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71.
72.
P Rump RC Niessen KT Verbruggen OF Brouwer M de Raad R Hordijk 《Clinical genetics》2011,79(2):183-188
Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome). Opitz–Kaveggia syndrome is a rare X‐linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty‐three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz–Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases. 相似文献
73.
A. R. HUBBARD M. HAMILL M. BEEHARRY S. A. BEVAN A. B. HEATH ON BEHALF OF THE SSC SUB‐COMMITTEE ON VON WILLEBRAND FACTOR OF ISTH 《Journal of thrombosis and haemostasis》2011,9(8):1638-1640
To cite this article: Hubbard AR, Hamill M, Beeharry M, Bevan SA, Heath AB, on behalf of the SSC sub‐committee on von Willebrand factor of ISTH. Value assignment of the WHO 2nd International Standard von Willebrand factor, concentrate (09/182). J Thromb Haemost 2011; 9 : 1638–40.DOI: 10.1111/j.1538‐7836.2011.04365.x . 相似文献
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J. F. LUCÍA J. A. AZNAR L. ABAD‐FRANCH R. R. ESCUIN V. JIMÉNEZ‐YUSTE R. PÉREZ J. BATLLE I. BALDA G. ALPEROVICH R. PARRA ON BEHALF OF THE SPANISH HAEMOPHILIA EPIDEMIOLOGICAL STUDY WORKING GROUP 《Haemophilia》2011,17(1):75-80
Summary. The Spanish Epidemiological Study in Haemophilia carried out in 2006 enrolled 2400 patients [2081–86.7% with haemophilia A (HA) and 319–13.3% with haemophilia B]; 465 of them (19.4%) were on prophylaxis. These rates were higher in patients with severe haemophilia (45.4%) and severe paediatric cases (72.5%). On the basis of information recorded in this study, we analysed the current situation of prophylaxis therapy administered to patients with HA in Spain, as well as their orthopaedic status. Prophylaxis was used in 399 (19.2%) patients with HA; such prophylaxis was primary (PP) in 20.3% and secondary (SP) in 75.9% of cases. Among severe HA patients, 313 (45.9%) were on prophylaxis (22.3% on PP and 74.7% on SP). Taking into account the patients’ age, 34.7% of severe HA adults were on prophylaxis (6% PP and 92.1% SP), whereas 71.5% of severe HA paediatric patients (40.5% PP and 55.4% SP) received this kind of treatment. Established haemophilic arthropathy (EHA) was detected in 142 from 313 severe HA patients (45.3%) on prophylaxis, but only in 2.9% of patients under PP vs. 59% of patients receiving SP. There was no EHA in adult severe HA patient on PP, whereas 70.4% on SP had joint damage (P < 0.00001). Among paediatric severe HA patients, EHA was detected in 3.3% under PP and 37.8% under SP (P < 0.00001). In conclusion, our data suggest that an early initiation of prophylaxis avoids EHA in the long‐term in patients with severe HA. We should emphasize the early onset of prophylaxis regimens. 相似文献
77.
Xiao-Yang Wang Luiz OF Penalva Hongyan Yuan R Ilona Linnoila Jiachun Lu Hideyuki Okano Robert I Glazer 《Molecular cancer》2010,9(1):221
Background
Musashi1 (Msi1) is a conserved RNA-binding protein that regulates the Notch and Wnt pathways, and serves as a stem cell marker in the breast and other tissues. It is unknown how Msi1 relates to other breast cancer markers, whether it denotes tumor initiating cells (TICs), and how it affects gene expression and tumor cell survival in breast cancer cells. 相似文献78.
ENAMEL MATRIX DERIVATIVE FOR PERIODONTAL TISSUE REGENERATION IN INTRABONY DEFECTS . In: THE COCHRANE DATABASE OF SYSTEMATIC REVIEWS ISSUE . 《Journal of Evidence》2005,5(4):234-236
ENAMEL MATRIX DERIVATIVE (EMDOGAIN®) FOR PERIODONTAL TISSUE REGENERATION IN INTRABONY DEFECTS (Cochrane Review). In: THE COCHRANE DATABASE OF SYSTEMATIC REVIEWS, ISSUE 4, 2005.Esposito M, Grusovin MG, Coulthard P, Worthington H
Background
Periodontitis is a chronic infective disease of the gums caused by bacteria present in dental plaque. This condition induces the breakdown of the tooth-supporting apparatus until teeth are lost. Surgery may be indicated to arrest disease progression and regenerate lost tissues. Several surgical techniques have been developed to regenerate periodontal tissues including guided tissue regeneration (GTR), bone grafting (BG), and the use of enamel matrix derivative (EMD). EMD is an extract of enamel matrix and contains amelogenins of various molecular weights. Amelogenins are involved in the formation of enamel and periodontal attachment formation during tooth development.Objectives
The objectives were to test whether EMD is effective, and to compare EMD versus GTR and various BG procedures for the treatment of intrabony defects.Search strategy
We searched the Cochrane OHG Trials Register, Cochrane Central Register of Controlled Trials, MEDLINE, and EMBASE. Several journals were hand searched. No language restrictions were applied. Authors of randomized controlled clinical trials (RCTs) who were identified, personal contacts, and the manufacturer were contacted to identify unpublished trials. The most recent search was May 2005.Selection criteria
Selected studies were RCTs on patients affected by periodontitis having intrabony defects of at least 3 mm treated with EMD compared with open flap debridement, GTR, and various BG procedures with at least 1 year of follow-up. The outcome measures considered were tooth loss, changes in probing attachment levels (PAL), pocket depths (PPD), gingival recessions (REC), bone levels from the bottom of the defects on intraoral radiographs, esthetics, and adverse events. The following time points were to be evaluated: 1, 5, and 10 years.Data collection & analysis
Screening of eligible studies, assessment of the methodological quality of the trials, and data extraction were conducted in duplicate and independently by 2 authors. Results were expressed as random-effects models using mean differences for continuous outcomes and risk ratios (RR) for dichotomous outcomes with 95% confidence intervals (CI). It was decided not to investigate heterogeneity, but a sensitivity analysis for the risk of bias of the trials was performed.Main results
Ten trials were included out of 29 potentially eligible trials. No included trial presented data after 5 years of follow-up, therefore all data refer to the 1-year time point. A meta-analysis including 8 trials showed that EMD-treated sites displayed statistically significant PAL improvements (mean difference 1.2 mm, 95% CI 0.7 to 1.7) and PPD reduction (0.8 mm, 95% CI 0.5 to 1.0) when compared to placebo or control treated sites, although a high degree of heterogeneity was found. Significantly more sites had less than 2 mm PAL gain in the control group, with RR 0.48 (95% CI 0.29 to 0.80). Approximately 6 patients needed to be treated (NNT) to have 1 patient gaining 2 mm or more PAL over the control group, based on a prevalence in the control group of 35%. No differences in tooth loss or esthetic appearance as judged by the patients were observed. When evaluating the only 2 trials at a low risk of bias in a sensitivity analysis, the effect size for PAL was 0.6 mm, which was less than 1.2 mm for the overall result. Comparing EMD with GTR (5 trials), GTR showed a statistically significant increase of REC (0.4 mm) and significantly more postoperative complications. No trials were found comparing EMD with BG.Reviewers' conclusions
One year after its application, EMD significantly improved PAL levels (1.2 mm) and PPD reduction (0.8 mm) when compared to a placebo or control, however, the high degree of heterogeneity observed among trials suggests that results have to be interpreted with great caution. In addition, a sensitivity analysis indicated that the overall treatment effect might be overestimated. The actual clinical advantages of using EMD are unknown. With the exception of significantly more postoperative complications in the GTR group, there was no evidence of clinically important differences between GTR and EMD.Abstract
INTERVENTIONS FOR REPLACING MISSING TEETH: DENTAL IMPLANTS IN ZYGOMATIC BONE FOR THE REHABILITATION OF THE SEVERELY DEFICIENT EDENTULOUS MAXILLA (Cochrane Review). In: THE COCHRANE DATABASE OF SYSTEMATIC REVIEWS, ISSUE 4, 2005.Esposito M, Worthington HV, Coulthard PBackground
Dental implants are used for replacing missing teeth. Placing dental implants is limited by the presence of adequate bone volume permitting their anchorage. Several bone-augmentation procedures have been developed to solve this problem. Zygomatic implants are long screw-shaped implants developed as a partial or complete alternative to bone augmentation procedures for the severely atrophic maxilla. One to 3 zygomatic implants can be inserted through the posterior alveolar crest and maxillary sinus to engage the body of the zygomatic bone. A couple of conventional dental implants are also needed in the frontal region of the maxilla to stabilize the prosthesis. The potential main advantages of zygomatic implants could be that in some situations bone grafting may not be needed and a fixed denture could be fitted sooner. Another specific indication for using zygomatic implants could be the need for maxillary reconstruction after maxillectomy in cancer patients.Objectives
The objective was to test the hypothesis of no difference in outcomes between zygomatic implants with and without bone-augmenting procedures in comparison with conventional dental implants in augmented bone for severely resorbed maxillae.Search strategy
We searched the Cochrane Oral Health Group's Trial Register, Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and EMBASE. We hand searched several dental journals. No language restrictions were applied. Personal contacts and all known zygomatic implant manufacturers were contacted to identify unpublished trials. The most recent search was May 2005.Selection criteria
Studies selected were randomized controlled clinical trials (RCTs) that included patients with severely resorbed maxillae who could not be rehabilitated with conventional dental implants and were treated with zygomatic implants with and without bone grafts versus patients treated with conventional dental implants in conjunction with bone-augmentation procedures having a follow-up of at least 1 year. Outcome measures considered were prosthesis and implant failures, side effects, patient satisfaction, and cost-effectiveness.Data collection & analysis
Screening of eligible studies, assessment of the methodological quality of trials, and data extraction were to be conducted in duplicate and independently by 2 authors. Results were to be expressed as random-effects models using weighted mean differences for continuous outcomes and risk ratio for dichotomous outcomes with 95% confidence intervals. Heterogeneity was to be investigated including both clinical and methodological factors.Main results
No RCTs or controlled clinical trials (CCTs) were identified.Reviewers' conclusions
There is the need for RCTs in this area to assess whether zygomatic implants offer some advantages over alternative bone-augmentation techniques for treating atrophic maxillae. 相似文献79.
80.
P. KNOEBL P. MARCO F. BAUDO P. COLLINS A. HUTH‐KüHNE L. NEMES F. PELLEGRINI L. TENGBORN H. LéVESQUE ON BEHALF OF THE EACH REGISTRY CONTRIBUTORS 《Journal of thrombosis and haemostasis》2012,10(4):622-631
Summary. Background: Acquired hemophilia A (AHA) is a rare autoimmune disease caused by autoantibodies against coagulation factor VIII and characterized by spontaneous hemorrhage in patients with no previous family or personal history of bleeding. Although data on several AHA cohorts have been collected, limited information is available on the optimal management of AHA. Objectives: The European Acquired Hemophilia Registry (EACH2) was established to generate a prospective, large‐scale, pan‐European database on demographics, diagnosis, underlying disorders, bleeding characteristics, treatment and outcome of AHA patients. Results: Five hundred and one (266 male, 235 female) patients from 117 centers and 13 European countries were included in the registry between 2003 and 2008. In 467 cases, hemostasis investigations and AHA diagnosis were triggered by a bleeding event. At diagnosis, patients were a median of 73.9 years. AHA was idiopathic in 51.9%; malignancy or autoimmune diseases were associated with 11.8% and 11.6% of cases. Fifty‐seven per cent of the non‐pregnancy‐related cases were male. Four hundred and seventy‐four bleeding episodes were reported at presentation, and hemostatic therapy initiated in 70.5% of patients. Delayed diagnosis significantly impacted treatment initiation in 33.5%. Four hundred and seventy‐seven patients underwent immunosuppression, and 72.6% achieved complete remission. Conclusions: Representing the largest collection of consecutive AHA cases to date, EACH2 facilitates the analysis of a variety of open questions in AHA. 相似文献