Publications by authors named "Mohammed Tredano"
The SFTPB gene indel g.1549C > GAA (121ins2) accounts for about 2/3 of the mutant alleles underlying complete surfactant protein B deficiency. It is unclear, however, whether its prevalence is due to recurrent mutation or a founder effect.
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- The study investigates the role of hydrophobic surfactant proteins SP-B and SP-C in chronic childhood lung diseases, particularly focusing on children with pulmonary alveolar proteinosis (PAP) and other respiratory issues.
- Researchers analyzed bronchoalveolar lavage fluid to compare the presence of these proteins in diseased children against those without lung issues, finding certain protein forms linked to specific genetic mutations.
- The findings suggest that testing for these surfactant protein abnormalities can provide insights into pediatric lung disorders, showcasing a minimally invasive diagnostic approach.
Pulmonary surfactant protein C (SP-C) is a highly hydrophobic peptide produced by type-II alveolar cells through the processing of a high-molecular weight precursor (pro-SP-C), that enhances surface tension and facilitates the recycling of pulmonary surfactant in vitro. Recently, two seemingly dominant-negative mutations of the pro-SP-C-encoding gene (SFTPC, MIM 178620), were reported in families with vertically-inherited interstitial lung disease (Nogee et al. [2001: N Engl J Med 344:573-579]; Thomas et al.
View Article and Find Full Text PDFWe have analyzed surfactant protein B (SP-B) and its encoding gene (SFTPB, MIM 178640) in 40 unrelated pediatric patients with unexplained respiratory distress (URD). There was high consanguinity (eight kindreds) and an underlying autosomal recessive trait could be inferred in most cases, with overall high sex ratio (32/17) suggesting proband's gender to impact on penetrance. The clinical/biological presentations fitted into three major nosologic frameworks.
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