Single-cell whole-genome preamplification was applied to PCR-based analysis of multiple disease loci from the same diploid cell. This method allows diagnosis of multiple disease genes and other uses.
Eighteen patients 2 months to 11 years of age with culture proven bacterial infections were treated with parenteral ticarcillin/clavulanic acid in a noncomparative study. Seven patients had ...pneumonia, two had tracheobronchitis, three had soft tissue abscess, two had periorbital cellulitis, three had urinary tract infection and one had purulent bursitis. Four of the 18 were bacteremic. Organisms treated included Staphylococcus aureus (6), Pseudomonas aeruginosa (5), Haemophilus influenzae (2), Branhamella catarrhalis (2), Escherichia coli (1), Streptococcus pneumoniae (1), Klebsiella pneumoniae (1), Streptococcus pyogenes (1) and Serratia marcescens (1). Thirteen of 15 (87%) organisms tested were beta-lactamase positive. Therapy was given intravenously in six doses per day at 310 mg/kg. Duration of treatment ranged from 5 to 28 (mean 11) days, with an average time of 4 days to clinical improvement. Seventeen patients (94%) were clinically cured. One patient with recurrent aspiration pneumonia due to mixed infection with multiple gram-negative enteric bacilli failed therapy. Adverse effects were minimal and transient. Notably, mild to moderate thrombocytosis occurred in four (22%) patients that resolved uneventfully. We conclude that ticarcillin/clavulanic acid is safe and effective therapy for serious infections in hospitalized children.
PLoS genetics Stacey Simon N; Sulem Patrick; Zanon Carlo ...
2010
Journal Article
Provider: - Institution: - Data provided by Europeana Collections-
We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of ...a Chinese population, between rs2046210T and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210T does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435G allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435G are well tagged by rs2046210T only in Asians. The rs9397435G allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping.
- Published- All metadata published by Europeana are available free of restriction under the Creative Commons CC0 1.0 Universal Public Domain Dedication. However, Europeana requests that you actively acknowledge and give attribution to all metadata sources including Europeana
PDF
