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Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.
We have studied fluctuating asymmetry (FA), as indicator of developmental stability, and between-individual variation, as surrogate of developmental canalization (DC), in long bones (humerus, ulna, radius, femur, tibia) of 72 wild-living adult-sized brown haresLepus europaeus Pallas, 1778 with variable individual heterozygosity (H).H was calculated from 13 polymorphic allozyme loci. According to the “over-dominance hypothesis”, we expected increased developmental stability and canalization at higherH-levels. But at the individual level we did not find any significant correlation between overall FA (FAI) andH. Also, standard deviations (SD) of mean length (over both body sides) of bones did not differ between individuals from two intentionally created groups of hares, namely one with high and one with lowH. FA-indices and variances of FA-indices of bone lengths did not differ significantly when compared between two intentionally created groups of hares with high and low SD of bone lengths, respectively. These latter findings suggest that developmental stability and DC are two separate or partly separate mechanisms of developmental homeostasis in the studied appendicular skeleton, and thatH has no traceable effect on develop-mental homeostasis. If there is still such an effect, it should be clearly smaller than a possibly combined effect of (presently uncontrolled) environmental stressors.
Bone regeneration is a process of vital importance since fractures of long bones and large joints have a highly deleterious impact on both, individuals and society. Numerous attempts have been undertaken to alleviate this severe medical and social problem by development of novel bioactive materials, among which bioactive glass is the most attractive because of its osteoconductive and osteostimulative properties. Since lipid peroxidation is an important component of systematic stress response in patients with traumatic brain injuries and bone fractures, studies have been undertaken of the molecular mechanisms of the involvement of 4-hydroxynonenal (HNE), an end product of lipid peroxidation, in cellular growth regulation. We found that HNE generated in bone cells grown in vitro on the surfaces of bioactive glasses 45S5 and 13-93. This raises an interesting possibility of combined action of HNE and ionic bioglass dissolution products in enhanced osteogenesis probably through a mitogen-activated protein kinase (MAPK) pathway. While the proposed mechanism still has to be elucidated, the finding of HNE generation on bioglass offers a new interpretation of the osteoinducting mechanisms of bioglass and suggests the possibility of tissue engineering based on manipulations of oxidative homeostasis.
Chondrocytes differentiate from mesenchymal progenitors and produce templates (anlagen) for the developing bones. Chondrocyte differentiation is controlled by Sox transcription factors. Templates for the neighbour bones are subsequently separated by conversion of differentiated chondrocytes into non-chondrogenic cells and emergence of interzone in which joints cavitation occurs. A central role in initiating synovial joint formation plays Wnt-14/beta-catenin signalling pathway. Moreover, bone morphogenetic proteins and growth and differentiation factors are expressed at the site of joint formation. Joint cavitation is associated with increased hyaluronic acid synthesis. Hyaluronic acid facilitates tissue separation and creation of a functional joint cavity. According to the traditional view articular cartilage represents part of cartilage anlage that is not replaced by bone through endochondral ossification. Recent studies indicate, however, that peri-joint mesenchymal cells take part in interzone formation and that these interzone cells subsequently differentiate into articular chondrocytes and synovial cells. Thus, anlage chondrocytes have a transient character and disappear after cessation of growth plate function while articular chondrocytes have stable and permanent phenotype and function throughout life. (Folia Morphol 2013; 72, 3: 181–187)
The long bones (humerus, radius, metacarpus, femur, tibia, metatarsus) of 51 extant bovid and 7 equid specimens were measured in order to test the hypothesis that they show adaptations to different habitats. We performed factor analyses (FAs) with principal component extraction method and plotted the extracted factors (Fs) in simple scatterplots. The preferred habitats (grassland, forest, mountainous regions) were labeled in the plots, and our results show three clearly separated clusters for F2 vs. F3. According to our interpretation, F1 reflects the body size of the specimens while F2 is most probably reflecting cursorial adaptations. F3 is largely affected by dimensional bone characteristics adapted to maneuver in the environment, and therefore, F3 is somehow linked to habitat. The investigated equids are plotting within the cluster of bovids preferring grassland habitats, which is surprising because of different constructions of the metapodials in perissodactyls and ruminants. Performed linear discriminant analyses (LDAs) are supporting our FA results. This approach combines biometrics with statistics and presents a tool, which easily can be applied helping to identify the paleo-habitat or the paleo-ecology of extinct bovids with implications on fossil localities.
A partial vertebral column, pelvis and femora of a newly discovered pterosaur are described. The remains from the Upper Jurassic (Kimmeridgian) of Oker (northern Germany) can be identified as belonging to the Dsungaripteridae because the cross−sections of the bones have relatively thick walls. The close resemblance in morphology to the Lower Cretaceous Dsungaripterus allows identification of the specimen as the first and oldest record of dsungaripterids in Central Europe. Furthermore, it is the oldest certain record of a dsungaripterid pterosaur world wide. The biomechanical characteristics of the dsungaripterid long bone construction shows that it has less resistance against bending and torsion than in non−dsungaripteroid pterosaurs, but has greater strength against compression and local buckling. This supports former suggestions that dsungaripterids inhabited continental areas that required an active way of life including frequent take−off and landing phases. The reconstruction of the lever arms of the pelvic musculature and the mobility of the femur indicates a quadrupedal terrestrial locomotion.
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