Artificial Ventilation of the Very Small Premature Infant with Respiratory Insufficiency

Neonatology ◽  
1970 ◽  
Vol 16 (1-3) ◽  
pp. 184-186 ◽  
Author(s):  
N. Räihä ◽  
E. Vapaavuori
Keyword(s):  
Premature Infant ◽  
Respiratory Insufficiency ◽  
Artificial Ventilation

scholarly journals Identification and characterization of a novel ABCA3 mutation

2010 ◽  
Vol 40 (2) ◽  
pp. 94-99 ◽  
Author(s):  
Sang-Kyu Park ◽  
Louella Amos ◽  
Aparna Rao ◽  
Michael W. Quasney ◽  
Yoshihiro Matsumura ◽  
...  
Keyword(s):  
Premature Infant ◽  
Respiratory Insufficiency ◽  
Atp Hydrolysis ◽  
Novel Mutation ◽  
Intracellular Localization ◽  
Hek293 Cells ◽  
Mutant Protein ◽  
Chronic Respiratory Insufficiency ◽  
Hydrolysis Activity

Mutations in the gene coding for ATP-binding cassette protein A3 (ABCA3) are recognized as a genetic cause of lung disease of varying severity. Characterization of a number of mutant ABCA3 proteins has demonstrated that the mutations generally affect intracellular localization or the ability of the protein to hydrolyze ATP. A novel heterozygous mutation that results in the substitution of cysteine for arginine at amino acid 295 in ABCA3 was identified in a premature infant with chronic respiratory insufficiency and abnormal lamellar bodies. Sequencing of DNA performed in study participants demonstrated that this was a mutation and not a common variant. Plasmid vectors containing ABCA3 with the identified novel mutation tagged with green fluorescent protein on the carboxy terminus were generated. The effect of the mutation on protein function was characterized by examining the glycosylation state of the mutant protein in transiently transfected HEK293 cells and by examining ATP hydrolysis activity of the mutant protein with a vanadate-induced nucleotide trapping assay in stably transfected HEK293 cells. The ABCA3 protein containing the R295C mutation undergoes normal glycosylation and intracellular localization but has dramatically reduced ATP hydrolysis activity (12% of wild type). The identification of one copy of this novel mutation in a premature infant with chronic respiratory insufficiency suggests that ABCA3 haploinsufficiency together with lung prematurity may result in more severe, or more prolonged, respiratory failure.

ARTIFICIAL VENTILATION IN NON-OPERATED PATIENTS WITH RESPIRATORY INSUFFICIENCY

1962 ◽  
Vol 6 ◽  
pp. 30-30
Author(s):  
E. Wainø Andersen ◽  
G. Buchmann ◽  
V. Dyrberg ◽  
S. H. Johansen ◽  
N. E. Møller
Keyword(s):  
Respiratory Insufficiency ◽  
Artificial Ventilation

Management of the Premature Infant

1952 ◽  
Vol 36 (6) ◽  
pp. 1571-1578 ◽  
Author(s):  
Normal Kendall
Keyword(s):  
Premature Infant
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