Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility

Typical migraine is a complex neurological disorder comprised of two main subtypes: migraine with (MA) and without aura (MO). The disease etiology is still unclear, but family studies provide strong evidence that defective genes play an important role. Familial hemiplegic migraine (FHM) is a very rare and severe subtype of MA. It has been proposed that FHM and MA may have a similar genetic etiology. Therefore, genetic studies on FHM provide a useful model for investigating the more prevalent types of typical migraine. FHM in some families has been shown to be caused by mutations in a brain-specific P/Q-type calcium channel alpha1 subunit gene (CACNA1A) on chromosome 19p13. There has also been a report of a CACNA1A mutation being associated with MA in a patient from a family with predominant FHM. We have previously demonstrated suggestive linkage of typical migraine in a large Australian family to the FHM region on chromosome 19p13. These findings suggest that CACNA1A may also be implicated in the etiology of typical migraine in this pedigree. To investigate this possibility, we sequenced two patients carrying the critical susceptibility haplotype surrounding CACNA1A. No disease-causing mutations or polymorphisms were revealed in any of the 47 exons screened. To determine whether the CACNA1A gene was implicated in typical migraine susceptibility in the general Caucasian population, we also analyzed 82 independent pedigrees and a large case control group. We did not detect any linkage or association in these groups and conclude that if CACNA1A plays a role in typical migraine, it does not confer a major effect on the disease.

Equal shared parental responsibility and shared care post-return to Australia under the Hague Child Abduction Convention

This article explores the outcomes experienced by abducting primary carer mothers and their children post-return to Australia under the Hague Convention on Civil Aspects of International Child Abduction.1 The circumstances faced by families that experience international parental child abduction are examined by considering how part VII of the Australian Family Law Act 1975 (Cth) is applied to resolve parenting disputes post-return. At present, the statutory criteria found in part VII encourage an equal shared parental responsibility and shared care parenting approach.2 This emphasis aligns children’s best interests with collaborative parenting3 and their parents living within close geographical proximity of each other to facilitate the practicalities of the approach.4 Arguably, these statutory criteria guide the exercise of judicial discretion to determine a child’s best interests towards a parenting arrangement that is incompatible with the lifestyle and functional characteristics of these families.

A study of outcomes post-return to Australia under the Hague Child Abduction Convention for abducting primary-carer mothers and their children

This article reports the findings of an empirical study of outcomes experienced by abducting primary-carer mothers and their children post-return to Australia under the Hague Child Abduction Convention. The study specifically focused on legal and factual outcomes post-return to Australia as the child's habitual residence. The study contributes an original critique of the Convention's operation by examining the collective operation of Convention return proceedings and Pt VII proceedings under the Family Law Act 1975 (Cth) post-return. Convention return proceedings, and the resolution of the substantive parenting dispute post-return to Australia, are not distinct stages operating in isolation. Viewing them as such is a purely theoretical exercise divorced from the reality of the lives of transnational families. Arguably, a better measure of the Convention's success is the outcomes it produces as part of the entire system designed to address the contemporary problem of international parental child abduction. When a child is returned to Australia this system includes the operation of Australian family law.

Changes in mood, depression and suicidal ideation after commencing pregabalin for neuropathic pain

Background Pregabalin is a treatment option for patients with persistent neuropathic pain. Its use has been associated with changes in mood and the development of depression and/or suicidal ideation. Objective Case presentations were reviewed of five patients reporting changes in mood, depression and suicidal ideation from the first 50 (approximately) patients commenced on pregabalin at the clinic. Discussion Although these patients had a history of depression, their mood had been stable before commencing pregabalin. Soon after commencement they reported changes in mood, and development of depression and/or suicidal ideation, which improved with dose reduction or cessation of pregabalin. Ultimately, all five patients ceased pregabalin treatment. Suicidal ideation is a recog-nised adverse effect of pregabalin. Patients should be warned of and monitored for deterioration in mood.

General practitioners learning qualitative research: A case study of postgraduate education

Background Qualitative research is increasingly being recognised as a vital aspect of primary healthcare research. Teaching and learning how to conduct qualitative research is especially important for general practitioners and other clinicians in the professional educational setting. This article examines a case study of postgraduate professional education in qualitative research for clinicians, for the purpose of enabling a robust discussion around teaching and learning in medicine and the health sciences. Method A series of three workshops was delivered for primary healthcare academics. The workshops were evaluated using a quantitative survey and qualitative free-text responses to enable descriptive analyses. Results Participants found qualitative philosophy and theory the most difficult areas to engage with, and learning qualitative coding and analysis was considered the easiest to learn. Discussion Key elements for successful teaching were identified, including the use of adult learning principles, the value of an experienced facilitator and an awareness of the impact of clinical subcultures on learning.

Is your sample cupboard relevant to your practice?

Sample medications represented 4 (3.8 million Australian dollars) of the Australian general practice promotional budget of pharmaceutical companies in the second quarter of 2005. In the United States, general practitioners have been shown to use sample medication in up to 20 of encounters both for commencing and for full treatment. Given the USA does not have a universal subsidy for medications like Australia, sample use may be higher than Australian GPs operating with the Pharmaceutical Benefits Scheme. Australian GPs perceive benefits for samples as a trial run: to test patient tolerability, enhance patient satisfaction, and for those who cannot afford multiple trials of drugs. Acceptance of samples by GPs is associated with preference for and rapid prescription of new drugs and positive attitudes toward pharmaceutical representatives. Concerns with sample medications include prescribing medication that is not the GP's preferred choice owing to the limited range of samples available. Other concerns include dispensing expired medication and wastage of medications.

Educational attainment: A genome wide association study in 9538 Australians

BACKGROUND Correlations between Educational Attainment (EA) and measures of cognitive performance are as high as 0.8. This makes EA an attractive alternative phenotype for studies wishing to map genes affecting cognition due to the ease of collecting EA data compared to other cognitive phenotypes such as IQ. METHODOLOGY In an Australian family sample of 9538 individuals we performed a genome-wide association scan (GWAS) using the imputed genotypes of approximately 2.4 million single nucleotide polymorphisms (SNP) for a 6-point scale measure of EA. Top hits were checked for replication in an independent sample of 968 individuals. A gene-based test of association was then applied to the GWAS results. Additionally we performed prediction analyses using the GWAS results from our discovery sample to assess the percentage of EA and full scale IQ variance explained by the predicted scores. RESULTS The best SNP fell short of having a genome-wide significant p-value (p = 9.77x10(-7)). In our independent replication sample six SNPs among the top 50 hits pruned for linkage disequilibrium (r(2)<0.8) had a p-value<0.05 but only one of these SNPs survived correction for multiple testing--rs7106258 (p = 9.7*10(-4)) located in an intergenic region of chromosome 11q14.1. The gene based test results were non-significant and our prediction analyses show that the predicted scores explained little variance in EA in our replication sample. CONCLUSION While we have identified a polymorphism chromosome 11q14.1 associated with EA, further replication is warranted. Overall, the absence of genome-wide significant p-values in our large discovery sample confirmed the high polygenic architecture of EA. Only the assembly of large samples or meta-analytic efforts will be able to assess the implication of common DNA polymorphisms in the etiology of EA.

Efectos tamaño y sector sobre la rentabilidad, endeudamiento y coste de la deuda de las empresas familiares riojanas

Ponencia presentada y defendida en las XIV jornadas Hispano Lusas de Gestión Científica celebradas en Azores en febrero de 2004.

Capacidades tecnológicas y certificaciones de calidad: Aplicación empírica a las pymes familiares de La Rioja

Ponencia presentada y defendida en las XIV Jornadas Hispano-Lusas de Gestión Científica celebradas en las Azores en febrero de 2004.

Capacidades directivas y aprendizaje en las pymes exportadoras

[ES] La importancia de las percepciones de la dirección de la empresa ante la exportación puede afectar de manera significativa al comportamiento exportador de las pymes. En concreto, este aspecto puede incidir sobre el hecho de comenzar una política de exportación en la empresa, así como en políticas de consolidación de dichas exportaciones. El trabajo presentado analiza empíricamente estos dos hechos. En primer lugar en qué medida la percepción de la dirección ante la exportación afecta al hecho de comenzar la exportación. En segundo lugar, en caso de ya ser pymes exportadoras, se estudian qué percepciones directivas ayudan a consolidar dicho compromiso exportador. Para ello se desarrollan y validan ciertas escalas que miden la percepción de las ventajas y las barreras a la exportación mediante el empleo de ecuaciones estructurales. Ambos estudios se efectúan teniendo en cuenta la condición de familiar o no de las pymes objeto de estudio, con el fin de efectuar un análisis exploratorio sobre la potencial incidencia de este hecho.

El comportamiento de las empresas familiares y no familiares en los mercados extranjeros: un estudio comparativo

[ES] Debido a que durante las últimas décadas un gran número de empresas e industrias han incrementado su orientación global, el proceso de internacionalización también ha tenido que ser advertido por la empresa familiar como instrumento de expansión y crecimiento. Así, hemos querido prestarle una especial atención a la comparación entre las empresas familiares y no familiares con el fin de examinar aquellas diferencias o similitudes encontradas entre estos dos grupos de firmas atendiendo a su actividad internacional. De esta forma, podremos establecer un marco de referencia para un estudio posterior en mayor profundidad sobre este fenómeno para el caso de las empresas familiares.

Características diferenciadoras de la empresa familiar: aplicación práctica

Este trabajo se centra en profundizar un estudio que ha recibido escasa atención hasta ahora por parte de los investigadores económicos, un estudio sobre las empresas familiares. Son las entidades que predominan en nuestra sociedad, impulsando la economía y el empleo, donde convive el sistema familiar con el sistema empresarial, dando como resultado el florecer de muchas características peculiares. En el trabajo se han analizado estas particularidades, enfatizando conceptos concretos con citas mencionadas anteriormente por otros autores, para luego gracias a una aplicación práctica contrastar lo mencionado en distintos casos reales y extraer conclusiones.

Harreman-estilo berri bat enpresa familiarrekin

[EU]Lan honen helburua, ikuspuntu teoriko eta praktiko batetik ner group erakundea eta enpresa familiarra aztertzea da, erakunde honen enpresa familiarretan eta enpresa familiarrak ner groupen daukan eragina zein den ezagutzeko. Honetarako, harreman estilo berria aztertu ondoren, ner groupeko arduradunari elkarrizketa bat egin eta erakundeko bi enpresa familiar aukeratu ondoren, hauei ere elkarrizketak egin dizkiet biak hurbilagotik ezagutzeko, alderatzeko eta aztertzeko. Honela, enpresa familiarretan harreman estilo berria aplikagarria dela frogatu da baina enpresa familiar bakoitzak dituen baldintzak funtsezkoak izango dira estiloaren ezartzean. Era berean, enpresa familiarrentzat ner group erakundean barneratzea abantaila suposatzen diela aztertu da.

Controle de gestão em empresas familiares que atuam no setor de serviços: estudo de casos.

Atualmente, diversos fatores tornam o setor das empresas prestadoras de serviços o mais importante da economia brasileira. Esse é o setor da economia que mais cresce e mais emprega trabalhadores. Ele representava em 2006, 85,8% das empresas do país, crescendo 34% durante o período compreendido entre os anos de 1999 a 2006. Realizou-se estudo de casos de natureza descritiva com dados primários e secundários, objetivando-se estudar a relação em termos de proximidade ou afastamento do sistema de controle de gestão de cinco empresas familiares prestadoras de serviços, com o plano referencial extraído da literatura pesquisada. O objetivo da pesquisa foi responder a seguinte questão: o sistema de controle gerencial das empresas pesquisadas possui relação de proximidade ou afastamento com os determinantes encontrados na literatura sobre o assunto? Os resultados demonstram que o sistema de controle gerencial das empresas pesquisadas, possui relação de proximidade com os determinantes encontrados na literatura sobre o assunto.

Risorse intangibili e imprese familiari: principali contributi sul tema e nuove prospettive di ricerca

Intangible resources are the distinctive factors for the success of businesses (Barney, 1991) and for this reason the literature has paid particular attention to this issue (Barney, 1991; Hall, 1992,1993; Carmeli, 2004; Galbreath, 2005; Hayton, 2005; Norman, Butler, Ranft, 2013). With this thesis I will analyze existing studies on the subject with particular reference to family businesses - ideal forum for the spread of specific intangibles (Ward, 1988; Habbershon, Williams, 1999; Sirmon & Hitt, 2003; Huybrechts et al., 2011; Rose, Howorth & Discua Cruz, 2014), in order to identify the main areas of research and new research perspectives. Through a narrative review on the general theme of intangible resources, bibliometric analysis of the contributions that jointly address the intangibles and family businesses and co-citation analysis for the definition of the intellectual structure of the studies on the intangible resources in family firms is reached an in-depth study of the issue with relevant academic and practical implications.