Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.

Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants.

Use of Next-Generation Sequencing to Support the Diagnosis of Familial Interstitial Pneumonia.

Familial interstitial pneumonia (FIP) is defined as idiopathic interstitial lung disease (ILD) in two or more relatives. Genetic studies on familial ILD discovered variants in several genes or associations with genetic polymorphisms. The aim of this study was to describe the clinical features of patients with suspected FIP and to analyze the genetic variants detected through next-generation sequencing (NGS) genetic testing.

Gastric rupture during fiberoptic bronchoscopy, a rare complication of oxygen administration by nasopharyngeal cannula: a case report.

Concomitant use of a nasopharyngeal catheter is frequently used for oxygen supply during fiberoptic bronchoscopy (FOB). This is a procedure that presents possible complications that are not negligible. We demonstrate the case of a 61-year-old woman who underwent FOB due to a history of hemoptoic sputum.