Identification of missense mutations and haplotyping of carnitine palmitoyltransferase II gene

Carnitine palmitoyltransferase II(CPTII) deficiency manifests as two different clinical phenotypes: an adult form associated with muscular symptoms and an infantile form presenting with hepatocardiomuscular manifestations. We have investigated three Japanese patients with CPT II deficiency. Molecular analysis revealed two novel missense mutations, a glutamate (174)-to-lyine substitution (E174K) and a phenylalanine (383)-to-tyrosine substitution (F383Y) in the CPTII cDNA. Transfection experiments demonstrated that the two mutations reduced CPTII catalytic activity. We also identified a novel polymorphism in the CPTII gene, a phenylalanine (352)-to-cysteine substitution (F352C). According to an expression analysis this mutation did not alter CPTII activity. It was present in 21 out of 100 normal alleles in the Japanese population, but was not observed among Caucasians. Genotyping with the F352C polymorphism and the previously reported polymorphisms V368I and M647V allowed normal alleles to be classified into five haplotypes. In all three families, the E174K mutation resided only on F1V1M1 allele, while the F383Y mutation was observed on F2V2M1 allele, suggesting a single origin of each mutation.     

Chemical modification of nylon 6 and polyester fabrics by ozone‐gas treatment

In a previous article, we reported on the ozone‐gas treatment of wool and silk fabrics in relation to the gas‐phase processing of textile fabrics. The treatment incorporated an oxygen element into the fiber surface and contributed to an increase in water penetration into the fabric. In this study, nylon 6 and polyester fabrics were treated with ozone gas in the same way as that of the wool and silk fabrics. The treatment incorporated much more oxygen into the fiber surface in the form of ? COH and ? COOH, as shown by electron spectroscopy for chemical analysis. Water penetration increased considerably with treatment, and the apparent dyeing rate and equilibrium dye uptake were also improved, especially for the polyester fabric, despite an increase in the crystallinity. Therefore, it seemed that the treatment brought about a change not only in the fiber surface but also in the internal structure of the fibers (the crystalline and amorphous regions) with regard to the dyeing behavior. Further, the mechanical characteristics of the ozone‐gas‐treated polyester and nylon 6 fabrics were measured with a Kawabata evaluation system apparatus. The shearing modulus and hysteresis widths increased with treatment, especially for the polyester fabric. Therefore, it was clear that the treatment caused a change in the fabric hand to crisp. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1344–1348, 2006     

Crystal structures of 3-isopropylmalate dehydrogenases with mutations at the C-terminus: crystallographic analyses of structure-stability relationships

Thermal stability of the Thermus thermophilus isopropylmalatedehydrogenase enzyme was substantially lost upon the deletionof three residues from the C-terminus. However, the stabilitywas partly recovered by the addition of two, four and sevenamino acid residues (called HD177, HD708 and HD711, respectively)to the C-terminal region of the truncated enzyme. Three structuresof these mutant enzymes were determined by an X-ray diffractionmethod. All protein crystals belong to space group P2₁ and theirstructures were solved by a standard molecular replacement methodwhere the original dimer structure of the A172L mutant was usedas a search model. Thermal stability of these mutant enzymesis discussed based on the 3D structure with special attentionto the width of the active-site groove and the minor groove,distortion of ß-sheet pillar structure and size of cavityin the domain–domain interface around the C-terminus.Our previous studies revealed that the thermal stability ofisopropylmalate dehydrogenase increases when the active-sitecleft is closed (the closed form). In the present study it isshown that the active-site cleft can be regulated by open–closemovement of the minor groove located at the opposite side tothe active-site groove on the same subunit, through a paperclip-likemotion.     

High-dose rate intracavitary radiation therapy for advanced head and neck tumors

Fifty-seven treatments were performed on 27 head and neck pateints with recurrent or residual tumors on a high dose rate, remote controlled afterloading unit: There were 16 cases of maxillary sinus tumors, 6 epipharynx, 3 alveolar ridge, 1 hard palate and 1 floor of mouth. All patients have been followed up more than 2 years except one. Five patients are alive without local recurrence for more than 2 years. In 13 patients local tumors disappeared once and normal mucosa covered the tumor sites. Two patients died from local bleeding. In six patients this method failed to destroy tumors. Our prupose was palliative local control: therefore, in two-thirds of cases treated we were successful with this easy method of nonfractionated acute intracavitary radiation. This result is favorable, considering that all cases treated here were failures following full dose external radiation, although the treatment had to be repeated more than twice in 15 cases. Relief of symptoms is excellent when this therapy is used.     

The effect of obesity on plasma triglycerides and fasting plasma IRI levels. Significance of insulinogenic index and glucose tolerance

Three groups of 50 heavy feedlot steers were treated with 1 of 3 anthelmintics (haloxon, tramisol, or thiabendazole). One group of 50 steers was not treated and served as a control. The initial degree of infection with gastrointestinal nematodes was light and decreased during the course of the study. There were no significant differences in weight gains among any of the groups at the end of a 113-day feeding period.     

Ammonia‐gas and liquid ammonia treatments of silk fabric

Silk fabric, Habutae, was treated with 100% ammonia‐gas under atmospheric pressure and at pressures of 2, 4, and 6 kgf/cm², and with liquid ammonia at ?33°C. The effects of the treatment were investigated on the basis of the X‐ray diffraction, DSC thermogram, moisture regain, water absorption, dyeing property, and mechanical property of the fabric. Crystallinity and equilibrium dye uptake were increased apparently by the liquid ammonia treatment, whereas effect of the ammonia‐gas treatment was less than the liquid ammonia treatment. KES (Kawabata Evaluation System) shearing, bending, and tensile parameters were obtained. The modulus G, B, and hysteresis widths 2HG, 2HG5, and 2HB were decreased with the ammonia‐gas treatment. On the contrary, the liquid ammonia treatment increased the parameters considerably. Therefore, it seemed that the ammonia‐gas treatment is effective in enhancing the soft hand of the silk fabric. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 101: 3487–3492, 2006     

Multi-parametric profiling network based on gene expression and phenotype data: a novel approach to developmental neurotoxicity testing

The establishment of more efficient approaches for developmental neurotoxicity testing (DNT) has been an emerging issue for children's environmental health. Here we describe a systematic approach for DNT using the neuronal differentiation of mouse embryonic stem cells (mESCs) as a model of fetal programming. During embryoid body (EB) formation, mESCs were exposed to 12 chemicals for 24 h and then global gene expression profiling was performed using whole genome microarray analysis. Gene expression signatures for seven kinds of gene sets related to neuronal development and neuronal diseases were selected for further analysis. At the later stages of neuronal cell differentiation from EBs, neuronal phenotypic parameters were determined using a high-content image analyzer. Bayesian network analysis was then performed based on global gene expression and neuronal phenotypic data to generate comprehensive networks with a linkage between early events and later effects. Furthermore, the probability distribution values for the strength of the linkage between parameters in each network was calculated and then used in principal component analysis. The characterization of chemicals according to their neurotoxic potential reveals that the multi-parametric analysis based on phenotype and gene expression profiling during neuronal differentiation of mESCs can provide a useful tool to monitor fetal programming and to predict developmentally neurotoxic compounds.