Dyspnea assessment in myotonic dystrophy type 1.

In myotonic mystrophy type 1 (DM1), combining respiratory symptom screening and respiratory function testing, is crucial to identify the appropriate time for ventilatory support initiation. Dyspnea has been little investigated in DM1. To provide a multidimensional description of dyspnea, questionnaires assessing dyspnea were administered to 34 consecutive adult patients with DM1 (median (25th-75th centile) age of 36 (28-49), Vital Capacity (VC) of 74 (64-87)% of predicted value). Dyspnea scores were low whatever the questionnaire used: Multidimensional Dyspnea Profile score of 2(0-4.7)/50 for dyspnea sensory descriptor and of 0 (0-4.7)/60 for the emotional descriptor, Visual Analogue Scale score of 0 (0-0)/10 in sitting and supine position and Borg score after six-minute walk test (6MWT) of 2.2 (1.8-4.2)/10. Eleven patients (32%) reported disabling dyspnea in daily living (modified Medical Research Council (mMRC) score ≥ 2). In comparison with patients with mMRC score < 2, patients with mMRC score ≥ 2 had a more severe motor handicap (Muscular Impairment Rating score of 4.0 (4.0-4.0) vs 3.0 (2.0-3.5), p<0.01), a lower 6MWT distance (373 (260-424) vs 436 (346-499)m, p = 0.03) and a lower VC (64 (48-74)% vs 75 (69-89)%, p = 0.02). These data suggest that the mMRC scale might be an easy-to-use and useful tool to assess dyspnea in daily living in DM1 patients. However, the interest of integrating the mMRC dyspnea scale in clinical practice to guide therapeutic management of DM1 patients remains to be assessed in further studies.

[Treatment of GERD in asthma]. / Traitement du reflux gastro-œsophagien dans l'asthme.

Gastro-oesophageal reflux disease (GORD) is one of the most frequent conditions associated with asthma. GORD has an impact on asthma control and quality of life of asthmatic patients. Its treatment relies on lifestyle modifications, anti-acidic treatment with proton pump inhibitors (PPI) and/or surgical management by fundoplication in some situations. The impact of lifestyle modifications has not been analysed on asthma outcomes alone. Several randomised controlled trials assessed the efficacy of PPI on asthma control, peak expiratory flow and/or quality of life. The impact of fundoplication in asthma has mainly been analysed in retrospective or prospective observational studies. This review highlights the limited impact of GORD treatment on asthma control. Current guidelines are to restrict GORD treatment in asthma to asthmatic patients with actual symptomatic GORD. Given the lack of controlled studies, the place of surgical management of GORD in asthma is currently not defined.

[A case of multifocal cavernous haemangiomas of the lung, spleen and bone]. / Hémangiomatose multifocale bronchique, ganglionnaire, splénique et osseuse.

INTRODUCTION: Haemangiomas are vascular malformations, frequently cutaneous, hepatic and splenic. Respiratory involvement and multiple localisations are uncommon. CASE REPORT: We present a rare case of multiple cavernous haemangiomas in a 35 year old woman presenting with repeated haemoptysis. Thoracic CT scanning showed a mass in the left lower lobe associated with lymph node enlargement above and below the diaphragm, heterogeneous splenomegaly and a single spinal lesion without hypermetabolism on PET scanning. Enbronchial ultrasound-guided trans-bronchial needle aspiration was not contributory. Histopathological diagnostic was made firstly by splenectomy with lumbar-aortic curettage and then by lobectomy for haemostasis. A final diagnosis of multiple cavernous haemangiomas involving lung, lymph nodes, spleen and bone was made. CONCLUSIONS: Bronchopulmonary cavernous haemangiomas associated with extra-thoracic lesions are exceptionally rare and their presentation, suggesting, a malignant cause, often leads to surgical resection for diagnostic and, eventually, therapeutic management. We report an original case of cavernous haemangiomas involving lung, lymph nodes, spleen and bone.

[Obesity and asthma: Mechanisms and therapeutic options]. / Asthme et obésité : mécanismes et pistes thérapeutiques.

Asthma and obesity are both common conditions, which lead to a substantial public health burden. The obese-asthma phenotype is characterized by poor asthma control, impaired lung function and decreased efficacy of inhaled treatment. However, this phenotype is highly heterogeneous and involves numerous mechanisms, including systemic inflammation and adipokines. A role for microbiota modifications and genetics has been suggested. Obese-asthma patient management currently consists in weight loss and usual anti-asthmatic treatment. New therapeutic options are being evaluated.

Management of acute exacerbations of chronic obstructive pulmonary disease (COPD). Guidelines from the Société de pneumologie de langue française (summary).

Chronic obstructive pulmonary disease (COPD) is the chronic respiratory disease with the most important burden on public health in terms of morbidity, mortality and health costs. For patients, COPD is a major source of disability because of dyspnea, restriction in daily activities, exacerbation, risk of chronic respiratory failure and extra-respiratory systemic organ disorders. The previous French Language Respiratory Society (SPLF) guidelines on COPD exacerbations were published in 2003. Using the GRADE methodology, the present document reviews the current knowledge on COPD exacerbation through 4 specific outlines: (1) epidemiology, (2) clinical evaluation, (3) therapeutic management and (4) prevention. Specific aspects of outpatients and inpatients care are discussed, especially regarding assessment of exacerbation severity and pharmacological approach.

Squamous cell carcinoma of the lung associated with anti-Jo1 antisynthetase syndrome: a case report and review of the literature.

Antisynthetase syndrome is a heterogeneous idiopathic inflammatory myopathy. Anti-Jo1 is the most common antibody found in this condition. Dermatomyositis is known to be associated with malignancy, but the association between antisynthetase syndrome and malignancy is not clearly established. We report a case of an association of squamous cell carcinoma of the lung and anti-Jo1 antisynthetase syndrome. A 67-year-old man presented with polyarthritis, muscle weakness of the pelvic girdle, "mechanic's hands," and weight loss. A diagnosis of antisynthetase syndrome was considered based on the clinical features and the presence of anti-Jo1 antibodies. Positron emission tomography was performed because of weight loss and revealed a pulmonary hypermetabolic lesion. Histological findings revealed squamous cell carcinoma. The patient underwent lobectomy and is currently free of symptoms with regular monitoring. This unusual presentation of squamous cell carcinoma of the lung illustrates the need of a systematic approach to the diagnosis of antisynthetase syndrome. Positron emission tomography can be a useful imaging modality in the diagnosis of paraneoplastic syndromes associated with antisynthetase syndrome especially in the presence of warning signs/symptoms.

Management of acute exacerbations of chronic obstructive pulmonary disease (COPD). Guidelines from the Société de pneumologie de langue française / Prise en charge des exacerbations de la bronchopneumopathie chronique obstructive (BPCO). Recommandations de la Société de pneumologie de langue française

Chronic obstructive pulmonary disease (COPD) is the chronic respiratory disease with the most important burden on public health in terms of morbidity, mortality and health costs. For patients, COPD is a major source of disability because of dyspnea, restriction in daily activities, exacerbation, risk of chronic respiratory failure and extra-respiratory systemic organ disorders. The previous French Language Respiratory Society (SPLF) guidelines on COPD exacerbations were published in 2003. Using the GRADE methodology, the present document reviews the current knowledge on COPD exacerbation through 4 specific outlines: (1) epidemiology, (2) clinical evaluation, (3) therapeutic management and (4) prevention. Specific aspects of outpatients and inpatients care are discussed, especially regarding assessment of exacerbation severity and pharmacological approach.(AU)

La bronchopneumopathie chronique obstructive (BPCO) est la maladie respiratoire chronique dont le poids sur la santé publique est le plus grand par sa morbidité, sa mortalité et les dépenses de santé qu'elle induit. Pour les individus atteints, la BPCO est une source majeure de handicap du fait de la dyspnée, de la limitation d'activité, des exacerbations, du risque d'insuffisance respiratoire chronique et des manifestations extra-respiratoires qu'elle entraîne. Les précédentes recommandations de la Société de pneumologie de langue française (SPLF) sur la prise en charge des exacerbations BPCO date de 2003. Se fondant sur une méthodologie adaptée de GRADE, le présent document propose une actualisation de la question des exacerbations de BPCO en développant un argumentaire couvrant quatre champs d'investigation : (1) épidémiologie, (2) évaluation clinique, (3) prise en charge thérapeutique et (4) prévention. Les modalités spécifiques de la prise en charge hospitalière et ambulatoire y sont discutées, particulièrement les aspects relevant de l'évaluation de la sévérité de l'exacerbation et de la prise en charge pharmacologique.(AU)

[Systemic lupus erythematosus presenting as severe alveolar hypoventilation and the shrinking lung syndrome]. / Hypoventilation alvéolaire sévère révélant un shrinking lung syndrome lupique.

INTRODUCTION: The shrinking lung syndrome (SLS) is a rare complication of systemic lupus erythematosus. CASE REPORT: A 69-year-old man presented with exertional dyspnoea, muscle weakness, and weight loss of 15kg in 6months. Pulmonary function tests revealed a restrictive lung disorder, with a dramatic decrease in maximal inspiratory pressure (17% of theoretical value), and alveolar hypoventilation (pH 7.43; PaCO2 55mmHg). A thoracic CT-scan showed bilateral diaphragmatic elevation. The creatinine phophokinase level was increased at 280U/L. Progress was marked by a rapidly increasing respiratory acidosis (pH 7.24, PaCO2 109mmHg) requiring invasive ventilation. Auto-immune studies revealed positive anti-nuclear antibodies (1/800) and positive anti-native DNA antibody at 45U/L. Treatment with systemic corticosteroids led to an initial improvement but it was not possible to discontinue mechanical ventilation. The outcome was fatal. Autopsy did not reveal any other cause and a diagnosis of the SLS associated with lupus was confirmed. CONCLUSION: The interesting features of this case report consist of: 1) the presentation of the SLS as an alveolar hypoventilation with a fatal outcome, 2) the presentation of systemic lupus as SLS.

[Omalizumab: Beyond anti-IgE properties]. / Mécanismes d'action de l'omalizumab : au-delà de l'action anti-IgE.

INTRODUCTION: Omalizumab is used as a treatment for severe allergic asthma. Its intended mechanism of action is based on its anti-IgE proprieties. However, recent studies have highlighted other mechanisms of action. STATE OF THE ART: Omalizumab treatment is associated with a decrease in the number of dendritic cells, T and B lymphocytes and eosinophils. This anti-inflammatory activity is characterized by a decrease in the levels of several cytokines involved in the recruitment, activation and survival of eosinophils and mastocytes, and in a Th2 orientation of the immune response. A modulation of bronchial remodeling by omalizumab has recently been shown. A decrease in the production of extracellular matrix components and in the proliferation of smooth muscle cells could be involved in this modulation. These mechanisms of action could explain in part the clinical efficiency of omalizumab in non-allergic conditions such as non-allergic asthma, non-allergic urticaria or nasal polyposis. CONCLUSION: A precise knowledge of the mechanisms of action of omalizumab could allow the identification of biomarkers predictive of efficacy of this treatment. These could be useful tools in the phenotyping of severe asthma.

Cross-reactivity to fish and chicken meat - a new clinical syndrome.

BACKGROUND: Fish is one of the most allergenic foods. While clinical cross-reactivity among different fishes is a widely accepted feature of fish allergy, associations with other food allergies are not well understood. This study aims at analyzing the relevance of clinical cross-reactivity between fish and chicken meat in patients with allergy to chicken meat without sensitization to hen's eggs. METHODS: Patients with food allergy to fish and chicken meat (n = 29) or chicken meat only (n = 7) were recruited. IgE-reactive chicken proteins were identified (Edman, MS analysis) and quantified (ELISA). Allergens were used in IgE ELISA and skin testing. RESULTS: Chicken parvalbumin and two new allergens, aldolase and enolase, were identified at 12, 40, and 50 kDa, respectively. They were recognized by sIgE of 61%, 75%, and 83% of all patient sera which were in the majority of the cases positive for the fish homologues as well. Fish and chicken meat allergens were highly cross-reactive while high inhibition rates with fish or chicken allergens correlated with the patients' primary sensitization to fish or chicken. In cooked or roasted foods, enolase and aldolase were detectable in chicken breast while parvalbumin was detectable in chicken legs and wings. CONCLUSIONS: Fish and chicken meat are cross-reactive foods; both fish-allergic and chicken meat-allergic patients might be at risk of developing a food allergy to chicken meat or to fish, respectively. This clinical phenomenon is proposed to be termed 'fish-chicken syndrome' with cross-reactive allergens involved being parvalbumins, enolases, and aldolases.

Work-related respiratory symptoms in Champagne vineyard workers.

BACKGROUND: Vineyard workers (VW) are exposed to various respiratory allergens. The aims of the study were to determine the prevalence of work related respiratory symptoms (WRS) in Champagne VW in France and to analyze the relationships between symptoms, occupational exposure and sensitization profile. METHODS: VW of Reims area were prospectively recruited between 2007 and 2010. Demographic and occupational characteristics were recorded. Respiratory symptoms were scored for each month of the past year. Results of respiratory functional tests and skin prick tests for common respiratory allergens, grape moulds and vine pollen were recorded. RESULTS: 307 subjects were included. The prevalence of WRS was 11%. Compared to subjects with symptoms unrelated to work, subjects with WRS were more frequently sensitized to gramineae (34% vs 18%, p = 0.05), described ocular itching (74% vs 37%, p < 0.001) and seasonal symptoms (88% vs 69%, p = 0.03) mainly during lifting and trellising (57% vs 17%, p < 0.001). CONCLUSION: WRS are frequent in Champagne WV and are associated with a sensitization to gramineae and with activities performed close to vine in late spring.

[Eosinophilic pleuritic: An unusual complication of treatment with an angiotensin converting enzyme inhibitor]. / Pleurésie à éosinophiles: une complication rare d'un traitement par inhibiteur de l'enzyme de conversion de l'angiotensine.

BACKGROUND: Eosinophilic pleural effusions are defined by an eosinophil count ≥10% in pleural fluid and represent approximately 10% of exudative pleural effusions. OBSERVATION: We report the first case of eosinophilic pleural effusion occurring due to lisinopril treatment. Improvement after drug discontinuation and recurrence after reintroduction indicated that lisinopril was responsible for the effusion. CONCLUSION: The main causes of eosinophilic pleural effusions are infections including tuberculosis, and malignancies. Drug-induced eosinophilic pleural effusions have only rarely been described, mainly caused by cardiovascular or neuropsychiatric medicines.

A competitive enzyme-linked immunosorbent assay for quantification of tetrastatin in body fluids and tumor extracts.

Basement membrane collagens or derived fragments are measured in biological fluids such as blood and urine of patients and appear to be useful for diagnosis, prognostication, or treatment monitoring as proposed for endostatin, a fragment of collagen XVIII, or tumstatin, a fragment of collagen IV. Tetrastatin, the NC1 alpha 4 collagen IV domain, was previously reported to inhibit tumor growth and angiogenesis. The aim of this study was to develop and validate a method to measure tetrastatin concentrations in human fluids. We developed a competitive enzyme-linked immunosorbent assay (ELISA). It allowed measuring tetrastatin levels in human serum, bronchial aspiration and bronchoalveolar lavage fluids, and lung tissue extracts. The tetrastatin level was significantly higher in tumor tissues than in healthy lung tissues. Tetrastatin competitive ELISA could be useful to quantify tetrastatin in tissues and biological fluids for the diagnosis or prognostication of diseases in which basement membrane metabolism may be altered, especially tumor progression.

[Post-infectious autobullectomy]. / Autobullectomie post-infectieuse.

INTRODUCTION: Bullous emphysema is defined as an airspace of more than 10mm in diameter. The spontaneous regression or disappearance of a bulla is unusual, described as an "autobullectomy". CASE REPORT: We report the case of a 37-year-old man with a 10-pack/year history of smoking, a history of pneumothorax surgically treated in 2005, and emphysema with a bulla in the right upper lobe. In September 2010, the patient was hospitalized for a community-acquired pneumonia associated with an air-fluid level in the bulla. Clinical symptoms improved with a course of antibiotics (levofloxacin, ceftriaxone) for 3 weeks. Chest X-rays showed a progressive decrease in the size of the bulla. In June 2011, a chest CT scan showed complete regression of the bulla in the right upper lobe. CONCLUSIONS: We report the complete regression of a bulla after infection, leading to an "autobullectomy". It can be hypothesized that the mechanisms might involve fibrosis of the walls and/or the obstruction of the bronchus supplying the bulla.

[Regeneration of airway epithelium]. / Régénération de l'épithélium des voies aériennes.

INTRODUCTION: Epithelial regeneration is a complex process. It can lead to the remodeling of the airway epithelium as in asthma, COPD or cystic fibrosis. BACKGROUND: The development of in vivo and in vitro models has allowed the analysis of remodeling mechanisms and showed the role of components of extracellular matrix, proteases, cytokines and growth factors. Airway epithelial progenitors and stems cells have been studied in these models. However, their identification remains difficult. CONCLUSION: Identification and characterization of airway epithelial progenitor/stem-cells, and a better knowledge of the regeneration process may allow the development of new therapeutic strategies for airway epithelial reconstitution.

[Birch pollen allergy]. / Allergie au pollen de bouleau.

In the North-East of France, birch is the main tree responsible of spring pollen allergy. However, the epidemiology of sensitization to birch pollen remains unclear. Monosensitization to birch pollen seems rare because of the frequency of cross-reactions with other pollens of the same botanical family via the major allergen Bet v 1. Around one third of patients with allergic rhinoconjunctivitis due to birch pollen are also asthmatics and a half suffer from a food allergy, essentially an oral syndrome due to rosaceae fruits eaten raw. The molecular allergens of birch pollen are well-known and have been cloned. They are available for use in in vitro diagnostic tests and also in clinical trials of specific immunotherapy.

[The Proteus syndrome: a rare cause of pulmonary emphysema]. / Le syndrome de Protée : une cause exceptionnelle d'emphysème pulmonaire.

INTRODUCTION: The Proteus syndrome is a rare genetic disease which is characterized by the overgrowth of tissues, especially bone, connective and adipose tissue. This condition is related to a somatic mosaic activating mutation in the AKT1 oncogene. CASE REPORT: We report the case of a 25-year-old man, diagnosed with the Proteus syndrome at the age of 6 months. He exhibited an asymmetric overgrowth of the extremities leading to bilateral amputation of the legs at the age of 10 years. He was hospitalized for acute respiratory failure due to a bronchopulmonary infection. Severe bullous pulmonary emphysema, predominantly on the left, with mediastinal deviation, was diagnosed. The patient recovered with antibiotics. An assessment 2 months later revealed mild hypoxaemia (PaO2=75 mmHg) and severe airflow limitation (FEV1=1260 mL [28% th.], FEV1/V C=69%) with hyperinflation (TLC=7840 mL [107% th.], RV=6010 mL [253% th.]). CONCLUSION: The Proteus syndrome is a very rare cause of pulmonary emphysema. The pathophysiology of emphysema in this syndrome is unknown. It can be hypothesized that the development of pulmonary cysts leading to emphysema may share the same AKT1 activation pathway with lymphangioleiomyomatosis.