Case-Control Cohort Study of Patients' Perceptions of Disability in Mastocytosis

BACKGROUND: Indolent forms of mastocytosis account for more than 90% of all cases, but the types and type and severity of symptoms and their impact on the quality of life have not been well studied. We therefore performed a case-control cohort study to examine self-reported disability and impact of symptoms on the quality of life in patients with mastocytosis. METHODOLOGY/PRINCIPAL FINDINGS: In 2004, 363 mastocytosis patients and 90 controls in France were asked to rate to their overall disability (OPA score) and the severity of 38 individual symptoms. The latter was used to calculate a composite score (AFIRMM score). Of the 363 respondents, 262 were part of an ongoing pathophysiological study so that the following data were available: World Health Organization classification, standard measures of physical and psychological disability, existence of the D816V KIT mutation, and serum tryptase level. The mean OPA and AFIRMM scores and the standard measures of disability indicated that most mastocytosis patients suffer from disabilities due to the disease. Surprisingly, the patient's measurable and perceived disabilities did not differ according to disease classification or presence or absence of the D816V KIT mutation or an elevated (> or = 20 ng/mL) serum tryptase level. Also, 32 of the 38 AFIRMM symptoms were more common in patients than controls, but there were not substantial differences according to disease classification, presence of the D816V mutation, or the serum tryptase level. CONCLUSIONS: On the basis of these results and for the purposes of treatment, we propose that mastocytosis be first classified as aggressive or indolent and that indolent mastocytosis then be categorized according to the severity of patients' perceived symptoms and their impact on the quality of life. In addition, it appears that mastocytosis patients suffer from more symptoms and greater disability than previously thought, that mastocytosis may therefore be under-diagnosed, and that the symptoms of the indolent forms of mastocytosis might be due more to systemic release of mediators than mast cell burden

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

Adaptación al cambio climático en la gestión de los recursos hídricos de los Pirineos [Informe]. Memorias científicas del proyecto PIRAGUA, vol. 2.

[EN] One PDF files with the pre-print version of the document; [ES] Un archivo PDF con la versión de pie-impresión del documento; [FR] Un fichier PDF avec la version pré-imprimée du document.[EN] To do[ES] Pendiente[FR] Pour faireThis report was developed within the project EFA210/16 PIRAGUA (“Evaluación y prospectiva de los recursos hídricos de los Pirineos en un contexto de cambio climático, y medidas de adaptación con impacto en el territorio / Evaluation et prospective des ressources en eau des Pyrénées dans un contexte de changement climatique, et mesures d’adaptation avec un impact sur le territoire”), co-funded by the European Regional Development Fund (ERDF) through the Interreg V-A Spain France Andorra program (POCTEFA 2014-2020) (65%) and the project’s partners: CSIC, UPV/EHU, UB, OE, IGME, CNRS, BRGM, INRAE and OBSA (35%).N

Adaptation au changement climatique dans la gestion des ressources en eau des Pyrénées. Mémoires scientifiques du projet PIRAGUA, vol. 2.

[EN] One PDF files with the pre-print version of the document; [ES] Un archivo PDF con la versión de pie-impresión del documento; [FR] Un fichier PDF avec la version pré-imprimée du document.[EN] Recent climate change is one of the main threats to the sustainability of human societies. The reports of the IPCC, the Paris Agreement or the United Nations Conferences on climate change attest to the global political interest in urgently taking action to mitigate climate change. Mitigation efforts, however, are not enough to minimize the negative consequences of climate change. It is necessary, in parallel to the mitigation measures, to develop adaptation strategies that make it possible to minimize the risks that climate change poses to societies. With a necessarily local focus, the development of adaptation strategies must be based on an assessment of the vulnerability of society as a whole or of sectors of it to the expected consequences of climate change. This volume explores options for adaptation to climate change in relation to the management of water resources in an important transboundary region such as the Pyrenees mountain range. After a general assessment of the region's water resources and their governance, seven local and regional case studies are presented where, in collaboration with the relevant stakeholders, different adaptation options are explored.[ES] El cambio climático reciente es una de las principales amenazas para la sostenibilidad de las sociedades humanas. Los informes del IPCC, el Acuerdo de París o las Conferencias de las Naciones Unidas sobre cambio climático atestiguan el interés político global por emprender con urgencia acciones para la mitigación del cambio climático. Los esfuerzos en mitigación, sin embargo, no son suficientes para minimizar las consecuencias negativas del cambio climático. Es necesario, en paralelo a las medidas de mitigación, desarrollar estrategias de adaptación que permitan minimizar los riesgos que supone el cambio climático para las sociedades. Con un enfoque necesariamente local, el desarrollo de estrategias de adaptación debe partir de una evaluación de la vulnerabilidad del conjunto de la sociedad o de sectores de ésta a las consecuencias esperables del cambio climático. En este volumen se exploran opciones de adaptación al cambio climático en relación con la gestión de los recursos hídricos de una importante región transfronteriza como es la cordillera de los Pirineos. Tras una evaluación general sobre los recursos hídricos de la región y su gobernanza, se presentan siete casos de estudio locales y regionales donde, en colaboración con los actores locales, se exploran diferentes opciones de adaptación.[FR] Le changement climatique récent est l'une des principales menaces à la durabilité des sociétés humaines. Les rapports du GIEC, l'Accord de Paris ou les Conférences des Nations Unies sur le changement climatique attestent de l'intérêt politique mondial à agir de toute urgence pour atténuer le changement climatique. Cependant, les efforts d'atténuation ne suffisent pas à minimiser les conséquences négatives du changement climatique. Il est nécessaire, parallèlement aux mesures d'atténuation, de développer des stratégies d'adaptation qui permettent de minimiser les risques que le changement climatique fait peser sur les sociétés. Dans une optique nécessairement locale, l'élaboration de stratégies d'adaptation doit reposer sur une évaluation de la vulnérabilité de la société dans son ensemble ou de secteurs de celle-ci aux conséquences attendues du changement climatique. Ce volume explore les options d'adaptation au changement climatique en relation avec la gestion des ressources en eau dans une région transfrontalière importante telle que la chaîne de montagnes des Pyrénées. Après une évaluation générale des ressources en eau de la région et de leur gouvernance, sept études de cas locales et régionales sont présentées où, en collaboration avec les acteurs locaux, différentes options d'adaptation sont explorées.This book has been supported by the European Regional Development Fund (ERDF) through the Interreg V-A Spain France Andorra program (POCTEFA 2014-2020), by Fundación Biodiversidad of the Spanish Ministry for the Ecologic Transition and Demographic Challenge, and the autor's institutions: CSIC, UPV/EHU, UB, OE, IGME, CNRS, BRGM, INRAE and OBSA.Peer reviewe

Frontière et paysage

Frontière (interétatique) et paysage constituent tous deux des représentations, un construit social et politique ou social et naturel marqués par l'appropriation individuelle et collective des populations et des opérateurs. A l'heure des parcs naturels transfrontaliers et des politiques des paysages y afférant, faut-il envisager d'effacer ou mieux d'apprivoiser la frontière

Reproductive health care for asylum-seeking women - a challenge for health professionals

BACKGROUND: Dealing with pregnancy, childbirth and the care of newborn babies is a challenge for female asylum seekers and their health care providers. The aim of our study was to identify reproductive health issues in a population of women seeking asylum in Switzerland, and to examine the care they received. The women were insured through a special Health Maintenance Organisation (HMO) and were attending the Women's Clinic of the University Hospital in Basel. We also investigated how the health professionals involved perceived the experience of providing health care for these patients. METHODS: A mixed methods approach combined the analysis of quantitative descriptive data and qualitative data obtained from semi-structured interviews with health care providers and from patients' files. We analysed the records of 80 asylum-seeking patients attending the Women's Clinic insured through an HMO. We conducted semi-structured interviews with 10 care providers from different professional groups. Quantitative data were analysed descriptively. Qualitative data analysis was guided by Grounded Theory. RESULTS: The principal health problems among the asylum seekers were a high rate of induced abortions (2.5 times higher than in the local population), due to inadequate contraception, and psychosocial stress due to the experience of forced migration and their current difficult life situation. The language barriers were identified as a major difficulty for health professionals in providing care. Health care providers also faced major emotional challenges when taking care of asylum seekers. Additional problems for physicians were that they were often required to act in an official capacity on behalf of the authorities in charge of the asylum process, and they also had to make decisions about controlling expenditure to fulfil the requirements of the HMO. They felt that these decisions sometimes conflicted with their duty towards the patient. CONCLUSION: Health policies for asylum seekers need to be designed to assure access to adequate contraception, and to provide psychological care for this vulnerable group of patients. Care for asylum seekers may be emotionally very challenging for health professionals

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