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41.
De novo 13q partial duplication identified by cytogenetic, biochemical and molecular approaches 总被引:1,自引:0,他引:1
S. Schwartz M. Harris R. Ehrenpreis A. Zaslav L. J. Raffel M. F. Schwartz E. Lieber M. M. Cohen 《Clinical genetics》1991,40(6):417-422
A 3.5-month-old female infant manifesting dysmorphic facies, developmental delay and failure to thrive was referred for cytogenetic evaluation. Peripheral lymphocytes revealed three chromosomally distinct cell lines: 46,XX/46,XX,10p+/47,XX,10p+,+mar. Dermal fibroblasts revealed only the 46,XX,10p+cell line. High resolution G-, R-, and Q-banding suggested that the extra chromosomal material (10p+) represented a duplication of the segment 13q14----13qter. Parental karyotypes were normal. As absolute identification of de novo chromosomal abnormalities, based solely on cytogenetic studies, is sometimes difficult, both biochemical and molecular approaches were undertaken to elucidate this abnormality in more detail. Dosage effects were examined using esterase D (localized to 13q14.1) and the DNA probes p1E8 and p9A7 (localized to 13q22 and 13q31/32, respectively). These studies suggested the presence of only 2 copies of esterase D, but 3 copies of both DNA probes, allowing identification of the breakpoint at 13q14.2. 相似文献
42.
A. Kuhlwein H. J. Meyer C. O. Koehler 《Journal of molecular medicine (Berlin, Germany)》1990,68(2):107-115
Summary Pain syndromes of the lumbar spine are one of the main problems in orthopedic practice. The therapeutic effect of NSAIDs is not subject to doubt in this connection.But considering that the application of NSAIDs is frequently associated with side effects, a reduction of dosage would be to the patient's benefit. Clinical studies have shown that concomitant treatment with vitamins B1, B6, B12 and diclofenac leads to a more efficient pain relief than treatment using diclofenac alone and thus provides the possibility of saving NSAIDs.This clinical trial was carried out in order to determine whether these results can also be achieved when a reduced dosage of diclofenac (75 mg daily) is used.123 patients with acute pain syndromes of the lumbar spine were treated with either B-vitamins and diclofenac or diclofenac alone for a maximum of 7 days. There was the option to terminate therapy in the trial after 3–4 days in the case of total pain relief.45 patients could stop the treatment due to remission of symptoms. 30 patients belonged to the combination therapy group, the other 15 took diclofenac alone; this difference is statistically significant (p< 0.05).All parameters concerning pain relief and movement of the vertebral column showed statistically significant differences in favour of the B-vitamin-diclofenac-combination, too.The results document the positive influence of B-vitamins on painful vertebral syndromes and indicate that B-vitamins contribute to saving of NSAIDs by shortening the treatment time and reducing daily NSAID-dosage. 相似文献
43.
44.
Terreehorst I Duivenvoorden HJ Tempels-Pavlica Z Oosting AJ de Monchy JG Bruijnzeel-Koomen CA van Wijk RG 《Allergy》2005,60(7):888-893
BACKGROUND: Environmental control has been put forward as an integral part of the management of house dust mite (HDM) allergy in sensitized patients. To validate this statement allergic disorders involved in HDM allergy--allergic asthma, rhinitis and atopic eczema/dermatitis syndrome (AEDS)--should be taken together and studied in terms of the efficacy of environmental control. Because a generic quality of life questionnaire exceeds the border of disease, this may be used as major outcome parameter. RESEARCH OBJECTIVE: To study the effects of bedding encasings in HDM allergic patients with asthma, rhinitis and AEDS. MATERIAL AND METHODS: A total of 224 adult HDM allergic patients with rhinitis and/or asthma and/or dermatitis were randomly allocated impermeable or nonimpermeable encasings for mattress, pillow and duvet. Short form 36 (SF-36) was filled in at baseline and after 12 months. Results: Lower physical (P = 0.01) and emotional (P < 0.001) sumscores were seen in females. Also, the presence of asthma resulted in lower physical sumscore (P = 0.01). However, no effect was seen of encasings on either sumscore. CONCLUSION: Bedding encasings do not improve quality of life in a mixed population of subjects with combinations with rhinitis, asthma and atopic dermatitis and sensitized to HDMs. 相似文献
45.
William R. Gillespie Peter Veng-Pedersen 《Journal of pharmacokinetics and pharmacodynamics》1985,13(3):289-307
A new deconvolution algorithm (DCON) suitable for pharmacokinetic applications is presented. It requires that both the impulse and input responses, typically systemic drug levels, be well described by polyexponential equations. DCON has a wider range of applications than an earlier method (DECONV) from which it is derived. A FORTRAN program is provided, making implementation of the technique a simple matter. DCON is demonstrated to evaluate the GI bioavailability, defined as the rate and the extent of gastrointestinal drug release, of various ibuprofen dosage forms. The GI drug release kinetics exemplifies a pharmacokinetic system which cannot be evaluated using the previous deconvolution algorithm (DECONV) because of an initial zero drug level response. This limitation is not found in DCON. It is also demonstrated how the mean in vivo dissolution time MDT can be evaluated by deconvolution. 相似文献
46.
Summary As part of health examination of a representative sample of an adult population (n=8000) serum digoxin concentration was measured in 661 patients on continuous digoxin therapy. The prescribed mean daily dose of digoxin was significantly higher in men (223 µg) than in women (201 µg); the dose significantly decreased with increasing age. The mean serum digoxin concentration was the same in men and women and it differed insignificantly between age groups, although older persons tended to have a higher concentration. The age — adjusted mean steady state digoxin concentration was 1.02 ng/ml in men and 0.98 ng/ml in women; in about 60% the concentration was within the therapeutic range (0.80–2.00 ng/ml). The concentrations were clearly related to daily dose of digoxin. At equal dose levels old persons tended to have higher concentrations than younger persons. The interindividual variation in serum digoxin concentrations was very wide. However, when digoxin measurements in the same subjects were repeated about three months later, a good correlation between the two measurements was found. The interval between the last dose of digoxin and the collection of blood (up to 41 h) had relatively little effect on individual serum digoxin concentrations. Patients on concomitant thiazide or loop diuretic therapy had the same mean serum digoxin concentration as those not-receiving a diuretic. The mean concentration was significantly higher in patients taking a thiazide or loop diuretic combined with triamterene. The difference may have been due to an interaction between triamterene and digoxin. 相似文献
47.
Zusammenfassung Ein cellularer Automat, der eine vereinfachte Abschätzung von Verteilungsmustern der Magendurchblutung erlaubt, wird beschrieben. Die auf der Basis des Energiebedarfs der Säuresekretion und der Morphologie der Magenstrombahn simulierbaren Umverteilungsphänomene stimmen in Form und Lage mit dem menschlichen Magengeschwür überein. Sonderfälle der peptischen' Läsion, wie das lineare Geschwür oder die peptische' Stenose der Speiseröhre, sind mit der Theorie des submucösen Steal-Phänomens zu vereinbaren.
Gastric ulcer as a problem of energy balance: Design of a cellular automaton for simulation of disorders of blood flow distribution to the stomach wall
Summary A cellular automaton is described, which allows a simple simulation of patterns of gastric blood flow distribution. Effects of redistribution, which can be simulated on the basis of the energy requirements of acid secretion and the morphology of the gastric vascular bed, are isomorph to form and site of gastric ulcer in man. Special forms of the peptic lesion as linear ulcers or peptic stenoses of the oesophagus are consistent with the theory of a submucous steal-phenomenon.
Herrn Prof. Dr. Dr. rer. nat. h. c. Friedrich Stelzner zum 65. Geburtstag gewidmet 相似文献
48.
CRF55_01B是我国报道的HIV-1主要流行毒株之一,具有较为独特的流行病学和基因进化特征。近几年HIV-1分子流行病学监测发现CRF55_01B已经成为我国第五个主要流行HIV-1毒株。本研究从他的发现起源、流行情况、致病性和耐药性及参与的重组等方面进行综述,并讨论了与其流行密切相关的社会和生物学因素。 相似文献
49.
The incidence of lung cancer is affected by air pollution, especially in high-density urban areas with heavy road traffic and dense urban form. Several studies have examined the direct relationship between lung cancer incidence and road traffic as well as urban form. However, the results are still inconsistent for high-density urban areas. This study focused on urban form and road traffic, aiming at revealing their relationship with lung cancer incidence in high-density urban areas at the neighborhood level. For this, an ecological study was conducted in downtown Shanghai to identify important indicators and explore quantitative associations. Negative binomial regression was fitted with lung cancer incidence as the dependent variable. The independent variables included indicators for road traffic and urban form, greenness, demographic, and socio-economic factors. The results showed that building coverage, averaged block perimeter area ratio, density of metro station without the glass barrier system, and the percentage of low-quality residential land were positively correlated with lung cancer incidence in the neighborhood, while population density was negatively correlated with lung cancer incidence. This study found a strong self-selection effect of socio-economic factors in the relationship between lung cancer incidence and greenness. These results may be useful for conducting health impact assessments and developing spatial planning interventions for respiratory health in high-density urban areas. 相似文献
50.
目的借助医院现有的护理信息平台,实现护理荣誉无纸化管理。方法在护理信息平台上二次开发,整合平台数据库中的管理信息,构建护理荣誉表单系统,并通过"工号"字段进行关联,与其他数据表单交互取数。结果护理荣誉表单系统的应用,实现了护理荣誉无纸化管理;将护理集体荣誉进行量化处理,体现了护理荣誉使用中公平公正的原则;优化护理荣誉使用流程,在晋升评优等活动中实现"一键取数"。结论护理荣誉无纸化管理的应用,改变传统纸质版护理荣誉证书在存储及使用中存在的不足,提高护理管理工作效率。 相似文献