Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.

Introduction: The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%-60% of patients with pigmentary mosaicism, and in more than 80%, chromosomal abnormalities are present in the mosaic state. In patients with pigmentary mosaicism the most representative chromosomes involved in sSMCs are 3, 5, 6, 9, 10, 13, 15, 18, 20, and X. In this study, we included the complete clinical, cytogenetic, and molecular characterization of seven patients with pigmentary mosaicism associated with the presence of SMCs of different chromosomal origins. Methods: The patients were diagnosed by the Genetics and Dermatology Department of three different hospitals. Cytogenetic and FISH analyses were performed on peripheral blood, light skin, and dark skin. FISH analysis was performed using different probes, depending on the marker chromosome description. Different array analysis was performed. Results: To date, of the seven cases studied, the chromosomal origins of six were successfully identified by FISH or array analysis. The chromosomes involved in SMCs were 6, 9, 15, and 18, X. The most frequently found was the centric minute structure. Discussion: To date, this group of seven patients constitutes the largest clinical and cytogenetically finely described study of cases with pigmentary mosaicism associated with sSMCs. Undoubtedly, analysis of the two skin types is a fundamental part of our study, as numerical differences may occur in the cell lines found in each skin type. The knowledge generated in this study will help delineate a very heterogeneous entity more accurately, and in the future, analyzing more patients with PM will likely establish a more definite association with the presence of this genetic alteration.

Effectiveness and predictors of failure of noninvasive mechanical ventilation in acute respiratory failure.

OBJECTIVE: To assess the effectiveness and identify predictors of failure of noninvasive ventilation. DESIGN: A retrospective, longitudinal descriptive study was made. SETTING: Adult patients with acute respiratory failure. PATIENTS: A total of 410 consecutive patients with noninvasive ventilation treated in an Intensive Care Unit of a tertiary university hospital from 2006 to 2011. PROCEDURES: Noninvasive ventilation. MAIN VARIABLES OF INTEREST: Demographic variables and clinical and laboratory test parameters at the start and two hours after the start of noninvasive ventilation. Evolution during admission to the Unit and until hospital discharge. RESULTS: The failure rate was 50%, with an overall mortality rate of 33%. A total of 156 patients had hypoxemic respiratory failure, 87 postextubation respiratory failure, 78 exacerbation of chronic obstructive pulmonary disease, 61 hypercapnic respiratory failure without chronic obstructive pulmonary disease, and 28 had acute pulmonary edema. The failure rates were 74%, 54%, 27%, 31% and 21%, respectively. The etiology of respiratory failure, serum bilirubin at the start, APACHEII score, radiological findings, the need for sedation to tolerate noninvasive ventilation, changes in level of consciousness, PaO2/FIO2 ratio, respiratory rate and heart rate from the start and two hours after the start of noninvasive ventilation were independently associated to failure. CONCLUSIONS: The effectiveness of noninvasive ventilation varies according to the etiology of respiratory failure. Its use in hypoxemic respiratory failure and postextubation respiratory failure should be assessed individually. Predictors of failure could be useful to prevent delayed intubation.

Current prevalence of Dirofilaria immitis in dogs, cats and humans from the island of Gran Canaria, Spain.

The island of Gran Canaria is a hyperendemic area for canine dirofilariasis. The aim of the present study was to provide data on Dirofilaria immitis in dogs, cats, and humans on this island in 2010. The data confirms the prevalence in the overall canine population (19%), with a considerably higher prevalence (43%) in the autochthonous breed of Canarian Warren hound. The prevalence in the feline population (33%) is higher than that of the canine population, and the existence of specific D. immitis antibodies in the inhabitants of the island of Gran Canaria (12%) is confirmed. In both cats and humans, the prevalence, according to the different climate areas on the island, is related to the prevalence of D. immitis in dogs in the same area, which shows the key epidemiological role played by the canine host with regard to the transmission to other hosts of D. immitis.

Epidemiological survey of canine heartworm disease on the island of Gran Canaria (Canary Islands - Spain) between 2000 and 2008.

Canine cardiopulmonary dirofilariosis caused by Dirofilaria immitis is endemic on the island of Gran Canaria. Epidemiological surveys have shown differences in the prevalence of heartworm disease in the canine population of the island between 1989 and 1998. The aim of the present study was to follow-up the prevalence of D. immitis in both the canine population as a whole and the Canarian Warren Hound population on Gran Canaria between 2000 and 2008. Prevalences observed were always significantly higher in the Canarian Warren Hound population than in the entire canine population. A significant decrease in the prevalence (from 30.19% to 19.36%) in the whole population was observed. In the Canarian Warren Hound the prevalence decreased slightly between 2000 and 2007 (40.42-34.65%), rising in 2008 to values higher than those observed at the beginning of follow-up study (41.6%). These changes are mainly attributed to lack of preventive chemotherapy and the prolonged exposure of the Canarian Warren Hound to mosquito bites. As this breed can act as a natural reservoir in Gran Canaria, regular surveillance is needed to detect changes in the epidemiological picture on this island.

Adult Dirofilaria immitis excretory/secretory antigens upregulate the production of prostaglandin E2 and downregulate monocyte transmigration in an "in vitro" model of vascular endothelial cell cultures.

Canine and feline cardiopulmonary dirofilariosis caused by Dirofilaria immitis is a chronic and potentially fatal disease. Adult worms live in the pulmonary arteries of infected immunocompetent hosts for years. The aim of the present study is the identification of the influence of the metabolic products (excretory/secretory antigens, DiE/S) of D. immitis on the vascular endothelial cells, because the vascular endothelium interplays in a direct manner with the parasite and their products. For this purpose, HAAE-1 vascular endothelial cells were treated with DiE/S, using non-treated cultures as negative controls. Significant increases in the COX-2, 5-LO expression and PGE(2) level were detected in the treated cells compared with the control cells. Moreover, DiE/S decreases monocyte transmigrations across vascular endothelial cell monolayers. Treatment with DiE/S does not have a cytotoxic effect and do not alter apoptosis, necrosis or cell cycle of vascular endothelial cells. These results suggest that the DiE/S stimulates the production of mediators and mechanisms that favor the survival of the parasite, in vascular endothelial cells, contributing to restrict vascular and lung damages in the infected host, without altering the basic physiologic processes of endothelial cells.

Presence and persistence of intestinal parasites in canine fecal material collected from the environment in the Province of Chubut, Argentine Patagonia.

We investigated the presence of intestinal parasites in canine feces collected from public squares in Comodoro Rivadavia, Chubut, Argentina (45 degrees S, 68 degrees W) and determined the persistence of Echinococcus granulosus eggs in those droppings under natural environmental conditions in that region. In the first experiment, we analyzed 163 fecal samples collected from urban squares during 8 months time and found parasitic elements in 46.6%. The presence of parasites was independent of the condition of the feces (fresh or dried; P>0.05). Parasites potentially pathogenic in man were present, such as Toxocara species (spp.), Taenia spp./Echinococcus spp., Uncinarias spp., and Entamoeba spp. In the second experiment, we analyzed two canine fecal samples contaminated with E. granulosus eggs, deposited for 41 months within the natural environment. These parasitic elements persisted during the entire study as attested by light microscopy and the ELISA coproantigen test. We propose the study of the presence of intestinal parasites in canine feces within the environment as a general strategy for identifying and monitoring areas of risk for canine-related zoonoses since we were able to demonstrate the persistence of E. granulosus eggs in deposited canine feces for over 3 years within the area studied.