Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), skin fibrofolliculomas and renal carcinoma (chromophobe). Here, we comprehensively studied the mutational background of 31 clinically diagnosed BHDS patients and their 74 asymptomatic related members from 15 Indian families.

Anti--benzoquinone antibody level as a prospective biomarker to identify smokers at risk for COPD.

Background And Objective: Identification of smokers having predisposition to COPD is important for early intervention to reduce the huge global burden of the disease. Using a guinea pig model, we have shown that -benzoquinone (-BQ) derived from cigarette smoke (CS) in the lung is a causative factor for CS-induced emphysema. -BQ is also derived from CS in smokers and it elicits the production of anti--BQ antibody in humans.

Spectrum of diffuse parenchymal lung diseases with special reference to idiopathic pulmonary fibrosis and connective tissue disease: An eastern India experience.

Objective: To evaluate the clinical spectrum of diffuse parenchymal lung diseases (DPLD) encountered in the Indian setting and to compare idiopathic pulmonary fibrosis (IPF) and connective tissue disease associated DPLD (CTD-DPLD), the two commonest aetiologies.

Materials And Methods: A prospective study of clinical, imaging and laboratory parameters of patients diagnosed as DPLD and followed up in the Pulmonary Medicine Department of a tertiary-care teaching institution in eastern India was conducted over a period of one year.

Results: 92 patients of DPLD were diagnosed in the study period with IPF (n = 35, 38.

Pulmonary disease due to Mycobacterium massiliense.

We report a case of a patient suffering from multidrug-resistant pulmonary tuberculosis (MDR-PTB) who later developed an invasive infection of the respiratory tract with a rapidly growing non-tuberculous mycobacteria (NTM), recently identified as Mycobacterium massiliense, closely related to M. abscessus. To the best of our knowledge, this is the first case of M.

Metastatic pleural effusion: a rare presentation of salivary gland adenoid cystic carcinoma.

Adenoid cystic carcinoma, an uncommon malignant salivary gland neoplasm, is known for its long clinical course, indolent growth, local recurrence and late distant metastasis. We report an unusual case of adenoid cystic carcinoma of the palate in a 64-year-old woman, undiagnosed for more than 15 years, who presented as malignant pleural effusion.

Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation.

Arteriovenous malformations of the lung are rare pulmonary vascular disorders which can suddenly lead to life threatening complications. Haemothorax due to rupture of a pulmonary arteriovenous malformation (PAVM) is very rare. We report here a case of a 39 year-old lady who presented with an acute onset of shortness of breath due to right-sided massive haemothorax and was subsequently detected to have pulmonary as well as cerebral arteriovenous malformation (CAVM).

Occurrence of allergic bronchopulmonary mycosis in patients with asthma: An Eastern India experience.

Background: Allergic bronchopulmonary mycosis (ABPM) is a clinical syndrome associated with immune sensitivity to various fungi notably Aspergillus spp. that colonize the airways of asthmatics. Early diagnosis and treatment with systemic corticosteroids is the key in preventing the progression of the disease to irreversible lung fibrosis.

Adult thoracic empyema: A comparative analysis of tuberculous and nontuberculous etiology in 75 patients.

Background: Thoracic empyema is a disease of significant morbidity and mortality, especially in the developing world where tuberculosis remains a common cause. Clinical outcomes in tuberculous empyema are complicated by the presence of concomitant fibrocavitary parenchymal disease and frequent bronchopleural fistulae. We performed a prospective study over a one-and-a-half-year period with the objective of comparing the clinical profiles and outcomes of patients with tuberculous and nontuberculous empyema.

Pregnancy unmasking lymphangioleiomyomatosis.

A 30 year-old housewife presented with cough and shortness of breath which progressed during her ensuing pregnancy, culminating in a still-birth at 9 months of gestation and requiring her hospitalisation in the immediate postpartum period. HRCT scan of the thorax showed thin-walled cysts and open lung biopsy confirmed the clinical impression of lymphangioleiomyomatosis. She was put on oral medroxyprogesterone acetate.