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131.
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF508, A455E, and G542X, by analyzing data on area of residence of CF patients. Significantly higher relative frequencies of the A455E mutation and the G542X mutation were observed in the South-West and the South-East, respectively. A uniform distribution of relative frequencies was found for the deltaF508 mutation. The results of our study show that, even in a small country such as The Netherlands, certain CF mutations may be more common in one region than in another. 相似文献
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134.
E Baldini C Tibaldi E Pfanner S Ricci A Falcone A Ceribelli R Sarcina G Comella CG Stampino PF Conte 《Canadian Metallurgical Quarterly》1996,19(6):592-594
Elderly patients with advanced non-small-cell lung cancer (NSCLC) are usually excluded from most clinical trials because of the toxicity associated with chemotherapy. About 50% of the new cases of lung cancer occur in patients older than 65 years. Doxifluridine is a fluoropyrimidine derivate which can be administered orally with very low toxicities. This phase II study evaluates the toxicity and activity of a home therapy with oral doxifluridine in elderly advanced NSCLC patients. Thirty-three advanced NSCLC patients, aged 70 years or more, entered the study; median ECOG performance status was 1 (0-2) and 22 patients (66.6%) had metastatic disease. Doxifluridine was given orally in three divided doses, for a total daily dose of 2,250 mg, for 4 consecutive days every week. The treatment was well tolerated; five patients (15%) experienced a grade 3 diarrhea which required doxifluridine dose reduction to 1,500 mg daily. Thirty-one patients are evaluable for response; four partial responses (12.9%) have been observed (95% confidence limit interval 3.6-29.8%); 17 patients (54.8%) had a stabilization of the disease. This study demonstrates that a home therapy with oral doxifluridine in elderly NSCLC patients is feasible and well tolerated and should encourage further studies. 相似文献
135.
The present study evaluated the hypothesis (Mayeux et al., 1980) that visual confrontation naming deficits may underlie the memory complaint in patients with temporal lobe epilepsy (TLE). Thirty-nine patients with medically refractory left (n = 23) and right (n = 16) TLE were compared with an epilepsy control group with idiopathic primary generalized epilepsy (n = 38). All subjects completed selected subtests of the Multilingual Aphasia Examination and Wechsler Memory Scale (Form 1) together with a measure specifically designed for quantification of the memory complaint in TLE. Objective verbal memory test performance, confrontation naming, repetition, and comprehension were unrelated to memory self-report. Controlled Oral Word Association was the only measure to exert an influence on memory self-ratings, and this relationship was specific to the TLE group. The hypothesis of Mayeux et al. (1980) was not specifically supported, but the present findings do suggest that cognitive processes reflected in orthographically based and internally generated word retrieval play a role in memory self-report. 相似文献
136.
WP Witjes MJ de Wildt PF Rosier CT Caris FM Debruyne JJ de la Rosette 《Canadian Metallurgical Quarterly》1996,156(3):1026-1034
PURPOSE: We quantified the physiological variability of clinical and pressure-flow study variables in patients with symptomatic benign prostatic enlargement. MATERIALS AND METHODS: Symptom scores were measured, and advanced urodynamic studies with pressure-flow analysis were performed in 178 patients before and 6 months after a period a watchful waiting. RESULTS: Patients without bladder outlet obstruction experienced significant symptomatic improvement. Symptoms in patients with obvious bladder outlet obstruction did not improve significantly. The reproducibility of mean pressure-flow variables was evident. However, there was an important intra-individual variability. Patients with obvious bladder outlet obstruction showed a significant decreases in detrusor pressure at maximal flow of 14cm. water, a significant decrease in the urethral resistance factor of 7 cm. water and a significant decrease of 1 obstruction class on the linear passive urethral resistance relation nomogram, indicating less severe bladder outlet obstruction. CONCLUSIONS: Mean differences among therapy groups must be regarded critically, especially when the difference are slight and possibly within physiological variability. 相似文献
137.
Two clinical studies, one prospective randomized and one retrospective, were performed to evaluate the relationship of femoral head size and acetabular component outer diameter to the prevalence of dislocation of the modular total hip replacement. Between October 1995 and April 1996, 31 primary total hip arthroplasties in 30 patients were randomized to a femoral head diameter of 22 mm or 28 mm, for two groups of acetabular components of outer diameters of 56 mm or larger and 54 mm or smaller. Head size (22 mm) and acetabular component outer diameter (> or = 56 mm) were found to increase the risk of dislocation. From December 1984 to January 1994, 308 primary total hip arthroplasties were performed through a posterior approach by one surgeon using a modular 28 mm femoral head and one type of uncemented acetabular component. The rate of dislocation for acetabular components with an outer diameter of 62 mm or larger was increased significantly (five of 36 hips, 14%) compared with those with an outer diameter of 60 mm or smaller (11 of 272 hips, 4%). 相似文献
138.
PF Irani 《Canadian Metallurgical Quarterly》1976,39(7):686-693
Electromyographic studies in 15 women with nutritional osteomalacia and proximal muscle weakness showed brief duration motor unit action potentials of normal amplitude and increased proportion of polyphasic motor unit potentials in the majority of them. By employing quantitative methods of electromyography, more positive results were obtained, thus reducing the sampling data. The histology showed non-specific muscle fibre atrophy without degenerative changes and the clinical and electromyographic examinations together showed clear evidence of a myopathy, suggesting a reversible transient block of the muscle fibres. Contrary to a recent suggestion, the nature of muscular change in osteomalacia remains the same regardless of its cause being nutritional or otherwise. 相似文献
139.
LO Langer BJ Wolfson CI Scott CS Reid DV Schidlow EA Millar PF Borns JP Lubicky BL Carpenter 《Canadian Metallurgical Quarterly》1993,45(4):488-500
Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study. 相似文献
140.