BPD_28D (O2 dependency at 28 days of life) and BPD_36W (O2 dependency at 36 wks post-menstrual age) are diseases of prematurely born infants exposed to mechanical ventilation and/or oxygen supplementation. In order to determine whether genetic variants of surfactant proteins (SPs-A, B, C, and D) and SP-B-linked microsatellite markers are risk factors in BPD, we performed a family based association study using a Greek study group of 71 neonates (<30 wks gestational age) from 60 families with, 52 BPD_28D and 19 BPD_36W, affected infants. Genotyping was performed using newly designed pyrosequencing assays and previously published methods. Associations between genetic variants of SPs and BPD subgroups were determined using Transmission Disequilibrium Test (TDT) and Family Based Association Test (FBAT). Significant associations (p ≤ 0.01) were observed for alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B. Specifically, allele B-18_C associated with susceptibility in BPD_36W. Microsatellite marker AAGG_6 associated with susceptibility in BPD_28D/36W group. Haplotype analysis revealed ten susceptibility and one protective haplotypes for SP-B and SP-B-linked microsatellite markers and two SP-A-SP-D protective haplotypes. The data indicate that SP loci are linked to BPD. Studies in different study groups and/or of larger sample size are warranted to confirm these observations and delineate genetic background of BPD subgroups.
Genetic variants of surfactant protein B (SP-B) have been associated with respiratory distress syndrome (RDS) in the prematurely born infant. We wished to determine linkage between RDS and SP-B single nucleotide polymorphisms (SNPs) [Ϫ18 (A/C), 1013 (A/C), 1580 (C/T), and 9306 (A/G)] or SP-B-linked microsatellite [(D2S388, D2S2232, (AAGG)n, and GATA41E01 (or D2S1331)] loci and identify susceptibility or protective alleles and haplotypes. We genotyped 132 families consisting of one or two parents and at least one child affected with RDS and performed biallelic and multiallelic family-based association test (FBAT) analysis, and extended transmission disequilibrium test (ETDT). ETDT analysis identified the microsatellite SP-B-linked loci (except D2S2232) to be linked to RDS. One allele from each of these three marker loci contributes to the risk of RDS. Multiallelic FBAT analysis detected a signal of linkage for the region of the four SNP loci. Three haplotypes within this region contribute to RDS risk. Although no other region showed significant linkage as judged by multiallelic FBAT, biallelic FBAT analysis revealed three potential susceptibility haplotypes formed by two to four loci within the SP-B and SP-B-linked microsatellite region. Each haplotype included GATA41E01, which was identified by ETDT analysis to be linked to RDS. We conclude that SP-B or SP-B-linked loci are linked to RDS and certain alleles or haplotypes are susceptibility or protective factors for the development of RDS in infants born prematurely. Abbreviations: ETDT, extended transmission disequilibrium test; FBAT, family-based association test; PIC, polymorphism information content; RDS, respiratory distress syndrome; SNP, single nucleotide polymorphism; SP-A, surfactant protein A; SP-B, surfactant protein B
Chemotactic and random migrations of neutrophils derived from four patients with primary hyperparathyroidism were found to be defective. These abnormalities improved significantly in parallel with the decrease in serum calcium and parathormone and with the increase in serum phosphorus concentration after surgical removal of the adenoma. These observation suggest a possible role for parathormone phosphorus and calcium in the motility of neutrophils.
Preterm AGA infants with birth weights 9 0 0-1 4 0 0 g are studied in this controlled randomized multicenter trial. The infants are followed from 3 t o 8 weeks of age with a further assessment a t the age of 1 6 weeks. Only "healthy preterms" are included. Human milk is given throughout the study, and both treatment group and controls receive extra protein and iron t o ensure sufficient supply for increased red cell production. Milk protein (0.9 gllOO rnl human milk) and oral iron I18 mg Fe++lday increasing t o 36 mglday if serum iron falls below 1 6 pmolll) are given. EPO (Eprex, Cilag AG) is given s.c. thrice weekly; 1 0 0 IUIkgldose from week 3 t o week 7. Until now 2 4 children have been included (1 0 treated & 1 4 controlsl. Preliminary data show : BW of the groups are similar (1 2 9 4 g and 1 2 4 4 g). There
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