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Genetic and environmental influences on migraine: a twin study across six countries. 总被引:7,自引:0,他引:7
Elles J Mulder Caroline Van Baal David Gaist Mikko Kallela Jaakko Kaprio Dan A Svensson Dale R Nyholt Nicholas G Martin Alex J MacGregor Lynn F Cherkas Dorret I Boomsma Aarno Palotie 《Twin research》2003,6(5):422-431
Migraine is a common neurovascular brain disorder that is manifested in recurrent episodes of disabling headache. The aim of the present study was to compare the prevalence and heritability of migraine across six of the countries that participate in GenomEUtwin project including a total number of 29,717 twin pairs. Migraine was assessed by questionnaires that differed between most countries. It was most prevalent in Danish and Dutch females (32% and 34%, respectively), whereas the lowest prevalence was found in the younger and older Finnish cohorts (13% and 10%, respectively). The estimated genetic variance (heritability) was significant and the same between sexes in all countries. Heritability ranged from 34% to 57%, with lowest estimates in Australia, and highest estimates in the older cohort of Finland, the Netherlands, and Denmark. There was some indication that part of the genetic variance was non-additive, but this was significant in Sweden only. In addition to genetic factors, environmental effects that are non-shared between members of a twin pair contributed to the liability of migraine. After migraine definitions are homogenized among the participating countries, the GenomEUtwin project will provide a powerful resource to identify the genes involved in migraine. 相似文献
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The human homologue of yeast CRM1 is in a dynamic subcomplex with CAN/Nup214 and a novel nuclear pore component Nup88. 总被引:34,自引:8,他引:26
M Fornerod J van Deursen S van Baal A Reynolds D Davis K G Murti J Fransen G Grosveld 《The EMBO journal》1997,16(4):807-816
The oncogenic nucleoporin CAN/Nup214 is essential in vertebrate cells. Its depletion results in defective nuclear protein import, inhibition of messenger RNA export and cell cycle arrest. We recently found that CAN associates with proteins of 88 and 112 kDa, which we have now cloned and characterized. The 88 kDa protein is a novel nuclear pore complex (NPC) component, which we have named Nup88. Depletion of CAN from the NPC results in concomitant loss of Nup88, indicating that the localization of Nup88 to the NPC is dependent on CAN binding. The 112 kDa protein is the human homologue of yeast CRM1, a protein known to be required for maintenance of correct chromosome structure. This human CRM1 (hCRM1) localized to the NPC as well as to the nucleoplasm. Nuclear overexpression of the FG-repeat region of CAN, containing its hCRM1-interaction domain, resulted in depletion of hCRM1 from the NPC. In CAN-/- mouse embryos lacking CAN, hCRM1 remained in the nuclear envelope, suggesting that this protein can also bind to other repeat-containing nucleoporins. Lastly, hCRM1 shares a domain of significant homology with importin-beta, a cytoplasmic transport factor that interacts with nucleoporin repeat regions. We propose that hCRM1 is a soluble nuclear transport factor that interacts with the NPC. 相似文献
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Coccidioides immitis is a fungal human pathogen endemic to semiarid soils in southern California and Baja California (Mexico). Results of culture-dependent detection of C. immitis in the past indicated a spotty distribution and unreliable prediction of C. immitis growth sites and accumulation sites. In this project we investigated bulk soil samples for the presence of the pathogen in nonagricultural loamy soils at nine different locations around Bakersfield, Kern County, California, for almost 2 y (2008-2009). To detect the pathogen we used a multiplex PCR method with optimized soil handling and storage, DNA extraction procedure and PCR protocol. With this method we were able to detect C. immitis in 8.42% of our samples in 2008 (n = 285), mostly from early spring to early summer. In 2009 however the percentage of samples positive for C. immitis from the same sites declined to 2.68% (n = 261). We also were able to distinguish C. immitis growth sites from accumulation sites. One site close to a recreation area (Lake Webb, Buena Vista Lake Basin), not previously known to support the growth of C. immitis, was identified as a strong growth site of the fungus. The cultivation-independent method in this study together with soil parameters can be used to predict and confirm C. immitis growth sites and might be a valuable tool for public health institutions. 相似文献
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Background
Effective prevention of excessive alcohol use has the potential to reduce the public burden of disease considerably. We investigated the cost-effectiveness of Screening and Brief Intervention (SBI) for excessive alcohol use in primary care in the Netherlands, which is targeted at early detection and treatment of ‘at-risk’ drinkers.Methodology and Results
We compared a SBI scenario (opportunistic screening and brief intervention for ‘at-risk’ drinkers) in general practices with the current practice scenario (no SBI) in the Netherlands. We used the RIVM Chronic Disease Model (CDM) to extrapolate from decreased alcohol consumption to effects on health care costs and Quality Adjusted Life Years (QALYs) gained. Probabilistic sensitivity analysis was employed to study the effect of uncertainty in the model parameters. In total, 56,000 QALYs were gained at an additional cost of €298,000,000 due to providing alcohol SBI in the target population, resulting in a cost-effectiveness ratio of €5,400 per QALY gained.Conclusion
Prevention of excessive alcohol use by implementing SBI for excessive alcohol use in primary care settings appears to be cost-effective. 相似文献17.
This study explores the giant oyster Hyotissa hyotis as a novel environmental archive in tropical reef environments of the Indo-Pacific. The species is a typical accessory component
in coral reefs, can reach sizes of tens of centimetres, and dates back to the Late Pleistocene. Here, a 70.2-mm-long oxygen
and carbon isotope transect through the shell of a specimen collected at Safaga Bay, northern Red Sea, in May 1996, is presented.
The transect runs perpendicularly to the foliate and vesicular layers of the inner ostracum near the ligament area of the
oyster. The measured δ18O and δ13C records show sinusoidal fluctuations, which are independent of shell microstructure. The δ13C fluctuations exhibit the same wavelength as the δ18O fluctuations but are phase shifted. The δ18O record reflects the sea surface temperature variations from 1957 until 1996, possibly additionally influenced by the local
evaporation. Due to locally enhanced evaporation in the semi-enclosed Safaga Bay, the δ18Oseawater value is estimated at 2.17‰, i.e., 0.3–0.8‰ higher than published open surface water δ18O values (1.36–1.85‰) from the region. The mean water temperature deviates by only 0.4°C from the expected value, and the
minimum and maximum values are 0.5°C lower and 2.9°C higher, respectively. When comparing the mean monthly values, however,
the sea surface temperature discrepancy between reconstructed and global grid datasets is always <1.0°C. The δ13C signal is weakly negatively correlated with regional chlorophyll a concentration and with the sunshine duration, which may
reflect changes in the bivalve’s respiration. The study emphasises the palaeogeographic context in isotope studies based on
fossils, because coastal embayments might not reflect open-water oceanographic conditions. 相似文献
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Alun Evans G Caroline M Van Baal Peter McCarron Marlies DeLange Thorkild I Soerensen Eco J C De Geus Kirsten Kyvik Nancy L Pedersen Tim D Spector Toby Andrew Christopher Patterson John B Whitfield Gu Zhu Nicholas G Martin Jaakko Kaprio Dorret I Boomsma 《Twin research》2003,6(5):432-441
Despite the decline in coronary heart disease in many European countries, the disease remains an enormous public health problem. Although we know a great deal about environmental risk factors for coronary heart disease, a heritable component was recognized a long time ago. The earliest and best known examples of how our genetic constitution may determine cardiovascular risk relate to lipoprotein(a), familial hypercholesterolaemia and apolipoprotein E. In the past 20 years a fair number of polymorphisms assessed singly have shown strong associations with the disease but most are subject to poor repeatability. Twins constitute a compelling natural experiment to establish the genetic contribution to coronary heart disease and its risk factors. GenomEUtwin, a recently funded Framework 5 Programme of the European Community, affords the opportunity of comparing the heritability of risk factors in different European Twin Registries. As an illustration we present the heritabilities of systolic and diastolic blood pressure, based on data from over 4000 twin pairs from six different European countries and Australia. Heritabilities for systolic blood pressure are between 52 and 66% and for diastolic blood pressure between 44 and 66%. There is no evidence of sex differences in heritability estimates and very little to no evidence for a significant contribution of shared family environment. A non-twin based prospective case/cohort study of coronary heart disease and stroke (MORGAM) will allow hypotheses relating to cardiovascular disease, generated in the twin cohorts, to be tested prospectively in adult populations. Twin studies have also contributed to our understanding of the life course hypothesis, and GenomEUtwin has the potential to add to this. 相似文献
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Ronney A. De Abreu John M. van Baal Jan A.J.M. Bakkeren Chris H.M.M. De Bruyn Egbert D.A.M. Schretlen 《Journal of chromatography. B, Analytical technologies in the biomedical and life sciences》1982,227(1):45-52
A method for the identification and quantitation of nucleotide pools in lymphocytes and leukemic blasts is described. Separation of these metabolites was performed by anion-exchange high-performance liquid chromatography using a pH and concentration gradient consisting of several linear steps.The mono-, di- and triphosphates of adenosine, cytidine, guanosine, inosine, uridine and xanthosine could conveniently be separated together with NAD+, cyclic AMP, NADP+ and uridinediphosphoglucose (UDPG).In addition, data on the accuracy and precision of the method are given and its potentials for use in the analysis of nucleotide pools in leukemic lymphoblasts are illustrated. 相似文献
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I. van Baal 《Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology》1928,7(3):436-444
Zusammenfassung Der sich mit warmem Blute ernährende Blutegel Hirudo medicinalis L. zeigt positive Reaktion auf Wärmereize. Ein Unterschied von 3° C gegenüber der Temperatur des umgebenden Wassers von 19° C, ist für Hirudo medicinalis L. ausreichend, um diese positive Reaktion auszulösen. Die untersuchten Tiere zeigten diese positive Reaktion bis zu einer Temperatur von durchschnittlich 47° C über derjenigen des umgebenden Wassers von 21,5° C.Alle ändern untersuchten Arten, die nicht von warmem Blute leben, zeigten diese Reaktionen nicht. 相似文献