Glucose metabolism soon after birth in very premature infants with small- and appropriate-for-gestational-age birth weights.

UNLABELLED: The intrauterine environment affects the development of insulin resistance in adulthood. To determine the influence of foetal growth restriction on glucose metabolism, we assessed indices of insulin sensitivity soon after birth in very premature infants. Blood samples were collected at birth from 52 premature infants with a gestational age of ≤31 weeks, who were divided into a group whose birth weight was small for their gestational age (SGA group, n=19) and a group whose birth weight was appropriate for their gestational age (AGA group, n=33). Blood glucose, serum insulin and C-peptide immunoreactivity (CPR) levels were measured in both groups. Furthermore, the quantitative insulin check index (QUICKI) was also calculated. Correlations between these indices and glucose metabolism and the standard deviation (SD) score for birth weight were also determined. The levels of insulin and CPR were significantly (p<0.05) lower in the SGA group than in the AGA group. The QUICKI was significantly (p<0.05) higher in the SGA group compared with the AGA group. The SD score for birth weight was correlated with the QUICKI (p<0.01), the serum insulin level (p<0.05) and the CPR level (p<0.05) in all 52 infants. CONCLUSION: In very premature infants, poor foetal growth may impair foetal insulin secretion and affect the QUICKI at birth.

Prophylaxis for ribavirin-related anemia using eicosapentaenoic acid in chronic hepatitis C patients.

BACKGROUND: Ribavirin-related anemia is a serious side-effect of the pegylated interferon and ribavirin therapy used for hepatitis C, and may be cause for a reduction in ribavirin dose or even cessation of treatment. The aim of this study was to evaluate the prophylactic effects of oral eicosapentaenoic acid (EPA) supplementation on ribavirin-induced hemolytic anemia in pediatric and young adult patients. METHODS: Twelve chronic hepatitis C patients ranging in age from 3 to 21 years (mean, 13.9 ± 5.1 years) who received pegylated interferon α-2b and ribavirin combination therapy were randomized to either the control group (n = 6) or EPA group (n = 6). Blood samples were collected before, and at 4, 8, and 16 weeks after treatment to measure clinical laboratory parameters. RESULTS: The reduction in hemoglobin levels of the EPA group was significantly ameliorated at 8 and 16 weeks when compared to the control group (P < 0.05). There was no significant difference in plasma ribavirin concentrations between the two groups during the treatment. However, one patient in the control group had a reduction in ribavirin dose. CONCLUSION: EPA supplementation prevented ribavirin-induced hemolytic anemia during combination therapy with pegylated interferon α-2b and ribavirin in pediatric and young adult patients.

Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene.

CONTEXT: Mutations in the GH1 gene have been identified in patients with isolated growth hormone deficiency (IGHD). Mutations causing aberrant splicing of exon 3 of GH1 that have been identified in IGHD are inherited in an autosomal dominant manner, whereas other mutations in GH1 that have been identified in IGHD are inherited in an autosomal recessive manner. OBJECTIVE: Two siblings born from nonconsanguineous healthy parents exhibited IGHD. To elucidate the cause, GH1 in all family members was analysed. RESULTS: Two novel mutations in GH1, a point mutation in intron 3 and a 16-bp deletion in exon 3, were identified by sequence analyses. The intronic mutation was present in both siblings and was predicted to cause aberrant splicing. The deletion was present in one of the siblings as well as the mother with normal stature and was predicted to cause rapid degradation of mRNA through nonsense-mediated mRNA decay. The point mutation was not identified in the parents' peripheral blood DNA; however, it was detected in the DNA extracted from the father's sperms. As a trace of the mutant allele was detected in the peripheral blood of the father using PCR-RFLP, the mutation is likely to have occurred de novo at an early developmental stage before differentiation of somatic cells and germline cells. CONCLUSIONS: This is the first report of mosaicism for a mutation in GH1 in a family with IGHD. It is clear that the intronic mutation plays a dominant role in the pathogenesis of IGHD in this family, as one of the siblings who had only the point mutation was affected. On the other hand, the other sibling was a compound heterozygote for the point mutation and the 16-bp deletion and it may be arguable whether IGHD in this patient should be regarded as autosomal dominant or recessive.