42 research outputs found

    Élelmiszerek szelĂ©ntartalmĂĄnak meghatĂĄrozĂĄsa Ă©s szintfelmĂ©rĂ©se I. : szelĂ©nkoncentrĂĄciĂł meghatĂĄrozĂĄsa hidridgenerĂĄtoros atomabszorpciĂłs spektrometriĂĄval

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    SzerzƑk Ă©lelmiszerek Ă©s biolĂłgiai mintĂĄk szelĂ©ntartalmĂĄnak meghatĂĄrozĂĄsĂĄra perklĂłrsavas-salĂ©tromsavas-kĂ©nsavas feltĂĄrĂĄst Ă©s hidridgenerĂĄtoros mĂ©rĂ©si mĂłdszert alkalmaztak. Az Ă­gy kialakĂ­tott eljĂĄrĂĄssal sikerĂŒlt kikĂŒszöbölni az interelementĂĄris interferenciĂĄkat is. A mĂłdszert, melynek kivitelezĂ©se egyszerĂ», takarĂ©kos Ă©s megbĂ­zhatĂł, nĂ©hĂĄny statisztikai Ă©rtĂ©kkel jellemzik Ă©s több Ă©lelmiszer-, illetve biolĂłgiai minta vizsgĂĄlati eredmĂ©nyĂ©rĂŽl is szĂĄmot adnak. A method for the determination of the selenium content of foodstuffs and biological samples was applied based on a perkloricnitric-sulphuric acid digestion mixture and hydride generation atomic absorption spectrometry. Interelement interferences could be eliminated using this technique. The method - which is easy to perform, economical and reliable - is described by a few statistical parameters and selenium concentrations of various food and biological samples are reported. Authoren beschreiben eine Methode zur Bestimmung der Selenkonzentration von Lebensmitteln und biologischen Proben mit Hilfe von Hydridgeneration-Atomabsorptionsspektrometrie, die als Aufschlußgemisch ein PerchlorsĂ€ure, SalpetersĂ€ure und SchwefelsĂ€ure enthaltendes Gemisch verwendet. Mit dieser Methode konnten auch interelementare Intferferenzen eliminiert weren. Die Methode, die leicht zu handhaben ist sowie als sparsam und zuverlĂ€ssig bezeichnet werden kann, wird mit einigen statistischen Parametern charakterisiert, und es werden ĂŒber Untersuchungsergebnisse von mehreren Lebensmittel- und biologischen Proben berichtet

    Psychological Adjustment and Knowledge About Hereditary Hemochromatosis in a Clinic-Based Sample: A Prospective Study

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    This study assessed psychological adjustment and quality of life relative to population-based norms and knowledge about hereditary hemochromatosis in a sample of 101 patients who attended a hemochromatosis clinic. Participants were assessed prior to their clinic visit, and two weeks and 12 months after attendance, using self-administered questionnaires. Mean Mental Health Component Scores from the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) (45.3, 95% CI 43.2, 47.4) were as compromised as those found amongst stroke victims (45.9, 95% CI 42.8, 49.0) who had participated in a national health survey. Recall of the genetic testing result was less than optimal, in that only 69.3% of those with genetic testing results knew whether they carried one or two mutations. This study demonstrates that patients would benefit from routine assessment of psychological distress and referral to mental health professionals of those whose levels of distress suggest a need for clinical intervention. Results also show that patients may benefit from strategies aimed at improving recall of genetic testing results

    Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

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    The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the , or genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically confirmed HJV, HAMP and TFR2 HH was performed. Phenotypic and clinical data from a total of 156 subjects with non-HFE HH was extracted from 53 publications and compared with data from 984 subjects with -p.C282Y homozygous HH from the QIMR Berghofer Hemochromatosis Database. Analyses confirmed that non-HFE forms of HH have an earlier age of onset and a more severe clinical course than HFE HH. HJV and HAMP HH are phenotypically and clinically very similar and have the most severe presentation, with cardiomyopathy and hypogonadism being particularly prevalent findings. TFR2 HH is more intermediate in its age of onset and severity. All clinical outcomes analyzed were more prevalent in the juvenile forms of HH, with the exception of arthritis and arthropathy which were more commonly seen in HFE HH. This is the first comprehensive analysis comparing the different phenotypic and clinical aspects of the genetic forms of HH and the results will be valuable for the differential diagnosis and management of these conditions. Importantly, our analyses indicate that factors other than iron overload may be contributing to joint pathology in subjects with HFE HH

    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

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    Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis

    Smart investments in sustainable food production: revisiting mixed crop-livestock systems

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    Farmers in mixed crop-livestock systems produce about half of the world’s food. In small holdings around the world, livestock are reared mostly on grass, browse, and nonfood biomass from maize, millet, rice, and sorghum crops and in their turn supply manure and traction for future crops. Animals act as insurance against hard times and supply farmers with a source of regular income from sales of milk, eggs, and other products. Thus, faced with population growth and climate change, small-holder farmers should be the first target for policies to intensify production by carefully managed inputs of fertilizer, water, and feed to minimize waste and environmental impact, supported by improved access to markets, new varieties, and technologies

    Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis

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    Hereditary haemochromatosis is a primary inherited disorder of iron metabolism leading to progressive iron loading of parenchymal cells of the liver and other organs with diverse clinical manifestations, including cirrhosis, diabetes and skin pigmentation. This chapter will focus on HFE-associated hereditary haemochromatosis, which accounts for approximately 90% of cases in Caucasian populations. Penetrance is incomplete, with variable clinical expression. The majority of cases demonstrate biochemical expression, but a much lower proportion develop advanced disease. Clinical disease—especially hepatic fibrosis—is related to the level of body iron stores, which is reflected primarily in the liver. The available evidence indicates that adequate screening and diagnostic strategies ensure that early case detection and treatment occur prior to the development of irreversible end-organ damage. The most cost-effective methods of early case detection are family (cascade) screening and evaluation of potential cases by primary care physicians with a high index of clinical suspicion

    Invasive pheumococcal disease in Central Australia. by Paul J. Torzillo [et al]

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    To document the incidence, case fatality, clinical and demographic features of invasive pneumococcal disease
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