987 resultados para solute carrier family 40


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This paper develops a simple model of the post-secondary education system in Canada that provides a useful basis for thinking about issues of capacity and access. It uses a supply-demand framework, where demand comes on the part of individuals wanting places in the system, and supply is determined not only by various directives and agreements between educational ministries and institutions (and other factors), but also the money available to universities and colleges through tuition fees. The supply and demand curves are then put together with a stylised tuition-setting rule to describe the “market” of post-secondary schooling. This market determines the number of students in the system, and their characteristics, especially as they relate to “ability” and family background, the latter being especially relevant to access issues. The manner in which various changes in the system – including tuition fees, student financial aid, government support for institutions, and the returns to schooling – are then discussed in terms of how they affect the number of students and their characteristics, or capacity and access.

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Introduction: Family members including children are all impacted by a family member’s mental illness. Although mental health services are increasingly encouraged to engage in family-focused practice, this is not a well-understood concept or practice in mental health care. Methods: An integrative review using systematic methods was conducted with international literature, with the aim of identifying concepts and practices of family-focused practice in child and youth and adult mental health services. Results: Findings from 40 peer-reviewed literature identified a range of understandings and applications of family-focused practice, including who comprises the ‘family’, whether the focus is family of origin or family of procreation or choice, and whether the context of practice is child and youth or adult. ‘Family’ as defined by its members forms the foundation for practice that aims to provide a whole-of-family approach to care. Six core practices comprise a family focus to care: assessment; psychoeducation; family care planning and goal-setting; liaison between families and services; instrumental, emotional and social support; and a coordinated system of care between families and services. Conclusion: By incorporating key principles and the core family-focused practices into their care delivery, clinicians can facilitate a whole-of-family approach to care and strengthen family members’ wellbeing and resilience, and their individual and collective health outcomes.

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Family farms are a fertile source of litigation, especially when it comes to succession planning and inter-generational transfers. The problems are obvious: large value assets, emotional ties to the land, a lack of retirement planning and the ‘older’ generation’s unwillingness to relinquish control, and managing the expectations of siblings or others who have worked on the farm. Recent years have seen a spate of estoppel cases involving farms in both Northern Ireland and England and Wales, brought by children, nephews, close friends and long-term partners who were promised or had expected to inherit farms. The recent decision of the English Court of Appeal in Davies v Davies is another example, this time involving an adult daughter who had worked on her parents’ farm for years in the belief that it would pass to her. When her parents changed their minds, this particular daughter brought a successful proprietary estoppel claim. The issue then turned to satisfying the claim, and what financial remedy the daughter was entitled to.

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Funded by HSC R&D Division, Public Health Agency Parental alcohol misuse or ‘hidden harm’ presents a very significant challenge to public health policy and practice in the UK and internationally. A parent’s alcohol problems can have a profound impact on their children. Children depend on their family to meet their physical, psychological and social needs, their economic security and well-being, all of which can be jeopardised by parents misusing substances (NACD, 2011). The prevalence of parental alcohol misuse is extremely difficult to estimate, due to the ‘hidden’ nature of the problem within the family unit. Approximately 40,000 children in Northern Ireland are estimated to live with parental alcohol misuse (DHSSPS, 2008). In the UK, 30% of children (3.3 to 3.5 million) under 16 years, live with at least one binge drinking parent and 22% of children (2.6. million) with a hazardous drinker (Manning et al., 2009).  

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The presentation describes the researcher’s experience of undertaking sensitive interviews. Background The interviews form part of a current study that is examining bereaved parents’ experience of caring for their child at home as well as the experience of their GP. This study builds on earlier work that found general practitioners (GPs) were at times uncertain of their role in paediatric palliative care and questioned whether their involvement had been beneficial to the child and family. The rarity of childhood cancer deaths makes it difficult for GPs to develop or maintain palliative care knowledge and skills yet the GP is perceived as the gatekeeper for care within the community. Presentation aim To describe the process of both the preparation for, and undertaking of, sensitive interviews. Study methodology The methodology incorporates tape-recorded semi-structured interviews, thematic framework analysis and Q methodology (QM). QM will be used to capture the experiences of GPs who have cared for a child with cancer receiving palliative care as well the perspectives of care experienced by the families. The semi-structured interview sample comprises 10 families (parents/guardians) whose child has been treated at a regional childhood cancer centre and their GPs. A further 40-60 GPs will be involved in the QM. Findings The preparation for these interviews will be discussed and compared to the supportive bereavement visits undertaken within the researcher’s role as a paediatric Macmillan nurse. The experience of undertaking the interviews will be exemplified with findings from the initial and the current, study. Papers’ contribution The researcher’s experience of preparing for and undertaking sensitive interviews may prove beneficial to other researchers.

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Hypertension is a major risk factor for cardiovascular disease and mortality, and a growing global public health concern, with up to one-third of the world’s population affected. Despite the vast amount of evidence for the benefits of blood pressure (BP) lowering accumulated to date, elevated BP is still the leading risk factor for disease and disability worldwide. It is well established that hypertension and BP are common complex traits, where multiple genetic and environmental factors contribute to BP variation. Furthermore, family and twin studies confirmed the genetic component of BP, with a heritability estimate in the range of 30-50%. Contemporary genomic tools enabling the genotyping of millions of genetic variants across the human genome in an efficient, reliable, and cost-effective manner, has transformed hypertension genetics research. This is accompanied by the presence of international consortia that have offered unprecedentedly large sample sizes for genome-wide association studies (GWASs). While GWAS for hypertension and BP have identified more than 60 loci, variants in these loci are associated with modest effects on BP and in aggregate can explain less than 3% of the variance in BP. The aims of this thesis are to study the genetic and environmental factors that influence BP and hypertension traits in the Scottish population, by performing several genetic epidemiological analyses. In the first part of this thesis, it aims to study the burden of hypertension in the Scottish population, along with assessing the familial aggregation and heritialbity of BP and hypertension traits. In the second part, it aims to validate the association of common SNPs reported in the large GWAS and to estimate the variance explained by these variants. In this thesis, comprehensive genetic epidemiology analyses were performed on Generation Scotland: Scottish Family Health Study (GS:SFHS), one of the largest population-based family design studies. The availability of clinical, biological samples, self-reported information, and medical records for study participants has allowed several assessments to be performed to evaluate factors that influence BP variation in the Scottish population. Of the 20,753 subjects genotyped in the study, a total of 18,470 individuals (grouped into 7,025 extended families) passed the stringent quality control (QC) criteria and were available for all subsequent analysis. Based on the BP-lowering treatment exposure sources, subjects were further classified into two groups. First, subjects with both a self-reported medications (SRMs) history and electronic-prescription records (EPRs; n =12,347); second, all the subjects with at least one medication history source (n =18,470). In the first group, the analysis showed a good concordance between SRMs and EPRs (kappa =71%), indicating that SRMs can be used as a surrogate to assess the exposure to BP-lowering medication in GS:SFHS participants. Although both sources suffer from some limitations, SRMs can be considered the best available source to estimate the drug exposure history in those without EPRs. The prevalence of hypertension was 40.8% with higher prevalence in men (46.3%) compared to women (35.8%). The prevalence of awareness, treatment and controlled hypertension as defined by the study definition were 25.3%, 31.2%, and 54.3%, respectively. These findings are lower than similar reported studies in other populations, with the exception of controlled hypertension prevalence, which can be considered better than other populations. Odds of hypertension were higher in men, obese or overweight individuals, people with a parental history of hypertension, and those living in the most deprived area of Scotland. On the other hand, deprivation was associated with higher odds of treatment, awareness and controlled hypertension, suggesting that people living in the most deprived area may have been receiving better quality of care, or have higher comorbidity levels requiring greater engagement with doctors. These findings highlight the need for further work to improve hypertension management in Scotland. The family design of GS:SFHS has allowed family-based analysis to be performed to assess the familial aggregation and heritability of BP and hypertension traits. The familial correlation of BP traits ranged from 0.07 to 0.20, and from 0.18 to 0.34 for parent-offspring pairs and sibling pairs, respectively. A higher correlation of BP traits was observed among first-degree relatives than other types of relative pairs. A variance-component model that was adjusted for sex, body mass index (BMI), age, and age-squared was used to estimate heritability of BP traits, which ranged from 24% to 32% with pulse pressure (PP) having the lowest estimates. The genetic correlation between BP traits showed a high correlation between systolic (SBP), diastolic (DBP) and mean arterial pressure (MAP) (G: 81% to 94%), but lower correlations with PP (G: 22% to 78%). The sibling recurrence risk ratio (λS) for hypertension and treatment were calculated as 1.60 and 2.04 respectively. These findings confirm the genetic components of BP traits in GS:SFHS, and justify further work to investigate genetic determinants of BP. Genetic variants reported in the recent large GWAS of BP traits were selected for genotyping in GS:SFHS using a custom designed TaqMan® OpenArray®. The genotyping plate included 44 single nucleotide polymorphisms (SNPs) that have been previously reported to be associated with BP or hypertension at genome-wide significance level. A linear mixed model that is adjusted for age, age-squared, sex, and BMI was used to test for the association between the genetic variants and BP traits. Of the 43 variants that passed the QC, 11 variants showed statistically significant association with at least one BP trait. The phenotypic variance explained by these variant for the four BP traits were 1.4%, 1.5%, 1.6%, and 0.8% for SBP, DBP, MAP, and PP, respectively. The association of genetic risk score (GRS) that were constructed from selected variants has showed a positive association with BP level and hypertension prevalence, with an average effect of one mmHg increase with each 0.80 unit increases in the GRS across the different BP traits. The impact of BP-lowering medication on the genetic association study for BP traits has been established, with typical practice of adding a fixed value (i.e. 15/10 mmHg) to the measured BP values to adjust for BP treatment. Using the subset of participants with the two treatment exposure sources (i.e. SRMs and EPRs), the influence of using either source to justify the addition of fixed values in SNP association signal was analysed. BP phenotypes derived from EPRs were considered the true phenotypes, and those derived from SRMs were considered less accurate, with some phenotypic noise. Comparing SNPs association signals between the four BP traits in the two model derived from the different adjustments showed that MAP was the least impacted by the phenotypic noise. This was suggested by identifying the same overlapped significant SNPs for the two models in the case of MAP, while other BP traits had some discrepancy between the two sources

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Background: Due to the economic recession, several people in Europe became unemployed. This situation may risk their mental health. Aim: This study explored parents’ perceptions about their unemployment’s effects in daily life during the recession. Methods: A total of 59 unemployed parents (40.7% fathers and 59.3% mothers), ageing 44.4 years (±6.2), answer a question on how the unemployment affected their family lives. Thematic analysis was used to analyse data. Results: The findings suggest that unemployment is a source of adult and youth mental distress and of economic hardship and changes in family relations. Conclusion: Support to unemployed individuals and their families could benefit from these insights when granting the needed financial and socioemotional assistance.

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This dissertation consists of three papers that examine the complexities in upward intergenerational support and adult children’s influence on older adults’ health in changing family contexts of America and China. The prevalence of “gray divorce/repartnering ” in later life after age 55 is on the rise in the United States, yet little is known about its effect on intergenerational support. The first paper uses the life course perspective to examine whether gray divorce and repartnering affect support from biological and stepchildren differently than early divorce and repartnering, and how patterns differ by parents’ gender. Massive internal migration in China has led to increased geographic distance between adult children and aging parents, which may have consequences for old age support received by parents. This topic has yet to be thoroughly explored in China, as most studies of intergenerational support to older parents have focused on the role of coresident children or have not considered the interdependence of multiple parent-child dyads in the family. The second paper adopts the within-family differences approach to assess the influence of non-coresident children’s relative living proximity to parents compared to that of their siblings on their provision of support to parents in rural and urban Chinese families. The study also examines how patterns of the impact are moderated by parents’ living arrangement, non-coresident children’s gender, and parents’ provision of support to children. Taking a multigenerational network perspective, the third paper questions if and how adult children’s socioeconomic status (SES) influences older parents’ health in China. It further examines whether health benefits brought by adult children’s socioeconomic attainment are larger for older adults with lower SES and whether one of the mechanisms through which adult children’s SES affects older parents’ health is by changing their health behaviors. These questions are highly relevant in contemporary China, where adult children have experienced substantial gains in SES and play a central role in old age support for parents. In sum, these three papers take the life course, the within-family differences, and the multigenerational network perspective to address the complexities in intergenerational support and older adults’ health in diverse family contexts.

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Uma ostomia de eliminação intestinal resulta de um procedimento cirúrgico que consiste na ligação de uma parte do intestino delgado ou grosso, a um orifício externo na cavidade abdominal designado de estoma. O utente portador de uma ostomia de eliminação intestinal, devido à sua situação clínica, manifesta um misto de emoções resultante do enorme impacto físico e emocional devido à doença e ao tratamento. A sua própria vida vai desencadear alterações profundas no seu EU, nos estilos de vida, nas relações familiares e sociais, na sua imagem corporal e na autoestima (Pinto, 2012). Foi objetivo deste estudo analisar a perceção que a pessoa portadora de ostomia de eliminação intestinal, seguida na Unidade Local de Saúde Nordeste (ULSNE), tem sobre a sua qualidade de vida (QV). A investigação enquadra-se no domínio da investigação observacional, optando-se pela realização de um estudo descritivo, analítico e transversal, de abordagem quantitativa. Como instrumento de colheita de dados foi utilizado um formulário com questões relativas às características sociodemográficas, a escala de Graffar e a escala de avaliação da qualidade de vida do utente ostomizado. Aceitaram participar no estudo 105 utentes portadores de eliminação intestinal. O sexo predominante é o masculino (50,5%). A classe etária mais representativa é a dos 65 aos 92 anos (78,1%) e o estado civil predominante antes (67,6%) e depois (55,2%) da cirurgia é o de casado. Quanto à atividade laboral, o abandono do trabalho a tempo inteiro, devido à nova situação clínica, foi referido por 94,3% dos inquiridos. Em relação às habilitações académicas, 46,7% sabe ler e escrever, enquadrando-se na classe social média (57,1%). A consulta de estomaterapia na ULSNE ainda não está implementada, mas os inquiridos consideram que a sua implementação seria pertinente (93,3%), facilitando principalmente a adaptação à nova realidade (40%), a ultrapassar dificuldades (28,6%), a evitar complicações/resolver os problemas (9,5%). A média da QV dos participantes neste estudo é de 279,92, superior à média teórica da escala (215), indicando os inquiridos evidenciam um bom nível de qualidade de vida. O enfermeiro estomaterapeuta é o profissional que melhor pode proporcionar toda a informação e suportes necessários, que permitam ultrapassar os problemas e as limitações sentidas pelo ostomizado e pelas pessoas significativas na sua vida.

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How is expected financial support by the family related to individuals' entrepreneurial intentions? By drawing on family embeddedness literature we take a novel perspective and argue that the stronger the financial support that individuals will receive from their family to start a new venture is, the lower is the likelihood that they actually form entrepreneurial intentions. We confirm this prediction on a sample of 23,866 individuals from 19 countries and find in addition that the negative relationship between the expected financial support by the family and entrepreneurial intentions is contingent on the level of family cohesion and individuals' entrepreneurial self-efficacy. These results add valuable knowledge to the entrepreneurship and family embeddedness literature.

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Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.