It was found by classical cytogenetic methods that approximately 80% of X-chromatin positive mates have karyotype 47,XXY and the rest have mosaicism of sex chromosomes. More sensitive ...molecular-cytogenetic studies allow to evaluate even non-dividing cells of different tissues and therefore they suggest that there could be more frequent occurrence of patients with numerical changes of gonosomes than quoted in the literature. The aim of this study was to detect numerical changes of sex chromosomes by means of double-colour fluorescence in situ hybridisation (FISH) in dividing and non-dividing nuclei of peripheral lymphocytes of males with Klinefelter's syndrome, to compare clinical findings with cytogenetic results, to determine differences in sensitivity of classical and molecular-cytogenetic methods and estimatere the values obtained with controls (healthy males).
26 males with previously diagnosed Klinefelter's sy were examined. Classical cytogenetic studies consisted of evaluation of at least 20 G-banded mitoses of 72 h cultivated peripheral blood. The results we obtained: 19 patients with 47,XXY, 5 mosaics 47,XXY/46,XY, 1 patient mosaic 46,XX/47,XXY and 1 patient 48,XXYY karyotype. The results of double colour FISH and classical cytogenetics were compared and mosaics of cells with normal karyotype 46,XY was found. As a control 10 healthy males were examined and mosaics of gonosomes were not detected.
FISH method has a higher sensitivity for detection of sex chromosomes mosaics than classical cytogenetics. The existence of small cellular side clones with 46,XY karyotype or numerical sex chromosomes changes which were not determined previously can be proved by FISH in patients with Klinefelter's sy.
Economic aspects of osteoporosis Stĕpán, J; Smíd, M; Prokes, M ...
Časopis lékařů českých,
1998-Nov-30, Letnik:
137, Številka:
23
Journal Article
Recenzirano
The objective of this study was to evaluate expenditures and efficacy of osteoporosis treatment in the Czech Republic (CZ) (1.38 million women and 0.99 million men > 55 years of age).
Demographic ...data, incidence of hip fractures and prevalence of osteoporosis and osteopenia in Czech women and men, cost burden to healthcare agencies due to hip fractures and costs of diagnostic procedures, preventive measures and therapies of osteoporosis were obtained from published data and from database of the main health insurance agency (VZP) and the State Institute for Drug Control. The direct costs for treatment of hip fractures in the CZ in 1997 averaged Kc (Czech Crown) 2.5 billion, diagnosis of osteoporosis, Kc 150 million, prevention of osteoporosis using hormone replacement therapy, Kc 66 million, and treatments of osteoporosis which has been applied to less than 5% of osteoporosis patients, 482 million. However, despite the continuously increasing expenditures for treatments of osteoporosis, the incidence of hip fractures doubled in the last 10 years. This is mainly due to increased life expectancy in Czech women and men.
The results of this first economic evaluation of diagnosis, treatment and consequences of osteoporosis in the CZ indicate a need for conceptual decisions in both treatment and prevention of osteoporosis.
During feeding, a tick's mouthpart penetrates the host's skin and damages tissues and small blood vessels, triggering the extrinsic coagulation and lectin complement pathways. To elude these defense ...mechanisms, ticks secrete multiple anticoagulant proteins and complement system inhibitors in their saliva. Here, we characterized the inhibitory activities of the homologous tick salivary proteins tick salivary lectin pathway inhibitor, Salp14, and Salp9Pac from Ixodesscapularis in the coagulation cascade and the lectin complement pathway. All three proteins inhibited binding of mannan-binding lectin to the polysaccharide mannan, preventing the activation of the lectin complement pathway. In contrast, only Salp14 showed an appreciable effect on coagulation by prolonging the lag time of thrombin generation. We found that the anticoagulant properties of Salp14 are governed by its basic tail region, which resembles the C terminus of tissue factor pathway inhibitor alpha and blocks the assembly and/or activity of the prothrombinase complex in the same way. Moreover, the Salp14 protein tail contributes to the inhibition of the lectin complement pathway via interaction with mannan binding lectin–associated serine proteases. Furthermore, we identified BaSO4-adsorbing protein 1 isolated from the tick Ornithodoros savignyi as a distant homolog of tick salivary lectin pathway inhibitor/Salp14 proteins and showed that it inhibits the lectin complement pathway but not coagulation. The structure of BaSO4-adsorbing protein 1, solved here using NMR spectroscopy, indicated that this protein adopts a noncanonical epidermal growth factor domain–like structural fold, the first such report for tick salivary proteins. These data support a mechanism by which tick saliva proteins simultaneously inhibit both the host coagulation cascade and the lectin complement pathway.
This study focused on the assembly characteristics of debranched xylan onto cellulose surfaces. A rye arabinoxylan polymer with an initial arabinose/xylose ratio of 0.53 was debranched with an oxalic ...acid treatment as a function of time. The resulting samples contained reduced arabinose/xylose ratios significantly affecting the molecular architecture and solution behavior of the biopolymer. With this treatment, an almost linear xylan with arabinose DS of only 0.04 was obtained. The removal of arabinose units resulted in the self-assembly of the debranched polymer in water into stable nanoparticle aggregates with a size around 300 nm with a gradual increase in crystallinity of the isolated xylan. Using quartz crystal microbalance with dissipation monitoring, the adsorption of xylan onto model cellulose surfaces was quantified. Compared to the nonmodified xylan, the adsorption of debranched xylan increased from 0.6 to 5.5 mg m–2. Additionally, adsorption kinetics suggest that the nanoparticles rapidly adsorbed to the cellulose surfaces compared to the arabinoxylan. In summary, a control of the molecular structure of xylan influences its ability to form a new class of polysaccharide nanoparticles in aqueous suspensions and its interaction with nanocellulose surfaces.
An extremely halophilic euryarchaeon, strain HArcel1
, was enriched and isolated in pure culture from the surface brines and sediments of hypersaline athalassic lakes in the Kulunda Steppe (Altai ...region, Russia) using amorphous cellulose as the growth substrate. The colonies of HArcel1
are pale-orange, and form large zones of cellulose hydrolysis around them. The cells are non-motile cocci of variable size with a thin monolayer cell wall. The isolate is an obligate aerobic heterotroph capable of growth with only three substrates: various forms of insoluble cellulose, xylan and cellobiose. Strain HArcel1
is an extremely halophilic neutrophile, growing within the salinity range from 2.5 to 5 M NaCl (optimum at 3.5-4 M). The core archaeal lipids are dominated by C20-C20 and C25-C20 dialkyl glycerol ethers, in approximately 6:1 proportion. The 16S rRNA and rpoB' gene analysis indicated that HArcel1
forms a separate lineage within the family Haloarculaceae, order Halobacteriales, with the genera Halorhabdus and Halopricus as closest relatives. On the basis of the unique phenotypic properties and distinct phylogeny of the 16S rRNA and rpoB' genes, it is suggested that strain HArcel1
is classified into a new genus and species Halococcoides cellulosivorans gen. nov., sp. nov. (JCM 31941
=UNIQEM U975
).
Two groups of alkaliphilic haloarchaea from hypersaline alkaline lakes in Central Asia, Egypt and North America were enriched and isolated in pure culture using chitin as growth substrate. These ...cultures, termed AArcht, were divided into two groups: group 1 which includes eleven isolates from highly alkaline soda lakes and group 2 which contains a single isolate obtained from the alkaline hypersaline Searles Lake. The colonies of chitin-utilizing natronoarchaea were red-pigmented and surrounded by large zones of chitin hydrolysis. The free cells of both groups were mostly flat nonmotile rods, while the cells that attached to chitin or formed colonies on chitin plates were mostly coccoid. The isolates are obligate aerobic saccharolytic archaea utilizing chitin and chitosane (less actively) as the only sugar polymers as well as a few hexoses as their carbon and energy source. Both groups are extremely halophilic, growing optimally at 3.5–4M total Na+, but they differ in their pH profiles: the main group 1 isolates are obligately alkaliphilic, while the single group 2 strain (AArcht-SlT) is alkalitolerant. The core archaeal lipids in both groups are dominated by C20–C20 and C20–C25 dialkyl glycerol ethers (DGE) in approximately equal proportion. Phylogenetic analysis indicated that the isolates form an independent genus-level lineage within the family Natrialbaceae with 3 species-level subgroups. The available genomes of the closest cultured relatives of the AArcht strains, belonging to the genera Natrialba and Halopiger, do not encode any chitinase-related genes. On the basis of their unique phenotypic properties and distinct phylogeny, we suggest that the obligate alkaliphilic AArcht isolates (group 1) with an identical phenotype are classified into a new genus and species Natrarchaeobius chitinivorans gen. nov., sp. nov., with strain AArcht4T as the type strain (JCM 32476T=UNIQEM U966T), while the facultatively alkaliphilic strain AArcht-SlT (group 2) — as a new species Natrarchaeobius halalkaliphilus sp. nov. (JCM 32477T=UNIQEM U969T).