Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium

Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. After our initial mapping of the FCMD locus to chromosome 9q31-33, we further defined the locus within a region of approximately 5 cM between loci D9S127 and CA246, by homozygosity mapping in patients born to consanguineous marriages and by recombination analyses in other families. We also found evidence for strong linkage disequilibrium between FCMD and a polymorphic microsatellite marker, mfd220, which showed no recombination and a lod score of (Z) 17.49. A "111-bp" allele for the mfd220 locus was observed in 22 (34%) of 64 FCMD chromosomes, but it was present in only 1 of 120 normal chromosomes. This allelic association with FCMD was highly significant (chi 2 = 50.7; P < .0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus.     

An approach to the formation and growth of new phases with application to polymer crystallization: effect of finite size,metastability, and Ostwald's rule of stages

This article aims to link the mainstream subject of chain-folded polymer crystallization with the rather speciality field of extended-chain crystallization, the latter typified by the crystallization of polyethylene (PE) under pressure. Issues of wider generality are also raised for crystal growth, and beyond for phase transformations. The underlying new experimental material comprises the prominent role of metastable phases, specifically the mobile hexagonal phase in polyethylene which can arise in preference to the orthorhombic phase in the phase regime where the latter is the stable regime, and the recognition of thickening growth as a primary growth process, as opposed to the traditionally considered secondary process of thickening. The scheme relies on considerations of crystal size as a thermodynamic variable, namely on melting-point depression, which is, in general, different for different polymorphs. It is shown that under specifiable conditions phase stabilities can invert with size; that is a phase which is metastable for infinite size can become the stable phase when the crystal is sufficiently small. As applied to crystal growth, it follows that a crystal can appear and grow in a phase that is different from that in its state of ultimate stability, maintaining this in a metastable form when it may or may not transform into the ultimate stable state in the course of growth according to circumstances. For polymers this intermediate initial state is one with high-chain mobility capable of thickening growth which in turn ceases (or slows down) upon transformation, when and if such occurs, thus locking in a finite lamellar thickness. The complete situation can be represented by a P, T, 1/l (l crystal thickness) phase-stability diagram which, coupled with kinetic considerations, embodies all recognized modes of crystallization including chain-folded and extended-chain type ones. The task that remains is to assess which applies under given conditions of P and T. A numerical assessment of the most widely explored case of crystallization of PE under atmospheric pressure indicates that there is a strong likelihood (critically dependent on the choice of input parameters) that crystallization may proceed via a metastable, mobile, hexagonal phase, which is transiently stable at the smallest size where the crystal first appears, with potentially profound consequences for the current picture of such crystallization. Crystallization of PE from solution, however, would, by such computations, proceed directly into the final stage of stability, upholding the validity of the existing treatments of chain-folded crystallization. The above treatment, in its wider applicability, provides a previously unsuspected thermodynamic foundation of Ostwald's rule of stages by stating that phase transformation will always start with the phase (polymorph) which is stable down to the smallest size, irrespective of whether this is stable or metastable when fully grown. In the case where the phase transformation is nucleation controlled, a ready connection between the kinetic and thermodynamic considerations presents itself, including previously invoked kinetic explanations of the stage rule. To justify the statement that the crystal size can control the transformation between two polymorphs, a recent result on 1 -4-poly-trans-butadiene is invoked. Furthermore, phase-stability conditions for wedge-shaped geometries are considered, as raised by current experimental material on PE. It is found that inversion of phase stabilities (as compared to the conditions pertaining for parallel-sided systems) can arise, with consequences for our scheme of polymer crystallization and with wider implications for phase transformations in tapering spaces in general. In addition, in two of the Appendices two themes of overall generality (arising from present considerations for polymers) are developed analytically; namely, the competition of nucleation-controlled phase growth of polymorphs as a function of input parameters, and the effect of phase size on the triple point in phase diagrams. The latter case leads, inter alia to the recognition of previously unsuspected singularities, with consequences which are yet to be assessed.     

Space-efficient recognition of sparse self-reducible languages

Mahaney and others have shown that sparse self-reducible sets have time-efficient algorithms, and have concluded that it is unlikely that NP has sparse complete sets. Mahaney's work, intuition, and a 1978 conjecture of Hartmanis notwithstanding, nothing has been known about the density of complete sets for feasible classes until now. This paper shows that sparse self-reducible sets have space-efficient algorithms, and in many cases, even have time-space-efficient algorithms. We conclude that NL, NC ^k , AC ^k , LOG(DCFL), LOG(CFL), and P lack complete (or even Turing-hard) sets of low density unless implausible complexity class inclusions hold. In particular, if NL (respectively P, _k , or NP) has a polylog-sparse logspace-hard set, then NLSC (respectively PSC, _k , or PHSC), and if P has subpolynomially sparse logspace-hard sets, then PPSPACE.     

On-chip Diamond MEMS Magnetic Sensing through Multifunctionalized Magnetostrictive Thin Film

Electrically integrable, high-sensitivity, and high-reliability magnetic sensors are not yet realized at high temperatures (500 °C). In this study, an integrated on-chip single-crystal diamond (SCD) micro-electromechanical system (MEMS) magnetic transducer is demonstrated by coupling SCD with a large magnetostrictive FeGa film. The FeGa film is multifunctionalized to actuate the resonator, self-sense the external magnetic field, and electrically readout the resonance signal. The on-chip SCD MEMS transducer shows a high sensitivity of 3.2 Hz mT⁻¹ from room temperature to 500 °C and a low noise level of 9.45 nT Hz^−1/2 up to 300 °C. The minimum fluctuation of the resonance frequency is 1.9 × 10⁻⁶ at room temperature and 2.3 × 10⁻⁶ at 300 °C. An SCD MEMS resonator array with parallel electric readout is subsequently achieved, thus providing a basis for the development of magnetic image sensors. The present study facilitates the development of highly integrated on-chip MEMS resonator transducers with high performance and high thermal stability.     

A variational approach to multi-phase motion of gas, liquid and solid based on the level set method

We propose a simple and robust numerical algorithm to deal with multi-phase motion of gas, liquid and solid based on the level set method [S. Osher, J.A. Sethian, Front propagating with curvature-dependent speed: Algorithms based on Hamilton-Jacobi formulation, J. Comput. Phys. 79 (1988) 12; M. Sussman, P. Smereka, S. Osher, A level set approach for capturing solution to incompressible two-phase flow, J. Comput. Phys. 114 (1994) 146; J.A. Sethian, Level Set Methods and Fast Marching Methods, Cambridge University Press, 1999; S. Osher, R. Fedkiw, Level Set Methods and Dynamics Implicit Surface, Applied Mathematical Sciences, vol. 153, Springer, 2003]. In Eulerian framework, to simulate interaction between a moving solid object and an interfacial flow, we need to define at least two functions (level set functions) to distinguish three materials. In such simulations, in general two functions overlap and/or disagree due to numerical errors such as numerical diffusion. In this paper, we resolved the problem using the idea of the active contour model [M. Kass, A. Witkin, D. Terzopoulos, Snakes: active contour models, International Journal of Computer Vision 1 (1988) 321; V. Caselles, R. Kimmel, G. Sapiro, Geodesic active contours, International Journal of Computer Vision 22 (1997) 61; G. Sapiro, Geometric Partial Differential Equations and Image Analysis, Cambridge University Press, 2001; R. Kimmel, Numerical Geometry of Images: Theory, Algorithms, and Applications, Springer-Verlag, 2003] introduced in the field of image processing.     

Buoyancy engine developed for underwater gliders

A buoyancy engine with a swashplate-type axial piston pump was developed. Its oil extrusion and drawing properties under high hydraulic pressure were evaluated. This buoyancy engine is now installed in an underwater glider that will achieve long-term monitoring of ocean environments up to 2100 m depth in a designated area with lower operational costs. This bidirectionally functioning pump can control the amount of oil in extrusion and draw operations. When drawing oil under high pressure, the hydraulic pump and the electric motor, respectively, act as a hydraulic motor and an electric generator. The generated electric power is absorbed by a damping resistor. The oil-drawing and extrusion properties were measured using a large hyperbaric chamber that is able to produce an almost identical environment to that of actual operations. Results confirmed stable oil extrusion operations up to 21 MPa. Regarding oil-drawing properties, although it was measured only up to 10 MPa in the hyperbaric chamber, it can be inferred that the system can draw the oil and can control the buoyancy precisely up to 21 MPa by replacing the two-way ball valve with an electromagnetic latching solenoid valve.     

Compact electrostatic levitator for diffraction measurements with a two axis diffractometer and a laboratory x-ray source

A compact electrostatic levitator was developed for the structural analysis of high-temperature liquids by x-ray diffraction methods. The size of the levitator was 200 mm in diameter and 200 mm in height and can be set up on a two axis diffractometer with a laboratory x-ray source, which is very convenient in performing structural measurements of high-temperature liquids. In particular, since the laboratory x-ray source allows a great amount of user time, preliminary or challenging experiments can be performed with trial and error, which prepares and complements synchrotron x-ray experiments. The present small apparatus also provides the advantage of portability and facility of setting. To demonstrate the capability of this electrostatic levitator, the static structure factors of alumina and silicon samples in their liquid phases were successfully measured.     

Preparation of β-Fesi2 thin film by metal organic chemical vapor deposition using iron-carbonyl and mono-silane

β-FeSi₂ films were deposited at 750 °C by a supplying Fe(CO)₅ and SiH₄ simultaneously during metal organic chemical vapor deposition (CVD). Films could be deposited using this precursors system, even though film deposition was not ascertained by the single supply of Fe(CO)₅. Fe(CO)₅ was probably decomposed in gas phases before it reached to substrate surface. It was suggested that a kind of intermediate reactant which was more stable than Fe(CO)₅ created by the simultaneous supply of Fe(CO)₅ and SiH₄ makes Fe-Si films. Epitaxial β-FeSi₂ films were obtained on Si(111) substrates, and neither carbide nor oxide phases were detected on XRD patterns.     

Characterization by Stm and Electrical Conductivity of Single-Walled Carbon Nanotubes

Abstract

Single-walled carbon nanotubes (SWCNT) prepared by a DC-Arc-Discharge and purified by a hydrothermal treatment followed by several steps of procedures including heating, burning, extracting and acid-washing are investigated by a conventional STM technique morphologically and spectroscopically. The electical resistivities of compacted pellets (mats) of SWCNT are measured as a function of temperature in the range from the room-temperature to 1.5K. The behaviors seems to be essentially originated in the metallic nature of individual SWCNT.     

Preparation and Intestinal Immunostimulating Activity of Low Molecular Weight Alginate from Saccharina (Laminaria) Species in Japan

We studied the structure of alginates extracted from five commercial Saccharina (Laminaria) species including three varieties (eight samples in all) harvested in Hokkaido, Japan. The algae used were Saccharina japonica, S. japonica var. diabolica, S. japonica var. ochotensis, S. japonica var. religiosa, S. longissima, S. coriacea, S. angustata, and S. sculpera (Kjellmaniella crassiforia). These alginates have molar fractions of mannuronic acid (F_M) ranging from 0.68 to 0.76 and weight average molecular weights (M_ws) ranging from 511,000 to 616,000. Alginate samples from both S. angustata (F_M = 0.76) and S. longissima (F_M = 0.68) showed intestinal immunological activity through Peyer’s patch cells of C3H/HeJ mice. Low molecular weight S. angustata alginate (F_M = 0.75, M_w = 70,000) degraded using a wet pulverizing system showed higher activity than the native one.