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Spinal muscular atrophy (SMA) has a prevalence of one in 6000 births and a one in 40 heterozygote frequency. We aimed to develop a routine test for non-invasive prenatal diagnosis. We tested blood with ISET (isolation by size of epithelial tumour or trophoblastic cells) in 12 pregnant women whose babies were at risk of SMA. Using genetic analysis of fetal cells, we identified SMA in all nine isolated from the three mothers carrying an affected child. There was no mutation in any of the 26 fetal cells isolated from the nine women with an unaffected child. Our results show that non-invasive detection of genetic diseases by the analysis of maternal blood is feasible. [Copyright &y& Elsevier]

Dietary supplements in polyunsaturated fatty acids (PUFA), particularly omega-3, are well known for the beneficial role that they play in preventing cardiovascular diseases. The aim of this study was to determine the role of PUFA on the modulation of apoptosis induced by hypochlorous acid oxidized LDL (HOCl-oxLDL) in U937 monocytic cell lines, and the impact on atherosclerosis in Apolipropotein E-knockout (ApoE-/-) mice. We tested the potential effect on modulation of HOCl-oxLDL-induced apoptosis after a cellular membrane overloading with eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA), arachidonic acid (ARA) or oleic acid (OA). We showed that both EPA and ARA, exerted a pro-apoptotic effect through a specific activation of the intrinsic mitochondrial apoptotic pathway including an increase in DNA fragmentation, a specific activation of caspase activity and protein expression and a loss of mitochondrial membrane potential. In parallel, three groups of ApoE-/- mice were fed on diet supplemented with EPA, or DHA, or not, for 5- or 12-weeks. Whatever the treatment, serum cholesterol concentrations were similar in the three groups and PUFA supplementation do not appeared to prevent development of atherosclerotic plaques measured by oil red O-staining of descending aorta or aortic sinus. These data demonstrate a novel function of dietary supplements in PUFA with likely consequences in apoptosis in cultured monocytes, with no protection against atherosclerosis development in ApoE-/- mice. [Copyright &y& Elsevier]

An abstract of the article "Identification of crystals in kidneys of AIDS patients treated with foscarnet," by L. Maurice-Estepa, M. Daudon, C. Katlama, C. Jouanneau, V. Sazdovitch, B. Lacour and H. Beaufils is presented.

Abstract: Dielectric Barrier Discharge (DBD) appears to be a promising technology to perform surface treatments at atmospheric pressure, particularly for the treatments of large-dimension flat objects for on-line industrial applications. Besides the fact of allowing short treatment times, the advantage of atmospheric pressure is the suppression of constraints correlated to the implementation of vacuum devices necessary for low pressure treatments. But at the present time, if this technology showed its ability for the surface cleaning, it is not still the case for thin film deposition over large surfaces, due to an insufficient homogeneity of the deposited layers. This lack of homogeneity is the main present problem limiting the use of DBD in PACVD. The study of the layer''s uniformity leads us to search links between the internal physical phenomena inside the reactor and the layer''s properties. This paper is focused to the study of the spatial homogeneity of SiO x thin films deposited over large surfaces by using an atmospheric pressure DBD with N2/O2/HMDSO gas mixture. The results presented in this paper show that it is possible to understand the homogeneity variations of deposited layers by simultaneously making the link between the deposited power in plasma (taking into account both the energy per pulse and the pulse repetition frequency) and the gas hydrodynamics in the flow boundary layer. [Copyright &y& Elsevier]

This paper describes the incidence and survival of childhood central nervous system (CNS) tumours in Europe for the period 1978-1997. A total of 19,531 cases, aged 0-14 years, from the ACCIS database were analysed by five regions: the British Isles, East, North, South, and West. Overall age-standardised incidence rate (ASR) of CNS tumours in Europe (1988-1997) was 29.9 per million, with the highest rates in the North. Astrocytoma (ASR=11.8), primitive neuroectodermal tumours (PNET) (ASR=6.5) and ependymoma (ASR=3.4) were the most frequent types. Incidence increased significantly during 1978-1997, on average by 1.7% per year. Diagnostic methods may partially explain incidence rates and trends, although a role of variations in risk factors cannot be excluded. Overall 5-year survival was 64% and varied between 72% in the North and 53% in the East. PNET had the poorest prognosis (49%) and astrocytoma the best (75%). Survival has improved by 29% since late 1970s. The positive trends were seen in all regions, although the interregional differences persisted, as a reflection of the different healthcare systems. [ABSTRACT FROM AUTHOR]

In collaboration with 62 population-based cancer registries contributing to the Automated Childhood Cancer Information System (ACCIS), we built a database to study incidence and survival of children and adolescents with cancer in Europe. We describe the methods and evaluate the quality and internal comparability of the database, by geographical region, period of registration, type of registry and other characteristics. Data on 88,465 childhood and 15,369 adolescent tumours registered during 1978-1997 were available. Geographical differences in incidence are caused partly by differences in definition of eligible cases. The observed increase in incidence rates cannot be explained by biases due to the selection of datasets for analyses, and only partially by the registration of non-malignant or multiple primary tumours. Part of the observed differences in survival between the regions may be due to variable completeness of follow-up, but most is probably explained by resource availability and organisation of care. Further standardisation of data and collection of additional variables are required so that this study may continue to yield valuable results with reliable interpretation. [ABSTRACT FROM AUTHOR]

Survival for childhood central nervous system (CNS) tumours varies across Europe, partly because of the difficulty of distinguishing malignant from non-malignant disease. This study examines bias in CNS tumours survival analysis to obtain the reliable and comparable survival figures. We analysed survival data for about 15,000 children (age <15) diagnosed with CNS between 2000 and 2007, from 71 population-based cancer registries in 27 countries. We selected high-quality data based on registry-specific data quality indicators and recorded observed 1-year and 5-year survival by countries and CNS entity. We provided age-adjusted survival and used a Cox model to calculate the hazard ratios (HRs) of death, adjusting by age, site and grading by country. Recording of non-malignant lesions, use of appropriate morphology codes and completeness of life status follow-up differed among registries. Five-year survival by countries varied less when non-malignant tumours were included, with rates between 79.5% and 42.8%. The HRs of dying, for registries with good data, adjusting by age and grading, were between 0.7 and 1.2; differences were similar when site (supra- and infra-tentorial) was included. Several sources of bias affect the correct definition of CNS tumours, the completeness of incidence series and the goodness of follow-up. The European Network of Cancer Registries needs to improve childhood cancer registration and stress the need to update the International Classification for Cancer. Since survival differences persisted even when restricting the analysis to registries with satisfactory data, and since diagnosis of CNS tumours is difficult and treatment complex, national plans must aim for the revision of the diagnosis and the coordination of care, with adequate national and international networks. [ABSTRACT FROM AUTHOR]

Abstract: In this study, we show that detoxifying W/O/W multiple emulsions, prepared with an appropriate extractant/trapping couple, represent a promising technology for quick and safe poisoning treatments, with application to the highly toxic herbicide Paraquat, responsible of poisonings from low-dose exposure leading to several deaths every year. In vitro tests led to the choice of an appropriate extractant/trapping couple system with significant detoxication performance. In vivo tests showed (i) that rats receiving high doses of Paraquat, then a detoxifying emulsion, presented an increase from 50% to 100% of the MST (median survival time) and (ii) that no mortality was observed during 30 days with rats dosed with emulsions initially loaded with Paraquat at a concentration much higher than the lethal dose, proving the stability and the inocuity of the detoxifying multiple emulsion in the gastrointestinal tract. [Copyright &y& Elsevier]

The aim of this study was to describe the overall survival after childhood cancer in France using follow-up data from regional population-based registries. The survival of children (aged under 15 years) diagnosed with a cancer during 1990-1999 was analysed. For all cancers, the survivals were, respectively, 90.3% [89.4-91.3] at 1-year, 75.2% [73.8-76.6] at 5 years and 72.2% [70.7-73.7] at 10 years. During the 1990s, the average improvement in the 5-year survival was +1.2% per year. Adjusted for gender, age, area of residence and stage, children with cancer diagnosed between 1995 and 1999 had a 0.80 reduced risk of dying compared with those whose cancer had been diagnosed between 1990 and 1994. The increase of survival at the population level reflects a global improvement in childhood cancer care. The Paediatric Registries, in association with the French Society of Childhood Cancer, are now collecting data to quantify on a national basis the other events, at least relapse and second cancers. [ABSTRACT FROM AUTHOR]

The number of chronic kidney disease (CKD) patients and related adverse outcomes has dramatically increased worldwide in the past decade. Therefore, numerous experimental and clinical studies have recently addressed the underlying mechanisms, in particular the marked increase in cardiovascular mortality. Hyperphosphatemia is a major problem in these patients with advanced stage of CKD. Its control by calcium-containing phosphate binders is effective, but at the price of potentially noxious calcium overload. Sevelamer hydrochloride is a phosphate binder that offers an effective control of hyperphosphatemia as calcium-rich binders but without increase of calcium load. Beyond the control of phosphate, sevelamer seems to exert pleiotropic effects which include the correction of lipid abnormalities and the clearance of some uremic toxins.Kidney International (2006) 70, S16–S23. doi:10.1038/sj.ki.5001994 [ABSTRACT FROM AUTHOR]

Data on 1690 childhood and adolescent cases of thyroid cancer registered in 61 European cancer registries were extracted from the database of the Automated Childhood Cancer Information System (ACCIS) and included in analyses of incidence and survival. In 1988-1997, the age-standardised incidence rates (ASR) for children aged 0-14 years varied in European regions from 0.5 to 1.2 per million and the age-specific incidence in adolescents aged 15-19 years ranged from 4.4 to 11.0 per million. Over the age-span 0-19 years, the female to male ratio increased from 1 to around 3. Papillary thyroid cancer accounted for almost 65% of cases in children and 77% in adolescents. In the childhood population of Belarus, the ASR for 1989-1997 was 23.6 per million and the proportion of papillary tumours was 87%. No association was found between thyroid cancer risk and national dietary iodine status across 16 countries. Incidence of thyroid carcinoma among children and adolescents in Europe (excluding Belarus) increased during 1978-1997 by 3% per year, largely due to papillary carcinoma. Survival of children and adolescents was high over the entire study period and in all regions of Europe. Children with medullary carcinoma had slightly lower 5-year survival (95%, 95% CI 81-99), than those with papillary carcinoma (99%, 95% CI 95-100). More than 90% of patients survived 20 years after diagnosis. Further standardisation of diagnostic, classification and registration criteria will be fundamental for future studies of thyroid carcinomas in young people. [ABSTRACT FROM AUTHOR]