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51.
KV Shah TD Kessis F Shah JW Gupta D Shibata RW Jones 《Canadian Metallurgical Quarterly》1996,15(2):127-130
Unstable expansion of the CTG repeats in the 3' untranslated region encoding a member of the protein kinase family in the q13.3 band on chromosome 19 is a mutation specific for myotonic dystrophy. To examine the correlation between clinical expression and CTG trinucleotide repeat length, we carried out Southern blot analysis in a family with myotonic dystrophy. In this pedigree, the expanded CTG repeats were transmitted maternally. The mother had three female children. The mother had about 200 CTG repeats, and the number of repeats for each child was about 800, 1500 and 1600 in birth order. The mother and the patient with 800 repeats were unaware of muscle weakness or myotonia. Symptoms were present from age 3 years in the patient with 1500 repeats and from birth in the one with 1600 repeats. Although the mother menstruated regularly, the patients with 800 and 1500 repeats both menstruated irregularly, and the one with 1600 repeats has never menstruated. The age of onset and severity of the disease were correlated with the size of the expanded repeats. Endocrinological studies revealed that the basal levels of the gonadotropins, PRL and E2 were within normal range, and a pituitary response to LHRH was observed. These data suggest that the amenorrhea and menstrual irregularities were caused by a suprahypophyseal dysfunction. When expanded CTG repeats are transmitted maternally, abnormal products resulting from the metabolic disturbance in the affected mother may harm the fetus in utero. A heterozygous fetus, who has more CTG repeats, may be unable to metabolize the pathologic products sufficiently and therefore may become more severely affected. This may explain the exclusive maternal transmission of congenital myotonic dystrophy. 相似文献
52.
Occlusion of large atrial septal defects with a centering buttoned device: early clinical experience
EB Sideris M Leung JH Yoon CR Chen R Lochan AM Worms C Rey B Meier 《Canadian Metallurgical Quarterly》1996,131(2):356-359
A feasibility clinical study was conducted for the transcatheter occlusion of large ostium secundum atrial septal defects with the centering buttoned device. The centering buttoned device is a modification of the regular buttoned device in which a centering counter-occluder is sutured at the central 40% portion of the occluder. During centering it is stretched, forming a parachute-shaped structure and pulling the occluder over the center of the defect. During buttoning, the counter-occluder forms a double figure eight, opposing the right atrial side of the atrial septum. Occlusion was performed in 12 patients aged 6 to 56 years. All had been rejected for transcatheter occlusion by the regular buttoned device, because of either their defect size or the lack of adequate septal rim. The defect size varied between 23 and 31 mm, and the device size varied between 45 and 60 mm. Nine had immediate effective occlusions of their defects and three residual shunts. One patient with unbuttoning had hemolysis at 2 weeks and underwent surgery. Early results of the transcatheter occlusion of large atrial septal defects are promising, and larger clinical trials are justified. 相似文献
53.
OM Takayanagui AA Castro e Silva RC Santiago NS Odashima VC Terra AM Takayanagui 《Canadian Metallurgical Quarterly》1996,54(4):557-564
Cysticercosis is a severe public health problem in several regions of Asia, Africa and Latin America. Epidemiologic studies based on the frequency of cases observed in specialized neurology, neurosurgery and computed tomography services, at autopsy and in seroepidemiologic studies do not permit the determination of the true prevalence of the disease in the population. The objective of the present study was to investigate the prevalence of cysticercosis by compulsory notification. The coefficient of prevalence was 54 cases/100,000 inhabitants in the municipality of Ribeir?o Preto. The results also indicated that cysticercosis is not under control in our region since 21% of cases presented the active form of the disease. Compulsory notification proved to be a valuable resource for the epidemiologic study of cysticercosis, also permitting the mapping of more affected areas for a better direction of prevention strategies. 相似文献
54.
55.
The beta subunit of human chorionic gonadotropin is potentially encoded by six genes, which can be categorized into two types based on a sequence change at codon 117: GCC for the type I and GAC for the type II genes. We previously showed that, whereas type I genes were exclusively expressed in normal breast tissues, expression of type II genes was associated with malignant transformation (Bellet, D., et al. Cancer Res., 57: 516-523, 1997). We designed a simple and robust test (the CG117 assay) that measures the percentage of type II over both types of chorionic gonadotropin beta mRNAs. Normal breast tissues consistently had a negative CG117 index, whereas cancer breast tissues showed indexes ranging from 0 to 100%. The prognostic significance of the CG117 index was investigated in a series of 99 unilateral invasive primary breast cancer patients with known long-term outcome (median follow-up, 9 years). The CG117 index was positive in 48 (48.5%) of the 99 tumor mRNA samples. The index was not significantly associated with standard prognostic parameters, including clinical and macroscopic tumor size, histopathological grade, and lymph node status or steroid receptor status. Patients with a positive CG117 index in primary tumor mRNA had significantly shorter metastasis-free survival (P = 0.014) and overall survival (P = 0.038) after surgery, compared to patients with a negative index. The prognostic significance of the CG117 index persisted in Cox multivariate regression analysis, both for metastasis-free survival (P = 0.008) and overall survival (P = 0.016), together with lymph node status (P = 0.027 and P = 0.009, respectively). These findings indicate that the CG117 index may contribute to the identification of high-risk breast cancer patients. 相似文献
56.
BACKGROUND: Continent urinary diversion may be necessary in a range of urological abnormalities. In circumstances where the standard techniques are not possible, alternative innovative techniques may be used. METHODS: In a female patient with bladder exstrophy, a continent diversion was recommended. The appendix was not available, the ureters were not suitable and a continent stoma was fashioned from an isolated segment of colon. RESULTS: The stoma proved to be continent, although it was somewhat stenotic. However, clean intermittent catheterization maintained its patency. CONCLUSIONS: A continent catheterizable stoma may be constructed from a segment of colon. The technique may be considered when other well recognized methods are not feasible. 相似文献
57.
AM Lacy 《Canadian Metallurgical Quarterly》1998,10(3):279-86; quiz 288
Due to aesthetic and periodontal factors, patients often seek treatment to close diastemata. This condition may be eliminated by either direct or indirect techniques. Indirect techniques generally require multiple visits to facilitate the placement of laminate, crown, or bridge restorations, and involve significant financial expense. Direct techniques can be economical and successful, although they present unique challenges in the achievement of satisfactory proximal contacts and contours. This article describes three clinical techniques that may be employed to treat anterior and posterior diastemata in a single appointment. 相似文献
58.
Dynamic elastic-plastic buckling phenomena which might develop in a rod from an axial impact loading are studied in order to identify the conditions for quasi-static behaviour. A discrete model for dynamic elastic-plastic buckling, which retains the axial and the lateral inertia forces, is proposed, and the relationship between the model parameters and the characteristics of an actual structure is given. Examples of different external loadings and boundary conditions are considered in order to clarify the influence of elastic-plastic axial wave propagation on the buckling process. The critical time for the initiation of buckling is obtained and the post-buckling behaviour of the model is analysed. Particular attention is paid to the role of the striking mass on the characteristics of the buckling process and on the development of the buckling shape. The numerical study reveals that the inertia of the striking mass affects considerably the development of the buckling shape causing different patterns of axial strain distributions at the initiation of buckling. The comparisons which are made between the model predictions and some previously published experimental data show that the buckling process is governed by the impact velocity as well as by the external loading history provided by the experimental technique. 相似文献
59.
It is important that new types of spirometer for widespread clinical use are pragmatically evaluated in primary care. This study compared measurements taken by a new portable Fleisch pneumotachograph spirometer (known as the Escort) with those of the commonly used mini-Wright peak flow meter and the Micromed Pocket turbine spirometer. A pragmatic study was conducted in two phases during routine surgeries at Aldermoor Health Centre, Southampton. Phase I compared the new spirometer with the mini-Wright peak flow meter and Phase 2 compared the new spirometer and the turbine spirometer. One hundred patients aged 5-88 years (56 patients with a history of chronic respiratory complaints and 44 patients without) entered Phase 1, and 100 patients aged 6-82 years (62 patients with a history of chronic respiratory complaints and 38 patients without) entered Phase 2. Each patient contributed only once to each phase, but some entered both phases on separate occasions. Ninety-five percent limits of agreement (mean +/- SD) were wide for all comparisons. Graphical plots revealed trends towards higher Escort values as mean values rose compared with both mini-Wright and turbine readings for peak expiratory flow rate and forced expiratory volume in one second. Possible over-reading of peak expiratory flow rate with the mini-Wright meter at low mean values was also seen. Readings taken with these different types of meter cannot be interchanged with confidence in clinical practice. The clinical significance of the theoretically more accurate measures of lung function produced with the new meter, and indeed of spirometry itself, needs further investigation. 相似文献
60.
M. R. Alexander R. D. Short F. R. Jones M. Stollenwerk J. Zabold W. Michaeli 《Journal of Materials Science》1996,31(7):1879-1885
The effect of oxygen addition to microwave-sustained plasmas of hexamethyldisiloxane (HMDSO) has been investigated. Attention was directed to the solid products formed on aluminium substrates (plasma deposits). To enable a quantitative analysis of these, X-ray photoelectron spectroscopy (XPS) of standard silicon-containing materials was carried out. When suitable charge correction is applied to the XP spectra of HMDSO/O2 plasma deposits, a number of very clear trends emerge. From changes in elemental composition, core line binding energies (Si2p, C 1s, and O 1s) and widths, we show how oxygen addition to the plasma affects the chemical nature of the plasma deposit. The data reported also provide (some limited) information on the reactions taking place in the plasma. 相似文献