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A 14-year-old boy was admitted to our hospital after being diagnosed at a local clinic with bilateral carotid artery stenoses (Moyamoya disease) and mild thyrotoxicosis. A blood examination showed suppressed TSH and elevated triiodothyronine and thyroxine levels; however, he was negative for anti-thyrotropin receptor antibody (TRAB) and thyroid stimulating antibody (TSAB). Concern about a possible thyroid crisis led us to administer thiamazole (MMI) and potassium iodide (KI), following which encephalo-duro-arterio-synangiosis (EDAS) of the left side was performed successfully. After about 1 mo, he became positive for TRAB and TSAB. He was thought to have Graves’ disease and Moyamoya disease coincidentally. Several factors are considered to be involved in the coincidental onset of these two diseases.

Electron tomography and 3D modeling identifies augmin-dependent connections between the wall of one microtubule and the minus end of a neighboring one in the spindle., The formation of a functional spindle requires microtubule (MT) nucleation from within the spindle, which depends on augmin. How augmin contributes to MT formation and organization is not known because augmin-dependent MTs have never been specifically visualized. In this paper, we identify augmin-dependent MTs and their connections to other MTs by electron tomography and 3D modeling. In metaphase spindles of human cells, the minus ends of MTs were located both around the centriole and in the body of the spindle. When augmin was knocked down, the latter population of MTs was significantly reduced. In control cells, we identified connections between the wall of one MT and the minus end of a neighboring MT. Interestingly, the connected MTs were nearly parallel, unlike other examples of end–wall connections between cytoskeletal polymers. Our observations support the concept of augmin-dependent MT nucleation at the walls of existing spindle MTs. Furthermore, they suggest a mechanism for maintaining polarized MT organization, even when noncentrosomal MT initiation is widespread.

Psychosocial stress is generally associated with adverse health behaviors and has been linked to the development of cardiovascular diseases (CVD). Recently, an individual's sense of coherence (SOC), which is a concept that reflects the ability to cope with psychosocial stress, has been recognized as an essential component of long-term health and stress management. The association between SOC and traditional and alternative atherosclerotic markers in a community sample, however, has not been thoroughly investigated. In the present study, we evaluated stress management capability and psychological conditions using the Japanese version of the Sense of Coherence-13 (SOC-13) Scale, supplemented by the General Health Questionnaire-12 (GHQ-12) that screens for minor psychiatric disorders. The study subjects were 511 adults, median age 64 years (range 48-70), who participated in a regular medical screening program in Nagasaki Prefecture, Japan. We then correlated our findings with atherosclerotic risk factors in the same community sample, such as body mass index (BMI) and proper and regular sleeping habits. We found that close association between good stress management capability and lower BMI and/or regular sleeping habits in elderly Japanese. This provides strong evidence that BMI and sleep management are contributory to SOC. If the ability to cope with psychosocial stress is important to the prevention of CVD, then weight control and proper sleep habits must be emphasized from a psychosocial stress-management perspective as well as a physical one.

POU class 1 homeobox 1 (POU1F1) regulates pituitary cell-specific gene expression of somatotropes, lactotropes, and thyrotropes. In humans, two POU1F1 isoforms (long and short isoform), which are generated by the alternative use of the splice acceptor site for exon 2, have been identified. To date, more than 30 POU1F1 mutations in patients with combined pituitary hormone deficiency (CPHD) have been described. All POU1F1 variants reported to date affect both the short and long isoforms of the POU1F1 protein; therefore, it is unclear at present whether a decrease in the function of only one of these two isoforms is sufficient for disease onset in humans. Here, we described a sibling case of CPHD carrying a heterozygous mutation in intron 1 of POU1F1. In vitro experiments showed that this mutation resulted in exon 2-skipping of only in the short isoform of POU1F1, while the long isoform remained intact. This result strongly suggests the possibility, for the first time, that isolated mutations in the short isoform of POU1F1 could be sufficient for induction of POU1F1-related CPHD. This finding improves our understanding of the molecular mechanisms, and developmental course associated with mutations in POU1F1.

We investigated thyroid function and urinary iodine concentration (UIC) in seven patients with severe motor intellectual disabilities. All seven received total enteral nutrition (TEN) for more than three years with a daily iodine intake of less than 20 µg. They were diagnosed as hypothyroidism due to iodine deficiency (HID) because of high TSH levels (7.6–82.3 µIU/ml), lower free T4 (FT4 0.4–1.5 ng/dl), negative anti-thyroid antibodies (anti-thyroglobulin antibody, anti-thyroidal peroxidase antibody) and extremely low UIC (

Noonan syndrome is an autosomal dominant disease characterized by dysmorphic features, webbed neck, cardiac anomalies, short stature and cryptorchidism. It shows phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Noonan syndrome and related disorders are caused by germline mutations in genes encoding molecules in the RAS/MAPK pathway. Recently, a gain-of-function mutation in SHOC2, p.S2G, has been identified as causative for a type of Noonan-like syndrome characterized by the presence of loose anagen hair. In order to understand the contribution of SHOC2 mutations to the clinical manifestations of Noonan syndrome and related disorders, we analyzed SHOC2 in 92 patients with Noonan syndrome and related disorders who did not exhibit PTPN11, KRAS, HRAS, BRAF, MAP2K1/2, SOS1 or RAF1 mutations. We found the previously identified p.S2G mutation in eight of our patients. We developed a rapid detection system to identify the p.S2G mutation using melting curve analysis, which will be a useful tool to screen for the apparently common mutation. All the patients with the p.S2G mutation showed short stature, sparse hair and atopic skin. Six of the mutation-positive patients showed severe mental retardation and easily pluckable hair, and one showed leukocytosis. No SHOC2 mutations were identified in leukemia cells from 82 leukemia patients. These results suggest that clinical manifestations in SHOC2 mutation-positive patients partially overlap with those in patients with typical Noonan or CFC syndrome and show that easily pluckable/loose anagen hair is distinctive in SHOC2 mutation-positive patients. Journal of Human Genetics (2010) 55, 801-809; doi:10.1038/jhg.2010.116; published online 30 September 2010

Dentigerous cysts (DCs) are common cysts of the jaws and usually easy to be treated when small. However, extensive cysts involving three or more teeth are difficult to be managed. The purpose of this case report was to describe the management of an extensive DC in a child. The treatment instituted was the marsupialization with the extraction of the involved deciduous teeth. This treatment allowed rapid healing of the lesion and eruption of the permanent teeth with minimum orthodontic therapy.

To clarify the formation of the alloy layers formed on stainless steels during high temperature aluminizing at 900°C in air and the wear properties of the aluminized stainless steels, the abrasive wear tests for 18Cr–8Ni steel, 16Cr steel and 13Cr steel were performed. Observed voids in the alloy layers of stainless steels were less than that of carbon steel. The thicknesses of alloy layers formed during high temperature aluminizing were large in the order of 13Cr steel, 16Cr steel and 18Cr–8Ni steel. The alloy layers of stainless steels aluminized at 900°C for 3 h were consisted of four layers. The FeAl layer tended to have the highest abrasive wear resistance in four layers. The abrasive wear resistance of this layer tended to increase as the content of Cr increased. The abrasive wear resistance of the alloy layers, having the hardness HV 500, tended to decrease as the hardness increases because of the brittle fracture of the alloy layers.

Guided bone regeneration is one of the most effective methods to induce osseous regeneration. We assessed the clinical and histopathological features of guided bone regeneration using nonabsorbable membrane in the wound resulting from human tooth extraction. Forty days after the tooth extraction and wound repair, the wound was in the late granulation tissue stage with newly formed trabecular bone where an implant could be placed. Conclusively, it was revealed that polytetrafluoroethylene membrane could be applied for the repair of a wound resulting from tooth extraction with reduced height and width of bone.

Conformational analysis of three types of pamidronate/calcium (Ca) complex model was performed using a molecular mechanics method with a standard MM3 force field. Three types of pamidronate/Ca-complexes were designed. Namely, one calcium atom was connected to two oxygen atoms of different P-O bonds [Ca-complex (I)], one calcium atom was connected to two oxygen atoms of the same P-O bond at one end of the molecule [Ca-complex (II)], and one calcium atom was connected to two oxygen atoms of the same P-O bond at both ends of the molecule [Ca-complex (III)]. Three-dimensional imaging clearly showed the steric conformation of each compound. Ca-complex (I) showed the lowest steric energy and Ca-complex (III) showed the highest steric energy among the three types of Ca-complexes. The Ca-O bond lengths of Ca-complexes (II) and (III) were shorter than that of Ca-complex (I). The P-O bond lengths of Ca-complexes (II) and (III) were longer than that of Ca-complex (I). The O-Ca-O dihedral angles of Ca-complexes (II) and (III) decreased approximately 30% from that of Ca-complex (I). These data suggested that the Ca-complex (I) was most stable and that the structure of Ca-complex (I) had the highest possibility when pamidronate reacted with a calcium atom. The structure of Ca-complex (III) has the lowest possibility. The present results revealed the stable structures of Ca-complexes using molecular mechanics calculations, a useful tool for obtaining geometrical information about molecules.

The contractile ring, which is required for cytokinesis in animal and yeast cells, consists mainly of actin filaments. Here, we investigate the directionality of the filaments in fission yeast using myosin S1 decoration and electron microscopy. The contractile ring is composed of around 1,000 to 2,000 filaments each around 0.6 μm in length. During the early stages of cytokinesis, the ring consists of two semicircular populations of parallel filaments of opposite directionality. At later stages, before contraction, the ring filaments show mixed directionality. We consider that the ring is initially assembled from a single site in the division plane and that filaments subsequently rearrange before contraction initiates.

Amelogenin is a novel enamel matrix protein. Knockout mice showed enhanced osteoclast formation and resorption of tooth cementum. This study investigated the effects of amelogenin on osteoclastogenesis. In co-cultures with calvaria osteoblasts and purified bone marrow cells, amelogenin inhibited osteoclastogenesis dramatically. Furthermore, amelogenin inhibited the expression of receptor activator of nuclear factor kappaB ligand (RANKL), macrophage-colony stimulating factor (M-CSF) and fibronectin in osteoblasts, while RANKL expression was induced by fibronectin and inhibited by treatment with fibronectin small interfering RNA. These results suggest that the inhibitory effects of amelogenin on osteoclastogenesis lead to downregulation of RANKL, M-CSF and fibronectin production in osteoblasts.

Three-body abrasion of softwood and hardwood was performed by rubbing the wood with different sizes of abrasive grain. The effect of microscopic tissue in a cellular solid, such as wood, on three-body abrasion was investigated. We found the following abrasion properties. The wear rate after rubbing perpendicularly to the fiber and annual ring tended to be larger than the wear rate after rubbing in parallel. Also, this abrasion property particularly affected fiber with a different direction for each surface and an annual ring with a cell wall of a different thickness. When hardwood was rubbed with a particular grain size, there was a maximum peak at which the wear rate increased irregularly, and this dependence on the abrasive grain size was different from that of softwood. The peculiar dependence on the abrasive grain size corresponds to the value of the vessel cell size, and a highly positive correlation was observed between the abrasive grain size and vessel cell size.

The dental management of an 8-year-old girl with osteopathia striata with cranial sclerosis (OS-CS) is described. The girl presented with various oral abnormalities. The aim of this case report was to describe in detail the dental findings in a patient with OC-CS and the precautions to be taken when planning treatment. In the present case, many dental anomalies, such as delayed eruption of the permanent teeth, obliteration of the dental pulp, short roots, fused roots and taurodontism, were detected. In patients with OS-CS, routine dental care from an early stage is recommended to manage this anomaly properly.

Laminin alpha2 is subunit of laminin-2 (alpha2beta1gamma1), which is a major component of the muscle basement membrane. Although the laminin alpha2 chain is expressed in the early stage of dental mesenchyme development and localized in the tooth germ basement membrane, its expression pattern in the late stage of tooth germ development and molecular roles are not clearly understood. We analyzed the role of laminin alpha2 in tooth development by using targeted mice with a disrupted lama2 gene. Laminin alpha2 is expressed in dental mesenchymal cells, especially in odontoblasts and during the maturation stage of ameloblasts, but not in the pre-secretory or secretory stages of ameloblasts. Lama2 mutant mice have thin dentin and a widely opened dentinal tube, as compared with wild-type and heterozygote mice, which is similar to the phenotype of dentinogenesis imperfecta. During dentin formation, the expression of dentin sialoprotein, a marker of odontoblast differentiation, was found to be decreased in odontoblasts from mutant mice. Furthermore, in primary cultures of dental mesenchymal cells, dentin matrix protein, and dentin sialophosphoprotein, mRNA expression was increased in laminin-2 coated dishes but not in those coated with other matrices, fibronectin, or type I collagen. Our results suggest that laminin alpha2 is essential for odontoblast differentiation and regulates the expression of dentin matrix proteins.

A three-body abrasion test with a loose abrasive grain scattered on a variety of plastic counterface materials is conducted for Cercidiphyllum japonicum wood (katsura wood). The effect of the counterface material in rubbing with the katsura wood is investigated. The results show that a peak wear coefficient exists for the axial, tangential and radial sections of the katsura wood specimen when rubbed with a counterface material. The peak in the wear coefficient is also recognized in the plastic specimen experiments. The peaks in three-body abrasion experiments for both the katsura wood and plastic specimens are closely related to the variable of material yield stress. The peak on katsura wood specimen occurs when the yield stress of the counterface material is approximately twice as large as that of katsura wood, and the peak on the plastic specimen occurs when the yield stress of the counterface material is approximately the same as that of the specimen. The difference in the results between the katsura wood and plastic material could appear to be due to the change in embedding balance of the loose abrasive grain, which is likely affected by the porous wood structure.

The contrasts of scanning ion microscope images (Ga+ ion) at 30 keV are compared to those of scanning electron microscope images at 30 keV. Remarkable differences are observed in the surface sensitivity, crystal orientation, and atomic number effects of target material. The examples are shown by the secondary electron images and the origins of those differences are discussed on the basis of the different interactions of those particles with solid.

The abrasion characteristics of various combinations of wood and counterface materials in three-body abrasive wear were investigated. Various wood samples were examined in combination with wood, plastic, and metal counterface materials. The wear coefficient in the wood samples was calculated as the wear volume of the friction surface divided by the sliding distance and the applied load. The results showed that the wear coefficient was smaller in cases where the wood samples had greater yield stress. The wear coefficient increased as the yield stress of the various counterface materials increased, reaching a maximum value and then decreased as the yield stress increased. This result indicated that a peak value existed for the wear coefficient in combination with the counterface material.

Lead has serious influences on the human body, and lead release from water supply lead pipe into tap water becomes one of the serious problems. The regulations for lead concentration in tap water have gradually become stricter, and will likely be even more stringent in the future.As one of the methods for dealing with the problem of lead water supply pipes prudently, the authors took notice of the electrochemical surface reforming method, and the modification of the lead surface was tried using the repetition technique of the anode-cathode alternate potential sweep. A phase-mixed modified layer, which consists of lead carbonate, lead hydroxide, lead monoxide and lead dioxide, was formed by electrolysis using alkaline electrolyte including carbonate ions. With this modified surface layer, it was possible to suppress the elution amount of lead to about 25 % of that of untreated lead.

A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.

The genetic variability of 125 respiratory syncytial virus (RSV) subgroup A isolates over 15 successive epidemics from 1980 to 1995 in an urban population of Japan was determined. Allocation of isolates into lineages was archived by reverse transcriptase-polymerase chain reaction amplification of selected regions of the nucleoprotein (NP) and attachment (G) protein gene followed by restriction fragment length polymorphism (RFLP) analysis. Three and seven distinct restriction patterns of the NP and G gene were observed, respectively. When the NP and G gene RFLP analyses were combined, ten different genetic lineages were identified in the 125 isolates. The strains with the same genotype were isolated in each epidemic and the dominant lineages were replaced by others after every one to three consecutive epidemics. Nucleotide and amino acid sequencing of the variable region of G gene of these predominant isolates revealed differences of 5–28% between strains. There was, however, no apparent accumulation of diversity with age to indicate progressive changes. The dominant strains were often closely related to those isolated in other parts of the world at a similar time. These observations suggest that dominant RSV strains are replaced frequently by others that have been co-circulating or have recently entered the community from a worldwide reservoir. The change of dominant strains may be influenced by the buildup of immunological resistance in the community to successive epidemics of the same strain. J. Med. Virol. 64:374–380, 2001. © 2001 Wiley-Liss, Inc.

An S4-allele-associated protein (S4-protein) was identified by both isoelectricfocusing (IEF) polyacrylamide-gel electrophoresis and N-terminal amino-acid sequences in self-incompatible Nijisseiki (self-in- compatibility genotype=S2S4) and self-compatible Osa-Nijisseiki (S2S4 SM, SM=stylar-part mutant) styles of the Japanese pear, Pyrus serotina Rehd. var. culta Rehd. Expression of the protein in the cultivars was compared during flower bud development and at post-transcriptional levels. In mature styles, S4-protein could be detected on IEF gel in both cultivars and the N-terminal amino acid sequences were identical, although Osa-Nijisseiki contained only one-third the amount contained in Nijisseiki. No difference was observed in S2-protien amounts. In Nijisseiki styles, S4-protein was already detectable 8 days before anthesis (DBA) and it was synthesized consistently until 2 days after anthesis (DAA); the amount increased 4.7-fold during these 10 days. In contrast, S4-protein in Osa-Nijisseiki was not detected earlier than 6 DBA; a small amount was found at 4 DBA, and it increased gradually as flowers developed. Thus, expression of Osa-Nijisseiki S4-protein is developmentally controlled in the same way as that of Nijisseiki S4-protein, but with a time lag of several days; the protein level at 2 DAA corresponded to that of Nijisseiki earlier than 4 DBA. S4-proteins from both Nijisseiki and Osa- Nijisseiki showed RNase activity and the activity was also developmentally controlled; it increased about fourfold during the interval from 8 DBA to 2 DAA in Nijisseiki, and 3.3-fold during the interval from 4 DBA to 2 DAA in Osa-Nijisseiki. Activity at 2 DAA, however, was twice as high in Nijisseiki. In vitro protein synthesis showed that poly(A)+ from mature Osa-Nijisseiki styles could form S4-like protein in a manner similar to that of Nijisseiki. These results suggest that the self-compatibility of Osa-Nijisseiki is due to a low level of S4-protein expression, a mechanism very similar to the low level of S-protein and weak incompatibility in immature styles of self-incompatible Nijisseiki. Part of this protein repression may be regulated during post-transcriptional events.

Hydrogen storage alloys exhibit reversible high-rate hydrogen absorption and desorption reactions. The hydrogen storage density of the alloys is higher than that liquid H2. The exposure of the alloys to impurity gases such as O2, CO, CO2, and H2O readily reduces reactivity with H2 gas. In this study, the surface of LaNi5-xAlx alloy was treated using anhydrous hydrogen fluoride to examine the effect of CO on fluorinated alloy H2 reactivity. This HF treatment effectively reduced alloy surface poisoning by CO. Compared with the initial transfer, the HF-treated alloy still exhibited 80% hydrogen transfer after 100-cycle hydriding-dehydriding reactions in a H2 gas including 1000ppm CO, while the transfer became zero for untreated alloy after five hydriding-dehydriding cycles. AES analysis of HF-treated samples showed that the HF treatment induced the surface segregation of Ni and F atoms where almost no La atoms was detected. The concentration of La atoms was found to increase with depth, in which a mixed region of La, Ni, Al, F, and O atoms was formed. This fluorinated surface layer seems to function both to prevent surface CO poisoning and to act as a catalyst.

Hydriding characteristics of LaNi4.7Al0.3 alloys with surfaces modified by high-purity anhydrous HF were evaluated after long-term preservation in air. Affected by poisoning species in air, untreated alloy hydriding activity was enormously decreased. HF-treated alloys with a modified surface layer containing metal fluoride NiF2, LaF3 and AlF3 maintained relatively high activity. In high-humidity air, metal fluoride NiF2 reacted with moisture to form hydrous Ni(OH)2, and permeation of poisonous species such as O2, CO and CO2 was markedly inhibited by moisture-condensed hydrate screens.