The occurrence of pulmonary fibrosis in numerous individuals from the same family
suggests a genetic cause for the disease. During the last 10 years, mutations involving …

Abstract Background Since the latest 2017 French guidelines, knowledge about idiopathic
pulmonary fibrosis has evolved considerably. Methods Practical guidelines were drafted on …

Advances in the physiology, biochemistry, molecular and cell biology of the pulmonary
surfactant system transformed the clinical care and outcome of preterm infants with …

Background Since its localization to the NKX2‐1 gene in 2002, the phenotype of the
disorder historically called “benign hereditary chorea” has been expanding beyond chorea …

Respiratory distress is one of the most common clinical presentations in newborns requiring
admission to a Neonatal Intensive Care Unit (NICU). Many of these infants develop …

BACKGROUND: Mutations in the NK2 homeobox 1 (NKX2-1) gene are associated with lung
disease in infants and children. We hypothesize that disruption of normal surfactant gene …

Background Autoimmune response after the infection of SARS-COV-2 is evident as more
cases of Guillain Barre syndrome and Kawasaki disease are diagnosed. In this study, we …

Shaping the future of an ultra-rare disease: unmet needs in... : Current Opinion in Pulmonary
Medicine Shaping the future of an ultra-rare disease: unmet needs in the diagnosis and …

Background Genetic variants responsible for childhood interstitial lung disease (chILD) have
not been studied extensively in Japanese patients. Methods The study population consisted …

Benign hereditary chorea (BHC) is a rare autosomal dominant condition characterized by
early onset, non-progressive chorea, usually caused by mutations in the thyroid transcription …