Thursday, 20 October 2011

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Sender's message: Sepsis or genomics or altitude: JKB_daily1

Sent on Thursday, 2011 Oct 20
Search (sepsis[MeSH Terms] OR septic shock[MeSH Terms] OR altitude[MeSH Terms] OR genomics[MeSH Terms] OR genetics[MeSH Terms] OR retrotransposons[MeSH Terms] OR macrophage[MeSH Terms]) AND ("2009/8/8"[Publication Date] : "3000"[Publication Date]) AND (("Science"[Journal] OR "Nature"[Journal] OR "The New England journal of medicine"[Journal] OR "Lancet"[Journal] OR "Nature genetics"[Journal] OR "Nature medicine"[Journal]) OR (Hume DA[Author] OR Baillie JK[Author] OR Faulkner, Geoffrey J[Author]))
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PubMed Results
Items 1 - 6 of 6

1. Science. 2011 Oct 7;334(6052):15.

Genomics is not enough.

Chakravarti A. Free Article
PMID:
21980079
[PubMed - indexed for MEDLINE]
Related citations
Click here to read

2. N Engl J Med. 2011 Sep 29;365(13):1201-11.

Treatment of neonatal sepsis with intravenous immune g lobulin.

INIS Collaborative Group, Brocklehurst P, Farrell B, King A, Juszczak E, Darlow B, Haque K, Salt A, Stenson B, Tarnow-Mordi W.

Collaborators: García RT, Raineri A, Falcó O, Redondo F, Farri M, Funes SM, Burgaretta C, Ramirez L, Fernandez F, Levinson L, Agudo E, Bisbal M, Guerrero M, Szyld E, Brazda G, Deguer CA, Ceriani Cernadas JM, Cravedi V, Leyton A, Prado A, Herrera NR, Murad M, Aguirre JD, Arosio S, Picón C, Posse N, Rolón SV, Vacou P, Buking C, Soto Conti CP, Deckert M, Kronemberger M, Navarro I, Collino E, Peyrano AJ, Bouceau N, Bruni MT, Parga L, Varela DM, Levinson L, Sachetti P, Alem MI, Camusso HC, Oviedo A, Ponce de León PA, Díaz R, Morante J, Puig G, del Barco M, Filtrín MR, Oliveira F, Halac E, Alberto G, Meskell S, Reynolds G, Craven P, Hobson L, Meredith K, Chambers C, Phelps J, Morris S, Buchan J, Glover R, Sarunac J, Guaran R, Pazanin N, Stack J, Casalaz D, Saker S, Wilson D, Hayes M, Kopp H, Lewis T, Coughtrey H, Davies K, Simeon L, Cartwright D, Hermann G, Pritchard M, Mills J, Perkins L, Plover C, Butterley K, Dargaville P, Ryan G, Graudins I, Lui K, Michalowski J, Gibson M, Jeffrey M, Klucklow M, Evans N, Hay J, Reid S, Callanan K, Doyle L, Wong S, Fa P, Luig M, Tarnow-Mordi W, Twible B, Bhatia V, Goodchild L, Western K, Cossey V, Dahl M, Reinholdt J, Hoest B, Vad Pedersen L, Dellagrammaticas H, Iacovidou N, Bradfield L, Murphy BP, Ryan CA, Gojic M, Vasiljevic B, Darlow B, McNeill N, Pugh-Williams D, Broadbent R, McCaffrey F, Johnson O, Bushell T, L'Anson J, Wong M, Battin M, Anderson-Hawke K, Kennedy A, Brown J, Kumar P, Butler S, Hale A, Harris D, Elder D, Gibson M, Bali S, Cubitt A, Jones L, Rackham O, Macrae E, Staines J, Konig S, Wong E, Marshall F, Saeed MA, Maybor C, Rose SJ, Chatfield SL, Szpara S, Elliot L, Soe T, Nycyk J, Perry M, Freeman D, Rogahn D, Kirby H, Madar J, Adiotomre P, Watkinson J, Al Hilaly NH, Wijetunge V, Simpson J, Wakefield R, Ainsworth S, McCormack K, Peters M, Tighe H, Cruwys M, Hoong MC, Crosbie E, Knapton A, Lal MK, Whalley B, Pentelow H, Rao P, Doyle H, Chang J, Lam S, Jani BR, West G, Kirby D, Kumararatne B, Gopinathan V, Irving D, Hendry S, Ibrahim M, McGahon A, Nicholl R, Campbell C, Dorling J, Cousins R, Kisat H, Rao R, Sheehy D, Brazier J, Thambapillai RE, Powls A, Provan S, Fox P, Rubin S, Barry WC, Handley L, Henwood J, Murdoch E, Bhadoria R, Shoilan C, Lama M, Shahili S, Afshar K, Yadav M, Munyard P, Nichols P, Collinson A, Mill H, Al-Muzaffar I, Fernandez M, McCormick J, Stenson B, McCullagh K, Sweet D, Deshpande S, Taplin M, Barrow L, Lawn C, Cousins J, Pike A, Shephard R, Speirs C, Emmerson A, Mercy J, Groves CR, Jain A, Waite C, Otunla T, Woodford M, Arya R, Qasim M, Sivashankar S, Armstrong S, Coombs RC, Garvie D, Holmes S, Gupta A, Bradshaw JM, Satodia P, Glennard A, Webb RD, Frost J, Wilson N, Long D, O'Brien S, Ibhanesebhor S, McManus A, Garg A, Triance G, Blades J, Russell-Taylor M, Bowden L, O'Brien R.

Source

National Perinatal Epidemiology Unit, University of Oxford, Old Road Campus, Headington, Oxford OX3 7LF, United Kingdom.

Abstract

BACKGROUND:

Neonatal sepsis is a major cause of death and complications despite antibiotic treatment. Effective adjunctive treatments are needed. Newborn infants are relatively deficient in endogenous immunoglobulin. Meta-analyses of trials of intravenous immune globulin for suspected or proven neonatal sepsis suggest a reduced rate of death from any cause, but the trials have been small and have varied in quality.

METHODS:

At 113 hospitals in nine countries, we enrolled 3493 infants receiving antibiotics for suspected or proven serious infection and randomly assigned them to receive two infusions of either polyvalent IgG immune globulin (at a dose of 500 mg per kilogram of body weight) or matching placebo 48 hours apart. The primary outcome was death or major disability at the age of 2 years.

RESULTS:

There was no significant between-group difference in the rates of the primary outcome, which occurred in 686 of 1759 infants (39.0%) who received intravenous immune globulin and in 677 of 1734 infants (39.0%) who received placebo (relative risk, 1.00; 95% confidence interval, 0.92 to 1.08). Similarly, there were no significant differences in the rates of secondary outcomes, including the incidence of subsequent sepsis episodes. In follow-up of 2-year-old infants, there were no significant differences in the rates of major or nonmajor disability or of adverse events.

CONCLUSIONS:

Therapy with intravenous immune globulin had no effect on the outcomes of suspected or proven neonatal sepsis.

PMID:
21962214
[PubMed - indexed for MEDLINE]
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3. Science. 2011 Oct 7;334(6052):94-8. Epub 2011 Sep 22.

An Ab original Australian genome reveals separate human dispersals into Asia.

Rasmussen M, Guo X, Wang Y, Lohmueller KE, Rasmussen S, Albrechtsen A, Skotte L, Lindgreen S, Metspalu M, Jombart T, Kivisild T, Zhai W, Eriksson A, Manica A, Orlando L, De La Vega FM, Tridico S, Metspalu E, Nielsen K, Ávila-Arcos MC, Moreno-Mayar JV, Muller C, Dortch J, Gilbert MT, Lund O, Wesolowska A, Karmin M, Weinert LA, Wang B, Li J, Tai S, Xiao F, Hanihara T, van Driem G, Jha AR, Ricaut FX, de Knijff P, Migliano AB, Gallego Romero I, Kristiansen K, Lambert DM, Brunak S, Forster P, Brinkmann B, Nehlich O, Bunce M, Richards M, Gupta R, Bustamante CD, Krogh A, Foley RA, Lahr MM, Balloux F, Sicheritz-Pontén T, Villems R, Nielsen R, Wang J, Willerslev E.

Source

Centre for GeoGenetics, Natural History Museum of Denmark, Øster Voldgade 5-7, 1350 Copenhagen, Denmark.

Abstract

We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human dispersal into eastern Asia, possibly 62,000 to 75,000 years ago. This dispersal is separate from the one that gave rise to modern Asians 25,000 to 38,000 years ago. We also find evidence of gene flow between populations of the two dispersal waves prior to the divergence of Native Americans from modern Asian ancestors. Our findings support the hypothesis that present-day Aboriginal Australians descend from the earliest humans to occupy Australia, likely representing one of the oldest continuous populations outside Africa.

PMID:
21940856
[PubMed - indexed for MEDLINE]
Related citations
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4. Nature. 2011 Sep 15;477(7364):359-61.

Biomedical illustration: From monsters to molecules.

Lok C.
PMID:
21928542
[PubMed - indexed for MEDLINE]
Related citations
5. Nature. 2011 Sep 14;477(7364):326-9. doi: 10.1038/nature10432.

Sequence-based characterization of structural variation in the mouse genome.

Yalcin B, Wong K, Agam A, Goodson M, Keane TM, Gan X, Nellåker C, Goodstadt L, Nicod J, Bhomra A, Hernandez-Pliego P, Whitley H, Cleak J, Dutton R, Janowitz D, Mott R, Adams DJ, Flint J.

Source

The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.

Abstract

Structural variation is widespread in mammalian genomes and is an important cause of disease, but just how abundant and important structural variants (SVs) are in shaping phenotypic variation remains unclear. Without knowing how many SVs there are, and how they arise, it is difficult to discover what they do. Combining experimental with automated analyses, we identified 711,920 SVs at 281,243 sites in the genomes of thirteen classical and four wild-derived inbred mouse strains. The majority of SVs are less than 1 kilobase in size and 98% are deletions or insertions. The breakpoints of 160,000 SVs were mapped to base pair resolution, allowing us to infer that insertion of retrotransposons causes more than half of SVs. Yet, despite their prevalence, SVs are less likely than other sequence variants to cause gene expression or quantitative phenotypic variation. We identified 24 SVs that disrupt coding exons, acting as rare variants of large effect on gene function. One-third of the genes so affected have immunological functions.

PMID:
21921916
[PubMed - indexed for MEDLINE]
Related citations
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6. Nature. 2011 Sep 14;477(7364):289-94. doi: 10.1038/nature10413.

Mouse genomic variation and its effect on phenotypes and gene regulation.

Keane TM, Goodstadt L, Danecek P, White MA, Wong K, Yalcin B, Heger A, Agam A, Slater G, Goodson M, Furlotte NA, Eskin E, Nellåker C, Whitley H, Cleak J, Janowitz D, Hernandez-Pliego P, Edwards A, Belgard TG, Oliver PL, McIntyre RE, Bhomra A, Nicod J, Gan X, Yuan W, van der Weyden L, Steward CA, Bala S, Stalker J, Mott R, Durbin R, Jackson IJ, Czechanski A, Guerra-Assunção JA, Donahue LR, Reinholdt LG, Payseur BA, Ponting CP, Birney E, Flint J, Adams DJ.

Source

The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK.

Abstract

We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism.

PMID:
21921910
[PubMed - indexed for MEDLINE]
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