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Find video protocols related to scientific articles indexed in Pubmed.
To meat or not to meat? New perspectives on Neanderthal ecology.
Am. J. Phys. Anthropol.
PUBLISHED: 11-20-2014
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Neanderthals have been commonly depicted as top predators who met their nutritional needs by focusing entirely on meat. This information mostly derives from faunal assemblage analyses and stable isotope studies: methods that tend to underestimate plant consumption and overestimate the intake of animal proteins. Several studies in fact demonstrate that there is a physiological limit to the amount of animal proteins that can be consumed: exceeding these values causes protein toxicity that can be particularly dangerous to pregnant women and newborns. Consequently, to avoid food poisoning from meat-based diets, Neanderthals must have incorporated alternative food sources in their daily diets, including plant materials as well. Yrbk Phys Anthropol, 2014. © 2014 Wiley Periodicals, Inc.
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High-dose versus low-dose oxytocin infusion regimens for induction of labour at term.
Cochrane Database Syst Rev
PUBLISHED: 10-11-2014
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When women require induction of labour, oxytocin is the most common agent used, delivered by an intravenous infusion titrated to uterine contraction strength and frequency. There is debate over the optimum dose regimen and how it impacts on maternal and fetal outcomes, particularly induction to birth interval, mode of birth, and rates of hyperstimulation. Current induction of labour regimens include both high- and low-dose regimens and are delivered by either continuous or pulsed infusions, with both linear and non-linear incremental increases in oxytocin dose. Whilst low-dose protocols bring on contractions safely, their potentially slow induction to birth interval may increase the chance of fetal infection and chorioamnionitis. Conversely, high-dose protocols may cause undue uterine hyperstimulation and fetal distress.
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Improving VBAC rates: the combined impact of two management strategies.
Aust N Z J Obstet Gynaecol
PUBLISHED: 07-30-2014
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Caesarean section rates in Australia have risen to >30%, with repeat caesarean delivery the most common indication. One method of reducing caesarean delivery rates is to increase rates of vaginal birth after caesarean section (VBAC).
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Development of Normal Gestational Ranges for the Right Myocardial Performance Index in the Australian Population with Three Alternative Caliper Placements.
Fetal. Diagn. Ther.
PUBLISHED: 03-18-2014
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Objectives: To construct gestational age-adjusted reference ranges for the right fetal modified myocardial performance index (RMPI) in an Australian population and to assess the influence of valve click caliper position on constituent time intervals and the RMPI. Methods: A prospective cross-sectional study of RMPI from 235 normal fetuses at 17-38 weeks of gestation was performed. Two Doppler waveforms were obtained: tricuspid and pulmonary valves for 'a' and 'b' readings, respectively. The ultrasound machine settings were: Doppler sweep velocity 15 cm/s, angle of insonation <15°, minimal gain, and wall motion filter 300 Hz. The 'a' and 'b' intervals were measured at three different caliper positions in each fetus: at the beginning of the original valve clicks ('original'), at the beginning of the reflected tricuspid and pulmonary closure clicks ('reflected') and at the peak of valve clicks ('peak'). RMPI was calculated as (a - b)/b. The three readings were obtained and averaged per examination, with intraobserver repeatability assessed by intraclass correlation coefficient (ICC) and 95% CI. Results: For 'original', 'reflected' and 'peak' RMPI, mean ± SD, ICC (95% CI) were: 0.53 ± 0.10, 0.86 (0.83-0.89); 0.48 ± 0.10, 0.84 (0.81-0.87) and 0.48 ± 0.10, 0.89 (0.87-0.91), respectively. The RMPI increased by approximately 15% as gestation increased and decreased slightly with increasing heart rate. Conclusion: This is the first publication of reference ranges for RMPI based on caliper position. All methods showed good ICC, including the 'peak' method which we have previously proposed for routine use based on its repeatability and ease of identification when measuring the myocardial performance index. © 2014 S. Karger AG, Basel.
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Gut microbiome of the Hadza hunter-gatherers.
Nat Commun
PUBLISHED: 03-14-2014
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Human gut microbiota directly influences health and provides an extra means of adaptive potential to different lifestyles. To explore variation in gut microbiota and to understand how these bacteria may have co-evolved with humans, here we investigate the phylogenetic diversity and metabolite production of the gut microbiota from a community of human hunter-gatherers, the Hadza of Tanzania. We show that the Hadza have higher levels of microbial richness and biodiversity than Italian urban controls. Further comparisons with two rural farming African groups illustrate other features unique to Hadza that can be linked to a foraging lifestyle. These include absence of Bifidobacterium and differences in microbial composition between the sexes that probably reflect sexual division of labour. Furthermore, enrichment in Prevotella, Treponema and unclassified Bacteroidetes, as well as a peculiar arrangement of Clostridiales taxa, may enhance the Hadza's ability to digest and extract valuable nutrition from fibrous plant foods.
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Plant foods and the dietary ecology of Neanderthals and early modern humans.
J. Hum. Evol.
PUBLISHED: 03-05-2014
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One of the most important challenges in anthropology is understanding the disappearance of Neanderthals. Previous research suggests that Neanderthals had a narrower diet than early modern humans, in part because they lacked various social and technological advances that lead to greater dietary variety, such as a sexual division of labor and the use of complex projectile weapons. The wider diet of early modern humans would have provided more calories and nutrients, increasing fertility, decreasing mortality and supporting large population sizes, allowing them to out-compete Neanderthals. However, this model for Neanderthal dietary behavior is based on analysis of animal remains, stable isotopes, and other methods that provide evidence only of animal food in the diet. This model does not take into account the potential role of plant food. Here we present results from the first broad comparison of plant foods in the diets of Neanderthals and early modern humans from several populations in Europe, the Near East, and Africa. Our data comes from the analysis of plant microremains (starch grains and phytoliths) in dental calculus and on stone tools. Our results suggest that both species consumed a similarly wide array of plant foods, including foods that are often considered low-ranked, like underground storage organs and grass seeds. Plants were consumed across the entire range of individuals and sites we examined, and none of the expected predictors of variation (species, geographic region, or associated stone tool technology) had a strong influence on the number of plant species consumed. Our data suggest that Neanderthal dietary ecology was more complex than previously thought. This implies that the relationship between Neanderthal technology, social behavior, and food acquisition strategies must be better explored.
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Evaluation of anti-Mullerian hormone in the first trimester as a predictor for hypertensive disorders of pregnancy and other adverse pregnancy outcomes.
Aust N Z J Obstet Gynaecol
PUBLISHED: 03-03-2014
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Prediction of pre-eclampsia and adverse pregnancy outcomes with biomarkers has been proposed. AMH is an ovary-specific growth factor, used to predict ovarian reserve, which changes with age similar to the change in age-related fertility.
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Recruitment difficulties in obstetric trials: A case study and review.
Aust N Z J Obstet Gynaecol
PUBLISHED: 01-27-2014
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The CONSORT statement calls for complete data on flow of participants, including all losses and exclusions. Incomplete reporting of flow into trials versus flow through trials is not uncommon. Where complete data exist in obstetric trials, poor recruitment seems a recurring theme.
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A randomised trial of ondansetron for the treatment of irritable bowel syndrome with diarrhoea.
Gut
PUBLISHED: 12-12-2013
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Irritable bowel syndrome with diarrhoea (IBS-D) is particularly debilitating due to urgency and episodic incontinence. Some 5-hydroxytryptamine 3 (5-HT3) receptor antagonists (5-HT3RAs) have proven effective but have serious side effects. Ondansetron, also a 5-HT3RA, has been widely used as an antiemetic with an excellent safety record for over two decades. Our aim was to assess its effectiveness in IBS-D.
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HTR4 gene structure and altered expression in the developing lung.
Respir. Res.
PUBLISHED: 06-13-2013
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Meta-analyses of genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) spanning the 5-hydroxytryptamine receptor 4 (5-HT?R) gene (HTR4) associated with lung function. The aims of this study were to i) investigate the expression profile of HTR4 in adult and fetal lung tissue and cultured airway cells, ii) further define HTR4 gene structure and iii) explore the potential functional implications of key SNPs using a bioinformatic approach.
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Amniopatch procedure after previable iatrogenic rupture of the membranes: a two-center review.
Prenat. Diagn.
PUBLISHED: 03-20-2013
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This study aimed to analyze success rates and pregnancy outcomes of amniopatch procedures for previable iatrogenic preterm prelabour rupture of the membranes (PPROM) with associated oligohydramnios.
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Selection of the Sub-noise Gain Level for Acquisition of VOCAL Data Sets: A Reliability Study.
Ultrasound Med Biol
PUBLISHED: 03-11-2013
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This study was aimed at assessing the intra-observer and inter-observer repeatability of selecting the sub-noise gain (SNG) level when acquiring placental volumes with 3-D power Doppler for analysis using virtual organ computer-aided analysis (VOCAL). Sixty women with uncomplicated singleton pregnancies between 20 and 38 wk of gestation were recruited. Two women were excluded for flash artifact noted during image analysis. Two blinded observers independently adjusted gain to their perceived SNG level before acquiring a static 3-D volume of the placenta at the cord insertion; observers alternated after each acquisition until each had acquired two volumes. A single observer operated the probe at all times. During offline analysis, SNG levels were recorded and VOCAL indices were calculated. SNG exhibited excellent intra-observer and inter-observer reliability. Intra-observer intra-class correlation coefficients (95% confidence intervals) were 0.98 (0.97-0.99) and 0.98 (0.98-0.99) for observers 1 and 2, respectively. The inter-observer intra-class correlation coefficient was 0.96 (0.93-0.98). Despite its perceived inherent subjectivity, the excellent intra-class correlation coefficients obtained in this study support SNG as a promising tool for future research using 3-D power Doppler.
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Outpatient Foley catheter versus inpatient prostaglandin E2 gel for induction of labour: a randomised trial.
BMC Pregnancy Childbirth
PUBLISHED: 01-24-2013
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Induction of labour (IOL) is one of the commonest obstetric interventions, with significant impact on both the individual woman and health service delivery. Outpatient IOL is an attractive option to reduce these impacts. To date there is little data comparing outpatient and inpatient IOL methods, and potential safety concerns (hyperstimulation) if prostaglandins, the standard inpatient IOL medications, are used in the outpatient setting. The purpose of this study was to assess feasibility, clinical effectiveness and patient acceptability of outpatient Foley catheter (OPC) vs. inpatient vaginal PGE2 (IP) for induction of labour (IOL) at term.
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GSTCD and INTS12 regulation and expression in the human lung.
PLoS ONE
PUBLISHED: 01-01-2013
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Genome-Wide Association Study (GWAS) meta-analyses have identified a strong association signal for lung function, which maps to a region on 4q24 containing two oppositely transcribed genes: glutathione S-transferase, C-terminal domain containing (GSTCD) and integrator complex subunit 12 (INTS12). Both genes were found to be expressed in a range of human airway cell types. The promoter regions and transcription start sites were determined in mRNA from human lung and a novel splice variant was identified for each gene. We obtained the following evidence for GSTCD and INTS12 co-regulation and expression: (i) correlated mRNA expression was observed both via Q-PCR and in a lung expression quantitative trait loci (eQTL) study, (ii) induction of both GSTCD and INTS12 mRNA expression in human airway smooth muscle cells was seen in response to TGF?1, (iii) a lung eQTL study revealed that both GSTCD and INTS12 mRNA levels positively correlate with percent predicted FEV1, and (iv) FEV1 GWAS associated SNPs in 4q24 were found to act as an eQTL for INTS12 in a number of tissues. In fixed sections of human lung tissue, GSTCD protein expression was ubiquitous, whereas INTS12 expression was predominantly in epithelial cells and pneumocytes. During human fetal lung development, GSTCD protein expression was observed to be highest at the earlier pseudoglandular stage (10-12 weeks) compared with the later canalicular stage (17-19 weeks), whereas INTS12 expression levels did not alter throughout these stages. Knowledge of the transcriptional and translational regulation and expression of GSTCD and INTS12 provides important insights into the potential role of these genes in determining lung function. Future work is warranted to fully define the functions of INTS12 and GSTCD.
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Mechanisms and causes of wear in tooth enamel: implications for hominin diets.
J R Soc Interface
PUBLISHED: 01-01-2013
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The wear of teeth is a major factor limiting mammalian lifespans in the wild. One method of describing worn surfaces, dental microwear texture analysis, has proved powerful for reconstructing the diets of extinct vertebrates, but has yielded unexpected results in early hominins. In particular, although australopiths exhibit derived craniodental features interpreted as adaptations for eating hard foods, most do not exhibit microwear signals indicative of this diet. However, no experiments have yet demonstrated the fundamental mechanisms and causes of this wear. Here, we report nanowear experiments where individual dust particles, phytoliths and enamel chips were slid across a flat enamel surface. Microwear features produced were influenced strongly by interacting mechanical properties and particle geometry. Quartz dust was a rigid abrasive, capable of fracturing and removing enamel pieces. By contrast, phytoliths and enamel chips deformed during sliding, forming U-shaped grooves or flat troughs in enamel, without tissue loss. Other plant tissues seem too soft to mark enamel, acting as particle transporters. We conclude that dust has overwhelming importance as a wear agent and that dietary signals preserved in dental microwear are indirect. Nanowear studies should resolve controversies over adaptive trends in mammals like enamel thickening or hypsodonty that delay functional dental loss.
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Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
María Soler Artigas, Daan W Loth, Louise V Wain, Sina A Gharib, Ma'en Obeidat, Wenbo Tang, Guangju Zhai, Jing Hua Zhao, Albert Vernon Smith, Jennifer E Huffman, Eva Albrecht, Catherine M Jackson, David M Evans, Gemma Cadby, Myriam Fornage, Ani Manichaikul, Lorna M Lopez, Toby Johnson, Melinda C Aldrich, Thor Aspelund, Inês Barroso, Harry Campbell, Patricia A Cassano, David J Couper, Gudny Eiriksdottir, Nora Franceschini, Melissa Garcia, Christian Gieger, Gauti Kjartan Gislason, Ivica Grković, Christopher J Hammond, Dana B Hancock, Tamara B Harris, Adaikalavan Ramasamy, Susan R Heckbert, Markku Heliövaara, Georg Homuth, Pirro G Hysi, Alan L James, Stipan Janković, Bonnie R Joubert, Stefan Karrasch, Norman Klopp, Beate Koch, Stephen B Kritchevsky, Lenore J Launer, Yongmei Liu, Laura R Loehr, Kurt Lohman, Ruth J F Loos, Thomas Lumley, Khalid A Al Balushi, Wei Q Ang, R Graham Barr, John Beilby, John D Blakey, Mladen Boban, Vesna Boraska, Jonas Brisman, John R Britton, Guy G Brusselle, Cyrus Cooper, Ivan Curjuric, Santosh Dahgam, Ian J Deary, Shah Ebrahim, Mark Eijgelsheim, Clyde Francks, Darya Gaysina, Raquel Granell, Xiangjun Gu, John L Hankinson, Rebecca Hardy, Sarah E Harris, John Henderson, Amanda Henry, Aroon D Hingorani, Albert Hofman, Patrick G Holt, Jennie Hui, Michael L Hunter, Medea Imboden, Karen A Jameson, Shona M Kerr, Ivana Kolčić, Florian Kronenberg, Jason Z Liu, Jonathan Marchini, Tricia McKeever, Andrew D Morris, Anna-Carin Olin, David J Porteous, Dirkje S Postma, Stephen S Rich, Susan M Ring, Fernando Rivadeneira, Thierry Rochat, Avan Aihie Sayer, Ian Sayers, Peter D Sly, George Davey Smith, Akshay Sood, John M Starr, André G Uitterlinden, Judith M Vonk, S Goya Wannamethee, Peter H Whincup, Cisca Wijmenga, O Dale Williams, Andrew Wong, Massimo Mangino, Kristin D Marciante, Wendy L McArdle, Bernd Meibohm, Alanna C Morrison, Kari E North, Ernst Omenaas, Lyle J Palmer, Kirsi H Pietiläinen, Isabelle Pin, Ozren Pola Sbreve Ek, Anneli Pouta, Bruce M Psaty, Anna-Liisa Hartikainen, Taina Rantanen, Samuli Ripatti, Jerome I Rotter, Igor Rudan, Alicja R Rudnicka, Holger Schulz, So-Youn Shin, Tim D Spector, Ida Surakka, Veronique Vitart, Henry Völzke, Nicholas J Wareham, Nicole M Warrington, H-Erich Wichmann, Sarah H Wild, Jemma B Wilk, Matthias Wjst, Alan F Wright, Lina Zgaga, Tatijana Zemunik, Craig E Pennell, Fredrik Nyberg, Diana Kuh, John W Holloway, H Marike Boezen, Debbie A Lawlor, Richard W Morris, Nicole Probst-Hensch, , Jaakko Kaprio, James F Wilson, Caroline Hayward, Mika Kähönen, Joachim Heinrich, Arthur W Musk, Deborah L Jarvis, Sven Gläser, Marjo-Riitta Järvelin, Bruno H Ch Stricker, Paul Elliott, George T O'Connor, David P Strachan, Stephanie J London, Ian P Hall, Vilmundur Gudnason, Martin D Tobin.
Nat. Genet.
PUBLISHED: 04-20-2011
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Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
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Recovering Dietary Information from Extant and Extinct Primates Using Plant Microremains.
Int. J. Primatol.
PUBLISHED: 03-07-2011
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When reconstructing the diets of primates, researchers often rely on several well established methods, such as direct observation, studies of discarded plant parts, and analysis of macrobotanical remains in fecal matter. Most of these studies can be performed only on living primate groups, however, and the diets of extinct, subfossil, and fossil groups are known only from proxy methods. Plant microremains, tiny plant structures with distinctive morphologies, can record the exact plant foods that an individual consumed. They can be recovered from recently deceased and fossil primate samples, and can also be used to supplement traditional dietary analyses in living groups. Here I briefly introduce plant microremains, provide examples of how they have been successfully used to reconstruct the diets of humans and other species, and describe methods for their application in studies of primate dietary ecology.
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Microfossils in calculus demonstrate consumption of plants and cooked foods in Neanderthal diets (Shanidar III, Iraq; Spy I and II, Belgium).
Proc. Natl. Acad. Sci. U.S.A.
PUBLISHED: 12-27-2010
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The nature and causes of the disappearance of Neanderthals and their apparent replacement by modern humans are subjects of considerable debate. Many researchers have proposed biologically or technologically mediated dietary differences between the two groups as one of the fundamental causes of Neanderthal disappearance. Some scenarios have focused on the apparent lack of plant foods in Neanderthal diets. Here we report direct evidence for Neanderthal consumption of a variety of plant foods, in the form of phytoliths and starch grains recovered from dental calculus of Neanderthal skeletons from Shanidar Cave, Iraq, and Spy Cave, Belgium. Some of the plants are typical of recent modern human diets, including date palms (Phoenix spp.), legumes, and grass seeds (Triticeae), whereas others are known to be edible but are not heavily used today. Many of the grass seed starches showed damage that is a distinctive marker of cooking. Our results indicate that in both warm eastern Mediterranean and cold northwestern European climates, and across their latitudinal range, Neanderthals made use of the diverse plant foods available in their local environment and transformed them into more easily digestible foodstuffs in part through cooking them, suggesting an overall sophistication in Neanderthal dietary regimes.
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A sequence variant on 17q21 is associated with age at onset and severity of asthma.
Eur. J. Hum. Genet.
PUBLISHED: 04-07-2010
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A sequence variant (rs7216389-T) near the ORMDL3 gene on chromosome 17q21 was recently found to be associated with childhood asthma. We sought to evaluate the effect of rs7216389-T on asthma subphenotypes and its correlation with expression levels of neighboring genes. The association of rs7216389-T with asthma was replicated in six European and one Asian study cohort (N=4917 cases N=34 589 controls). In addition, we found that the association of rs7216389-T was confined to cases with early onset of asthma, particularly in early childhood (age: 0-5 years OR=1.51, P=6.89.10(-9)) and adolescence (age: 14-17 years OR=1.71, P=5.47.10(-9)). A weaker association was observed for onset between 6 and 13 years of age (OR=1.17, P=0.035), but none for adult-onset asthma (OR=1.07, P=0.12). Cases were further stratified by sex, asthma severity and atopy status. An association with greater asthma severity was observed among early-onset asthma cases (P=0.0012), but no association with sex or atopy status was observed among the asthma cases. An association between sequence variants and the expression of genes in the 17q21 region was assessed in white blood cell RNA samples collected from Icelandic individuals (n=743). rs7216389 associated with the expression of GSDMB and ORMDL3 genes. However, other sequence variants showing a weaker association with asthma compared with that of rs7216389 were more strongly associated with the expression of both genes. Thus, the contribution of rs7216389-T to the development of asthma is unlikely to operate only through an impact on the expression of ORMDL3 or GSDMB genes.
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Detection of geothermal phosphite using high-performance liquid chromatography.
Environ. Sci. Technol.
PUBLISHED: 11-20-2009
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Little is known about the prebiotic mechanisms that initiated the bioavailability of phosphorus, an element essential to life. A better understanding of phosphorus speciation in modern earth environments representative of early earth may help to elucidate the origins of bioavailable phosphorus. This paper presents the first quantitative measurements of phosphite in a pristine geothermal pool representative of early earth. Phosphite and phosphate were initially identified and quantified in geothermal pool and stream samples at Hot Creek Gorge near Mammoth Lakes, California, using suppressed conductivity ion chromatography. Results confirmed the presence of 0.06 +/- 0.02 microM of phosphite and 0.05 +/- 0.01 microM of phosphate in a geothermal pool. In the stream, phosphite concentrations were below detection limit (0.04 microM) and phosphate was measured at 1.06 +/- 0.36 microM. The presence of phosphite in the geothermal pool was confirmed using both chemical oxidation and ion chromatography/mass spectrometry.
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Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
Dana B Hancock, María Soler Artigas, Sina A Gharib, Amanda Henry, Ani Manichaikul, Adaikalavan Ramasamy, Daan W Loth, Medea Imboden, Beate Koch, Wendy L McArdle, Albert V Smith, Joanna Smolonska, Akshay Sood, Wenbo Tang, Jemma B Wilk, Guangju Zhai, Jing Hua Zhao, Hugues Aschard, Kristin M Burkart, Ivan Curjuric, Mark Eijgelsheim, Paul Elliott, Xiangjun Gu, Tamara B Harris, Christer Janson, Georg Homuth, Pirro G Hysi, Jason Z Liu, Laura R Loehr, Kurt Lohman, Ruth J F Loos, Alisa K Manning, Kristin D Marciante, Ma'en Obeidat, Dirkje S Postma, Melinda C Aldrich, Guy G Brusselle, Ting-hsu Chen, Gudny Eiriksdottir, Nora Franceschini, Joachim Heinrich, Jerome I Rotter, Cisca Wijmenga, O Dale Williams, Amy R Bentley, Albert Hofman, Cathy C Laurie, Thomas Lumley, Alanna C Morrison, Bonnie R Joubert, Fernando Rivadeneira, David J Couper, Stephen B Kritchevsky, Yongmei Liu, Matthias Wjst, Louise V Wain, Judith M Vonk, André G Uitterlinden, Thierry Rochat, Stephen S Rich, Bruce M Psaty, George T O'Connor, Kari E North, Daniel B Mirel, Bernd Meibohm, Lenore J Launer, Kay-Tee Khaw, Anna-Liisa Hartikainen, Christopher J Hammond, Sven Gläser, Jonathan Marchini, Peter Kraft, Nicholas J Wareham, Henry Völzke, Bruno H C Stricker, Timothy D Spector, Nicole M Probst-Hensch, Deborah Jarvis, Marjo-Riitta Järvelin, Susan R Heckbert, Vilmundur Gudnason, H Marike Boezen, R Graham Barr, Patricia A Cassano, David P Strachan, Myriam Fornage, Ian P Hall, Josée Dupuis, Martin D Tobin, Stephanie J London.
PLoS Genet.
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Genome-wide association studies have identified numerous genetic loci for spirometic measures of pulmonary function, forced expiratory volume in one second (FEV(1)), and its ratio to forced vital capacity (FEV(1)/FVC). Given that cigarette smoking adversely affects pulmonary function, we conducted genome-wide joint meta-analyses (JMA) of single nucleotide polymorphism (SNP) and SNP-by-smoking (ever-smoking or pack-years) associations on FEV(1) and FEV(1)/FVC across 19 studies (total N?=?50,047). We identified three novel loci not previously associated with pulmonary function. SNPs in or near DNER (smallest P(JMA?=?)5.00×10(-11)), HLA-DQB1 and HLA-DQA2 (smallest P(JMA?=?)4.35×10(-9)), and KCNJ2 and SOX9 (smallest P(JMA?=?)1.28×10(-8)) were associated with FEV(1)/FVC or FEV(1) in meta-analysis models including SNP main effects, smoking main effects, and SNP-by-smoking (ever-smoking or pack-years) interaction. The HLA region has been widely implicated for autoimmune and lung phenotypes, unlike the other novel loci, which have not been widely implicated. We evaluated DNER, KCNJ2, and SOX9 and found them to be expressed in human lung tissue. DNER and SOX9 further showed evidence of differential expression in human airway epithelium in smokers compared to non-smokers. Our findings demonstrated that joint testing of SNP and SNP-by-environment interaction identified novel loci associated with complex traits that are missed when considering only the genetic main effects.
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The Yersinia pseudotuberculosis degradosome is required for oxidative stress, while its PNPase subunit plays a degradosome-independent role in cold growth.
FEMS Microbiol. Lett.
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Yersinia polynucleotide phosphorylase (PNPase), a 3-5 exoribonuclease, has been shown to affect growth during several stress responses. In Escherichia coli, PNPase is one of the subunits of a multiprotein complex known as the degradosome, but also has degradosome-independent functions. The carboxy-terminus of E. coli ribonuclease E (RNase E) serves as the scaffold upon which PNPase, enolase (a glycolytic enzyme), and RhlB helicase all have been shown to bind. In the yersiniae, only PNPase has thus far been shown to physically interact with RNase E. We show by bacterial two-hybrid and co-immunoprecipitation assays that RhlB and enolase also interact with RNase E. Interestingly, although PNPase is required for normal growth at cold temperatures, assembly of the yersiniae degradosome was not required. However, degradosome assembly was required for growth in the presence of reactive oxygen species. These data suggest that while the Yersinia pseudotuberculosis PNPase plays a role in the oxidative stress response through a degradosome-dependent mechanism, PNPases role during cold stress is degradosome-independent.
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Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
Am. J. Respir. Crit. Care Med.
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Genome-wide association studies (GWAS) have identified loci influencing lung function, but fewer genes influencing chronic obstructive pulmonary disease (COPD) are known.
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Current pregnancy outcomes in women with cystic fibrosis.
Eur. J. Obstet. Gynecol. Reprod. Biol.
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Women with cystic fibrosis (CF) now achieve a greater life expectancy and therefore have greater expectations from life. Literature reporting pregnancy outcomes in CF is still sparse. There remains a legacy of advising women with significant disease to avoid pregnancy. We aimed to assess current maternal and fetal outcomes in women with CF with varied pre-pregnancy lung function.
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The diet of Australopithecus sediba.
Nature
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Specimens of Australopithecus sediba from the site of Malapa, South Africa (dating from approximately 2 million years (Myr) ago) present a mix of primitive and derived traits that align the taxon with other Australopithecus species and with early Homo. Although much of the available cranial and postcranial material of Au. sediba has been described, its feeding ecology has not been investigated. Here we present results from the first extraction of plant phytoliths from dental calculus of an early hominin. We also consider stable carbon isotope and dental microwear texture data for Au. sediba in light of new palaeoenvironmental evidence. The two individuals examined consumed an almost exclusive C(3) diet that probably included harder foods, and both dicotyledons (for example, tree leaves, fruits, wood and bark) and monocotyledons (for example, grasses and sedges). Like Ardipithecus ramidus (approximately 4.4 Myr ago) and modern savanna chimpanzees, Au. sediba consumed C(3) foods in preference to widely available C(4) resources. The inferred consumption of C(3) monocotyledons, and wood or bark, increases the known variety of early hominin foods. The overall dietary pattern of these two individuals contrasts with available data for other hominins in the region and elsewhere.
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In search of work/life balance: trainee perspectives on part-time obstetrics and gynaecology specialist training.
BMC Res Notes
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Part-time training (PTT) is accessed by approximately 10% of Australian obstetrics and gynaecology trainees, a small but increasing minority which reflects the growing demand for improved work/life balance amongst the Australian medical workforce. This survey reports the attitudes and experiences of both full-time and part-time trainees to PTT.
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Detection of mutations in KLHL3 and CUL3 in families with Familial Hyperkalaemic Hypertension (FHHt or Gordon Syndrome).
Clin. Sci.
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The study of families with rare inherited forms of hypo- and hypertension has been one of the most successful strategies to probe the molecular pathophysiology of blood pressure control and has revealed dysregulation of distal nephron sodium reabsorption to be a common mechanism. Familial Hyperkalaemic Hypertension (FHHt, Gordon Syndrome) is a salt-dependent form of hypertension caused by mutations in regulators of the thiazide-sensitive NaCl cotransporter, NCC, and is effectively treated by thiazide diuretics and/or dietary salt restriction. Variation in at least four genes can cause FHHt, including With No lysine (K) kinases (WNK1 and WNK4), KeLcH-Like3 (KLHL3) and CULlin3 (CUL3). Here we identify novel disease-causing variants in CUL3 and KLHL3 segregating in 63% of pedigrees with previously unexplained FHHt, confirming the importance of these recently-described FHHt genes. We demonstrate conclusively, in two unrelated affected individuals, that rare intronic variants in CUL3 cause skipping of exon 9, as has been proposed. KLHL3 variants all occur in kelch-repeat domains and so are likely to disrupt WNK-complex binding. We found no evidence of plausible disease-causing variants within SLC4A8 (an alternative thiazide-sensitive sodium transporter) in this population. This supports existing evidence that CUL3 and KLHL3 gene products are physiologically important regulators of thiazide-sensitive distal nephron NaCl reabsorption, and hence potentially interesting novel anti-hypertensive drug targets. As a third of our non-WNK FHHt families do not have plausible CUL3 or KLHL3 variants, there are likely to be additional, as yet undiscovered, regulators of thiazide-sensitive pathways.
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