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排序方式: 共有402条查询结果,搜索用时 0 毫秒
1.
Pardono E van Bever Y van den Ende J Havrenne PC Iughetti P Maestrelli SR Costa F O Richieri-Costa A Frota-Pessoa O Otto PA 《American journal of medical genetics. Part A》2003,(3):223-235
Here we present the results of a study performed on 59 patients affected by Waardenburg syndrome (WS), 30 with the I variant, 21 having the type II, and 8 of them being isolated cases without telecanthus. These patients belong to 37 families; the main contributions and conclusions are based on the detailed study of 25 of these families, examined using standard procedures. All patients were examined as to the presence of eight cardinal signs important for the diagnosis of the condition; from each patient, from many of his/her normal relatives, and from a control sample of 300 normal individuals stratified by age and sex, 23 different craniofacial measurements were obtained. We also estimated, using our own data as well those collected from the literature, the frequencies of the cardinal signs, based on a total sample of 461 affected individuals with WSI and 121 with WSII. In order to originate discriminant functions to separate individuals affected by one of the two variants, both metric (from craniofacial measurements) as well as categoric data (based on the frequencies of the cardinal signs or symptoms) were used. Discriminant analysis based on the frequency of the eight cardinal signs can improve the separation of WSI patients without telecanthus from those presenting the variant II. We present also a Table with the conditional probabilities favoring the diagnosis of WSI for suspect subjects without telecanthus and any combination of the other seven signs/symptoms. The discriminant function based on the four ocular measurements (inner and outer intercanthal, interpupillary, and inferior lacrymal distances), on the other side, perfectly classifies patients affected by one of the variants of WS, the same taking place when the average values of the W index of all affected individuals per family are used. The discriminant function based solely in the individual W index values of patients correctly classifies 93% of WSII subjects, but only 60% of the patients with the I variant of WS. 相似文献
2.
Rooms L Reyniers E van Luijk R Scheers S Wauters J Ceulemans B Van Den Ende J Van Bever Y Kooy RF 《Human mutation》2004,23(1):17-21
Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtelomeric aberrations using multiplex ligation-dependent probe amplification (MLPA). This recently developed technique is based on PCR amplification of ligated probes hybridized to chromosome ends. Currently, 41 telomeres can be screened in just two multiplex reactions. Four subtelomeric rearrangements (5.3%) were detected in a group of 75 patients with mild to severe mental retardation in combination with dysmorphic features and/or a familial history of mental retardation: two terminal 1p deletions, a terminal 1q deletion, and a terminal 3p deletion. Deletions could be verified by FISH and marker analysis. In one case the MLPA indicated a terminal 21q deletion due to a 3-bp deletion at the site of the probe, giving a false-positive rate of 1.3%. This study demonstrates that MLPA is a fast and reliable screening method, potentially suitable for use in routine diagnostics. 相似文献
3.
Dominique Rey Maria-Patrizia Carrieri Bruno Spire Sandrine Loubière Pierre Dellamonica Hervé Gallais Gilles-Patrice Cassuto Jean-Albert Gastaut Yolande Obadia the MANIF Study Group 《Journal of urban health》2004,81(1):48-57
The last international consensus conference about hepatitis C virus (HCV) treatment emphasized the importance of treatment
for persons coinfected with HCV and human immunodeficiency virus (HIV). As liver biopsy precedes treatment, we aimed to identify
factors associated with the performance of liver biopsy among HIV-HCV coinfected drug users during a 5-year follow-up to study
their access to HCV treatment. Of the 296 patients followed in the HIV hospital departments of Nice and Marseilles and with
retrievable records about HCV diagnosis and care, 166 were eligible for analysis having had detectable HCV RNA at least once
during the study period. Overall, 45.2% of patients underwent liver biopsy during follow-up. Using proportional hazard models,
predictors of having had a liver biopsy were high social support, complete abstinence from drug injection, and lack of immunosuppression
as well as male gender, no history of multiple incarcerations, more recent onset of drug use, and an increase of liver enzyme
levels. These results suggest that specific efforts should be devoted to HIV-HCV coinfected drug users to assist with stabilizing
these patients to optimize their access to HCV care whenever possible.
The MANIF 2000 study group includes C. Boirot, A. D. Bouhnik, M. P. Carrieri, J. P. Cassuto, M. Chesney, P. Dellamonica, P.
Dujardin, S. Duran, J. G. Fuzibet, H. Gallais, J. A. Gastaut, G. Lepeu, D. A. Loundou, C. Marimoutou, D. Mechali, J. P. Moatti,
J. Moreau, M. Nègre, Y. Obadia, I. Poizot-Martin, C. Pradier, D. Rey, C. Rouzioux, A. Sobel, B. Spire, F. Trémolières, and
D. Vlahov. 相似文献
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Impaired Quality of Life 5 Years After Bile Duct Injury During Laparoscopic Cholecystectomy: A Prospective Analysis 总被引:17,自引:0,他引:17
Djemila Boerma Erik A. J. Rauws Yolande C. A. Keulemans Jacques J. G. H. M. Bergman Huug Obertop Kees Huibregtse Dirk J. Gouma 《Annals of surgery》2001,234(6):750-757
OBJECTIVE: To assess the impact of bile duct injury (BDI) sustained during laparoscopic cholecystectomy on physical and mental quality of life (QOL). SUMMARY BACKGROUND DATA: The incidence of BDI during laparoscopic cholecystectomy has decreased but remains as high as 1.4%. Data on the long-term outcome of treatment in these patients are scarce, and QOL after BDI is unknown. METHODS: One hundred six consecutive patients (75 women, median age 44 +/- 14 years) were referred between 1990 and 1996 for treatment of BDI sustained during laparoscopic cholecystectomy. Outcome was evaluated according to the type of treatment used (endoscopic or surgical) and the type of injury. Objective outcome (interventions, hospital admissions, laboratory data) was evaluated, a questionnaire was filled out, and a QOL survey was performed (using the SF-36). Risk factors for a worse outcome were calculated. RESULTS: Median follow-up time was 70 months (range 37-110). The objective outcome of endoscopic treatment (n = 69) was excellent (94%). The result of surgical treatment (n = 31) depended on the timing of reconstruction (overall success 84%; in case of delayed hepaticojejunostomy 94%). Five patients underwent interventional radiology with a good outcome. Despite this excellent objective outcome, QOL appeared to be both physically and mentally reduced compared with controls (P <.05) and was not dependent on the type of treatment used or the severity of the injury. The duration of the treatment was independently prognostic for a worse mental QOL. CONCLUSIONS: Despite the excellent functional outcome after repair, the occurrence of a BDI has a great impact on the patient's physical and mental QOL, even at long-term follow-up. 相似文献
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Objectives: Visual media influence the general public's perceptions and attitudes regarding people with mental conditions. This qualitative study investigates the depiction accuracy of dementia's clinical features in motion pictures.Method: Using the search terms ‘dementia’, ‘Alzheimer's disease’ and ‘senility’ movies with release dates between January 2000 and March 2012 were sought on the Internet Movie Database. Based on four selection criteria 23 movies were included. Independently, three researchers watched all movies, scored symptoms, capacities, and behaviors. Scores were discussed and refined during consensus meetings, resulting in a taxonomy of clinical features.Results: Various features are found, most often cognitive symptoms. Behavioral features are also shown – retiring behavior more than agitation – and various emotions, but physical symptoms are rarely depicted. Capacities are infrequently presented and are unrealistic in several of the movies.Conclusion: The clinical picture of dementia portrayed in fictional movies is mild and may be misleading. 相似文献
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10.
Sander C. J. Verfaillie Sofie M. Adriaanse Maja A. A. Binnewijzend Marije R. Benedictus Rik Ossenkoppele Mike P. Wattjes Yolande A. L. Pijnenburg Wiesje M. van der Flier Adriaan A. Lammertsma Joost P. A. Kuijer Ronald Boellaard Philip Scheltens Bart N. M. van Berckel Frederik Barkhof 《European radiology》2015,25(10):3050-3059