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排序方式: 共有244条查询结果,搜索用时 15 毫秒
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Shylaja Srinivasan Ling Chen Jennifer Todd Jasmin Divers Samuel Gidding Steven Chernausek Rose A. Gubitosi-Klug Megan M. Kelsey Rachana Shah Mary Helen Black Lynne E. Wagenknecht Alisa Manning Jason Flannick Giuseppina Imperatore Josep M. Mercader Dana Dabelea Jose C. Florez 《Diabetes》2021,70(4):996
The prevalence of type 2 diabetes in youth has increased substantially, yet the genetic underpinnings remain largely unexplored. To identify genetic variants predisposing to youth-onset type 2 diabetes, we formed ProDiGY, a multiethnic collaboration of three studies (TODAY, SEARCH, and T2D-GENES) with 3,006 youth case subjects with type 2 diabetes (mean age 15.1 ± 2.9 years) and 6,061 diabetes-free adult control subjects (mean age 54.2 ± 12.4 years). After stratifying by principal component–clustered ethnicity, we performed association analyses on ∼10 million imputed variants using a generalized linear mixed model incorporating a genetic relationship matrix to account for population structure and adjusting for sex. We identified seven genome-wide significant loci, including the novel locus rs10992863 in PHF2 (P = 3.2 × 10−8; odds ratio [OR] = 1.23). Known loci identified in our analysis include rs7903146 in TCF7L2 (P = 8.0 × 10−20; OR 1.58), rs72982988 near MC4R (P = 4.4 × 10−14; OR 1.53), rs200893788 in CDC123 (P = 1.1 × 10−12; OR 1.32), rs2237892 in KCNQ1 (P = 4.8 × 10−11; OR 1.59), rs937589119 in IGF2BP2 (P = 3.1 × 10−9; OR 1.34), and rs113748381 in SLC16A11 (P = 4.1 × 10−8; OR 1.04). Secondary analysis with 856 diabetes-free youth control subjects uncovered an additional locus in CPEB2 (P = 3.2 × 10−8; OR 2.1) and consistent direction of effect for diabetes risk. In conclusion, we identified both known and novel loci in the first genome-wide association study of youth-onset type 2 diabetes. 相似文献
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Tight junction proteins claudin-3 and claudin-4 are frequently overexpressed in ovarian cancer but not in ovarian cystadenomas. 总被引:18,自引:0,他引:18
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Rao Vishal Prasad Rachana Subash Anand Sinha Piyush Majumdar Kinjal 《Journal of robotic surgery》2020,14(2):337-341
Journal of Robotic Surgery - The retroauricular approach is being increasingly used in surgeries of head and neck in an attempt to avoid a disfiguring scar over the face or neck. The elevation of... 相似文献
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Rachana Kathuria Ujjal Poddar Jayanta Ghosh Surender Kumar Yachha V. Gnanapriya Rakesh Pandey Anupriya Kaur Subha Phadke Anshu Srivastava 《Indian journal of gastroenterology》2012,31(6):343-345
Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before the age of 1?year. Barring a case report of isolated fetal ascites, there is no report of intractable ascites as the presentation of WD till date. We report two siblings with WD who both had intractable ascites and required therapeutic paracentesis, albumin infusion, and diuretics to control tense ascites. Although rare, WD should be considered in the differential diagnosis of infantile ascites. 相似文献
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Kelly Merlo Jacob Aaronson Rachana Vaidya Taraneh Rezaee Vijaya Chalivendra Lamya Karim 《Journal of orthopaedic research》2020,38(5):972-983
Advanced glycation end-products (AGEs) have been suggested to contribute to bone fragility in type 2 diabetes (T2D). AGEs can be induced through in vitro sugar incubations but there is limited data on the effect of total fluorescent AGEs on mechanical properties of human cortical bone, which may have altered characteristics in T2D. Thus, to examine the effect of AGEs on bone directly in T2D patients with uncontrolled sugar levels, it is essential to first understand the fundamental mechanisms by studying the effects of controlled in vitro-induced AGEs on cortical bone mechanical behavior. Here, human cortical bone specimens from female cadaveric tibias (ages 57–87) were incubated in an in vitro 0.6 M ribose or vehicle solution (n = 20/group) for 10 days at 37°C, their mechanical properties were assessed by microindentation and fracture toughness tests, and induced AGE levels were quantified through a fluorometric assay. Results indicated that ribose-incubated bone had significantly more AGEs (+81%, p ≤ 0.005), lower elastic modulus assessed by traditional microindentation, and lower fracture toughness compared with vehicle controls. Furthermore, based on pooled data, increased AGEs were significantly correlated with deteriorated mechanical properties. The findings presented here show that the accumulation of AGEs allows for lower stiffness and increased ability to initiate a crack in human cortical bone. Statement of clinical significance: High sugar levels as in T2D results in deteriorated bone quality via AGE accumulation with a consequent weakening in bone's mechanical integrity. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:972-983, 2020 相似文献
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Fry-Revere Sigrid Chen Deborah Bastani Bahar Golestani Simin Agarwal Rachana Kugathasan Howsikan Le Melissa 《International urology and nephrology》2020,52(12):2403-2414
International Urology and Nephrology - This article updates the qualitative research on Iran reported in the 2012 article by Tong et al. “The experiences of commercial kidney donors: thematic... 相似文献
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