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Crohn's disease is a complex disorder, with multiple genetic traits. A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease. The presence of one of these risk alleles confers a 2- to 4-fold increase in the risk of developing Crohn's disease, and the presence of two mutant alleles increases the risk over 20-fold. To facilitate the analysis of these polymorphisms, we developed three LightCycler assays to detect the missense mutations Arg702Trp and Gly908Arg and the frameshift mutation Leu100fsinsC in the NOD2/ CARD15 gene. All three assays can be run simultaneously on one LightCycler using identical cycling parameters. Analysis of 53 DNAs from Crohn's patients helped to identify carriers at allele frequencies similar to other Caucasian populations. The sequencing of such DNAs confirmed the accuracy of the assays. In conclusion, we present three rapid and robust assays to detect the Arg702Trp, the Gly908Arg and the Leu1007fsinsC ins mutations in the NOD2/CARD15 gene [corrected]  相似文献   
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Background Tension-free incisional hernia repair using alloplastic material increasingly replaces conventional repair techniques. This change resulted in a decreased recurrence rate (50% vs. 10%, respectively). Recently, laparoscopic approaches for the intraperitoneal tension-free mesh application have been introduced. The decreased trauma at the incision site and the reduction in wound infections appear to be the main advantages. The aim of the present study was to evaluate the early and long-term complications as well as patients’ contentment. Methods Laparoscopic hernia repair with intraperitoneal polytetrafluroethylene (PTFE) mesh implantation was performed on 62 patients at the Klinikum Grosshadern between 2000 and 2005 (29 males, 33 females age 60.7). Intra- and postoperative complications were registered prospectively and retrospectively analyzed. In addition, 57 patients were evaluated for recurrence, postoperative pain and patient contentment (median follow-up 409 days). Results A low complication rate was observed in our patient collective. One trocar bleeding occurred. Three patients presented with wound hematoma. The recurrence rate was 8% (2/25). Sixty-two percent of the patients were free of complaints postoperatively. Eighty-five percent would once again choose the laparoscopic approach for incisional hernia repair. Conclusion The laparoscopic technique was associated with a low recurrence rate, a small rate of wound infections and high patient comfort. Thus, the laparoscopic approach for mesh implantation appears to be a safe and effective method for the treatment of incisional hernias. The efficiency for laparoscopic intraperitoneal mesh implantation, however, should be further evaluated within a prospectively randomized multicenter trial. M. Stickel and M. Rentsch contributed equally.  相似文献   
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OBJECTIVE: The aim was to establish the potential efficacy, tolerabilityand side-effect profile of electromagnetic therapy as an adjunctto conventional dressings in the treatment of venous leg ulcers. METHOD: A prospective, randomized, double blind controlled clinicaltrial was carried out in a dedicated leg ulcer clinic basedin one urban general practice. Nineteen patients with leg ulcersof confirmed venous aetiology were assessed. The main outcomemeasures were rate and scale of venous leg ulcer healing, changesin patient-reported pain levels, quality of life, degree ofmobility, side effect profile and acceptability to patientsand staff. RESULTS: Sixty-eight per cent of patients attending this dedicated clinicachieved improvements in the size of their ulcer (4, 21%, healedfully) and in reduced pain levels (P < 0.05) during the trial,despite the chronicity of ulcer histories. Patients treatedwith electromagnetic therapy at 800 Hz were found at day 50to have significantly greater healing (P < 0.05) and paincontrol (P < 0.05) than placebo therapy or treatment with600 Hz. All patients reported improved mobility at the end ofthe study. The electromagnetic therapy was well tolerated bypatients, with no differences between groups in reporting adverseevents, and proved acceptable to staff. CONCLUSION: Despite the small numbers in this pilot study, electromagnetictherapy provided significant gains in the healing of venousleg ulcers and reduction in pain. Keywords. Electromagnetic therapy, RCT, leg ulcers, primary care.  相似文献   
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Bile duct calculi in patients with primary sclerosing cholangitis   总被引:1,自引:0,他引:1  
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