No abstract

Resumo O tumor de células granulares é uma neoplasia de origem mesenquimatosa, quase sempre benigna, mas com tendência a recidivar. Embora surja com maior frequência na cabeça e no pescoço, tem sido descrito em quase todas as áreas do corpo. A sua ocorrência no pulmão é extremamente rara. Os autores descrevem dois casos de tumores endobrônquicos de células granulares, discutem os aspectos particulares desta patologia, bem como as modalidades terapêuticas utilizadas, com particular ênfase no uso da excisão e crioterapia endobrônquica.

No abstract

Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22–2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08–2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29–2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.

EBUS-TBNA is a valuable tool in the diagnostic workup of patients with suspected stages I and II thoracic sarcoidosis providing a substantial number of pathological confirmations and with few complications. Its high diagnostic accuracy precludes the need for more invasive procedures such as surgical biopsy.

No abstract

The exclusive respiratory involvement by Kaposi sarcoma is rare, especially in the upper airway. When present, it could lead to severe airway compromise. We present the case of a human immunodeficiency virus infection-positive male patient who presents with dyspnea and stridor, and was found to have bilateral vocal cord paralysis and stenosis of the upper airway due to laryngeal and tracheal involvement by Kaposi sarcoma. The patient underwent bronchoscopy for both diagnostic and therapeutic intentions.

No abstract