Phenotypic and genotypic characteristics of mastocytosis according to the age of onset.

International audienceAdult's mastocytosis is usually associated with persistent systemic involvement and c-kit 816 mutation, while pediatrics disease is mostly limited to the skin and often resolves spontaneously. We prospectively included 142 adult patients with histologically proven mastocytosis. We compared phenotypic and genotypic features of adults patients whose disease started during childhood (Group 1, n = 28) with those of patients whose disease started at adult's age (Group 2, n = 114). Genotypic analysis was performed on skin biopsy by sequencing of c-kit exons 17 and 8 to 13. According to WHO classification, the percentage of systemic disease was similar (75 vs. 73%) in 2 groups. C-kit 816 mutation was found in 42% and 77% of patients in groups 1 and 2, respectively (p<0.001). 816 c-kit mutation was associated with systemic mastocytosis in group 2 (87% of patients with systemic mastocytosis vs. 45% with cutaneous mastocytosis, p = 0.0001). Other c-kit activating mutations were found in 23% of patients with mastocytosis' onset before the age of 5, 0% between 6 and 15 years and 2% at adults' age (p<0.001). In conclusion, pathogenesis of mastocytosis significantly differs according to the age of disease's onset. Our data may have major therapeutic relevance when considering c-kit-targeted therapy

Molybdenum solubility in aluminium nitrate solutions

International audienceFor over 60 years, research reactors (RR or RTR for research testing reactors) have been used as neutron sources for research, radioisotope production ($^{99}$Mo/$^{99m}$Tc), nuclear medicine, materials characterization, etc… Currently, over 240 of these reactors are in operation in 56 countries. They are simpler than power reactors and operate at lower temperature (cooled to below 100°C). The fuel assemblies are typically plates or cylinders of uranium alloy and aluminium (U-Al) coated with pure aluminium. These fuels can be processed in AREVA La Hague plant after batch dissolution in concentrated nitric acid and mixing with UOX fuel streams. The aim of this study is to accurately measure the solubility of molybdenum in nitric acid solution containing high concentrations of aluminium. The higher the molybdenum solubility is, the more flexible reprocessing operations are, especially when the spent fuels contain high amounts of molybdenum. To be most representative of the dissolution process, uranium-molybdenum alloy and molybdenum metal powder were dissolved in solutions of aluminium nitrate at the nominal dissolution temperature. The experiments showed complete dissolution of metallic elements after 30minutes stirring, even if molybdenum metal was added in excess. After an induction period, a slow precipitation of molybdic acid occurs for about 15hours. The data obtained show the molybdenum solubility decreases with increasing aluminium concentration. The solubility law follows an exponential relation around 40g/L of aluminium with a high determination coefficient. Molybdenum solubility is not impacted by the presence of gadolinium, or by an increasing concentration of uranium

Memòria personal

Ce livre, résultat d'une collaboration entre universités des deux versants des Pyrénées, voudrait être un lieu de dialogue entre chercheurs venus d'horizons géographiques et disciplinaires différents qu'ils soient historiens, philologues ou encore historiens du droit. C'est là une caractéristique principale de ce travail dont les perspectives sont importantes. De prestigieux spécialistes y participent, apportant, chacun, sa manière d'aborder ces textes. Au-delà des coïncidences ou des divergences dans la définition terminologique, même dans les aspects les plus conceptuels qui sont débattus, il y a par dessus tout une volonté de créer un cadre commun de recherche. Écrit dans plusieurs langues, ce livre offre, d'une part, un regard, nouveau et pluriel, sur une source écrite à la première personne, subjective et complémentaire de « l'histoire officiele », et d'autre part la mise en avant de problématiques transversales comme le sont, par exemple, l'étude de la langue ou l'approche anthropologique.Los escritos personales o escritos del for privé son una de las fuentes más ricas recuperadas y utilizadas de manera interdisciplinar en el campo de las ciencias humanas. Este libro ofrece una mirada múltiple sobre esta cuestión a partir del trabajo conjunto de investigadores de ambos lados de los Pirineos, así como también italianos o ingleses. Cataluña está en el centro del enfoque científico adoptado en esta obra, debido a sus características y tradiciones en la producción de este tipo de textos.Si un àmbit s’erigeix com eminentment transdisciplinar, aquest és precisament el de l’estudi dels escrits personals, i més en l’època moderna. Historiadors, filòlegs, lingüistes i antropòlegs, entre altres, han hagut de compartir, aprendre uns dels altres i fer propostes contínues. L’estudi en comú dels casos d’àmbit especialment hispànic (català, valencià o castellà) i també europeu (italià i francès) té molta raó de ser. La llengua no és un dels fets fonamentals, sinó que també hi trobem raons de tradició escrita, jurídica, familiar, religiosa, econòmica, etc. que en el detall poden fer emergir diferències intangibles a primera vista. I, al contrari, l’anàlisi en la comparativa afavoreix els punts comuns, el coneixement de casos similars temàticament i cronològicament, que altrament haguessin quedat encoberts. En aquest llibre, el cas català apareix com un primer pas de comparativa més extensa, tenint en compte els esforços i aportacions fetes en aquest sentit fins a dia d’avui. Així, tot i existir una recerca similar, sovint metòdica i profunda, en països i territoris com Dinamarca, els Països Baixos, Lituània, Suïssa o Alemanya, entre d’altres, el llibre s’apropa a una visió més meridional de la qüestió, mantenint sempre en una mirada especial el cas anglès, ja que ha estat el bressol de la recerca local que ha potenciat els llibres personals en aplicació a la història, especialment

Primer positions are indicated from the c-Kit sequence published through the NCBI accession number X06182.

<p>Primer positions are indicated from the c-Kit sequence published through the NCBI accession number X06182.</p

Relationship between phenotype and genotype in patients with mastocytosis according to their age of onset.

<p>Data are expressed in number (percentage).</p

Exons 8 through 13 and 17 mutations according to mastocytosis age of onset.

<p>Data are expressed in number (percentage), 816: substitution of valine in 816 codon of <i>c-kit</i>, Other mutations: mutation in exons 8 through 13. WT: absence of mutation in exons 8 through 13 and 17. Complete genotype was not available for 4 816 WT patients; 1 patient in group 1A, 1 in group 1B and 2 in group 2.</p

Description of 5 adult patients with mastocytosis not related to 816 c-kit mutation.

<p>Description of 5 adult patients with mastocytosis not related to 816 c-kit mutation.</p

Mortality reduction by post-dilution online-haemodiafiltration : A cause-specific analysis

Background. From an individual participant data (IPD) meta-analysis from four randomized controlled trials comparing haemodialysis (HD) with post-dilution online-haemodiafiltration (ol-HDF), previously it appeared that HDF decreases all-cause mortality by 14% (95% confidence interval 25; 1) and fatal cardiovascular disease (CVD) by 23% (39; 3). Significant differences were not found for fatal infections and sudden death. So far, it is unclear, however, whether the reduced mortality risk of HDF is only due to a decrease in CVD events and if so, which CVD in particular is prevented, if compared with HD. Methods. The IPD base was used for the present study. Hazard ratios and 95% confidence intervals for cause-specific mortality overall and in thirds of the convection volume were calculated using the Cox proportional hazard regression models. Annualized mortality and numbers needed to treat (NNT) were calculated as well. Results. Besides 554 patients dying from CVD, fatal infections and sudden death, 215 participants died from 'other causes', such as withdrawal from treatment and malignancies. In this group, the mortality risk was comparable between HD and ol-HDF patients, both overall and in thirds of the convection volume. Subdivision of CVD mortality in fatal cardiac, non-cardiac and unclassified CVD showed that ol-HDF was only associated with a lower risk of cardiac casualties [0.64 (0.61; 0.90)]. Annual mortality rates also suggest that the reduction in CVD death is mainly due to a decrease in cardiac fatalities, including both ischaemic heart disease and congestion. Overall, 32 and 75 patients, respectively, need to be treated by high-volume HDF (HV-HDF) to prevent one all-cause and one CVD death, respectively, per year. Conclusion. The beneficial effect of ol-HDF on all-cause and CVD mortality appears to be mainly due to a reduction in fatal cardiac events, including ischaemic heart disease as well as congestion. In HV-HDF, the NNT to prevent one CVD death is 75 per year

Mortality reduction by post-dilution online-haemodiafiltration : A cause-specific analysis

Background. From an individual participant data (IPD) meta-analysis from four randomized controlled trials comparing haemodialysis (HD) with post-dilution online-haemodiafiltration (ol-HDF), previously it appeared that HDF decreases all-cause mortality by 14% (95% confidence interval 25; 1) and fatal cardiovascular disease (CVD) by 23% (39; 3). Significant differences were not found for fatal infections and sudden death. So far, it is unclear, however, whether the reduced mortality risk of HDF is only due to a decrease in CVD events and if so, which CVD in particular is prevented, if compared with HD. Methods. The IPD base was used for the present study. Hazard ratios and 95% confidence intervals for cause-specific mortality overall and in thirds of the convection volume were calculated using the Cox proportional hazard regression models. Annualized mortality and numbers needed to treat (NNT) were calculated as well. Results. Besides 554 patients dying from CVD, fatal infections and sudden death, 215 participants died from 'other causes', such as withdrawal from treatment and malignancies. In this group, the mortality risk was comparable between HD and ol-HDF patients, both overall and in thirds of the convection volume. Subdivision of CVD mortality in fatal cardiac, non-cardiac and unclassified CVD showed that ol-HDF was only associated with a lower risk of cardiac casualties [0.64 (0.61; 0.90)]. Annual mortality rates also suggest that the reduction in CVD death is mainly due to a decrease in cardiac fatalities, including both ischaemic heart disease and congestion. Overall, 32 and 75 patients, respectively, need to be treated by high-volume HDF (HV-HDF) to prevent one all-cause and one CVD death, respectively, per year. Conclusion. The beneficial effect of ol-HDF on all-cause and CVD mortality appears to be mainly due to a reduction in fatal cardiac events, including ischaemic heart disease as well as congestion. In HV-HDF, the NNT to prevent one CVD death is 75 per year