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1.
Hum Genet ; 135(3): 299-307, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26767831

RESUMO

Although epidemiological evidence suggests a human genetic basis of pulmonary tuberculosis (PTB) susceptibility, the identification of specific genes and alleles influencing PTB risk has proven to be difficult. Previous genome-wide association (GWA) studies have identified only three novel loci with modest effect sizes in sub-Saharan African and Russian populations. We performed a GWA study of 550,352 autosomal SNPs in a family-based discovery Moroccan sample (on the full population and on the subset with PTB diagnosis at <25 years), which identified 143 SNPs with p < 1 × 10(-4). The replication study in an independent case/control sample identified four SNPs displaying a p < 0.01 implicating the same risk allele. In the combined sample including 556 PTB subjects and 650 controls these four SNPs showed suggestive association (2 × 10(-6) < p < 4 × 10(-5)): rs358793 and rs17590261 were intergenic, while rs6786408 and rs916943 were located in introns of FOXP1 and AGMO, respectively. Both genes are involved in the function of macrophages, which are the site of latency and reactivation of Mycobacterium tuberculosis. The most significant finding (p = 2 × 10(-6)) was obtained for the AGMO SNP in an early (<25 years) age-at-onset subset, confirming the importance of considering age-at-onset to decipher the genetic basis of PTB. Although only suggestive, these findings highlight several avenues for future research in the human genetics of PTB.


Assuntos
Estudo de Associação Genômica Ampla , Tuberculose Pulmonar/genética , Adolescente , Adulto , Idade de Início , Idoso , Alelos , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição Forkhead/metabolismo , Loci Gênicos , Técnicas de Genotipagem , Humanos , Lactente , Íntrons , Masculino , Pessoa de Meia-Idade , Oxigenases de Função Mista/genética , Oxigenases de Função Mista/metabolismo , Marrocos , Mycobacterium tuberculosis , Polimorfismo de Nucleotídeo Único , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Reprodutibilidade dos Testes , Fatores de Risco , Tuberculose Pulmonar/microbiologia , Adulto Jovem
2.
Rev Mal Respir ; 28(9): 1167-71, 2011 Nov.
Artigo em Francês | MEDLINE | ID: mdl-22123145

RESUMO

INTRODUCTION: Primary biliary cirrhosis is a hepatic auto-immune disease which is rarely associated with respiratory complications. CASE REPORT: A 40-year-old woman had a 5-year history of primary biliary cirrhosis. Two years previously, she had begun to experience a chronic cough and dyspnea. On clinical examination, the patient had fever, jaundice and basal pulmonary crackles. Chest X-ray showed bilateral slowly migrating and spreading airspace consolidation refractory to antibiotics. Microbiological investigations evidenced no abnormalities. Routine biological studies revealed an inflammatory syndrome, a mild neutrophilic hyperleukocytosis without hypereosinophilia and a mild hepatitis picture with cholestasis. Antineutrophil cytoplasmic antibody testing and anti-nuclear factor testing were negative. Fibreoptic bronchoscopy showed diffuse bronchial inflammation with no specific pathological pattern at bronchial biopsy. The bronchoalveolar lavage revealed a mixed cellular pattern. The chest computed tomography revealed peribronchial pulmonary consolidation with septal and pleural thickening, suggestive of an organizing pneumonia. The patient was treated with oral corticosteroids which resulted in a prompt clinical improvement and complete resolution of radiographic pulmonary abnormalities within two months. Treatment continued for six months and no relapse was noticed during the six months following the end of treatment. CONCLUSIONS: This case of organizing pneumonia highlights the importance of physicians considering this condition in women with primary biliary cirrhosis complaining of respiratory symptoms in the context of unresolved pneumonia.


Assuntos
Pneumonia em Organização Criptogênica/complicações , Cirrose Hepática Biliar/complicações , Adulto , Anti-Inflamatórios/uso terapêutico , Pneumonia em Organização Criptogênica/diagnóstico por imagem , Pneumonia em Organização Criptogênica/tratamento farmacológico , Feminino , Humanos , Cirrose Hepática Biliar/diagnóstico por imagem , Cirrose Hepática Biliar/tratamento farmacológico , Prednisona/uso terapêutico , Radiografia Torácica
3.
Rev Pneumol Clin ; 61(4 Pt 1): 264-6, 2005 Sep.
Artigo em Francês | MEDLINE | ID: mdl-16208191

RESUMO

Behcet syndrome is a systemic disease with venous tropism, generally expressed by thrombosis and phlebitis. Arterial involvement is more exceptional but can lead to aneurysm of the pulmonary artery, generally not more than three. We report a patient with Behcet syndrome who developed multiple aneurysms of the pulmonary artery and discuss the clinical, radiological aspects as well as the disease course and therapeutic management.


Assuntos
Aneurisma/etiologia , Síndrome de Behçet/complicações , Artéria Pulmonar , Adulto , Aneurisma/tratamento farmacológico , Síndrome de Behçet/tratamento farmacológico , Ciclofosfamida/uso terapêutico , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Hemissuccinato de Metilprednisolona/uso terapêutico , Prednisona/uso terapêutico
4.
Rev Pneumol Clin ; 61(4 Pt 1): 267-9, 2005 Sep.
Artigo em Francês | MEDLINE | ID: mdl-16208192

RESUMO

Sarcoidosis manifestations in the upper airways and pleura are exceptional, observed in 5% and 1% of cases. We report an exceptional observation of an association of these two localizations in addition to mediastinopulmonary involvement. After confirmation of the diagnosis obtained on bronchial biopsies and nasal mucosa biopsies, pleural sarcoidosis was retained because of the clinical context and the spontaneous resolution of the effusion. The major problem is the absence of a therapeutic consensus on proper management, oral corticosteroid therapy being proposed by some for these particular forms of sarcoidosis.


Assuntos
Sarcoidose Pulmonar/complicações , Sinusite/complicações , Biópsia , Brônquios/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Mucosa Nasal/patologia , Sarcoidose Pulmonar/diagnóstico
6.
Rev Pneumol Clin ; 59(3): 172-5, 2003 Jun.
Artigo em Francês | MEDLINE | ID: mdl-13130205

RESUMO

We report a case of primary pulmonary Hodgkin's disease in a 20 year-old woman. The chest x-ray showed a chronic alveolar syndrome. The diagnosis was established from a pulmonary biopsy. The radiological features and the options for diagnosis of primary pulmonary Hodgkin's disease are discussed.


Assuntos
Doença de Hodgkin/complicações , Neoplasias Pulmonares/complicações , Alvéolos Pulmonares/patologia , Adulto , Biópsia , Feminino , Doença de Hodgkin/diagnóstico por imagem , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Radiografia , Síndrome
7.
Rev Pneumol Clin ; 59(5 Pt 1): 307-9, 2003 Nov.
Artigo em Francês | MEDLINE | ID: mdl-14707927

RESUMO

We report a case of a patient with intrathoracic extramedullary hematopoiesis presenting as a posterior mediastinal tumor, without associated myelofibrosis. Pathophysiology and the options for diagnosis and treatment in this condition are discussed.


Assuntos
Hematopoese Extramedular , Neoplasias do Mediastino/etiologia , Adulto , Humanos , Masculino , Neoplasias do Mediastino/diagnóstico
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