Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.

Background: Severe alpha1-antitrypsin (AAT) deficiency (AATD) is associated with a high risk of airflow obstruction and emphysema. The risk of lung disease in those with intermediate AAT deficiency is unclear. Our aims were to compare pulmonary function, time of onset of symptoms, and indicators of quality of life among patients with severe AATD (PI*ZZ), patients with intermediate AATD (PI*MZ) from the Italian Registry of AATD with a chronic obstructive pulmonary disease (COPD) cohort of patients without AATD (PI*MM).

Bacterial load and inflammatory response in sputum of alpha-1 antitrypsin deficiency patients with COPD.

Background: Airway inflammation may drive the progression of chronic obstructive pulmonary disease (COPD) associated with alpha-1 antitrypsin deficiency (AATD), but the relationship between airway microbiota and inflammation has not been investigated.

Methods: We studied 21 non-treated AATD (AATD-noT) patients, 20 AATD-COPD patients under augmentation therapy (AATD-AT), 20 cigarette smoke-associated COPD patients, 20 control healthy smokers (CS) and 21 non-smokers (CON) with normal lung function. We quantified sputum inflammatory cells and inflammatory markers (IL-27, CCL3, CCL5, CXCL8, LTB, MPO) by ELISA, total bacterial load (16S) and pathogenic bacteria by qRT-PCR.

Does V600E BRAF mutation predict vinorelbine efficacy? A proof-of-concept from a lung micropapillary adenocarcinoma metastatic to the breast.

mutations occur in about 3% of all lung adenocarcinomas and V600E missense mutation characterizes about half of -mutated lung adenocarcinomas and is significantly associated with micropapillary pattern and shorter disease-free and overall survival rates. In this report, we report a challenging case of a patient with a metastatic micropapillary adenocarcinoma of the lung harbouring V600E mutation who experienced a surprising protracted clinical response to metronomic vinorelbine. The possible association between the V600E mutation pathway and the effective use of vinca alkaloid is discussed.