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Background: There is currently no accepted classification of recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus and develop a clinical and pathophysiological classification for recessive ataxias. Methods: The work of this task force was based on a scoping systematic review of the literature that identified recessive disorders characterized primarily by a cerebellar motor syndrome and cerebellar degeneration. The task force regrouped 12 international ataxia experts who decided on general orientation and specific issues. Results: We identified 59 disorders that are classified as primary recessive ataxias. For each of these disorders, we present geographical and ethnical specificities along with distinctive clinical and imagery features. The primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinical approach to the patient presenting with ataxia. We also identified a list of 48 complex multisystem disorders in which ataxia is a secondary feature. Conclusions: This classification is based on a scoping systematic review of the literature and results from a sconsensus among a panel of international experts. It promotes a unified understanding of recessive cerebellar disorders for clinicians and researchers.
Organic thin-film transistors (OTFTs) are the most promising candidates for flexible electronics owing to their flexible structures, the simplicity of processing large-area devices, and excellent compatibility with flexible substrates. To date, many studies have been reported that have aimed at developing a wide range of plastic electronics such as flexible displays, sensors. In this paper, we discuss our recent work, focusing on OTFT arrays and their application to flexible display. An active-matrix (AM) backplane using a low-temperature cross-linkable olefin-type polymer as the gatedielectric and an air-stable DNTT as the organic semiconductor (OSC) was successfully fabricated on a plastic substrate. The short-channel TFT array exhibited a high hole mobility of over 0.5 cm2/Vs, a low subthreshold slope of 0.31, and excellent environmental and operational stability. A 5-inch flexible OLED display exhibited a high luminescence of over 300 cd/m2 by driving of the DNTT-based OTFTs. Solution-processed OTFTs are also attracting considerable attention owing to both their simple manufacturing process and excellent transistor performance. We present a simple patterning process for a solution-processable OSC that can be used to develop a high-mobility short-channel TFT array. The OSC film was directly patterned on the confined active channel region by a simple lamination coating technique and the resulting TFTs showed a high mobility of up to 1.3 cm2/Vs. In the final section, we report on eco-friendly paper-based organic TFT array. A transparent cellulose nanofibers paper was firstly applied to a flexible substrate for the TFT backplane. A solution-processed TFT on the transparent paper exhibited a high mobility exceeding 1 cm2/Vs, good air stability, and excellent mechanical stability.
The gullet worm (Gongylonema pulchrum) has been recorded from a variety of mammals worldwide, including monkeys and humans. Due to its wide host range, it has been suggested that the worm may be transmitted locally to any mammalian host by chance. To investigate this notion, the ribosomal RNA gene (rDNA), mainly regions of the internal transcribed spacers (ITS) 1 and 2, and a cytochrome c oxidase subunit I (COI) region of mitochondrial DNA of G. pulchrum were characterized using parasites from the following hosts located in Japan: cattle, sika deer, wild boars, Japanese macaques, a feral Reeves's muntjac and captive squirrel monkeys. The rDNA nucleotide sequences of G. pulchrum were generally well conserved regardless of their host origin. However, a few insertions/deletions of nucleotides along with a few base substitutions in the ITS1 and ITS2 regions were observed in G. pulchrum from sika deer, wild boars and Japanese macaques, and those differed from G. pulchrum in cattle, the feral Reeves's muntjac and captive squirrel monkeys. The COI sequences of G. pulchrum were further divided into multiple haplotypes and two groups of haplotypes, i.e. those from a majority of sika deer, wild boars and Japanese macaques and those from cattle and zoo animals, were clearly differentiated. Our findings indicate that domestic and sylvatic transmission cycles of the gullet worm are currently present, at least in Japan.
To report a case of multifocal fibrosclerosis with a nine-year follow up, and to discuss this disease's radiological appearance and management. The disease is a rare systemic disorder of unknown cause characterised by fibrous proliferation involving multiple anatomical sites.
A 50-year-old woman presented with histological findings characterised by similar inflammatory processes involving the meninges, pituitary gland, peritoneum, retroperitoneum and orbits, prompting a search for a common pathophysiology. A diagnosis of multifocal fibrosclerosis was postulated. Symptom improvement was noted after treatment with prednisone and azathioprine.
This is the first documented case of involvement of the cochleovestibular nerve in a patient with multifocal fibrosclerosis. The rare association between fibrotic diseases and masses showing various clinical patterns should be kept in mind by otolaryngologists, and imaging performed to investigate for multifocal fibrosclerosis. However, diagnosis can only be confirmed with tissue biopsy and histopathological examination.
The silicon carbide thin film formation process, completely performed at room temperature, was developed by argon plasma and a chemical vapor deposition using monomethylsilane gas. Time-of-flight secondary ion mass spectrometry showed that siliconcarbon bonds existed in the obtained film, the surface of which could remain specular after the exposure to hydrogen chloride gas at 800 °C. The silicon dangling bonds formed at the silicon surface by the argon plasma are considered to easily accept the monomethylsilane molecules at room temperature to produce the amorphous silicon carbide film.
Acute diarrhoea remains a major public health challenge in developing countries. We examined the role of a probiotic in the prevention of acute diarrhoea to discover if there was an effect directed towards a specific aetiology. A double-blind, randomized, controlled field trial involving 3758 children aged 1–5 years was conducted in an urban slum community in Kolkata, India. Participants were given either a probiotic drink containing Lactobacillus casei strain Shirota or a nutrient drink daily for 12 weeks. They were followed up for another 12 weeks. The primary outcome of this study was the occurrence of first episodes of diarrhoea. We assessed this during 12 weeks of intake of study agent and also for 12 weeks of follow-up. There were 608 subjects with diarrhoea in the probiotic group and 674 subjects in the nutrient group during the study period of 24 weeks. The level of protective efficacy for the probiotic was 14% (95% confidence interval 4–23, P<0·01 in adjusted model). The reduced occurrence of acute diarrhoea in the probiotic group compared to nutrient group was not associated with any specific aetiology. No adverse event was observed in children of either probiotic or nutrient groups. The study suggests that daily intake of a probiotic drink can play a role in prevention of acute diarrhoea in young children in a community setting of a developing country.
A two-phase intermetallic alloy composed of Ni3Al (L12) and Ni3V (D022) was plasma-nitrided or -carburized in dependence of temperature and time. It was found that the hardness of the surface layer of the present intermetallic alloy was enhanced by both plasma-nitriding (PN) and -carburizing (PC), and primarily depended on treating temperature; the maximum surface hardness of the alloy was shown by nitriding at around 850 K and by carburizing at 1025 K. In addition, the hardened layers due to PN and PC effectively kept their hardness up to a high temperature. The XRD analysis revealed that vanadium nitride (VN) and vanadium carbide (VC) were formed in the surface of the nitrided and carburized alloy, respectively, suggesting that the enhanced surface hardness was attributed to the dispersion hardening due to the nitrides and carbides.
Pressure fluctuations are an important ingredient in turbulence, e.g. in the pressure strain terms which redistribute turbulence among the different fluctuating velocity components. The variation of the pressure fluctuations inside a turbulent boundary layer has hitherto been out of reach of experimental determination. The mechanisms of non-local pressure-related coupling between the different regions of the boundary layer have therefore remained poorly understood. One reason for this is the difficulty inherent in measuring the fluctuating pressure. We have developed a new technique to measure pressure fluctuations. In the present study, both mean and fluctuating pressure, wall pressure, and streamwise velocity have been measured simultaneously in turbulent boundary layers up to Reynolds numbers based on the momentum thickness Rθ ≃ 20000. Results on mean and fluctuation distributions, spectra, Reynolds number dependence, and correlation functions are reported. Also, an attempt is made to test, for the first time, the existence of Kolmogorov's -7/3 power-law scaling of the pressure spectrum in the limit of high Reynolds numbers in a turbulent boundary layer.
Objective: The aim of this study is to evaluate the validity and the utility of the Japanese version of the WHO-Five Well-Being Index (WHO-5-J) in the context of detecting suicidal ideation in elderly community residents.
Methods: A sample of 696 subjects aged 70 years or over who completed a set of questionnaires was examined.
Results: Cronbach's α was 0.87 and Loevinger's coefficient was 0.64. The total score was significantly correlated with the number of cohabitants, the number of physical illnesses, physical functioning, instrumental activities of daily living, and depressive symptoms. Subjects with suicidal ideation had significantly lower scores on the WHO-5-J. The receiver-operating characteristic curve analysis indicated that the scale significantly discriminated the subjects with suicidal ideation. When combined with the assessment of a lack of perceived social support (PSS), a standard cut-off criterion of “a total score ≤ 12 or answering 0 or 1 to any of the five items” more appropriately identified elderly subjects with suicidal ideation: sensitivity = 87%, specificity = 75%, negative predictive value = 99%, and positive predictive value = 10%.
Conclusions: In combination with PSS, the scale has predictive utility to detect suicidal ideation in elderly community residents.
We studied antiphase domain (APD) growth and lamellar structure formation during isothermal annealing of Ti-39at%Al single crystals at α2+γ dual phase temperature after quenching from α single phase state, intending to obtain a APD/lamellae mixed microstructure and to examine whether such a microstructure provides a strength higher than that obtained only by refining lamellar structure. The effect of plastic deformation prior to the annealing was also examined expecting a acceleration of γ lamellae formation through a preferential nucleation of γ-plates at dislocations. The lower was the annealing temperature, the smaller both the APD size and the lamellar spacing at the moment of a homogeneous lamellar structure formation tended to be, although naturally both the APD growth and the γ lamellae formation were slower. However, the APD size in the homogeneous lamellar structure was no smaller than 400 nm. A structure with finer APDs and finer lamellar structure was obtained by deforming the crystal before annealing since the lamellar structure formation was accelerated and the time for APD growth before the lamellar structure formation was shortened. For instance, a structure with an average lamellar spacing of 88 nm and an average APD size of 214 nm was obtained by deforming the crystals to 10 % plastic strain and subsequently annealing at 1073 K for 1×104 s, while no γ plate was obtained only by such an annealing without deformation.
In January 2003, two cases of Legionnaires' disease associated with a ship's cruise were registered in the database of National Epidemiological Surveillance of Infectious Diseases. A 70-year-old male heavy smoker with mild emphysema contracted the disease during a cruise. Legionella pneumophila serogroup (sg) 5 was isolated from the patient's sputum and the ship's indoor spa. The isolate from the spa matched the patient's isolate by genotyping performed by pulsed-field gel electrophoresis (PFGE). The second case was in a 73-year-old female. During epidemiological investigation, a third case of Legionnaire's disease in a 71-year-old male was subsequently diagnosed among passengers on the same ship on the following cruise. Environmental investigation revealed that porous natural stones (Maifanshi) in the filters of the spas had harboured L. pneumophila, a phenomenon which has not been reported except in Japan. This is the first documented evidence of L. pneumophila sg 5 infection on a ship and of porous stones as a source of Legionella infection.
The stability of B atom near the Si(100)/SiO2 interface
during annealing is studied by using ab initio calculation
to investigate the atomic scale mechanism of B segregation
at the Si(100)/SiO2 interface. Contrary to the experimental
observations showing that B atoms segregate into SiO2, B
atoms are found to be stable in Si free of defects. But
authors can rephrase differently this sentence. On the other
hand, when an O vacancy exists in SiO2, the B atom is
trapped by the O vacancy and becomes quite stable in SiO2.
v sin i has been measured from high-resolution (λ/Δλ~50000) infrared spectra of ~30 M and L dwarfs. The spectral region observed covers approximately 0.01 μm centered at 2.312 μm in the CO 2-0 band. v sin i, measured from the CO lines, increases dramatically from the M to L dwarfs. In extreme cases the rotational periods are a few hours.
The growth of the D03-type antiphase domain (APD) in Fe3Al was investigated focusing on the effect of excess vacancies that were introduced during the quenching process from the disordered state. The variation in the APD size exhibited considerable deviation from the conventional “parabolic growth law” in the early stage of APD growth. This variation was numerically calculated on the assumption that the migration of the APD boundaries was enhanced by non-equilibrium excess vacancies and the vacancy concentration decreased during the isothermal annealing for the APD growth. The calculated variations in the APD size could be successfully fitted to the experimental results in cases with quenching temperatures (Tq) of 873 K or 1073 K, but not when Tq was 1273 K. The APD growth in the latter case was much slower than the expected growth derived from the calculation. This discrepancy was attributed to the rapid decrease in the vacancy concentration due to vacancy clustering since a significant amount of dotted contrasts were observed in TEM image of only the specimen quenched from 1273K.
Effects of ruthenium (Ru) substitution on constituent phases, phase transformation temperatures and mechanical properties were investigated for Ti-Ni shape memory alloys. Ti50Ni50-XRuX alloys with Ru contents (X) from 0mol% (binary TiNi) to 50mol% (binary TiRu) were systematically prepared by Ar arc-melting followed by hot-forging at temperatures from 1173K to 1673K depending on chemical composition. Phase stability was assessed by DSC (differential scanning calorimetry), XRD (X-ray diffractometry) and TEM (transmission electron microscopy). Mechanical properties were investigated using hardness and tensile tests at room temperature. With increasing Ru content, it was found that the lattice parameter of B2 phase increases, the martensitic transformation temperature slightly decreases, and the melting temperature increases monotonously. Besides, R-phase appears for Ti-Ni alloys containing 3mol% and 20mol%Ru but no diffusionless phase transformation is seen in Ti-Ni alloy containing 5mol%Ru. Vickers hardness shows the maximum at an intermediate composition (HV1030 at 30mol%Ru); this suggests that large solid solution hardening is caused by Ru substitution for the Ni-sites in TiNi.
Effect of antiphase domain boundaries (APDBs) on yielding and dislocation structure were investigated in Ti3Al single crystals oriented for prism slip. The yield stress greatly depended on the size of antiphase domains (APDs). The yield stress of Ti3Al with the average APD size of 35nm was about six times higher than that of Ti3Al without APDB. Single dislocations (isolated superpartial dislocations) were observed in the deformed Ti3Al single crystal with APD sizes smaller than 100nm, while superdislocation pairs were observed in those with larger APDs. The mechanism of the interaction between the prism dislocations and APDBs is discussed.
Since the maximum shape recovery temperature of the binary Ti-Ni alloys is limited to be around 400K, the increase in martensitic transformation temperature (Ms) of Ti-Ni should be done by alloying for the demand of high temperature applications. Although most of additional elements are known to decrease Ms of Ti-Ni, substitutional elements having large atomic size are expected to increase Ms. In this study, phase constitution, phase transformation temperature, lattice parameter of B2 phase and Vickers hardness were investigated for Ti-Ni alloys containing several platinum-group metals (PGM). The alloy systems investigated were the pseudobinary systems of TiNi-TiRh, TiNi-TiIr and TiNi-TiPt where the PGM atoms substitute for the Ni-sites of TiNi. The phase transformation and phase constitution were assessed by differential scanning calorimetry (DSC), X-ray diffraction analysis (XRD) and transmission electron microscopy (TEM). It was found by XRD that TiNi can contain a large amount of the PGMs as Ti(Ni, Rh), Ti(Ni, Ir) and Ti(Ni, Pt). Lattice parameters monotonously increase with increasing amount of PGMs. With increasing Pt content, Ms slightly decreases when less than 10mol%Pt while continuously increases as the rate of 26K/mol%Pt when more than 10mol%Pt. On the other hand, Ms decreases and then disappears with increasing Rh or Ir content. Hardness ranges from HV180 to HV570 and the maximum values in the pseudobinary systems lie around 20–30mol%PGM, suggesting solid solution hardening caused by the substitution of PGMs.