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991.
992.
ATJM Helderman-van den Enden R de Jong JT den Dunnen JJ Houwing-Duistermaat ALJ Kneppers HB Ginjaar MH Breuning and E Bakker 《Clinical genetics》2009,75(5):465-472
The presence of multiple affected offspring from apparently non-carrier parents is caused by germ line mosaicism. Although germ line mosaicism has been reported for many diseases, figures for recurrence risks are known for only a few of them. In X-linked Duchenne and Becker muscular dystrophies (DMD/BMD), the recurrence risk for non-carrier females due to germ line mosaicism has been estimated to be between 14% and 20% (95% confidence interval 3–30) if the risk haplotype is transmitted. In this study, we have analyzed 318 DMD/BMD cases in which the detected mutation was de novo with the aim of obtaining a better estimate of the 'true' number of germ line mosaics and a more precise recurrence risk. This knowledge is essential for genetic counseling. Our data indicate a recurrence risk of 8.6% (4.8–12.2) if the risk haplotype is transmitted, but there is a remarkable difference between proximal (15.6%) (4.1–27.0) and distal (6.4%) (2.1–10.6) deletions. Overall, most mutations originated in the female. Deletions occur more often on the X chromosome of the maternal grandmother, whereas point mutations occur on the X chromosome of the maternal grandfather. In unhaplotyped de novo DMD/BMD families, the risk of recurrence of the mutation is 4.3%. 相似文献
993.
Anna DT Muntingh M Christina van der Feltz-Cornelis Harm WJ van Marwijk Philip Spinhoven Willem JJ Assendelft Margot WM de Waal Leona Hakkaart-van Roijen Herman J Adèr Anton JLM van Balkom 《BMC health services research》2009,9(1):159
Background
Panic disorder (PD) and generalized anxiety disorder (GAD) are two of the most disabling and costly anxiety disorders seen in primary care. However, treatment quality of these disorders in primary care generally falls beneath the standard of international guidelines. Collaborative stepped care is recommended for improving treatment of anxiety disorders, but cost-effectiveness of such an intervention has not yet been assessed in primary care. This article describes the aims and design of a study that is currently underway. The aim of this study is to evaluate effects and costs of a collaborative stepped care approach in the primary care setting for patients with PD and GAD compared with care as usual. 相似文献994.
995.
Nicolaus Kröger Avichai Shimoni Georgia Schilling Rainer Schwerdtfeger Martin Bornhäuser Arnon Nagler Axel R. Zander Marion Heinzelmann Ronald Brand Gösta Gahrton Curly Morris Dietger Niederwieser Theo de Witte 《British journal of haematology》2010,148(2):323-331
From 2002 to 2007, 49 myeloma patients who relapsed following autologous SCT were included in a prospective multicenter trial to determine the efficacy of a reduced melphalan/fludarabine regimen followed by allogeneic SCT from unrelated donors. All patients showed leucocyte and platelet engraftment after a median of 15 and 19 d, respectively. Grade II–IV acute graft- versus -host disease (GvHD) occurred in 25% of patients and 35% had chronic GvHD. Overall response rate at day 100 was 95% including 46% complete remission (CR). Cumulative incidence of non-relapse mortality at 1 year was 25% [95% confidence interval (CI): 13–37%] and was significantly lower for human leucocyte antigen (HLA)-matched compared to -mismatched SCT (10% vs. 53%, P = 0·001). The cumulative incidence of relapse at 3 years was 55% (95% CI: 40–70%). After a median follow up of 43 months, the estimated 5-year progression-free and overall survival rates were 20% and 26% respectively and were significantly better for matched in CR at day 100 (41% vs. 7%, P = 0·04 and 56% vs. 16%, P = 0·02). We conclude that optimal donor selection is mandatory for a low non-relapse mortality and high relapse incidence, which remains a major concern, should be improved by including post-transplant strategies to upgrade remission status. 相似文献
996.
Dayna S. Early Feng Gao Christina Y. Ha Anne Nagler Elizabeth Cole Elizabeth Gorbe Nicola Napoli Reina Armamento-Villareal 《Digestive diseases and sciences》2010,55(10):2965-2970
Background
The impact of estrogen on risk of colorectal neoplasia is uncertain. Carriers of the AA and CA genotype allele of the C4887A polymorphism of the CYP1A1 gene have enhanced estrogen metabolism relative to carriers of the CC genotype. 相似文献997.
Miranda JJ Geelhoed Eric AP Steegers Jan W Koper Elisabeth FC van Rossum Henriette A Moll Hein Raat Henning Tiemeier Albert Hofman Vincent WV Jaddoe 《BMC medical genetics》2010,11(1):39
Background
Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal and early postnatal life. 相似文献998.
Chronic kidney disease in patients with diabetes mellitus type 2 or hypertension in general practice
Victor van der Meer H Petra M Wielders Diana C Grootendorst Joost S de Kanter Yvo WJ Sijpkens Willem JJ Assendelft Jacobijn Gussekloo Friedo W Dekker Ymte Groeneveld 《The British journal of general practice》2010,60(581):884-890
Background
The prevalence and severity of chronic kidney disease (CKD) in primary care patients with diabetes or hypertension is unknown.Aim
To assess the prevalence and severity of CKD in patients with diabetes and hypertension; and identify whether age, sex, diabetes, and hypertension are associated with CKD.Design of study
Cross-sectional survey.Setting
Two Dutch primary health care centres (15 954 enlisted patients).Method
Patients, aged ≥25 years, with known diabetes type 2 (n = 471) or hypertension (n = 960), were selected on 1 October 2006. Initial screening uptake rates were assessed from the electronic patient records, and patients were invited when blood or urine measurements were missing. The presence of albuminuria was determined, glomerular filtration rate estimated, and clinical characteristics extracted.Results
Initial screening uptake rates were 93% and 69% for diabetes and hypertension, respectively, and increased to 97% (n = 455) and 87% (n = 836) after active invitation. The prevalence of CKD was 28% in diabetes and 21% in hypertension only. The presence of diabetes was independently associated with albuminuria (odds ratio [OR] 4.23; 95% confidence interval [CI] = 2.67 to 6.71), but not with decreased estimated GFR (eGFR) (OR 0.75; 95% CI = 0.54 to 1.04). Age showed the strongest association with decreased eGFR (OR 2.73; 95% CI = 2.02 to 3.70).Conclusion
In primary care, more than one-quarter of patients with diabetes and about one-fifth of patients with hypertension have CKD. The high prevalence justifies longitudinal follow-up in order to evaluate whether intensified cardiovascular risk management is beneficial in this primary care population. 相似文献999.
Gijs W Landman Kornelis JJ van Hateren Nanne Kleefstra Klaas H Groenier Rijk OB Gans Henk JG Bilo 《The British journal of general practice》2010,60(572):172-175
Background
The relationship between the degree of glycaemic control and mortality remains an important topic of discussion.Aim
This study aimed to investigate this relationship.Design of study
Prospective cohort study.Setting
Primary care.Method
A total of 1145 patients with type 2 diabetes were enrolled in the Zwolle Outpatient Diabetes project Integrating Available Care (ZODIAC) in 1998. Their survival status was recorded in September 2004. Mortality ratios were calculated using standardised mortality ratios (SMRs). Associations between haemoglobin A1c (HbA1c) levels and mortality were studied with a Cox proportional hazard model. HbA1c levels were studied as continuous and as categorical variables.Results
A total of 335 patients died after a median follow-up period of 5.8 years. The SMR (95% confidence interval [CI]) for total mortality was 1.86 (95% CI = 1.66 to 2.06) and 2.24 (95% CI = 1.91 to 2.61) for cardiovascular mortality. For each 1% increase in HbA1c there was a 21% increase in the hazard ratio for total mortality. When compared with the target HbA1c group (HbA1c 6.5–7%), the group with very poor glycaemic control (HbA1c >9%) had a hazard ratio of 2.21 (95% CI = 1.42 to 3.42) for total mortality. The group with normal glycaemic control (HbA1c <6.5%) had a hazard ratio of 1.00 (95% CI = 0.46 to 2.19) for total mortality.Conclusion
HbA1c level was associated with mortality and this effect seemed largely attributable to patients who were in really poor glycaemic control. The absence of differences in mortality in the groups with lower HbA1c levels supports the position that there is no basis for continually decreasing the therapeutic target HbA1c level in patients with type 2 diabetes mellitus. 相似文献1000.
Leor J Guetta E Feinberg MS Galski H Bar I Holbova R Miller L Zarin P Castel D Barbash IM Nagler A 《Stem cells (Dayton, Ohio)》2006,24(3):772-780
The use of adult stem cells for myocardial tissue repair might be limited in elderly and sick people because their cells are depleted and exhausted. The present study was conducted to explore the potential of human umbilical cord blood (UCB) CD133+ progenitor cells for myocardial tissue repair in a model of extensive myocardial infarction (MI). CD133+ progenitor cells were isolated from newborn UCB. Cells (1.2-2 x 10(6)) or saline (control) was infused intravenously 7 days after permanent coronary artery ligation in athymic nude rats. Left ventricular (LV) function was assessed before and 1 month after infusion by echocardiography. Tracking of human cells was performed by fluorescent in situ hybridization for human X and Y chromosomes or by immunostaining for HLA-DR or HLA-ABC. One month after delivery, LV fractional shortening improved by 42 +/- 17% in cell-treated hearts and decreased by 39 +/- 10% in controls (p = .001). Anterior wall thickness decreased significantly in controls but not in treated hearts. Microscopic examination revealed that the UCB cells were able to migrate, colonize, and survive in the infarcted myocardium. Human cells were identified near vessel walls and LV cavity and were occasionally incorporated into endothelial cells in six of nine cell-treated animals but not in controls. Scar tissue from cell-treated animals was significantly populated with autologous myofibroblasts as indicated by colocalization of HLA-DR and alpha-smooth muscle actin staining. In conclusion, the present work suggests that, after MI, intravenous delivery of human UCB-derived CD133+ cells can produce functional recovery by preventing scar thinning and LV systolic dilatation. 相似文献