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  • 11
    ISSN: 1432-0584
    Keywords: Key words Down syndrome ; Transient abnormal myelopoiesis ; Apoptosis ; bcl-2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Transient abnormal myelopoiesis (TAM) is a haematological complication found in Down syndrome. To determine the mechanisms of sustained proliferation of TAM cells, we studied the expression of apoptosis-related proteins, such as bcl-2, Fas (APO-1/CD95) and p-53, in peripheral blood cells from a new-born infant with Down syndrome and TAM. Using flow cytometry, peripheral blood mononuclear cells (PBMCs), consisting mostly of blast cells, showed marked expression of bcl-2 protein but not of Fas or p-53 products. DNA gel electrophoresis of PBMCs, cultured in the absence of serum factors, revealed no marked fragmentation. Our findings suggest that bcl-2 overexpression may be associated with prolonged cell survival of TAM cells.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    The European physical journal 15 (2000), S. 211-219 
    ISSN: 1434-6036
    Keywords: PACS. 75.10.Jm Quantized spin models - 65.50.+m Thermodynamic properties and entropy - 75.40.Mg Numerical simulation studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract: The low-energy structure and the thermodynamic properties of ferrimagnetic Heisenberg chains of alternating spins S and s are investigated by the use of numerical tools as well as the spin-wave theory. The elementary excitations are calculated through an efficient quantum Monte Carlo technique featuring imaginary-time correlation functions and are characterized in terms of interacting spin waves. The thermal behavior is analyzed with particular emphasis on its ferromagnetic and antiferromagnetic dual aspect. The extensive numerical and analytic calculations lead to the classification of the one-dimensional ferrimagnetic behavior according to the constituent spins: the ferromagnetic (S〉2s), antiferromagnetic (S〈2s), and balanced (S=2s) ferrimagnetism.
    Type of Medium: Electronic Resource
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  • 13
    ISSN: 1439-7609
    Keywords: Key words Rheumatoid synovitis ; Targeted biopsy ; Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 68-year-old woman with early rheumatoid arthritis (RA) was admitted to the hospital because of tender and swollen knee joints. We performed a targeted synovial biopsy under arthroscopy to examine the histopathological characteristics 1 month after clinical onset. The synovia showed the typical histopathology of RA. Although the inflammatory changes were predominantly limited to the surface area of the synovia, associated with neovascularization and cell infiltrates composed mainly of T cells, plasma cells, and macrophages, lesions with fibrin deposition, mesenchymoid transformation and/or immature lymphoid follicles were also observed in part, indicating that this case was in the progression phase of RA. What we regularly call "early" might be "too late" even if it is within 1 month of clinical onset.
    Type of Medium: Electronic Resource
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  • 14
    Electronic Resource
    Electronic Resource
    Springer
    Journal of materials science 19 (2000), S. 713-715 
    ISSN: 1573-4811
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Type of Medium: Electronic Resource
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  • 15
    ISSN: 1435-232X
    Keywords: Key words Menkes disease ; ATP7A gene ; MNK gene ; Mutation ; Polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Menkes disease is an X-linked recessive disorder of the copper membrane transport system caused by mutations in the ATP7A gene. While various mutations in the ATP7A gene have been reported, a genotype-phenotype correlation has not been clearly defined. A novel mutation in the ATP7A gene in a Japanese patient with classical Menkes disease was identified via analysis of reverse-transcriptase polymerase chain reaction products and genomic DNA of the ATP7A gene. The nonsense mutation, L718X, was found to result in premature termination and immature ATP7A protein, unlikely to have normal functioning. Therefore, this nonsense mutation of the ATP7A gene is proposed to play a causative role in presenting the classical Menkes phenotype. Furthermore, four novel polymorphisms, C1535T (L464L), C2151T (T669I), G2253A (R703H), and C3677T (H1178Y) were also identified.
    Type of Medium: Electronic Resource
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  • 16
    ISSN: 1573-5052
    Keywords: Canopy gaps ; Forest dynamics ; Long-term study ; Natural disturbance ; Scale dependency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The population structure and spatial pattern of major tree species in a warm-temperate old-growth evergreen broad-leaved forest in the Tatera Forest Reserve of Japan were investigated. All stems ≥ 5 cm in diameter at breast height (DBH) were mapped on a 4 ha plot and analyses were made of population structure and the spatial distribution and spatial association of stems in different vertical layers for nine species. This was done in the context of scale dependency. The plot was located on a very gentle slope and 17.1% of its canopy layer was in gaps. It contained 45 woody plant species and 4570 living stems with a basal area of 63.9 m2 ha−1. Castanopsis cuspidata var. sieboldii, the most dominant species for the basal area, had the maximum DBH among the species present, fewer smaller stems and a lower coefficient of statistical skewness of the DBH distribution. The second most dominant species, Dystilium racemosum, had the highest stem density (410 ha−1), more abundant smaller stems and a relatively higher coefficient of skewness. Most stems in different vertical layers showed a weakly aggregated distribution with loose colonies as basic units. Gap dependency for the occurrence of stems under the canopy layer was weak. Maximum slope degree of the plot also weakly affected the occurrence of stems. Spatial associations varied among intra- and interspecific cohorts in the different layers and spatial scales examined, and positive associations among cohorts were found more frequently as the scales examined became larger. This tendency suggests that key factors forming observed spatial associations might vary with the spatial scales.
    Type of Medium: Electronic Resource
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  • 17
    ISSN: 1435-232X
    Keywords: Key words Carnitine/acylcarnitine translocase ; CACT gene ; Lariat ; Branchpoint ; Deletion ; Exon skipping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Carnitine/acylcarnitine translocase (CACT) transports acylcarnitines into mitochondria in exchange for free carnitine, and is therefore an essential component within the fatty acid beta-oxidation pathway. CACT deficiency is an autosomal recessive disease caused by a mutation of the CACT gene. We have identified two novel mutations of the CACT gene in a patient with CACT deficiency. The first, a deletion mutation (146 del T), leads to premature termination and results in a very immature CACT protein. The second, a splicing mutation (261-10T〉G), results in either skipping of exons 3 and 4, or of exon 3 alone, and leads to truncation of the protein. Each of these mutations is hypothesized to destroy the function of the CACT protein. We propose that each of these mutations of the CACT gene play a causative role in the disease.
    Type of Medium: Electronic Resource
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