795 resultados para mental disease or defect


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"It could easily provide the back-drop for a James Bond movie. Deep inside a mountain near the North Pole, down a fortified tunnel, and behind airlocked doors in a vault frozen to -18 degrees Celsius, scientists are squirreling away millions of seed samples. The samples constitute the very foundation of agriculture, the biological diversity needed so the world's major food crops can adapt to the next pest or disease, or to climate change. It's little wonder that the Svalbard Global Seed Vault has captured the public's imagination more than almost any agricultural topic in recent years. Popular press reports about the ‘Doomsday Vault,’ however, typically mask the complexity of the endeavor and, if anything, underestimate its practical utility." Cary Fowler This chapter considers the use of seed banks to address concerns about intellectual property, climate change and food security. It has a number of themes. First of all, it is interested in the use of ‘Big Science’ projects to address pressing global scientific concerns and Millennium Development Goals. Second, it highlights the increasing use of banks as a means of managing both property and intellectual property across a wide range of fields of agriculture and biotechnology. Third, it considers the linkage of intellectual property, access to genetic resources and benefit sharing. There are a variety of positions in this debate. Some see requirements in respect of access to genetic resources and benefit sharing as an inconvenient burden for science and commerce. Others defend access to genetic resources and benefit sharing as meaningful and productive. Those inclined to somewhat more conspiratorial views suggest that access to genetic resources and benefit sharing are a ruse to facilitate biopiracy. This chapter has a number of components. Section I focuses upon the Consultative Group on International Agricultural Research (CGIAR) network – often raised as a model for Climate Innovation Centres. Section II considers the Svalbard Global Seed Vault – the so-called Doomsday Vault. After a consideration of the World Summit on Food Security in 2009, it is concluded in this chapter that any future international agreement on climate change needs to address intellectual property, plant genetic resources and food security.

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Hereditary haemochromatosis (HH) is the most common lethal monogenic human disease, affecting roughly 1 in 300 white northern Europeans. Homozygosity for the C282Y polymorphism within the HFE gene causes more than 80% of cases, with compound heterozygosity of the C282Y and H63D polymorphism also increasing susceptibility to disease. The aim of this study was to determine the frequency of the C282Y and H63D polymorphisms in the disease, and to assess the risk of HH in heterozygotes for the C282Y polymorphism. 128 patients were recruited because of either radiographic chondrocalcinosis (at least bicompartmental knee disease or joints other than the knee involved) or CPPD pseudogout. Genotyping of the HFE C282Y and H63D mutations was performed using PCR/SSP and genotypes for the C282Y polymorphism confirmed by PCR/RFLP. Historical white European control data were used for comparison. Two previously undiagnosed C282Y homozygotes (1.6%), and 16 C282Y heterozygotes (12.5%), including four (3.1%) C282Y/ H63D compound heterozygotes were identified. This represents a significant overrepresentation of C282Y homozygotes (relative risk 3.4, p-0.037), but the number of heterozygotes was not significantly increased. At a cost per test of £1 for each subject, screening all patients with chondrocalcinosis using the above ascertainment criteria costs only £64 for each case of haemochromatosis identified, clearly a highly cost effective test given the early mortality associated with untreated haemochromatosis. Routine screening for haemochromatosis in patients with appreciable chondrocatcinosis is recommended.

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Bronchiectasis unrelated to cystic fibrosis is characterized by chronic wet or productive cough, recurrent exacerbations and irreversible bronchial dilatation. After antibiotics and vaccines became available and living standards in affluent countries improved, its resulting reduced prevalence meant bronchiectasis was considered an ‘orphan disease’. This perception has changed recently with increasing use of CT scans to diagnose bronchiectasis, including in those with severe chronic obstructive pulmonary disease or ‘difficult to control’ asthma, and adds to its already known importance in non-affluent countries and disadvantaged Indigenous communities. Following years of neglect, there is renewed interest in identifying the pathogenetic mechanisms of bronchiectasis, including the role of infection, and conducting clinical trials. This is providing much needed evidence to guide antimicrobial therapy, which has relied previously upon extrapolating treatments used in cystic fibrosis and chronic obstructive pulmonary disease. While many knowledge gaps and management challenges remain, the future is improving for patients with bronchiectasis.

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Bone and joint diseases are major causes of morbidity and mortality worldwide, and their prevalence is increasing as the average population age increases. Most common musculoskeletal diseases show significant heritability, and few have treatments that prevent disease or can induce true treatment-free, disease-free remission. Furthermore, despite valiant efforts of hypothesis-driven research, our understanding of the etiopathogenesis of these conditions is, with few exceptions, at best moderate. Therefore, there has been a long-standing interest in genetics research in musculoskeletal disease as a hypothesis-free method for investigating disease etiopathogenesis. Important contributions have been made through the identification of monogenic causes of disease, but the holy grail of human genetics research has been the identification of the genes responsible for common diseases. The development of genome-wide association (GWA) studies has revolutionized this field, and led to an explosion in the number of genes identified that are definitely involved in musculoskeletal disease pathogenesis. However, this approach will not identify all common disease genes, and although the current progress is exciting and proves the potential of this research discipline, other approaches will be required to identify many of the types of genetic variation likely to be involved.

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Ankylosing spondylitis (AS) is a common and highly familial rheumatic disorder. The sibling recurrence risk ratio for the disease is 63 and heritability assessed in twins > 90%. Although MHC genes, including HLA-B27, contribute only 20-50% of the genetic risk for the disease, no non-MHC gene has yet been convincingly demonstrated to influence either susceptibility to the disease or its phenotypic expression. Previous linkage and association studies have suggested the presence of a susceptibility gene for AS close to, or within, the cytochrome P450 2D6 gene (CYP2D6, debrisoquine hydroxylase) located at chromosome 22q13.1. We performed a linkage study of chromosome 22 in 200 families with AS affected sibling-pairs. Association of alleles of the CYP2D6 gene was examined by both case-control and within-family means. For case-control studies, 617 unrelated individuals with AS (361 probands from sibling-pair and parent-case trio families and 256 unrelated non-familial sporadic cases) and 402 healthy ethnically matched controls were employed. For within-family association studies, 361 families including 161 parent-case trios and 200 affected sibling-pair families were employed. Homozygosity for poor metabolizer alleles was found to be associated with AS. Heterozygosity for the most frequent poor metabolizer allele (CYP2D6*4) was not associated with increased susceptibility to AS. Significant within-family association of CYP2D6*4 alleles and AS was demonstrated. Weak linkage was also demonstrated between CYP2D6 and AS. We postulate that altered metabolism of a natural toxin or antigen by the CYP2D6 gene may increase susceptibility to AS.

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One hundred and seven children with faecal incontinence were evaluated and managed over a 3 year period by a multidisciplinary team. After initial clinical assessment, evaluation of defaecatory mechanisms (using a balloon model) and assessment of personal-social development and self-concept were undertaken. Management was based on initial bowel evacuation, short-term laxatives, and habit training involving systematic use of positive reinforcement; 69 children received biofeedback conditioning. Idiopathic megacolon with constipation and soiling was the most common finding (98 cases). Other diagnoses included previously undiagnosed neurogenic bowel (three cases), post-surgical anal anomalies (four cases), and psychogenic encopresis (two cases). Idiopathic megacolon was characterized by decreased rectal sensation, increased threshold for external sphincter relaxation and an inability to evacuate. Faecal incontinence was associated with an undesirably low social self-concept (70% of the 40 evaluated), but was not related to a delay in development (mean general developmental quotient = 105 ± 8, for the 35 tested). Family psychopathology warranting referral for family therapy was found in 14 children (13%). The management programme yielded a short-term (3 months) cure rate of 68% and a long-term (12 months) cure rate of 90%, with 10% having continued soiling which varied from occasional to several incidents/week. No significant improvement in self-concept was observed overall, although marked improvements were observed in some children. We conclude that disordered defaecatory dynamics are a major determinant of faecal incontinence in children. Undesirably low social self-concepts but normal developmental ability accompany this condition. Management is facilitated by a multidisciplinary approach, acknowledging the role of both behavioural and physiological components of the problem. This approach is effective in eradicating soiling in the majority of cases, comparing favourably with other published data.

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According to the models conceptualizing work stress, increased risk of health problems arise when high job demands co-occur with low job control (the demand-control model) or the efforts invested by the employee are disproportionately high compared to the rewards received (effort-reward imbalance model). This study examined the association between work stress and early atherosclerosis with particular attention to the role of pre-employment risk factors and genetic background in this association. The subjects were young healthy adults aged 24-39 who were participating in the 21-year follow-up of the ongoing prospective "Cardiovascular Risk in Young Finns" study in 2001-2002. Work stress was evaluated with questionnaires on demand-control model and on effort-reward model. Atherosclerosis was assessed with ultrasound of carotid artery intima-media thickness (IMT). In addition, risk for enhanced atherosclerotic process was assessed by measuring with heart rate variability and heart rate. Pre-employment risk factors, measured at age 12 to 18, included such as body mass index, blood lipids, family history of coronary heart disease, and parental socioeconomic position. Variants of the neuregulin-1 were determined using genomic DNA. The results showed that higher work stress was associated with higher IMT in men. This association was not attenuated by traditional risk factors of atherosclerosis and coronary heart disease or by pre-employment risk factors measured in adolescence. Neuregulin-1 gene moderated the association between work stress and IMT in men. A significant association between work stress and IMT was found only for the T/T genotype of the neuregulin-1 gene but not for other genotypes. Among women an association was found between higher work stress and lower heart rate variability, suggesting higher risk for developing atherosclerosis. These associations could not be explained by demographic characteristics or coronary risk factors. The present findings provide evidence for an association between work stress and atherosclerosis in relatively young population. This association seems to be modified by genetic influences but it does not appear to be confounded by pre-employment adolescent risk factors.

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The ever expanding availability of technology-based mental health services and resources has opened up new areas of psychological practice and research. There are many reasons to embrace this technology movement, whether specialising in providing e-mental health services, conducting research on e-mental health or using technology to assist you in your work in other fields of psychology. e-mental health services not only offer more treatment choices for clients but they provide health professionals with an array of free and comprehensive resources that can help streamline their face-to-face work. This growth in ePsychology (the application of e-mental health by psychologists) also opens up an exciting range of research and teaching possibilities. In this article we cover what ePsychology can offer the early career psychologist.

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Association mapping seeks to identify marker alleles present at significantly different frequencies in cases carrying a particular disease or trait compared with controls. Genome-wide association studies are increasingly replacing candidate gene-based association studies for complex diseases, where a number of loci are likely to contribute to disease risk and the effect size of each particular risk allele is typically modest or low. Good study design is essential to the success of an association study, and factors such as the heritability of the disease under investigation, the choice of controls, statistical power, multiple testing and whether the association can be replicated need to be considered before beginning. Likewise, thorough quality control of the genotype data needs to be undertaken prior to running any association analyses. Finally, it should be kept in mind that a significant genetic association is not proof positive that a particular genetic locus causes a disease, but rather an important first step in discovering the genetic variants underlying a complex disease.

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Microfungi that cause disease or are associated with diseased plants in the wet tropics of northern Queensland are listed. A total of 206 host-pathogen combinations on 148 host species has been compiled from the results of plant disease surveys in the Wet Tropics World Heritage Area in 1992 and 1993, from herbarium records and from previously published host-pathogen combinations.

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Approximately 130,000 ha of hardwood plantations have been established in north-eastern Australia in the last 15 years. As a result of poor taxa selection approximately 25,000 ha have failed due to drought, pest and disease or extreme weather events (drought and cyclones). Given the predicted impacts of climate change in north-eastern Australia (reduced rainfall, increased temperatures and an increase in extreme weather conditions, particularly drought, storms and cyclones), selection of the right taxa for plantation development is even more critical as the taxon planted needs to be able to perform well under the environments experienced at planting as well as those that may develop over in 30 years time as a result of changing climate.

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This paper discusses my current research which aims to re-member the site of the Peel Island Lazaret through re-imagining the Teerk Roo Ra forest as a series of animated artworks. Teerk Roo Ra National Park (formally known as Peel Island) is a small island in Moreton Bay, Queensland and is visible on the ferry journey from Cleveland to Stradbroke Island. The island has an intriguing history, and is the site of a former Lazaret and quarantine station. The Lazaret treated patients diagnosed with Hansen’s disease (or Leprosy), and operated between 1907 and 1959. In this paper I will discuss conceptions of the non-indigenous historical context of the Peel Island Lazaret and the notion of the liminal state (Turner,1967). Through this discussion conceptions of place from Australian cultural theorist Ross Gibson are also examined. The concept of two overlapping realms is then explored through the clues and shared stories about the people who inhabited the site. There is then an explanation of my own approach to re-member this place through re-imagining the forest that witnessed the events of the Lazaret. I then draw on theories of the uncanny from German Psychiatrist Ernst Jentsch, Austrian Neurologist Sigmund Freud and South African animation theorist Meg Rickards to argue that my experience of the forest of Teerk Roo Ra was an uncanny experience where two worlds or states of mind existed simultaneously and overlapped, causing a viscerally unsettling uncanny experience. Through an analysis of Czech Surrealist Animator Jan Švankmajer’s cinematic narrative Down to the cellar (1982), my creative work Structure #24(2011), and Australian Artist Patricia Piccinini’s cinematic artwork The Gathering (2007), I discuss the situation of the inanimate and the animate co-existing simultaneously. Using this approach I propose an understanding of the uncanny as an intellectual uncertainty as outlined by Jentsch (1906). I also develop the notion of the familiar being concealed and becoming unfamiliar through mimicry (Freud, 1919). These discussions form an introduction to my creative work Nocturne #5(2014) which re-members the forests of Teerk Roo Ra as an uncanny place primarily expressed through animation.

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Concept inventory tests are one method to evaluate conceptual understanding and identify possible misconceptions. The multiple-choice question format, offering a choice between a correct selection and common misconceptions, can provide an assessment of students' conceptual understanding in various dimensions. Misconceptions of some engineering concepts exist due to a lack of mental frameworks, or schemas, for these types of concepts or conceptual areas. This study incorporated an open textual response component in a multiple-choice concept inventory test to capture written explanations of students' selections. The study's goal was to identify, through text analysis of student responses, the types and categorizations of concepts in these explanations that had not been uncovered by the distractor selections. The analysis of the textual explanations of a subset of the discrete-time signals and systems concept inventory questions revealed that students have difficulty conceptually explaining several dimensions of signal processing. This contributed to their inability to provide a clear explanation of the underlying concepts, such as mathematical concepts. The methods used in this study evaluate students' understanding of signals and systems concepts through their ability to express understanding in written text. This may present a bias for students with strong written communication skills. This study presents a framework for extracting and identifying the types of concepts students use to express their reasoning when answering conceptual questions.

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Background Investigating population changes gives insight into effectiveness and need for prevention and rehabilitation services. Incidence rates of amputation are highly varied, making it difficult to meaningfully compare rates between studies and regions or to compare changes over time. Study Design Historical cohort study of transtibial amputation, knee disarticulation, and transfemoral amputations resulting from vascular disease or infection, with/without diabetes, in 2003-2004, in the three Northern provinces of the Netherlands. Objectives To report the incidence of first transtibial amputation, knee disarticulation, or transfemoral amputation in 2003-2004 and the characteristics of this population, and to compare these outcomes to an earlier reported cohort from 1991 to 1992. Methods Population-based incidence rates were calculated per 100,000 person-years and compared across the two cohorts. Results Incidence of amputation was 8.8 (all age groups) and 23.6 (≥45 years) per 100,000 person-years. This was unchanged from the earlier study of 1991-1992. The relative risk of amputation was 12 times greater for people with diabetes than for people without diabetes. Conclusions Investigation is needed into reasons for the unchanged incidence with respect to the provision of services from a range of disciplines, including vascular surgery, diabetes care, and multidisciplinary foot clinics. Clinical relevance This study shows an unchanged incidence of amputation over time and a high risk of amputation related to diabetes. Given the increased prevalence of diabetes and population aging, both of which present an increase in the population at risk of amputation, finding methods for reducing the rate of amputation is of importance.

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Objective: To document electroencephalogram (EEG) changes and their correlation with clinical parameters in a newly diagnosed pediatric cohort of type 1 diabetes mellitus (T1DM) patients with and without diabetic ketoacidosis (DKA) and to define their medium term utility and significance. Research design and methods: Prospective longitudinal study of children presenting with T1DM. EEGs were performed within 24 h of diagnosis, day 5, and at 6 months post-diagnosis and reviewed by a neurologist blinded to clinical status. Severity of encephalopathy was graded from 1 to 5 using the Aoki and Lombroso encephalopathy scale. Cognitive abilities were assessed using standardized tests of attention, memory, and intelligence. Results: Eighty eight children were recruited; 34 presented with DKA. Abnormal background slowing was more often observed in the first 24 h in children with DKA (p = 0.01). Encephalopathy scores on day 1 correlated with initial pH, CO2, HCO3, base excess, respiratory rate, heart rate, diastolic blood pressure, and IV fluid intake (all parameters p < 0.05). EEG scores at day 1 did not correlate with contemporaneous mental state or cognition in the medium term. Conclusions: DKA was associated with significant clinical and neurophysiologic signs of brain dysfunction at presentation. While EEG is sensitive to the detection of encephalopathy in newly diagnosed T1DM, it has limited use in identifying children at risk of later cognitive deficits.