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  • 1
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Fusion Engineering and Design 25 (1994), S. 289-298 
    ISSN: 0920-3796
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Physics
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Only a small proportion of the mouse genome is transcribed into mature messenger RNA transcripts. There is an international collaborative effort to identify all full-length mRNA transcripts from the mouse, and to ensure that each is represented in a physical collection of clones. Here we report the ...
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The RIKEN Mouse Gene Encyclopaedia Project, a systematic approach to determining the full coding potential of the mouse genome, involves collection and sequencing of full-length complementary DNAs and physical mapping of the corresponding genes to the mouse genome. We organized an international ...
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Experimental Cell Research 167 (1986), S. 369-375 
    ISSN: 0014-4827
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 0021-9673
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis–ichthyosis–deafness (KID) syndrome. Objectives To define the GJB2 mutations in three Japanese patients with KID syndrome. Methods Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. Results We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. Conclusions These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Calcified tissue international 59 (1996), S. S016 
    ISSN: 1432-0827
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract. Bone metabolism may be measured indirectly by determining markers for bone formation and bone resorption. Traditionally, total alkaline phosphatase has served to mark bone formation, whereas urine calcium and hydroxyproline, corrected for creatinine, have marked bone resorption. Although these markers have contributed to our understanding of bone metabolism, by themselves they lack the sensitivity and specificity to be helpful in the day-to-day management of patients with osteoporosis. Newer bone markers have been developed and others are currently under development. These markers may be helpful in determining the type of osteoporosis and the response to therapy. Nonetheless, despite their increased sensitivity and specificity, they have not yet been shown to predict future fractures. Many prospective studies have shown that bone mass measured at any site and by any method is inversely related to fracture risk. Site-specific measurement of the bone density of the proximal femur appears to have a stronger relationship to the risk of hip fracture. In predicting spinal fractures, however, measurement of bone density in the lumbar spine does not appear to be substantially superior to measurements of bone density at other sites. The lifetime risk for hip fracture can be estimated from bone mass measurements made in the perimenopausal period. In the future, the combination of baseline perimenopausal bone density and assessments of biochemical markers may better predict future fracture risk; however, this has yet to be shown.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0827
    Keywords: Key words: Cortical bone — Trabecular bone — Bone lead content — Serum lead concentration — Bone disease.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract. There is evidence from cell culture experiments, animal studies, and from measurements in humans that lead may exert detrimental effects on bone mineral metabolism. In order to explore a possible association between lead and bone disease, both cortical and trabecular bone lead content as well as serum lead concentration was measured in 117 patients who attended a metabolic bone disease clinic (n = 92) or were undergoing dialysis for renal failure (n = 25). Cortical bone lead content was higher in patients suffering from Paget's disease than it was in controls, patients with osteoporosis, and patients on dialysis. Trabecular bone lead content was lowest in patients with Paget's disease or osteitis fibrosa. There was no association between bone lead content and serum alkaline phosphatase concentration in patients suffering from osteoporosis. No statistically significant differences in serum lead concentrations were found between groups. Our results do not distinguish between the two possibilities that increased bone turnover due to Paget's disease releases lead from trabecular bone which is then available for deposition into cortical bone or the alternative possibility that an increased lead content in cortical bone may cause increased turnover with release of lead from trabecular bone.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Calcified tissue international 65 (1999), S. 332-336 
    ISSN: 1432-0827
    Keywords: Key words: Calcium — Vitamin D therapy — Costicosteroid-induced bone loss.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract. Corticosteroid-induced osteoporosis (CIO) is a serious disorder that results in significant long-term morbidity. Increased bone resorption is caused by decreased Ca absorption and increased urinary Ca excretion leading to secondary hyperparathyroidsim. Calcium prophylaxis alone, when patients start corticosteroids, is associated with rapid rates of spinal bone loss and offers only partial protection from corticosteroid-induced spinal bone loss. Though calcium supplementation may have some benefit, it clearly cannot completely prevent corticosteroid-induced bone loss. At most, Ca therapy should only be considered adjunctive therapy in the treatment or prevention of corticosteroid-induced bone loss and should be administered in combination with other treatments. Earlier work demonstrated increases in forearm bone mineral density (BMD) with the use of Ca and vitamin D in patients with established CIO. However, caution should be taken when interpreting these results, since bone loss generally tapers or plateaus after the first 12 months of corticosteroid treatment; as such, any therapy might show benefit. In addition, bone density was only taken at the radius and not the spine where most of the bone loss takes place. Nonetheless, in recent trials of at least 2-year duration in which calcium and vitamin D therapy served as placebos, the result indicated that bone mass was maintained at the spine and hip throughout treatment in patients who had used chronic corticosteroids. In primary prevention trials, the amount of bone loss observed in the spine after therapy with Ca and vitamin D combinations is similar to that observed in other prevention studies in the Ca alone-treated control groups. Furthermore, Ca and vitamin D therapy appears to be less effective than other agents in the prevention of corticosteroid-induce bone loss. Although several studies do not report side effects that may be associated with Ca and vitamin D therapy, the few that do frequently report hypercalciuria. In the absence of other studies that support the use of Ca and vitamin D in the prevention of CIO, the data are too limited to generally recommend them alone as a preventative therapy. Activated vitamin D may be of greater benefit.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1433-2965
    Keywords: Key words: Clinical settings – Osteoporosis – Quality of life – Shortened questionnaire – Vertebral fractures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract: The objective of the study was to evaluate a shortened osteoporosis quality of life questionnaire (OQLQ) in osteoporotic women with back pain due to vertebral fractures. From the longer 30-item OQLQ (four to nine items per domain) we created the mini-OQLQ by choosing the two items with the highest impact in each of five domains (symptoms, physical function, activities of daily living, emotional function, leisure). We administered the OQLQ, the Sickness Impact Profile, the SF-36 and the Brief Pain Index to patients at baseline, after 2 weeks and after 6 months. The intraclass correlations between baseline and the 2-week follow-up for the five mini-OQLQ domains ranged from 0.72 to 0.86. Cross-sectional correlations between the domains of the mini-OQLQ and other health instruments were moderate to large (0.35–0.80) and greater than predicted. The mini-OQLQ items showed moderate to large correlations with items omitted from the shortened questionnaire (0.44–0.88). Correlations between the OQLQ domains and the other three instruments were greater than those of the mini-OQLQ, and partial correlations between OQLQ items omitted from the mini-OQLQ and the other three instruments after considering mini-OQLQ items were substantial (0.19–0.71) and statistically significant. Sample sizes of less than 200 per group should be required to detect minimally important differences in parallel-group clinical trials. Longitudinal correlations between the mini-OQLQ and the other measures were often significant but generally lower than predicted (0.10–0.49). The partial correlations revealed that the omitted items explained a significant portion of the longitudinal variance in each domain. We conclude that in a selected group of patients with back pain caused by vertebral fractures, the mini-OQLQ demonstrated good discriminative and adequate evaluative properties. The mini-questionnaire should be useful in clinical settings.
    Type of Medium: Electronic Resource
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