RESUMO
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.
Assuntos
Educação Médica Continuada/métodos , Programas de Rastreamento , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Espirometria , Adulto , Avaliação Educacional , Estudos de Viabilidade , Feminino , França/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Programas de Rastreamento/instrumentação , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Padrões de Prática Médica/normas , Padrões de Prática Médica/estatística & dados numéricos , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Estudos Retrospectivos , Medição de Risco , Espirometria/instrumentação , Espirometria/métodos , Inquéritos e QuestionáriosRESUMO
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.
Assuntos
Doença Pulmonar Obstrutiva Crônica/patologia , Progressão da Doença , Suscetibilidade a Doenças , Meio Ambiente , Células Epiteliais/patologia , Humanos , Pulmão/patologia , Pulmão/fisiopatologia , Estresse Oxidativo/genética , Estresse Oxidativo/fisiologia , Doença Pulmonar Obstrutiva Crônica/etiologiaRESUMO
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.
Assuntos
Aspirina/efeitos adversos , Hipersensibilidade a Drogas/diagnóstico , Adulto , Idoso , Antiasmáticos/uso terapêutico , Aspirina/imunologia , Asma/diagnóstico , Asma/tratamento farmacológico , Asma/epidemiologia , Contagem de Células Sanguíneas , Plaquetas/efeitos dos fármacos , Comorbidade , Diagnóstico Diferencial , Hipersensibilidade a Drogas/epidemiologia , Eosinófilos/efeitos dos fármacos , Feminino , Humanos , Masculino , Anamnese , Pessoa de Meia-Idade , Pólipos Nasais/diagnóstico , Pólipos Nasais/epidemiologia , Neutrófilos/efeitos dos fármacos , Estudos Prospectivos , Hipersensibilidade Respiratória/induzido quimicamente , Rinite Alérgica Perene/diagnóstico , Rinite Alérgica Perene/epidemiologia , Sensibilidade e Especificidade , Distribuição por Sexo , Adulto JovemRESUMO
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.
Assuntos
Administração de Caso/organização & administração , Doenças Transmissíveis Emergentes/diagnóstico , Doenças Transmissíveis Emergentes/tratamento farmacológico , Tuberculose Resistente a Múltiplos Medicamentos/diagnóstico , Tuberculose Resistente a Múltiplos Medicamentos/terapia , Adulto , Antituberculosos/uso terapêutico , Doenças Transmissíveis Emergentes/epidemiologia , Feminino , Humanos , Masculino , Medicina de Precisão/métodos , Prevalência , Estudos Retrospectivos , Procedimentos Cirúrgicos Operatórios , Tuberculose Resistente a Múltiplos Medicamentos/epidemiologiaRESUMO
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.
Assuntos
Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Pneumotórax/genética , Síndrome de Birt-Hogg-Dubé/patologia , Cistos/genética , Diagnóstico Diferencial , Drenagem , Éxons/genética , Feminino , Mutação em Linhagem Germinativa/genética , Humanos , Neoplasias Renais/genética , Pneumopatias/genética , Pessoa de Meia-Idade , Linhagem , Pneumotórax/diagnóstico , Pneumotórax/terapia , Prognóstico , Proteínas Proto-Oncogênicas/genética , Doenças Raras , Proteínas Supressoras de Tumor/genéticaRESUMO
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.
Assuntos
Doenças Pulmonares Intersticiais , Complicações na Gravidez , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/tratamento farmacológico , Doenças do Tecido Conjuntivo/epidemiologia , Doenças do Tecido Conjuntivo/fisiopatologia , Feminino , Fármacos para a Fertilidade Feminina/efeitos adversos , Histiocitose de Células de Langerhans/diagnóstico , Humanos , Pneumonias Intersticiais Idiopáticas/diagnóstico , Pneumonias Intersticiais Idiopáticas/terapia , Doenças Pulmonares Intersticiais/epidemiologia , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/fisiopatologia , Doenças Pulmonares Intersticiais/terapia , Linfangioleiomiomatose/diagnóstico , Linfangioleiomiomatose/epidemiologia , Linfangioleiomiomatose/terapia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etiologia , Complicações na Gravidez/fisiopatologia , Complicações na Gravidez/terapia , Resultado da Gravidez , Proteinose Alveolar Pulmonar/diagnóstico , Proteinose Alveolar Pulmonar/terapia , Edema Pulmonar/diagnóstico , Edema Pulmonar/etiologia , Edema Pulmonar/terapia , Eosinofilia Pulmonar/diagnóstico , Eosinofilia Pulmonar/tratamento farmacológico , Fatores de Risco , Sarcoidose Pulmonar/tratamento farmacológico , Sarcoidose Pulmonar/epidemiologia , Sarcoidose Pulmonar/fisiopatologia , Vasculite Sistêmica/tratamento farmacológico , Vasculite Sistêmica/epidemiologia , Vasculite Sistêmica/fisiopatologiaRESUMO
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.
Assuntos
Sarcoma Sinovial/diagnóstico , Neoplasias Torácicas/diagnóstico , Parede Torácica , Biomarcadores Tumorais/análise , Terapia Combinada , Diagnóstico Diferencial , Seguimentos , Humanos , Excisão de Linfonodo , Imageamento por Ressonância Magnética , Masculino , Invasividade Neoplásica , Pleuropneumonia/diagnóstico , Pleuropneumonia/patologia , Pneumonectomia , Prognóstico , Radioterapia Adjuvante , Sarcoma Sinovial/patologia , Sarcoma Sinovial/radioterapia , Sarcoma Sinovial/cirurgia , Fumar/efeitos adversos , Neoplasias Torácicas/patologia , Neoplasias Torácicas/radioterapia , Neoplasias Torácicas/cirurgia , Parede Torácica/patologia , Parede Torácica/cirurgia , Toracotomia , Adulto JovemRESUMO
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.
Assuntos
DNA/genética , Predisposição Genética para Doença , Glicoproteínas de Membrana/genética , Mutação , Sarcoidose/genética , Adulto , Alelos , Butirofilinas , Feminino , Homozigoto , Humanos , Masculino , Glicoproteínas de Membrana/sangue , Linhagem , Reação em Cadeia da Polimerase , Sarcoidose/sangue , Sarcoidose/diagnósticoRESUMO
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.
Assuntos
Bronquiectasia/etiologia , Pneumopatias/microbiologia , Receptores CXCR4/genética , Adulto , Agamaglobulinemia , Infecções Bacterianas , Células da Medula Óssea/patologia , Humanos , Masculino , Mutação , Neutrófilos , Recidiva , Síndrome , VerrugasRESUMO
INTRODUCTION: Abrikossoff's tumour or granular cell tumour is usually benign involving multiple anatomical sites, most frequently the head, neck and airways. Occasional observations of aggressive malignant tumours have been reported, associated with a poor prognosis. CASE REPORT: We report the case of a mammary Abrikossoff's tumour, initially considered benign and treated solely by local surgery. Seven years later the tumour was responsible for the development of sub-cutaneous and pulmonary metastases. Local surgery was again the only treatment given in the absence of evidence for the effectiveness of alternative treatment with chemotherapy or radiotherapy. CONCLUSION: This original observation reports the case of a benign granular cell tumour that underwent malignant transformation after an interval of 7 years as indicated by the clinical progress and the cellular proliferation index Ki-67.
Assuntos
Neoplasias da Mama/patologia , Transformação Celular Neoplásica/patologia , Tumor de Células Granulares/secundário , Neoplasias Pulmonares/secundário , Adulto , Biomarcadores Tumorais/análise , Neoplasias da Mama/cirurgia , Feminino , Seguimentos , Tumor de Células Granulares/patologia , Humanos , Antígeno Ki-67/análise , Proteínas S100/análise , Neoplasias Cutâneas/secundárioRESUMO
INTRODUCTION: Sweet's syndrome, one of the neutrophilic dermatoses, is idiopathic in most cases. In 10-20% of cases it is paraneoplastic, associated with a solid tumour or haematological malignancy. An association with carcinoma of the bronchus has been only rarely described. CASE REPORT: We report the case of a 56 year old man who presented with Sweet's syndrome two months before the diagnosis of a squamous cell carcinoma of the bronchus. The dermatosis responded well to corticosteroids. The progress of the tumour was favourable, with stabilisation following 3 courses of chemotherapy and local radiotherapy. DISCUSSION: This case report updates this rare association and underlines the importance of undertaking appropriate thoracic investigations in the presence of this dermatosis. A paraneoplastic secretion of interleukin-8, GM-CSF and/or G-CSF by the bronchial tumour cells facilitating the recruitment of neutrophils, particularly in the skin, may account for the pathophysiology of this condition.
Assuntos
Neoplasias Brônquicas/complicações , Carcinoma Pulmonar de Células não Pequenas/complicações , Carcinoma de Células Escamosas/complicações , Neoplasias Pulmonares/complicações , Síndromes Paraneoplásicas/etiologia , Síndrome de Sweet/etiologia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Aspergillus fumigatus is a ubiquitous soil-dwelling organism, which can cause both aspergillomas which develop in a preformed lung cavity, and aspergillus bronchitis. The two pathologies can occasionally co-exist, notably in patients with of cystic fibrosis. CASE REPORT: We describe a 57 year old patient, with diffuse bronchiectasis, who developed aspergillus bronchitis as well as an aspergilloma complicating a cavity caused by an atypical mycobacterial infection. After one month of therapy with voriconazole the aspergilloma had decreased in size and the endobronchial changes had resolved. CONCLUSION: This case report illustrates that in addition to its established role for the treatment of invasive aspergillosis, voriconazole is a promising new therapy for the treatment of aspergilloma and aspergillus bronchitis.