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51.
Bjarnason T Montgomery A Hlebowicz J Lindstedt S Petersson U 《World journal of surgery》2011,35(4):917-923
Background
Topical negative pressure (TNP) therapy is increasingly used in open abdomen management. It is not known to what extent this pressure propagates through the dressing to the bowel surface, potentially increasing the risk of bowel fistula formation. The present study in a porcine model was designed to evaluate pressure propagation. 相似文献52.
53.
Rujescu D Ingason A Cichon S Pietiläinen OP Barnes MR Toulopoulou T Picchioni M Vassos E Ettinger U Bramon E Murray R Ruggeri M Tosato S Bonetto C Steinberg S Sigurdsson E Sigmundsson T Petursson H Gylfason A Olason PI Hardarsson G Jonsdottir GA Gustafsson O Fossdal R Giegling I Möller HJ Hartmann AM Hoffmann P Crombie C Fraser G Walker N Lonnqvist J Suvisaari J Tuulio-Henriksson A Djurovic S Melle I Andreassen OA Hansen T Werge T Kiemeney LA Franke B Veltman J 《Human molecular genetics》2009,18(5):988-996
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European populations (Iceland, Finland, Norway, Germany, The Netherlands, Italy and UK) using microarray data. We found 66 deletions and 5 duplications in NRXN1, including a de novo deletion: 12 deletions and 2 duplications occurred in schizophrenia cases (0.47%) compared to 49 and 3 (0.15%) in controls. There was no common breakpoint and the CNVs varied from 18 to 420 kb. No CNVs were found in NRXN2 or NRXN3. We performed a Cochran-Mantel-Haenszel exact test to estimate association between all CNVs and schizophrenia (P = 0.13; OR = 1.73; 95% CI 0.81-3.50). Because the penetrance of NRXN1 CNVs may vary according to the level of functional impact on the gene, we next restricted the association analysis to CNVs that disrupt exons (0.24% of cases and 0.015% of controls). These were significantly associated with a high odds ratio (P = 0.0027; OR 8.97, 95% CI 1.8-51.9). We conclude that NRXN1 deletions affecting exons confer risk of schizophrenia. 相似文献
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55.
Olafsdottir OB Hardarson SH Gottfredsdottir MS Harris A Stefánsson E 《Investigative ophthalmology & visual science》2011,52(9):6409-6413
PURPOSE. To determine whether retinal vessel oxygen saturation is affected in primary open-angle glaucoma (POAG) patients. METHODS. Retinal oxygen saturation in patients with POAG was measured in retinal vessels with a spectrophotometric retinal oximeter in darkness, and visual fields were obtained. Oxygen tension (Po(2)) was calculated from oxygen saturation values. Statistical analysis was performed using Pearson's correlation and Student's t-test. RESULTS. Mean oxygen saturation in venules was higher in persons with poor visual fields (68% ± 4%, mean ± SD) than in those with good visual fields (62% ± 3%; P = 0.0018). The mean arteriovenous difference in oxygen saturation was lower in persons with poor visual fields (30% ± 4%, n = 9) than in those with good visual fields (37% ± 4%; P = 0.0003; n = 12). No correlation was found between saturation in retinal arterioles and visual field mean defect (n = 31; r = -0.16; P = 0.38). Oxygen saturation in retinal venules correlated positively with worsening visual field mean defect (r = 0.43; P = 0.015). Arteriovenous difference in oxygen saturation decreased significantly as the visual field mean defect worsened (r = -0.55; P = 0.0013). Mean Po(2) in venules was 38 ± 3 mm Hg. It was significantly higher in persons with poor visual field fields (40 ± 3 mm Hg) than in those with good visual fields (36 ± 2 mm Hg; P = 0.0016). CONCLUSIONS. Deeper glaucomatous visual field defects are associated with increased oxygen saturation in venules and decreased arteriovenous difference in retinal oxygen saturation. The data suggest that oxygen metabolism is affected in the glaucomatous retina, possibly related to tissue atrophy. 相似文献
56.
The association between glucose abnormalities and heart failure in the population-based Reykjavik study 总被引:9,自引:0,他引:9
Thrainsdottir IS Aspelund T Thorgeirsson G Gudnason V Hardarson T Malmberg K Sigurdsson G Rydén L 《Diabetes care》2005,28(3):612-616
OBJECTIVE: Diabetes is an independent risk factor for heart failure, whereas the relation between heart failure and abnormal glucose regulation (AGR) needs further evaluation. We studied this combination in the Reykjavik Study. RESEARCH DESIGN AND METHODS: The Reykjavik Study, a population-based cohort study during 1967-1997, recruited 19,381 participants aged 33-84 years who were followed until 2002. Oral glucose tolerance tests and chest X-rays were obtained from all participants. Cases were defined in accordance with World Health Organization criteria for type 2 diabetes or AGR (impaired glucose tolerance or impaired fasting glucose) and European Society of Cardiology guidelines for heart failure. RESULTS: The overall prevalence of type 2 diabetes and heart failure was 0.5% in men and 0.4% in women, while AGR and heart failure were found in 0.7% of men and 0.6% of women. Among participants with normal glucose regulation, heart failure was diagnosed in 3.2% compared with 6.0 and 11.8% among those with AGR and type 2 diabetes, respectively. The prevalence of type 2 diabetes in the age-group 45-65 years increased in both sexes during the period (P for trend = 0.007). The odds ratio was 2.8 (95% CI 2.2-3.6) for the association between type 2 diabetes and heart failure and 1.7 (1.4-2.1) between AGR and heart failure. CONCLUSIONS: There is a strong association between any form of glucometabolic perturbation and heart failure. Future studies in this field should focus on all types of glucose abnormalities rather than previously diagnosed diabetes only. 相似文献
57.
BACKGROUND: In order to decrease multiple birth rates without decreasing birth rates overall, it is important to increase the capability of selecting the most optimal embryos for transfer. It has been shown that human embryos which cleave early, i.e. complete the first mitotic division within 25-27 h post insemination, provide higher pregnancy and implantation rates. METHODS AND RESULTS: In this prospective study, an evaluation of 10 798 scored embryos showed that early cleavage resulted in a significantly higher proportion of good quality embryos compared with late cleavage (62.5 versus 33.4%, P < 0.0001). When examining both day 2 and day 3 transfers together, early-cleaving embryos (306 transfers) gave rise to significantly higher rates of pregnancy/transfer (40.5 versus 31.3%, P = 0.0049), implantation (28.0 versus 19.5%, P = 0.0001) and birth/ongoing pregnancy (34.3 versus 24.0%, P = 0.0009) than did late-cleaving embryos (521 transfers). A stepwise logistic regression of all data showed that the total number of good quality embryos and female age were independent predictors of both pregnancies and birth. For intracytoplasmic sperm injection (ICSI) embryos, early cleavage was found to be an independent predictor of birth. CONCLUSIONS: Early embryo cleavage is a strong biological indicator of embryo potential, and may be used as an additional embryo selection factor for ICSI embryos. 相似文献
58.
59.
Karim F. Damji Harkaran S. Bains Einar Stefansson Margaret Loftsdottir Thordur Sverrisson Eirikur Thorgeirsson 《Ophthalmic genetics》2013,34(4):175-185
Pseudoexfoliation (PEX) syndrome is the commonest identifiable cause of open-angle glaucoma worldwide. PEX is characterized clinically by small whitish deposits of fibrillar-granular material in the anterior segment of the eye. Despite its prevalence and potential for ophthalmic morbidity, surprisingly little is known about the etiology and pathogenesis of PEX. This article reviews the literature and presents evidence regarding genetic and nongenetic arguments for the etiology of pseudoexfoliation. Lines of evidence that support a genetic basis for PEX include transmission in two-generation families, twin studies, an increased risk of PEX in relatives of affected patients, and HLA studies. Nearly all pedigrees in the literature, and our own experience with PEX families in Iceland and Canada, suggest maternal transmission, raising the possibilities of mitochondrial inheritance, X-linked inheritance, and autosomal inheritance with genomic imprinting. A number of nongenetic factors have also been evaluated for their possible implication in the development of PEX. These include ultraviolet light, autoimmunity, slow virus infection, and trauma. It is possible that a combination of genetic and nongenetic factors may be involved in the etiology and pathogenesis of PEX, i.e. it may be a multifactorial disorder. Further studies with larger numbers of patients are needed to delineate more clearly the contribution of genetic (nuclear DNA, mitochondrial DNA or both) and nongenetic factors to the development of pseudoexfoliation syndrome and pseudoexfoliation glaucoma. 相似文献
60.
Thoroddsen A Einarsson GV Hardarson S Petursdottir V Magnusson J Jonsson E Gudbjartsson T 《Scandinavian journal of urology and nephrology》2008,42(2):121-125
OBJECTIVE: Renal cell carcinoma (RCC) is primarily a disease of the elderly, most patients being diagnosed in their mid-60s. However, a significant number of patients are diagnosed at a younger age. The true effect of age at diagnosis on survival has been debated, tumor stage and grade being the strongest prognostic factors of survival. The aim of this nationwide study was to study the significance of young age at diagnosis as a prognostic factor in RCC. MATERIAL AND METHODS: This retrospective study included all living patients with histologically verified RCC in Iceland diagnosed between 1971 and 2000 (n = 629). Different clinicopathological factors of patients diagnosed aged < 50 years (n = 99) were compared to those of patients diagnosed aged > or = 50 years (n = 530). Disease-specific survival was compared and multivariate analysis was used to evaluate prognostic variables. RESULTS: Clinical presentation, TNM stage, grade, tumor size and histological subtypes were comparable between the two groups. Prognostic factors were the same in both groups, most of them having a stronger prognostic value in younger patients. Both 5- and 10-year disease-specific survival was significantly higher in the younger group (66.4% vs 54.5% at 5 years). CONCLUSIONS: The clinicopathological profiles are comparable in RCC patients aged < and > or = 50 years. The reason for the more favorable survival of younger patients is not known. Further studies are needed, including studies on possible differences in age-specific host-tumor response. 相似文献