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Patients with erythrokeratodermia cardiomyopathy syndrome exhibit congenital, generalised erythrokeratoderma and dilated cardiomyopathy during early childhood. We report a case of erythrokeratodermia cardiomyopathy syndrome in a 15-year-old male patient and focus this report on cardiac features that were present.
To examine the relationship between cerebrospinal fluid (CSF) biomarkers of Alzheimer’s disease (AD) and tap test response to elucidate the effects of comorbidity of AD in idiopathic normal-pressure hydrocephalus (iNPH).
Osaka University Hospital.
Patients with possible iNPH underwent a CSF tap test.
Concentrations of amyloid beta (Aβ) 1–40, 1–42, and total tau in CSF were measured. The response of tap test was judged using Timed Up and Go test (TUG), 10-m reciprocation walking test (10MWT), Mini-Mental State Examination (MMSE), and iNPH grading scale. The ratio of Aβ1–42 to Aβ1–40 (Aβ42/40 ratio) and total tau concentration was compared between tap test-negative (iNPH-nTT) and -positive (iNPH-pTT) patients.
We identified 27 patients as iNPH-nTT and 81 as iNPH-pTT. Aβ42/40 ratio was significantly lower (mean [SD] = 0.063 [0.026] vs. 0.083 [0.036], p = 0.008), and total tau in CSF was significantly higher (mean [SD] = 385.6 [237.2] vs. 293.6 [165.0], p = 0.028) in iNPH-nTT than in iNPH-pTT. Stepwise logistic regression analysis revealed that low Aβ42/40 ratio was significantly associated with the negativity of the tap test. The response of cognition was significantly related to Aβ42/40 ratio. The association between Aβ42/40 ratio and tap test response, especially in cognition, remained after adjusting for disease duration and severity at baseline.
A low CSF Aβ42/40 ratio is associated with a poorer cognitive response, but not gait and urinary response, to a tap test in iNPH. Even if CSF biomarkers suggest AD comorbidity, treatment with iNPH may be effective for gait and urinary dysfunction.
Differences in individual eating habits may be influenced by genetic factors, in addition to cultural, social or environmental factors. Previous studies suggested that genetic variants within sweet taste receptor genes family were associated with sweet taste perception and the intake of sweet foods. The aim of this study was to conduct a genome-wide association study (GWAS) to find genetic variations that affect confection consumption in a Japanese population. We analysed GWAS data on confection consumption using 14 073 participants from the Japan Multi-Institutional Collaborative Cohort study. We used a semi-quantitative FFQ to estimate food intake that was validated previously. Association of the imputed variants with confection consumption was performed by linear regression analysis with adjustments for age, sex, total energy intake and principal component analysis components 1–3. Furthermore, the analysis was repeated adjusting for alcohol intake (g/d) in addition to the above-described variables. We found 418 SNP located in 12q24 that were associated with confection consumption. SNP with the ten lowest P-values were located on nine genes including at the BRAP, ACAD10 and aldehyde dehydrogenase 2 regions on 12q24.12-13. After adjustment for alcohol intake, no variant was associated with confections intake with genome-wide significance. In conclusion, we found a significant number of SNP located on 12q24 genes that were associated with confections intake before adjustment for alcohol intake. However, all of them lost statistical significance after adjustment for alcohol intake.
The current study aimed to predict disability-adjusted life years (DALY) rate in Japan through 2040 with plausible future scenarios of fruit intake for neoplasms, cardiovascular diseases (CVD) and diabetes and kidney diseases (DKD).
Data from National Health and Nutrition Surveys and the Global Burden of Diseases study in 2017 were used. We developed an autoregressive integrated moving average model with four future scenarios. Reference scenario maintains the current trend. Best scenario assumes that the goal defined in Health Japan 21 is achieved in 2023 and is kept constant afterwards. Moderate scenario assumes that the goal is achieved in 2040. Constant scenario applies the same proportion of 2016 for the period between 2017 and 2040.
DALY rates in Japan were predicted for the period between 2017 and 2040.
Population aged more than than 20 years old.
In our reference forecast, the DALY rates in all-ages group were projected to be stable for CVD and continue increasing for neoplasms and DKD. Age group-specific DALY rates for these three disease groups were forecasted to decrease, with some exceptions. Among men aged 20–49 years, DALY attributable to CVD differed substantially between the scenarios, implying that there is a significant potential for reducing the burden of CVD by increasing fruit intake at the population level.
Our scenario analysis shows that higher fruit intake is associated with lower disease burden in Japan. Further research is required to assess which policies and interventions can be used to achieve an increase in fruit intake as modelled in the scenarios of the current study.
We report fourteen and twenty-eight protocluster candidates at z = 5.7 and 6.6 over 14 and 19 deg2 areas, respectively, selected from 2,230 Lyα emitters (LAEs) photometrically identified with Subaru/Hyper Suprime-Cam (HSC) deep images. Six out of the 42 protocluster candidates include at least 1 spectroscopically confirmed LAEs at redshifts up to z = 6.574. By the comparisons with the cosmological Lyα radiative transfer (RT) model reproducing LAEs with the reionization effects, we find that more than a half of these protocluster candidates might be progenitors of the present-day clusters with a mass of ≳ 1014M⊙. We also investigate the correlation between LAE overdensity and Lya rest-frame equivalent width (EW), because the cosmological Lyα RT model suggests that a slope of EW-overdensity relation is steepened towards the epoch of cosmic reionization (EoR), due to the existence of the ionized bubbles around galaxy overdensities easing the escape of Lyα emission from the partly neutral intergalactic medium. The available HSC data suggest that the slope of the EW-overdensity correlation does not evolve from the post-reionization epoch z = 5.7 to the EoR z = 6.6 beyond the moderately large statistical errors.
Although higher circulating levels of oestrogen are related to postmenopausal breast cancer risk, limited information is available regarding effects of diet on endogenous oestrogen. Thus, we examined associations between macronutrient intakes and serum oestrogen with consideration of polymorphisms in oestrogen-metabolising genes. In this cross-sectional study, 784 naturally menopaused Japanese women aged 47–69 years were selected from participants of the Japan Multi-Institutional Collaborative Cohort Study. We documented dietary intakes, measured serum concentrations of oestrone (E1) and oestradiol (E2) and genotyped polymorphisms in oestrogen-metabolising CYP19A1 (rs4441215 and rs936306) and HSD17B1 (rs605059) genes. Trends and interactions were examined using linear regression models. In addition, we calculated the ratios of the oestrogen concentrations of the second to the highest quartiles (Q2–Q4) of dietary intake to those of the lowest quartiles (Q1). After adjustment for potential confounders, E2 was significantly associated with intake of carbohydrate and noodles; ratios of Q4 v. Q1 were 1·15 (95 % CI 1·04, 1·28) and 1·15 (95 % CI 1·04, 1·26), respectively. In contrast, E2 levels were inversely associated with intake of total energy, SFA and n-3 highly unsaturated fatty acids (n-3 HUFA); ratios of Q4 v. Q1 were 0·90 (95 % CI 0·82, 0·99), 0·89 (95 % CI 0·81, 0·98) and 0·91 (95 % CI 0·83, 1·00), respectively. In stratified analysis by polymorphisms, the rs605059 genotype of HSD17B1 significantly modified associations of E2 with intake of n-3 HUFA and fish; the associations were limited to those with the CC genotype. Macronutrient intakes were associated with serum E2 level, and these associations may be modified by HSD17B1 polymorphism in postmenopausal women.
The accident of the TEPCO Fukushima Dai-ichi Nuclear Power Plant occurred by the 2011 off the Pacific coast of Tohoku Earthquake on 11 Mar. 2011. It is estimated that totally 1.2-1.5x1016 Bq for 137Cs and 1.5-1.6x1017 Bq for 131I were released until the beginning of Apr. and those radionuclides (RN) were deposited on soil surface and forest etc. widely around Fukushima Pref. This work was carried out as one of the investigations for making the distribution maps of radiation dose rate and soil contaminated by RNs which the MEXT promotes. The Geoslicer investigation on the depth distribution of RNs in soil was performed after 3 months from the accident. The investigation was conducted at 11 locations in Nihonmatsu City, Kawamata Town and Namie Town, and soil samples of depth 50 cm to 1 m were taken. Both of 134Cs and 137Cs were detected in all investigated locations, and 129mTe and 110mAg were detected only in locations where radiation dose rates are high. At many locations investigated, radiocaesium more than 99 % distributed within a depth of 10 cm in soil in the surface layer. On the other hand, RNs tended to distribute to deeper part in soil at locations that are supposed to have been used as farmland than in soil in the surface layer, and radiocaesium more than 99 % in soil at locations that are supposed to have been used as farmland also distributed within a depth of around 14 cm. The apparent diffusion coefficients (Da) of RNs derived from penetration profiles near the surface layer showed a tendency to be higher in soil at locations that are supposed to have been used as farmland (Da=0.1-1.5x10-10 m2/s) than in soil in the surface layer (Da=0.65-4.4x10-11 m2/s), and most Da-values were nearly 10-11 m2/s. The distribution coefficients (Kd) by a batch method were in the range of Kd=2,000-61,000 ml/g for Cs and Kd=0.5-140 ml/g for I. Although the Kd-values are different between cation (Cs+) and anion (I-), the Da-values (134Cs, 137Cs, 129mTe and 110mAg) were similar levels. This is considered to be due to that the Da-values were controlled by dispersion by flow of rain water.
We report the kinetic analysis of radicals on fungal spores of Penicillium digitatum interacted with charged-neutral oxygen species (O*) generated plasma discharge using real time in situ electron spin resonance (ESR) measurements. The ESR signal from the spores was observed at a g-value of around 2.004 with a line width of approximately 5G. We have successfully obtained information regarding the reaction mechanism with free radicals and realtime in situ ESR has proven to be a useful method to elucidate plasma-induced surface reactions on biological specimens
We review the position-controlled growth of III-V nanowires (NWs) by selective-area metal-organic vapor-phase epitaxy (SA-MOVPE). This epitaxial technique enables the positioning of the vertical NWs on (111) oriented surfaces with lithographic techniques. Core-shell structures have also been achieved by controlling the growth mode during SA-MOVPE. The core-shell III-V NW-based devices such as light-emitting diodes, photovoltaic cells, and vertical surrounding-gate transistors are discussed in this article. Nanometer-scale growth also enabled the integration of III-V NWs on Si regardless of lattice mismatches. These demonstrated achievements should have broad applications in laser diodes, photodiodes, and high-electron mobility transistors with functionality on Si not made possible with conventional Si-CMOS techniques.
The three-dimensional structure of crack tip dislocations in single crystal silicon was observed by combining high-voltage electron microscopy and tomography. It was revealed that dislocations cross-slipped proximal to the crack tip even in the initial stages of plastic deformation. The local stress intensity factor along the crack front was calculated by taking into account the experimentally determined dislocation character. Based on these observations and calculations, a model to account for the sequential multiplication of dislocation sources along the crack front is proposed.
Punched-out dislocations emitted from an octahedral oxide precipitate in single-crystal silicon were investigated using high-voltage electron microscopy and tomography (HVEM-tomography) to understand the mechanism of softening caused by the oxide precipitates. In the present paper, direct evidence of the transition of a punched-out prismatic dislocation loop to a slip dislocation is presented. The punched-out dislocation grows into a large matrix dislocation loop by absorption of interstitial atoms, which were produced during oxide precipitation.
Few studies have addressed the relation between dietary patterns and colorectal cancer in Japan. We investigated dietary patterns in relation to colorectal cancer risk in a community-based case–control study. The association with dietary patterns was also examined for different sites of colorectal cancer. Data were derived from the Fukuoka Colorectal Cancer Study, including 800 cases and 775 controls interviewed from September 2000 to December 2003. The cases were admitted to one of the participating hospitals for the first surgical treatment during this period. We identified dietary patterns using principal component analysis of intakes of twenty-nine items of food groups and specific foods. Quartile categories of each dietary pattern were used, and non-dietary lifestyle factors and total energy intake were adjusted for in the analysis. We identified three dietary patterns: prudent, high-fat and light-meal patterns. The prudent dietary pattern characterised by high intakes of vegetables, fruits, seafoods and soya foods showed a nearly significant protective association with the overall risk of colorectal cancer (trend P = 0·054), and it was statistically significantly related to a decreased risk of distal colon cancer (trend P = 0·002), but not to that of either proximal colon or rectal cancer. The high-fat and light-meal dietary patterns were not materially related to the overall or site-specific risk of colorectal cancer. In summary, a prudent dietary pattern was associated with a decreased risk of colorectal cancer, especially with that of distal colon cancer, in a fairly large case–control study in Japan.
The operation of nuclear fuel reprocessing plants generates a radioactive effluent containing nitrate salts as the major constituent. This waste must be disposed of safely and economically, and to achieve this aim the Japan Atomic Energy Agency (JAEA) is developing a cement based encapsulation method to immobilise this waste. Non-radioactive development work has been performed at both small and large-scale (up to 200 litres) to investigate the optimum cement formulation. The results from these studies demonstrate that nitrate waste that has been concentrated by evaporation of the water to a predetermined level can be successfully encapsulated up to a waste loading corresponding to 50 wt% sodium nitrate. It has been identified that high concentrations of bicarbonate ions in the effluent can have a detrimental effect on the strength of the cement encapsulated waste; however, provided this concentration is controlled, successful encapsulation of the effluent is still achieved.
Development work has been carried out for several years on the cementation of phosphate waste from the Tokai Reprocessing Plant Solvent Waste Treatment Facility. The phosphate waste consists of mainly NaH2PO4 at a concentration of approximately 440g/ℓ, and has a pH of approximately 4. During attempts to encapsulate this waste in cement the phosphate species interfere with the hydration reaction and retard the setting of the cement and reduce the strength of the wasteform. To mitigate these detrimental effects, pretreatment of the phosphate waste with Ca(OH)2 prior to cementation has been investigated at small scale.
The effect of pre-treating the waste with various amounts of Ca(OH)2, specified by the Ca(OH)2/ NaH2PO4 molar ratio, was investigated under a range of mixing conditions. The viscosity of the pre-treated waste simulant was recorded and an optical microscope was used to identify the presence of small crystals formed during pre-treated. Cementation of pre-treated phosphate waste simulant was also investigated using various conditions to assess the effects of changing the waste loading, mixing temperature and water/cement ratio. The dimensional stability and strength of the resulting cemented waste was assessed up to 28 days.
Results from the trials show that pre-treatment of the waste simulant with Ca(OH)2 is particularly sensitive to the Ca(OH)2/ NaH2PO4 molar ratio and mixing temperature. These two factors strongly affect the rheology of the pre-treated waste and the acceptability for subsequent cementation. An optimum Ca(OH)2/ NaH2PO4 molar ratio was found to exist and the importance of controlling the waste temperature during pre-treatment was explained.
Cementation trials were performed using the pre-treated phosphate waste simulant and slag cement. It has been shown that pre-treated phosphate waste may be encapsulated in slag cement where the wasteform achieved compressive strengths exceeding 10 MPa after 28 days curing at waste loadings exceeding 13wt% (given as a % weight of cement wasteform represented by the NaH2PO4 in the untreated waste).
Demonstration trials of pre-treatment and encapsulation will be executed at full scale in the future.
Various animal models are available for studying human multiple sclerosis (MS). Most of them model the initial phase of MS, including the immune-triggered attack of the myelin membrane and/or oligodendrocytes and, occasionally, demonstrate the remission and relapsing phases. However, few mimic the late chronic demyelinating phase. Overexpression of the proteolipid protein gene (Plp) causes a unique demyelinating disorder in mice in which normal-appearing myelin forms early in life and chronic demyelination occurs later. We found that remyelination is severely affected in this late demyelinating phase, but is not caused by deprivation of oligodendrocyte progenitors expressing PDGF receptor alpha (PDGFRα) and Olig2, which are present at an even higher number in the demyelinated white matter of the mutants than in wild-type controls. Furthermore, mature oligodendrocytes containing PLP were observed, but failed to remyelinate. The ability of oligodendrocytes from older transgenic animals to produce a myelin membrane-like structure was not impaired when cultured in vitro, which indicates that the lack of remyelination is not simply caused by changes in the intrinsic properties of the oligodendrocytes. Glial activation also occurred much earlier than active demyelination in mutant mice. Thus, in addition to intrinsic mechanisms, extrinsic mechanisms might also have an important role in defects of remyelination. These features are also observed in patients at a late stage of MS, leading to chronic demyelinating lesions. Thus, this mouse model partly mimics the late stage of MS and can be used to study the cause of inhibition of remyelination.
Nanostructured Platinum-based electrode catalysts were prepared via in-situ colloidal impregnation for polymer electrolyte fuel cells. Crystallite size, grain size, and distribution of Pt nanoparticles on carbon support materials were characterized by XRD, TEM, high-resolution FESEM, and STEM. Effective surface area and kinetically-controlled current density of Pt electrode catalysts were analyzed by cyclic and hydrodynamic voltammetry using rotating disk electrodes. PEFCs with these electrode catalysts were also prepared and their I-V characteristics were examined at 80°C.
We have succeeded to develop Pt electrode catalysts with a diameter of a few nm, supported on carbon nanofibers with different structures (including herringbone-type fibers, platelet-type fibers, and highly-conductive vapor-grown fibers), carbon nanotubes, as well as carbon black. The dependencies of nanostructure and electrochemical properties on crystallographic structure of carbon support materials and preparation conditions of electrode catalysts are analyzed and discussed. Nanostructural design of PEFC electrode catalyst layers using carbon nanofibers as catalyst supports and electrode fillers is also discussed.
This paper explores the effectiveness of index terms more complex than the single words used
in conventional information retrieval systems. Retrieval is done in two phases: in the first, a
conventional retrieval method (the Okapi system) is used; in the second, complex index terms
such as syntactic relations and single words with part-of-speech information are introduced
to rerank the results of the first phase. We evaluated the effectiveness of the different types
of index terms through experiments using the TREC-7 test collection and 50 queries. The
retrieval effectiveness was improved for 32 out of 50 queries. Based on this investigation,
we then introduce a method to select effective index terms by using a decision tree. Further
experiments with the same test collection showed that retrieval effectiveness was improved in
25 of the 50 queries.