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Resume Introduction Le purpura thrombopenique immunologique (PTI) est a l’origine d’une alteration majeure de la qualite de vie. L’education therapeutique du patient (ETP) est une modalite d’accompagnement des patients qui pourrait limiter son retentissement : elle vise a faire emerger des competences d’auto-soin et psychosociales pour etre plus autonome face a sa maladie et mieux vivre avec. L’objectif de cette etude etait d’evaluer les attentes respectives des soignants et des patients vis-a-vis d’un programme d’ETP dans le PTI. Methode Etude observationnelle qualitative et quantitative a partir d’un questionnaire diffuse numeriquement et anonymement aupres de patients atteints de PTI et de soignants. Le questionnaire demandait quels themes aborder au cours d’un programme d’ETP specifique au PTI. Un codage en double insu des reponses a ete effectue par deux medecins, puis confronte jusqu’a l’obtention d’un consensus. Resultats Trente-huit patients atteints de PTI ont ete inclus : 68 % avaient moins de 50 ans et 84 % etaient au stade de PTI chronique. Vingt-cinq soignants ont ete inclus. Les soignants evoquaient plus d’idees se rapportant au domaine cognitif que les patients, centrees en premier lieu sur des thematiques securitaires. Les domaines psychoaffectifs et motivationnels tendaient a etre plus representes dans les reponses des patients. Seulement 53 % des themes etaient evoques a la fois par les patients et les soignants. Conclusion Les discordances observees soulignent les differences entre les attentes respectives des patients et des soignants vis-a-vis d’un programme d’ETP dans le PTI, et donc l’interet d’une co-construction patients-soignants d’un tel type de programme.

Introduction La necrose hemorragique des surrenales est la manifestation endocrinologique la plus frequente au cours du syndrome des antiphospholipides (SAPL). Il s’agit d’une complication classique mais rare puisqu’elle est retrouvee chez 0,4 % des patients ayant un SAPL. Il s’agit d’une thrombose veineuse des veines surrenaliennes dans un contexte de reseau vasculaire propice a l’ischemie hemorragique puisqu’il existe une veine de drainage unique, contrastant avec un reseau arteriel riche. Le traitement de reference reste les anti-vitamines K (AVK) mais le developpement des nouveaux anticoagulants oraux (NACO) dans d’autres pathologies, interroge sur leur place dans la prise en charge des patients ayant un SAPL. Nous rapportons un cas de necrose hemorragique bilaterale des surrenales chez un patient traite depuis 1 mois et demi par APIXABAN pour une thrombose veineuse profonde avec embolie pulmonaire, revelant un syndrome des antiphospholipides. Observation Un patient de 47 ans, sans antecedent notable, est diagnostique d’une phlebite de la jambe gauche devant une douleur persistante du mollet. Une anticoagulation efficace par APIXABAN 5 mg matin et soir est debutee. Devant la presence d’une dyspnee persistante rapportee par le patient, un angioscanner thoracique est realise a 1 mois, avec diagnostic d’embolie pulmonaire. A un mois et demi du diagnostic initial, il est hospitalise pour douleurs abdominales brutales intenses avec mise en evidence d’hematomes bilateraux des surrenales au scanner. En reprenant l’interrogatoire, on retrouve une observance stricte du traitement par APIXABAN. Cliniquement, l’abdomen est douloureux a la palpation mais depressible et on retrouve un livedo reticularis au niveau du dos. Le bilan biologique sous APIXABAN retrouve un TP a 42 %, un TCA allonge a 1,42 et l’absence de cytopenie. Le bilan immunologique retrouve une triple positivite pour les anticorps anti-phospholipides a des taux eleves : IgG anti-cardiolipine avec titre > 160GPL-U/mL (resultat negatif si 160 U/mL (titre negatif si Discussion La necrose hemorragique bilaterale des surrenales est une urgence diagnostique et therapeutique. Elle doit faire rechercher un SAPL car il s’agit d’une manifestation inaugurale dans un tiers des cas. Avec l’elargissement des indications des NACO se pose la question de leur utilisation dans le SAPL. Dans une cohorte prospective de 56 patients avec un SAPL traite par NACO, 6 recurrences d’evenements thrombotiques etaient rapportes : 4 chez des patients triple positifs et 2 en contexte de non adherence au traitement, pendant un suivi de 22 mois en moyenne (2–43 mois) [1] . L’etude controlee randomisee RASP ne retrouvait aucun evenement thrombotique chez les patients avec un SAPL traite par RIVAROXABAN (suivi 42 jours) [2] . Cependant en 2018, un essai controle randomise comparant l’efficacite du RIVAROXABAN par rapport a la WARFARINE chez des patients avec un SAPL a haut risque thrombotique, retrouvait des recidives de thromboses uniquement dans le groupe RIVAROXABAN (12 % versus 0 %) ayant justifie un arret precoce de l’essai apres l’inclusion de 120 patients [3] . Notre cas rapporte une inefficacite de l’APIXABAN en cas de SAPL a haut risque de thrombose. Un autre cas d’hemorragie bilaterale des surrenales associee a des anticorps anti-phospholipides sous RIVAROXABAN est rapporte dans la litterature, nous n’avons pas retrouve de cas rapporte sous APIXABAN. Conclusion Ce cas clinique illustre les limites d’un traitement par NACO pour la prevention des recidives thrombotiques chez les patients SAPL triple positifs. Il s’agit a ce jour, a notre connaissance, du seul cas rapporte de necrose bilaterale des surrenales sous APIXABAN en contexte de SAPL. Un essai randomise est en cours pour evaluer l’efficacite de l’APIXABAN dans le SAPL. Nous verrons si les resultats sont identiques aux resultats retrouves pour le RIVAROXABAN, comme peut le suggerer notre cas clinique.

Persistence of various symptoms in patients who have recovered from coronavirus disease 2019 (COVID-19) was recently defined as ‘long COVID’ or ‘post-COVID syndrome’ (PCS). This article reports a case of a 58-year-old woman who, although recovering from COVID-19, had novel and persistent symptoms including neurological complications that could not be explained by any cause other than PCS. In addition to a low inflammatory response, persistence of immunoglobulin G anticardiolipin autoantibody positivity and eosinopenia were found 1 year after acute COVID-19 infection, both of which have been defined previously as independent factors associated with the severity of COVID-19. The pathophysiological mechanism of PCS is unknown, but the possibility of persistence of the virus, especially in the nervous system, could be suggested with a post-infectious inflammatory or autoimmune reaction.

Resume Introduction La maladie de Gaucher de type 1 est une maladie de surcharge d’origine genetique responsable de thrombopenie. Or les recommandations actuelles, devant une thrombopenie, ne proposent de prelevement medullaire qu’en cas d’argument pour une pathologie oncohematologique. Cette strategie econome d’examens complementaires peut rendre difficile le diagnostic de certaines maladies rares. Observation Une femme de 31 ans suivie pour une thrombopenie immunologique presentait secondairement une splenomegalie. Le myelogramme revelait des cellules de Gaucher qui amenaient a diagnostiquer une maladie de Gaucher de type 1. Retrospectivement, la presence initiale d’elements biologiques evocateurs (hyperferritinemie, hypergammaglobulinemie) aurait pu orienter vers le diagnostic. Conclusion La maladie de Gaucher de type 1 peut se resumer a une thrombopenie. Il faut savoir la rechercher si une hypergammaglobulinemie ou une hyperferritinemie accompagne la thrombopenie. Le diagnostic de thrombopenie immunologique sans prelevement medullaire impose d’etre parfaitement rigoureux au bilan initial, pour ne pas meconnaitre des diagnostics differentiels rares.

Lake Untersee is one of the largest perennially ice-covered lakes in Dronning Maud Land. We investigated the energy and water mass balance of Lake Untersee to understand its state of equilibrium. The thickness of the ice cover is strongly correlated with sublimation rates; variations in sublimation rates across the ice cover are largely determined by wind-driven turbulent heat fluxes and the number of snow-covered days. Lake extent and water level have remained stable for the past 20 years, indicating that the water mass balance is in equilibrium. The lake is damned by the Anuchin Glacier and mass balance calculation suggest that subaqueous melting of terminus ice contributes 40–45% of the annual water budget; since there is no evidence of streams flowing into the lake, the lake must be connected to a groundwater system that contributes 55–60% in order to maintain the lake budget in balance. The groundwater likely flows at a rate of ~8.8 × 10−2m3s−1, a reasonable estimate given the range of subglacial water flux in the region. The fate of its well-sealed ice cover is likely tied to changes in wind regime, whereas changes in water budget are more closely linked to the response of surrounding glaciers to climate change.

Perennially ice-covered lakes that host benthic microbial ecosystems are present in many regions of Antarctica. Lake Untersee is an ultra-oligotrophic lake that is substantially different from any other lakes on the continent as it does not develop a seasonal moat and therefore shares similarities to sub-glacial lakes where they are sealed to the atmosphere. Here, we determine the source of major solutes and carbon to Lake Untersee, evaluate the carbon cycling and assess the metabolic functioning of microbial mats using an isotope geochemistry approach. The findings suggest that the glacial meltwater recharging the closed-basin and well-sealed Lake Untersee largely determines the major solute chemistry of the oxic water column with plagioclase and alumino-silicate weathering contributing 2+–Na+ solutes to the lake. The TIC concentration in the lake is very low and is sourced from melting of glacial ice and direct release of occluded CO2 gases into the water column. The comparison of δ13CTIC of the oxic lake waters with the δ13C in the top microbial mat layer show no fractionation due to non-discriminating photosynthetic fixation of HCO3– in the high pH and carbon-starved water. The 14C results indicate that phototrophs are also fixing respired CO2 from heterotrophic metabolism of the underlying microbial mats layers. The findings provide insights into the development of collaboration in carbon partitioning within the microbial mats to support their growth in a carbon-starved ecosystem.

Acute severe hepatitis is a rare complication of adult-onset Still's disease (AOSD). This condition is poorly characterized. We performed a review of the medical literature to describe clinical, biological, pathological, and treatment characteristics from AOSD patients with acute severe hepatitis. Their characteristics were compared with AOSD patients without severe hepatitis. Twenty-one cases were collected including a new case reported here. Patients with severe hepatitis were mostly young adults with a median age of 28 years (range: 20 to 55 years). Overall, patients with severe hepatitis had less arthritis, macular rash, sore throat, lymphadenopathy, or splenomegaly than patients without severe hepatitis. Cytopenia was more frequent in case of severe hepatitis. Most patients were treated with steroids, and the use of biotherapies has increased over the last decade. Despite treatment, 49% of patients required liver transplantation and 24% died. Key Points • Acute severe hepatitis in adult-onset Still's disease (AOSD) is associated with liver transplantation and/or death in, respectively, 43% and 24% of cases. • Severe hepatitis is the inaugural manifestation of AOSD in half of cases. Diagnosis is difficult when extra-hepatic clinical manifestations are lacking. • The mechanism of hepatic necrosis in AOSD with severe hepatitis is unknown. Liver biopsy is not specific and should not delay treatment initiation.

Erythroblastic synartesis is a rare cause of acquired dyserythropoiesis. Only 9 cases have been previously reported. We hereby report 3 cases of patients diagnosed with erythroblastic synartesis associated with monoclonal immunoglobulin and an overt malignant lymphoid disorder. A different B-cell clone may produce the monoclonal immunoglobulin, forming a biclonal disorder. In light of these data and literature review, treatment targeting the paraprotein seems to be efficient to control synartesis and correct anemia. In the case of monoclonal gammapathy associated with chronic lymphocytic leukemia, therapeutics should be adapted to control both chronic lymphocytic leukemia and monitored monoclonal immunoglobulin titer.

Little is known about the abundance and source of soil organic carbon and biogeochemical cycling in permafrost soils from the ultraxerous environment of the Dry Valleys of Antarctica. Here, we investigate the distribution, source and cycling of organic carbon, total nitrogen and carbonates in the icy permafrost soils of University Valley, Quartermain Mountains. Results indicate that organic carbon content is lowest in icy soils from the perennially cryotic zone (

Introduction La synartese erythroblastique est une forme d’anemie aregenerative meconnue. Elle a ete decrite pour la 1re fois en 1973 par Breton-Gorius et al. [1] . Des jonctions inter-digitees anormalement etroites se forment entre les erythroblastes dans la mœlle osseuse du patient conduisant a une erythropoiese inefficace. Depuis, seulement 12 cas ont ete rapportes. Cette maladie semble liee a des gammapathies monoclonales. Il est necessaire de savoir la reconnaitre pour ne pas meconnaitre une hemopathie sous-jacente, et pour prendre en compte les specificites du traitement. Observation Nous rapportons ici le cas de M. E., 66 ans, hospitalise pour anemie. Le patient rapportait une asthenie depuis 3 mois, un amaigrissement de 5 kilos, ainsi qu’un episode d’ictere cutaneomuqueux. L’examen clinique retrouvait une splenomegalie a 4 travers de doigts. Les explorations biologiques montraient : – anemie a 63 g/L microcytaire (VGM a 78,6 fL) aregenerative (reticlulocytes : 8 G/L) ; – profil d’hemolyse : haptoglobine indosable et LDH a 1,5 N, mais bilirubine normale ; – test de Coombs erythrocytaire direct positif en IgG ; – myelogramme : dyserythropoiese, synartese erythroblastique, infiltrat lymphocytaire a 16 % ; – phenotypage lymphocytaire sur sang peripherique : contingent lymphocytaire B monoclonal (8 % des lymphocytes), a chaine legere kappa, score de Matutes 1/5 ; – electrophorese des proteines seriques : pic IgG Lambda monoclonal a 0,2 g/L ; – BOM : fibrose reticulinique de stade II, absence d’hemopathie maligne. Devant les signes generaux et la splenomegalie, un TEP TDM au 18FDG a ete realise montrant une absence d’hypermetabolisme splenique ou ganglionnaire (multiples formations ganglionnaires sous-diaphragmatiques). Devant le tableau d’anemie hemolytique (aregenerative) avec test de Coombs positif en IgG, il etait debute une corticotherapie a 1 mg/kg/j puis un traitement par 2 cures d’1 g de rituximab a 2 semaines d’intervalle. Le diagnostic finalement retenu etait une anemie par synartese erythroblastique secondaire a une gammapathie monoclonale IgG lambda dans un contexte de lymphoproliferation B de bas grade. L’anemie s’amendait sur 3 semaines permettant un sevrage de la corticotherapie en 6 semaines. Dans le meme temps, le patient rapportait une remission des sueurs nocturnes et un retour au poids de base. La remission complete de l’anemie etait maintenue a trois mois de la perfusion de rituximab, deux mois apres l’arret de la corticotherapie. Conclusion La synartese erythroblastique est une maladie peu connue dont la physiopathologie n’est pas encore parfaitement comprise. En 1999, les etudes de Cramer et al. [2] suggeraient que la formation de ces jonctions anormales serait due a la presence, dans le serum des patients, d’IgG dirigees contre un antigene present a la surface de l’erythroblaste. Il semble que le recepteur CD36 serait concentre au niveau des jonctions entre les erythroblastes et pourrait etre la cible de ces IgG. Une association avec une lymphoproliferation de bas grade semble relativement frequente. En effet, sur les 12 cas decrits, on retrouve 3 cas de LLC, 2 cas de lymphome lymphocytaire a petits lymphocytes et un cas de lymphome B de bas grade. Savoir faire le diagnostic de synartese erythroblastique est donc important car le traitement semble passer par le ciblage de la gammapathie monoclonale [3] .

Introduction La drepanocytose est la maladie genetique la plus frequente au niveau mondial. Sa prevalence est en augmentation en France avec pres de 20 000 patients en 2019, en lien avec le vieillissement de cette population et les nouveaux arrivants etrangers. Cette etude fait l’etat des lieux de la population suivie dans un centre de reference de la drepanocytose adulte. Patients et methodes Il s’agit d’une etude epidemiologique observationnelle descriptive retrospective monocentrique concernant les annees 2017 et 2018. Elle presente les caracteristiques epidemiologiques, les antecedents, les complications, les traitements et le suivi de ces patients. Elle compare les sous-groupes de syndromes drepanocytaires majeurs et etudie la gravite des patients en fonction de l’âge, de la prise en charge pediatrique (France ou etranger) et des parametres biologiques. Resultats 197 patients ont ete analyses : 110 femmes (55,8 %) et 87 hommes (44,2 %). L’âge moyen est de 34,7 ans, avec des âges extremes allant de 16 a 61 ans. 112 (58 %) sont HbSS, 33 (17 %) sont HbSC, 25 (13 %) sont HbSB° et 22 (12 %) sont HbSB+. 24 (28,6 %) presentent une ou deux deletions alpha-thalassemique associees. 63 patients (46,7 %) sont originaires d’Afrique sub-saharienne et 42 (31,1 %) d’Afrique du Nord. 34,7 % des patients ont ete pris en charge en France des leur enfance. Concernant les complications : 84 patients (58,7 %) ont une hyperfiltration glomerulaire, 60 (35,9 %) ont une retinopathie, 23 hommes (29,9 %) presentent un antecedent de priapisme, 46 (29,2 %) ont une hemochromatose presente ou passee, 34 (24,6 %) ont une cardiopathie, 21 patients (13,6 %) ont une insuffisance renale chronique, 42 (27,2 %) ont une osteonecrose femorale, 15 (9,54 %) ont un antecedent d’AVC, 13 (8,2 %) ont une vasculopathie cerebrale, 8 (6 %) ont une HTAP, 10 (5,7 %) ont un antecedent d’ulcere. 91 patients (54,8 %) ont presente un syndrome thoracique aigu. 50 patients presentent une allo- immunisation (RAI positive) et 7 (4,4 %) ont un antecedent d’hemolyse post-transfusionnelle retardee. Au niveau chirurgical, 79 patients (43,9 %) sont cholecystectomises et 31 (17,3 %) sont splenectomises. Les patients du groupe [HbSS + HbSB°] sont plus a risque de presenter : une splenectomie, un syndrome thoracique aigu, une hyperfiltration glomerulaire, une hemochromatose, une cholecystectomie. Les patients du groupe [HbSC + HbSB + ] sont plus a risque de presenter : un syndrome d’hyperviscosite clinique (hypoacousie, vertiges, acouphenes) ou une retinopathie. Les patients de plus de 45 ans presentent de facon attendue un nombre plus eleve d’organes atteints (p = 0,002) et sont plus graves (p = 0,004). Il y a une correlation negative entre le nombre d’organes atteints et le taux d’hemoglobine : R = 0,176, p = 0,03. Il n’y a pas de difference de gravite selon le type de mutation beta, alpha, ainsi que selon le lieu de prise en charge dans l’enfance (France ou etranger). Les patients du groupe [HbSS + HbSB°] sont 84 (70 %) et ceux du groupe [HbSC + HbSB + ] sont 11 (25 %) a etre traite par hydroxyuree (HU) OR = 2,8 ; IC95 [1,656–4,733] ; p Conclusion Cette etude fait l’etat des lieux actuel de la population drepanocytaire adulte suivie dans un centre de reference de la drepanocytose francais. Il s’agit d’une population jeune et minoritairement suivie en France depuis l’enfance. Elle presente de nombreuses complications et comorbidites, dont la prevalence varie selon le type de mutation. La majorite beneficie d’un traitement de fond. Les patients arrives en France a l’âge adulte et moins medicalises dans l’enfance ne sont ni plus ni moins severes que les autres. Le vieillissement des patients drepanocytaires et la prevention des complications, associees aux co-morbidites associees au vieillissement naturel est un enjeu majeur pour les annees futures.

Introduction Le syndrome lymphoproliferatiflie a l’X de type 2 (XLP-2), est un deficit immunitaire primitif cause par une mutation du gene XIAP, implique dans l’apoptose. Sa prevalence est inferieure a 1/1 000 000. Il est associe a un mauvais controle de l’infection a EBV et peut se compliquer de syndrome d’activation macrophagique. L’expression phenotypique est heterogene : parfois asymptomatique mais souvent associe a des symptomes evocateurs de maladies inflammatoires chroniques de l’intestin [1] , [2] . Nous rapportons un cas de leucoencephalopathie multifocale progressive (LEMP) survenu chez un patient XIAP a l’âge de 69 ans. Observation Un homme de 69 ans presente des signes deficitaires neurologiques d’aggravation lentement progressive. Il est suivi depuis plusieurs annees pour une mutation XIAP identifiee lors d’une enquete familiale autour de deux cas pediatriques (deux petits-fils). Il n’a pas de manifestation digestive et n’a jamais presente de complication infectieuse notable malgre une hypogammaglobulinemie severe (IgG 2,80 g/L). La PCR EBV est negative a plusieurs reprises durant le suivi et la serologie est positive en IgG. L’IRM cerebrale montre des lesions (hypersignaux T2 et FLAIR de la substance blanche) compatibles avec une LEMP ou un lymphome cerebral. Le phenotypage des lymphocytes B circulants montre une clonalite CD23+ FMC7+ C D22+ CD79b+ CD5− (score de Matutes = 2), et le myelogramme un envahissement medullaire lymphomateux modere. La ponction lombaire ne retrouve pas de cellules anormales, le rapport IL-6/IL-10 est normal, le bilan infectieux comprenant une PCR JC virus (sang et le LCR) est negatif. La TEP-TDM montre une hepatosplenomegalie et des adenopathies sous- et sus-diaphragmatique hypermetaboliques. Une chimiotherapie est debutee pour une presomption de lymphome cerebral sans possibilite de documentation histologique au niveau du S N C. L’etat clinique du patient s’aggrave malgre une premiere cure : une reevaluation est realisee et retrouve une positivite des PCR sang et LCR pour le JC virus. Le patient recoit alors du pembrolizumab (2 mg/kg tous les 15 jours), sans reponse clinique ou radiologique objective. Le traitement est interrompu apres deux injections. Le patient decede rapidement. Discussion Il s’agit, a notre connaissance, du premier cas rapporte de LEMP compliquant un syndrome XLP-2. La mise en place d’une immunotherapie n’a pas permis de controler l’evolution de la maladie. Conclusion La LEMP est une complication associee au syndrome XLP-2.

Le but de cet article est d’examiner la nature et la distribution des vermiculations dans une grotte de la province géologique de Grenville située à la limite est du bouclier canadien. Il s’agit de la première étude sur cette question, au Canada, et plus spécifiquement dans la région de la forêt mixte laurentienne. Les résultats indiquent que ces vermiculations ont une texture qui n’est pas différente du matériel inter-vermiculaire et du matériel meuble qui couvre le plancher et les parois. Ces vermiculations ont des tailles variables, et leur grand axe a parfois tendance à être orienté suivant l’axe de la galerie, ou perpendiculairement par rapport à celle-ci. On suggère que le matériel de ces vermiculations provient des particules qui couvrent le plancher de la caverne. Ces particules sont soulevées dans l’air par le passage des animaux. Elles se déposent ensuite sur les parois, où elles s’agglomèrent. Cette agglomération se fait sous l’influence de l’écoulement de l’air et de l’eau. La présence des vermiculations de la caverne Wilson, ainsi que celle de l’eau contenue dans celles-ci expliquent en partie la dissolution du marbre sur lequel elles sont construites. The aim of this article is to examine the distribution and characteristics of vermiculations found in a cave located in the easternmost region of the Canadian Shield. This is the first study undertaken on this particular topic, on Canadian soil, and more specifically in the Laurentian mixed forest region. Our results indicate that the texture of the material which constitutes the vermiculations found on the Wilson cave walls does not differ from the texture of the inter-vermicular material and the loose soil found on the ground. On the other hand, the size of the vermiculations varies throughout the cave and their longest axis tends to be parallel or perpendicular to the ground. We suggest that these vermiculations are composed of loose material found on the ground of the cave that has been lifted up by animals. The airborne material then accumulates on the walls of the cave and forms these particular patterns. This accumulation depends on the air and water circulation inside the cave. The presence of vermiculations and their water content partially explains the local marble dissolution of walls and ceilings of the Wilson cave.

Introduction La collection sous-periostee orbitaire est une complication rare de la drepanocytose. Nous rapportons le cas d’une jeune fille de 16 ans, suivie pour une drepanocytose SS et hospitalisee en urgence en janvier 2019 pour une exophtalmie douloureuse. Observation Cette jeune fille a ete transfusee dans un contexte de crise vaso-occlusive (CVO) a 3 reprises dans l’annee precedente. Son hemoglobine de base est a 9,5 g/dl, avec une hemoglobine S a 80 % et une hemoglobine fœtale a 14 %. Une tentative d’hydroxycarbamide en 2018 a du etre arretee rapidement sur une neutropenie. La patiente s’est initialement presentee aux urgences pour une CVO des membres inferieurs, ne cedant pas aux antalgiques de palier 1 et au Nefopam. A l’entree, l’hemoglobine est a 8,8 g/dl, les reticulocytes a 129 G/L, les leucocytes a 5,8 G/L et la CRP a 40 mg/L. Un traitement par PCA (Patient Controlled Analgesia) de Morphine est debute rapidement. Le lendemain, la patiente se plaint de douleurs de l’hemiface droite. A l’examen, elle presente une exophtalmie, une ophtalmoplegie et un œdeme palpebral droit. Elle n’a pas de baisse de l’acuite visuelle. L’hemoglobine est a 7,4 g/dl, les leucocytes a 7,6 G/L et la CRP a 100 mg/L. Un scanner cerebral met en evidence un œdeme retro-orbitaire de l’œil droit associe a une collection sous-periostee en regard du droit lateral de l’œil droit, necessitant une intervention chirurgicale en urgence. Une antibiotherapie par Cefotaxime est mise en place en peri-operatoire. Un drainage de la collection hematique sous-periostee est realise et permet des prelevements bacteriologiques qui resteront negatifs. Une IRM orbitaire post chirurgicale ne montre pas d’atteinte du nerf optique, mais la persistance d’une exophtalmie de grade 2 et une infiltration des tissus graisseux intra coniques. La patiente est transferee en post-operatoire immediat dans le service de medecine interne mais presente a 48 heures un syndrome thoracique aigu, avec deglobulisation, pour lequel elle est transfusee de deux culots globulaires et transferee en unite de soins continus. L’antibiotherapie est maintenue pendant 7 jours. L’evolution clinique est rapidement favorable sur le plan clinique et biologique. Sur la gravite de l’atteinte orbitaire et le risque de recidive, un programme d’erythrapherese est initie. Discussion L’espace medullaire hematopoietique etant minime dans les os de la face, notamment dans ceux de l’orbite, il est rare de rencontrer des infarctus osseux orbitaires chez le drepanocytaire. Ils sont plus frequents chez les enfants du fait de la plus grande proportion de tissu hematopoietique medullaire par rapport a l’adulte [1] . Une trentaine de cas sont decrits dans la litterature, avec un âge moyen de 14 ans [2] . Dans environ la moitie des cas, on note la presence d’un hematome sous-perioste [1] , [2] . Les premieres manifestations sont une douleur et un œdeme localises. L’atteinte peut etre bilaterale dans un tiers des cas environ [2] . La principale complication est le syndrome de compression optique, responsable d’une exophtalmie, d’une paralysie oculomotrice, d’une hypoesthesie corneenne et a l’extreme d’une compression du nerf optique [1] , engageant alors le pronostic visuel. Le diagnostic differentiel peut etre difficile avec une ethmoidite, une cellulite de la face ou une osteomyelite [1] . L’elevation des leucocytes et le syndrome inflammatoire ne sont pas discriminants [2] . A l’imagerie, l’absence de pathologie sinusienne et la localisation de la collection sur la paroi laterale de l’orbite sont des arguments en defaveur d’un abces [2] . L’IRM permet de statuer sur la nature hematique ou non de la collection et de mettre en evidence l’infarctus osseux en regard [2] . En cas d’osteomyelite, il apparait, apres injection de Gadolinium, un rehaussement en plage, tandis qu’il est fin et serpigineux en cas d’infarctus osseux [3] . Le traitement medical semble le plus souvent suffisant, comprenant le traitement de la crise et l’utilisation par certaines equipes de corticosteroides [1] , [2] , a utiliser avec precaution dans le contexte de drepanocytose. La chirurgie est reservee aux cas de compression persistante du nerf optique [2] . Conclusion L’hematome sous-perioste secondaire a un infarctus osseux orbitaire est une complication rare mais grave de la drepanocytose, dont le diagnostic doit etre rapide et le traitement adequat, afin de preserver le pronostic visuel. La survenue de cette complication doit faire discuter la mise en place d’un traitement de fond de la drepanocytose.

Leishmaniasis is considered a rural disease in Europe. However, circumstantial evidence has indicated urban transmission of leishmaniasis and phleboviruses in the urban area of Marseille, France. To investigate this urban transmission, sandflies were trapped in 33 locations in the urban area (horse farms, public gardens and a residential area). Sandflies were always captured: 87.8% were Phlebotomus perniciosus, a vector of Leishmania infantum and Toscana and Massilia viruses. RT-PCR and cell culture inoculation identified the Massilia virus in 2/99 pools of sandflies, and PCR identified Leishmania in 5/99. No dual infection was observed, but both pathogens were detected in samples from the same trapping site.

Leptospirosis has been reemerging in both developed and developing countries including Europe, where, this phenomenon has notably been associated with urban transmission. However, the comprehensive data that are needed to fully understand the ongoing epidemiological trends are lacking. In this article, we report surveillance data from throughout Europe, especially in France, to have an overview of this neglected disease in temperate countries. Our results underline the important role of wild rodents as reservoir of leptospirosis, and highlight the potential danger of a reemergence of this under-reported infectious disease in European cities, associated with the important expansion of the rat population in urban areas.

International audience

Background The number of people, both adults and children, traveling abroad, is on the rise. Some seek counseling at travel medicine centers before departure. Methods A prospective study was conducted among children

International audience; Dog bites are a serious public health concern. Besides injuries and the adverse psychological impacts, dog bites can be complicated by infections including rabies, which has the highest case-fatality rate of all infectious diseases. 1 The last case of human rabies acquired in mainland France was reported in 1924 and the last case of fox rabies in 1998. However, rabid dogs are repeatedly imported into France by travelers, with the majority originating from Morocco after having been transported through Spain by car. 2–6 The decision to prescribe rabies vaccine and/or rabies immunoglobulin to patients injured by dogs depends on the origin of the animal. Over-prescription of rabies post-exposure prophylaxis (PEP) has been questioned in France. 7 In Marseille, efforts to minimize over-prescription of the vaccination for rabies PEP has been conducted, by delaying the initiation of rabies treatment in injuries involving an apparently healthy dog that can be kept under observation. 8 However, significant numbers of rabies PEP vaccinations are still given to injured patients due to the high proportion of dogs that cannot be kept under observation. In this context, interventions aimed at reducing the number of dog bites are critical. The reduction of dog-related injuries by educational interventions has shown some success in children, 9,10 although this has been contradicted. 11 As a first step towards the possible implementation of such a strategy in Marseille, we conducted a preliminary survey to describe the epidemiology of dog-related injuries requiring rabies PEP in the city. 2. Materials and methods From 2007 to 2010, epidemiological data on dog-related injuries and associated rabies PEP treatment were prospectively collected from patients attending the Marseille rabies treatment center (RTC) using standardized forms. At the Marseille RTC, Background: Dog bites are a serious public health concern. Besides injuries and the adverse psychological impacts, dog bites can be complicated by infections including rabies, which has the highest case-fatality rate of all infectious diseases. Methods: Dog-associated injuries occurring in the city of Marseille, France were investigated in 245 individuals among patients presenting to the rabies treatment center over a 4-year period. Results: Male patients were more likely to report dog bites compared to female patients (66.5% vs. 33.5%; odds ratio 2.25, 95% confidence interval 1.72–2.93). The mean age of injured patients was 32 years (range 1–85 years). Children and young adults under 30 years of age were more than four times more likely to report dog bites compared to others. Most cases occurred outdoors (73.0%) – in public areas (38.0%) – and involved animals of unknown owners in 56.3% of the cases. Only 28.2% of dogs were available for observation. Most patients (63.7%) received complete rabies post-exposure prophylaxis. The distribution of dog bites in the city was not homogeneous and the incidence of bites was significantly higher in some areas. Eleven percent of patients declared having been bitten by dogs whose owner was a street beggar, and a clustered distribution was evidenced for these cases in one area of the city. Conclusions: Programs offering low-cost rabies vaccination and veterinary care to pets belonging to the group of street beggars should be considered. Such programs may be implemented in other large cities in France and Europe where street beggars are frequently seen. ß

The cholera burden has grown strikingly during the past 4 years, and has spread to countries previously spared by this disease. The current spread has proved especially violent, as illustrated by the recent deadly epidemics around the Lake Chad Basin, in East Africa, and in Haiti. This onset of severe cholera epidemics is part of the overall dynamic of the current seventh cholera pandemic, composed of successive epidemic waves. The current wave is attributable to new atypical El Tor strains, which spread from the Bay of Bengal to Papua in the east, Africa, and the Caribbean Sea in the west, and caused hundreds of thousands of cases and thousands of deaths during each of the last 4 years. The particular severity of the resulting epidemics is partially attributable to the specific characteristics of the atypical El Tor strain involved. Besides the abilty of El Tor to spread easily, this strain is associated with more severe clinical findings, because of elevated levels of toxin secretion resulting from a genetic content originating from classical strains. Conversely, recent studies of these deadly outbreaks raised hope by illustrating their relationship with human-borne dissemination rather than with the resurgence of environmental strains. As human-borne dissemination can be more easily targeted than ubiquitous environmental contamination, accurate and comprehensive epidemiological studies are essential to better understand the dynamics of the disease and to optimize future cholera responses.

Background Anti-RNA polymerase III antibodies (anti-RNAP III) have been reported as potential immune markers of Systemic Sclerosis (SSc). Until now, their clinical use was disregarded because of technical difficulties to perform immunoprecipitation. Recently, ELISA kits became commercially available allowing an easy detection of anti-RNAP III. We intended to clarify the relevance of these antibodies in the diagnosis of SSc by ELISA detection. Methods The prevalence of anti-RNAP III was analyzed using two ELISA kits in 50 consecutive SSc patients from Marseilles in South of France. Controls included 66 patients with other systemic autoimmune diseases, 34 viral diseases and 50 healthy subjects. Positive results with at least one ELISA kit were controlled by immunoprecipitation which is the reference assay. Results In this study, positivity for anti-centromere and/or anti-topoisomerase I antibodies was observed in 84% of SSc patients. The prevalence of anti-RNAP III in SSc patients was 0% to 6% (3/50) depending on the ELISA kit and only 2% by immunoprecipitation. Concerning controls, two rheumatoid arthritis patients were positive using ELISA (6%), including one with immunoprecipitation confirmation. No anti-RNAP III was detected in systemic lupus erythematosus patients. Three blood donors and one viral disease control were positive using ELISA, but all were negative by immunoprecipitation. Conclusions Anti-RNAP III was rarely detected in a French population of SSc patients. Their prevalence was even lower than the one observed in rheumatoid arthritis controls. Therefore local immunologic profiles should be established before deciding a change in clinical practice for SSc immune screening.

In the south of France, Leishmania infantum is responsible for numerous cases of canine leishmaniasis (CanL), sporadic cases of human visceral leishmaniasis (VL) and rare cases of cutaneous and muco-cutaneous leishmaniasis (CL and MCL, respectively). Several endemic areas have been clearly identified in the south of France including the Pyrénées-Orientales, Cévennes (CE), Provence (P), Alpes-Maritimes (AM) and Corsica (CO). Within these endemic areas, the two cities of Nice (AM) and Marseille (P), which are located 150 km apart, and their surroundings, concentrate the greatest number of French autochthonous leishmaniasis cases. In this study, 270 L. infantum isolates from an extended time period (1978–2011) from four endemic areas, AM, P, CE and CO, were assessed using Multi-Locus Microsatellite Typing (MLMT). MLMT revealed a total of 121 different genotypes with 91 unique genotypes and 30 repeated genotypes. Substantial genetic diversity was found with a strong genetic differentiation between the Leishmania populations from AM and P. However, exchanges were observed between these two endemic areas in which it seems that strains spread from AM to P. The genetic differentiations in these areas suggest strong epidemiological structuring. A model-based analysis using STRUCTURE revealed two main populations: population A (consisting of samples primarily from the P and AM endemic areas with MON-1 and non-MON-1 strains) and population B consisting of only MON-1 strains essentially from the AM endemic area. For four patients, we observed several isolates from different biological samples which provided insight into disease relapse and re-infection. These findings shed light on the transmission dynamics of parasites in humans. However, further data are required to confirm this hypothesis based on a limited sample set. This study represents the most extensive population analysis of L. infantum strains using MLMT conducted in France., Author Summary In the south of France, the parasite Leishmania infantum is responsible for diseases that primarily affect dogs but can also impact humans. Several endemic areas have been clearly identified in the south of France including the Pyrénées-Orientales, Cévennes (CE), Provence (P), Alpes-Maritimes (AM) and Corsica (CO). In this study, 270 L. infantum isolates from four endemic areas, AM, P, CE and CO, were assessed using Multi-Locus Microsatellite Typing (MLMT), a tool applied for population genetic studies. MLMT revealed a strong genetic differentiation between the Leishmania populations from AM and P with exchanges observed between these two endemic areas. For four patients, the occurrence of disease relapses and re-infections was examined. These findings shed light on the transmission dynamics of parasites in humans. This study represents the most extensive population analysis of L. infantum isolates using MLMT conducted in France.

Lysozyme (ALys) amyloidosis (Online Mendelian Inheritance in Man 153450), first identified in 1993 by Pepys et al., is a very rare autosomal dominant hereditary non-neuropathic amyloidosis [1]. Lys...

This retrospective study proposes a new reading of immunoblotting (IB) in the diagnosis of congenital toxoplasmosis. Our findings demonstrate that a three-IgM-band association at 75, 90, and 100 kDa called the IgM triplet increases the sensitivity to 95.8% when combined with prenatal and serological neonatal tests.

According to the "cholera paradigm," epidemiology of this prototypical waterborne disease is considered to be driven directly by climate-induced variations in coastal aquatic reservoirs of Vibrio cholerae. This systematic review on environmental determinants of cholera in coastal Africa shows that instead coastal epidemics constitute a minor part of the continental cholera burden. Most of coastal cholera foci are located near estuaries, lagoons, mangrove forests, and on islands. Yet outbreaks often originate in coastal cities, where cholera is more likely to be imported from distant areas. Cholera outbreaks also may intensify in densely populated slum quarters before spreading to adjacent regions. Frequent seasonality of cholera incidence appears driven by the rainfall-induced contamination of unprotected water sources through latrine overflow and sewage, as well as by the periodicity of human activities like fishing or traveling. Lulls in transmission periods of several years are repeatedly recorded even in high-risk coastal areas. To date, environmental studies have failed to demonstrate a perennial aquatic reservoir of toxigenic V. cholerae around the continent. Finally, applicability of the cholera paradigm therefore appears questionable in Africa, although available data remain limited. Thorough surveys with microbiological analyses of water samples and prospective genotyping of environmental and clinical strains of V. cholerae are needed to understand determinants of cholera in coastal Africa and better target prevention and control measures.

Cholera is generally regarded as the prototypical waterborne and environmental disease. In Africa, available studies are scarce, and the relevance of this disease paradigm is questionable. Cholera outbreaks have been repeatedly reported far from the coasts: from 2009 through 2011, three-quarters of all cholera cases in Africa occurred in inland regions. Such outbreaks are either influenced by rainfall and subsequent floods or by drought- and water-induced stress. Their concurrence with global climatic events has also been observed. In lakes and rivers, aquatic reservoirs of Vibrio cholerae have been evocated. However, the role of these reservoirs in cholera epidemiology has not been established. Starting from inland cholera-endemic areas, epidemics burst and spread to various environments, including crowded slums and refugee camps. Human displacements constitute a major determinant of this spread. Further studies are urgently needed to better understand these complex dynamics, improve water and sanitation efforts, and eliminate cholera from Africa.

Background In October 2010, cholera importation in Haiti triggered an epidemic that rapidly proved to be the world's largest epidemic of the seventh cholera pandemic. To establish effective control and elimination policies, strategies rely on the analysis of cholera dynamics. In this report, we describe the spatio-temporal dynamics of cholera and the associated environmental factors. Methodology/Principal findings Cholera-associated morbidity and mortality data were prospectively collected at the commune level according to the World Health Organization standard definition. Attack and mortality rates were estimated and mapped to assess epidemic clusters and trends. The relationships between environmental factors were assessed at the commune level using multivariate analysis. The global attack and mortality rates were 488.9 cases/10,000 inhabitants and 6.24 deaths/10,000 inhabitants, respectively. Attack rates displayed a significantly high level of spatial heterogeneity (varying from 64.7 to 3070.9 per 10,000 inhabitants), thereby suggesting disparate outbreak processes. The epidemic course exhibited two principal outbreaks. The first outbreak (October 16, 2010–January 30, 2011) displayed a centrifugal spread of a damping wave that suddenly emerged from Mirebalais. The second outbreak began at the end of May 2011, concomitant with the onset of the rainy season, and displayed a highly fragmented epidemic pattern. Environmental factors (river and rice fields: p, Author Summary Cholera is the prototypical “waterborne” disease that can provoke deadly acute watery diarrhea epidemics in settings deprived of clean water and proper sanitation. In spite chronic deprivation, Haiti had been spared cholera for a century until the vibrio was imported in October 2010, which triggered the largest national epidemic ever recorded. To better understand the progression of the epidemic and adapt control measures, we describe and analyze the spatio-temporal dynamics and underlying factors associated with the first year of this cholera epidemic in Haiti. Attack rates reached highly heterogeneous levels between communes (from 64.7 to 3070.9 cases per 10,000 inhabitants), thereby suggesting disparate outbreak processes. While the first principal outbreak spread centrifugally like a damping wave that suddenly emerged from Mirebalais and Lower Artibonite, a second principal outbreak erupted at the end of May 2011, concomitant with the rainy season, and displayed a highly fragmented epidemic pattern. Environmental factors, such as rivers and rice fields, appeared to play a role in disease dynamics exclusively during the beginning of the epidemic. The dynamics of the cholera epidemic varied from place to place as time passed, following no clearly predictable scheme. Therefore, cholera control measures in Haiti should include rapid and exhaustive case tracking.

Systemic sclerosis is an autoimmune disease characterized by skin and deep organ fibrosis and obliterative microvasculopathy. Cerebral involvement is currently not recognized as a manifestation of the disease, although several morphologic and functional studies suggested a frequent cerebral involvement in systemic sclerosis. We report a new case of acute cerebral vasculopathy in a patient suffering from systemic sclerosis together with five historical cases identified through a literature review. Cerebral acute vasculopathy most often revealed the disease. Affected patients suffered often from limited or diffuse cutaneous systemic sclerosis. Reversibility of arterial lesions, absence of specific histologic findings, and association with severe peripheral vascular involvement plead for a major role of vasospasm. However, the apparent efficacy of immunosuppressive treatments suggests an association with inflammatory or immune mechanisms. Awareness should be raised because of the severity of the disease, the risk of relapse, and the possible occurrence early in the course of systemic sclerosis.

Late post-operative Aspergillus endocarditis is an under recognized life-threatening complication of heart valvular surgery. Optimal prevention and treatment need enhanced awareness. We report three cases of post-operative Aspergillus flavus endocarditis, including one with a 6-year long incubation period. Microsatellite typing incriminated a recurrent contamination of hospital environment.

Background Visceral leishmaniasis due to Leishmania infantum is currently spreading into new foci across Europe. Leishmania infantum transmission in the Old World was reported to be strongly associated with a few specific environments. Environmental changes due to global warming or human activity were therefore incriminated in the spread of the disease. However, comprehensive studies were lacking to reliably identify all the environments at risk and thereby optimize monitoring and control strategy. Methodology/Findings We exhaustively collected 328 cases of autochthonous visceral leishmaniasis from 1993 to 2009 in South-Eastern France. Leishmaniasis incidence decreased from 31 yearly cases between 1993 and 1997 to 12 yearly cases between 2005 and 2009 mostly because Leishmania/HIV coinfection were less frequent. No spread of human visceral leishmaniasis was observed in the studied region. Two major foci were identified, associated with opposite environments: whereas one involved semi-rural hillside environments partly made of mixed forests, the other involved urban and peri-urban areas in and around the region main town, Marseille. The two neighboring foci were related to differing environments despite similar vectors (P. perniciosus), canine reservoir, parasite (L. infantum zymodeme MON-1), and human host. Conclusions/Significance This unprecedented collection of cases highlighted the occurrence of protracted urban transmission of L. infantum in France, a worrisome finding as the disease is currently spreading in other areas around the Mediterranean. These results complete previous studies about more widespread canine leishmaniasis or human asymptomatic carriage. This first application of systematic geostatistical methods to European human visceral leishmaniasis demonstrated an unsuspected heterogeneity of environments associated with the transmission of the disease. These findings modify the current view of leishmaniasis epidemiology. They notably stress the need for locally defined control strategies and extensive monitoring including in urban environments., Author Summary As Leishmania infantum was reported to be spreading in Europe, we conducted an exhaustive collection of visceral leishmaniasis cases in Provence-Alpes-Cô te d′Azur, the most active focus in France, from 1993 to 2009. The analysis of the 328 cases showed no spread inside the study area and a three-fold decrease of yearly incidence notably because cases associated with AIDS became less frequent. Distribution of the disease showed two distinct foci strongly associated with specific environments. One focus, close to the border with Italy, was associated with areas characterized by scattered habitation and mixed forest in the foothills as previously acknowledged. Oppositely, the other focus was centered in urban areas of Marseille. These results modify our view on the epidemiology of visceral leishmaniasis in Europe by highlighting the ability of the parasite to spread into urban environments. These findings stress the need for continuation of monitoring and prevention efforts and demonstrate that control strategy should be locally defined.

Summary Objectives Congenital toxoplasmosis remains a public health problem throughout the world. Long-term longitudinal studies are still needed to argument controversial screening and treatment strategies and to enable to accurately counsel parents. Methods We conducted a prospective cohort study over 16 years in Marseilles, France. Seronegative pregnant women underwent monthly serological testing. Children were treated antenatally with rovamycine as soon as maternal infection was detected and with pyrimethamine and sulfadoxine in case of positive Toxoplasma PCR on amniotic fluid. Postnatal treatment with pyrimethamine and sulfadoxine was systematically prescribed for one year and possibly continued at the physician discretion. Results 127 children were included. 24 children (18.9%) presented ocular lesions causing visual impairment in eight cases. Eleven children (8.7%) presented with ocular lesions at birth, mostly macular. Sixteen children (12.6%) developed ocular lesions during follow-up, mostly peripheral. The first ocular lesion could occur as late as 12 years after birth. No significant risk factor of chorioretinitis was identified including gestational age at infection, type of antenatal treatment and shorter postnatal treatment. Conclusions These results confirm the overall good prognosis of congenital toxoplasmosis in Europe but highlight though a low risk of late ocular manifestation. Chorioretinitis affected 18.9% of children suffering from congenital toxoplasmosis despite antenatal and neonatal screening associated with early treatment. Long-standing follow-up is needed because first lesion can occur as late as 12 years after birth. Late lesions were less often macular but nevertheless caused sometimes visual impairment.

Antenatal diagnosis of congenital toxoplasmosis relies on PCR in amniotic fluid. Because parasitic load is often low, DNA extraction must be optimized. Manual methods remain widespread although automated methods appear more effective. This study aimed at optimizing an automated method and at comparing it with a widespread manual method: QIAamp DNA minikit. To optimize NucliSens easyMAG, we evaluated the addition of proteinase K pre-treatment and the increase of the amount of silica particles used for the extraction. The optimized method was then compared to QIAamp DNA minikit on samples containing less than 25 tachyzoites/ml. NucliSens easyMAG DNA yield was improved after proteinase K pre-treatment (p < 0.01), but not with a higher silica particle input. The optimized method yielded more positive PCRs than the manual method, especially for samples containing 5 tachyzoites/ml or less (71% vs 26%, p < 10(-4)). The DNA amount in samples found positive by PCR was higher after optimized automated extraction than after manual extraction (p < 10(-4)). Proteinase K pre-treatment should be added to extract DNA from amniotic fluid using NucliSens easyMAG. Using this optimized automated method rather than manual methods would improve the sensitivity of Toxoplasma PCR and simplify the daily workflow.

Summary Objective Leishmania infantum mucosally restricted leishmaniasis was rarely reported, so that diagnostic and treatment strategies remain debated. A long-term multicentric survey appeared thereby necessary. Methods Cases were prospectively collected over 12 years in 3 academic hospitals of Southern France. Predisposing factors, clinical findings, diagnostic procedures, treatment and outcome were compared to medical literature. Results Ten new cases and 40 historical reports were collected. Respectively 10/10 and 35/40 patients were adult males. Immunodeficiency was frequent (5/10 and 18/40). No previous cutaneous lesion was reported. Leishmaniasis affected mostly larynx (5/10 and 19/40), but also mouth (2/10 and 19/40) and nose (3/10 and 5/40). Lesions were highly polymorph. Mucosa histological examination provided respectively 1/10 and 2/40 false negative results, contrary to serum immunoblotting and PCR on mucosal biopsy. Although local response was always satisfactory even using topical treatment, subsequent visceral spreading was observed in 2/10 and 1/40 cases. Conclusion L. infantum mucosally restricted leishmaniasis exhibits a specific pattern, marked by tropism for adult males, high clinical and histological polymorphism. Immunoblot screening and PCR confirmation of suspected lesions are necessary because of direct examination occasional false negative results. The risk of visceral spreading sustains systemic therapy. Summary Leishmania infantum mucosal leishmaniasis mostly affects adult males, half of them immunodeficient. Clinical and histological polymorphism makes the diagnosis difficult, stressing the need for immunoblot screening and mucosa PCR analysis of suspected cases. Possible visceralization sustains systemic therapy.

Anti-RNA polymerase III antibodies (anti-RNAP III) have been reported as potential immune markers of Systemic Sclerosis (SSc). Until now, their clinical use was disregarded because of technical difficulties to perform immunoprecipitation. Recently, ELISA kits became commercially available allowing an easy detection of anti-RNAP III. We intended to clarify the relevance of these antibodies in the diagnosis of SSc by ELISA detection.The prevalence of anti-RNAP III was analyzed using two ELISA kits in 50 consecutive SSc patients from Marseilles in South of France. Controls included 66 patients with other systemic autoimmune diseases, 34 viral diseases and 50 healthy subjects. Positive results with at least one ELISA kit were controlled by immunoprecipitation which is the reference assay.In this study, positivity for anti-centromere and/or anti-topoisomerase I antibodies was observed in 84% of SSc patients. The prevalence of anti-RNAP III in SSc patients was 0% to 6% (3/50) depending on the ELISA kit and only 2% by immunoprecipitation. Concerning controls, two rheumatoid arthritis patients were positive using ELISA (6%), including one with immunoprecipitation confirmation. No anti-RNAP III was detected in systemic lupus erythematosus patients. Three blood donors and one viral disease control were positive using ELISA, but all were negative by immunoprecipitation.Anti-RNAP III was rarely detected in a French population of SSc patients. Their prevalence was even lower than the one observed in rheumatoid arthritis controls. Therefore local immunologic profiles should be established before deciding a change in clinical practice for SSc immune screening.