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31.
We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and hypopigmented chorioretinal lacunae in both fundi typical of Aicardi syndrome. She has never had epilepsy and the EEG has always been normal, observations not reported previously in Aicardi syndrome. She was mildly mentally retarded with a full scale IQ of 61. The patient exhibited an unusually mild Aicardi syndrome phenotype.  相似文献   
32.
Under normal conditions, androgen receptors function via ligand binding and other coactivators in prostate cancer cells. The effects of the currently applied therapy are achieved through inhibition of the formation of the testosterone-receptor complex. With the advance of research at a cellular level, it is now known that tumorigenesis is much more complicated, and that tumour cell growth regulated by androgens is a complex process. The aim of our work was to utilize literature data in a search for a correlation between the number of androgen receptors and the clinical course of the disease. Transperineal ultrasound-guided biopsies were performed on 82 (otherwise unselected) patients with suspected prostate cancer, and the numbers of androgen receptors in the tissue samples were determined by a receptor-analytical method. Prostate cancer was confirmed in 43 cases. Rebiopsy was scheduled for 1 year later. We were able to carry out repeated biopsies in 18 cases, and to determine the number of receptors by the earlier method. The patients were followed clinically, and the efficacy of their medication was measured via improvement in their general condition and study of the prostate-specific antigen level. The investigation demonstrated that determination of the number of receptors itself is not of prognostic value, but it does provide information to supplement the other parameters relating to the state.  相似文献   
33.
We report on a 16-month-old boy with congenital disorder of glycosylation type 1a (CDG-1a; OMIM 212065) showing an atypical phenotype. Whereas failure to thrive is known to be a prominent feature in this condition, our patient developed postnatal macrosomia with increase of weight, length and occipitofrontal circumference (OFC) above the 95th percentile within his 1st year of life. Thereafter, weight and length were close to the 90th and OFC at the 50th percentiles. In contrast to other CDG-1a patients, the child did not have abnormal fat pads or inverted nipples; but unusual eyebrows were present. CDG-1a was confirmed by isoelectric focusing of serum transferrin and measurement of phosphomannomutase activity in leucocytes and cultured fibroblasts (residual activity <5% of controls). Mutation analysis of the phosphomannomutase 2 gene ( PMM2) revealed homozygosity for a 647A>T (N216I) mutation in our patient and heterozygosity in his consanguineous parents. Conclusion:this is the first report of macrosomia and of homozygosity for the 647A>T (N216I) mutation in a patient with congenital disorder of glycosylation type 1a which may allow further phenotype/genotype comparisons.Abbreviations BMI body mass index - CDG congenital disorder of glycosylation - OFC occipitofrontal circumference - PMM2 phosphomannomutase 2 gene  相似文献   
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BACKGROUND: Rectal barium is commonly used as a treatment planning aid for prostate cancer to delineate the anterior rectal wall. Previous research at the Ottawa Regional Cancer Centre demonstrated that retrograde urethrography results in a systematic shift of the prostate. We postulated that rectal barium could also cause prostate motion. PURPOSE: The study was designed to evaluate the effects of rectal barium on prostate position. METHODS AND MATERIALS: Thirty patients with cT1-T3 prostate cancer were evaluated. Three fiducial markers were placed in the prostate. During simulation, baseline posterior-anterior and lateral films were taken. Repeat films were taken after rectal barium opacification. The prostate position (identified by the fiducials) relative to bony landmarks was compared before and after rectal barium. Films were analyzed using PIPsPro software. RESULTS: The rectal barium procedure resulted in a significant displacement of the prostate in the anterior and superior direction. The mean displacement of the prostate measured on the lateral films was 3.8 mm (SD: 4.4 mm) in the superior direction and 3.0 mm (SD: 3.1) in the anterior direction. CONCLUSIONS: Rectal barium opacification results in a systematic shift of the prostate. This error could result in a geographic miss of the target; therefore, alternate methods of normal tissue definition should be used.  相似文献   
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37.
Studies with animals that are deficient in the vanilloid (capsaicin) receptor TRPV1 have confirmed the pivotal role that TRPV1 has in the development of post-inflammatory hyperalgesia, and enhanced TRPV1 expression has been described in various human disorders. Natural products have provided several lead structures for the development of vanilloid ligands. A recent study shows that piperine, the irritant principle in black pepper, is more efficient than capsaicin in the desensitization of human TRPV1, which suggests that this pharmacological aspect of vanilloids can be dissociated from its potency. This finding raises the intriguing possibility that piperine can be used as a chemical template for the design of improved TRPV1 agonists.  相似文献   
38.

Background

Published economic evaluations of trastuzumab for the treatment of HER2-positive metastatic breast cancer have arrived at different conclusions regarding the cost-effectiveness of trastuzumab, despite comparative efficacy being demonstrated by a small set of randomised controlled trials (RCTs).

Objectives

This article aims to provide insight into the quality of the evaluations and explore the possible drivers of the conflicting conclusions.

Methods

A systematic literature review was conducted to identify all published economic evaluations that compared the incremental costs and outcomes of trastuzumab versus a comparator.

Results

Fifteen economic evaluations were identified. In the evaluations that estimated efficacy using an RCT, the key drivers of the conclusions regarding cost-effectiveness were: the approach used to estimate overall survival in the control group given crossover to trastuzumab following progression in the trials; the inclusion of treatment beyond progression; inclusion of wastage due to unused vial portions, adverse events, and the cost of HER2 testing. Four evaluations used non-randomised approaches to estimate efficacy, thus introducing the potential for confounding. As a result these evaluations reported relatively optimistic estimates of comparative effectiveness. Finally the evaluations used different thresholds to determine whether treatment with trastuzumab was cost-effective.

Conclusion

There were numerous drivers of the different conclusions regarding the cost-effectiveness of trastuzumab, many of which are due to judgements made by the authors when translating data from RCTs. Many of the potential drivers were not identified by the published systematic reviews of economic evaluations and perhaps more remain unidentified because of inconsistent and limited reporting.  相似文献   
39.
Objectives: The study examines associations between intentions to quit smoking and health status in three age groups of Hungarian smokers, along with social-demographic background variables. Methods: In 2002, a cross-sectional representative health survey of the sample of 12 668 adults was conducted in Hungary. The associations between health status and intentions to quit smoking were analysed with logistic regression among current smokers (N = 3 408). The influence of health-related and social predictor variables was tested separately in different age groups (18–34, 35–49, 50–64, >65).  相似文献   
40.
HDL cholesterol and apolipoprotein A-I are associated with the development of coronary artery-disease (CAD). The presence of a PstI site polymorphism adjacent to the gene encoding apo A-I (known as P2) has also been shown to be associated with CAD but this relationship is controversial. A case control study was conducted in an Australian population to re-examine whether the rare P2 allele is associated with CAD. Data were derived from 159 cases of angiographically confirmed CAD and 99 healthy controls. The proportion of CAD cases carrying the P2 allele did not differ significantly from controls (11% versus 9%). In a multiple logistic regression model controlling for the effects of age, country of birth, hypertension and hypotensive drugs, body mass index and lipid variables, the P2 allele failed to predict significantly the presence of CAD (odds ratio 1.83; 95% confidence interval 0.65–5.19).  相似文献   
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