[Feasibility and benefits of training to screen for chronic obstructive pulmonary disease]. / Faisabilité et bénéfices de la formation au dépistage du trouble ventilatoire obstructif.

INTRODUCTION: Though still under-diagnosed, chronic obstructive pulmonary disease (COPD) currently affects nearly 3.5 million people in France. The present study presents the results of continuing medical education sessions on COPD screening by electronic mini-spirometry. METHODS: From April 2013 to December 2015, the sessions involved 73 health professionals. The study analysed three questionnaires administered before, after, and long after sessions led by experts within a professional associative network. RESULTS: The sessions proved efficient in increasing the participants' theoretical knowledge. It increased the percentage of correct answers regarding the nature of COPD (90 % vs. 81%), the functions, features, and outputs of mini-spirometers, and the treatment recommendations. The sessions led to non-negligible changes in everyday medical practice regarding the acquisition of a mini-spirometer (+13 devices), the presentation of COPD to the patients (+33 practitioners), the dialogue on tobacco use (+32 practitioners), vaccination (+33 practitioners), and compliance with the treatment recommendations (+43 practitioners). CONCLUSION: These results encourage both holding and following up such sessions. The specialized professional environment ensures knowledge updates and offers subsequent assistance. Further improving these sessions will increase their benefits in terms of diagnosis, treatment, and health economy.

Benefit of continuous positive airway pressure on work quality in patients with severe obstructive sleep apnea.

BACKGROUND: The objective of this prospective study was to assess the effect of CPAP therapy on job productivity and work quality for patients with severe obstructive sleep apnea (OSA). METHODS: A convenience sample of patients diagnosed with severe OSA using polysomnography or polygraphy and with a therapeutic indication for CPAP was enrolled in our study. Patients completed two self-administered questionnaires: the first before CPAP therapy and the second during the first 6 months after CPAP treatment. OSA symptoms were evaluated through self-administered questionnaires assessing potential effects on occupational activity: excessive daytime sleepiness was rated by the Epworth Sleepiness Scale (ESS), emotional status was rated by the Hospital Anxiety and Depression (HAD) scale, work quality was rated by the Work Role Functioning Questionnaire (WRFQ). RESULTS: Forty patients (30 men, mean age 47.3 ± 8.3, mean BMI 31.6 ± 7.4, mean apnea-hypopnea index 51.8 ± 16.3) showed a beneficial effect of CPAP therapy on ESS score (mean 11.6 to 8.2, p < 0.0001), the anxiety dimension (mean 57.5% to 20%, p = 0.0002), and the overall anxiety-depressive score (mean 50% to 22.5%, p = 0.0006). Mean WRFQ scores were significantly improved in the second questionnaire for the dimensions of timetable requirements (69.3% to 83.5%, p < 0.0001), productivity requirements (71.4% to 82.2%, p < 0.0001), mental requirements (72.0% to 84.3%, p < 0.0001), and social requirements (82.6% to 91.4%, p < 0.003). CONCLUSIONS: We observed that adherence to CPAP therapy for patients with severe OSA mitigates the impact of symptoms on work including excessive daytime sleepiness, impairment of work ability, and anxiety and depressive disorders.

[An atypical case of necrotizing staphylococcal pneumonia]. / Un cas atypique de pneumopathie nécrosante staphylococcique !

INTRODUCTION: Some strains of Staphylococcus aureus produce a toxin known as Panton-Valentine leukocidin. These strains notably cause a necrotizing pneumonia which is associated with a high mortality. OBSERVATION: A 70-year-old woman presented with sub-acute onset dyspnea, low-grade fever, and hemoptysis after a trip to Dubai and New Zealand. Computed tomography showed bilateral necrotizing pneumonia, suggesting the diagnosis of pneumonia caused by S. aureus producing Panton-Valentine toxin. It was confirmed by microbiological investigation. The rapid initiation of adequate antimicrobial therapy including an effective antitoxin was essential for successful treatment, without the need for ventilatory support. CONCLUSION: Necrotizing pneumonia caused by S. aureus producing Panton-Valentine leukocidin usually occurs in young subjects without comorbidities. Typical symptoms are a combination of hypoxemia, high fever, hemoptysis, leukopenia, and a rapidly worsening condition. Panton-Valentine leukocidin should not be discarded if not all the symptoms are typical. Antibiotic therapy including an antitoxin drug such as linezolid or clindamycin should be initiated promptly.

[Patient's course requiring NIPPV in Centre Hospitalier Lyon-Sud]. / Le parcours du patient nécessitant une VNI au centre hospitalier Lyon-Sud.

Non-invasive positive pressure ventilation (NIPPV) has become a major therapeutic of acute respiratory failure. Thanks to technical progress, its use has become widespread in intensive care units and now in emergency and pneumology departments, for indications recognized and validated as decompensation of chronic obstructive pulmonary disease and acute cardiogenic pulmonary edema. Patients with this conditions transit in the hospital, from the emergency or pulmonology departments, sometimes through intensive care units. Knowledge of the NIPPV, its indications, contraindications, terms of use and surveillance requires trained teams. This training covers not only the technical but also the hardware, multiple ventilation modes, and interfaces. Other indications being evaluated, such as ventilation in the perioperative period, also require coordination between different actors. The establishment of a specific group of thinking and working around the NIPPV is clearly needed, allowing teams of hospital (emergency department, intensive care unit, pulmonology, anesthesia) to work together. This work deals with different areas: training, equipment, condition of receiving patients in the different services within the constraints of personnel and equipment. In this article, we trace the point of view of each of the professionals in this group and some of the actions implemented.

[COPD: An early disease]. / La BPCO : une maladie qui commence précocement.

This general review deals with the mechanisms which underlie the genetic factors in COPD. Many cellular and biochemical mechanisms occur in bronchial inflammation. We present the experimental models of COPD, insisting on the importance of oxydative stress, and on recent knowledge about the lung microbiome. Starting from this pathophysiology basis, we show how various genetic targets are able to interfere with the disease model. Thanks to these genetic targets, new markers in exhaled breath condensates and new drug targets are rising.

[Aspirin hypersensitivity: characteristics and diagnostic approach]. / Intolérance à l'aspirine : caractéristiques et éléments diagnostiques.

INTRODUCTION: In routine medical practice, the diagnosis of aspirin hypersensitivity (AH) remains difficult. No clinical feature or biomarker is available to reliably confirm this diagnosis and oral provocation tests (OPT) are rarely performed. AIM: To compare asthmatics with and without AH. METHOD: The clinical characteristics of 21 asthmatics with and 24 without AH respectively were determined. AH was defined by a positive OPT. A full blood count was done before and 24 hours after the OPT. RESULTS: The medical history was associated with a weak sensitivity (52%) and a good specificity (96%) for assessing the diagnosis of AH. There was a higher prevalence of AH in women, and a higher frequency of allergic rhinitis in AH, but no characteristic was useful to facilitate the diagnosis of AH in asthmatic patients. Our results demonstrate higher values of platelets in AH patients. Following OPT, in AH patients only, a decrease in blood eosinophils and an increase in neutrophils was observed. CONCLUSIONS: These results confirm that the diagnosis of AH is challenging, with the history having only weak sensitivity. The observation that fluctuations in eosinophils and neutrophils occur following OPT in AH patients only warrants further investigations and suggests a rapid pro-inflammatory role for aspirin.

Management of emerging multidrug-resistant tuberculosis in a low-prevalence setting.

Multidrug-resistant (MDR) tuberculosis (TB) is an emerging concern in communities with a low TB prevalence and a high standard of public health. Twenty-three consecutive adult MDR TB patients who were treated at our institution between 2007 and 2013 were reviewed for demographic characteristics and anti-TB treatment management, which included surgical procedures and long-term patient follow-up. This report of our experience emphasizes the need for an individualized approach as MDR TB brings mycobacterial disease management to a higher level of expertise, and for a balance to be found between international current guidelines and patient-tailored treatment strategies.

Cryptococcosis in sarcoidosis: cryptOsarc, a comparative study of 18 cases.

AIM: To describe the main characteristics and the treatment of cryptococcosis in patients with sarcoidosis. DESIGN: Multicenter study including all patients notified at the French National Reference Center for Invasive Mycoses and Antifungals. METHODS: Retrospective chart review. Each case was compared with two controls without opportunistic infections. RESULTS: Eighteen cases of cryptococcosis complicating sarcoidosis were analyzed (13 men and 5 women). With 2749 cases of cryptococcosis registered in France during the inclusion period of this study, sarcoidosis accounted for 0.6% of all the cryptococcosis patients and for 2.9% of the cryptococcosis HIV-seronegative patients. Cryptococcosis and sarcoidosis were diagnosed concomitantly in four cases; while sarcoidosis was previously known in 14/18 patients, including 12 patients (67%) treated with steroids. The median rate of CD4 T cells was 145 per mm(3) (range: 55-1300) and not related to steroid treatment. Thirteen patients had cryptococcal meningitis (72%), three osteoarticular (17%) and four disseminated infections (22%). Sixteen patients (89%) presented a complete response to antifungal therapy. After a mean follow-up of 6 years, no death was attributable to cryptococcosis. Extra-thoracic sarcoidosis and steroids were independent risk factors of cryptococcosis in a logistic regression model adjusted with the sex of the patients. CONCLUSIONS: Cryptococcosis is a significant opportunistic infection during extra-thoracic sarcoidosis, which occurs in one-third of the cases in patients without any treatment; it is not associated to severe CD4 lymphocytopenia and has a good prognosis.

[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome]. / Pneumothorax itératifs et spontanés révélant un syndrome de Birt-Hogg-Dubé.

The Birt-Hogg-Dubé (BHD) syndrome is associated with cutaneous disorders including fibrofolliculomas and trichodiscomas, and also lung pneumatocysts and kidney tumours. The BHD syndrome occurs as a consequence of an autosomal dominantly inherited genodermatosis, linked to multiple germline mutations in the 14 exons of the BHD gene, mapped on 17p11.2 and encoding for folliculin (FLCN). The size and number of lung pneumatocysts are extremely variable and the cysts are surrounded by normal pulmonary tissue. In the absence of smoking lung function is usually unimpaired. The lung cysts are frequently complicated by the development of recurrent pneumothoraces. Treatment of pneumothorax in patients with the BHD syndrome is similar to the approach taken for patients with spontaneous pneumothorax. Lung cysts in the BHD syndrome are a rare cause of cystic pulmonary lesions. However, they must be systematically evaluated since kidney tumours occur in one third of patients. We report a case of classical BHD syndrome with specific cutaneous involvement, recurrent pneumothoraces complicating lung cysts, an exon 12 germline mutation on BHD gene and a familial history suggesting other related cases. This observation allows us to update this orphan disease, to consider BHD in the differential diagnosis of lung cysts and, above all, to highlight the high frequency and the prognostic significance of associated kidney tumours.

Infiltrative lung diseases in pregnancy.

Pregnancy may affect the diagnosis, management, and outcome of infiltrative lung disease (ILD). Conversely, ILD may affect pregnancy. ILD may occur as a result of drugs administered commonly or specifically during pregnancy. Most ILDs predominate in patients older than 40 years and are thus rare in pregnant women. During pregnancy ILD may arise de novo and preexisting ILD may be exacerbated or significantly worsened. Some ILDs generally do not alter the management of pregnancy, labor, or delivery. Preexisting ILD no longer contraindicates pregnancy systematically, but thorough evaluation of ILD before pregnancy is required to identify potential contraindications and adapt monitoring.

[Assessment of prognostic factors of thoracic synovial sarcoma]. / Evaluation des facteurs pronostiques du synovialosarcome thoracique.

INTRODUCTION: Synovial sarcoma is an uncommon tumour and thoracic involvement is rare and of varying location. Clinical characteristics are dominated by pain, with a slow progression over years. Pathological and immuno-histochemical characteristics are helpful in the diagnosis but a specific translocation between chromosomes X and 18 is crucial for confirmation. Extensive surgical resection is required for cure, combined with adjuvant radiotherapy in the presence of adverse prognostic factors. CASE REPORT: We report a case of synovial sarcoma of the chest wall, responsible for chronic local pain for several years, presenting as an acute pleuropneumonitis in a 21-year-old patient. In view of the large size of the tumour, associated with a high proliferation index (Ki-67), a surgical resection was performed, together with local adjuvant radiotherapy. CONCLUSION: This case report reviews synovial sarcoma and underlines the difficulties and requirements of both diagnostic strategy and therapeutic management. Among them, an initial systematic review of prognostic factors (tumour size, mitotic activity, proliferation index, SYT-SSX type fusion, histological grade) is crucial to determine the therapeutic options.

[Lung abscess due to community acquired Klebsiella pneumonia]. / Pneumopathie communautaire abcédée à Klebsiella pneumoniae.

INTRODUCTION: In western countries, community-acquired pneumonias due to Klebsiella pneumoniae (Kp) are rare and associated with a poor prognosis and a high mortality. The severity is in part linked to the virulence of Kp. Immuno-depression, sepsis and visceral abscesses are frequently found, constituting other classical risk factors for severity and contributing to the poor prognosis. The therapeutic strategy is based on third generation cephalosporins, aminoglycosides and quinolones. CASE REPORT: We report the case of a young adult, with undiagnosed diabetes, hospitalized as an emergency for septic shock complicating a community-acquired pneumonia due to Kp and associated with multiple brain and lung abscesses. After several weeks of treatment, initially with empirical then specific antibiotics, a favourable outcome was obtained. CONCLUSION: This case report underlines the particular severity of infections due to Kp and their main pathophysiological mechanisms. It is also an opportunity to highlight the potential responsibility of Kp in the presence of a pneumonia with lung abscesses and finally to update the principles of antibiotic therapy.

Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.

RATIONALE: Despite extensive studies, the pathogenesis of sarcoidosis is largely unknown. Although multiple environmental and putative infectious agents have been proposed, none was retained as a major contributor to the disease occurrence. Genetic predisposition to sarcoidosis was considered as a significant factor and numerous candidate genes have been reviewed. This last point was reinforced since the discovery of a pathogenic polymorphism (rs2076530 or G > A) of the BTNL2 gene, leading to an early truncation of the protein, which increases the relative risk of the disease. BTNL2 is known to act as a co-stimulatory molecule, inducing a negative signal to T-lymphocyte activation and the mutated gene is responsible for a truncated protein and disruption of membrane localization. OBJECTIVES: Our work attempted to confirm this observation in a highly penetrant familial form of sarcoidosis. RESULTS: In this family, the disease was diagnosed in 5 members through 3 generations. Despite individual clinical specificities, all displayed severe forms of the disease. Peripheral blood samples were collected from 3 patients and 2 additional healthy children of the fourth generation. Analysis of the BTNL2 gene confirmed the presence of the pathogenic variant of BTNL2 on both alleles (A/A homozygous genotype) in all subjects tested. CONCLUSIONS: Our data suggest that the absence of a membrane anchored BTNL2 protein may increase genetic susceptibility to sarcoidosis and familial occurrence of the disease. This observation assessed the putative pathogenic involvement of the rs2076530 variant of BTNL2 in the development of this granulomatosis disease.

[Pneumomediastinum, giant subcutaneous emphysema and pneumoperitoneum revealed by jaw pain. Uncommon physiopathology of pneumomediastinum]. / Pneumomédiastin, emphysème sous-cutané géant et pneumopéritoine d'origine dentaire Physiopathologie inhabituelle d'un pneumomédiastin.

INTRODUCTION: Spontaneous pneumomediastinum is a rare entity, predominantly described in young man. The association of acute dyspnea, chest pains and subcutaneous emphysema is usually reported. CASE REPORT: We report the observation of a pneumomediastinum, fortuitously discovered in front of an isolated giant subcutaneous emphysema in a 59 year old man. The recent clinical history was only marked by the presence of intense and acute dental pains. Associated with a pneumoperitoneum, a retro-pneumoperitoneum, this clinical presentation is uncommon and differs from previous published case reports. Despite a complete evaluation of classical risk factors, its origin remains uncertain. However, the presence of huge dental injuries led to consider such local origin, facilitating air diffusion. CONCLUSION: This case report allows to reconsider spontaneous pneumomediastinum entity and to propose additional physiopathological mechanisms. This original description underlines the interest to systematically perform dental examination in the presence of unexplained pneumomediastinum.

[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. / Le syndrome de Whim: une cause exceptionnelle de bronchiectasies diffuses.

Whim syndrome, an association of warts, hypogammaglobulinemia, recurrent bacterial infections and the retention of mature polymorphonuclear cells within the bone marrow is an orphan disease. It occurs due to a complex immune defect, mutation and/ or dysfunction of CXCR4, the natural receptor of stromal cell-derived factor 1 [SDF-1 or CXCL12], which is implicated in the control of bone marrow homing of precursor cells and lymphocyte trafficking. Recently described, this poorly recognized immune defect is often inherited as an autosomal dominant trait and is responsible for multiple respiratory infectious events and the development of extensive HPV-induced warts. We report the case of a 36 year old man, who had been under follow up for many years because of diffuse bronchiectasis, with frequent pulmonary infections and progressive lung function deterioration. Late identification of a CXCR4 gene mutation led to a better understanding of the pathophysiology of his condition, allowing the discussion of future therapeutic strategies and finally to test relatives for similar mutations.

[Late respiratory function complications following burns]. / Séquelles fonctionnelles respiratoires tardives compliquant une immolation.

INTRODUCTION: Twenty five per cent of thermal injuries are associated with secondary respiratory events linked to several mechanisms. In the acute phase of the accident oedema of the airways, the fume inhalation syndrome and ARDS are the most common causes responsible for death in 60% of cases. Late respiratory complications are little known and neglected. They comprise obstructive ventilatory defects due to the inhalation syndrome and restrictive defects secondary to ARDS or to dermal injury. CASE REPORT: We report the case of a female patient, extensively burnt 2 years previously, admitted to hospital with severe acute respiratory failure complicating COPD. The presence of both restrictive and obstructive defects led to the suggestion of alternative underlying mechanisms such as the pulmonary consequences of ARDS and extensive dermal scars. The latter were responsible for an armour like thickening of the skin of the thorax compatible with the restrictive defect. CONCLUSIONS: These functional abnormalities and the potential severity of acute respiratory failure are indications for regular pulmonary follow-up of patients with severe circumferential scarring of the thorax who are at high risk for respiratory complications.