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ABSTRACT Cystic fibrosis (CF) and inflammatory bowel disease (IBD) represent distinct pathologies with unique genetic underpinnings; yet, they share remarkable similarities in gut microbiota dysbiosis and intestinal phys...

With over 54,000 people affected, cystic fibrosis is one of the most common rare diseases in Europe. As life expectancy of this disease has steadily increased in recent years, the transition from pediatric to adult care ...

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The vast majority of the mortality is due to pr...

Abstract Objectives To assess the perinatal and maternal outcomes of pregnant women with cystic fibrosis (CF) and severe lung impairment. Methods This was a series of cases aiming to review the maternal and fetal out...

BackgroundTransforming growth factor-β1 (TGF-β1) contributes to more severe pulmonary disease in people with cystic fibrosis (pwCF). Our preclinical in vitro and in vivo studies demonstrated that losartan could reverse...

Cystic fibrosis (CF) is an autosomal recessive disease affecting exocrine glands and frequently presenting with respiratory and gastrointestinal symptoms. Acute dehydration with hypokalemia and metabolic alkalosis is a w...

This study demonstrates up-regulation of alveolar macrophages expressing genes important for inflammation and lipid metabolism in people with cystic fibrosis, identifying potential therapeutic targets. Cystic fibrosis (C...

Abstract Congenital pulmonary airway malformation (CPAM), especially type I, is an uncommon developmental lung defect marked by abnormal proliferation of pseudostratified ciliated columnar epithelium (PCCE) and the prese...

BackgroundN-acetylcysteine (NAC) is a key precursor of glutathione (GSH), the lung’s principal antioxidant. First developed as a mucolytic, NAC is now recognized for broader antioxidant, anti-inflammatory, immunomodula...

ABSTRACT Cystic echinococcosis (CE) is a parasite-borne disease caused by the larval stage of Echinococcus granulosus belonging to family Taeniidae, is an endemic disease, distributed worldwide as a neglected parasite wi...

INTRODUCTION: The Pseudo-Bartter Syndrome, unlike the Bartter and Gitelman Syndromes, is characterized with metabolic alkalosis without a tubular defect. We aimed to summarize the management of metabolic alkalosis by dis...

Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

AimsUnderstanding atypical forms of diabetes (AD) may advance precision medicine, but methods to identify such patients are needed. We propose an electronic health record (EHR)-based algorithmic approach to identify pati...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...