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RISS 인기검색어
- 검색키워드
- 저자 : Cingolani, Pablo (검색결과 2 건)
- 무료
- 기관 내 무료
- 유료
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Usefulness of nBos d 4, 5 and nBos d 8 Specific IgE Antibodies in Cow’s Milk Allergic Children
Anna Cingolani,Sabrina Di Pillo,Marzia Cerasa,Daniele Rapino,Nicola Pietro Consilvio,Marina Attanasi,Alessandra Scaparrotta,M. Loredana Marcovecchio,Angelika Mohn,Francesco Chiarelli 대한천식알레르기학회 2014 Allergy, Asthma & Immunology Research Vol.6 No.2
Purpose: The aim of study was to assess the value of recombinants in predicting the degree of symptoms in children with and without anaphylaxisto cow’s milk. Methods: The study included 79 children (70±40 months) referred to the Allergological Unit of the Pediatric Department betweenthe years 2008-2012. Group A was composed of 17 children (78±49.6 months) with anaphylaxis after ingestion of milk. Group B was composed of62 children (73.1±38.6 months) without a history of anaphylaxis, but with less severe symptoms (gastrointestinal and/or skin symptoms). All patientsfrom Group B had a positive open challenge with cow’s milk. All patients underwent an allergic evaluation and blood samples were collectedto test for IgE to recombinans of milk (nBos d 4, 5, 8). Results: A significant difference in nBos d 8 emerged with higher levels in Group A (median[IQR]=2.80 [0.91-16.1]) than B (0.65 [0.24-1.67]; P=0.006), whereas there were no statistically significant differences for nBos d 4 and 5. The recombinants’sum was higher in Group A than B: 8.39 [2.72-41.39] vs 3.04 [1.85-7.31] kUA/L; P=0.044. The recombinant nBos d 8 was superior to the otherrecombinants in identifying children at risk for anaphylaxis, with an area under the curve of 0.718 (95% CI, 0.57-0.86, P=0.006). Considering acutoff of 1.8 kUA/L, nBos d 8 had the most favorable sensitivity and specificity ratio (sensitivity=0.65, specificity=0.77) with an odd ratio of 6.02(95% C.I: 1.89-19.23). Conclusions: This study suggested 2 phenotypes of allergic children, “high-anaphylaxis-risk” and “milder-risk”. These typescan be differentiated through measuring the level of IgE to nBos d 8. Key Words: Child; symptoms; milk; allergy; recombinant proteins
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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Jun, Goo,Manning, Alisa,Almeida, Marcio,Zawistowski, Matthew,Wood, Andrew R.,Teslovich, Tanya M.,Fuchsberger, Christian,Feng, Shuang,Cingolani, Pablo,Gaulton, Kyle J.,Dyer, Thomas,Blackwell, Thomas W. National Academy of Sciences 2018 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF Vol.115 No.2
<P>A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association. Using gene expression data on 21,677 transcripts for 643 pedigree members, we identified evidence for large-effect rare-variant c/s-expression quantitative trait loci that could not be detected in population studies, validating our approach. Flowever, we did not identify any rare variants of large effect associated with T2D, or the related traits of fasting glucose and insulin, suggesting that large-effect rare variants account for only a modest fraction of the genetic risk of these traits in this sample of families. Reliable identification of large-effect rare variants will require larger samples of extended pedigrees or different study designs that further enrich for such variants.</P>
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