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European Populations (european + population)
Kinds of European Populations Selected AbstractsSkeletal Estimation and Identification in American and East European Populations,JOURNAL OF FORENSIC SCIENCES, Issue 3 2008Erin H. Kimmerle Ph.D. Abstract:, Forensic science is a fundamental transitional justice issue as it is imperative for providing physical evidence of crimes committed and a framework for interpreting evidence and prosecuting violations to International Humanitarian Law (IHL). The evaluation of evidence presented in IHL trials and the outcomes various rulings by such courts have in regard to the accuracy or validity of methods applied in future investigations is necessary to ensure scientific quality. Accounting for biological and statistical variation in the methods applied across populations and the ways in which such evidence is used in varying judicial systems is important because of the increasing amount of international forensic casework being done globally. Population variation or the perceived effect of such variation on the accuracy and reliability of methods is important as it may alter trial outcomes, and debates about the scientific basis for human variation are now making their way into international courtrooms. Anthropological data on population size (i.e., the minimum number of individuals in a grave), demographic structure (i.e., the age and sex distribution of victims), individual methods applied for identification, and general methods of excavation and trauma analysis have provided key evidence in cases of IHL. More generally, the question of population variation and the applicability of demographic methods for estimating individual and population variables is important for American and International casework in the face of regional population variation, immigrant populations, ethnic diversity, and secular changes. The reliability of various skeletal aging methods has been questioned in trials prosecuted by the International Criminal Tribunal for the Former Yugoslavia (ICTY) in The Prosecutor of the Tribunal against Radislav Krsti, (Case No. IT-98-33, Trial Judgment) and again in the currently ongoing trial of The Prosecutor of the Tribunal against Zdravko Tolimir, Radivolje Mileti,, Milan Gvero, Vinko Pandurevi,, Ljubisa Beara, Vujadin Popovi,, Drago Nikoli,, Milorad Trbi,, Ljubomir Borovcanin (IT-05-88-PT, Second Amended Indictment). Following the trial of General Krsti,, a collaborative research project was developed between the Forensic Anthropology Center at The University of Tennessee (UT) and the United Nations, International Criminal Tribunal for the Former Yugoslavia, Office of the Prosecutor (ICTY). The purpose of that collaboration was to investigate methods used for the demographic analysis of forensic evidence and where appropriate to recalibrate methods for individual estimation of age, sex, and stature for specific use in the regions of the former Yugoslavia. The question of "local standards" and challenges to the reliability of current anthropological methods for biological profiling in international trials of IHL, as well as the performance of such methods to meet the evidentiary standards used by international tribunals is investigated. Anthropological methods for estimating demographic parameters are reviewed. An overview of the ICTY-UT collaboration for research aimed at addressing specific legal issues is discussed and sample reliability for Balkan aging research is tested. The methods currently used throughout the Balkans are discussed and estimated demographic parameters obtained through medico-legal death investigations are compared with identified cases. Based on this investigation, recommendations for improving international protocols for evidence collection, presentation, and research are outlined. [source] Estimation of Age-at-Death for Adult Males Using the Acetabulum, Applied to Four Western European Populations,JOURNAL OF FORENSIC SCIENCES, Issue 4 2007Carme Rissech Ph.D. Abstract:, Methods to estimate adult age from observations of skeletal elements are not very accurate and motivate the development of better methods. In this article, we test recently published method based on the acetabulum and Bayesian inference, developed using Coimbra collection (Portugal). In this study, to evaluate its utility in other populations, this methodology was applied to 394 specimens from four different documented Western European collections. Four strategies of analysis to estimate age were outlined: (a) each series separately; (b) on Lisbon collection, taken as a reference Coimbra collection; (c) on Barcelona collection, taken as a reference both Portuguese collections; and (d) on London collection taken as reference the three Iberian collections combined. Results indicate that estimates are accurate (83,100%). As might be expected, the least accurate estimates were obtained when the most distant collection was used as a reference. Observations of the fused acetabulum can be used to make accurate estimates of age for adults of any age, with less accurate estimates when a more distant reference collection is used. [source] Type 2 diabetes mellitus, impaired glucose tolerance and associated factors in a rural Palestinian villageDIABETIC MEDICINE, Issue 10 2000A. Husseini SUMMARY Aims To investigate the prevalence of Type 2 diabetes mellitus and impaired glucose tolerance (IGT) and to identify risk factors associated with diabetes in a rural Palestinian village. Methods A cross-sectional, population-based study investigating 500 adults aged 30,65 years (response rate 85%) determined the diabetes status using the oral glucose tolerance test (OGTT). A standard questionnaire, a simple clinical examination and laboratory tests assessed blood lipids, blood pressure, waist-to-hip ratio (WHR), body mass index (BMI) and other risk factors for diabetes Results The prevalence of Type 2 diabetes was 9.8% (95% confidence interval 7.3,12.3) and IGT 8.6% (6.1,11.1), while the prevalence standardized to the European population was 11.6% (8.8,14.4) for Type 2 diabetes and 10.3% (7.6,13.0) for IGT. Age, positive family history, high triglycerides level, and high WHR were significantly associated with Type 2 diabetes. Conclusions Of the factors associated with diabetes, WHR and triglycerides levels are potentially modifiable, and should be addressed by preventive health activities. The high prevalence of Type 2 diabetes mellitus and its potential increase as a result of the ageing of the Palestinian population constitutes a major public health problem. [source] Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian populationEUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2010M. Hasanzad Background and purpose:, Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Carrier frequency studies of SMA have been reported for various populations. Although no large-scale population-based studies of SMA have been performed in Iran, previous estimates have indicated that the incidence of autosomal recessive disorder partly because of the high prevalence of consanguineous marriage is much higher in the Iranian population than in other populations. Methods:, In this study, we used a reliable and highly sensitive quantitative real-time PCR assay with SYBR green I dye to detect the copy number of the SMN1 gene to determine the carrier frequency of SMA in 200 healthy unrelated, non-consanguineous couples from different part of Iran. Results:, To validate the method in our samples, we determined the relative quantification (RQ) of patients with homozygous deletion (0.00) and hemyzygous carriers (0.29,0.55). The RQ in 10 of 200 normal individuals were within the carrier range of 0.31,0.57, estimating a carrier frequency of 5% in the Iranian population. Conclusions:, Our data show that the SMA carrier frequency in Iran is higher than in the European population and that further programs of population carrier detection and prenatal testing should be implemented. [source] THE AFRICANIZATION OF HONEYBEES (APIS MELLIFERA L.) OF THE YUCATAN: A STUDY OF A MASSIVE HYBRIDIZATION EVENT ACROSS TIMEEVOLUTION, Issue 7 2002Kylea E. Clarke Abstract Until recently, African and European subspecies of the honeybee (Apis mellifera L.) had been geographically separated for around 10,000 years. However, human-assisted introductions have caused the mixing of large populations of African and European subspecies in South and Central America, permitting an unprecedented opportunity to study a large-scale hybridization event using molecular analyses. We obtained reference populations from Europe, Africa, and South America and used these to provide baseline information for a microsatellite and mitochondrial analysis of the process of Africanization of the bees of the Yucatan Peninsula, Mexico. The genetic structure of the Yucatecan population has changed dramatically over time. The pre-Africanized Yucatecan population (1985) comprised bees that were most similar to samples from southeastern Europe and northern and western Europe. Three years after the arrival of Africanized bees (1989), substantial paternal gene flow had occurred from feral Africanized drones into the resident European population, but maternal gene flow from the invading Africanized population into the local population was negligible. However by 1998, there was a radical shift with both African nuclear alleles (65%) and African-derived mitochondria (61%) dominating the genomes of domestic colonies. We suggest that although European mitochondria may eventually be driven to extinction in the feral population, stable introgression of European nuclear alleles has occurred. [source] A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjectsEXPERIMENTAL DERMATOLOGY, Issue 2 2009Gerasimos Dimisianos Abstract:, The SLC24A5 gene, the human orthologue of the zebrafish golden gene, has been shown to play a key role in human pigmentation. In this study, we investigate the prevalence of the variant allele rs1426654 in a selected sample of Greek subjects. Allele-specific polymerase chain reaction was performed in peripheral blood samples from 158 attendants of a dermatology outpatient service. The results were correlated with pigmentary traits and MC1R genotype. The vast majority of subjects (99%) were homozygous for the Thr111 allele. Only two subjects from the control group (1.26%) were heterozygous for the alanine and threonine allele. Both of these Thr111/Ala111 heterozygotes carried a single polymorphism of MC1R (one with the V92M variant and another with the V60L variant). Following reports of the rs1426654 polymorphism reaching fixation in the European population, our study of Greek subjects showed a prevalence of the Thr111 allele, even among subjects with darker skin pigmentation or phototype. [source] Vocalizations and relationships of Brown Creepers Certhia americana: a taxonomic mysteryIBIS, Issue 3 2000LUIS F. BAPTISTA Two taxa of creepers (Certhia spp.) occur in Europe, C. familiaris and its sibling species C. brachydactyla. The North American Brown Creeper was considered a close relative of C. brachydactyla by one author, a close relative of or conspecific with C familiaris by others, and more recently as a distinct species, C. americana, by the American Ornithologists' Union. Songs of these three creepers are comprised mostly of social calls which are derived from begging calls. Sequence of syllables (syntax) is very conservative in songs of European population of C. familiaris and C. brachydactyla. In contrast, syntax in songs of western North American C. americana is highly variable; however, syllable morphology and syntax in some populations or individuals within populations is remarkably similar to songs of C. brachydactyla, notably from France and Spain. Two social calls and sleeping behaviour of C. americana are also similar to those of C. brachydactyla. Either C. americana and C. brachydactyla are close relatives or they have characters retained from the ancestor common to all three species whereas those in extant C familiaris have diverged. [source] Contribution of TNFSF15 gene variants to Crohn's disease susceptibility confirmed in UK populationINFLAMMATORY BOWEL DISEASES, Issue 6 2008Mark Tremelling MRCP Abstract Background: Identification of Crohn's disease (CD)-associated genetic variants is key to understanding pathogenic pathways underlying disease susceptibility. Recent reports of an association between TNFSF15 variants and CD have been modestly replicated in European populations, suggesting heterogeneity at this locus with stronger CD association in Japanese than European populations. Methods: We investigated the association between variants in TNFSF15 and CD in 756 CD patients and 636 controls. Disease subphenotype associations were also investigated. Results:TNFSF15 single nucleotide polymorphism (SNP) variants were associated with CD in our panel with peak odds ratio (OR) 1.2 (95% confidence interval [CI] 1.01,1.41) P = 0.033. The presence of a risk haplotype was replicated for the first time in a European population (frequency 67% in cases and 61% in controls) OR = 1.44 (95% CI 1.23,1.68) P = 0.00012. This result mirrors the UK panel in the index study (Yamazaki et al [2005] Hum Mol Genet 14:3499,3506) but is less significant than that reported in Japanese populations. There was no evidence of association with any individual CD subphenotype. Conclusions: Variants in TNFSF15 contribute to overall CD susceptibility in European populations, although to a lesser extent than that seen in the Japanese. Further studies to define the precise disease-causing variants as well as targeted functional studies are now required in human CD as TNFSF15 is a potential target for biological therapies. (Inflamm Bowel Dis 2008) [source] DRB1 alleles in polymyalgia rheumatica and rheumatoid arthritis in southern FranceINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 1 2001D. Reviron To investigate the association of HLA-DRB1 alleles with polymyalgia rheumatica (PMR) and rheumatoid arthritis (RA), 55 patients with PMR without giant cell arteritis, 203 patients with RA and 230 controls, all from the European population of Marseille, were HLA-DRB1 genotyped by PCR-SSO. HLA-DRB1*01 was significantly increased in both the PMR and RA groups compared to controls (35% versus 17%, Pc < 0.05, and 41% versus 17%, Pc < 0.001, respectively). HLA-DRB1*04 was significantly increased in the RA group compared to controls (48% versus 23%, Pc < 0.001) but not in the PMR group. HLA-DRB1*04 subtype frequencies were significantly different between PMR patients and RA patients. Shared epitope-positive HLA-DRB1*04 alleles (DRB1*0401, 0404, 0405, 0408) were significantly overrepresented in RA patients compared to PMR patients and shared epitope-negative HLA-DRB1*04 alleles were overrepresented in PMR patients compared to RA patients. In conclusion, in the Mediterranean population studied, HLA-DRB1*01 is associated with RA and PMR whereas HLA-DRB1*04 is associated with RA only. [source] Effects of photoperiod and temperature on the development and diapause of the bark beetle Ips typographusJOURNAL OF APPLIED ENTOMOLOGY, Issue 3 2007P. Dole Abstract:, Diapause was induced in a Central European population of Ips typographus grown at 20°C when the day length decreased below 16 h [50% diapause incidence occurred in the 14.7:9.3 h L:D (light:dark) regime]. The non-diapausing adults fed on days 2,6 and 10,14 after the ecdysis and swarmed after the second feeding bout with chorionated eggs in the ovaries and sperm in the spermiducts. Neither gonads nor the flight muscles matured and no swarming occurred in the diapausing adults. The development from egg to adult took about 34 days in both 18:6 h (no diapause) and 12:12 h L:D (diapause) regimes, but it was extended by up to 30% without diapause induction when only larvae or pupae were exposed to L:D 12:12 h. Diapause was induced in insects reared at L:D 12:12 h through the last larval and the pupal instars and/or in the adult stage. Temperature , 23°C prevented diapause induction at L:D 12:12 h but diapause occurred at L:D 14:10 h associated with 26:6°C thermoperiod. The effect of thermoperiods on the developmental rate requires further research. Exposure of the non-diapausing adults to 5°C for several days blocked feeding and evoked a diapause-like state, whereas diapausing adults fed and their gonads slowly developed at this temperature. Diapausing adults exposed in forest to low night temperatures and transferred in October to 20°C readily reproduced at 18:6, but not 12:12 h L:D photoperiods. After 2-months at 5°C and darkness, they became insensitive to the photoperiod, matured and most of them also swarmed at 20°C in the 12:12 h L:D regime. In a Scandinavian population, diapause occurred at 18:6 h L:D and was terminated either by exposure to 5°C or by very long photoperiod (L:D 20:4 h) combined with high temperature (23°C). [source] Interference between male-targeted and female-targeted lures of the Mediterranean fruit fly Ceratitis capitata (Dipt., Tephritidae) in ItalyJOURNAL OF APPLIED ENTOMOLOGY, Issue 1 2004M. Tóth Abstract: The efficacy of male-targeted and female-targeted baits was compared when lures were presented together or singly in traps for capturing the Mediterranean fruit fly, Ceratitis capitata (Wiedemann). For male-targeted baits, either trimedlure or ceralure presented singly attracted large numbers of flies, supporting data from many previous reports. The present results are the first published data on the attractiveness of ceralure to a European population of C. capitata. The quaternary female bait consisting of ammonium carbonate, putrescine, trimethylamine and acetic acid was a potent attractant for female flies (and also showed some activity for males). Replacing acetic acid with ammonium acetate in the quaternary female bait did not influence activity. Traps with female-targeted and male-targeted baits together always showed a tendency of catching fewer flies than traps with only one type of bait. The decrease was significant in females, regardless of whether ceralure or trimedlure was the male-targeted bait. In males, the tendency was the same for traps with trimedlure or ceralure alone, catching higher numbers than those with both male and female baits. Our present results suggest that both types of baits mutually decrease the numbers of the non-target sex in the trap. In conclusion, it is advisable to use both male- and female-targeted baits in separate and distant traps and not jointly in the same trap, lest the efficacy of detection or monitoring trials be compromised. [source] Bone mineralization defects and vitamin D deficiency: Histomorphometric analysis of iliac crest bone biopsies and circulating 25-hydroxyvitamin D in 675,patientsJOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2010Matthias Priemel Abstract Parathyroid hormone (PTH) is only one measurable index of skeletal health, and we reasoned that a histomorphometric analysis of iliac crest biopsies would be another and even more direct approach to assess bone health and address the required minimum 25-Hydroxyvitamin D [25(OH)D] level. A cohort from the northern European population with its known high prevalence of vitamin D deficiency therefore would be ideal to answer the latter question. We examined 675 iliac crest biopsies from male and female individuals, excluding all patients who showed any signs of secondary bone diseases at autopsy. Structural histomorphometric parameters, including osteoid indices, were quantified using the Osteomeasure System according to ASBMR standards, and serum 25(OH)D levels were measured for all patients. Statistical analysis was performed by Student's t test. The histologic results demonstrate an unexpected high prevalence of mineralization defects, that is, a pathologic increase in osteoid. Indeed, 36.15% of the analyzed patients presented with an osteoid surface per bone surface (OS/BS) of more than 20%. Based on the most conservative threshold that defines osteomalacia at the histomorphometric level with a pathologic increase in osteoid volume per bone volume (OV/BV) greater than 2% manifest mineralization defects were present in 25.63% of the patients. The latter were found independent of bone volume per trabecular volume (BV/TV) throughout all ages and affected both sexes equally. While we could not establish a minimum 25(OH)D level that was inevitably associated with mineralization defects, we did not find pathologic accumulation of osteoid in any patient with circulating 25(OH)D above 75,nmol/L. Our data demonstrate that pathologic mineralization defects of bone occur in patients with a serum 25(OH)D below 75,nmol/L and strongly argue that in conjunction with a sufficient calcium intake, the dose of vitamin D supplementation should ensure that circulating levels of 25(OH)D reach this minimum threshold (75,nmol/L or 30,ng/mL) to maintain skeletal health. © 2010 American Society for Bone and Mineral Research [source] How patients experience psoriasis: results from a European surveyJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 2005S Fouéré ABSTRACT Background, Most of the psoriasis that affects the European population is treated with topical preparations. Compliance rates, however, are known to be quite low. Objective, To provide an update on how psoriasis is experienced by patients and how well these patients comply with prescribed topical treatment. Methods, This was an observational and transversal survey conducted in 1281 patients with psoriasis. Patient input alone formed the basis of the study. Participants were contacted through the national psoriasis patient associations in France, the United Kingdom, Belgium, Germany and the Netherlands. Results, The study showed that 32% of the patients suffer currently from psoriasis in the face, skin folds and genital areas , areas very sensitive to topical treatments. Most of the patients (74%) considered their psoriasis as at least moderately severe, and 73% stated not to comply with their current treatment. Lack of efficacy and messiness of the treatment were the main reasons for non-compliance, an element that is especially important for the use in sensitive areas such as the face, skin folds and genitalia. Conclusion, The present survey confirmed that cosmetic acceptability is, together with efficacy and safety, a very important aspect of a successful treatment of psoriasis. [source] High intercontinental migration rates and population admixture in the sapstain fungus Ophiostoma ipsMOLECULAR ECOLOGY, Issue 1 2007XUDONG ZHOU Abstract Ophiostoma ips is a common fungal associate of various conifer-infesting bark beetles in their native ranges and has been introduced into non-native pine plantations in the Southern Hemisphere. In this study, we used 10 microsatellite markers to investigate the population biology of O. ips in native (Cuba, France, Morocco and USA) and non-native (Australia, Chile and South Africa) areas to characterize host specificity, reproductive behaviour, and the potential origin as well as patterns of spread of the fungus and its insect vectors. The markers resolved a total of 41 alleles and 75 haplotypes. Higher genetic diversity was found in the native populations than in the introduced populations. Based on the origin of the insect vectors, the populations of O. ips in Australia would be expected to reflect a North American origin, and those in Chile and South Africa to reflect a European origin. However, most alleles observed in the native European population were also found in the native North American population; only the allele frequencies among the populations varied. This admixture made it impossible to confirm the origin of the introduced Southern Hemisphere (SH) populations of O. ips. There was also no evidence for specificity of the fungus to particular bark beetle vectors or hosts. Although O. ips is thought to be mainly self-fertilizing, evidence for recombination was found in the four native populations surveyed. The higher genetic diversity in the North American than in the European population suggests that North America could be the possible source region of O. ips. [source] The ruddy duck Oxyura jamaicensis in Europe: natural colonization or human introduction?MOLECULAR ECOLOGY, Issue 6 2006VIOLETA MUÑOZ-FUENTES Abstract Native to North America, ruddy ducks Oxyura jamaicensis now occur in 21 countries in the western Palaearctic (including Iceland) and their expanding population threatens the native white-headed duck, Oxyura leucocephala, through hybridization and possibly competition for food and nest sites. We used mitochondrial DNA sequences and nuclear microsatellites to test whether the European ruddy duck population is descended solely from the captive population in the UK, which traces to seven individuals imported from the USA in 1948, or, alternatively, has been augmented by natural dispersal of birds from North America. Limited genetic diversity in the European population is consistent with a founder population as small as seven birds. In addition, shifts in allele frequencies at several loci, presumably due to genetic drift in the founding population, result in significant differentiation between the European and North American populations. Despite the recent separation of these populations, almost all individuals could be unambiguously assigned based on their composite genotypes, to one of two distinct populations, one comprising all of the European ruddy ducks we sampled (including those from Iceland and captive birds in the UK) and the other comprising all North American samples. Our results confirm that the European ruddy duck population is likely to derive solely from the captive population in the UK and we find no evidence of recent arrivals from North America or of admixture between ruddy ducks from Europe and North America. [source] Genetic variation in eastern North American and putatively introduced populations of Ceratocystis fimbriata f. plataniMOLECULAR ECOLOGY, Issue 10 2004C. J. B. ENGELBRECHT Abstract The plant pathogenic fungus Ceratocystis fimbriata f. platani attacks Platanus species (London plane, oriental plane and American sycamore) and has killed tens of thousands of plantation trees and street trees in the eastern United States, southern Europe and Modesto, California. Nuclear and mitochondrial DNA fingerprints and alleles of eight polymorphic microsatellite markers of isolates of C. fimbriata from these regions delineated major differences in gene diversities. The 33 isolates from the eastern United States had a moderate degree of gene diversity, and unique genotypes were found at each of seven collection sites. Fingerprints of 27 isolates from 21 collection sites in southern Europe were identical with each other; microsatellite markers were monomorphic within the European population, except that three isolates differed at one locus each, due perhaps to recent mutations. The genetic variability of C. fimbriata f. platani in the eastern United States suggests that the fungus is indigenous to this region. The genetic homogeneity of the fungus in Europe suggests that this population has gone through a recent genetic bottleneck, perhaps from the introduction of a single genotype. This supports the hypothesis that the pathogen was introduced to Europe through Naples, Italy during World War II on infected crating material from the eastern United States. The Californian population may also have resulted from introduction of one or a few related genotypes because it, too, had a single nuclear and mitochondrial genotype and limited variation in microsatellite alleles. [source] The Tayside Stroke Cohort: exploiting advanced regional medical informatics to create a region-wide database for studying the pharmacoepidemiology of stroke,PHARMACOEPIDEMIOLOGY AND DRUG SAFETY, Issue 7 2010Robert W. V. Flynn Abstract Purpose Observational studies can provide valuable information where data from randomised controlled trials is lacking. We aimed to generate a region-wide longitudinal register of stroke patients using record-linkage of existing clinical and research datasets. Methods The population were residents of Tayside, Scotland from 1994,2005. Stroke cases were identified from hospital inpatient admission records, death certificates and prescribing data. These were augmented with data derived from free-text CT-brain scan reports. Strokes were classified as intracerebral haemorrhage (ICH), subarachnoid haemorrhage (SAH) or ischaemic stroke (IS). The methodology was validated by audit of patient case-records. The incidence was calculated using direct standardisation to the standard European population for ages 45,84. Twenty-eight day case-fatality rates were calculated as percentages. Results There were 12,620 all-cause incident strokes (ICH 1057; SAH 511; IS 6257; undetermined 4795). Standardised incidences per 100,000 by subtypes of stroke were: ICH 35 (95%CI 33,38), SAH 19 (17,22) and IS 210 (205,217). The 28-day case-fatality rates were: ICH 49% (95%CI 46,52), SAH 38% (34,43) and IS 19% (18,20). Comparisons with previous studies were favourable for ICH and SAH. For IS the incidence was lower and fatality rate higher than elsewhere. Three hundred and three sets of patient case records were audited. The positive predictive value (PPV) for identifying cases of stroke was 94.7% (95%CI 91.6,96.7). Conclusions The case ascertainment in the TSC compares favourably to established stroke cohorts. This cost effective resource can now be linked with multiple other clinical and research datasets in Tayside to further understanding of stroke and its treatment. Copyright © 2010 John Wiley & Sons, Ltd. [source] Trends during a half century in relative squamous cell carcinoma distribution by body site in the Swedish population: Support for accumulated sun exposure as the main risk factorTHE JOURNAL OF DERMATOLOGY, Issue 2 2008Henrik DAL ABSTRACT There is a strong relationship between squamous cell carcinoma (SCC) and exposure to ultraviolet radiation in terms of accumulated exposure. In this study, data from the Swedish Cancer Registry are surveyed to discern a reflection of behavioral and societal changes in relative distribution of SCC by body site. Data for the time period 1960,2004, including a total of 66 221 cases (56 669 people) were analyzed by body site for age and gender cohorts. The age-standardized (European population) incidence per 100 000 of SCC in the year 2004 was 30.4 in males and 15.4 in females. In the year 1960, the corresponding incidences were 7.7 and 3.8; that is, SCC has become four times more frequent in Sweden for both sexes during this period. The standardized incidence of SCC increased on all body sites except eyelids (men and women) and ears (women). Head tumors dominated among patients aged 70 years or more and diagnosed 1960,1964. Among patients less than 70 years old at diagnosis in 2000,2004, tumors of the trunk and limbs dominated. A relative increase of tumors of the scalp and neck was observed in all age groups (men), and of tumors of the trunk and upper limbs in all age groups and both sexes except among patients aged more than 90 years of age. In contrast, a relative decrease of tumors on the face (including the ears) was seen in all age groups. The relative increase of SCC of the trunk and upper limbs is a plausible reflection of intentional tanning. [source] North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat ExpansionANNALS OF HUMAN GENETICS, Issue 3 2010Inder Singh Summary Friedreich's ataxia (FRDA) is caused by expansion of GAA repeats in the frataxin (FXN) gene on chromosome 9q13-q21.1. We analysed the origin of FRDA in 21 North Indian (NI) and eight South Indian (SI) families using five single nucleotide polymorphisms (SNPs) and a microsatellite marker spanning the GAA repeats. The NI and SI families were derived from Indo-European and Dravidian linguistic backgrounds respectively. The frequency of large normal (LNs) alleles of the GAA repeat correlate with the overall lower prevalence of FRDA in India compared to the European population. All of the expanded alleles in the Indian population share a common core haplotype suggesting a founder effect. The expanded alleles in the NI population demonstrate more similarity to those of Europeans in terms of age of GAA repeat expansion (15975 ± 2850 years) and association of LNs with expanded alleles. FRDA seems to have been introduced recently in the South Indian population since the average estimated age of the mutation in SI is 5425 ± 1750 years and unlike NI some of the haplotypes of LNs are not associated with the expanded alleles. [source] Population-Specific Susceptibility to Crohn's Disease and Ulcerative Colitis; Dominant and Recessive Relative Risks in the Japanese PopulationANNALS OF HUMAN GENETICS, Issue 2 2010Shigeki Nakagome Summary Crohn's disease (CD), a type of chronic inflammatory bowel disease (IBD), is commonly found in European and East Asian countries. The calculated heritability of CD appears to be higher than that of ulcerative colitis (UC), another type of IBD. Recent genome-wide association studies (GWAS) have identified more than thirty CD-associated genes/regions in the European population. In the East Asian population, however, a clear association between CD and an associated gene has only been detected with TNFSF15. In order to determine if CD susceptibility differs geographically, nine SNPs from seven of the European CD-associated genomic regions were selected for analysis. The genotype frequencies for these SNPs were compared among the 380 collected Japanese samples, which consisted of 212 IBD cases and 168 controls. We detected a significant association of both CD and UC with only the TNFSF15 gene. Analysis by the modified genotype relative risk test (mGRR) indicated that the risk allele of TNFSF15 is dominant for CD, but is recessive for UC. These results suggest that CD and UC susceptibility differs between the Japanese and European populations. Furthermore, it is also likely that CD and UC share a causative factor which exhibits a different dominant/recessive relative risk in the Japanese population. [source] Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet UniversityANNALS OF HUMAN GENETICS, Issue 1 2010Susan H. Blanton Summary The genetic fitness of an individual is influenced by their phenotype, genotype and family and social structure of the population in which they live. It is likely that the fitness of deaf individuals was quite low in the Western European population during the Middle Ages. The establishment of residential schools for deaf individuals nearly 400 years ago resulted in relaxed genetic selection against deaf individuals which contributed to the improved fitness of deaf individuals in recent times. As part of a study of deaf probands from Gallaudet University, we collected pedigree data, including the mating type and the number and hearing status of the children of 686 deaf adults and 602 of their hearing siblings. Most of these individuals had an onset of severe to profound hearing loss by early childhood. Marital rates of deaf adults were similar to their hearing siblings (0.83 vs. 0.85). Among married individuals, the fertility of deaf individuals is lower than their hearing siblings (2.06 vs. 2.26, p = 0.005). The fitness of deaf individuals was reduced (p = 0.002). Analysis of fertility rates after stratification by mating type reveals that matings between two deaf individuals produced more children (2.11) than matings of a deaf and hearing individual (1.85), suggesting that fertility among deaf individuals is influenced by multiple factors. [source] Detection of Rare Nonsynonymous Variants in TGFB1 in Otosclerosis PatientsANNALS OF HUMAN GENETICS, Issue 2 2009M. Thys Summary Otosclerosis is one of the most common forms of hearing loss in the European population. We have identified a SNP in the TGFB1 (transforming growth factor beta 1) gene that is associated with susceptibility to otosclerosis. The protective allele of this variant, with isoleucine at position 263 of the protein, is more biologically active than the risk allele, which has a threonine in this position. Because recent studies have shown that not only common, but also rare variants can be involved in complex diseases, we performed DNA sequence analysis of the exons and intron-exon boundaries of TGFB1 in 755 otosclerosis patients and 877 control samples. We found 3 different nonsynonymous variants (E29, A29 and I241) in four otosclerosis patients, but no such changes were found in controls. In silico analysis shows that these variations could influence TGF-,1 function and activity. Taking into account that most rare missense alleles are thought to have a biological effect, the data suggest that multiple rare amino acid changing variants in TGF-,1 may contribute to susceptibility to otosclerosis. [source] A Comparison of the Variability Spectra of Two Genomic Loci in a European Group of Individuals Reveals Fundamental Differences Pointing to Selection or a Population BottleneckANNALS OF HUMAN GENETICS, Issue 3 2007C. Schmegner Summary Knowledge about the variability spectra of neutrally evolving sequences in a population is a prerequisite for the identification of genes, which may have been under positive selection during recent human evolution. Here, we report the results of a re-sequencing project of a presumably neutrally evolving chromosome 22 locus with a severely reduced recombination frequency in a group of 24 individuals of German origin. The comparison of these data with the results of a similar analysis of a chromosome 17 locus revealed striking differences, although the same group of individuals was used. For the chromosome 17 locus two well-separated groups of sequences, a positive value of Tajima's D and a TMRCA of 700 000 years were observed. In contrast, the sequences from the chromosome 22 locus were found to be relatively homogeneous, with no deep splits between subgroups; the obtained value for Tajima's D was negative and the TMRCA was only 260 000 years. These discrepancies may be explained by selection or demographic processes. Regarding demography, the most plausible explanation is the assumption of a severe bottleneck in the history of the European population: in the case of the chromosome 17 locus two ancient lineages passed this bottleneck; for the chromosome 22 locus it was only one ancient lineage. [source] Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohortARTHRITIS & RHEUMATISM, Issue 11 2006Stephen Eyre Objective A recent study of rheumatoid arthritis (RA) showed an association with a functional single-nucleotide polymorphism (SNP) mapping to the promoter region of the MHC2TA gene on chromosome 16p13 in a Swedish population. Interestingly, evidence for linkage to this region has been detected previously in a subgroup of UK RA families carrying 2 copies of shared epitope (SE) alleles. Therefore, we undertook this study to investigate the association of the MHC2TA gene promoter with RA in a UK Caucasian population. Methods Association with 5 SNPs spanning the promoter region of the MHC2TA gene was investigated in 813 UK RA patients and 532 population controls. Association with a functional putative RA-causal polymorphism (,168*G/A [rs3087456]) was tested in a total of 1,401 UK RA patients and 2,475 controls. Genotyping was performed using a Sequenom MassArray platform. Estimated haplotype frequencies were generated using the expectation-maximization algorithm and compared between patients and controls. Results All SNPs were in Hardy-Weinberg equilibrium. No evidence for association was found, either with the putative RA-causal polymorphism (,168*G/A) or with the other SNPs tested. Haplotype analysis revealed extensive linkage disequilibrium across the promoter region but no evidence for association. Stratifying the data set by carriage of SE alleles did not alter the conclusions. Conclusion A functional polymorphism of the MHC2TA gene locus previously associated with RA in a European population has not been associated with RA in a UK population. These findings do not provide support for the notion that this gene plays a major role in the etiology of RA. [source] Incidence of severe pre-eclampsia, postpartum haemorrhage and sepsis as a surrogate marker for severe maternal morbidity in a European population-based study: the MOMS-B surveyBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 1 2005Wei-Hong Zhang Objective To describe the incidence of three conditions of acute severe maternal morbidity in selected regions in nine European countries. Design A population-based questionnaire survey. Setting Eleven regions in nine countries of Europe. Population All the pregnant women in each region who had delivered during the period covered by the study. Methods Standard definitions of three severe obstetric conditions, pre-eclampsia, postpartum haemorrhage and sepsis were established by a steering committee. A common questionnaire was used in each participating country. The incidence of the three obstetric conditions and characteristics of the study women were compared. Main outcome measures Incidence of three severe obstetric conditions: pre-eclampsia, postpartum haemorrhage and sepsis. Results The study identified 1734 women with at least one of the three conditions, with 847 experiencing severe haemorrhage, 793 experiencing severe pre-eclampsia and 142 experiencing severe sepsis. There were wide variations in incidence of three conditions combined, ranging from 14.7 per thousand deliveries in Brussels, Belgium to 6.0 per thousand deliveries in Upper Austria. Conclusions This study sets a simple and straightforward approach to the definition of three severe obstetric conditions and allows population-based comparisons between developed countries in Europe, even though difficulties may have been present with applying the definition across countries. The reported incidence of these severe obstetric conditions in general and severe haemorrhage varied significantly between countries. Overall, severe haemorrhage in particular was the most common of the three conditions, followed closely by severe pre-eclampsia. [source] Sensitive skin is not limited to the faceBRITISH JOURNAL OF DERMATOLOGY, Issue 1 2008C. Saint-Martory Summary Background, Sensitive skin (or reactive or hyper-reactive skin) is defined as skin that reacts by erythema and/or subjective symptoms (pricking, burning, pain, pruritus etc.) to stimuli that are not pathogens in themselves (e.g. wind, heat, cold, water, cosmetics, stress). This phenomenon is very frequent, occurring in about 50% of the European population. Objectives, Sensitive skin is always reported on the face. The aim of our study was to determine if it can occur in other localizations. Methods, We have performed this study in two centres. One was a department of dermatology in a university hospital while the other one was a centre for cosmetological studies. A questionnaire was given to women aged > 15 years. The questions were: Do you have sensitive skin? If yes, in which localization? What are the symptoms and triggering factors? Results, Four hundred subjects were included in the study (200 in each centre). The two populations were similar in terms of age, sex, and most of the results. The mean age was 40 years. Eighty-five per cent of the 400 subjects declared that they had sensitive skin on the face, and 70% had sensitive skin in another area: hands (58%), scalp (36%), feet (34%), neck (27%), torso (23%) or back (21%). Triggering factors included cold (66%), heat (28%), stress (61%), sun exposure (51%), wind (42%), water from a shower (29%) or a swimming pool (40%), soaps (42%), cosmetics (28%) and pollution (18%). Friction from clothes was reported in 28% of cases. Sensitive skin was observed as redness in most cases along with various subjective symptoms. Conclusions, The proportion of subjects presenting with sensitive skin is probably overestimated. However, the main result of this study is that sensitive skin is not restricted to the face but rather it is also present at other localizations, mainly the hands, and often the scalp and feet. [source] Prevalence of epilepsy in Croatia: a population-based surveyACTA NEUROLOGICA SCANDINAVICA, Issue 6 2007I. Bielen Objectives,,, To investigate the prevalence of active epilepsy in Croatia. Material and methods,,, Patient data collected by means of questionnaires completed by primary healthcare physicians; epilepsy was previously confirmed in the patients by neurologists or neuropaediatricans. Results,,, One hundred and twenty-seven of 180 (71%) physicians provided the requested information. The total sample was 212 069 people and of these 1022 had active epilepsy. Prevalence rates (per 1000) for the following age-groups were: age 0,7: 3.5; age 8,18: 6.4; age 19,45: 5.0; age 46,65: 4.7; age >65: 4.4. The age-adjusted prevalence rates for the standard populations were 4.9/1000 (European population) and 5.0/1000 (WHO world population). Fifty-one physicians (29%) stated only the number of patients they considered as having active epilepsy but without the requested details. If their patients were also included, the estimated crude prevalence rate would be 5.5/1000. Conclusions,,, It is likely that the prevalence of active epilepsy in Croatia is between 4.8 and 5.5/1000; this is in keeping with findings from other European countries. [source] The impact of ageing on stroke subtypes, length of stay and mortality: study in the province of Teruel, SpainACTA NEUROLOGICA SCANDINAVICA, Issue 6 2003P. J. Modrego Background and purpose , During the last three decades, there have been important advances in the diagnosis and treatment of stroke leading to a decline in mortality rates in western countries. However, the longer life expectancy and the higher proportion of elderly people in the structure of the population may partially counteract this positive trend in stroke-related mortality. The purpose of this study was to analyse the impact of a high ageing index of the population on stroke-related variables such as stroke subtypes, length of hospital stay and mortality from stroke. Methods , We analysed the data of 1850 consecutive patients with first-ever stroke retrieved from a prospective registry over a period of 8 years (1994,2001) in the province of Teruel, Spain, with two public hospitals in the catchment area. The mean age was 75.5 years (SD: 9.4) and the sex was male in 62% of cases. The variables included in the study were vascular risk factors, stroke subtypes, fatality rate, length of stay and mortality. Mortality was assessed from 1990 to 2000. Results , Arterial hypertension and atrial fibrillation were the most frequent risk factors, with an observed high frequency of cardioembolic stroke. The mean 28-day case fatality rate was 16.6%, ranging from 11.9% in 1994 to 23.4% in 1999. We found complications in 38% of patients, especially in the elderly. Fatality occurred in 20.3% of elderly subjects (65 or over) in comparison to 7.25% for those younger (Relative risk: 2.8; 95% CI: 1.47,5.3). Crude mortality rates were higher than for the general population in Spain and ranged from 169 in 1991 to 139/100,000 in 2000 with higher rates for women. However, the age-adjusted mortality rate to the standard European population was 56.6/100,000 (95% CI: 46,64) in 1999, which was similar to that found in Spain (61/100,000). Conclusions , The impact of ageing on case fatality and mortality by stroke was substantial. Whereas mortality by stroke stabilized after decreasing in our province and in Spain in the last decade, fatality rates have significantly increased in our province because of the high proportion of elderly people and to the high rate of post-stroke complications. [source] Understanding the Causes of Disease in European Freshwater CrayfishCONSERVATION BIOLOGY, Issue 6 2004BRETT F. EDGERTON Aphanomyces astaci; bioseguridad; epizootia; langostinos de agua dulce; patología de langostinos; peste de langostinos Abstract:,Native European freshwater crayfish (Astacida, Decapoda) are under severe pressure from habitat alteration, the introduction of nonindigenous species, and epizootic disease. Crayfish plague, an acute disease of freshwater crayfish caused by the fungus-like agent Aphanomyces astaci, was introduced into Europe in the mid-nineteenth century and is responsible for ongoing widespread epizootic mortality in native European populations. We reviewed recent developments and current practices in the field of crayfish pathology. The severity of crayfish plague has resulted in an overemphasis on it. Diagnostic methods for detecting fungi and fungal-like agents, and sometimes culturing them, are frequently the sole techniques used to investigate disease outbreaks in European freshwater crayfish. Consequently, the causes of a significant proportion of outbreaks are undetermined. Pathogen groups well known for causing disease in other crustaceans, such as viruses and rickettsia-like organisms, are poorly understood or unknown in European freshwater crayfish. Moreover, the pathogenic significance of some long-known pathogens of European freshwater crayfish remains obscure. For effective management of this culturally significant and threatened resource, there is an urgent need for researchers, diagnosticians, and resource managers to address the issue of disease in European freshwater crayfish from a broader perspective than has been applied previously. Resumen:,Los langostinos nativos de Europa (Astacida, Decapada) están bajo severa presión por alteración del hábitat, la introducción de especies no nativas y una enfermedad epizoótica. La peste de langostinos, una enfermedad aguda de langostinos de agua dulce producida por el agente micoide Aphanomyces astaci, fue introducida a Europa a mediados del siglo diecinueve y es responsable de la actual mortalidad epizoótica de poblaciones Europeas nativas. Revisamos acontecimientos recientes y prácticas actuales en el campo de la patología de langostinos. La severidad de la peste de langostinos ha resultado en un excesivo énfasis en ella. Los métodos para diagnosticar, y algunas veces cultivar, hongos y agentes micoides frecuentemente son la única técnica empleada al investigar brotes de la enfermedad en langostinos de agua dulce en Europa. Consecuentemente, no están determinadas las causas de una proporción significativa de los brotes. Grupos patógenos, como virus y organismos similares a rickettsias, bien conocidos por producir enfermedades en otros crustáceos son poco o nada conocidos en langostinos de agua dulce de Europa. Más aún, el significado patogénico de algunos patógenos de langostinos de agua dulce de Europa largamente conocidos es oscuro. Para el manejo efectivo de este recurso culturalmente significativo y amenazado es urgente la necesidad de investigadores, diagnosticadores y gestores de recursos para atender el asunto de la enfermedad en langostinos de agua dulce europeos desde una perspectiva más amplia que la previamente aplicada. [source] Prevalence of the metabolic syndrome in the island of Gran Canaria: comparison of three major diagnostic proposalsDIABETIC MEDICINE, Issue 12 2005M. Boronat Abstract Aims The present study was conducted to estimate the prevalence of the metabolic syndrome in a Canarian population, and to compare its frequency as defined by the most commonly used working definitions. Methods Cross-sectional population-based study. One thousand and thirty adult subjects were randomly selected from the local census of Telde, a city located on the island of Gran Canaria. Participants completed a survey questionnaire and underwent physical examination, fasting blood analyses, and a 75-g standardized oral glucose tolerance test. The prevalence of the metabolic syndrome was estimated according to the definitions proposed by the World Health Organization (WHO), the European Group for the Study of Insulin Resistance (EGIR) and the National Cholesterol Education Program (NCEP), the latter with the original (6.1 mmol/l) and the revised criterion (5.6 mmol/l) for abnormal fasting glucose. Results The adjusted prevalence of the metabolic syndrome was 28.0, 15.9, 23.0 and 28.2%, using the WHO, EGIR, NCEP and revised NCEP criteria, respectively. The measure of agreement (, statistic) was 0.57 between the WHO and the original NCEP definitions, and 0.61 between the WHO and the revised NCEP definitions. After excluding diabetic subjects, the agreement between the EGIR and WHO proposals was fairly good (, = 0.70), whereas concordance of the EGIR with the original and the revised NCEP definitions was moderate (, = 0.47 and 0.46, respectively). Conclusions Whichever the considered diagnostic criteria, the prevalence of the metabolic syndrome in this area of the Canary Islands is greater than that observed in most other European populations. [source] | |||||||||||||||||||||||||||||||||||||||||||