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101.
A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing 下载免费PDF全文
102.
Blair S. Grace Philip A. Clayton Nicholas A. Gray Stephen P. McDonald 《Clinical journal of the American Society of Nephrology》2014,9(5):929-935
Background and objectives
Home dialysis creates fewer lifestyle disruptions while providing similar or better outcomes than in-center hemodialysis. Socioeconomically advantaged patients are more likely to commence home dialysis (peritoneal dialysis and home hemodialysis) in many developed countries. This study investigated associations between socioeconomic status and uptake of home dialysis in Australia, a country with universal access to health care and comparatively high rates of home dialysis.Design, setting, participants, & measurements
This study analyzed 23,281 non-Indigenous adult patients who commenced chronic RRT in Australia from 2000 to 2011 according to the Australia and New Zealand Dialysis and Transplant Registry in a retrospective cohort study. This study investigated the proportion of patients who were ever likely to use home dialysis using nonmixture cure models and followed patients until the end of 2011 (median follow-up time=3.0 years, interquartile range=1.3–5.5 years). The main predictor was area socioeconomic status from postcodes grouped into quartiles using standard indices.Results
Patients from the most advantaged quartile of areas were less likely to commence peritoneal dialysis (odds ratio, 0.63; 95% confidence interval, 0.58 to 0.69) and more likely to use in-center hemodialysis than patients from the most disadvantaged areas (odds ratio, 1.19; 95% confidence interval, 1.10 to 1.30). Socioeconomic status was not associated with uptake of home hemodialysis. Rural areas were more disadvantaged and had higher rates of peritoneal dialysis, and privately funded hospitals rarely used home dialysis. Patients from the most advantaged quartile of areas were more likely to use private hospitals than patients from the most disadvantaged quartile (odds ratio, 5.9; 95% confidence interval, 4.6 to 7.5).Conclusion
The lower incidence of peritoneal dialysis among patients from advantaged areas seems to be multifactorial. Identifying and addressing barriers to home dialysis in Australia could improve patient quality of life and reduce costs. 相似文献103.
Kim Brandes Phyllis N. Butow Martin H.N. Tattersall Josephine M. Clayton Patricia M. Davidson Jane Young Ronald M. Epstein Adam Walczak 《Patient education and counseling》2014
Objective
The objective of this study was to provide insight into how advanced cancer patients and their caregivers use a Question Prompt List (QPL) during a consultation and for preparation for future consultations.Methods
Audiotaped consultations and follow-up phone calls of 28 advanced cancer patients were coded and content analyzed. Questions asked and concerns expressed in consultations were coded for initiator, content, inclusion in the QPL and exact wording. Patients’ reported and future use of the QPL were coded from the phone calls.Results
The majority of patients reported that they used the QPL. Questions asked by patients and caregivers predominately coincided with questions from the prognosis section of the QPL. Questions were rarely asked literally from the QPL, instead questions were tailored to patients’ own circumstances.Conclusion
QPLs are useful to stimulate discussion on prognosis among advanced cancer patients and caregivers. Patients tailored questions from the QPL to their own circumstances which may suggest high involvement and engagement. The development of more specific tailored communication interventions for advanced cancer patients is warranted.Practice implications
Implementation of QPLs in the advanced cancer setting may be beneficial for patients, caregivers and healthcare providers to facilitate discussion of topics such as prognosis. 相似文献104.
105.
106.
Kopek BG Shtengel G Xu CS Clayton DA Hess HF 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(16):6136-6141
Microscopic images of specific proteins in their cellular context yield important insights into biological processes and cellular architecture. The advent of superresolution optical microscopy techniques provides the possibility to augment EM with nanometer-resolution fluorescence microscopy to access the precise location of proteins in the context of cellular ultrastructure. Unfortunately, efforts to combine superresolution fluorescence and EM have been stymied by the divergent and incompatible sample preparation protocols of the two methods. Here, we describe a protocol that preserves both the delicate photoactivatable fluorescent protein labels essential for superresolution microscopy and the fine ultrastructural context of EM. This preparation enables direct 3D imaging in 500- to 750-nm sections with interferometric photoactivatable localization microscopy followed by scanning EM images generated by focused ion beam ablation. We use this process to "colorize" detailed EM images of the mitochondrion with the position of labeled proteins. The approach presented here has provided a new level of definition of the in vivo nature of organization of mitochondrial nucleoids, and we expect this straightforward method to be applicable to many other biological questions that can be answered by direct imaging. 相似文献
107.
AJ Geall A Verma GR Otten CA Shaw A Hekele K Banerjee Y Cu CW Beard LA Brito T Krucker DT O'Hagan M Singh PW Mason NM Valiante PR Dormitzer SW Barnett R Rappuoli JB Ulmer CW Mandl 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(36):14604-14609
Despite more than two decades of research and development on nucleic acid vaccines, there is still no commercial product for human use. Taking advantage of the recent innovations in systemic delivery of short interfering RNA (siRNA) using lipid nanoparticles (LNPs), we developed a self-amplifying RNA vaccine. Here we show that nonviral delivery of a 9-kb self-amplifying RNA encapsulated within an LNP substantially increased immunogenicity compared with delivery of unformulated RNA. This unique vaccine technology was found to elicit broad, potent, and protective immune responses, that were comparable to a viral delivery technology, but without the inherent limitations of viral vectors. Given the many positive attributes of nucleic acid vaccines, our results suggest that a comprehensive evaluation of nonviral technologies to deliver self-amplifying RNA vaccines is warranted. 相似文献
108.
Jacques Banchereau Sandra Zurawski LuAnn Thompson-Snipes Jean-Philippe Blanck Sandra Clayton Adiel Munk Yanying Cao Zhiqing Wang Sunaina Khandelwal Jiancheng Hu William H. McCoy IV Karolina A. Palucka Yoram Reiter Daved H. Fremont Gerard Zurawski Marco Colonna Andrey S. Shaw Eynav Klechevsky 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(46):18885-18890
109.
Damman P Wallentin L Fox KA Windhausen F Hirsch A Clayton T Pocock SJ Lagerqvist B Tijssen JG de Winter RJ 《Circulation》2012,125(4):568-576
110.
Toze CL Dalal CB Nevill TJ Gillan TL Abou Mourad YR Barnett MJ Broady RC Forrest DL Hogge DE Nantel SH Power MM Song KW Sutherland HJ Smith CA Narayanan S Young SS Connors JM Shepherd JD 《British journal of haematology》2012,158(2):174-185
The curative potential of allogeneic haematopoietic stem cell transplant (allo HSCT) in chronic lymphocytic leukaemia CLL is established, with a demonstrated role for graft-versus-leukaemia and less certainty for other factors in determining outcome. The first two decades of CLL patients proceeding to allo HSCT at the Leukaemia/Bone Marrow Transplant Program of British Columbia (n = 49 consecutive, 1991-2009) were studied to clarify factors predicting outcome. The donor was related in 29 (59%) and unrelated in 20 (41%). Conditioning was reduced-intensity in 27 (55%) and myeloablative in 22 (45%). Thirty-one of 49 patients survive with median follow-up of 5 years (0·2-15). Cumulative incidence of non-relapse mortality; complete remission (CR); clearance of fluorescence in situ hybridization (FISH) abnormality and progression at 10 years was 36%; 69%; 55% and 22%. Overall survival (OS) was 63% at 2 years; 55% at 5 years and beyond. Factors predicting OS (P value by log rank <0·05) were: comorbidity index <3, FISH rank (Dohner) and 17p deletion, alemtuzumab pre-HSCT, achievement of CR post-HSCT, donor chimerism >90%, clearance of FISH abnormality post-HSCT and absence of high-grade (3-4) graft-versus-host disease. Results from this province-wide, two-decade cohort demonstrated that a substantial proportion of patients with high-risk CLL become long term disease-free survivors. 相似文献