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排序方式: 共有439条查询结果,搜索用时 31 毫秒
1.
Hanfei Xu Karen Schwander Michael R. Brown Wenyi Wang R. J. Waken Eric Boerwinkle L. Adrienne Cupples Lisa de las Fuentes Diana van Heemst Oyomoare Osazuwa-Peters Paul S. de Vries Ko Willems van Dijk Yun Ju Sung Xiaoyu Zhang Alanna C. Morrison D. C. Rao Raymond Noordam Ching-Ti Liu 《European journal of human genetics : EJHG》2021,29(5):839
Recent studies consider lifestyle risk score (LRS), an aggregation of multiple lifestyle exposures, in identifying association of gene-lifestyle interaction with disease traits. However, not all cohorts have data on all lifestyle factors, leading to increased heterogeneity in the environmental exposure in collaborative meta-analyses. We compared and evaluated four approaches (Naïve, Safe, Complete and Moderator Approaches) to handle the missingness in LRS-stratified meta-analyses under various scenarios. Compared to “benchmark” results with all lifestyle factors available for all cohorts, the Complete Approach, which included only cohorts with all lifestyle components, was underpowered due to lower sample size, and the Naïve Approach, which utilized all available data and ignored the missingness, was slightly inflated. The Safe Approach, which used all data in LRS-exposed group and only included cohorts with all lifestyle factors available in the LRS-unexposed group, and the Moderator Approach, which handled missingness via moderator meta-regression, were both slightly conservative and yielded almost identical p values. We also evaluated the performance of the Safe Approach under different scenarios. We observed that the larger the proportion of cohorts without missingness included, the more accurate the results compared to “benchmark” results. In conclusion, we generally recommend the Safe Approach, a straightforward and non-inflated approach, to handle heterogeneity among cohorts in the LRS based genome-wide interaction meta-analyses.Subject terms: Genetics, Risk factors 相似文献
2.
Alanna M. Kongkriangkai Christopher King Lisa J. Martin Emily Wakefield Carlos E. Prada Geraldine Kelly‐Mancuso Elizabeth K. Schorry 《American journal of medical genetics. Part A》2019,179(4):602-607
Tumor growths, migraine headaches, and other health‐related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. The survey included the Numeric Rating Scale 11 (NRS11) to assess pain intensity and the Patient Reported Outcomes Measurement Information System (PROMIS) to assess pain interference. A supplemental survey was created to measure pain frequency, chronicity, quality, and location. Results suggest pain is not only present in 55% of the cohort, but that it can begin at early ages. Pain was chronic in 35% of participants, with 41% reporting the use of medication to manage pain symptoms. Common sources of pain included migraine headaches and NF‐related tumors. Pain was described as having neuropathic features (i.e., burning, tingling, numbness, or itching), and was localized to the head, back, and extremities. Further, subsets of participants reported moderate‐to‐severe pain intensity, high frequency of pain, and interference of pain in daily activities. Continued investigation of the pain experience in a multisystem disorder, such as NF1, remains essential to providing guidance in the setting of complex pain management. 相似文献
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Expression of endocrine gland-derived vascular endothelial growth factor in ovarian carcinoma. 总被引:10,自引:0,他引:10
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PB Shetty H Tang BO Tayo AC Morrison CL Hanis DC Rao JH Young ER Fox E Boerwinkle RS Cooper NJ Risch X Zhu;the Candidate Gene Association Resource 《Journal of hypertension》2012,30(10):1970-1976
OBJECTIVE:: Genetic variants in 296 genes in regions identified through admixture mapping of hypertension, BMI, and lipids were assessed for association with hypertension, blood pressure (BP), BMI, and high-density lipoprotein cholesterol (HDL-C). METHODS:: This study identified coding SNPs identified from HapMap2 data that were located in genes on chromosomes 5, 6, 8, and 21, wherein ancestry association evidence for hypertension, BMI, or HDL-C was identified in previous admixture mapping studies. Genotyping was performed in 1733 unrelated African-Americans from the National Heart, Lung and Blood Institute's Family Blood Pressure Project, and gene-based association analyses were conducted for hypertension, SBP, DBP, BMI, and HDL-C. A gene score based on the number of minor alleles of each SNP in a gene was created and used for gene-based regression analyses, adjusting for age, age, sex, local marker ancestry, and BMI, as applicable. An individual's African ancestry estimated from 2507 ancestry-informative markers was also adjusted for to eliminate any confounding due to population stratification. RESULTS:: CXADR (rs437470) on chromosome 21 was associated with SBP and DBP with or without adjusting for local ancestry (P?0.0006). F2RL1 (rs631465) on chromosome 5 was associated with BMI (P?=?0.0005). Local ancestry in these regions was associated with the respective traits as well. CONCLUSION:: This study suggests that CXADR and F2RL1 likely play important roles in BP and obesity variation, respectively; and these findings are consistent with those of other studies, so replication and functional analyses are necessary. 相似文献
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Rebecca L. Johnson Matthew P. Abdel Ryan D. Frank Alanna M. Chamberlain Elizabeth B. Habermann Carlos B. Mantilla 《The Journal of arthroplasty》2019,34(1):56-64.e5
Background
Frailty and disability from arthritis are closely intertwined and little is known about the impact of frailty on total hip arthroplasty (THA) outcomes. We hypothesized that higher preoperative frailty is associated with more adverse events following THA.Methods
All patients (≥50 years) undergoing unilateral primary or revision THA at a single institution from 2005 through 2016 were included. We analyzed the association of frailty (measured by a frailty deficit index) with postoperative outcomes in hospital, within 90 days, and within 1 year using multivariable logistic and Cox regression, adjusting for age.Results
Among 8640 patients undergoing THA (6502 primary and 2138 revisions; median age 68 years), 22.7%, 32.9%, and 44.4% were classified as frail, vulnerable, and nonfrail, respectively. Frail patients tended to be female, older, sicker (American Society of Anesthesiologists ≥3), and received general anesthesia more frequently. Relative to nonfrail patients, frail patients had significantly increased odds of wound complications/hematoma (odds ratio 2.01) and reoperation (odds ratio 2.74) while in hospital, and increased risks for mortality (1-year hazards ratio [HR] 5.65), infection (1-year HR 3.63), dislocation (1-year HR 2.10), wound complications/hematoma (1-year HR 2.61), and reoperation (1-year HR 2.22) within 90 days and 1 year. Frailty was also associated with >5.5-fold increased mortality risk 1 year following THA. No significant associations with aseptic loosening, periprosthetic fracture, or heterotopic ossification were observed.Conclusion
A higher preoperative frailty index is associated with increased mortality and perioperative complications following primary and revision THA. The proposed frailty deficit index provides clinically important information for healthcare providers to use when counseling patients prior to decision for surgery. 相似文献8.
9.
STOPDVTs: Development and testing of a clinical assessment tool to guide nursing assessment of postoperative patients for Deep Vein Thrombosis 下载免费PDF全文
Alanna O'Brien BN MN Bernice Redley PhD BN Beverley Wood PhD BN Mari Botti PhD BN Anastasia F Hutchinson PhD BN 《Journal of clinical nursing》2018,27(9-10):1803-1811
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