Ola Saugstad

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Ioannis Kokkinopoulos

Biomedical Research Foundation, Academy of Athens

David Seamon

Kansas State University

Armando Marques-Guedes

UNL - New University of Lisbon

Gustavo Caponi

Universidade Federal de Santa Catarina - UFSC (Federal University of Santa Catarina)

Aldacilene Silva

Universidade de São Paulo

Boris Liebrenz

Sächsische Akademie der Wissenschaften zu Leipzig

Dr. Mohammed Abdul Hannan Hazari

Deccan College of Medical Sciences, Hyderabad, India.

Maria do Rosário Morujão

Universidade de Coimbra

Nwangwa Eze

DELTA STATE UNIVERSITY, ABRAKA, DELTA STATE, NIGERIA

Marina García-Macia

Albert Einstein College of Medicine - Yeshiva University

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Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease

Acta Paediatrica, Feb 1, 2007

To investigate whether intractable respiratory distress syndrome in three Norwegian term infants ... more To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene. The genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) were sequenced from the parents of one infant and two unrelated infants with fatal neonatal lung disease. Lung tissue was examined by histology, immunohistochemistry and electron microscopy. Novel ABCA3 mutations were identified in each family. One patient had a phenotype differing from previous descriptions of this disease with an initial uneventful period. The diagnosis was established 19 years after death by analysing DNA material from the parents, with an ABCA3 mutation identified on one allele in each parent. The other two infants had more typical clinical courses with the onset of respiratory symptoms immediately after birth. ABCA3 mutations were identified on both alleles from these two infants, and electron microscopy of alveolar type 2 cells demonstrated abnormal lamellar body formation characteristic of this disorder. ABCA3 mutations were the basis for lung disease in all three patients. Children with lung disease due to ABCA3 deficiency may not have symptoms at birth. The finding of five novel mutations indicates allelic heterogeneity for ABCA3 mutations within the Norwegian population.

357 Changes in the Concentration and Distribution of Immunoglobulin Producing Cells in Sids Palatine Tonsils

Pediatric Research, Jul 1, 1994

There is evidence to suggest that small airway closure may be involved in ALTE '. We present data... more There is evidence to suggest that small airway closure may be involved in ALTE '. We present data from 2 infants who showed an abnormally high surface tension of theiroulmonarv surfactant. The fust of these infants (MS) presented at 2 months of age &th a history of severe cyanotic episodes starting one &k pnor to admission to our unir One of these eoisodes could be documented and showed an exuemelv rapid fall in arterial oxygen sahration to 40%. but no apnoea The second infant, a 4-month old boy. had had a history of 3 cyanotic episodes requiring intubation prior to admis

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