A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels Abstract Thyroglobulin abnormality is a rare cause of congenital hypothyroidism and only a limited number of mutations in the thyroglobulin gene have been reported. We analyzed the thyroglobulin gene in a patient with congenital goitrous hypothyroidism. This girl was identified with hyperthyrotropinemia in a neonatal mass-screening test. The patient had goiter, and her body weight gain was poor. Distal femoral epiphysis was absent on roentgenography. Her serum thyroxine level was low; however, her triiodothyronine level was high. Autoantibodies against triiodothyronine, thyroid peroxidase, and thyroglobulin were all negative. Her serum thyroglobulin level was undetectable. The thyroglobulin gene from the genomic DNA of the patient was analyzed by direct sequencing. Two novel heterozygous missense mutations, Cys1897Tyr (exon 31) and Arg2336Gln (exon 40), were found in the patient. The former mutation was derived from her mother, suggesting a compound heterozygous state. Normal triiodothyronine and low thyroxine concentrations are often observed in patients with thyroglobulin gene mutations. We considered that some patients with thyroglobulin abnormality might have high triiodothyronine levels. In cases of congenital goitrous hypothyroidism with normalto-high triiodothyronine levels and low serum thyroglobulin levels, thyroglobulin abnormality should be considered.

Abstract:In order to understand the adsorption preferences of extracellular polymeric substances (EPS) components derived from fungus Saccharomyces cerevisiae on sparingly soluble CeO 2 nanoparticles (CeNPs), the adsorption experiments of the EPS including organic matter with low molecular weight have been performed at pH 6.0 at room temperature (25 ± 1 • C). The subsequent effects of the coating on the dispersibility of CeNPs was systematically measured as a function of time and ionic strength ranging from 1 to 1000 mmol L −1 . Among the EPS and other components, orthophosphate and saccharides preferentially adsorb onto CeNPs, and proteins are the only major N-compounds adsorbing onto the CeNP surfaces. Adsorption of orthophosphate resulted in a dramatic decrease in ζ potential to −40 mV at pH > 5, whereas the EPS adsorption suppressed the deviation of ζ potential within a narrow range (−20-+20 mV) at pHs ranging from 3 to 11. Critical aggregation concentrations (CAC) of an electrolyte (NaCl), inorganic orthophosphate, and EPS solutions are 0.01, 0.14, and 0.25 mol L −1 , respectively, indicating that the EPS adsorption suppresses aggregation of CeNPs by the electrostatic repulsive forces derived from the adsorbed orthophosphate and the steric barrier formed by organic matter on the nanoparticle surfaces. Therefore, the EPS derived from fungus S. cerevisiae can potentially enhance colloidal dispersibility of CeNPs at circumneutral pH.

No abstract

No abstract

The purpose of this research is to understand of actual conditions for guided tour using sign language through comparison of vocal guided tour construction using Ise-Jingu Naiku as a case study and get knowledge toward promotion universal tourism. In this research, the following three points were cleared. 1) There are few organizations conducted guided tour using sign language. They have issues that guides' sign language skills are not same. And they have to be concerned about view. 2) The number of topics in guided tour using sign language are fewer than vocal guided tour and categories are more biased. 3) If target of guided tour is same, there are differences between voice and sign language, like routes, stoppoints, provision-point of information. In view of the above, it was shown issues of guided tour using sign language from the viewpoint of deaf support systems.