove


    Full Text Available This review is a comprehensive introduction to pertinent aspects of the extraction methodology, chemistry, analysis and pharmacology of essential oils, whilst providing a background of general organic chemistry concepts to readers from non-chemistry oriented backgrounds. Furthermore, it describes the historical aspects of essential oil research whilst exploring contentious issues of terminology. This follows with an examination of essential oil producing plants in the Australian context with particular attention to Aboriginal custom use, historical successes and contemporary commercial prospects. Due to the harsh dry environment of the Australian landmass, particularly to the cyclical climatic variation attendant upon repeated glaciation/post-glaciation cycles, the arid regions have evolved a rich assortment of unique endemic essential oil yielding plants. Though some of these aromatic plants (particularly myrtaceous species have given birth to commercially valuable industries, much remains to be discovered. Given the market potential, it is likely that recent discoveries in our laboratory and elsewhere will lead to new product development. This review concludes with an emphasis on the use of chemotaxonomy in selection of commercially viable cultivar chemotypes from the Australian continent. Finally, drawing largely from our own results we propose a list of Australian endemic species with novel commercial potential.

  15. Will Australians pay for health care advice from a community pharmacist? A video vignette study. (United States)

    Sriram, Deepa; McManus, Alexandra; Emmerton, Lynne; Jiwa, Moyez


    Large proportion of Australians have access to pharmacists' health advice at no cost. The impact of a proposed co-payment levy for general practitioner (GP) consultation by Australian government is unclear. This raises an interesting question about consumers' perceived value of health-related consultations. This survey of representative sample of Western Australians explores the hypothesis that Australians are willing to pay for advanced model of pharmacy consultation. Two videos illustrating current-services and quality-enhanced-service (QES) incorporating systematic assessment of symptoms and referral to GP if necessary, were used. Participants viewed videos online and completed a willingness-to-pay (WTP) questionnaire about their perception and WTP for each service. Logistic regression and McNemar tests were used to identify WTP groups. Of the 175 respondents, one in nine (19/175, 11%) were willing to pay and (35/175) 20% might consider paying for advice at pharmacies as per current-practice. Almost one in four (49/175, 28%) were willing to pay and (47/175) 27% would consider paying for QES (McNemar Test P pay for consultation at pharmacies that offers more private, time-intensive experience with documented GP referral where required. Further research is warranted to test WTP with actual customers to confirm these results. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Introducing BASE: the Biomes of Australian Soil Environments soil microbial diversity database. (United States)

    Bissett, Andrew; Fitzgerald, Anna; Meintjes, Thys; Mele, Pauline M; Reith, Frank; Dennis, Paul G; Breed, Martin F; Brown, Belinda; Brown, Mark V; Brugger, Joel; Byrne, Margaret; Caddy-Retalic, Stefan; Carmody, Bernie; Coates, David J; Correa, Carolina; Ferrari, Belinda C; Gupta, Vadakattu V S R; Hamonts, Kelly; Haslem, Asha; Hugenholtz, Philip; Karan, Mirko; Koval, Jason; Lowe, Andrew J; Macdonald, Stuart; McGrath, Leanne; Martin, David; Morgan, Matt; North, Kristin I; Paungfoo-Lonhienne, Chanyarat; Pendall, Elise; Phillips, Lori; Pirzl, Rebecca; Powell, Jeff R; Ragan, Mark A; Schmidt, Susanne; Seymour, Nicole; Snape, Ian; Stephen, John R; Stevens, Matthew; Tinning, Matt; Williams, Kristen; Yeoh, Yun Kit; Zammit, Carla M; Young, Andrew


    Microbial inhabitants of soils are important to ecosystem and planetary functions, yet there are large gaps in our knowledge of their diversity and ecology. The 'Biomes of Australian Soil Environments' (BASE) project has generated a database of microbial diversity with associated metadata across extensive environmental gradients at continental scale. As the characterisation of microbes rapidly expands, the BASE database provides an evolving platform for interrogating and integrating microbial diversity and function. BASE currently provides amplicon sequences and associated contextual data for over 900 sites encompassing all Australian states and territories, a wide variety of bioregions, vegetation and land-use types. Amplicons target bacteria, archaea and general and fungal-specific eukaryotes. The growing database will soon include metagenomics data. Data are provided in both raw sequence (FASTQ) and analysed OTU table formats and are accessed via the project's data portal, which provides a user-friendly search tool to quickly identify samples of interest. Processed data can be visually interrogated and intersected with other Australian diversity and environmental data using tools developed by the 'Atlas of Living Australia'. Developed within an open data framework, the BASE project is the first Australian soil microbial diversity database. The database will grow and link to other global efforts to explore microbial, plant, animal, and marine biodiversity. Its design and open access nature ensures that BASE will evolve as a valuable tool for documenting an often overlooked component of biodiversity and the many microbe-driven processes that are essential to sustain soil function and ecosystem services.

  17. Gender Gaps in Indigenous Socioeconomic Outcomes: Australian Regional Comparisons and International Possibilities

    Directory of Open Access Journals (Sweden)

    Nicholas Biddle


    Full Text Available International literature clearly demonstrates the potential for gender-based inequalities to constrain development processes. In the United Nations Development Programme Gender-related Development Index, Australia ranks in the top five across 177 countries, suggesting that the loss of human development due to gender inequality is minor. However, such analysis has not been systematically applied to the Indigenous Australian population, at least in a quantitative sense. Using the 2006 Australian Census, this paper provides an analysis across three dimensions of socioeconomic disparity: Indigeneity, gender, and geography. This paper also explores the development of a similar gender-related index as a tool to enable a relative ranking of the performance of Indigenous males and females at the regional level across a set of socioeconomic outcomes.The initial findings suggest that although there is a substantial development gap between Indigenous and non-Indigenous Australians, the development loss from gender-related inequality for Indigenous Australians is relatively small. Higher life expectancy and education attainment for Indigenous females balances out their slightly lower earnings to a large extent. At the regional level, Indigenous females tend to fare better than Indigenous males for the set of indicators chosen; and, this is particularly true in capital cities.

  18. The Koori Growing Old Well Study: investigating aging and dementia in urban Aboriginal Australians. (United States)

    Radford, Kylie; Mack, Holly A; Robertson, Hamish; Draper, Brian; Chalkley, Simon; Daylight, Gail; Cumming, Robert; Bennett, Hayley; Jackson Pulver, Lisa; Broe, Gerald A


    Dementia is an emerging health priority in Australian Aboriginal communities, but substantial gaps remain in our understanding of this issue, particularly for the large urban section of the population. In remote Aboriginal communities, high prevalence rates of dementia at relatively young ages have been reported. The current study is investigating aging, cognitive decline, and dementia in older urban/regional Aboriginal Australians. We partnered with five Aboriginal communities across the eastern Australian state of New South Wales, to undertake a census of all Aboriginal men and women aged 60 years and over residing in these communities. This was followed by a survey of the health, well-being, and life history of all consenting participants. Participants were also screened using three cognitive instruments. Those scoring below designated cut-offs, and a 20% random sample of those scoring above (i.e. "normal" range), completed a contact person interview (with a nominated family member) and medical assessment (blind to initial screening results), which formed the basis of "gold standard" clinical consensus determinations of cognitive impairment and dementia. This paper details our protocol for a population-based study in collaboration with local Aboriginal community organizations. The study will provide the first available prevalence rates for dementia and cognitive impairment in a representative sample of urban Aboriginal people, across city and rural communities, where the majority of Aboriginal Australians live. It will also contribute to improved assessment of dementia and cognitive impairment and to the understanding of social determinants of successful aging, of international significance.

  19. Mitochondrial DNA diversity of present-day Aboriginal Australians and implications for human evolution in Oceania. (United States)

    Nagle, Nano; Ballantyne, Kaye N; van Oven, Mannis; Tyler-Smith, Chris; Xue, Yali; Wilcox, Stephen; Wilcox, Leah; Turkalov, Rust; van Oorschot, Roland A H; van Holst Pellekaan, Sheila; Schurr, Theodore G; McAllister, Peter; Williams, Lesley; Kayser, Manfred; Mitchell, R John


    Aboriginal Australians are one of the more poorly studied populations from the standpoint of human evolution and genetic diversity. Thus, to investigate their genetic diversity, the possible date of their ancestors' arrival and their relationships with neighboring populations, we analyzed mitochondrial DNA (mtDNA) diversity in a large sample of Aboriginal Australians. Selected mtDNA single-nucleotide polymorphisms and the hypervariable segment haplotypes were analyzed in 594 Aboriginal Australians drawn from locations across the continent, chiefly from regions not previously sampled. Most (~78%) samples could be assigned to mtDNA haplogroups indigenous to Australia. The indigenous haplogroups were all ancient (with estimated ages >40 000 years) and geographically widespread across the continent. The most common haplogroup was P (44%) followed by S (23%) and M42a (9%). There was some geographic structure at the haplotype level. The estimated ages of the indigenous haplogroups range from 39 000 to 55 000 years, dates that fit well with the estimated date of colonization of Australia based on archeological evidence (~47 000 years ago). The distribution of mtDNA haplogroups in Australia and New Guinea supports the hypothesis that the ancestors of Aboriginal Australians entered Sahul through at least two entry points. The mtDNA data give no support to the hypothesis of secondary gene flow into Australia during the Holocene, but instead suggest long-term isolation of the continent.

  20. A retrospective analysis of oral and maxillofacial pathology in an Australian paediatric population. (United States)

    Ha, W N; Kelloway, E; Dost, F; Farah, C S


    The prevalence of oral and maxillofacial pathology has not previously been reported in the Australian paediatric population. This study aimed to audit a large pathology service to provide insight into the prevalence of oral and maxillofacial pathology. Written records of a major Australian oral pathology service were imported into an electronic database. Age, gender and histological diagnosis were assessed. Prevalence of histological diagnoses as a percentage of the major diagnostic categories and of the whole sample were calculated, as well as gender predilections and mean age of presentation of disease. A total of 1305 oral pathology specimens, collected from paediatric patients aged 16 and under were included in the analysis. The most common pathology was dental pathology (24.4%), followed by odontogenic cysts (18.5%) and mucosal pathology (17.0%). The most frequently encountered lesion was the dentigerous cyst (9.4%), followed by fibrous hyperplasia (8.3%), radicular cyst (5.2%) and chronic periapical granuloma (5.2%). In the paediatric population, dental pathology and specifically, the dentigerous cyst is the most common pathology type sent for histopathology, suggesting a high prevalence of pathology of dental origin occurring in Australian children. © 2014 Australian Dental Association.

  1. The politics of accountability for school curriculum: An Australian case study (United States)

    Smithson, Alan


    This normative-descriptive case study of accountability for state school curriculum in South Australia has the following objectives. First, to seek to draw a distinction between accountability and responsibility: terms which have been confused by two South Australian Directors-General of Education (position akin to C.E.O. in the U.K. and Superintendent in the U.S.A.) with important consequences. Second, to present a model of accountability for state school curriculum, by which accountability for such curriculum may be judged democratic or non-democratic, and against which accountability for curriculum in South Australian state schools will be gauged. Third, to show that whilst the South Australian school system exhibits a large measure of bureaucratic or technocratic accountability for curriculum, there is no effective democratic accountability for curriculum, and to indicate a remedy for this situation. Finally, to point out the wider significance of the South Australian case study, and suggest that democracies currently re-structuring their educational systems would do well to keep the need for democratic accountability foremost in mind.

  2. Footprints, Imprints: Seeing Environmentalist and Buddhist Marie Byles as an Eastern Australian

    Directory of Open Access Journals (Sweden)

    Allison Jane Cadzow


    Full Text Available This paper looks at the Australian author, traveller, conservationist and Buddhist Marie Byles (1900-1979 as “eastern” and Australian at once. It investigates the influence of Buddhist spirituality and travel on her approach to the environment and explores some possibilities arising from looking at her work as part of a broader transnational humanitarian and intellectual identification, moving beyond ethnicity based boundaries. Thinking about eastern Australian identities can encourage consideration of Australia in Asia, Australia as Asian, connections across seas, and links and differences within Australia. The paper explores Marie Byles as an eastern Australian by considering her travel in Sydney and the region (in Australia, China, Vietnam, India and Burma from the 1930s to the 1960s, the design and use of her home as a hub for early Buddhist meetings, her publication of texts discussing Eastern philosophy, and her environmental activism. Throughout the discussion Byles’s understanding of power relations, derived from an entwining of feminist and socialist ideas, a pacifist and Buddhist/spiritualist revaluation of environments emerges. From these influences she provided challenges to her fellow walkers, environmentalists, and society at large to rethink relationships with nature and each other, insights that have yet to be adequately explored and recognised.

  3. Rising dough and baking bread at the Australian synchrotron (United States)

    Mayo, S. C.; McCann, T.; Day, L.; Favaro, J.; Tuhumury, H.; Thompson, D.; Maksimenko, A.


    Wheat protein quality and the amount of common salt added in dough formulation can have a significant effect on the microstructure and loaf volume of bread. High-speed synchrotron micro-CT provides an ideal tool for observing the three dimensional structure of bread dough in situ during proving (rising) and baking. In this work, the synchrotron micro-CT technique was used to observe the structure and time evolution of doughs made from high and low protein flour and three different salt additives. These experiments showed that, as expected, high protein flour produces a higher volume loaf compared to low protein flour regardless of salt additives. Furthermore the results show that KCl in particular has a very negative effect on dough properties resulting in much reduced porosity. The hundreds of datasets produced and analysed during this experiment also provided a valuable test case for handling large quantities of data using tools on the Australian Synchrotron's MASSIVE cluster.

  4. Wireline tractor production logging experience in Australian horizontal wells

    Energy Technology Data Exchange (ETDEWEB)

    Local, E.; Searight, T. L.


    Australian experiences with the development of new wireline tractor technology and its successful application to deploy production logging tools in horizontal wells was discussed. Dynamics of the tractor operations have been modelled and the model was validated with field data. The field data was also used to quantify borehole friction coefficients. Successful application in the field indicates that the tough tubing capability of the tractor, combined with its capacity to drive in large casing sizes, makes wireline deployment possible in a wide range of well completions. Work on a number of new applications such as the capability to negotiate complex downhole hardware, and to intervene in completions with widely differing tubing diameters, is in progress. 5 refs., 1 tab., 10 figs.

  5. Venom Down Under: Dynamic Evolution of Australian Elapid Snake Toxins (United States)

    Jackson, Timothy N. W.; Sunagar, Kartik; Undheim, Eivind A. B.; Koludarov, Ivan; Chan, Angelo H. C.; Sanders, Kate; Ali, Syed A.; Hendrikx, Iwan; Dunstan, Nathan; Fry, Bryan G.


    Despite the unparalleled diversity of venomous snakes in Australia, research has concentrated on a handful of medically significant species and even of these very few toxins have been fully sequenced. In this study, venom gland transcriptomes were sequenced from eleven species of small Australian elapid snakes, from eleven genera, spanning a broad phylogenetic range. The particularly large number of sequences obtained for three-finger toxin (3FTx) peptides allowed for robust reconstructions of their dynamic molecular evolutionary histories. We demonstrated that each species preferentially favoured different types of α-neurotoxic 3FTx, probably as a result of differing feeding ecologies. The three forms of α-neurotoxin [Type I (also known as (aka): short-chain), Type II (aka: long-chain) and Type III] not only adopted differential rates of evolution, but have also conserved a diversity of residues, presumably to potentiate prey-specific toxicity. Despite these differences, the different α-neurotoxin types were shown to accumulate mutations in similar regions of the protein, largely in the loops and structurally unimportant regions, highlighting the significant role of focal mutagenesis. We theorize that this phenomenon not only affects toxin potency or specificity, but also generates necessary variation for preventing/delaying prey animals from acquiring venom-resistance. This study also recovered the first full-length sequences for multimeric phospholipase A2 (PLA2) ‘taipoxin/paradoxin’ subunits from non-Oxyuranus species, confirming the early recruitment of this extremely potent neurotoxin complex to the venom arsenal of Australian elapid snakes. We also recovered the first natriuretic peptides from an elapid that lack the derived C-terminal tail and resemble the plesiotypic form (ancestral character state) found in viper venoms. This provides supporting evidence for a single early recruitment of natriuretic peptides into snake venoms. Novel forms of kunitz

  6. USGS analysis of the Australian UNCLOS submission (United States)

    Hutchinson, Deborah R.; Rowland, Robert W.


    In November 2004, the Government of Australia made a submission to the Commission on the Limits of the Continental Shelf (CLCS) for 10 extended continental shelf (ECS) regions, utilizing Article-76 of the United Nations Convention on the Law of the Sea (UNCLOS). With information provided in the Australian Executive Summary, the USGS examined the 10 regions of the submission from geological, morphological, and resource perspectives. By their own request, the Australians asked that CLCS take no action on the Australian-Antarctic Territory. The major limitation in this analysis is that no bathymetric soundings or detailed hydrographic profiles were provided in the Australian Executive Summary that might show why the Foot of the Slope (FOS) was chosen or where the 2,500-m contour is located. This represents a major limitation because more than half of the 4,205 boundary points utilize the bathymetric formula line and more than one-third of them utilize the bathymetric constraint line. CLCS decisions on the components of this submission may set a precedent for how ECSs are treated in future submissions. Some of the key decisions will cover (a) how a 'natural prolongation' of a continental margin is determined, particularly if a bathymetric saddle that appears to determine the prolongation is in deep water and is well outside of the 200-nm limit (Exmouth Plateau), (b) defining to what extent that plateaus, rises, caps, banks and spurs that are formed of oceanic crust and from oceanic processes can be considered to be 'natural prolongations' (Kerguelen Plateau), (c) to what degree UNCLOS recognizes reefs and uninhabited micro-islands (specifically, rocks and/or sand shoals) as islands that can have an EEZ (Middleton and Elizabeth Reefs north of Lord Howe Island), and (d) how the Foot of the Slope (FOS) is chosen (Great Australian Bight). The submission contains situations that are relevant to potential future U.S. submissions and are potentially analogous to certain

  7. Repositioning interprofessional education from the margins to the centre of Australian health professional education ? what is required? (United States)

    Dunston, Roger; Forman, Dawn; Thistlethwaite, Jill; Steketee, Carole; Rogers, Gary D; Moran, Monica


    Objective This paper examines the implementation and implications of four development and research initiatives, collectively titled the Curriculum Renewal Studies program (CRS), occurring over a 6-year period ending in 2015 and focusing on interprofessional education (IPE) within Australian pre-registration health professional education. Methods The CRS was developed as an action-focused and participatory program of studies. This research and development program used a mixed-methods approach. Structured survey, interviews and extensive documentary analyses were supplemented by semi-structured interviews, focus groups, large group consultations and consensus building methods. Narrative accounts of participants' experiences and an approach to the future development of Australian IPE were developed. Results Detailed accounts of existing Australian IPE curricula and educational activity were developed. These accounts were published and used in several settings to support curriculum and national workforce development. Reflective activities engaging with the findings facilitated the development of a national approach to the future development of Australian IPE - a national approach focused on coordinated and collective governance and development. Conclusion This paper outlines the design of an innovative approach to national IPE governance and development. It explores how ideas drawn from sociocultural theories were used to guide the choice of methods and to enrich data analysis. Finally, the paper reflects on the implications of CRS findings for health professional education, workforce development and the future of Australian IPE. What is known about the topic? IPE to enable the achievement of interprofessional and collaborative practice capabilities is widely accepted and promoted. However, many problems exist in embedding and sustaining IPE as a system-wide element of health professional education. How these implementation problems can be successfully addressed is a

  8. The nature and classification of Australian soils affected by sodium (United States)

    Murphy, Brian; Greene, Richard; Harms, Ben


    Large areas of Australia are affected by the processes of salinity and sodicity and they are important processes to understand as they can result in the degradation of agricultural lands used for both intensive cropping and extensive grazing practices. Sodic soils are defined as those having ESP of at least 6% in Australia. Northcote and Skene (1972) estimated that of Australia's total area of 770 M ha, 39 M ha was affected by salinity and 193-257 M ha by sodicity. However, in a more recent publication, Rengasamy (2006), quoted the areas of saline and sodic soils as 66 M ha and 340 M ha respectively. The soils affected by sodium in Australia include a large group of contrasting soils (Northcote and Skene 1972). Based on the Australian soil classification, included are: • Alkaline strongly sodic to sodic clay soils with uniform texture profiles - largely Vertosols 666 400 km2 • Alkaline strongly sodic to sodic coarse and medium textured soils with uniform and gradational texture profiles - largely Calcarosols 600 700 km2 • Alkaline strongly sodic to sodic texture contrast soils - largely Sodosols 454 400 km2 • Non-alkaline sodic and strongly sodic neutral texture contrast soils - largely Sodosols 134 700 km2 • Non-alkaline sodic acid texture contrast soils - Sodosols and Kurosols 140 700 km2 Many Australian sodic soils have not developed by the traditional solonetz process of leaching of a solonchak, but rather have developed by the accumulation of sodium on the cation exchange complex in preference to the other exchangeable cations without any recognisable intermediate saline phase occurring. This is especially the case for the sodic, non-alkaline texture contrast soils or Sodosols. The major sodic soil group in WRB is the Solonetz soils. These require the presence of a Natric horizon which has to contain illuviated clay and at least 15% ESP. However, there is provision for Sodic qualifiers with at least 6% ESP for many other reference Soil Groups

  9. Building an Internet of Samples: The Australian Contribution (United States)

    Wyborn, Lesley; Klump, Jens; Bastrakova, Irina; Devaraju, Anusuriya; McInnes, Brent; Cox, Simon; Karssies, Linda; Martin, Julia; Ross, Shawn; Morrissey, John; Fraser, Ryan


    Physical samples are often the ground truth to research reported in the scientific literature across multiple domains. They are collected by many different entities (individual researchers, laboratories, government agencies, mining companies, citizens, museums, etc.). Samples must be curated over the long-term to ensure both that their existence is known, and to allow any data derived from them through laboratory and field tests to be linked to the physical samples. For example, having unique identifiers that link back ground truth data on the original sample helps calibrate large volumes of remotely sensed data. Access to catalogues of reliably identified samples from several collections promotes collaboration across all Earth Science disciplines. It also increases the cost effectiveness of research by reducing the need to re-collect samples in the field. The assignment of web identifiers to the digital representations of these physical objects allows us to link to data, literature, investigators and institutions, thus creating an "Internet of Samples". An Australian implementation of the "Internet of Samples" is using the IGSN (International Geo Sample Number, to identify samples in a globally unique and persistent way. IGSN was developed in the solid earth science community and is recommended for sample identification by the Coalition for Publishing Data in the Earth and Space Sciences (COPDESS). IGSN is interoperable with other persistent identifier systems such as DataCite. Furthermore, the basic IGSN description metadata schema is compatible with existing schemas such as OGC Observations and Measurements (O&M) and DataCite Metadata Schema which makes crosswalks to other metadata schemas easy. IGSN metadata is disseminated through the Open Archives Initiative Protocol for Metadata Harvesting (OAI-PMH) allowing it to be aggregated in other applications such as portals (e.g. the Australian IGSN catalogue The

  10. Building Commitment: An Examination of Learning Climate Congruence and the Affective Commitment of Academics in an Australian University (United States)

    Southcombe, Amie; Fulop, Liz; Carter, Geoff; Cavanagh, Jillian


    The purpose of this study is to explore the relationship between learning climate congruence and the affective commitment of university academics. The strategy of inquiry for this research is quantitative, involving a non-experimental design for the survey research. A non-probability sample of 900 academics from a large Australian university was…

  11. Vietnamese Textual Methodologies: A Comparison of Australian with Swedish and New Zealand Early Childhood Visual Literacy Contexts (United States)

    Gilmore, Gwen; Truong, Thi My Dung; Reilly, Michelle


    For preservice teachers in early childhood education, having a rich exposure to multiple forms of literacy in diverse communities is an essential dimension of their teacher education. In this study, 10 Australian preservice early childhood education students, in the first year of their course, visit two early childhood settings in a large city in…

  12. Australian bat lyssavirus: implications for public health. (United States)

    Francis, Joshua R; McCall, Bradley J; Hutchinson, Penny; Powell, Jodie; Vaska, Vikram L; Nourse, Clare


    Australian bat lyssavirus (ABLV) infection in humans is rare but fatal, with no proven effective therapy. ABLV infection can be prevented by administration of a post-exposure prophylaxis regimen of human rabies immunoglobulin and rabies vaccine. All Australian bats (flying foxes and microbats) should be considered to be carrying ABLV unless proven otherwise. Any bat-related injury (bite, scratch or mucosal exposure to bat saliva or neural tissue) should be notified immediately to the relevant public health unit - no matter how small the injury or how long ago it occurred. Human-to-human transmission of ABLV has not been reported but is theoretically possible. Standard infection control precautions should be employed when managing patients with suspected or confirmed ABLV infection.

  13. Australian mineral industry annual review for 1986

    Energy Technology Data Exchange (ETDEWEB)


    This volume of the Australian Mineral Industry Annual Review records the development and performance of the industry during the calendar year 1986. It reports production, consumption, treatment, trade, prices, new developments, exploration, and resources for mineral commodities including fuels, and summarises equivalent developments abroad. Part 1, 'General Review', after briefly surveying the world mineral industry, summarises developments in the Australian mineral industry as a whole. Part 2, 'Commodity Review', covers individual mineral commodities and commodity groups including brown coal, black coal and peat. Part 3, 'Mining Census', tabulates statistics extracted from the Mining Census, together with some mineral processing statistics from the Manufacturing Census. Part 4, tabulates quantity and value data on mineral output provided by the State departments of mines and their equivalents. The commodity review of black coal has been abstracted separately.

  14. Accelerators for the Australian environment and heritage

    International Nuclear Information System (INIS)

    Tuniz, C.


    Australian researchers have access to a variety of natural systems where records of the Earth's past environment have been stored. These archives include sediment cores, Antarctic ice, Tasmanian pine trees, rock surfaces, corals, etc. Each of these media contain information on past environmental conditions but the records must be carefully deciphered and compared with one-another. The AMS analysis of long-lived cosmogenic radionuclides is essential for providing absolute time scales for these natural archives. Other analytical methods based on high-energy ion interactions are well suited to characterise environmental and archaeological samples with high sensitivity. The use of ANSTO's accelerators in research programs related to the environment in the Australian region is reviewed

  15. Decolonising Australian Psychology: Discourses, Strategies, and Practice

    Directory of Open Access Journals (Sweden)

    Pat Dudgeon


    Full Text Available Colonisation in Australia has had a devastating and lasting impact on the wellbeing of Aboriginal and Torres Strait Islander peoples in Australia (herein referred to as Indigenous Australians. This paper discusses the role of psychology in Australia and the negative impact that certain disciplinary theories and practices have had on Indigenous Australians. The impact has been further exacerbated by the failure of mainstream policy makers and mental health practitioners to recognise the key, distinctive cultural and social determinants that contribute to Aboriginal health and wellbeing. There is a growing response by Aboriginal psychologists, critical social theorists, and their allies to decolonise psychological theory and practice to redress this situation. This paper outlines key decolonising strategies that have been effective in interrupting those aspects of psychology that are inimical to Aboriginal wellbeing.

  16. Australian Industry Development Corporation annual report 1984

    Energy Technology Data Exchange (ETDEWEB)


    AIDC is a statutory corporation wholly owned and guaranteed by the Commonwealth of Australia. Its objects are to promote Australian industry and Australian ownership in industry. The corporation is a financial enterprise operating on commercial principles. It is engaged in the business of borrowing money, making loans and making equity investments. It also provides related financial advisory and other services, including lead management of syndicated project financings. This annual report looks at the highlights of 1983/84; a five year summary of operations; lists the Board of Directors; some executives; includes a Directors report on development finance, industry and funds management; a management structure; statistical tables; executives and a 22 page financial statement.

  17. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Yuan Huijun; Chen Jing; Liu Xin; Cheng Jing; Wang Xinjian; Yang Li; Yang Shuzhi; Cao Juyang; Kang Dongyang; Dai Pu; Zha, Suoqiang; Han Dongyi; Young Wieyen; Guan Minxin


    Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 20% and 18%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 10% and 15%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T and CO1/tRNA Ser(UCN) G7444A mutations. Their distinct sets of mtDNA polymorphism belonged to Eastern Asian haplogroup C4a1, while other previously identified six Chinese mitochondrial genomes harboring the C1494T mutation belong to haplogroups D5a2, D, R, and F1, respectively. This suggested that the C1494T or G7444A mutation occurred sporadically and multiplied through evolution of the mitochondrial DNA (mtDNA). The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the 12S rRNA C1494T and CO1/tRNA Ser(UCN) G7444A mutations in those Chinese families. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families

  18. Nature Study, Aborigines and the Australian Kindergarten: Lessons from Martha Simpson's "Australian Programme Based on the Life and Customs of the Australian Black" (United States)

    Jones, Jennifer


    This article examines an experimental kindergarten programme "Work in the Kindergarten: An Australian Programme based on the Life and Customs of the Australian Black" developed by Martha Simpson in early twentieth-century Australia. Here Simpson adapted international Revisionist Froebelian approaches to cultural epoch theory and nature…

  19. Do Momentum Strategies Work?: - Australian Evidence


    Michael E. Drew; Madhu Veeraraghavan; Min Ye


    This paper investigates the profitability of momentum investment strategy and the predictive power of trading volume for equities listed in the Australian Stock Exchange. Recent research finds that momentum and trading volume appear to predict subsequent returns in U.S. market and past volume helps to reconcile intermediate-horizon “under reaction” and long-horizon “overreaction” effects. However, bulk of the evidence on this important relationship between past returns and future returns is l...

  20. Australian coal exports - threat to market share

    Energy Technology Data Exchange (ETDEWEB)

    James, P


    Australian coal exports fell 3% for the fiscal year ending June 1989, but at just under 100mt, they make Australia the world's leading coal exporter. Figures for production, consumption and exports are given. Industrial and structural changes within the industry are discussed. It is concluded that the industry and unions must improve structures and communication if potential production and exports are to be achieved. 2 figs.

  1. Inventories in the Australian business cycle


    Chindamo, Phillip


    This Economics Research Note examines inventories in the business cycle for Australia covering the period since the mid 1980s. The Australian Bureau of Statistics (ABS) defines inventories as all materials etc., work in progress and finished goods owned by a business, whether held at locations of the business or elsewhere. These items are usually held by businesses in anticipation of a product’s sale. Inventory investment is counted as an additional contribution to gross domestic product (...

  2. The Australian synchrotron - a progress report

    International Nuclear Information System (INIS)

    Boldeman, J.; Jackson, A.; Seaborne, G.; Hobbs, R.; Garrett, R.


    This paper summarises progress with the development of the Australian Synchrotron. The facility is based on the Boomerang Storage Ring which has a DBA structure with 14 superperiods. The design objective was to achieve a low emittance in a relatively compact circumference that had an excellent dynamic aperture and was obust with respect to potential construction aberrations. The potential suite of beamline and instrument stations is discussed and some examples are given

  3. Farming fit? Dispelling the Australian agrarian myth

    Directory of Open Access Journals (Sweden)

    McCoombe Scott


    Full Text Available Abstract Background Rural Australians face a higher mental health and lifestyle disease burden (obesity, diabetes and cardiovascular disease than their urban counterparts. Our ongoing research reveals that the Australian farming community has even poorer physical and mental health outcomes than rural averages. In particular, farm men and women have high rates of overweightness, obesity, abdominal adiposity, high blood pressure and psychological distress when compared against Australian averages. Within our farming cohort we observed a significant association between psychological distress and obesity, abdominal adiposity and body fat percentage in the farming population. Presentation of hypothesis This paper presents a hypothesis based on preliminary data obtained from an ongoing study that could potentially explain the complex correlation between obesity, psychological distress and physical activity among a farming population. We posit that spasmodic physical activity, changing farm practices and climate variability induce prolonged stress in farmers. This increases systemic cortisol that, in turn, promotes abdominal adiposity and weight gain. Testing the hypothesis The hypothesis will be tested by anthropometric, biochemical and psychological analysis matched against systemic cortisol levels and the physical activity of the subjects. Implications of the hypothesis tested Previous studies indicate that farming populations have elevated rates of psychological distress and high rates of suicide. Australian farmers have recently experienced challenging climatic conditions including prolonged drought, floods and cyclones. Through our interactions and through the media it is not uncommon for farmers to describe the effect of this long-term stress with feelings of 'defeat'. By gaining a greater understanding of the role cortisol and physical activity have on mental and physical health we may positively impact the current rates of psychological

  4. Exploring the professional values of Australian physiotherapists. (United States)

    Aguilar, Alejandra; Stupans, Ieva; Scutter, Sheila; King, Sharron


    A profession's values guide daily practice and professional behaviours. They clarify what professionalism means to a profession, by providing insight into the values that members of the profession aim to uphold and profess. There has been limited research into the values of the Australian physiotherapy profession, and as such, the values that guide practice and constitute professionalism are not explicit. This study aimed to make a preliminary identification of the values of the profession, by exploring the shared professional values of 14 Australian physiotherapists. This study was guided by a qualitative approach and constructivist paradigm. Purposive sampling was employed to identify physiotherapists who could contribute rich information to the study. Semi-structured interviews were conducted and analysed using an inductive data analysis method. The emerging professional values formed three main themes. The first theme, 'the patient and the patient-therapist partnership', incorporated values such as having patient trust and working collaboratively with patients. The theme labelled 'physiotherapy knowledge, skills and practice' included the values of having an evidence base and respecting professional boundaries. The last theme, 'altruistic values', was inclusive of values such as honesty, empathy and caring. The values that emerged went beyond philanthropic values, to values that guided every day practice, professional relationships and the responsibilities of being a professional. The results contribute to research orientated towards identifying the values of the profession and in doing so, clarifying what professionalism means to the Australian physiotherapy profession. Differences between the values identified by the American Physical Therapy Association and the study reported in this paper highlight the importance of identifying the values of the profession within the Australian context. In terms of practice implications, physiotherapists may be prompted to

  5. 13th Australian tunnelling conference. Proceedings

    Energy Technology Data Exchange (ETDEWEB)



    The theme of the conference was 'Engineering in a changing environment'. Topics covered include Australian tunnelling projects, design and development of ground support, tunnelling, international projects, fire and life safety, mining projects, risk management in tunnelling, and tunnel boring machine tunnelling. Papers of particular interest to the coal industry are: improving roadway development in underground coal mine (G. Lewis and G. Gibson), and polymer-based alternative to steel mesh for coal mine strata reinforcement (C. Lukey and others).

  6. Australian mineral industry annual review for 1984

    Energy Technology Data Exchange (ETDEWEB)


    This volume of the Australian Mineral Industry Annual Review records development and performance of the Australian mineral industry during the calendar year 1984. It reports production, consumption, treatment, trade, prices, new developments, exploration, and resources for mineral commodities including fuels, and summarises equivalent developments abroad. Part 1. 'general review' after briefly surveying the world mineral industry, summarises developments in the Australian mineral industry as a whole, under the headings: the industry in the national economy, prices, exploration expenditure, investment, income tax, royalties, structural data, wages and salaries, industrial disputes, and government assistance, legislation, and controls. Part 2. 'commodity review' covers individual mineral commodity groups, from abrasives to zirconium. Part 3, 'mining census', tabulates statistics extracted from the mining census, together with some mineral processing statistics from the manufacturing census. Part 4 tabulates quantity and value data on mineral output provided by state departments of mines and their equivalents. Listed in appendices are: principal mineral producers; ore buyers and mineral dealers; government mining services; analytical laboratories; state mines departments and equivalents; industry, professional and development organisations and associations, etc; summary of mineral royalties payable in the states and territories; and summary of income tax provisions and federal government levies.

  7. Fragranced consumer products: effects on asthmatic Australians. (United States)

    Steinemann, Anne; Wheeler, Amanda J; Larcombe, Alexander


    Exposure to fragranced consumer products, such as air fresheners and cleaning supplies, is associated with adverse health effects such as asthma attacks, breathing difficulties, and migraine headaches. This study investigated the prevalence and types of health problems associated with exposure to fragranced products among asthmatic Australians. Nationally representative cross-sectional data were obtained in June 2016 with an online survey of adult Australians ( n  = 1098), of which 28.5% were medically diagnosed with asthma or an asthma-like condition. Nationally, 55.6% of asthmatics, and 23.9% of non-asthmatics, report adverse health effects after exposure to fragranced products. Specifically, 24.0% of asthmatics report an asthma attack. Moreover, 18.2% of asthmatics lost workdays or a job in the past year due to fragranced products in the workplace. Over 20% of asthmatics are unable to access public places and restrooms that use air fresheners. Exposure to fragranced products is associated with health problems, some potentially serious, in an estimated 2.2 million asthmatic adult Australians. Asthmatics were proportionately more affected than non-asthmatics (prevalence odds ratio 3.98; 95% confidence interval 3.01-5.24). Most asthmatics would prefer workplaces, healthcare facilities, and environments that are fragrance-free, which could help reduce adverse effects.

  8. The Beginnings of Australian Radio Astronomy (United States)

    Sullivan, Woodruff T.

    The early stages of Australian radio astronomy, especially the first decade after World War II, are described in detail. These include the transition of the CSIRO Radiophysics Laboratory, under the leadership of Joseph Pawsey and Taffy Bowen, from a wartime laboratory in 1945 to, by 1950, the largest and one of the two most important radio astronomy groups in the world (with the Cavendish Laboratory at Cambridge University). The initial solar investigations are described, including discovery of the hot corona and development of the sea-cliff interferometer. During this same period painstaking `radio star' observations by John Bolton and colleagues led to the first suggested optical identifications of Taurus-A (the Crab Nebula), Centaurus-A (NGC 5128), and Virgo-A (M87). The factors that led to the extraordinary early success of the Radiophysics Laboratory are analyzed in detail, followed by discussion of how the situation changed significantly in the second decade of 1955-1965. Finally, the development of major Australian instruments, from the Parkes Radio Telescope (1961) to the Australia Telescope (1988), is briefly presented. This chapter is a direct reprint of the following research paper: Sullivan, W., 2005. The beginnings of Australian radio astronomy. Journal of Astronomical History and Heritage, 8, 11-32.

  9. Reporting on cyclist crashes in Australian newspapers. (United States)

    Boufous, Soufiane; Aboss, Ahmad; Montgomery, Victoria


    To assess information on cyclist crashes reported in Australian newspapers. The Factiva news archive was searched for articles on cyclist crashes published in major Australian newspapers between 2010 and 2013. Information on the circumstances of cyclist crashes were extracted and coded. A total of 160 cyclist crashes were covered by 198 newspaper articles, with 44% of crashes resulting in cyclist fatalities. Crashes reported by more than one newspaper were more likely to involve public figures or protracted court cases. Individual characteristics of cyclists as well as the location of the crash were reported for more than 80% of crashes. The road user at fault was reported for more than half of crashes. In contrast, information on helmet use, alcohol and cycling lanes was mentioned for only about 10% of crashes. Fewer than one in five articles mentioned prevention strategies including education campaigns, legislative and infrastructure changes. Australian newspapers tend to focus on the most dramatic and more 'newsworthy' aspects of cyclist crashes. Cycling advocates need to work with journalists to improve the quality of this coverage. Better communication between cycling advocates and journalists is likely to have a positive impact on the safety and the uptake of cycling in the community. © 2016 Public Health Association of Australia.

  10. Optimizing Preseason Training Loads in Australian Football. (United States)

    Carey, David L; Crow, Justin; Ong, Kok-Leong; Blanch, Peter; Morris, Meg E; Dascombe, Ben J; Crossley, Kay M


    To investigate whether preseason training plans for Australian football can be computer generated using current training-load guidelines to optimize injury-risk reduction and performance improvement. A constrained optimization problem was defined for daily total and sprint distance, using the preseason schedule of an elite Australian football team as a template. Maximizing total training volume and maximizing Banister-model-projected performance were both considered optimization objectives. Cumulative workload and acute:chronic workload-ratio constraints were placed on training programs to reflect current guidelines on relative and absolute training loads for injury-risk reduction. Optimization software was then used to generate preseason training plans. The optimization framework was able to generate training plans that satisfied relative and absolute workload constraints. Increasing the off-season chronic training loads enabled the optimization algorithm to prescribe higher amounts of "safe" training and attain higher projected performance levels. Simulations showed that using a Banister-model objective led to plans that included a taper in training load prior to competition to minimize fatigue and maximize projected performance. In contrast, when the objective was to maximize total training volume, more frequent training was prescribed to accumulate as much load as possible. Feasible training plans that maximize projected performance and satisfy injury-risk constraints can be automatically generated by an optimization problem for Australian football. The optimization methods allow for individualized training-plan design and the ability to adapt to changing training objectives and different training-load metrics.

  11. Exposure to radon in Australian tourist caves

    International Nuclear Information System (INIS)

    Solomon, S.B.; Langroo, R.; Lyons, R.G.


    In 1991 the International Commission on Radiological Protection(ICRP) produced guidelines and recommendations dealing with workplace exposure to elevated background radiation, in particular, the risk associated with the inhalation of radon and radon progeny. An intervention level of 1000 Bq m -3 has been proposed. Australia has over 40 tourist caves, under the management of the various State Departments or private groups. The limited data available on radon levels in Australian caves would suggest that some of these caves may be in excess of the proposed intervention level, thus presenting a potential health risk for the cave guides. This paper summarises the current information on radon in Australian caves and describes the proposed methodologies to be used for a Worksafe Australia-funded survey of radon levels in Tourist caves within Australia. This survey is to be carried out jointly by researchers at the Australian Radiation Laboratory, University of Auckland and the University of Sydney, during 1994 and 1995. 7 refs., 3 tabs

  12. Australian health professionals' health website recommendation trends. (United States)

    Usher, Wayne T


    This study was concerned with indentifying motivations and trends associated with a health website recommendation from eight of Australia's major health professions to the health consumer. Health professions included in this study are: psychiatrists, general practitioners, social workers, dietitians, chiropractors, physiotherapists, optometrists and pharmacists. An online survey ( was developed from a common set of questions negotiated between all eight health professions. Survey questions were constructed in an attempt to identify participants' reasons for or against recommending a health website to a patient. A 5-point scale (not, slightly, neutral, moderately, strongly) to measure influence was used throughout the question set. This study indicates that Australian general practitioners (GPs) were the highest Australian health professionals to undertake a health website recommendation (86%), followed by psychiatrists (80%), with the lowest being physiotherapists (42%) and optometrists (33%). A profile of the Australian health professional who recommends a health website is identified as male, aged above 50 years, has had more than 10 years experience, works in a major city, is in private practice and has patient numbers exceeding 500 in a 12-month period (2009). Recommendations from this study include the need to develop mechanisms that identify high-quality online medical information and the development and implementation of Continuing Professional Development (CPD) courses which up-skill health professionals concerning the recommendation of health websites for health care delivery.

  13. Outlook for the Australian coal market

    International Nuclear Information System (INIS)



    A shortage of bituminous coal is now being witnessed on the world market, which stems from an increase in demand for it. The prices for bituminous coal, which have been increasing since 1988, will continue to rise in 1990. World coal production in 1989/1990 has been estimated by the Australian Bureau of Mineral Resources at 3,370 million tons, which is 50 million tons more than in the preceding year. Australian experts predict a doubling in world demand for coal by 2025. Many Australian coal mining companies, counting on the increased demand in the future, are taking measures to consolidate production and strengthen their financial base in order to accelerate development of new fields or expand production at existing mines. It is expected that the highest rates of growth in demand will be for power coal. Because of increased world production of steel the demand for coking coal will also rise, but the rates of growth will be much lower than for power coal

  14. Perspective of Australian uncooled IR sensor technology (United States)

    Liddiard, Kevin C.


    This paper presents an overview of the development in Australia of resistance bolometer technology and associated uncooled infrared sensors. A summary is given of research achievements, with the aim of placing in historic perspective Australian work in comparison with overseas research and development. Extensive research in this field was carried out at the Defence Science and Technology Organisation (DSTO), Salisbury, South Australia, in collaboration with the Australian microelectronic and electro-optic industries, with supporting research in Australian universities. The DSTO research has a history covering five decades, commencing with simple thin film bolometers employed in radiometric sensors, followed by protracted R&D culminating in development of micromachined focal plane detector arrays for non-imaging sensors and lightweight thermal imagers. DSTO currently maintains a microbolometer processing capability for the purposes of research collaboration and support for commercial initiatives based on patented technology. Expertise in microbolometer design, performance and processing technology has transferred to Electro-optic Sensor Design (EOSD) through a licensing agreement. Contemporary development will be described.

  15. The Australian Centre for Minesite Rehabilitation Research

    International Nuclear Information System (INIS)

    Bell, L.C.


    The Australian Centre for Minesite Rehabilitation Research (ACMRR) is a joint venture between the Australian mining industry through the Australian Mineral Industries Research Association Ltd. (AMIRA) and three of the organizations working most actively in this area in Australia: CSIRO Minesite Rehabilitation Research Program; University of Queensland Centre for Mined Land Rehabilitation; and Curtin University Mulga Research Centre. The ACMRR was established in July 1993 to provide a national framework to conduct Strategic Research into minesite rehabilitation. It is an industry led and funded initiative. The Goals of the Centre include: to conduct strategic research into minesite rehabilitation to provide sustainable environmental solutions which are acceptable to industry, government and the community; to be recognized as a center of excellence undertaking commissioned research on minesite rehabilitation in an independent and thorough manner; to provide scientific and technological foundations to facilitate industry and government in setting acceptable standards; to act as networking and communications focus; and to enhance education and training in minesite rehabilitation. Strategic Research Programs in: Water Systems--downstream surface and groundwater quality; Land--the long-term behavior and stability of constructed landforms; Ecosystems--the long-term sustainability of constructed landforms; Waste--the long-term treatment and disposal of waste products; will allow the ACMRR to achieve these goals through specific research projects in these areas, developed with industry sponsors. This paper will discuss their progress to date, research projects underway, and plans for the future

  16. Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees. (United States)

    Boattini, A; Sarno, S; Pedrini, P; Medoro, C; Carta, M; Tucci, S; Ferri, G; Alù, M; Luiselli, D; Pettener, D


    Social and cultural factors had a critical role in determining the genetic structure of Europe. Therefore, socially stratified populations may help to focus on specific episodes of European demographic history. In this study, we use uniparental markers to analyse the genetic structure of Partecipanza in San Giovanni in Persiceto (Northern Italy), a peculiar institution whose origins date back to the Middle Ages and whose members form the patrilineal descent of a group of founder families. From a maternal point of view (mtDNA), Partecipanza is genetically homogeneous with the rest of the population. However, we observed a significant differentiation for Y-chromosomes. In addition, by comparing 17 Y-STR profiles with deep-rooted paternal pedigrees, we estimated a Y-STR mutation rate equal to 3.90 * 10(-3) mutations per STR per generation and an average generation duration time of 33.38 years. When we used these values for tentative dating, we estimated 1300-600 years ago for the origins of the Partecipanza. These results, together with a peculiar Y-chromosomal composition and historical evidence, suggest that Germanic populations (Lombards in particular) settled in the area during the Migration Period (400-800 AD, approximately) and may have had an important role in the foundation of this community.

  17. Whole-genome sequence, SNP chips and pedigree structure: building demographic profiles in domestic dog breeds to optimize genetic-trait mapping (United States)

    Dreger, Dayna L.; Rimbault, Maud; Davis, Brian W.; Bhatnagar, Adrienne; Parker, Heidi G.


    ABSTRACT In the decade following publication of the draft genome sequence of the domestic dog, extraordinary advances with application to several fields have been credited to the canine genetic system. Taking advantage of closed breeding populations and the subsequent selection for aesthetic and behavioral characteristics, researchers have leveraged the dog as an effective natural model for the study of complex traits, such as disease susceptibility, behavior and morphology, generating unique contributions to human health and biology. When designing genetic studies using purebred dogs, it is essential to consider the unique demography of each population, including estimation of effective population size and timing of population bottlenecks. The analytical design approach for genome-wide association studies (GWAS) and analysis of whole-genome sequence (WGS) experiments are inextricable from demographic data. We have performed a comprehensive study of genomic homozygosity, using high-depth WGS data for 90 individuals, and Illumina HD SNP data from 800 individuals representing 80 breeds. These data were coupled with extensive pedigree data analyses for 11 breeds that, together, allowed us to compute breed structure, demography, and molecular measures of genome diversity. Our comparative analyses characterize the extent, formation and implication of breed-specific diversity as it relates to population structure. These data demonstrate the relationship between breed-specific genome dynamics and population architecture, and provide important considerations influencing the technological and cohort design of association and other genomic studies. PMID:27874836

  18. Metabolic syndrome and related variables, insulin resistance, leptin levels, and PPAR-γ2 and leptin gene polymorphisms in a pedigree of subjects with bipolar disorder

    Directory of Open Access Journals (Sweden)

    Trino Baptista


    Full Text Available Objective:Evidence points to a high prevalence of metabolic dysfunction in bipolar disorder (BD, but few studies have evaluated the relatives of subjects with BD. We conducted a cross-sectional study in an extended family of patients with BD type I.Methods:The available relatives of the same family were interviewed (DSM-IV-R and assessed in fasting conditions for body mass index, constituent variables of the metabolic syndrome (MS, leptin levels, insulin resistance index, and single nucleotide polymorphisms (SNPs for the leptin receptor and promoter and PPAR-γ2 genes. The frequency of MS was compared with that recorded in the local general population.Results:Ninety-three relatives of three adults with BD were evaluated (30 aged 18 years. The frequency of MS was similar to that of the general population. Significantly higher frequencies of abnormal glucose, total and low density cholesterol (LDL-c levels (all p < 0.05, waist circumference (p = 0.057, and leptin and insulin resistance values (in adults only were observed in the family. Adults with the QQ genotype of the leptin receptor displayed higher LDL-c levels than carriers of the R allele.Conclusions:The associations among BD consanguinity, familial hypercholesterolemia, and leptin receptor SNPs reported herein should be replicated and extended in other pedigrees.

  19. Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review. (United States)

    Zhang, Qi-Jie; Xu, Liu-Qing; Wang, Chong; Hu, Wei; Wang, Ning; Chen, Wan-Jin


    Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism. Clinical tests showed a low serum ceruloplasmin level, high urinary copper excretion and Kayser-Fleischer (K-F) rings. She carried a compound heterozygous mutations in ATP7B gene (c.2828G>A and c.3884C>T). Her younger brother, as an asymptomatic patient, manifested with elevation of transaminases but without neurological and hepatic symptoms. They were diagnosed as WD finally. They were treated with sodium dimercaptosulphonate, supplemented with zinc gluconate, vitamin B6, vitamin C, as well as restriction of dietary copper. The urinary copper excretion and serum transaminase level decreased gradually. The abnormal signals in brainstem and basal ganglia were also remarkably decreased after 4-year of de-copper treatment. As to the patients with complicated clinical manifestations, the extrapyramidal symptom and basal ganglia signals should be concerned. The serum ceruloplasmin detection and ATP7B gene mutation screening are necessary.

  20. The Portrayal of Indigenous Health in Selected Australian Media

    Directory of Open Access Journals (Sweden)

    Melissa J. Stoneham


    Full Text Available It is acknowledged that health outcomes for Australian Indigenous peoples are lower than those of non-Indigenous Australians. Research suggests negative media in relation to Indigenous Australians perpetuates racist stereotypes among the wider population and impacts on the health of Indigenous Australians. This study examined the media portrayal of Indigenous Australian public health issues in selected media over a twelve month period and found that, overwhelmingly, the articles were negative in their portrayal of Indigenous health. A total of 74 percent of the coverage of Australian Indigenous related articles were negative, 15 percent were positive, and 11 percent were neutral. The most common negative subject descriptors related to alcohol, child abuse, petrol sniffing, violence, suicide, deaths in custody, and crime.



    Svetlana Vlady; Ekrem Tufan; Bahattin Hamarat


    This study investigates causality of weather and its impact on the The S&P/ASX All Australian 200 Index has been selected as a proxy for the Australian capital market. The index consists exclusively of Australian domiciled companies. Following previous research in behaviour finance in the area of environmental psychology, the data set covers temperature, quality temperature, wet bulb temperature, quality wet bulb temperature, humidity, pressure and vapour pressure variables. The data set is a...

  2. How Australian and Indonesian Universities Treat Plagiarism: a Comparative Study


    Cahyono, Bambang Yudi


    This article is a part of a larger study comparing various aspects of policies on plagiarism in two university contexts. It compares policies on plagiarism in universities in Australia and Indonesia. The results of this comparative study showed that Australian and Indonesian universities treat plagiarism differently. Australian universities treat plagiarism explicitly in their university policies. In Australian universities, plagiarism is defined clearly and forms of plagiarism are explained ...

  3. Australian blue-collar men's health and well-being: contextual issues for workplace health promotion interventions. (United States)

    Du Plessis, Karin; Cronin, David; Corney, Tim; Green, Emma


    In Australia, blue-collar workers are predominantly male and form a unique and large (approximately 30%) subset of the Australian workforce. They exhibit particular health-related issues and, in comparison to other groups, often a lack of health promoting behavior. This article briefly discusses the Australian context and some of the key health issues blue-collar men face, in particular as it relates to construction workers. It reviews the impact of gender and socioeconomic factors in designing workplace health promotion interventions. This article considers practice strategies for health promoters in a specific workplace setting: it looks at meta-factors and industry-based contextual factors, including barriers to implementation and participation, while addressing common misconceptions about Australian blue-collar workers.

  4. The decline in Australian young male suicide. (United States)

    Morrell, Stephen; Page, Andrew N; Taylor, Richard J


    Since the late 1990s there has been a sharp downward trend in Australian young male suicide. It is possible that a major government youth suicide prevention initiative, the National Youth Suicide Prevention Strategy (NYSPS), implemented during 1995-1999 may have influenced the decline. In this article, we examine time trends in age- and means-specific male and female Australian suicide rates in relation to unemployment rates and the NYSPS. Based on Australian suicide data over the period 1966-2003, we assess secular changes in the 20-24 year male suicide to total (crude) male suicide rate ratio in relation to the NYSPS, using interrupted time series analysis (ARIMA), since this was previously found to be significantly associated with the 20-24 year male unemployment to total employment ratio. Results show that a dramatic reduction in Australian young male (aged 20-34 years) suicide has occurred since 1997-1998, declining from approximately 40 per 100,000 in 1997-1998 to approximately 20 per 100,000 in 2003. Most of the decline is due to a decrease in suicide by hanging and to a lesser extent from motor vehicle carbon monoxide and other gases. Further, the previously established strong secular association (lasting over 3 decades from 1966) between the rate ratio of 20-24 year male suicide to total (crude) male suicide, and the rate ratio of 20-24 year male unemployment to total unemployment, appears to have been disrupted. ARIMA modelling of the suicide ratio against the initiative indicates a highly significant statistical association between the NYSPS and the suicide ratio reduction but not between the NYSPS and the unemployment indicator trend, suggesting a break in the link between young male suicide and unemployment. The recent sudden turnaround in Australian young male suicide trends and its extent appears to preclude explanations centring on slow-moving social indices traditionally associated with suicide, or on possible cohort effects. This sudden decrease

  5. Interchange rotation factors and player characteristics influence physical and technical performance in professional Australian Rules football. (United States)

    Dillon, Patrick A; Kempton, Thomas; Ryan, Samuel; Hocking, Joel; Coutts, Aaron J


    To examine the effects of match-related and individual player characteristics on activity profile and technical performance during rotations in professional Australian football. Longitudinal observational study. Global positioning system data and player rating scores were collected from 33 professional Australian football players during 15 Australian football League matches. Player rating scores were time aligned with their relative total and high-speed running (HSR) distance (>20kmh -1 ) for each on ground rotation. Individual players' maximal aerobic running speed (MAS) was determined from a two-kilometre trial. A multilevel linear mixed model was used to examine the influence of rotations on physical activity profiles and skill execution during match play. Rotation duration and accumulated distance resulted in a trivial-to-moderate reduction in relative total and HSR distances as well as relative rating points. The number of disposals in a rotation had a small positive effect on relative total and HSR distances and a large positive effect on relative rating points. MAS was associated with a moderate-to-large increase in relative total distance, but had a large negative effect on relative rating points. Previous rotation time, stoppages and the number of rotations in the quarter had a trivial-to-small negative effect on relative total and HSR distances. A greater speed (mmin -1 ) was associated with a trivial increase in rating points during a rotation, while there was a trivial decrease in relative total distance as rating points increased. The complex relationship between factors that influence activity profile and technical performance during rotations in Australian football needs to be considered when interpreting match performance. Copyright © 2017 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

  6. Sporting Chance: Indigenous Participation in Australian Sport History

    Directory of Open Access Journals (Sweden)

    Sean Gorman


    Full Text Available For many non-Indigenous Australians the only time they have any engagement with Indigenous peoples, history or issues is through watching sport on television or being at a football match at the MCG. This general myopia and indifference by settler Australians with Indigenous Australians manifests itself in many ways but perhaps most obscenely in the simple fact that Indigenous Australians die nearly 20 years younger than the rest of Australias citizens. Many non-Indigenous Australians do not know this. Sport in many ways has offered Indigenous Australians a platform from which to begin the slow, hard process for social justice and equity to be actualised. This paper will discuss the participation of Indigenous Australians in sport and show how sport has enabled Indigenous Australians to create a space so that they can speak out against the injustices they have experienced and to further improve on relations going into the future. The central contention is that through sport all Australians can begin a process of engaging with Indigenous history as a means to improve race relations between the two groups.

  7. Genomic analyses of tropical beef cattle fertility based on genotyping pools of Brahman cows with unknown pedigree. (United States)

    Reverter, A; Porto-Neto, L R; Fortes, M R S; McCulloch, R; Lyons, R E; Moore, S; Nicol, D; Henshall, J; Lehnert, S A


    We introduce an innovative approach to lowering the overall cost of obtaining genomic EBV (GEBV) and encourage their use in commercial extensive herds of Brahman beef cattle. In our approach, the DNA genotyping of cow herds from 2 independent properties was performed using a high-density bovine SNP chip on DNA from pooled blood samples, grouped according to the result of a pregnancy test following their first and second joining opportunities. For the DNA pooling strategy, 15 to 28 blood samples from the same phenotype and contemporary group were allocated to pools. Across the 2 properties, a total of 183 pools were created representing 4,164 cows. In addition, blood samples from 309 bulls from the same properties were also taken. After genotyping and quality control, 74,584 remaining SNP were used for analyses. Pools and individual DNA samples were related by means of a "hybrid" genomic relationship matrix. The pooled genotyping analysis of 2 large and independent commercial populations of tropical beef cattle was able to recover significant and plausible associations between SNP and pregnancy test outcome. We discuss 24 SNP with significant association ( < 1.0 × 10) and mapped within 40 kb of an annotated gene. We have established a method to estimate the GEBV in young herd bulls for a trait that is currently unable to be predicted at all. In summary, our novel approach allowed us to conduct genomic analyses of fertility in 2 large commercial Brahman herds managed under extensive pastoral conditions.

  8. A scoping review of Australian allied health research in ehealth. (United States)

    Iacono, Teresa; Stagg, Kellie; Pearce, Natalie; Hulme Chambers, Alana


    Uptake of e-health, the use of information communication technologies (ICT) for health service delivery, in allied health appears to be lagging behind other health care areas, despite offering the potential to address problems with service access by rural and remote Australians. The aim of the study was to conduct a scoping review of studies into the application of or attitudes towards ehealth amongst allied health professionals conducted in Australia. Studies meeting inclusion criteria published from January 2004 to June 2015 were reviewed. Professions included were audiology, dietetics, exercise physiology, occupational therapy, physiotherapy, podiatry, social work, and speech pathology. Terms for these professions and forms of ehealth were combined in databases of CINAHL (EBSCO), Cochrane Library, PsycINFO (1806 - Ovid), MEDLINE (Ovid) and AMED (Ovid). Forty-four studies meeting inclusion criteria were summarised. They were either trials of aspects of ehealth service delivery, or clinician and/or client use of and attitudes towards ehealth. Trials of ehealth were largely from two research groups located at the Universities of Sydney and Queensland; most involved speech pathology and physiotherapy. Assessments through ehealth and intervention outcomes through ehealth were comparable with face-to-face delivery. Clinicians used ICT mostly for managing their work and for professional development, but were reticent about its use in service delivery, which contrasted with the more positive attitudes and experiences of clients. The potential of ehealth to address allied health needs of Australians living in rural and remote Australia appears unrealised. Clinicians may need to embrace ehealth as a means to radicalise practice, rather than replicate existing practices through a different mode of delivery.

  9. Challenges and Success Factors of ERP Systems in Australian SMEs

    Directory of Open Access Journals (Sweden)

    Sitalakshmi Venkatraman


    Full Text Available Today, great potential is envisaged for ERP systems in small and medium-sized enterprises (SMEs, and software vendors have been repackaging their ERP systems for SMEs with a recent focus on cloud-based systems. While cloud ERP offers the best solution for SMEs without the overheads of the huge investment and management costs that are associated with traditional ERP systems, the SME sector faces many challenges in their adoption. Traditional ERP studies have predominantly focused on large organizations, and gaps in the literature indicate that both vendor and consumer perspectives require more understanding with new technology offerings for SMEs. This paper describes some of the common challenges, such as cost effectiveness, alignment between software and business processes, customized governance and training, which form the major SME constraints for ERP system adoption. Due to the dynamic nature of SME businesses, best practice guidelines for an SME’s ERP implementation could be arrived at through closer investigation of its business requirements in order to avoid misfits. This forms the main objective of the study. We identify key success factors of ERP implementation in an Australian SME as a case study. These target success factors are then compared to the actual outcomes achieved. Factors such as business process alignment with the ERP system, meeting customer and stakeholder needs and reducing recurring and maintenance costs were key to the success of ERP implementation for the Australian SME. In particular, the IT and business strategy alignment with a customer focus and flexible reporting features of ERP systems has resulted in business agility.

  10. Australian climate change impacts, adaptation and vulnerability

    International Nuclear Information System (INIS)

    Hennessy, K.; Fitzharris, B.


    Full text: Full text: The IPCC Fourth Assessment Report on impacts, adaptation and vulnerability made the following conclusions about Australia (Hennessy et al., 2007): Regional climate change has occurred. Since 1950, there has been 0.7 0 C warming, with more heat waves, fewer frosts, more rain in north-west Australia, less rain in southern and eastern Australia, an increase in the intensity of Australian droughts and a rise in sea level of about 70 mm. Australia is already experiencing impacts from recent climate change. These are now evident in increasing stresses on water supply and agriculture, changed natural ecosystems, and reduced seasonal snow cover. Some adaptation has already occurred in response to observed climate change. Examples come from sectors such as water, natural ecosystems, agriculture, horticulture and coasts. However, ongoing vulnerability to extreme events is demonstrated by substantial economic losses caused by droughts, floods, fire, tropical cyclones and hail. The climate of the 21st century is virtually certain to be warmer, with changes in extreme events. Heat waves and fires are virtually certain to increase in intensity and frequency. Floods, landslides, droughts and storm surges are very likely to become more frequent and intense, and snow and frost are very likely to become less frequent. Large areas of mainland Australia are likely to have less soil moisture. Potential impacts of climate change are likely to be substantial without further adaptation; As a result of reduced precipitation and increased evaporation, water security problems are projected to intensify by 2030 in southern and eastern Australia; Ongoing coastal development and population growth, in areas such as Cairns and south-east Queensland, are projected to exacerbate risks from sea level rise and increases in the severity and frequency of storms and coastal flooding by 2050. Significant loss of biodiversity is projected to occur by 2020 in some ecologically rich

  11. When does nursing burnout begin? An investigation of the fatigue experience of Australian nursing students. (United States)

    Rella, Samantha; Winwood, Peter C; Lushington, Kurt


    Investigation of chronic maladaptive fatigue evolution among a large group of Australian Bachelor of Nursing (BN) degree students. The training of Australian nurses has changed from a salaried, 'apprenticeship' structure (usually including accommodation) to a University-based (fee paying) degree. Relatively little is known about how these changes have impacted on the strain and fatigue experience of nursing students. A large group of Australian nursing students across 3 years of a BN course (n = 431) participated in an internet-based cross-sectional design study. Levels of maladaptive fatigue, and poor recovery, increased across the course. By its completion, up to 20% of graduates were reporting signs of serious maladaptive fatigue/stress. Contemporary nurse training places many students under significant psycho-social stress. Need to work for personal support as well as study and absence of adequate training in managing these strains appears to underpin this experience. Nurse Managers need to be alert to the fact that new Graduate Nurse Probationer (GNP) year (or its local equivalent) nurses may already be suffering from significant stress/fatigue. To prevent this progressing to more severe states and potential premature quitting the profession, provision of adequate mentoring and guidance in effective stress management may be essential.

  12. Prevalence and characteristics of overweight and obesity in indigenous Australian children: A systematic review. (United States)

    Dyer, Suzanne Marie; Gomersall, Judith Streak; Smithers, Lisa Gaye; Davy, Carol; Coleman, Dylan T; Street, Jackie Mary


    Evidence-based profiling of obesity and overweight in Indigenous Australian children has been poor. This study systematically reviewed evidence of the prevalence and patterns of obesity/overweight, with respect to gender, age, remoteness, and birth weight, in Indigenous Australian children, 0-18 years (PROSPERO CRD42014007626). Study quality and risk of bias were assessed. Twenty-five publications (21 studies) met inclusion criteria, with large variations in prevalence for obesity or overweight (11 to 54%) reported. A high degree of heterogeneity in study design was observed, few studies (6/21) were representative of the target population, and few appropriately recruited Indigenous children (8/21). Variability in study design, conduct, and small sample sizes mean that it is not possible to derive a single estimate for prevalence although two high-quality studies indicate at least one in four Indigenous Australian children are overweight or obese. Four of six studies reporting on gender, found overweight/obesity higher in girls and eight studies reporting on overweight/obesity by age suggest prevalence increases with age with one high quality large national study reporting total overweight/obesity as 22.4% of children aged 2-4 years, 27.5% of those aged 5-9, 38.5% aged 10-14, and 36.3% aged 15-17. Three of four studies, reporting obesity/overweight by region, found lower rates for children living in more remote areas than urban areas.

  13. Writing the history of Australian art: its past, present and possible future

    Directory of Open Access Journals (Sweden)

    Terry Smith


    Full Text Available In the years around 1980 the history of Australian art was reconceived in a bewildering variety of ways. A historiographical revolution was underway. This was largely the result of plethora of new approaches to art history that emerged worldwide during the 1970s: contextual, feminist, populist, Marxist. Aboriginal art awaited detailed art historical consideration. This article places these changes in the context of previous efforts to chart the history of Australian art, which the author argues occurred in six phases: colonial, bourgeois nationalist, realist versus aestheticist, modernist, culturalist, and the approaches noted above. Most of these approaches developed in Australia and were applied by local authors. In recent decades, however, ‘external’ approaches are more evident, and are deeply preoccupied with the question of defining modernism in Australia, which they largely fail to do. The author surveys a number of such attempts, taking this question as the paradoxical key to unraveling the overall structure of the history of Australian art.

  14. Large deviations

    CERN Document Server

    Varadhan, S R S


    The theory of large deviations deals with rates at which probabilities of certain events decay as a natural parameter in the problem varies. This book, which is based on a graduate course on large deviations at the Courant Institute, focuses on three concrete sets of examples: (i) diffusions with small noise and the exit problem, (ii) large time behavior of Markov processes and their connection to the Feynman-Kac formula and the related large deviation behavior of the number of distinct sites visited by a random walk, and (iii) interacting particle systems, their scaling limits, and large deviations from their expected limits. For the most part the examples are worked out in detail, and in the process the subject of large deviations is developed. The book will give the reader a flavor of how large deviation theory can help in problems that are not posed directly in terms of large deviations. The reader is assumed to have some familiarity with probability, Markov processes, and interacting particle systems.

  15. A dataset for examining trends in publication of new Australian insects

    Directory of Open Access Journals (Sweden)

    Robert Mesibov


    Full Text Available Australian Faunal Directory data were used to create a new, publicly available dataset, nai50, which lists 18318 species and subspecies names for Australian insects described in the period 1961–2010, together with associated publishing data. The number of taxonomic publications introducing the new names varied little around a long-term average of 70 per year, with ca 420 new names published per year during the 30-year period 1981–2010. Within this stable pattern there were steady increases in multi-authored and 'Smith in Jones and Smith' names, and a decline in publication of names in entomology journals and books. For taxonomic works published in Australia, a publications peak around 1990 reflected increases in museum, scientific society and government agency publishing, but a subsequent decline is largely explained by a steep drop in the number of papers on insect taxonomy published by Australia's national science agency, CSIRO.

  16. ‘Let the Punishment Match the Offence’: Determining Sentences for Australian Terrorists

    Directory of Open Access Journals (Sweden)

    Nicola McGarrity


    Full Text Available To date, 38 men have been charged with terrorism offences in Australia. Twenty-six have been convicted. The article commences with an overview of the factual circumstances leading to these convictions. This provides important background for the following discussion of a largely unexplored issue in Australian anti-terrorism law and policy, namely, the difficulties faced by the Australian courts in adapting traditional sentencing principles to the (for the most part, preparatory terrorism offences enacted by the Commonwealth Parliament after the 9/11 terrorist attacks. Of particular interest are how the courts determine the objective seriousness of these offences and the respective weight placed upon deterrence (both specific and general and the rehabilitation of convicted terrorists.

  17. The Arts and Australian Education: Realising Potential. Australian Education Review No. 58 (United States)

    Ewing, Robyn


    Australian Education Review (AER) 58 surveys the international and national research on the role and effect of arts-rich programming in schools and in the broader community, and examines the policies and practices that inhibit or support these initiatives. It puts the case that embedding the Arts in learning would be a powerful catalyst for…

  18. Australian Apprentice & Trainee Statistics: Electrical and Electronics Trades, 1995 to 1999. Australian Vocational Education & Training. (United States)

    National Centre for Vocational Education Research, Leabrook (Australia).

    Statistics regarding Australians participating in apprenticeships and traineeships in the electrical and electronics trades in 1995-1999 were reviewed to provide an indication of where skill shortages may be occurring or will likely occur in relation to the following occupations: electrical engineering associate professional; electronics…

  19. Australian Apprentice & Trainee Statistics: Automotive Repairs and Service Trades, 1995 to 1999. Australian Vocational Education & Training. (United States)

    National Centre for Vocational Education Research, Leabrook (Australia).

    Statistics regarding Australians participating in apprenticeships and traineeships in the automotive repairs and service trades in 1995-1999 were reviewed to provide an indication of where skill shortages may be occurring or will likely occur in relation to the following occupations: motor mechanic, automotive electrician, and panel beater. The…

  20. The Australian-Ness of Curriculum Jigsaws: Where Does Environmental Education Fit? (United States)

    Gough, Annette


    This paper reviews Australian Government actions related to environmental education, particularly in the past decade, and examines the actions forthcoming from two national action plans (Environment Australia, 2000 and DEWHA, 2009), the implementation strategy for the Decade of ESD (DEWHA, 2006) and developments related to the Australian…

  1. Communication disorders after stroke in Aboriginal Australians. (United States)

    Armstrong, Elizabeth; Hersh, Deborah; Hayward, Colleen; Fraser, Joan


    Limited research exists on acquired communication disorders (ACD) in Aboriginal Australians despite their high rates of stroke. Their uptake of rehabilitation services is low, and little information is available on functional consequences for this population. This pilot study explored consequences of ACD for Aboriginal Australians after stroke, including their experiences of services received. Semi-structured interviews were collected with 13 Aboriginal people with ACD, and family members, in Perth. Ages ranged from 30 to 78 years and time post stroke from 0.5 to 29 years. A qualitative, thematic analysis of interview transcripts was undertaken. The key themes which emerged were "getting on with life", coping with change, independence/interdependence, the importance of communication for maintaining family and community connection, role and identity issues and viewing the stroke consequences within the broader context of co-morbidities. While similar life disruptions were found to those previously reported in the general stroke population, this study highlighted differences, which reflect the particular context of ACD for Aboriginal people and which need to be considered when planning future services. While implications are limited due to small numbers, the findings emphasise the importance of a holistic approach, and integration of communication treatments into community-led social activities. Implications for Rehabilitation Aboriginal Australians frequently experience a range of concurrent and complex co-morbidities and demanding social or family circumstances at the same time as coping with communication disorders post-stroke. A holistic approach to post stroke rehabilitation may be appropriate with services that accommodate communication disorders, delivered in collaboration with Aboriginal organisations, emphasising positive attitudes and reintegration into community as fully as possible. Communication and yarning are important for maintaining family and

  2. Factors associated with dementia in Aboriginal Australians. (United States)

    Smith, Kate; Flicker, Leon; Dwyer, Anna; Atkinson, David; Almeida, Osvaldo P; Lautenschlager, Nicola T; LoGiudice, Dina


    Although the prevalence of dementia in remote living Aboriginal Australians is one of the highest in the world, the factors associated with dementia in this population are yet to be examined. This study was designed to determine the demographic, lifestyle and clinical factors associated with dementia in Aboriginal Australians living in the Kimberley region of Western Australia. A total of 363 Aboriginal Australians aged over 45 years from the Kimberley region were selected by semi-purposeful sampling. The factors analysed for association with dementia were age, sex, education, smoking, chewing tobacco, alcohol, head injury, heart disease, hypertension, diabetes, previous stroke, epilepsy, falls, mobility, incontinence, urinary problems, vision and hearing. This exposure data was collected from participants' and informants' reports using the Kimberley Indigenous Cognitive Assessment and specialist review, and medical records. Factors associated with dementia included older age, male gender (OR 3.1, 95%CI 1.4, 6.8) and no formal education (OR 2.7, 95%CI 1.1, 6.7) and after adjusting for age, sex and education, dementia was associated with current smoking (OR 4.5, 95%CI 1.1, 18.6), previous stroke (OR 17.9, 95%CI 5.9, 49.7), epilepsy (OR 33.5, 95%CI 4.8, 232.3), head injury (OR 4.0, 95%CI 1.7, 9.4), and poor mobility, incontinence and falls. Interventions aimed at better management or prevention of the modifiable factors identified could reduce dementia risk in Aboriginal populations.

  3. Influencing Safety in Australian Agriculture and Fisheries. (United States)

    McBain-Rigg, Kristin E; Franklin, Richard C; King, Jemma C; Lower, Tony


    Improving the health and safety of those working in Australian agriculture and fishery industries is a recognized priority area for preventative activities. With Australian agricultural industries being among the nation's most dangerous workplaces, there is a need for action. While there are currently known solutions, their implementation is limited. Influential agents, i.e., people who can influence others, are important for helping engender action to enact solutions into practice. This study examines agents that influence safety behavior either negatively (barriers) or positively (facilitators), in the Australian agriculture and fishery industries. Focus groups were conducted with producers and industry representatives. Thematic analysis identified barriers and facilitators to improve health and safety. These were assessed against the Socioecological Model, which considers the various, and often intersecting, human (intrapersonal, i.e. values and attitudes, peers, familial, and cultural) factors influencing safety behavior. Seven categories of human influences were identified: self, peers, family, intergenerational change, industry agents, government agents, and other. Peers (including direct managers) and family were seen to be direct influencers. Individuals signal to others that safety is valued and important. This is reinforced by experience, skill, attitudes, and behavior. Safety practice knowledge acquisition occurred via the family unit, specific training, industry, or knowledge transfer between industries. Government influence predominately focused on legislation and while the source of this influence is distant, it does influence behavior. There is a need to support comprehensive programs. These should include strengthening relationships via peer-to-peer networking, sharing information about safety initiatives, appropriate legislation, and enhancing leadership of all influencers with regard to safety.

  4. Hot rock energy projects : Australian context

    Energy Technology Data Exchange (ETDEWEB)

    Goldstein, B.A.; Malavazos, M. [Society of Petroleum Engineers, Richardson, TX (United States); Hill, A.J.; Coda, J. [Primary Industries and Resources South Australia, Adelaide (Australia)]|[Australian Geothermal Energy Group, Adelaide (Australia); Budd, A.R.; Holgate, F.L. [Australian Geothermal Energy Group, Adelaide (Australia)]|[Geoscience Australia, Adelaide (Australia)


    The Australia Geothermal Energy Group is an alliance of companies, government agencies and research organizations with an interest in promoting geothermal energy use. Hot rocks (HR) geothermal energy is a valued addition to the portfolio of safe, secure and competitive energy supplies because it offers the potential of inexhaustible geothermal heat energy with zero emissions. Australia's vast HR resources have attracted global interest and government support for HR projects, which call upon integrated expertise from the petroleum minerals and power industries. Funding from the Australian government is aimed at reducing critical, sector-wide uncertainties and equates to nearly 25 per cent of the cost of the private sector's field efforts to date. A national HR resource assessment and a road-map for the commercialization of Australian HR plays will be published in 2008 to help in the decision making process by portfolio managers. The challenges and prospects for HR projects in Australia were presented. It has been estimated that converting only 1 per cent of Australia's crustal energy from depths of 5 km and 150 degrees C to electricity would supply 26,000 years of Australia's 2005 primary power use. The factors that distinguish Australian HR resources include abundant radioactive granites and areas of recent volcanic activity; and, Australia is converging with Indonesia on a plate scale resulting in common, naturally occurring subhorizontally fractured basement rocks that are susceptible to hydraulic fracture stimulation. Most projects are focused on HR to develop enhanced or engineered geothermal systems (EGS) to fuel binary power plants. Approximately 80 percent of these projects are located in South Australia. 14 refs., 3 tabs., 3 figs.

  5. The Australian Natural Disaster Resilience Index (United States)

    Thoms, Martin


    The Australian Natural Disaster Resilience Index Martin Thoms, Melissa Parsons, Phil Morley Bushfire and Natural Hazards Cooperative Research Centre, Geography and Planning, University of New England, Armidale NSW 2351, Australia. Natural hazard management policy directions in Australia - and indeed internationally - are increasingly being aligned to ideas of resilience. Resilience to natural hazards is the ability of individuals and communities to cope with disturbance and adversity and to maintain adaptive behaviour. Operationalizing the measurement and assessment of disaster resilience is often undertaken using a composite index, but this exercise is yet to be undertaken in Australia. The Australian Natural Disaster Resilience Index is a top-down, national scale assessment of the resilience of communities to natural hazards. Resilience is assessed based on two sets of capacities: coping and adaptive capacities. Coping capacity relates to the factors influencing the ability of a community to prepare for, absorb and recover from a natural hazard event. Adaptive capacity relates to the arrangements and processes that enable adjustment through learning, adaptation and transformation. Indicators are derived under themes of social character, economic capital, infrastructure and planning, emergency services, community capital, information and engagement and governance/leadership/policy, using existing data sets (e.g. census data) or evaluation of policy and procedure (e.g. disaster management planning). A composite index of disaster resilience is then computed for each spatial division, giving national scale coverage. The results of the Australian Natural Disaster Resilience Index will be reported in a State of Disaster Resilience report, due in 2018. The index is co-designed with emergency service agencies, and will support policy development, planning, community engagement and emergency management.

  6. Persistence Characteristics of Australian Rainfall Anomalies (United States)

    Simmonds, Ian; Hope, Pandora


    Using 79 years (1913-1991) of Australian monthly precipitation data we examined the nature of the persistence of rainfall anomalies. Analyses were performed for four climate regions covering the country, as well as for the entire Australian continent. We show that rainfall over these regions has high temporal variability and that annual rainfall amounts over all five sectors vary in phase and are, with the exception of the north-west region, significantly correlated with the Southern Oscillation Index (SOI). These relationships were particularly strong during the spring season.It is demonstrated that Australian rainfall exhibits statistically significant persistence on monthly, seasonal, and (to a limited extent) annual time-scales, up to lags of 3 months and one season and 1 year. The persistence showed strong seasonal dependence, with each of the five regions showing memory out to 4 or 5 months from winter and spring. Many aspects of climate in the Australasian region are known to have undergone considerable changes about 1950. We show this to be true for persistence also; its characteristics identified for the entire record were present during the 1951--1980 period, but virtually disappeared in the previous 30-year period.Much of the seasonal distribution of rainfall persistence on monthly time-scales, particularly in the east, is due to the influence of the SOI. However, most of the persistence identified in winter and spring in the north-west is independent of the ENSO phenomenon.Rainfall anomalies following extreme dry and wet months, seasons and years (lowest and highest two deciles) persisted more than would be expected by chance. For monthly extreme events this was more marked in the winter semester for the wet events, except in the south-east region. In general, less persistence was found for the extreme seasons. Although the persistence of dry years was less than would have been expected by chance, the wet years appear to display persistence.

  7. Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. (United States)

    Zou, Xuan; Dong, Fangtian; Zhang, Shuying; Tian, Rong; Sui, Ruifang


    The familial transthyretin (TTR) amyloidosis (FTA) demonstrates variable penetrance of clinical features associated with mutations in the plasma thyroid hormone-binding protein TTR gene. The purpose of this study was to assess the ocular features, to analyze vitreous and serum vascular endothelial growth factor (VEGF) levels, and to identify the genetic defect in a Chinese family with TTR FTA. The pedigree of interest was a three-generation family with eleven members. The primary ocular signs were vitreous opacities, beginning from the third or fourth decade, accompanied by retinal vasculitis, hemorrhages, and widespread pinpoint deposits in the peripheral retina. Two patients underwent vitrectomy with marked improvement of visual acuity postoperatively. Vitreous and serum samples for VEGF were analyzed with an enzyme-linked immunosorbent assay (ELISA). Forty-eight healthy adult volunteers were enrolled as a control group for the analysis of serum VEGF. Eight subjects who underwent vitrectomy for a macular epiretinal membrane or macular hole were enrolled as control for the analysis of vitreous VEGF. Both serum and vitreous VEGF levels of patients were raised compared to that of controls. Venous blood was collected from family members and the genomic DNA was extracted. All exons and exon-intron boundaries of the TTR gene were sequenced. A previously-described pathogenic transversion in exon 2 (c.G106C, p.Ala36Pro) was identified. Within this family eight individuals were confirmed as affected. In conclusion, a Chinese family with TTR Ala36Pro associated FTA is characterized by early ocular involvement. Widespread pinpoint lesions indicate RPE lesions caused by TTR deposition. FTA is associated with increased VEGF levels, both in serum and vitreous. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. Genomic Prediction with Pedigree and Genotype × Environment Interaction in Spring Wheat Grown in South and West Asia, North Africa, and Mexico

    Directory of Open Access Journals (Sweden)

    Sivakumar Sukumaran


    Full Text Available Developing genomic selection (GS models is an important step in applying GS to accelerate the rate of genetic gain in grain yield in plant breeding. In this study, seven genomic prediction models under two cross-validation (CV scenarios were tested on 287 advanced elite spring wheat lines phenotyped for grain yield (GY, thousand-grain weight (GW, grain number (GN, and thermal time for flowering (TTF in 18 international environments (year-location combinations in major wheat-producing countries in 2010 and 2011. Prediction models with genomic and pedigree information included main effects and interaction with environments. Two random CV schemes were applied to predict a subset of lines that were not observed in any of the 18 environments (CV1, and a subset of lines that were not observed in a set of the environments, but were observed in other environments (CV2. Genomic prediction models, including genotype × environment (G×E interaction, had the highest average prediction ability under the CV1 scenario for GY (0.31, GN (0.32, GW (0.45, and TTF (0.27. For CV2, the average prediction ability of the model including the interaction terms was generally high for GY (0.38, GN (0.43, GW (0.63, and TTF (0.53. Wheat lines in site-year combinations in Mexico and India had relatively high prediction ability for GY and GW. Results indicated that prediction ability of lines not observed in certain environments could be relatively high for genomic selection when predicting G×E interaction in multi-environment trials.

  9. Innovation in Australian technology 1979-1980

    Energy Technology Data Exchange (ETDEWEB)


    Innovations arising from Australian research and development are reported. Two categories of submission are defined: those which are in production or use and those which have reached prototype design or pilot plant stage and appear to be of value. Innovations in the field of nuclear science are: a radon analyser, uranium tails management, technetium-99m generator, enrichment of uranium by gas ultracentrifuge, programmable radiometric assay monitor, a borehole core analyser, intrinsic germanium detector for uranium borehole logging, underground operations at a uranium mine, neutron moisture meter and apparatus for the determination of deuterium in water at natural levels. Names to whom requests for further information should be addressed are included.

  10. Representative Democracy in Australian Local Government

    Directory of Open Access Journals (Sweden)

    Colin Hearfield


    Full Text Available In an assessment of representative democracy in Australian local government, this paper considers long-run changes in forms of political representation, methods of vote counting, franchise arrangements, numbers of local government bodies and elected representatives, as well as the thorny question of constitutional recognition. This discussion is set against the background of ongoing tensions between the drive for economic efficiency and the maintenance of political legitimacy, along with more deep-seated divisions emerging from the legal relationship between local and state governments and the resultant problems inherent in local government autonomy versus state intervention.

  11. Health of Australian atomic test personnel

    International Nuclear Information System (INIS)

    Donovan, J.


    This paper briefly summarises the results of a survey of the health of Australian personnel who took part in the U.K. atomic weapons tests between 1952 and 1957. The study identified indications of radiation exposure among participants and examined their health in relation to the answers they gave. For example, the study compared the health of those participants who said they cleaned up radioactive areas after tests with the health of those who said they had not. There was no excess of disease or death for any disease group studied in those members of the workforce who had film badge evidence of exposure to radiation

  12. The State of the Australian Middle Class

    Directory of Open Access Journals (Sweden)

    Clive Hamilton


    Full Text Available There is a widespread view that the middle class in Australia is doing it tough, that they arefinding it increasingly difficult to maintain a decent standard of living and are suffering frommortgage stress. Indeed, some media reports have announced the end of the middle classdream.This paper tests a number of these popular views against the statistical data. It asks whetherthe typical Australian family can be said to be struggling? Are mortgages creating severeproblems for middle-class families? Is the middle class shrinking? Are families copingfinancially only because wives are going out to work?

  13. Dipole vortices in the Great Australian Bight

    DEFF Research Database (Denmark)

    Cresswell, George R.; Lund-Hansen, Lars C.; Nielsen, Morten Holtegaard


    Shipboard measurements from late 2006 made by the Danish Galathea 3 Expedition and satellite sea surface temperature images revealed a chain of cool and warm mushroom' dipole vortices that mixed warm, salty, oxygen-poor waters on and near the continental shelf of the Great Australian Bight (GAB...... denser than the cooler offshore waters. The field of dipoles evolved and distorted, but appeared to drift westwards at 5km day-1 over two weeks, and one new mushroom carried GAB water southwards at 7km day(-1). Other features encountered between Cape Leeuwin and Tasmania included the Leeuwin Current...

  14. Markets, Distance Education, and Australian Higher Education

    Directory of Open Access Journals (Sweden)

    Ted Nunan


    Full Text Available The paper argues that the Australian university system is unstable. There will be significant change as government implements its reform agenda and even more radical change if it moves to new deregulation. The role of distance education in university education needs to be analyzed against this ‘market’ agenda of government in terms of characteristics of markets and market behavior. After a scan of the current role, the paper looks at two scenarios (regulated and deregulated for distance education in university teaching and learning in Australia.

  15. Aboriginal oral traditions of Australian impact craters (United States)

    Hamacher, Duane W.; Goldsmith, John


    In this paper we explore Aboriginal oral traditions that relate to Australian meteorite craters. Using the literature, first-hand ethnographic records and field trip data, we identify oral traditions and artworks associated with four impact sites: Gosses Bluff, Henbury, Liverpool and Wolfe Creek. Oral traditions describe impact origins for Gosses Bluff, Henbury and Wolfe Creek Craters, and non-impact origins for Liverpool Crater, with Henbury and Wolfe Creek stories having both impact and non-impact origins. Three impact sites that are believed to have been formed during human habitation of Australia -- Dalgaranga, Veevers, and Boxhole -- do not have associated oral traditions that are reported in the literature.

  16. Teaching evolution in the Australian classroom (United States)

    Vozzo, Les

    A summary of the key issues of controversy encountered by science teachers in Australian classrooms. Evolution, cloning and gene manipulation, fertility control, artificial intelligence, irradiation of food, the use of nuclear energy, radiation from powerlines are some of the topics discussed and debated in classrooms. What are some of the difficulties encountered by teachers when students ask questions that raise moral dilemmas and challenges entrenched beliefs and views of the world. What are some of the teaching strategies used that deal with these difficulties.

  17. Fires in the Australian Capital Territory (United States)


    The height and extent of billowing smoke plumes from bushfires near Canberra, the Australian capital, are illustrated by these views from the Multi-angle Imaging SpectroRadiometer (MISR). The images were acquired on January 18, 2003. Never before had fires of this magnitude come so close to Australia's capital. Four people lost their lives and over 500 homes were destroyed, mostly in the southwestern suburbs. Australia's famous Mount Stromlo Observatory, located immediately west of the city, was also incinerated by the fires.The top panel portrays a natural-color view from MISR's nadir camera, in which the eastern portion of the Australian Capital Territory is located south of a pale, ephemeral lake in the upper left-hand corner (Lake George). Several smoke plumes originate within the eastern part of the Australian Capital Territory, while the major plumes originate to the west of the image area. The Australian Capital Territory and much of New South Wales are completely obscured by the smoke, which is driven by fierce westerly winds and extends eastward to the coast and over the Pacific Ocean.The lower panel provides a stereoscopically retrieved height field of the clouds and smoke plumes. The greenish areas indicate where smoke plumes extend several kilometers above a bank of patchy stratus clouds below. A few high clouds appear near the bottom of the image. Wind retrievals were excluded from this image in order to generate a smooth and continuous field. Although relative height variations are well-represented here, the inclusion of wind retrievals for this scene reduces the actual cloud height results by 1 to 2 kilometers. Areas where heights could not be retrieved are shown as dark gray.The Multi-angle Imaging SpectroRadiometer observes the daylit Earth continuouslyand every 9 days views the entire globe between 82 degrees north and 82 degrees south latitude. This data product was generated from a portion of the imagery acquired during Terra orbit 16421. The

  18. Disability: a voice in Australian bioethics? (United States)

    Newell, Christopher


    The rise of research and advocacy over the years to establish a disability voice in Australia with regard to bioethical issues is explored. This includes an analysis of some of the political processes and engagement in mainstream bioethical debate. An understanding of the politics of rejected knowledge is vital in understanding the muted disability voices in Australian bioethics and public policy. It is also suggested that the voices of those who are marginalised or oppressed in society, such as people with disability, have particular contribution to make in fostering critical bioethics.

  19. Building the Clinical Bridge: An Australian Success

    Directory of Open Access Journals (Sweden)

    Marianne Wallis


    Full Text Available Nursing effectiveness science includes primary, secondary, and translational, clinically focused research activities which aim to improve patient or client outcomes. It is imperative, for the successful conduct of a program of nursing effectiveness science, that a clinical bridge is established between academic and healthcare service facilities. An Australian example of the development of a robust clinical bridge through the use of jointly funded positions at the professorial level is outlined. In addition, an analysis of the practical application of Lewin’s model of change management and the contribution of both servant and transformational leadership styles to the bridge building process is provided.

  20. Toward fully automated genotyping: Allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Perlin, M.W.; Burks, M.B. [Carnegie Mellon Univ., Pittsburgh, PA (United States); Hoop, R.C.; Hoffman, E.P. [Univ. of Pittsburgh School of Medicine, PA (United States)


    Human genetic maps have made quantum leaps in the past few years, because of the characterization of >2,000 CA dinucleotide repeat loci: these PCR-based markers offer extraordinarily high PIC, and within the next year their density is expected to reach intervals of a few centimorgans per marker. These new genetic maps open new avenues for disease gene research, including large-scale genotyping for both simple and complex disease loci. However, the allele patterns of many dinucleotide repeat loci can be complex and difficult to interpret, with genotyping errors a recognized problem. Furthermore, the possibility of genotyping individuals at hundreds or thousands of polymorphic loci requires improvements in data handling and analysis. The automation of genotyping and analysis of computer-derived haplotypes would remove many of the barriers preventing optimal use of dense and informative dinucleotide genetic maps. Toward this end, we have automated the allele identification, genotyping, phase determinations, and inheritance consistency checks generated by four CA repeats within the 2.5-Mbp, 10-cM X-linked dystrophin gene, using fluorescein-labeled multiplexed PCR products analyzed on automated sequencers. The described algorithms can deconvolute and resolve closely spaced alleles, despite interfering stutter noise; set phase in females; propagate the phase through the family; and identify recombination events. We show the implementation of these algorithms for the completely automated interpretation of allele data and risk assessment for five Duchenne/Becker muscular dystrophy families. The described approach can be scaled up to perform genome-based analyses with hundreds or thousands of CA-repeat loci, using multiple fluorophors on automated sequencers. 16 refs., 5 figs., 1 tab.

  1. Local genealogies in a linear mixed model for genome-wide association mapping in complex pedigreed populations.

    Directory of Open Access Journals (Sweden)

    Goutam Sahana

    Full Text Available INTRODUCTION: The state-of-the-art for dealing with multiple levels of relationship among the samples in genome-wide association studies (GWAS is unified mixed model analysis (MMA. This approach is very flexible, can be applied to both family-based and population-based samples, and can be extended to incorporate other effects in a straightforward and rigorous fashion. Here, we present a complementary approach, called 'GENMIX (genealogy based mixed model' which combines advantages from two powerful GWAS methods: genealogy-based haplotype grouping and MMA. SUBJECTS AND METHODS: We validated GENMIX using genotyping data of Danish Jersey cattle and simulated phenotype and compared to the MMA. We simulated scenarios for three levels of heritability (0.21, 0.34, and 0.64, seven levels of MAF (0.05, 0.10, 0.15, 0.20, 0.25, 0.35, and 0.45 and five levels of QTL effect (0.1, 0.2, 0.5, 0.7 and 1.0 in phenotypic standard deviation unit. Each of these 105 possible combinations (3 h(2 x 7 MAF x 5 effects of scenarios was replicated 25 times. RESULTS: GENMIX provides a better ranking of markers close to the causative locus' location. GENMIX outperformed MMA when the QTL effect was small and the MAF at the QTL was low. In scenarios where MAF was high or the QTL affecting the trait had a large effect both GENMIX and MMA performed similarly. CONCLUSION: In discovery studies, where high-ranking markers are identified and later examined in validation studies, we therefore expect GENMIX to enrich candidates brought to follow-up studies with true positives over false positives more than the MMA would.

  2. Motivation and Performance of Older Australian Academics: A Pilot Study. (United States)

    Little, Len; Peter, Hollis

    A pilot study of the Australian higher education system was conducted to determine the following: (1) whether department heads follow a client-centered, diagnostic/prescriptive model as developed by the Australian Committee of Directors and Principals in Advanced Education (ACDP), and if not, which process is used; (2) which developmental…

  3. The Sleep Patterns and Well-Being of Australian Adolescents (United States)

    Short, Michelle A.; Gradisar, Michael; Lack, Leon C.; Wright, Helen R.; Dohnt, Hayley


    Aim: Adolescent sleep patterns vary between countries, and these differences influence adolescent functioning and well-being. The present study provides data on the sleep and well-being of Australian adolescents. Methods: 385 adolescents aged 13-18 years were recruited from 8 South Australian schools spanning the socio-economic spectrum.…

  4. Echolocation click source parameters of Australian snubfin dolphins (Orcaella heinsohni)

    DEFF Research Database (Denmark)

    de Freitas, Mafalda; Smith, Joshua N; Jensen, Frants H


    The Australian snubfin dolphin (Orcaella heinsohni) is endemic to Australian waters, yet little is known about its abundance and habitat use. To investigate the feasibility of Passive Acoustic Monitoring for snubfin dolphins, biosonar clicks were recorded in Cygnet Bay, Australia, using a four-el...

  5. The Future of Religious Freedom in Australian Schools (United States)

    Babie, Paul; Mylius, Ben


    This article explores the place of religion within Australian primary and secondary education. It is divided into three parts. The first examines religion within the Australian legal and constitutional structure. The second considers the accommodation of religion in government (public or state) and nongovernment (private) schools, using the State…

  6. Competing Issues in Australian Primary Curriculum: Learning from International Experiences (United States)

    Ewing, Robyn


    There is no doubt that the increasing politicisation of education in an economically rationalist climate is contributing to less equity, access, participation and, therefore, social justice for many Australian primary children. This article initially explores how the development of the impending national Australian curriculum replete with a high…

  7. Policy-Making for Australian Schooling: The New Corporate Federalism. (United States)

    Lingard, Bob


    The corporate federalism concept illustrates the way a national approach to policy development for Australian schooling has been utilized by the Hawke Labor government. Negotiated consensus at the Australian Education Council has been used to arrive at these policies and to circumvent politically the constitutional and financial realities of…

  8. Greek-Australians: A Question of Survival in Multicultural Australia. (United States)

    Smolicz, J. J.


    Argues that Australians from different ethnic backgrounds are not a threat to cohesion as long as they share the overarching values which are reflected in Australia's democracy, economic system, legal institutions, and in Engish as the common language of communication. Discusses the Greek-Australian tradition of family life. (SED)

  9. Philosophy and Ethics in Western Australian Secondary Schools (United States)

    Millett, Stephan; Tapper, Alan


    The introduction of Philosophy and Ethics to the Western Australian Certificate of Education courses in 2008 brought philosophy into the Western Australian secondary school curriculum for the first time. How philosophy came to be included is part of a larger story about the commitment and perseverance of a relatively small number of Australian…

  10. Training at the Australian School of Nuclear Technology

    International Nuclear Information System (INIS)

    Culley, D.; Fredsall, J.R.; Toner, B.


    The Australian School of Nuclear Technology was founded in 1964 as a joint enterprise of the Australian Atomic Energy Commission and the University of New South Wales to support nuclear developments primarily in Australia. However, ASNT has developed into an important centre for nuclear science and technology training within the South East Asian Region with participants also attending from countries outside this Region. (author)

  11. Ethics Education in Australian Preservice Teacher Programs: A Hidden Imperative? (United States)

    Boon, Helen J.; Maxwell, Bruce


    This paper provides a snapshot of the current approach to ethics education in accredited Australian pre-service teacher programs. Methods included a manual calendar search of ethics related subjects required in teacher programs using a sample of 24 Australian universities and a survey of 26 university representatives. Findings show a paucity of…

  12. Teaching Australian Football in Physical Education: Constraints Theory in Practice (United States)

    Pill, Shane


    This article outlines a constraints-led process of exploring, modifying, experimenting, adapting, and developing game appreciation known as Game Sense (Australian Sports Commission, 1997; den Duyn, 1996, 1997) for the teaching of Australian football. The game acts as teacher in this constraints-led process. Rather than a linear system that…

  13. Australian English-Language Textbooks: The Gender Issues (United States)

    Lee, Jackie F. K.; Collins, Peter


    This paper examines the nature and extent of gender stereotyping, both linguistic and pictorial, in a set of 10 Australian English-language textbooks for intermediate learners. In order to determine how accurately the books reflect the status of women in contemporary Australian society a content and linguistic analysis was conducted, focusing on,…

  14. Australian Early Childhood Educators: From Government Policy to University Practice (United States)

    Davies, Sharon; Trinidad, Sue


    This article provides an overview of the Australian Federal Government initiatives in the area of early childhood with regard to the provision of early childhood education and care. These changes have influenced a Western Australian university to develop an innovative birth to 8 years preservice educator education curriculum. Using an ecological…

  15. The "Paradox of Interdisciplinarity" in Australian Research Governance (United States)

    Woelert, Peter; Millar, Victoria


    This paper identifies what can be called the "paradox of interdisciplinarity" (Weingart 2000) in Australian higher education research governance and explores some of its constitutive dimensions. In the Australian context, the paradox of interdisciplinarity primarily concerns the proliferation of a programmatic discourse of…

  16. A Reconceptualisation of "Knowing Asia" in Australian Education (United States)

    Salter, Peta


    Since 1969, over 60 Australian government and non-government policies, documents, committees, working parties and organisations have explored the need to "know Asia". In schools, this engagement is conceptualised as "Asia literacy" and disseminated in the emerging Australian Curriculum through the cross-curriculum priority…

  17. Climate change and the possible health effects on older Australians. (United States)

    Saniotis, Arthur; Irvine, Rod


    Climate change is an important issue for Australia. Climate change research forecasts that Australia will experience accelerated warming due to anthrogenic activities. Australia's aging society will face special challenges that demand current attention. This paper discusses two issues in relation to climate change and older Australians: first, pharmacology and autoregulation; and second, mental health among older Australians.

  18. Australian Catholic Schools Today: School Identity and Leadership Formation (United States)

    Neidhart, Helga; Lamb, Janeen T.


    This article focuses on the challenge of faith leadership in Catholic schools. In particular, it reviews Australian research that has aimed to understand how principals conceptualize and enact their role as faith leaders. Consistent with American research, Australian research found that principals saw themselves as playing a leadership role in the…

  19. Living Smart Homes: A Pilot Australian Sustainability Education Programme (United States)

    Miller, Evonne; Buys, Laurie; Bell, Lorraine


    This article documents the rationale and experience of a pilot Australian sustainability education programme, "Living Smart Homes" (LSH) based on a community-based social marketing model. Inspired by the Australian "Land for Wildlife" scheme, LSH is designed to engage homeowners with sustainable practices through face-to-face…

  20. Australian Bat Lyssavirus in a child: the first reported case. (United States)

    Francis, Joshua R; Nourse, Clare; Vaska, Vikram L; Calvert, Sophie; Northill, Judith A; McCall, Brad; Mattke, Adrian C


    Human infection with Australian Bat Lyssavirus is extremely rare and has not previously been reported in a child. We describe a fatal case of Australian Bat Lyssavirus in an 8-year-old child, and review the literature pertaining to the diagnosis and management of lyssavirus infection with consideration of its applicability to this emerging strain.

  1. Depicting the Italo-Australian migrant experience down under ...

    African Journals Online (AJOL)

    Giorgio Mangiamele is widely regarded as the most significant first-generation Italo-Australian filmmaker of the post-war period. Indeed, as many critics have affirmed, Mangiamele's films of the fifties and sixties are fundamental for an accurate reading of Australian cinema 'in terms of its multiple representations of the ...

  2. Teacher Transculturalism and Cultural Difference: Addressing Racism in Australian Schools (United States)

    Casinader, Niranjan R.; Walsh, Lucas


    The increasing cultural diversity of students in Australia's schools is one of the salient changes in education over the last 30 years. In 2011, nearly half of all Australians had one or more parents born overseas, with migration from China, the Indian subcontinent and Africa increasing during the early 2000s (Australian Bureau of Statistics,…

  3. All Things Being Equal: Observing Australian Individual Academic Workloads (United States)

    Dobele, Angela; Rundle-Thiele, Sharyn; Kopanidis, Foula; Steel, Marion


    The achievement of greater gender equity within Australian universities is a significant issue for both the quality and the strength of Australian higher education. This paper contributes to our knowledge of academic workloads, observing individual workloads in business faculties. A multiple case study method was employed to observe individual…

  4. Civic Engagement and the Arts and Humanities: An Australian Perspective (United States)

    Jones, Adrian


    An Australian scholar in the Arts and Humanities responds to recent US models emphasizing civic-engaged learning as a way to renew the humanities in undergraduate education. Policy contexts and curriculum initiatives of kindred trends in recent Australian undergraduate education in the humanities are contrasted in this essay. The Australian…

  5. Training at the Australian School of Nuclear Technology

    International Nuclear Information System (INIS)

    Culley, D.; Fredsall, J.R.; Toner, B.


    The Australian School of Nuclear Technology (ASNT) was founded in 1964 as a joint enterprise of the Australian Atomic Energy Commission and the University of New South Wales to support nuclear developments primarily in Australia. However, ASNT has developed into an important centre for nuclear science and technology training within the South East Asian Region with participants also attending from countries outside this Region

  6. Dare nuclear energy with the Australian Nuclear Association

    International Nuclear Information System (INIS)



    Australian authorities have been traditionally opposed to nuclear energy. The interdiction to build nuclear power plants in the Australian states without the approval of the federal authority was even officially written in the environment code in 1999. Today coal provides 75% of the electricity needs of Australia. Because of climate warming, things are changing, the Australian government is now considering the possibility of using nuclear energy and a site located in southern Australian has been selected for the disposal of low and intermediate level radioactive wastes. In this context the Australian Nuclear Association (ANA) is developing an ambitious program for the promotion of all the applications of nuclear energy through the organisation of conferences and meetings with various experts of nuclear industry. The aim is to make the public aware of the assets of nuclear energy. (A.C.)

  7. Measurement of Beam Loss at the Australian Synchrotron

    CERN Document Server

    Holzer, EB; Kastriotou, M; Boland, MJ; Jackson, PD; Rasool, RP; Schmidt, J; Welsch, CP


    The unprecedented requirements that new machines are setting on their diagnostic systems is leading to the development of new generation of devices with large dynamic range, sensitivity and time resolution. Beam loss detection is particularly challenging due to the large extension of new facilities that need to be covered with localized detector. Candidates to mitigate this problem consist of systems in which the sensitive part of the radiation detectors can be extended over long distance of beam lines. In this document we study the feasibility of a BLM system based on optical fiber as an active detector for an electron storage ring. The Australian Synchrotron (AS) comprises a 216m ring that stores electrons up to 3GeV. The Accelerator has recently claimed the world record ultra low transverse emittance (below pm rad) and its surroundings are rich in synchrotron radiation. Therefore, the AS provides beam conditions very similar to those expected in the CLIC/ILC damping rings. A qualitative benchmark of beam l...

  8. Australian aboriginal tooth succession, interproximal attrition, and Begg's theory. (United States)

    Corruccini, R S


    In 1954, P.R. Begg analyzed interproximal attrition as a prehistorically universal mechanism to reduce tooth size. With modern processed diets and the virtual disappearance of constant interproximal attrition, Begg asserted, teeth remain too large for the arches and become crowded. Later investigators have questioned Begg's estimate of attritional tooth-size reduction, as well as aspects of his theory relating the succession sequence of permanent teeth to different malocclusions. The present paper examines the theory using longitudinal casts and records of modern Australian aborigines who are among the first generation lacking notable interproximal attrition thanks to a "modernized" diet. Deciduous and permanent tooth size, arch size, and occlusal relational variables were analyzed with respect to the expected occlusal outcomes in the absence of attritional tooth reduction. Permanent incisor overjet correlated with crowding status, as predicted by Begg. On the other hand, longer teeth did not relate to crowding in general nor to crowding in relevant local areas or during developmental stages. Unfavorable leeway space did not relate clearly to crowding or other malocclusions. Lowered correlations among structures and narrowness of the maxilla related more significantly to malocclusion. These results are in keeping with recent thinking that small jaws rather than large teeth underlie tooth/arch discrepancy.

  9. Australian news media framing of medical tourism in low- and middle-income countries: a content review (United States)


    Background Medical tourism – travel across international borders for health care – appears to be growing globally, with patients from high-income nations increasingly visiting low- and middle-income countries to access such services. This paper analyses Australian television and newspaper news and current affairs coverage to examine how medical tourism and these destinations for the practice are represented to media audiences. Methods Electronic copies of Australian television (n = 66) and newspaper (n = 65) items from 2005–2011 about medical care overseas were coded for patterns of reporting (year, format and type) and story characteristics (geographic and medical foci in the coverage, news actors featured and appeals, credibility and risks of the practice mentioned). Results Australian media coverage of medical tourism was largely focused on Asia, featuring cosmetic surgery procedures and therapies unavailable domestically. Experts were the most frequently-appearing news actors, followed by patients. Common among the types of appeals mentioned were access to services and low cost. Factors lending credibility included personal testimony, while uncertainty and ethical dilemmas featured strongly among potential risks mentioned from medical tourism. Conclusions The Australian media coverage of medical tourism was characterised by a narrow range of medical, geographic and ethical concerns, a focus on individual Australian patients and on content presented as being personally relevant for domestic audiences. Medical tourism was portrayed as an exercise of economically-rational consumer choice, but with no attention given to its consequences for the commodification of health or broader political, medical and ethical implications. In this picture, LMICs were no longer passive recipients of aid but providers of a beneficial service to Australian patients. PMID:23384294

  10. Australian news media framing of medical tourism in low- and middle-income countries: a content review. (United States)

    Imison, Michelle; Schweinsberg, Stephen


    Medical tourism - travel across international borders for health care - appears to be growing globally, with patients from high-income nations increasingly visiting low- and middle-income countries to access such services. This paper analyses Australian television and newspaper news and current affairs coverage to examine how medical tourism and these destinations for the practice are represented to media audiences. Electronic copies of Australian television (n = 66) and newspaper (n = 65) items from 2005-2011 about medical care overseas were coded for patterns of reporting (year, format and type) and story characteristics (geographic and medical foci in the coverage, news actors featured and appeals, credibility and risks of the practice mentioned). Australian media coverage of medical tourism was largely focused on Asia, featuring cosmetic surgery procedures and therapies unavailable domestically. Experts were the most frequently-appearing news actors, followed by patients. Common among the types of appeals mentioned were access to services and low cost. Factors lending credibility included personal testimony, while uncertainty and ethical dilemmas featured strongly among potential risks mentioned from medical tourism. The Australian media coverage of medical tourism was characterised by a narrow range of medical, geographic and ethical concerns, a focus on individual Australian patients and on content presented as being personally relevant for domestic audiences. Medical tourism was portrayed as an exercise of economically-rational consumer choice, but with no attention given to its consequences for the commodification of health or broader political, medical and ethical implications. In this picture, LMICs were no longer passive recipients of aid but providers of a beneficial service to Australian patients.

  11. Some Hydroids (Cnidaria, Hydrozoa) from the Great Australian Bight in the collection of the South Australian Museum. (United States)

    Watson, Jeanette E


    This report adds to knowledge of the shelf hydroid fauna of the Great Australian Bight. Hydroids were collected by the South Australian Museum and Department of Primary Industries of South Australia (PIRSA). Well known species are annotated, poorly known species are redescribed and four new species are described.

  12. The Relationship between Self-Esteem and Parenting Style: A Cross-Cultural Comparison of Australian and Vietnamese Australian Adolescents. (United States)

    Herz, Lara; Gullone, Eleonora


    Studied the relationship between self-esteem and parenting style with 118 Vietnamese Australian and 120 Anglo-Australian adolescents. As expected, parenting characterized by high levels of overprotection and low levels of acceptance related negatively with self-esteem for both samples of adolescents. (SLD)

  13. Practice and research in Australian massage therapy: a national workforce survey (United States)

    Wardle, Jonathan L.; Barnett, Rebecca; Adams, Jon


    CPE to be the only significant predictors for increased CPE. Conclusions The massage profession in Australia remains largely part-time and practitioners earn less than the average Australian wage. The factors that underlie research and education involvement appear to be highly individualised and, therefore, policies targeting specific groups may be arbitrary and ineffective. PMID:26082824

  14. Monitoring Diffuse Impacts: Australian Tourism Developments. (United States)

    Warnken; Buckley


    / The scientific quality of monitoring for diffuse environmental impacts has rarely been quantified. This paper presents an analysis of all formal environmental monitoring programs for Australian tourism developments over a 15-year period from 1980 to 1995. The tourism sector provides a good test bed for this study because tourism developments are (1) often adjacent to or even within conservation reserves and other relatively undisturbed natural environments, and (2) often clustered, with resulting cumulative impacts that require detection at an early stage. Here we analyze the precision and reliability with which monitoring programs as actually implemented can detect diffuse environmental impacts against natural variation. Of 175 Australian tourism developments subject to EIA from 1980 to 1993 inclusive, only 13 were subject to formal monitoring. Only 44 individual parameters, in total, were monitored for all these developments together. No baseline monitoring was conducted for nine of the 44 parameters. For the remaining 35, only one was monitored for a full year. Before, after, control, impact, paired sampling (BACIP) monitoring designs were used for 24 of the 44 parameters, and power analysis in 10. The scientific quality of monitoring was significantly better for developments subject to control by the Great Barrier Reef Marine Park Authority (GBRMPA). The key factor appears to be the way in which GBRMPA uses external referees and manages external consultants. The GBRMPA model merits wider adoption.

  15. Biobank classification in an Australian setting. (United States)

    Rush, Amanda; Christiansen, Jeffrey H; Farrell, Jake P; Goode, Susan M; Scott, Rodney J; Spring, Kevin J; Byrne, Jennifer A


    In 2011, Watson and Barnes proposed a schema for classifying biobanks into 3 groups (mono-, oligo-, and poly-user), primarily based upon biospecimen access policies. We used results from a recent comprehensive survey of cancer biobanks in New South Wales, Australia to assess the applicability of this biobank classification schema in an Australian setting. Cancer biobanks were identified using publically available data, and by consulting with research managers. A comprehensive survey was developed and administered through a face-to-face setting. Data were analyzed using Microsoft Excel™ 2010 and IBM SPSS Statistics™ version 21.0. The cancer biobank cohort (n=23) represented 5 mono-user biobanks, 7 oligo-user biobanks, and 11 poly-user biobanks, and was analyzed as two groups (mono-/oligo- versus poly-user biobanks). Poly-user biobanks employed significantly more full-time equivalent staff, and were significantly more likely to have a website, share staff between biobanks, access governance support, utilize quality control measures, be aware of biobanking best practice documents, and offer staff training. Mono-/oligo-user biobanks were significantly more likely to seek advice from other biobanks. Our results further delineate a biobank classification system that is primarily based on access policy, and demonstrate its relevance in an Australian setting.

  16. Healthcare and complicity in Australian immigration detention. (United States)

    Essex, Ryan


    Australian immigration detention has received persistent criticism since its introduction almost 25 years ago. With the recent introduction of offshore processing, these criticisms have intensified. Riots, violence, self-harm, abuse and devastating mental health outcomes are all now well documented, along with a number of deaths. Clinicians have played a central role working in these environments, faced with the overarching issue of delivering healthcare while facilitating an abusive and harmful system. Since the re-introduction of offshore processing a number of authors have begun to discuss the possibility of a boycott. While taking such action may lead to change, further discussion is needed, not only in relation to the impact of a boycott, but whether it is possible for clinicians to engage with this system in more productive, ethical ways. This article utilises a framework proposed by Lepora and Goodin (On complicity and compromise, Oxford University Press, Oxford, 2013) that provides a structured approach to examine complicity and seeks to explore how clinicians have engaged with Australian immigration detention and ultimately whether they should continue to do so.

  17. Hidden biases in Australian energy policy

    International Nuclear Information System (INIS)

    Schlaepfer, August


    The challenges in developing technology for the capture and storage of CO 2 from coal, oil and gas power generation, as well as those associated with the storage of nuclear waste, are widely regarded as solvable. According to proponents of clean coal, oil and gas technologies, as well as the proponents of nuclear technology, it is only a matter of time and resources to find a solution to their waste problems. Similarly, the Australian Government argues that our main efforts need to be concentrated on clean coal technologies, as well as considering the nuclear option. However, when it comes to the challenges associated with renewable energy technologies, like intermittency of wind generated grid power, storage of electricity from renewable energy and so on, there seems to be an attitude amongst Australian energy planners that these challenges represent insurmountable technical and financial problems, and will, at least in the short to medium term, prevent them from becoming a viable alternative to coal, oil, gas and uranium based energy technologies. (author)

  18. The potential for an Australian uranium industry

    International Nuclear Information System (INIS)

    Silver, J.M.


    The production of uranium and its part upgrading to enriched uranium for export could be equivalent to 20-25 per cent of Australia's future export income from coal. Australia could be supplying 15,000 tonnes U/yr. and enrichment services of 2.5 million SWU/yr. by 2000. The principles of nuclear energy, nuclear power reactors and the nuclear fuel cycle are described and the relationship between nuclear power and the requirements for uranium and the other steps in the fuel cycle is discussed. Estimates are given of the future world supply-demand balance for each step in the fuel cycle. A survey is made of world uranium resources and fuel cycle upgrading facilities. The costs of production and pricing are assessed in relation to the potential for an Australian industry. Comments are made on the possibility that Australia could provide the repository for both low-level radioactive waste from small countries and the bulk of the world's high level waste. The impact of a uranium industry on the Australian economy is discussed

  19. The napping behaviour of Australian university students.

    Directory of Open Access Journals (Sweden)

    Nicole Lovato

    Full Text Available The purpose of this study was to evaluate the self-reported sleep and napping behaviour of Australian university students and the relationship between napping and daytime functioning. A sample of 280 university first-year psychology students (median age  = 19.00 years completed a 6-item napping behaviour questionnaire, a 12-item Daytime Feelings and Functioning Scale, the Pittsburg Sleep Quality Index and the Epworth Sleepiness Scale. Results indicated that 53.6% of students reported napping with 34% napping at least 1-2 times per week, and 17% napping three or more occasions per week. Long naps, those over 30 minutes, were taken by 77% of the napping students. Sixty-one percent of students reported they took long naps during the post-lunch dip period, from 2-4 pm. Students who nap at least once per week reported significantly more problems organizing their thoughts, gaining motivation, concentrating, and finishing tasks than students who did not nap. Students who napped also felt significantly more sleepy and depressed when compared to students who did not nap. The results also indicated that nap frequency increased with daytime sleepiness. The majority of students (51% reported sleeping 6-7 hours per night or less. Overall, the results from this study suggest that among this population of Australian first-year university students habitual napping is common and may be used in an attempt to compensate for the detrimental effects of excessive sleepiness.

  20. The napping behaviour of Australian university students. (United States)

    Lovato, Nicole; Lack, Leon; Wright, Helen


    The purpose of this study was to evaluate the self-reported sleep and napping behaviour of Australian university students and the relationship between napping and daytime functioning. A sample of 280 university first-year psychology students (median age  = 19.00 years) completed a 6-item napping behaviour questionnaire, a 12-item Daytime Feelings and Functioning Scale, the Pittsburg Sleep Quality Index and the Epworth Sleepiness Scale. Results indicated that 53.6% of students reported napping with 34% napping at least 1-2 times per week, and 17% napping three or more occasions per week. Long naps, those over 30 minutes, were taken by 77% of the napping students. Sixty-one percent of students reported they took long naps during the post-lunch dip period, from 2-4 pm. Students who nap at least once per week reported significantly more problems organizing their thoughts, gaining motivation, concentrating, and finishing tasks than students who did not nap. Students who napped also felt significantly more sleepy and depressed when compared to students who did not nap. The results also indicated that nap frequency increased with daytime sleepiness. The majority of students (51%) reported sleeping 6-7 hours per night or less. Overall, the results from this study suggest that among this population of Australian first-year university students habitual napping is common and may be used in an attempt to compensate for the detrimental effects of excessive sleepiness.