Éditeur(s) : HAL CCSD European Respiratory Society
Résumé : International audience
Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis. We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-Associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival. 237 patients with pulmonary fibrosis (153 with familial pulmonary fibrosis, 84 with telomere syndrome features without familial pulmonary fibrosis) were tested for TERT/TERC DAV. DAV was diagnosed in 40 patients (16.8%), including five with non-idiopathic interstitial pneumonia. Prevalence of TERT/TERC DAV did not significantly differ between patients with familial pulmonary fibrosis or with only telomere syndrome features (18.2% versus 16.4%). Young age, red blood cell macrocytosis, and low platelet count were associated with the presence of DAV; the probability of DAV was increased for patients 40-60 years. Transplant-free survival was lower with than without TERT/TERC DAV (4.2 versus 7.2 years; p=0.046). TERT/TERC DAV were associated with specific clinical and biological features and reduced transplantfree survival. ©ERS 2016.
ISSN: 0903-1936

hal-01467555
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555/file/Prevalence%20and%20characteristics%20of%20TERT.pdf
DOI : 10.1183/13993003.02115-2015

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Viral haemorragic fevers are characterized by similar clinical manifestations, with a biphasic course : After a 2-21 day-incubation, onset of an influenza-like illness, that will drive to an haemorragic syndrom with shock, in a subgroup of patients, unpredictable. Human-to-human transmission mostly occurs through contact with biological fluids, especially if contaminated with blood. The biology, the epidemiology and the letality of these viruses differ. For all these viral haemorragic fevers, the importance of an early diagnosis relies mostly in the need to interrupt human-to-human transmission, as therapeutic options are mostly restricted to symptomatic treatment, with the exception of Lassa fever (ribavirin probably effective).
Les fièvres hémorragiques virales regroupent plusieurs viroses, potentiellement graves, avec un tableau clinique relativement stéréotypé, d’évolution biphasique. Après une incubation de 2 à 21 jours, apparition d’un syndrome pseudo-grippal qui évolue au bout de quelques jours, de manière imprévisible, chez une proportion variable de patients, vers un syndrome hémorragique avec choc. La transmission interhumaine s’effectue le plus souvent par contacts avec des liquides biologiques, surtout en présence de sang. La biologie de ces virus, leur épidémiologie et leur létalité sont très variables. Pour toutes ces fièvres hémorragiques virales, l’importance d’un diagnostic rapide réside plus dans la nécessité d’interrompre les chaînes de transmission que dans les possibilités thérapeutiques, limitées aux traitements symptomatiques, à l’exception notable de la fièvre de Lassa (efficacité probable de la ribavirine).
ISSN: 1773-035X

hal-01299296
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01299296
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01299296/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01299296/file/Fi%C3%A8vres%20h%C3%A9morragiques%20virales_accepted.pdf
DOI : 10.1016/S1773-035X(16)30091-0

Éditeur(s) : HAL CCSD Elsevier Masson
Résumé : International audience
Background. An association with cancer is described in 17–32% of cases of dermatomyositis (DM) and in 5–16% of cases of anti-synthetase syndrome (ASS). The literature contains very few studies involving Afro-Caribbean patients with DM or ASS. The aim of our retrospective study was to determine the prevalence of cancer in a series of patients with DM or ASS at the University Hospital of Pointe-à-Pitre between 1st January 2000 and 31st December 2012. The secondary objective was to review the clinical and laboratory features as well as the course of DM/ASS in these patients.Patients and methods. The inclusion criteria were as follows: Afro-Caribbean origin; age >15 years; patient living in Guadeloupe; screening for malignancy.Results. Twenty-two patients were included (15 DM, 7 ASS). Only one case of cancer was diagnosed in the entire study population at a mean follow-up of 6±4 years (prevalence: 6.7%, CI95% [1.7–31.9]). Of the 15 patients presenting DM (sex ratio F/M: 4, mean age: 45±14 years), 6 (40%) had associated connective tissue disease.Conclusion. Our study suggests a weak association between DM and cancer in Afro-Caribbean patients. These results may be explained by the features of the disease seen in these patients (female gender, young age at onset, associated connective tissue disease) and the low prevalence in the Caribbean region of cancers typically associated with DM.
Introduction. Dix-sept à 32 % des cas de dermatomyosite (DM) et 5 à 16 % des cas de syndrome des anti-synthétases (SAS) sont associés à un cancer. Les séries de patients afro-caribéens atteints de DM ou de SAS sont exceptionnellement rapportées dans la littérature. Le but de notre étude rétrospective était d’estimer la prévalence des cancers dans une série de patients guadeloupéens atteints de DM ou de SAS. L’objectif secondaire était de préciser les caractéristiques cliniques, biologiques et évolutives de la maladie chez ces patients.Patients et méthode. Les critères d’inclusion étaient les suivants : patient afro-caribéen ; âge >15ans ; patient vivant en Guadeloupe ; réalisation d’un bilan d’extension à la recherche d’une néoplasie.Résultats. Vingt-deux patients ont été inclus (15 atteints de DM, 7 de SAS). Un seul cancer a été diagnostiqué, avec une durée moyenne de suivi de 6±4ans sur l’ensemble de la série (prévalence de 6,7 % ; IC 95 % [1,7 ; 31,9]). Parmi les 15 patients atteints de DM (sex-ratio H/F=1/4 ; âge moyen : 45±14ans), 6 (40 %) avaient une connectivite associée.Conclusion. Notre étude suggère une faible association entre DM et cancer chez les patients afro-caribéens. Ces résultats s’expliquent principalement par les caractéristiques de la maladie chez ces patients (sexe féminin, jeune âge, connectivite associée) et la faible prévalence, aux Antilles, des cancers classiquement associés aux DM.
ISSN: 0151-9638

inserm-01110999
http://www.hal.inserm.fr/inserm-01110999
http://www.hal.inserm.fr/inserm-01110999/document
http://www.hal.inserm.fr/inserm-01110999/file/2014%2C%20Tersiguel%20-%20Epid%C3%A9miologie%20de%20la%20dermatomyosite%20et%20du%20syndrome%20des%20anti-synth%C3%A9tases%20en%20population%20afro-carib%C3%A9enne.pdf
PUBMED : 25288059

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
Objective: To describe characteristics and outcomes of HIV-infected patients with Pneumocystis jirovecii pneumonia (PCP) over 2004–2011 in France, in particular in those previously enrolled (PE) in the French Hospital Database on HIV (FHDH). Methods: PE patients with an incident PCP were compared with patients with an inaugural PCP revealing HIV infection (reference). Adequate adherence to care was defined as a CD4 measurement at least every 6 months. Immune reconstitution (CD4$200/mm 3) and risk of death were studied using Kaplan-Meier estimates and multivariable Cox proportional hazards models. Results: In a context of a decreasing incidence of PCP, 1259 HIV-infected patients had a PCP diagnosis, and 593 (47%) were PE patients of whom 161 (27%) have had a prior history of AIDS-defining clinical illness (prior ADI). Median time since enrolment was 8 years for PE patients; 74% had received cART. Median proportion of time with adequate adherence to care was 85% (IQR, 66–96) for all FHDH enrollees, but only 45% (IQR, 1–81) for PE patients during the 2 years before PCP. Median CD4 cell count (38/mm 3) and HIV viral load (5.2 log10 copies/ml) at PCP diagnosis did not differ between PE patients and the reference group. Three year mortality rate of 25% was observed for PE prior ADI group, higher than in PE non-prior ADI group (8%) and the reference group (9%) (p,0.0001). In the PE prior ADI group, poor prognosis remained even after adjustment for virological control and immune reconstitution (HR, 2.4 [95%CI, 1.5–3.7]). Conclusion: Almost 50% of PCP diagnoses in HIV-infected patients occurred presently in patients already in care, mainly with a previous cART prescription but with waning adherence to care. Having repeated ADI is contributing to the risk of death beyond its impact on immune reconstitution and viral suppression: special efforts must be undertaken to maintain those patients in care.
ISSN: 1932-6203

Droits : http://creativecommons.org/licenses/by/
hal-01345090
http://hal.upmc.fr/hal-01345090
http://hal.upmc.fr/hal-01345090/document
http://hal.upmc.fr/hal-01345090/file/journal.pone.0094183.PDF
DOI : 10.1371/journal.pone.0094183

Éditeur(s) : HAL CCSD Elsevier Masson
Résumé : International audience
Invasive aspergillosis is a major cause of mortality in allogeneic bone marrow transplant recipients and patients treated for blood malignancies. The diagnostic tools, treatments and preventive strategies, essentially developed for neutropaenic patients, have not been assessed in populations whose immune systems are considered to be competent. Beside the standard picture of chronic Aspergillus infection, the incidence of invasive aspergillosis is increasing in non neutropaenic patients, such as those with chronic lung diseases or systemic disease treated with long-term immunosuppressive drugs and solid organ transplant recipients. This study reviews the specific features of invasive aspergillosis in non neutropaenic subjects (NNS) and discusses the value of the diagnostic tools and treatment in this population. A better understanding of the pathophysiology and the epidemiological characteristics of invasive aspergillosis would provide a means of adapting the staging and classification of the disease for NNS. Invasive aspergillosis is under diagnosed in NNS who may already be colonised when they receive immunosuppressive treatment; this can lead to an adverse outcome in patients who are considered to be a moderate risk population.
ISSN: 0761-8425

hal-01118185
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01118185
DOI : 10.1016/j.rmr.2010.01.004
PUBMED : 20965392

Éditeur(s) : HAL CCSD
Résumé : International audience
Idiopathic pulmonary fibrosis (IPF) is the most frequent chronic idiopathic interstitial pneumonia in adults. The management of rare diseases in France has been organised by a national plan for rare diseases, which endorsed a network of expert centres for rare diseases throughout France. This article is an overview of the executive summary of the French guidelines for the management of IPF, an initiative that emanated from the French National Reference Centre and the Network of Regional Competence Centres for Rare Lung Diseases. This review aims at providing pulmonologists with a document that: 1) combines the current available evidence; 2) reviews practical modalities of diagnosis and management of IPF; and 3) is adapted to everyday medical practice. The French practical guidelines result from the combined efforts of a coordination committee, a writing committee and a multidisciplinary review panel, following recommendations from the Haute Autorité de Santé. All recommendations included in this article received at least 90% agreement by the reviewing panel. Herein, we summarise the main conclusions and practical recommendations of the French guidelines.
Eur Respir Rev

hal-01063982
https://hal.archives-ouvertes.fr/hal-01063982
DOI : 10.1183/09059180.00001814
PUBMED : 24881074

Éditeur(s) : Wiley-blackwell Publishing, Inc
Résumé : Aims: A description of bacterial pathogens in shrimp ponds is necessary to understand their pathogenesis. Vibrio nigripulchritudo was shown to contain saprophytic and pathogenic strains among New Caledonian isolates. We established a method to map the development of V. nigripulchritudo in pond sediments at three different genetic levels: the species level, then at the pathogenic cluster level and finally at the plasmid level, present only in all highly pathogenic isolates. Methods and Results: PCR methods were applied to shrimp pond sediments both before and after a mortality outbreak. Using crude samples, the species V. nigripulchritudo is not detected at first (0/42 samples at day 56 post stocking) but appears frequently in the sediments after the mortality event (30/42 at day 107). The distribution of strains from the pathogenic cluster of V. nigripulchritudo also follows this pattern. In contrast, the pSFn1 virulence-associated plasmid was detected in one sample at day 56 and none at day 107. An enrichment method was developed to lower the detection limits of our assays. After enrichment, the species V. nigripulchritudo was detected in all samples at both dates. The number of samples positive for pSFn1 was 42/42 samples at day 56 and 29/42 at day 107. Conclusions: These results show that the sediments contain V. nigripulchritudo, notably pathogenic strains. Surprisingly, the virulence-associated plasmid pSFn1 found in all V. nigripulchritudo isolated from moribund shrimp appears less frequently in sediments, possibly being useless or even detrimental to its recipient bacteria in this environment. Significance and Impact of the Study: This study confirms the presence of pathogenic V. nigripulchritudo strains in shrimp pond sediment before a mortality outbreak complying with a previous hypothesis that sediments could be the infecting reservoir. After the outbreak, both total V. nigripulchritudo and pathogenic strains populations have largely increased, possibly contributing to the recurrent mortality observed in this shrimp vibriosis.
Journal Of Applied Microbiology (1364-5072) (Wiley-blackwell Publishing, Inc), 2010-06 , Vol. 108 , N. 6 , P. 2003-2011

Droits : 2010 The Society for Applied Microbiology - Wiley-Blackwell
http://archimer.ifremer.fr/doc/00004/11484/8177.pdf
DOI:10.1111/j.1365-2672.2009.04601.x
http://archimer.ifremer.fr/doc/00004/11484/

Résumé : Cette étude a pour missions essentielles de comprendre et d’expliquer comment le passage d’une langue à une autre voire le mélange des deux codes langagiers qui se côtoient au sein de la population de la Guadeloupe, département français d’outre-mer, le français et le créole, peuvent, dans le cadre des échanges médicaux éducatifs, influencer la compréhension des mécanismes de la maladie par le patient, son acceptation et sa gestion.La justification de cette étude tient du constat que la prévalence de cette maladie chronique en Guadeloupe, l’asthme bronchique, est relativement importante, que la prise en charge reste perfectible malgré les recommandations de bonnes pratiques édictées par les sociétés savantes, et que certains patients ont du mal à comprendre les termes utilisés en français par leur médecin lors de l’annonce du diagnostic, ainsi que par les éducateurs chargés de leur apporter les outils de bonne gestion de cette maladie, ce qui n’est pas sans incidents en termes de morbidité et de mortalité.L’auteur décompose sa recherche autour de cinq grands thèmes :- La description du territoire d’étude, sur le plan géographico-climatique, historico-économique, sanitaire et social, la naissance d’une ère culturelle nouvelle générant une langue partagée par plus de 95% de la population et transmise au sein des familles et dans la communauté.- La présentation de l’éducation thérapeutique, démarche considérée par la communauté scientifique comme essentielle pour améliorer la prise en charge du patient et l’autogestion de la maladie, les plans gouvernementaux successifs traitant de cette matière.- L’état des connaissances sur l’asthme bronchique en France, dans le monde et en Guadeloupe plus particulièrement.- L’impact de la langue créole dans le processus de compréhension de la maladie à travers la relation soignant-soigné, et ses conséquences chez les natifs bilingues en termes d’acquisitions des outils d’autogestion en comparaison à l’utilisation du français.- La formulation de propositions de contextualisation didactique, tant en termes de formation des professionnels de santé par la préconisation de l’utilisation de la langue créole, par l’adaptation des outils psychopédagogiques au contexte local, que d’encouragement du patient à utiliser sa langue maternelle dans l’expression de ses ressentis.La recherche montre que la langue créole, utilisée autant au cours de la consultation par le médecin traitant et par le malade que pendant les séances d’éducation thérapeutique par les éducateurs et le public, influence les indicateurs de gestion de cette maladie.En conclusion, l’auteur défend l’hypothèse selon laquelle l’utilisation de la langue créole dans les échanges médicaux éducatifs chez les adolescents asthmatiques bilingues français-créole favoriserait la compréhension des mécanismes de la maladie asthmatique, la prise de conscience de sa gravité et la nécessité de se soigner pour éviter les complications, corollaire d’une bonne qualité de vie.
In Guadeloupe, a French Overseas Territory, the population uses French and Creole linguistic codes. The main goals of this thesis are to understand and to explain how a better use of French and Creole, within the framework of educational medical exchanges, can improve the understanding of the mechanisms of the disease by the patient, its acceptance and its management.The bronchial asthma is a chronic disease, which affects an important part of the Guadeloupian population. In spite of the recommendations promulgated by the medical scholars, the care of the patients can be improved in Guadeloupe. Certain patients have difficulty understanding the terms used in French by their doctor during the announcement of the diagnosis, as well as by the educators in charge of bringing them the tools of good management of this disease what is not without incidents in terms of morbidity and mortality.The author elaborates his research around five main themes:- The thorough description of the space studied in this thesis; the geography of the land, the history of the population, the impact of the economic; the presentation of the social and health care infrastructures; and furthermore the birth of a new cultural era generating a language shared by more than 95 % of the population and passed on within families and communities.- The presentation of the therapeutic education, the approach considered by the scientific community as essential to improve the management of the patient and the self-management of the disease, the successive governmental plans dealing with this subject.- The state of the knowledge on the bronchial asthma in France, in the world and in Guadeloupe more particularly.- The impact of the Creole language in the process of understanding of the disease within the healthcare relationships and its consequences at the bilingual natives in terms of acquisitions of the tools of self-management in comparison to the use of French.- The formulation of proposals of didactic contextualization regarding the training of the healthcare professionals; the recommendation to the healthcare workers to use the Creole language; the adaptation of the psycho-pedagogical tools to the local context; the encouragement to the patients to use their native language in the expression of their feelings.- Researches show that the Creole language used during the consultation by the regular doctor, but also during the educational sessions therapeutics by the educators influence the indicators of management of this disease. In conclusion, the author defends the hypothesis according to which, the use of the Creole language in the educational medical exchanges at the bilingual asthmatic teenagers French-Creole would favor the understanding of the mechanisms of the asthmatic disease, the awareness of its gravity and the necessity of looking after oneself to avoid the complications, corollary of a good quality of life.

http://www.theses.fr/2015AGUY0827/document

Éditeur(s) : HAL CCSD
Résumé : International audience
Background Mycobacterium ulcerans infection is the third most common mycobacterial disease in the world after tuberculosis and leprosy. To date, transmission pathways from its environmental reservoir to humans are still unknown. In South America, French Guiana has the highest reported number of M ulcerans infections across the continent. This empirical study aimed to characterise the epidemiology of M ulcerans infection in French Guiana between 1969 and 2013.MethodsData were collected prospectively mainly by two dermatologists at Cayenne Hospital’s dermatologydepartment between Jan 1, 1969, and Dec 31, 2013, for age, date of diagnosis, sex, residence, location of the lesion,type of lesion, associated symptoms, and diagnostic method (smear, culture, PCR, or histology) for all confirmed andsuspected cases of M ulcerans. We obtained population data from censuses. We calculated mean M ulcerans infectionincidences, presented as the number of cases per 100 000 person-years.Findings 245 patients with M ulcerans infections were reported at Cayenne Hospital’s dermatology department duringthe study period. M ulcerans infection incidence decreased over time, from 6·07 infections per 100 000 person-years(95% CI 4·46–7·67) in 1969–83 to 4·77 infections per 100 000 person-years (3·75–5·79) in 1984–98 and to3·49 infections per 100 000 person-years (2·83–4·16) in 1999–2013. The proportion of children with infections alsodeclined with time, from 42 (76%) of 55 patients in 1969–83 to 26 (31%) of 84 in 1984–98 and to 22 (21%) of 106 in1999–2013. Most cases occurred in coastal areas surrounded by marshy savannah (incidence of 21·08 per100 000 person-years in Sinnamary and 21·18 per 100 000 person-years in Mana). Lesions mainly affected limbs (lowerlimbs 161 [66%] patients; upper limbs 60 [24%] patients). We diagnosed no bone infections.Interpretation The decrease of M ulcerans infection incidence and the proportion of children with infections over a45 year period in this ultra-peripheral French territory might have been mostly driven by improving living conditions,prophylactic recommendations, and access to health care.
The Lancet Planetary Health

inserm-01545603
http://www.hal.inserm.fr/inserm-01545603
http://www.hal.inserm.fr/inserm-01545603/document
http://www.hal.inserm.fr/inserm-01545603/file/2017%2C%20Douine%20-%20Mycobacterium%20ulcerans%20infection%20%28Buruli%20ulcer%29.pdf
http://www.hal.inserm.fr/inserm-01545603/file/Comments.pdf

Éditeur(s) : HAL CCSD
Résumé : International audience
Febrile illness is a common cause of attendance at emergency departments. The purpose of this study was to describe infectious aetiologies of fever in a tropical setting. We prospectively included 1443 febrile patients, all French Guiana residents, who presented at Cayenne Hospital emergency department. This report will propose an overview of aetiologies of febrile illness in French Guiana, and tropical diseases such as malaria and arbovirus infections are discussed. Almost 30% of fevers remained unexplained. Further prospective multicentre studies are warranted to improve the diagnosis of overlooked pathogens in French Guiana. Such studies would lead to conclusions of specific interest in the travel medicine field.
Transactions of the Royal Society of Tropical Medicine and Hygiene / Transactions of the Royal Society for Tropical Medicine and Hygiene

pasteur-00584097
https://hal-riip.archives-ouvertes.fr/pasteur-00584097
DOI : 10.1016/j.trstmh.2008.06.011
PUBMED : 18640694

Éditeur(s) : HAL CCSD
Résumé : International audience
Human polycystic echinococcosis is a parasitic infection caused by the larval stage of Echinococcus vogeli which occurs in rural areas of Central and South America. Abdominal echinococcosis caused by E. vogeli is reported for the first time in a child, a 6-year-old boy in French Guiana. The diagnosis was made by histological and molecular techniques. In tropical regions, this neglected disease must be considered even in children.
ISSN: 2046-9047

hal-01484299
https://hal.univ-lorraine.fr/hal-01484299
DOI : 10.1179/2046905515Y.0000000054

Éditeur(s) : HAL CCSD Medknow Publications
Résumé : International audience
Multiple regions of the genome have been associated with the risk of prostate cancer in Caucasians, particularly including several polymorphisms located at 8q24. Region 2 of 8q24 has been repeatedly found to be associated with the risk of prostate cancer among men of African descent, although one study performed in the Caribbean island of Jamaica did not report this finding. In this study, the single nucleotide polymorphism rs16901979, located in region 2 of 8q24, was genotyped in 498 cases of histologically confirmed prostate cancer and 541 controls from the French Caribbean islands of Guadeloupe, where the population is largely of African descent. The AA genotype and the A allele at rs16901979 were associated with elevated risks of prostate cancer (odds ratios [ORs] = 1.84, 95% confidence interval [95% CI] = 1.26-2.69, P = 0.002 and OR = 1.36, 95% CI = 1.13-1.64, P = 0.001, respectively). Following stratification of the patients by disease aggressiveness, as defined by the Gleason score, the pooled genotypes AC + AA were associated with a higher risk of a Gleason score ≥7 at diagnosis (OR = 1.79, 95% CI = 1.17-2.73, P = 0.007). In summary, the A allele at rs16901979 was associated with the risk of prostate cancer in the Caribbean population of Guadeloupe, confirming its involvement in populations of African descent. Moreover, our study provides the first evidence of an association between this variant and the risk of aggressive prostate cancer.
ISSN: 1008-682X

Droits : http://creativecommons.org/licenses/by-nc-sa/
hal-01118552
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01118552
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01118552/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01118552/file/AsianJAndrol171117-1705456_044414.pdf
DOI : 10.4103/1008-682X.135127

Éditeur(s) : HAL CCSD
Résumé : National audience
Nocardiosis is an infectious disease with wide range of clinical features, which can eventually lead to death. The agent responsible belongs to the genus Nocardia that includes about fifty different species. Nocardiosis occurs mainly in immunocompromised hosts. We report here three cases of disseminated nocardiosis misdiagnosed initially as cerebral metastatic lung cancer. These patients, including two immunocompetent hosts, presented with both pulmonary and cerebral lesions. In all three patients, the diagnosis was based on magnetic resonance imaging with diffusion sequence, apparent diffusion coefficient reconstruction and neurosurgical cerebral biopsies. Treatment with an appropriate antibiotic regimen was prolonged for several months. Progress was favorable with full resolution of the neurological symptoms and the radiological abnormalities. These three cases emphasize the diagnostic challenge of nocardiosis, especially in disseminated disease.
Revue Des Maladies Respiratoires

hal-01659440
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01659440
DOI : 10.1016/j.rmr.2017.08.002
PUBMED : 28918971

Éditeur(s) : HAL CCSD Taylor & Francis
Résumé : International audience
Humans may be exposed via their environment to multiple chemicals as a consequence of human activities and use of synthetic products. Little knowledge is routinely generated on the hazards of these chemical mixtures. The metabolomic approach is widely used to identify metabolic pathways modified by diseases, drugs, or exposures to toxicants. This review, based on the state of the art of the current applications of metabolomics in environmental health, attempts to determine whether metabolomics might constitute an original approach to the study of associations between multiple, low-dose environmental exposures in humans. Studying the biochemical consequences of complex environmental exposures is a challenge demanding the development of careful experimental and epidemiological designs, in order to take into account possible confounders associated with the high level of interindividual variability induced by different lifestyles. The choices of populations studied, sampling and storage procedures, statistical tools used, and system biology need to be considered. Suggestions for improved experimental and epidemiological designs are described. Evidence indicates that metabolomics may be a powerful tool in environmental health in the identification of both complex exposure biomarkers directly in human populations and modified metabolic pathways, in an attempt to improve understanding the underlying environmental causes of diseases. Nevertheless, the validity of biomarkers and relevancy of animal-to-human extrapolation remain key challenges that need to be properly explored.
ISSN: 1093-7404

hal-00976116
https://hal-univ-rennes1.archives-ouvertes.fr/hal-00976116
https://hal-univ-rennes1.archives-ouvertes.fr/hal-00976116/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-00976116/file/Potential_input_from_metabolomics_accepted.pdf
DOI : 10.1080/10937404.2013.860318

Éditeur(s) : HAL CCSD Wiley-Blackwell
Résumé : International audience
Seven patients from a group of 16 travelers were diagnosed at our institution with one or more sand fleas on their toes, 1 day to 3 weeks after returning from Madagascar. A questionnaire was sent to the whole group to collect clinical and epidemiological information, which showed that 9 of 13 (69%) had received pre-travel medical advice, but none were aware of sand flea; thus prevention measures were rarely applied. Five of seven (71%) patients wore open sandals throughout the trip. Overall, 10 sand fleas were extracted
ISSN: 1195-1982

hal-01162380
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01162380
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01162380/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01162380/file/Tungiasis%20outbreak%20in%20Madagascar-1.pdf
DOI : 10.1111/jtm.12217

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
BACKGROUND: HIV cohort collaborations, which pool data from diverse patient cohorts, have provided key insights into outcomes of antiretroviral therapy (ART). However, the extent of, and reasons for, between-cohort heterogeneity in rates of AIDS and mortality are unclear. METHODS: We obtained data on adult HIV-positive patients who started ART from 1998 without a previous AIDS diagnosis from 17 cohorts in North America and Europe. Patients were followed up from 1 month to 2 years after starting ART. We examined between-cohort heterogeneity in crude and adjusted (age, sex, HIV transmission risk, year, CD4 count and HIV-1 RNA at start of ART) rates of AIDS and mortality using random-effects meta-analysis and meta-regression. RESULTS: During 61 520 person-years, 754/38 706 (1.9%) patients died and 1890 (4.9%) progressed to AIDS. Between-cohort variance in mortality rates was reduced from 0.84 to 0.24 (0.73 to 0.28 for AIDS rates) after adjustment for patient characteristics. Adjusted mortality rates were inversely associated with cohorts' estimated completeness of death ascertainment [excellent: 96-100%, good: 90-95%, average: 75-89%; mortality rate ratio 0.66 (95% confidence interval 0.46-0.94) per category]. Mortality rate ratios comparing Europe with North America were 0.42 (0.31-0.57) before and 0.47 (0.30-0.73) after adjusting for completeness of ascertainment. CONCLUSIONS: Heterogeneity between settings in outcomes of HIV treatment has implications for collaborative analyses, policy and clinical care. Estimated mortality rates may require adjustment for completeness of ascertainment. Higher mortality rate in North American, compared with European, cohorts was not fully explained by completeness of ascertainment and may be because of the inclusion of more socially marginalized patients with higher mortality risk.
ISSN: 0300-5771

hal-00875138
https://hal.archives-ouvertes.fr/hal-00875138
DOI : 10.1093/ije/dys164
PUBMED : 23148105

Éditeur(s) : HAL CCSD
Résumé : National audience
INTRODUCTION: Pulmonary arterial hypertension (PAH) is a severe complication of systemic sclerosis and detecting PAH efficiently remains challenging. The DETECT study has offered in 2013 a composite screening tool for PAH. The objective of our study was to compare the indication of right heart catheterisation (RHC) as suggested by the DETECT algorithm with the decisions of a multidisciplinary team. METHODS: This prospective monocentric non-interventional study consecutively included systemic sclerosis patients when data required to apply DETECT algorithm were available. We evaluate the number of RHC as requested by this algorithm and confronted it with the indications of RHC suggested by a multidisciplinary group blinded for the result of DETECT algorithm. RESULTS: In total, 117 systemic sclerosis patients were included. When DETECT algorithm was applied to all patients, RHC was suggested by this algorithm for 70 patients, whereas only 15 indications were required by the multidisciplinary group; among those patients only 7 had PAH. When DETECT algorithm was applied only to the 42 patients with DLCO<60% and disease duration of more than 3 years, RHC was suggested for 31 patients whereas only 13 were indicated by the multidisciplinary group; among those patients only 7 had PAH. CONCLUSION: The DETECT algorithm is able to efficiently detect all PAH patients finally diagnosed by our multidisciplinary team. However, it increases by 3 the number of RHC that should be performed.
La Revue de Médecine Interne

hal-01579606
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01579606
DOI : 10.1016/j.revmed.2017.04.005
PUBMED : 28545856

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
OBJECTIVES: Invasive fungal disease (IFD) remains a major concern in patients with haematological conditions. We describe diagnoses, therapeutic management and outcomes in unselected consecutive patients from haematological facilities treated for suspected or documented IFD. METHODS: In this observational prospective study, children/adults with haematological conditions or haematopoietic stem cell transplantation (HSCT) were recruited upon start of non-prophylactic systemic antifungal treatment in 37 French haematological facilities (December 2007 to December 2008). IFD episodes were classified according to the 2008 EORTC/MSG criteria. RESULTS: The cohort included 419 patients (298 adults and 121 children): 88% haematological malignancies, 28% HSCT recipients and 68% neutropenic. Patients had 423 IFD episodes: 21% mycologically documented (59% probable/proven aspergillosis, 32% proven candidiasis and 9% probable/proven other IFD) and 20% classified as possible IFD. The remaining cases were assigned to two groups: febrile neutropenia (34%) and unclassified (25%), 9% of which were classified as possible/probable/proven IFD by day 7. Treatment was thus initiated early in 59% of patients; liposomal amphotericin B and caspofungin were the most common single-agent therapies. The 12 week mortality was 18% for probable/proven aspergillosis, 15% for proven candidiasis, 10% for probable/proven other IFD, 9% for possible IFD, 3% for febrile neutropenia and 12% for unclassified episodes (log rank P = 0.016); it was dependent on age, complete remission of underlying haematological disease and mechanical ventilation. CONCLUSIONS: In this comprehensive sample of haematological patients receiving antifungal treatment, we observe a widespread resort to early therapy and a low mortality rate, including in patients with probable or proven IFD.
ISSN: 0305-7453

hal-00874741
https://hal.archives-ouvertes.fr/hal-00874741
DOI : 10.1093/jac/dks266
PUBMED : 22850692

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
PURPOSE: Multiple myeloma, a hematological malignancy generally affecting elderly people, was diagnosed at the beginning of the pregnancy of a 33-year-old woman. We carried out a literature review in order to evaluate the consequences of this cancer on pregnancy and of pregnancy on multiple myeloma, as to determine the specific follow-up required. METHODS: A systematic search for articles of interest published between 1949 and 16 November 2010 was performed in MEDLINE, SCOPUS and EMBASE, using the words "multiple myeloma" and "pregnancy". We identified 398 publications of potential interest, 20 of which were selected and included in the analysis. RESULTS: The selected articles included 26 cases. No specific risk factors were identified in pregnant women. The most common presentations were bone pain and/or anemia, as in the general population. Pregnancy seemed to have no effect on multiple myeloma progression. Most pregnancies went to term, with only two medical terminations and six cesareans performed before term, due to the severity of the cancer. No effect of the cancer or its treatment by chemotherapy during pregnancy was found in the children. CONCLUSION: Pregnancy does not seem to be contraindicated in women with multiple myeloma. Nevertheless, the management of pregnant patients with multiple myeloma is a diagnostic, therapeutic and social challenge, requiring a multidisciplinary approach and regular follow-up. Decisions should be taken based on the severity of the disease, its prognosis and maternal choice.
ISSN: 0932-0067

hal-00682571
https://hal.archives-ouvertes.fr/hal-00682571
DOI : 10.1007/s00404-011-1985-8
PUBMED : 21786002

Éditeur(s) : HAL CCSD SAGE Publications (UK and US)
Résumé : International audience
In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop codon (p.N120fz*2). We characterized the enamel structure of the latter case using scanning electron microscopy analysis and microanalysis (Energy-dispersive X-ray Spectroscopy, EDX) and confirmed the hypomaturation-type amelogenesis imperfecta as identified in the clinical diagnosis. The mineralized content was slightly decreased, with magnesium substituting for calcium in the crystal structure. The anomalies affected enamel with minimal inter-rod enamel present and apatite crystals perpendicular to the enamel prisms, suggesting a possible new role for MMP20 in enamel formation.
ISSN: 0022-0345

hal-01545484
https://hal.archives-ouvertes.fr/hal-01545484
DOI : 10.1177/0022034513488393