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排序方式: 共有2309条查询结果,搜索用时 15 毫秒
1.
Emmi Helle Aldo Córdova-Palomera Tiina Ojala Priyanka Saha Praneetha Potiny Stefan Gustafsson Erik Ingelsson Michael Bamshad Deborah Nickerson Jessica X. Chong University of Washington Center for Mendelian Genomics Euan Ashley James R. Priest 《Genetic epidemiology》2019,43(2):215-226
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes. 相似文献
2.
顺铂聚乳酸微球的药物释放特性及肝动脉栓塞研究 总被引:5,自引:0,他引:5
对顺铂聚乳酸微球进行了体外药物释放和家犬肝动脉栓塞研究。该微球粒径范围为50~200μm,平均粒径为115.76±35.94μm,顺铂含量为37.16%(W/W);体外药物释放机制符合Higuchi方程;肝动脉栓塞后8h,肝组织顺铂浓度高达21.55±12.18μg/g,明显高于肝动脉灌注顺铂组:3.16±0.09μg/g(P<0.05);肝动脉栓塞组的顺铂血浓峰值、各取血点浓度及曲线下面积AUC皆低于肝动脉灌注顺铂组。可望达到提高栓塞部位的药物疗效,降低全身毒副反应的作用。 相似文献
3.
Denise Lynn Schilling Kathleen Washington Felix F Billingsley Jean Deitz 《The American journal of occupational therapy》2003,57(5):534-541
OBJECTIVE: The purpose of this study was to investigate the effects of therapy balls as seating on in-seat behavior and legible word productivity of students with attention deficit hyperactivity disorder (ADHD). Additionally, social validity was assessed to evaluate teacher and student opinions regarding the intervention. METHOD: A single subject, A-B-A-B interrupted time series design was employed across 3 students (2 males, 1 female) with ADHD. The study was conducted in a 4th grade inclusive classroom during daily language arts. During phases 1 and 3, the 3 participants and all other class members sat on chairs (in-seat on chair); during phases 2 and 4, everyone sat on therapy balls (in-seat on ball). Dependent variables were in-seat behavior and legible word productivity. Data were graphed and visually analyzed for differences between phases. RESULTS: Results demonstrated increases in in-seat behavior and legible word productivity for the students with ADHD when seated on therapy balls. Social validity findings indicated that generally the teacher and students preferred therapy balls. CONCLUSION: This study provides evidence that use of therapy balls for students with ADHD may facilitate in-seat behavior and legible word productivity. 相似文献
4.
Digital radiography of subtle pulmonary abnormalities: an ROC study of the effect of pixel size on observer performance 总被引:3,自引:0,他引:3
Forty conventional radiographs with examples of mild interstitial infiltrates and subtle pneumothoraces and 40 normal studies of the chest were selected and digitized, with pixel sizes of 1.0, 0.5, 0.2, and 0.1 mm. Observer performance tests were carried out using receiver operating characteristic analysis. Conventional radiographs and digitized images were compared. The results indicate that, in such cases, diagnostic accuracy increases significantly as the pixel size is reduced, at least to the 0.1-mm level. We conclude that, for digital systems using screen-film or similar image receptors, use of a pixel size substantially larger than 0.1 mm may result in some loss of diagnostic accuracy. 相似文献
5.
FREDERIC W-B. DELEYIANNIS MD MPhil MPH DAVID B. THOMAS MD DrPH From the Departments of Otolaryngology–Head Neck Surgery Epidemiology University of Washington Seattle; the Division of Public Health Science Fred Hutchinson Cancer Research Center. 《Otolaryngology--head and neck surgery》1997,116(6):630-636
A cohort of 5180 patients with head and neck cancer, who were part of the tumor registry of the Surveillance, Epidemiology, and End Results area of western Washington State, was followed up for as many as 15 years to determine the risk of lung cancer. A sample of 522 patients from this cohort was interviewed to determine smoking history. Lung cancer developed in 356 (6.9%) of the 5180 patients. The overall annual incidence of lung cancer remained relatively constant between approximately 1.0% and 2.0% during the 15 years of follow-up. Men had an increased risk of lung cancer compared with women (relative risk [RR] = 1.56; 95% confidence interval [CI] = 1.18 to 2.03). Compared with patients with oral cavity cancer (RR = 1.00), the relative risk of lung cancer developing by the site of the index tumor was 0.63 (95% CI = 0.40 to 0.98) for lip, 1.12 (95% CI = 0.81 to 1.56) for intrinsic larynx, 1.73 (95% CI = 1.21 to 2.47) for oropharynx, 1.84 (95% CI = 1.16 to 2.92) for hypopharynx, and 2.28 (95% CI = 1.60 to 3.24) for extrinsic larynx. Among the 522 patients who were interviewed, men smoked more than women ( p < 0.0001), and patients with laryngeal or pharyngeal cancer smoked more than patients with cancer of the lip or the oral cavity ( p < 0.05). Among patients with head and neck cancer, the risk of lung cancer is highest for men and for patients with cancer of the pharynx or extrinsic larynx. These findings may be explained by differences in smoking consumption. (Otolaryngol Head Neck Surg 1997;116:630-6.) 相似文献
6.
Irregularly shaped small shadows on chest radiographs, dust exposure, and lung function in coalworkers' pneumoconiosis. 下载免费PDF全文
H P Collins J A Dick J G Bennett P O Pern M A Rickards D J Thomas J S Washington M Jacobsen 《Occupational and environmental medicine》1988,45(1):43-55
The predominant shapes of small opacities on the chest radiographs of 895 British coalminers have been studied. The aims were to determine whether irregular (as distinct from rounded) small opacities can be identified reproducibly, whether their occurrence is related to dust exposure, and whether they are associated with excess prevalence of respiratory symptoms or impairments of lung function. Six of the doctors responsible for regular radiological surveys of all British coalminers each classified all 895 radiographs twice and independently, using the International Labour Organisation's 1980 classification system. The majority view was that 39 films showed predominantly irregular small opacities, 131 showed predominantly small rounded opacities, and 587 showed no small opacities. Readers' opinions varied about the presence and shapes of shadows on the other 138 films. In general, consistency between readers (and within readers on repeated viewings) was satisfactory. The occurrence and profusion of irregular shadows were related significantly both to the men's ages and additionally to their cumulative exposure to respirable coalmine dust as determined from 15 years' dust monitoring close to where the miners had worked. For any given level of exposure, the average level of profusion of the small irregular opacities was less than the corresponding profusion of small rounded opacities. The prevalence rates of chronic cough and phlegm, and of breathlessness, were higher in those with small irregular opacities than in those with no small opacities (category 0/0), but the differences were not statistically significant after adjustment for other factors including smoking habits. The presence of irregular (but not rounded) small shadows was associated with an impairment in respiratory function averaging about 190 ml deficits in both FEV1 and FVC. These deficits were not explicable in terms of the men's ages, body sizes, and smoking habits and they were in addition to the lung function losses attributable to the miners' dust exposure as such. It is concluded that the presence and profusion of small irregular opacities should be taken into consideration when assessing the severity of coalworkers' simple pneumoconiosis. 相似文献
7.
Background. Although it has been established that basal cell carcinoma is an uncommon diagnosis in black patients, the morpheaform subtype is very rare among these individuals.
Objective. The objective is to present two cases of morpheaform basal cell carcinoma in African-American patients.
Methods. This is a case series and a literature review using the Ovid Medline Database. Key words used in the search include "basal cell carcinoma,""African American,""black,""African,""negros,""morpheaform,""sclerosing,""fibrosing," and "scar-like basal cell carcinoma." The Ovid Medline Database was searched from 1966 to present and was restricted to the English language.
Results. A review of the Emory Dermatology clinic charts from 1989 to 2004 revealed two black patients with morpheaform basal cell carcinomas.
Conclusions. Although extremely rare, morpheaform pattern basal cell carcinoma must be considered in the differential diagnosis for black patients presenting with nonhealing lesions. 相似文献
Objective. The objective is to present two cases of morpheaform basal cell carcinoma in African-American patients.
Methods. This is a case series and a literature review using the Ovid Medline Database. Key words used in the search include "basal cell carcinoma,""African American,""black,""African,""negros,""morpheaform,""sclerosing,""fibrosing," and "scar-like basal cell carcinoma." The Ovid Medline Database was searched from 1966 to present and was restricted to the English language.
Results. A review of the Emory Dermatology clinic charts from 1989 to 2004 revealed two black patients with morpheaform basal cell carcinomas.
Conclusions. Although extremely rare, morpheaform pattern basal cell carcinoma must be considered in the differential diagnosis for black patients presenting with nonhealing lesions. 相似文献
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Gamma scintigraphy was used in twelve healthy volunteers to establish whether the time of dosing of Liquid Gaviscon relative to a meal influenced its therapeutic action. Indium-113m labelled Liquid Gaviscon was administered to fasted subjects, 30 min after a technetium-99m labelled meal or immediately before ingestion of the meal. The time for 50% of the Gaviscon to empty from the stomach was 0.36 +/- 0.13 h, 3.10 +/- 0.31 h and 0.68 +/- 0.04 h (s.e.m.), respectively. The preparation was found to empty rapidly from the fasted stomach and could not be floated on a meal consumed subsequently. For raft formation to occur, Liquid Gaviscon should be taken 30 min after a meal. 相似文献