Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization

Comparative genomic hybridization (CGH) was used to detect copy number changes of DNA sequences in the Ewing family of tumours (ET). We analysed 20 samples from 17 patients. Fifteen tumours (75%) showed copy number changes. Gains of DNA sequences were much more frequent than losses, the majority of the gains affecting whole chromosomes or whole chromosome arms. Recurrent findings included copy number increases for chromosomes 8 (seven out of 20 samples; 35%), 1q (five samples; 25%) and 12 (five samples; 25%). The minimal common regions of these gains were the whole chromosomes 8 and 12, and 1q21-22. High-level amplifications affected 8q13-24, 1q and 1q21-22, each once. Southern blot analysis of the specimen with high-level amplification at 1q21-22 showed an amplification of FLG and SPRR3, both mapped to this region. All cases with a gain of chromosome 12 simultaneously showed a gain of chromosome 8. Comparison of CGH findings with cytogenetic analysis of the same tumours and previous cytogenetic reports of ET showed, in general, concordant results. In conclusion, our findings confirm that secondary changes, which may have prognostic significance in ET, are trisomy 8, trisomy 12 and a gain of DNA sequences in 1q.     

Driving factors of the phytoplankton functional groups in a deep Mediterranean reservoir

The control of phytoplankton growth is mainly related to the availability of light and nutrients. Both may select phytoplankton species, but only if they occur in limiting amounts. During the last decade, the functional groups approach, based on the physiological, morphological and ecological attributes of the species, has proved to be a more efficient way to analyze seasonal changes in phytoplankton biomass. We analysed the dynamics of the phytoplankton functional groups sensu Reynolds, recognising the driving forces (light, mixing regime, and nutrients) in the Sau Reservoir, based on a one-year cycle (monthly surface-water sampling). The Sau Reservoir is a Mediterranean water-supply reservoir with a canyon-shaped basin and a clear and mixed epilimnion layer. The long stratification period and high light availability led to high phytoplankton biomass (110.8 fresh-weight mg L⁻¹) in the epilimnion during summer. The reservoir showed P-limitation for phytoplankton growth in this period. All functional groups included one or more species (X2-Rhodomonas spp.; Y-Cryptomonas spp.; F-Oocystis lacustris; K-Aphanocapsa spp.) selected by resources, especially phosphorus. Species of Cryptomonas (group Y) dominated during the mixing period (winter season) in conditions of low light and relatively high availability of dissolved nutrients. Increases in water-column stability during spring stratification led to phytoplankton biomass increases due to the dominance of small flagellate functional groups (X2 and X3, chrysophyceans). The colonial chlorophycean O. lacustris (group F) peaked during the mid-summer stratification, when the mixed epilimnion was clearly depleted in nutrients, especially SRP. High temperature and increases in nutrient concentration during the end-summer and mid-autumn resulted in a decrease of green algae (group F) and increase of Aphanocapsa spp. (cyanobacteria, group K) and dinoflagellates (group L_o). The study also revealed the important role of physical processes in the seasonal gradient, in selecting phytoplankton functional groups, and consequently in the assessment of ecological status. The Q index (assemblage index) based on functional groups indicated the overall good ecological status of the Sau Reservoir, which varied as a function of the mixing regime. This is the first application of the Assemblage Index to a European water-supply reservoir.     

Laser heat treatments driven by integrated beams: role of irradiation nonuniformities

An analysis is given of how nonuniformities in the laser beam intensity translate into variations on the induced temperature distribution on an irradiated sample. The study involves materials with different thermal conductivities. By use of a reshaped irradiating beam obtained with a multifaceted integrating mirror, a three-dimensional numerical calculation allows us to establish both surface and in-depth temperature distributions. The results show that in the case of materials such as glass (i.e., with low thermal conductivity) large thermal gradients occur both on the surface and in depth during irradiation. However, the lateral heat flow is high enough to strongly reduce the surface gradients as soon as the laser irradiation ends. Conversely, in good thermal conductors such as nickel, the laser intensity nonuniformities induce a thermal peaking of the surface with lateral thermal gradients that are by no means negligible. Experimental evidence during laser glass polishing that confirms the numerical assessments are also provided.     

Expression of transporter associated with antigen processing-1 in the endocrine cells of human pancreatic islets: effect of cytokines and evidence of hyperexpression in IDDM

Increased knowledge of the biochemical composition of the glomerular basement membrane (GBM) and the introduction of molecular genetics has shed new light on the hereditary disorders of the GBM. In this review three disorders are highlighted. About 85% of the cases reported as Alport syndrome are transmitted as the X-linked form and are due to mutations of the COl4A5 chain localized at Xq22. The autosomal recessive form can be explained by mutations in the COl4A3 and COl4A4 gene. Anti-GBM nephritis leading to loss of the renal allograft in about 1%-5% of transplanted Alport patients can be the tragic consequence of this disorder. Some patients with familial benign hematuria have an abnormality of COl4A4. The nail-patella syndrome is a rare autosomal dominant disorder defined by the association of nail dysplasia, bone abnormalities, and frequently renal disease. The gene is localized in region 9q34.1, COl5A1 is not involved. The Finnish type is the best known of the different forms of congenital nephrotic syndrome. The gene has been mapped to the long arm of chromosome 19. Diffuse mesangial sclerosis occurs in the isolated form and as part of the Denys Drash syndrome. Disturbances of the WT1 function in the epithelial cells can have a role in the renal abnormalities of the Denys Drash syndrome.     

Measuring discontinuities in the ter river

In this paper a method for measuring discontinuities in the spatial organization of a river produced by disturbances is presented. First of all, a way of doing comparable environmental gradients defined by different variables is proposed. To do so, all the variables have been transformed by means of the equation: P_i' = P_i - P_min/P_max - P_min, as a previous measure of the parametric distances (P_ij') between sites. When these parametric distances are plotted in relation to the geographical ones, the distortion between both river images appears as an expression of the changes occurring in each stretch, and the derivative dP_ij'/dx is a measure of its rate of change. To define a river gradient, we need to calculate the general trend of a variable, using direct gradient analysis. The fit of the results obtained from an undisturbed stretch to an empirical curve for all the river gives us a measure of the expected values for that river. The difference between expected and observed values can be a measure of the discontinuity. The same procedure has been used for an overall environmental and biological data. To this end, the Euclidean distance (ED) and a distance obtained from Factor score of a Principal Components analysis (PCA) have been calculated. Only the second method seems to be of general interest for studying discontinuities. Finally, the results of the first score loadings obtained from PCA of three groups of variables (physical and chemical, physiographical and morphological, and phytobenthic) have been used to do a comparison between the parametric images of the River Ter.     

The detection of the sleep apnea syndrome in a population of professional drivers

The aim of this study was to reduce the risk of traffic accidents related to obstructive sleep apnea syndrome (OSAS) by means its detection and treatment in a group of 100 commercial drivers from Seville. Besides, to analyze which clinical findings could suggest OSAS. By means a questionnaire we selected subjects without (questionnaire score < 10 points) and with (questionnaire score > or = 10) clinical history of OSAS. In cases with score > or = 10, an overnight home polygraphy was carried out (Apnoescreen II, Jaeger), with measurement of oronasal airflow, chest and abdominal movements, oxygen saturation, electrocardiogram, body position and actimetry. We performed a manual analysis of recordings, and polygraphy was considered to be positive for OSAS if both AHI (respiratory events Index) or DI (desaturation Index) were > or = 10. In these positive cases, overnight conventional polysomnography was carried out (SleepLab, Jaeger), with therapeutic tests with CPAP if OSAS was diagnosed (AHI > or = 10). Average age and BMI (Body Mass Index) were 41.5 +/- 0.9 years and 28.2 +/- 0.4 kg/m2. Questionnaire was positive in 59 subjects, in 35 of whom home polysomnography was done. We did not find differences in age, BMI, neck circumference or symptomatology among these 35 drivers and the 24 remaining subjects in whom home polygraphy was not performed. Home polygraphy was positive in 10 subjects and negative In 25. Drivers in first group were older, heavier and complaint more frequently about snoring, sleep apnea and daytime sleepiness. We did not find differences in neck circumference, waist/hip ratio nor alcohol consumption between both groups. From the group with positive polygraphy, we performed conventional polysomnography in 8 cases and OSAS was diagnosed in 5 (in all cases, treatment with CPAP was started). This study does not provide data about prevalence, but it seems that the percentage of our drivers with OSAS could be lightly higher than the prevalence in general population. These subjects seem to be older, heavier and complaint more frequently about snoring, sleep apnea and daytime sleepiness.     

Study of the refirming effect of a plant complex

Loss of skin elasticity is one of the main problems of ageing. This is a mechanical property influenced by elastin, a protein in the dermis which, together with collagen and glycosaminoglycans, makes up the connective tissue. This tissue is affected by a large number of events (such as cutaneous ageing, pregnancy, slimming processes and cellulitis) which eventually cause it to change. At the same time, the metabolism of the proteins of the connective tissue decreases and there is an ever greater presence of enzymes, principally elastases and collagenases, which are responsible for breaking down the elastin and the collagen. One way to prevent such a loss of elasticity is to use active ingredients that are able to inhibit elastase enzymes. A plant complex was prepared using the following plants: lady's thistle (Silybum marianum GAERTN), alchemilla or yarrow (Alchemilla vulgaris L.), horsetail (Equisetum arvense L.) as well as germinated seeds (Glycine soja Siebold and Zucc., Triticum vulgare Vilars, Medicago sativa L., Raphanus sativus L.). The complex was standardized to give the corresponding active principles, silybin, tannins, silicon and peptides, respectively, and in vitro enzymatic tests were carried out to establish its ability to inhibit elastase. The study of enzymatic inhibition was carried out using two enzymes: (1) porcine pancreatic elastase (PPE), and (2) human leukocyte elastase (HLE). The results showed that the plant complex presents non-competitive inhibition in the order of 41.0% against PPE and 50.0% against HLE. An in vivo test was made alongside the in vitro test using an SEM 474 Cutometer (Courage & Khazaka) to study the elasticity of the skin, and positive effects were obtained when applying a cosmetic formulation containing 5% of the plant complex. Image analysis of duplicates of the cutaneous surface, before and after treatment began with a product containing 5% of plant complex and showed that wrinkles were decreased by 36.7%.     

Endotoxin contamination may be responsible for the unexplained failure of human pancreatic islet transplantation

India ink and radioactive 51Cr-labeled microspheres were used in separate trials to examine the role of the yolk stalk lumen as a distinct pathway between the yolk sac and gut through the first 5 d of posthatch growth in broiler chicks. Throughout this period, India ink was able to pass from the yolk sac through the yolk stalk and into the intestine, but was not able to pass from the intestine into the yolk stalk or yolk sac. Furthermore, labeled microspheres moved from the yolk sac via the yolk stalk into the gut; which caused the total counts per minute of the intestine, yolk stalk, and excreta to progressively increase. It was concluded that India ink and 51Cr-labeled microspheres were useful materials in establishing that the yolk stalk provides a direct one-way passage by which material in the yolk sac may move into the intestine of broiler chicks during the first 5 d after hatching.