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We present a way for modelers to include the OH + Hg reaction while accounting quantitatively for the dissociation of HOHg•. We use high levels of quantum chemistry to establish the HO-Hg bond energy as 11.0 kcal/mole, and calculate the equilibrium constant for OH + Hg = HOHg•. Using the measured rate constant for association of OH with Hg, we determine the rate constant for HOHg• dissociation. Theory is also used to demonstrate that HOHg• forms stable compounds, HOHgY, with atmospheric radicals (Y = NO2, HOO•, CH3OO•, and BrO). We then present rate constants for use in in modeling OH-initiated oxidation of Hg(0). We use this mechanism to model the global oxidation of Hg(0) in the period 2013-2015 using the GEOS-Chem 3D model of atmospheric chemistry. Because of the rapid dissociation of HOHg•, OH accounts for

International audience; Primary antibody deficiency (PAD) is characterized by a defective immunoglobulin production and recurrent infections, mostly involving respiratory and gastrointestinal tracts. Chronic or recurrent diarrhea is reported in up to 23%. Campylobacter infection is a common cause of infectious diarrhea, reported in 1.2% to 7.5% of patients with common variable immunodefi-ciency (CVID), the most frequent PAD. The aim of this study was to describe Campylobacter infection in patients with PAD included in a large nationwide study and analyze factors associ-ated with susceptibility to this pathogen. The DEFI (DEFicit Immunitaire) study is an ongoing large cross-sectional French multicentric study of adults with PAD, with retrospective collection of clinical data. All patients with a history of bacteriologically documented Campylobacter infection were identified, and clinical data were collected for each episode. Factors associated with recurrent infection were assessed as oddsratio (OR) and 95% confidence interval (CI), calculated by means of simple regression analysis. In patients with available material, strains of each episode were characterized using molecular analysis and compared (Table E1, available in this article’s Online Repository at www.jaci-inpractice.org). A com-parison of immunodeficiency-related characteristics of patients with and without Campylobacter infection was performed in the homogeneous group of patients with CVID. The control group included patients with CVID from DEFI centers who confirmed that patients did not develop Campylobacter infection after enrollment (Figure E1, available in this article’s Online Repository at www.jaci-inpractice.org). After correction for multiple comparisons, P

Objective.To explore the accuracy of tricuspid regurgitation velocity (TRV) to right ventricular outflow tract time-velocity integral (TVIRVOT) ratio by Doppler to determine pulmonary vascular resistance (PVR) in patients with systemic sclerosis (SSc).Methods.Thirty-five consecutive adult patients with SSc, fulfilling the 2013 European League Against Rheumatism/American College of Rheumatology classification criteria, with sinus rhythm referred for right heart catheterization (RHC), were retrospectively included. All patients underwent a transthoracic echocardiogram (TTE) performed within 24 h of RHC. Patients with SSc were recruited regardless of disease activity, cardiac symptoms, and treatment regimen. Doppler measurements were compared to RHC measurements. A linear regression equation was generated to predict PVR by echocardiogram based on the TRV/TVIRVOT ratio. The accuracy of Doppler measurements for predicting PVR > 3 Wood units was assessed by computing the areas under the receiver-operating characteristic curves.Results.There were 20 (57%) females in the study. The mean age was 65 ± 12 years. Mean and systolic pulmonary arterial pressures were 31 ± 8 and 53 ± 15 mmHg, respectively. There was a good correlation between TRV/TVIRVOT ratio assessed by Doppler and PVR measured by RHC (R = 0.743, p < 0.001). The equation generated by this analysis was the following: PVR by Doppler = 11.3 × (TRV/TVIRVOT) + 1.7. A cutoff value of 0.21 for TRV/TVIRVOT ratio provided the best sensitivity (86%) and specificity (86%) to determine PVR > 3 Wood units.Conclusion.Our study suggests that TTE using Doppler could be a useful and noninvasive tool for estimating PVR in patients with SSc.

Resume L’analyse des composants allergeniques moleculaires est d’une aide precieuse au cours de l’allergie alimentaire, surtout dans les tableaux d’allergies croisees. Un homme de 39 ans consulte pour des symptomes a type de syndrome oral severe et d’urticaire induite par des aliments vegetaux varies. Les symptomes les plus severes surviennent a l’ingestion de cerises. Les tests cutanes montrent une sensibilisation aux pollens de bouleau et a de nombreux fruits. La puce ISAC® permet de detecter des IgE specifiques dirigees contre l’ensemble des PR10 explorees et d’eliminer la responsabilite des LTP. Ce test a permis d’adapter la composition de la trousse d’urgence, de conseiller le patient sur ses evictions et de le rassurer sur les risques de reactions graves de type anaphylactique.

Light chain deposition disease (LCDD) is a rare disease resulting from non-amyloid immunoglobulin (Ig) light chain deposition in tissue. In systemic LCDD, plasma cell dyscrasia is common and renal involvement is almost always present, sometimes with damage to other organ systems (cardiac, hepatic and neurological systems). LCDD can be limited to the lungs, presenting as multiple cystic lung disease, nodules or bronchiectasis. Cystic lung related to LCDD (CL-LCDD) was recently described in patients referred for lung transplantation to treat end-stage multiple cystic lung disease [1]. In the reported cases, blood and bone marrow examinations did not reveal clonal plasma cell proliferation. Here we report the first case of CL-LCDD revealing a B-cell extrapulmonary lymphoproliferative disorder and the results of treatment for the underlying haematological disease with autologous peripheral blood stem cell transplantation during the CL-LCDD. Despite respiratory insufficiency, lung transplantation was actually not considered because of the underlying disease. We report a case of CL-LCDD that was treated with autologous peripheral blood stem cell transplantation

Background: Cardiac output (CO) is a prognostic factor in pulmonary hypertension (PH). Right heart catheterisation using the direct Fick method or thermodilution (TD) is the reference technique for CO measurement. Impedance cardiography (IPc) is a known non-invasive method of measuring CO. Objectives: In our study, we assume that the measurement of CO by IPc using the PHYSIOFLOW® system is as accurate as TD or using the direct Fick method in patients with PH in group 1 or group 4. Methods: A total of 75 patients were enrolled in a prospective study carried out at the hypertension reference centre of Toulouse University Hospital. Right heart catheterisation was performed for the diagnosis or follow-up of the disease. CO was measured using the Fick method, TD, and IPc simultaneously. A Bland-Altman analysis was plotted. Results: CO was 5.7 ± 1.9 L/min as measured by the Fick method, 5.4 ± 1.5 L/min by TD, and 5.5 ± 1.7 L/min by IPc. The bias between CO measurements by IPc and the direct Fick method was 0.149 L/min (95% CI, –0.298 to 0.596). The bias between CO measurements by IPc and the TD method was –0.153 L/min (95% CI, –0.450 to 0.153). The correlation decreased with the more extreme CO values (< 3 L/min or > 7 L/min). A few factors changed the agreement between measurements (BMI or membership in group 4). Conclusion: To conclude, this study shows that the measurement of CO by IPc in PH patients is reliable compared to the direct Fick method and TD obtained by right heart catheterisation. This accuracy decreases for extreme CO values.

Background One of the major causes of systemic sclerosis (SSc)-related death is pulmonary arterial hypertension, which develops in 12–15% of patients with SSc and accounts for 30–40% of deaths. Consequently, monitoring of pulmonary arterial pressure (PAP) and resistances is essential in patients with SSc. Abbas formula performed by transthoracic echocardiography (TTE) was reported as a good tool to quantify pulmonary vascular resistances (PVR). Objectives Explore the accuracy of TTE and Abbas formula to quantify PVR in patients with SSc. Methods All consecutive patients with SSc, diagnosed according to the 2013 ACR/EULAR criteria, or the LeRoy and Medsger criteria for diffuse or limited subsets classification, had within 24H a Doppler echocardiographic examination and right-heart catheterization were performed. The ratio of peak tricuspid regurgitant velocity (TRV, ms) to the right ventricular outflow tract time-velocity integral (TVIRVOT, cm) obtained by Doppler echocardiography (TRV/TVIRVOT) was then correlated with invasive PVR measurements using regression analysis. An equation was modeled to calculate PVR in Wood units (WU) using echocardiography, and the results were compared with invasive PVR measurements [1]. Results Thirty-three consecutive patients were included, 13 (39.4%) were male and the mean age was 64.6±12.1 years. Most were classified as limited cutaneous SSc (lcSSc; n=29, 87.9%). All patients tested positive for antinuclear antibodies, 18 (21.2%) for anti-scleroderma-70, 7 (54.5%) for anticentromere antibodies and 2 (6.1%) for anti-RNA polymerase III antibodies. Mean and systolic PAP were 31±9 and 53±16 mmHg respectively. There was a good correlation between right ventricle to right atrium gradient pressure assessed by TTE and RHC (R=0.620, P Conclusions Doppler echocardiography using Abbas formula may provide a reliable, noninvasive method to determine PVR in SSc patients. References Abbas AE, Fortuin FD, Schiller NB, Appleton CP, Moreno CA, Lester SJ. A simple method for noninvasive estimation of pulmonary vascular resistance. J Am Coll Cardiol. 2003 Mar 19;41(6):1021–7. Disclosure of Interest None declared

Because of early and effective therapies, an increasing numbers of young people with cystic fibrosis (CF) reach adulthood. Preparing for and maintaining high quality CF care in the adult healthcare is critical for prolonged survival. Because adverse health consequences occur when inadequate transition arrangements are in place, safely transferring patients from pediatric to adult care is a priority. Key features include an early preparation, planning and self-management skills, a coordinated approach and a detailed communication between patients, families, pediatric and adult teams. Formal transition protocols and audits can support the process and be helpful for multidisciplinary teams.

Antisynthetase syndrome is characterised by the association of interstitial lung disease and myositis with different anti-tRNA-synthetase antibodies. The occurrence, aetiology and prognosis of pulmonary hypertension have not yet been evaluated. Among 203 consecutive patients, transthoracic echocardiogram and right heart catheterisation results were retrospectively analysed in the light of clinico-biological, morphological and functional parameters. Definitions of pulmonary hypertension were based on the European Society of Cardiology/European Respiratory Society 2009 guidelines, with severe pulmonary hypertension being defined by a mean pulmonary arterial pressure >35 mmHg. Pulmonary hypertension was suspected by transthoracic echocardiogram in 47 (23.2%) cases, corresponding to pulmonary hypertension "possible" (n=27, 13.3%) or "likely" (n=20, 9.9%). Right heart catheterisation was performed in 21 patients, excluding pulmonary hypertension in five and confirming pre-capillary pulmonary hypertension in 16 (7.9%). Although related to interstitial lung disease in all cases, pre-capillary pulmonary hypertension was severe in 13 (81.3%) patients (mean ± sd pulmonary arterial pressure 46 ± 9 mmHg), frequently associated with low cardiac index (mean ± sd 2.3 ± 0.8 L · min(-1) · m(-2)) and high forced vital capacity/diffusing capacity of the lung for carbon monoxide ratio (2.5 ± 0.6). Pulmonary hypertension was significantly associated with a lower survival rate (p

International audience; BACKGROUND:In 2014, the European Society for Immune Deficiencies (ESID) revised the common variable immunodeficiency (CVID) diagnosis criteria by incorporating new clinical and biological markers. The new definition appeared more restrictive but had not yet been evaluated in a large cohort of patients.OBJECTIVE:The objective of this study was to evaluate the impact of this new definition in a large cohort of patients with primary hypogammaglobulinemia.METHODS:Evaluation of 3 different CVID definitions (ESID/Pan-American Group for Immunodeficiency [PAGID] 1999, ESID 2014, DEFI 2015) in 521 patients included in the French DEFI study with a diagnosis of primary hypogammaglobulinemia.RESULTS:Using the ESID/PAGID 1999 definition, 351 patients were classified as CVID. The new ESID 2014 definition excluded 62 (18%) patients. Most of them (n = 56; 90%) had a less severe disease, whereas 6 (10%) presented with a severe disease with major T-cell defect. We propose different criteria (occurrence of opportunistic infection or very low naive CD4+ T-cell count) to define this population with severe T-cell defect. Sixty-two patients fulfilled these criteria, represented 20% of the initial CVID population but accounted for 77% of the deaths, with a 5-year overall survival of 67.6% (95% confidence interval, 51.0-79.6), and were considered as late onset combined immunodeficiency (LOCID).CONCLUSIONS:The new ESID definition for CVID still fails to exclude a large number of patients with severe T-cell defect. We propose a new definition (DEFI 2015) that excluded more patients with a T-cell defect and consider these patients as LOCID. This population has a poor outcome and should be considered as a distinct group requiring specific care.

Background One of the major causes of systemic sclerosis (SSc)-related death is pulmonary hypertension (PH), which develops in 12–15% of patients with SSc and accounts for 30–40% of deaths. Cardiac involvement is common in SSc and has been reported to range from 23 to 32%. Both pathophysiological processes can lead to PH. Consequently, monitoring of pulmonary arterial resistances (PVR) is essential in patients with SSc. Tricuspid regurgitation velocity (TRV) to right ventricular outflow tract time-velocity integral (VTIRVOT) ratio by Doppler has been reported as a good tool to quantify PVR. Aim Explore the accuracy of TRV/VTIRVOT ratio by Doppler to quantify PVR in patients with SSc. Methods and results Thirty-five consecutive patients with SSc referred for right heart catheterization (RHC) were retrospectively included. Doppler measures were compared to RHC measures. There were 20 (57%) female. The mean age was 65 ± 12 years. Mean and systolic pulmonary arterial pressures were 31 ± 8 and 53 ± 15 mmHg. There was a good correlation between TRV/VTIRVOT ratio assessed by Doppler and PVR measured by RHC (R = 0.743, P 3 Wood units ( Fig. 1 ). Conclusion Our study suggests that transthoracic echocardiography using Doppler could be an interesting and non-invasive tool to estimate PVR in patients with SSc.

Resume L’asthme severe est une maladie a l’evidence heterogene. Le phenotypage de l’asthme severe, jusqu’a present centre sur les seuls aspects cliniques beneficie des nouveaux outils d’evaluation de l’inflammation des voies aeriennes et des techniques d’analyse multiparametriques permettant de regrouper les malades en fonction de differentes caracteristiques cliniques et biologiques. Cette approche moderne confirme que l’asthme severe est une entite heterogene qui doit pouvoir beneficier d’une prise en charge personnalisee adaptee aux caracteristiques des patients. Elle confirme egalement l’interet de developper de nouvelles therapeutiques ciblees de l’inflammation des voies aeriennes.

Resume Introduction La frequence elevee des manifestations respiratoires d’allure asthmatique a ete clairement demontree chez les athletes de haut niveau. Les donnees chez les sportifs occasionnels et sur les autres manifestations atopiques (rhinite allergique, sensibilisations aux allergenes) sont plus contradictoires. Methodes Une association entre le temps d’entrainement et la presence d’une rhinite allergique ou de critere d’atopie a ete recherchee chez 153 sujets de niveaux sportifs differents. Dans un sous-groupe de sujets s’entrainant intensement (au moins dix heures hebdomadaires), l’influence du mode de pratique (exterieur/interieur, endurance/resistance) a ete analysee. Resultats Aucune association n’a ete retrouvee entre le temps de pratique sportive et l’existence de rhinite allergique ou d’atopie. Chez les sportifs s’entrainant intensivement, la pratique en milieu interieur etait significativement associee a la rhinite allergique. Parmi les sportifs s’entrainant intensivement, 32,1 % etaient porteurs de rhinite allergique. Soixante-cinq pour cent des rhinites allergiques responsables d’un inconfort nasal n’etaient pas traitees. Conclusions Le temps de pratique sportive n’est pas directement lie a la presence de rhinite allergique ou d’atopie. Le lieu de pratique sportive semble jouer un role. La rhinite allergique reste frequente et negligee chez le sportif.

Introduction: Cardiac output (CO) is one of the most important prognostic factor in PH and is required for the assessment of treatment response. CO is measured invasively by right heart catheterization by thermodilution or the Fick method. Impedance cardiography (IP) measures CO and is noninvasive, simple and provides immediate results. Objectives: The main objective of this feasibility study was to assess the accuracy of of CO measures performed IP compared to the Fick method in selected patients treated for PH (Group 1 or 4). Secondary objectives were to evaluate the accuracy of CO evaluation by IP compared to thermodilution and to determine the factors that may affect the measures. Methods: Patients were recruited from the cohort of the Competence Center PH of Midi-Pyrenees, France. The three techniques (Fick, thermodilution and IP) were realized at the same time during right heart catheterization performed in the patient follow up. All patients had confirmed PH from Group 1 or group 4. Results: We had recruited 37 subjects in the study. (31 patients group 1 and 6 patients group 4). The CO measured by IP correlates with the CO measured by the Fick method: ρ=0.62 CI 95% [0.3064; 0.8124] (P Conclusion: This pilot study validates the measurement of CO by IP in patients with PH (group 1 or 4). This suggests a potential role of the non-invasive IP in the follow up of PH patients.

International audience; Some bacterial species recovered from the airways of cystic fibrosis (CF) patients are indisputably associated with lung infections, whereas the clinical relevance of others, such as Nocardia spp., remains unclear. Sixteen French CF cases of colonization/infection with Nocardia spp. were reviewed in order to evaluate the epidemiology, the clinical impact and the potential treatment of these bacteria, and results were compared to those of the literature. Five Nocardia species were identified, Nocardia cyriacigeorgica being the major species (50 % of cases). At first isolation, Nocardia was the sole pathogen recovered in six patients. Seven patients presented pulmonary exacerbation. For 12 patients, antimicrobial treatment against Nocardia was started immediately, mainly based on cotrimoxazole (6 of the 12 cases). In this study, we highlight the heterogeneity of the clinical management of Nocardia spp. in CF. Guidelines for the clinical management of Nocardia infections in CF patients are proposed.

Objectif Paecilomyces lilacinus (PL) et variotii (PV) sont des champignons opportunistes emergents, non etudies dans la mucoviscidose. Methode Etude retrospective aux CRCM enfants et adultes de Toulouse sur les donnees informatisees du 01/01/2008 au 01/09/2014. Sont etudiees les caracteristiques des patients au 1 er isolement de Paecilomyces (P) dans l’expectoration, et leur evolutivite : VEMS et IMC en % de la norme, a 1 an et 2 ans avant et apres, et le type de colonisation bronchique chronique, intermittente ou ponctuelle. Resultat Sur cette periode sont realisees 3337 analyses microbiologiques de l’expectoration chez 98 enfants (de plus de 5 ans) et 164 adultes ; 39 (1,1 %) sont positifs pour P. Vingt patients ont au moins une fois du P : 2 colonisations chroniques (PL), 4 intermittentes (PL) et 14 ponctuelles (12 PL, 2 PV). Au 1 er isolement, l’âge median est de 13 ans (9 a 36), le VEMS median de 82 % (28 a 112) et le BMI median de 94 % (79 a 113). Tous sont colonises a Pseudomonas aeruginosa , 17 a S. aureus , et 14 a Aspergillus . La charge therapeutique semble elevee : l’annee precedente, 11 (55 %) ont de l’itraconazole, 13 une corticotherapie (12 inhalees, 1 par voie orale), 14 de l’azithromycine, 10 une antibiotherapie inhalee, 10 des ATB IV. Le profil des patients selon le type de colonisation ne differe pas, hormis l’itraconazole prescrit chez 100 % des patients chroniques et intermittents (vs 35 % chez les colonises ponctuels). P ne semble pas influencer l’evolutivite : VEMS et BMI restent stables. Conclusion P semble peu pathogene, mais survient chez des patients avec une charge therapeutique elevee. La sensibilite diminuee de P a l’itraconazole peut evoquer une pression de selection par ce traitement.

Introduction Le syndrome POEMS est un syndrome paraneoplasique rare caracterise par une atteinte multisystemique associant une polyneuropathie, une organomegalie, une endocrinopathie, une atteinte cutanee et une dyscrasie plasmocytaire monoclonale. Il peut se compliquer d’hypertension pulmonaire (HTP). Methodes Un patient de 55 ans suivi pour un syndrome POEMS presente une recidive clinique et biologique avec une dyspnee et des signes d’insuffisance cardiaque droite. Une chimiotherapie par bortezomib, cyclophosphamide et dexamethasone (VCD) est entreprise permettant une amelioration partielle des symptomes. Apres 3 mois de traitement, le patient est hospitalise aux soins intensifs pour choc cardiogenique sur insuffisance cardiaque droite aigue. Le catheterisme cardiaque droit confirme une HTP precapillaire ; le bilan etiologique est negatif en dehors du syndrome POEMS. Le patient alors en classe fonctionnelle IV malgre un traitement par corticoide, diuretique et dobutamine beneficie d’une autogreffe de cellules souches en secteur de reanimation. Une amelioration est observee, clinique et hemodynamique. Le taux sanguin de VEGF passe progressivement de 3000 pg/mL a 270 pg/mL (normale inferieure a 500 pg/mL). Resultats L’HTP associee au syndrome POEMS (prevalence echocardiographique estimee entre 5 et 48 %) est generalement reversible sous traitement corticoides. Le traitement du composant monoclonal est parfois necessaire. Dans les formes refractaires, ce cas clinique montre que l’HTP peut repondre a l’autogreffe de cellules souches. La cinetique du VEGF est correlee a l’evolution hemodynamique. Conclusion L’hypertension pulmonaire peut etre une indication a un traitement par autogreffe de cellules souches dans les formes refractaires de syndrome POEMS.

Introduction L’impedancemetrie cardiaque (IPc) permet une evaluation rapide du debit cardiaque (QC). Dans une etude de faisabilite nous avons demontre que le QC mesure par IPc etait correle aux QC par methode de thermodilution et de Fick chez les patients suivis pour une hypertension pulmonaire (HTP) du groupe 1 ou 4 (biais entre IPc et fick 0,232 [−0,291 a 0,756] L/min, entre IPc et TD −0,117 [−0,487 a 0,252] L/min). Le but de ce travail est de cibler la population qui pourrait beneficier d’une mesure fiable du QC en IPc dans le suivi. Methodes Etude prospective sur 75 patients. Le QC est mesure simultanement par IPc et par catheterisme cardiaque droit de repos au cours du diagnostic ou du suivi. L’objectif est d’analyser les facteurs physiologiques et pathologiques influencant la mesure du QC par IPc. Les patients presentant une HTP du groupe 1 ou du groupe 4 sont inclus via le centre de competence d’HTAP de Midi-Pyrenees. Trente variables ont ete analysees en uni- et multivariee par regression logistique afin d’examiner leur impact. Resultats Par l’analyse de Bland et Altman le biais est de 0,149 L/min [−0,298 et 0,596] entre le QC par IPc et par la methode de Fick. La POD (pression dans l’oreillette droite) > 7 mmHg ( p = 0,08) est associee a une moins bonne correlation entre ces 2 methodes de mesure. Entre la mesure du QC par IPc et par thermodilution, le biais mesure est de −0,153 L/min [−0,450 et 0,153]. Seule l’appartenance au groupe 4 ( p 7 mmHg tend egalement a alterer la fiabilite de cette mesure. De faibles valeurs du QC (fick ou thermodilution) ou les valeurs de PAPm n’ont pas d’impact sur la mesure de l’IPc. La presence d’un shunt intracardiaque rend le signal de mesure par IPc instable. Conclusion La mesure du QC par IPc chez les patients suivis pour une HTP du groupe 1 et 4 est fiable. Cependant cette technique doit etre utilisee avec prudence chez les patients avec POD elevee.

Because of early and effective therapies, an increasing numbers of young people with cystic fibrosis (CF) reach adulthood. Preparing for and maintaining high quality CF care in the adult healthcare is critical for prolonged survival. Because adverse health consequences occur when inadequate transition arrangements are in place, safely transferring patients from pediatric to adult care is a priority. Key features include an early preparation, planning and self-management skills, a coordinated approach and a detailed communication between patients, families, pediatric and adult teams. Formal transition protocols and audits can support the process and be helpful for multidisciplinary teams.

Introduction La discussion multidisciplinaire (DMD) est determinante pour la prise en charge des pneumopathies interstitielles diffuses chroniques (PID). Un de ses roles est d’identifier les situations ou une biopsie pulmonaire chirurgicale (BPC) est necessaire au diagnostic. L’objectif du travail est de determiner si une proposition de BPC formulee en DMD est suivie d’effet. Methodes Il s’agit d’une etude retrospective monocentrique (service de pneumologie du CHU Larrey, Toulouse). Les dossiers pour lesquels une BPC a ete jugee necessaire pour le diagnostic etiologique d’une PID chronique entre janvier 2011 et decembre 2014 sont selectionnes dans la base de donnees de la DMD. Resultats Sur les 459 dossiers discutes sur la periode concernee, une indication de BPC a ete retenue chez 58 patients. La BPC n’a pas ete realisee chez 18 d’entre eux (31 %) ; les diagnostics suspectes sont principalement des PID idiopathiques chroniques fibrosantes (fibrose pulmonaire idiopathique -7/18- et pneumopathie interstitielle non specifique -2/18-) et des PID indeterminees (5/18). La population n’ayant pas beneficie de la BPC est majoritairement masculine (77 % vs 57 % pour la population ayant effectue la BPC, p > 0,05), fumeurs actifs ou sevres (23 % vs 47 %, p Conclusion Un tiers des BPC proposees en DMD n’est pas effectue ; cela concernerait les PID les moins severes. Le refus du patient est la principale cause ; le contenu de la consultation expliquant l’interet du geste doit etre reconsidere.

CCHS or Ondine9s curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxemia. PHOX2B has been identified as the major disease causing gene for CCHS. It results from polyalanine repeat expansion mutations. It typically occurs in the newborn period, but some cases have been described on adults (late onset CCHS) and reflects the variable penetrance of PHOX2B mutations. A 48 year-old woman presented after an ovarian cyst surgery a severe hypoventilation requiring intubation. Arterial blood gas revealed a PO2 of 50 mmHg, a PCO2 of 80 mmHg and a pH of 7,22. Past medical history indicated poor apparent symptoms for few years. These included apneas, fitfully sleep and awakening with headaches. Physical examination and pulmonary function tests, lung tomography, magnetic resonance imaging of the brainstem were normal. Polysomnography revealed many central and obstructive apneas and hypopneas (apnea-hypopnea index of 22/h) with severe hypoxemia (SpO2 average 75%) and hypercapnia (transcutaneous CO2 85mmHg). Non invasive ventilation was initially poorly tolerated. Finally, she responded to an adaptative servo ventilation. Hypoxia and hypercapnia tests showed no adaptation of the ventilatory response. Genetic analysis showed a heterozygous five alanine expansion mutation of the 20-residue polyalanine tract in exon 3 of the PHOX2B gene. The diagnosis of late onset CCHS should be considered in patients with unexplained hypoventilation after anesthesia, and physiologic evaluations documenting abnormal ventilatory response should be completed. The presence of a PHOX2B mutation confirms the diagnosis.

To compare cardiac MRI with right heart catheterisation in patients with pulmonary hypertension (PH) and to evaluate its ability to assess PH severity. Forty patients were included. MRI included cine and phase-contrast sequences, study of ventricular function, cardiac cavity areas and ratios, position of the interventricular septum (IVS) in systole and diastole, and flow measurements. We defined four groups according to the severity of PH and three groups according to IVS position: A, normal position; B, abnormal in diastole; C, abnormal in diastole and systole. IVS position was correlated with pulmonary artery pressures and PVR (pulmonary vascular resistance). Median pulmonary artery pressures and resistance were significantly higher in patients with an abnormal septal position compared with those with a normal position. Correlations were good between the right ventricular ejection fraction and PVR, right ventricular end-systolic volume and PAP, percentage of right ventricular area change and PVR, and diastolic and systolic ventricular area ratio and PVR. These parameters were significantly associated with PH severity. Cardiac MRI can help to assess the severity of PH.

Platypnea orthodeoxia syndrome (POS) is a rare situation with hypoxia and breathlessness varying between upright and recumbent position. A mechanical inter-atrial septum distortion, causing redirection of flow from the right to the left atrium through a patent foramen ovale (PFO), despite normal pulmonary pressure, is suggested to explain POS. Prevalence of predisposing anatomical factors remain little known. Methods All patients who underwent a PFO closure for a POS were retrospectively included from 2 CHU. Aetiologies were investigated. Results 67 patients (Median age 72 y.o., interquartile 61-80; 58.2% men) were included. All patients had dyspnea (76.2% NYHA III or IV, 53.7% under oxygen-therapy). The remaining patients had a refractory hypoxemia (38.2%) without POS. The most frequent predisposing anatomical factor was an enlarged or unwound aorta (n=29, 43.3% 95CI 31.2-56.0) with an aortic aneurysm in 25 patients (37.3%, 95CI 25.8-50.0). Other factors identified were pneumonectomy (n=8, 11.9% CI95 5.3-22.2), a history of cardiac surgery (n=7, 10.5%, 95CI 4.3-20.3), mechanical ventilation (n=6, 9.0% 95CI 3.4-18.5), kyphoscoliosis (n=4, 6.0% 95CI 1.7-14.6), hepatomegaly (n=4, 6.0% 95CI 1.7-14.6, 2 patients with hepato-renal polycystic disease, one hemochromatosis and one cirrhosis), right ventricle failure (n=2,3.0% 95CI 0.4-10.4), pericardial effusions (n=2,3.0% 95CI 0.4-10.4), right ventricle arrhythmogenic dysplasia (n=2,3.0% 95CI 0.4-10.4), diaphragmatic paralysis (n=1, 1.5% 95CI 0.1-8.0), carcinoid syndrome with tricuspid regurgitation (n=1, 1.5% 95CI 0.1-8.0), a right atrium pace-maker lead (n=1, 1.5% 95CI 0.1-8.0) and a takotsubo syndrome (n=1, 1.5% 95CI 0.1-8.0). Conclusion Aortic aneurysm and pneumonectomy are the most frequent and well known situation leading to a POS. Other causes less known were observed such as hepato-renal polycystic kidney, or atrial pacemaker probe that may be underdiagnosed in clinical practice.

Introduction L’inactivite physique a un impact important sur l’etat de sante des patients atteints de mucoviscidose. Le but de cette etude est d’evaluer, chez des patients atteints de mucoviscidose, l’interet de questionnaire comme le score d’activite physique de Dijon et l’autoquestionnaire de Baecke deja valides chez des sujets sains comme outils d’evaluation de l’activite. Patients et methodes Les patients remplissaient les deux questionnaires lors d’une hospitalisation de jour. Il etait egalement realise des epreuves fonctionnelles respiratoires de repos (VEMS, CV, VRE) et des tests d’effort (VO 2max et test de marche des 6 minutes) Resultats Vingt-deux patients atteints de mucoviscidose, 13 hommes et 9 femmes avec un âge moyen de 32,7 ans (± 7,9), en etat stable ont ete inclus dans l’etude. On retrouvait une correlation statistiquement significative entre le score d’activite physique de Dijon et la VO 2max (rho = 0,49, p 2max . Aucune correlation n’etait retrouvee entre les parametres ventilatoires de repos et les scores des questionnaires d’activite physique. Conclusion Le score d’activite de Dijon pourrait etre un outil simple et pertinent pour evaluer l’activite physique chez les patients atteints de mucoviscidose.

La maladie de depots de chaines legeres (LCDD) kystique pulmonaire est une entite rare decrite chez des patients transplantes pulmonaires pour une insuffisance respiratoire rapidement progressive. Contrairement a la LCDD systemique, aucune hemopathie maligne associee n’avait ete mise en evidence. Nous rapportons le seul cas d’une patiente de 37 ans atteinte d’une LCDD pulmonaire kystique et bronchectasique revelant un lymphome extrapulmonaire lymphoplasmocytaire et les resultats du traitement du lymphome par greffe autologue de cellules souches hematopoietiques sur l’evolution de la LCDD. En limitant la production de chaines legeres libres seriques et la toxicite des depots sur le poumon, ce traitement a stabilise l’etat respiratoire de la patiente ( Fig. 1 ).

Platypnea orthodeoxia syndrome (POS) is a rare condition with right to left shunting through a Patent Foramen Ovale (PFO) that results in oxygen desaturation during postural changes. Few series are available on the functional status after PFO closure. The aim of our study was to describe the impact of PFO closure in this population. Methods We retrospectively included 24 consecutive patients with dyspnea related to POS, aged 73.6±9.6 years old (min 52, max 86, 62.5% male) who were referred for PFO closure between Oct. 2006 and july 2011 in the Toulouse Rangueil universitary hospital. Follow-up data were available in May 2012. Results At baseline, all patients had dyspnea (58.3% NYHA 4). Eight patients (33.3%) had a history of stroke attack. POS was related to right pneumonectomy in 3 patients (12.5%), ascending aortic ectasy in 11 patients (45.8%), hepato-renal polycystic disease in 2 patients (8.3%). Aneurysm of the inter-atrial septum was observed in 12 patients (50%). PaO2 was lower in erect position compared to recumbent position (50.4±6.8 versus 72.6±12.5 mmHg, p=0.0005). Closure of the PFO was performed percutaneously in 24 patients (100%). An additional surgical PFO closure was necessary in 1 patient because of significant residual shunting. PaO2 in erect position was significantly increased after closure (p=0.0254). During follow-up, 4 patients (16.7%, p=0.125) had a complete relief of their symptoms after closure. Dyspnea was significantly improved according to NYHA functional class (p=0.023). General status improved in 75% patients (p=0.025). Eight patients died (33.3%). Four deaths (50%) were related to stroke attacks at respectively 18 days, 3,11 and 39 months after PFO closure. Four deaths were not related to cardiac issue. Conclusion Patients referred for PFO closure for POS are old and at high risk of mortality, particularly from stroke attacks. PFO closure is associated with an improvement of the functional NYHA class and of the general status.