Sitosterol xanthomatosis

BACKGROUND: Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis. OBJECTIVE: To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease. METHODS: We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate. RESULTS: Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment. CONCLUSION: It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.     

House-level risk factors for triatomine infestation in Colombia

BACKGROUND: Chagas disease, transmitted domestically by triatomine bugs, is the most important vector-borne disease in Latin America. The association between triatomine infestation and housing characteristics was investigated based on a standardized survey in 41 971 houses in 15 Departments in Colombia. METHODS: Multivariate logistic regression was used to test for associations of two highly correlated infestation measures of infestation (householders reporting having seen triatomines inside the house, and sending triatomines to the survey team), with 15 household-level risk factors. Risks were measured relative to a reference category of houses with up to three inhabitants, area up to 50 m(2), unplastered adobe walls, thatch roof and no outbuildings or domestic animals. RESULTS: The probability of seeing triatomines was highest for households with over seven inhabitants (OR = 1.24, 95% CI 1.11-1.39), overhead storage space (OR = 1.16, 95% CI 1.03-1.32), grain shed (OR = 1.25, 95% CI 1.02-1.52), cats (OR = 1.27, 95% CI 1.14-1.42) and pigs (OR = 1.16, 95% CI 1.03-1.30). Lowest risks were in houses with wooden walls (OR = 0.46, 95% CI 0.34-0.61), fully plastered walls (OR = 0.78, 95% CI 0.68-0.88), roofs made of tiles (OR = 0.51, 95% CI 0.33-0.78) and flagstone floors (OR = 0.57, 95% CI 0.42-0.76). Results for householders returning triatomines support this set of risk factors, but with wider confidence intervals. CONCLUSIONS: Surveillance of a few easily assessed household characteristics provides an accurate, rapid assessment of house-level variation in risk. Measured effect sizes for specific structural characteristics could be used to maximize the cost-effectiveness of programmes to reduce vector infestation and interrupt Chagas disease transmission by improving house quality.     

Optimal HIV testing and earlier care: the way forward in Europe

The articles in this supplement were developed from a recent pan-European conference entitled 'HIV in Europe 2007: Working together for optimal testing and earlier care', which took place on 26–27 November in Brussels, Belgium. The conference, organized by a multidisciplinary group of experts representing advocacy, clinical and policy areas of the HIV field, was convened in an effort to gain a common understanding on the role of HIV testing and counselling in optimizing diagnosis and the need for earlier care. Key topics discussed at the conference and described in the following articles include: current barriers to HIV testing across Europe, trends in the epidemiology of HIV in the region, problems associated with undiagnosed infection and the psychosocial barriers impacting on testing. The supplement also provides a summary of the World Health Organization's recommendations for HIV testing in Europe and an outline of an indicator disease-guided approach to HIV testing proposed by a committee of experts from the European AIDS Clinical Society (EACS). We hope that consideration of the issues discussed in this supplement will help to shift the HIV field closer towards our ultimate goal: provision of optimal HIV testing and earlier care across the whole of the European region.     

The PML/RAR alpha oncoprotein is a direct molecular target of retinoic acid in acute promyelocytic leukemia cells

Acute promyelocytic leukemia (APL) is characterized by the translocation, t(15;17) and the expression of a PML/RAR alpha fusion protein that is diagnostic of the disease. There is evidence that PML/RAR alpha protein acts as a dominant negative inhibitor of normal retinoid receptor function and myeloid differentiation. We now show that the PML/RAR alpha fusion product is directly downregulated in response to retinoic acid (tRA) treatment in the human APL cell line, NB4. tRA treatment induces loss of PML/RAR alpha at the protein level but not at the level of mRNA, as determined by Northern blots, by Western blots, and by ligand binding assays and in binding to RA- responsive DNA elements. We present evidence that this regulation is posttranslational. This evidence suggests that tRA induces synthesis of a protein that selectively degrades PML/RAR alpha. We further show that this loss of PML/ RAR-alpha is not limited to the unique APL cell line. NB4, because PML/RAR alpha protein is selectively downregulated by tRA when expressed in the transfected myeloid cell line U937. The loss of PML/RAR alpha may be directly linked to tRA-induced differentiation, because in a retinoid-resistant subclone of NB4, tRA does not decrease PML/RAR alpha protein expression. In NB4 cells, the specific downregulation of the fusion protein decreases the ratio of PML/RAR alpha to wild-type RAR alpha. Because the ratio of expression of PML/RAR alpha to wild-type RAR alpha and PML may be important in maintaining the dominant negative block of myelocytic differentiation, these data suggest a molecular mechanism for restoration by tRA normal myeloid differentiation in APL cells.     

Malignant lymphoma of the head and neck

Oral Diseases (2010) 16 , 119–128 Malignant lymphomas represent approximately 5% of all malignant neoplasms of the head and neck area. They are classically divided into two subgroups, Hodgkin’s lymphomas (HLs) and non‐Hodgkin’s lymphomas (NHLs). We describe the clinical characteristics of head and neck lymphomas and the methods to establish the diagnosis. The World Health Organization classification of lymphoid tissues describes more than 50 different histological types, and we analyse the most common staging system for lymphomas, the Ann Arbor staging system. Finally, the different therapeutic approaches are discussed.     

Bioaccumulation assessment via an adapted multi-species soil system (MS·3) and its application using cadmium

This paper presents an experimental design for quantifying the transfer of chemicals at low trophic levels of terrestrial ecosystems. The soil microcosms, MS·3_foodchain (food chain multi-specie soil system) covered the transfer from soil to earthworms (Eisenia fetida) and from soil to plant (Triticum aestivum), then to phytophagus (Rhopalosiphum padi) and finally predator (Chrysoperla carnea) species. Cadmium was used as model pollutant. Cadmium accumulation in foliar invertebrates was related to the species biology. A significant transfer of this metal through the minimized food chain was found for all species, but not a biomagnification in the predator species. Results pointed out the relevance of foliar invertebrates and their trophic relationships as additional exposure routes for assessing secondary poisoning in predators. Hence, MS·3_foodchain, could be applied for terrestrial environmental risk assessment when potential bioaccumulation could be expected.