433 research outputs found
Structured education can improve primary-care management of headache: the first empirical evidence, from a controlled interventional study
Headache disorders are under-recognized and under-diagnosed. A principal factor in their suboptimal management is lack of headache-related training among health-care providers, especially in primary care. In Estonia, general practitioners (GPs) refer many headache patients to neurological specialist services, mostly unnecessarily. GPs request diagnostic investigations, which are usually unhelpful and therefore wasteful. GP-made headache diagnoses are often arcane and non-specific, and treatments based on these are inappropriate. The aim of this study was to develop, implement and test an educational model intended to improve headache-related primary health care in Estonia.This was a controlled study consisting of baseline observation, intervention and follow-up observation using the same measures of effect. It involved six GPs in Põlva and the surrounding region in Southern Estonia, together with their future patients presenting consecutively with headache as their main complaint, all with their consent. The primary outcome measure was referral rate (RR) to neurological specialist services. Secondary measures included number of GP-requested investigations, GP-made headache diagnoses and how these conformed to standard terminology (ICD-10), and GP-recommended or initiated treatments.RR at baseline (n = 490) was 39.5 %, falling to 34.7 % in the post-intervention group (n = 295) (overall reduction 4.8 %; p = 0.21). In the large subgroup of patients (88 %) for whom GPs made clearly headache-related ICD-10 diagnoses, RR fell by one fifth (from 40 to 32 %; p = 0.08), but the only diagnosis-related RR that showed a statistically significant reduction was (pericranial) myalgia (19 to 3 %; p = 0.03). There was a significant increase towards use of more specific diagnoses. Use of investigations in diagnosing headache reduced from 26 to 4 % (p < 0.0001). Initiation of treatment by GPs increased from 58 to 81 % (p < 0.0001).These were modest changes in GPs entrenched behaviour. Nevertheless they were empirical evidence that GPs practice in the field of headache could be improved by structured education. Furthermore, the changes were likely to be cost-saving. To our knowledge this study is the first to produce such evidence
Y-chromosome lineages from Portugal, Madeira and Açores record rlements of sephardim and berber ancestry
A total of 553 Y-chromosomes were analyzed from mainland Portugal and the North Atlantic Archipelagos of
Ac¸ores and Madeira, in order to characterize the genetic composition of their male gene pool. A large majority
(78–83% of each population) of the male lineages could be classified as belonging to three basic Y chromosomal
haplogroups, R1b, J, and E3b. While R1b, accounting for more than half of the lineages in any of the Portuguese subpopulations, is a characteristic marker of many different West European populations, haplogroups J and E3b consist
of lineages that are typical of the circum-Mediterranean region or even East Africa. The highly diverse haplogroup
E3b in Portuguese likely combines sub-clades of distinct origins. The present composition of the Y chromosomes
in Portugal in this haplogroup likely reflects a pre-Arab component shared with North African populations or
testifies, at least in part, to the influence of Sephardic Jews. In contrast to the marginally low sub-Saharan African
Y chromosome component in Portuguese, such lineages have been detected at a moderately high frequency in our
previous survey of mtDNA from the same samples, indicating the presence of sex-related gene flow, most likely
mediated by the Atlantic slave trade.info:eu-repo/semantics/publishedVersio
Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora
The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Levant, followed by complex demographic and migratory trajectories over the ensuing millennia which pose a serious challenge to unraveling population genetic patterns. Here we ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ancestries of the Diaspora. Accordingly, 1,142 samples from 14 different non-Ashkenazi Jewish communities were analyzed. A list of complete mtDNA sequences was established for all variants present at high frequency in the communities studied, along with high-resolution genotyping of all samples. Unlike the previously reported pattern observed among Ashkenazi Jews, the numerically major portion of the non-Ashkenazi Jews, currently estimated at 5 million people and comprised of the Moroccan, Iraqi, Iranian and Iberian Exile Jewish communities showed no evidence for a narrow founder effect, which did however characterize the smaller and more remote Belmonte, Indian and the two Caucasus communities. The Indian and Ethiopian Jewish sample sets suggested local female introgression, while mtDNAs in all other communities studied belong to a well-characterized West Eurasian pool of maternal lineages. Absence of sub-Saharan African mtDNA lineages among the North African Jewish communities suggests negligible or low level of admixture with females of the host populations among whom the African haplogroup (Hg) L0-L3 sub-clades variants are common. In contrast, the North African and Iberian Exile Jewish communities show influence of putative Iberian admixture as documented by mtDNA Hg HV0 variants. These findings highlight striking differences in the demographic history of the widespread Jewish Diaspora
Ancient Yersinia pestis genomes from across Western Europe reveal early diversification during the First Pandemic (541–750)
The first historically documented pandemic caused by Yersinia pestis began as the Justinianic Plague in 541 within the Roman Empire and continued as the so-called First Pandemic until 750. Although paleogenomic studies have previously identified the causative agent as Y. pestis, little is known about the bacterium’s spread, diversity, and genetic history over the course of the pandemic. To elucidate the microevolution of the bacterium during this time period, we screened human remains from 21 sites in Austria, Britain, Germany, France, and Spain for Y. pestis DNA and reconstructed eight genomes. We present a methodological approach assessing single-nucleotide polymorphisms (SNPs) in ancient bacterial genomes, facilitating qualitative analyses of low coverage genomes from a metagenomic background. Phylogenetic analysis on the eight reconstructed genomes reveals the existence of previously undocumented Y. pestis diversity during the sixth to eighth centuries, and provides evidence for the presence of multiple distinct Y. pestis strains in Europe. We offer genetic evidence for the presence of the Justinianic Plague in the British Isles, previously only hypothesized from ambiguous documentary accounts, as well as the parallel occurrence of multiple derived strains in central and southern France, Spain, and southern Germany. Four of the reported strains form a polytomy similar to others seen across the Y. pestis phylogeny, associated with the Second and Third Pandemics. We identified a deletion of a 45-kb genomic region in the most recent First Pandemic strains affecting two virulence factors, intriguingly overlapping with a deletion found in 17th- to 18th-century genomes of the Second Pandemic. © 2019 National Academy of Sciences. All rights reserved
An invasive Haemophilus influenzae serotype b infection in an Anglo-Saxon plague victim.
BACKGROUND: The human pathogen Haemophilus influenzae was the main cause of bacterial meningitis in children and a major cause of worldwide infant mortality before the introduction of a vaccine in the 1980s. Although the occurrence of serotype b (Hib), the most virulent type of H. influenzae, has since decreased, reports of infections with other serotypes and non-typeable strains are on the rise. While non-typeable strains have been studied in-depth, very little is known of the pathogen's evolutionary history, and no genomes dating prior to 1940 were available. RESULTS: We describe a Hib genome isolated from a 6-year-old Anglo-Saxon plague victim, from approximately 540 to 550 CE, Edix Hill, England, showing signs of invasive infection on its skeleton. We find that the genome clusters in phylogenetic division II with Hib strain NCTC8468, which also caused invasive disease. While the virulence profile of our genome was distinct, its genomic similarity to NCTC8468 points to mostly clonal evolution of the clade since the 6th century. We also reconstruct a partial Yersinia pestis genome, which is likely identical to a published first plague pandemic genome of Edix Hill. CONCLUSIONS: Our study presents the earliest genomic evidence for H. influenzae, points to the potential presence of larger genomic diversity in the phylogenetic division II serotype b clade in the past, and allows the first insights into the evolutionary history of this major human pathogen. The identification of both plague and Hib opens questions on the effect of plague in immunocompromised individuals already affected by infectious diseases
Validity of visceral adiposity estimates from DXA against MRI in Kuwaiti men and women
Objectives - The prevalence of obesity and diabetes in the Middle East is amongst the highest in the world. Valid measures of abdominal adiposity are essential to understanding the metabolic consequences of obesity. Dual-energy X-ray absorptiometry (DXA) is increasingly being utilised to assess body composition in population studies, and has recently been used to estimate visceral adipose tissue (VAT). The aim of this study was to determine the accuracy of DXA-derived VAT in a Middle Eastern population using magnetic resonance imaging (MRI) as the criterion measure.
VAT was estimated from abdominal DXA measures in 237 adult men (n=130) and women (n=107), aged 18-65 years, participating in the Kuwait Wellbeing Study. These estimates were compared to MRI measures of the corresponding anatomical region. The agreement between methods was assessed using Bland-Altman as well as correlation analysis.
Median MRI-VAT was 1148.5 (95% CI: 594.2-1734.6) cm in men and 711.3 (95% CI: 395.5-1042.8) cm in women. DXA estimates of VAT showed high correlations with corresponding MRI measures (r= 0.94 (p<0.0001) in men; r= 0.93 (p<0.0001) in women). DXA overestimated VAT with a mean bias (95% limits of agreement) of 79.7 (-767; 963) cm in men and 46.8 (-482; 866) cm in women. The imprecision of DXA increased with increasing VAT adiposity in both men and women.
DXA estimates of VAT are valid for use in Middle Eastern populations, although accuracy decreases with increasing level of obesity.This research was supported by funding from His Highness Shiekh Nasser Al-Mohammad Al-Sabah, the Dasman Diabetes Institute (RA-2010-001), and the Medical Research Council (MC_UU_12015/1 and MC_UU_12015/3)
Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians
Knowledge of high resolution Y-chromosome haplogroup diversification within Iran provides important geographic context regarding the spread and compartmentalization of male lineages in the Middle East and southwestern Asia. At present, the Iranian population is characterized by an extraordinary mix of different ethnic groups speaking a variety of Indo-Iranian, Semitic and Turkic languages. Despite these features, only few studies have investigated the multiethnic components of the Iranian gene pool. In this survey 938 Iranian male DNAs belonging to 15 ethnic groups from 14 Iranian provinces were analyzed for 84 Y-chromosome biallelic markers and 10 STRs. The results show an autochthonous but non-homogeneous ancient background mainly composed by J2a sub-clades with different external contributions. The phylogeography of the main haplogroups allowed identifying post-glacial and Neolithic expansions toward western Eurasia but also recent movements towards the Iranian region from western Eurasia (R1b-L23), Central Asia (Q-M25), Asia Minor (J2a-M92) and southern Mesopotamia (J1-Page08). In spite of the presence of important geographic barriers (Zagros and Alborz mountain ranges, and the Dasht-e Kavir and Dash-e Lut deserts) which may have limited gene flow, AMOVA analysis revealed that language, in addition to geography, has played an important role in shaping the nowadays Iranian gene pool. Overall, this study provides a portrait of the Y-chromosomal variation in Iran, useful for depicting a more comprehensive history of the peoples of this area as well as for reconstructing ancient migration routes. In addition, our results evidence the important role of the Iranian plateau as source and recipient of gene flow between culturally and genetically distinct population
Genetic history of Cambridgeshire before and after the Black Death.
The extent of the devastation of the Black Death pandemic (1346-1353) on European populations is known from documentary sources and its bacterial source illuminated by studies of ancient pathogen DNA. What has remained less understood is the effect of the pandemic on human mobility and genetic diversity at the local scale. Here, we report 275 ancient genomes, including 109 with coverage >0.1×, from later medieval and postmedieval Cambridgeshire of individuals buried before and after the Black Death. Consistent with the function of the institutions, we found a lack of close relatives among the friars and the inmates of the hospital in contrast to their abundance in general urban and rural parish communities. While we detect long-term shifts in local genetic ancestry in Cambridgeshire, we find no evidence of major changes in genetic ancestry nor higher differentiation of immune loci between cohorts living before and after the Black Death
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