Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner’s syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.
Background
Breast milk is preferred for the feeding of very low‐birth‐weight (VLBW) infants, but it does not meet nutrition requirements unless it is fortified. Adequate protein intake to maintain the growth of preterm infants cannot be provided by standard fortification methods because of variation in the protein content of human milk. Individualization is necessary to achieve target protein intakes. The goal of this study was to compare the effects of 2 different methods of individualized protein fortification of breast milk on the early growth of VLBW preterm infants.
Methods
In a prospective observational study, VLBW preterm infants ≤32 weeks of gestational age were randomized into 2 groups according to the method of breast milk fortification. Anthropometric measurements were performed in both groups weekly for 4 weeks to compare their growth.
Results
During the trial period, the daily protein intake (targeted vs adjustable fortification groups) was (median [range]) 4.5 (4.4–4.6) vs 4.01 (3.5–4.4) g/kg/d (P = 0.001); the daily weight gains (g/d and g/kg/d; mean ± SD) were 25.7 ± 3.9 vs 22.2 ± 6.4 g/d (P = 0.048) and 23.1 ± 4.3 vs 18.7 ± 4.3 g/kg/d (P = 0.014); and the weekly increase in head circumference was 9.8 ± 1.5 vs 8.4 ± 2.1 mm/wk (P = 0.040). All parameters were significantly higher in the targeted than the adjustable fortification group.
Conclusions
Individualized protein fortification using the targeted method for VLBW preterm infants had more positive effects on short‐term growth compared with the adjustable fortification method.
: Renal vein thrombosis in a neonate is a rare but well recognized condition with low mortality but high morbidity. The cause has not been explained clearly yet but is probably a multifactorial process that includes inherited prothrombotic abnormalities. Antenatal onset of renal vein thrombosis is important due to the increased risk for permanent organ damage. We report a case of prenatal thrombosis of the renal veins and the inferior vena cava in a newborn with double heterozygosity for factor V Leiden and prothrombin gene mutations who had persistently impaired renal function requiring chronic peritoneal dialysis.
Although positive QFT-GIT test is very significant for TB, negative results will not exclude TB infection. TST and QFT-GIT used together may provide more efficient results.
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