Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.

Introduction: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders.

Case Presentation: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of gene (c.1360delG).

The effect of nintedanib on lung functions and survival in idiopathic pulmonary fibrosis: real-life analysis of the Czech EMPIRE registry.

Introduction: The antifibrotic drug nintedanib is used for the treatment of idiopathic pulmonary fibrosis (IPF). We analysed the effect of nintedanib on antifibrotic treatment outcome in real-world cohorts of Czech EMPIRE registry.

Patients/methods: Data of 611 Czech IPF subjects, 430 (70%) treated with nintedanib (NIN group), 181 (30%) with no-antifibrotic treatment (NAF group) were analysed.

Lymphangioleiomyomatosis.

Background: Lymphangioleiomyomatosis (LAM) is a rare systemic disease that occurs sporadically (S/LAM) or as part of tuberous sclerosis (TS/LAM). LAM is characterized by proliferation of abnormal smooth muscle cells. This disease clinically manifests as dyspnea on exertion and pneumothorax.