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Growth hormone insensitivity syndrome (GHIS), a genetic disease characterized by growth retardation combined with high serum concentration of growth hormone (GH) and low insulin-like growth factor 1 (IGF-1) levels, can be caused by mutations in the GH receptor (GHR) gene. We investigated the molecular defects in the GHR gene in a patient with neurofibromatosis type 1 (NF-1). The patient, a 2-year-old boy with NF-1, was assessed on his short stature by auxological, biochemical and molecular studies. Height of the patient and his family members were measured and compared to normal control. Serum concentrations of GH, IGF-1 and IGF-binding protein 3 (IGFBP3) in the patient were measured during a GH stimulation test. We examined the GHR gene in the patient and his parents. Genomic DNA and mRNA of the GHR gene were extracted from peripheral lymphocytes. All the exons and the flanking regions of the GHR gene were amplified by PCR, and directly sequenced. The patient's height was 75 cm (-2.89 SDS) with gradually reducing growth velocity, while the heights of the other family members were within the normal range. The GH stimulation test revealed that serum GH concentrations in the patient were much higher than those in the control group, and serum IGF-1 and IGFBP3 levels were extremely low. There was no germline mutation in the exons or the flanking regions of the patient's GHR gene. Interestingly, a deletion of 166 bases of exon 7 in the GHR mRNA was found, and it was suggested that the novel mutation resulted in premature termination (M207 fs. X8). This mutation decreases GH binding affinity to the GHR, and, thus, would be responsible for growth retardation.

This study examined the characteristics of arsenate adsorption on poorly crystalline oxide (PCAO) which was obtained from recycling of dry sanding powders (DSP) produced during sanding and sawing process in a decorative interior company. After calcinating DSP at 550°C, poorly crystalline oxide (PCAO) was obtained as an adsorbent. From the batch adsorption experiments, arsenate was completely removed up to the concentration of 10 mg/L by PCAO. The stability of PCAO as an adsorbent was evaluated at pH 7 and found that the arsenate adsorbed on PCAO was stable for 24 h. The predominant interaction between arsenate and PCAO was thought to be a strong chemical bond by spectroscopic analysis. The arsenate adsorption behavior onto PCAO was satisfactorily simulated with MINEQL+, suggesting that arsenate formed inner-sphere complexes with the surface of PCAO by chemisorption. Meanwhile, the presence of competitive anions such as PO(4) (3-), SO(4) (2-) and CO(3) (2-) decreased somewhat the removal efficiency of arsenate and the effects of competing anions on the adsorption of arsenate were in the order of PO(4) (3-) > SO(4) (2-) > CO(3) (2-) under pH 6. The application of PCAO to the real mine drainage was also carried out. Although the adsorption of arsenic on the PCAO was slightly decreased rather than that removed from synthetic wastewater due to competitive sorption by multiple ions, it was possible to meet the national discharge standard limit with increasing adsorbent concentration.