Pulmonary surfactant is a complex lipoprotein mixture secreted into the alveolar lumen by
type 2 pneumocytes, which is composed by tens of different lipids (approximately 90% of its …

Background: Unraveling the genetic background in a significant proportion of patients with
both sporadic and familial IPF provided new insights into the pathogenic pathways of …

Patients with familial pulmonary fibrosis represent a subset of patients with pulmonary
fibrosis in whom inherited gene variation predisposes them to disease development. In the …

The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly
appreciated. Monogenic disorders associated with IPF affect two pathways: telomere …

Genetic disorders of surfactant dysfunction result in significant morbidity and mortality,
among infants, children, and adults. Available medical interventions are limited, nonspecific …

Summary Background Since the previous French guidelines were published in 2017,
substantial additional knowledge about idiopathic pulmonary fibrosis has accumulated …

Benign hereditary chorea (BHC) is a rare genetically heterogeneous movement disorder, in
which conventional neuroimaging has been reported as normal in most cases. Cystic …

Alveolar lining fluid requires surfactant to prevent alveolar collapse at end expiration. This
activity is generated by interactions of phospholipids with the hydrophobic surfactant …

Background: Respiratory distress is a clinical finding often seen in neonates. Common
causes of respiratory distress in this population include respiratory distress syndrome …

脑-肺-甲状腺综合征是一种罕见的常染色体显性遗传性疾病， 目前全球共报道100 余例，
国内鲜有报道。 2018 年12 月中南大学湘雅医院儿科收治1 例3 岁10 月龄男性脑-肺 …