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.     

Superconductivity in the tetragonal phase of La1.9Bi0.1CuO4+δ annealed under high oxygen pressure

We have investigated the relation between the crystal structure and superconductivity in La_1.9Bi_0.1CuO₄₊ , in which the phase separation observed in La₂CuO₄₊ is suppressed. A phase diagram in theT– plane is given for La_1.9Bi_0.1CuO₄₊ with excess oxygen. For very small values, the crystal structure is orthorhombic, and an orthorhombic-tetragonal phase transition occurs markedly at 0.03 in the measured temperature range between 13 and 293 K. Superconductivity is observed in the range of 0.04<<0.11. This is clear evidence thathigh-T _c superconductivity also appears in the tetragonal phase.     

Derivation and implementation of a cone-beam reconstruction algorithm for nonplanar orbits

B.D. Smith (ibid., vol.MI-4, p.15-25, 1985; Opt. Eng., vol.29, p.524-34, 1990) and P. Grangeat (These de doctorat, 1987; Lecture Notes in Mathematics 1497, p.66-97, 1991) derived a cone-beam inversion formula that can be applied when a nonplanar orbit satisfying the completeness condition is used. Although Grangeat's inversion formula is mathematically different from Smith's one, they have similar overall structures to each other. The contribution of the present paper is two-fold. First, based on the derivation of Smith, the authors point out that Grangeat's inversion formula and Smith's one can be conveniently described using a single formula (the Smith-Grangeat inversion formula) that is in the form of space-variant filtering followed by cone-beam back projection. Furthermore, the resulting formula is reformulated for data acquisition systems with a planar detector to obtain a new reconstruction algorithm. Second, the authors make two significant modifications to the new algorithm to reduce artifacts and numerical errors encountered in direct implementation of the new algorithm. As for exactness of the new algorithm, the following fact can be stated. The algorithm based on Grangeat's intermediate function is exact for any complete orbit, whereas that based on Smith's intermediate function should be considered as an approximate inverse excepting the special case where almost every plane in 3D space meets the orbit. The validity of the new algorithm is demonstrated by simulation studies.     

A novel radial orientation treatment of nematic liquid crystals using magnetic field lines with permanent magnet and applying the assisted electric field

Recently, there has been considerable research on optical devices, such as liquid crystal (LC) lenses and special optical plates, using LCs. In such devices, relatively small LC cells are frequently used, or unique LC orientations are required. As an LC orientation process, we focused on the LC director's orientation induced by the magnetic force line distribution of a small neodymium magnet. We propose a simple method for obtaining radial orientation, which is rather difficult to obtain using the ordinary rubbing method. The initial orientation in the LC cell is a vertical orientation cell with almost zero azimuth anchoring. With the proposed method, the reorientation process is performed with an assisting electric field and a small permanent magnet, unlike the conventional magnetic field orientation process that requires a large electromagnet. Furthermore, a polymer stabilization treatment is used to fix the obtained radial orientation pattern in the LC cell. After the treatment, the applying voltage can control the tilt angle of the director in weak polymer treatment, and a completely fixed orientation pattern can be obtained that in strong.     

Revolving Vernier Mechanism Controls Size of Linear Homomultimer

A new kind of the Vernier mechanism that is able to control the size of linear assembly of DNA origami nanostructures is proposed. The mechanism is realized by mechanical design of DNA origami, which consists of a hollow cylinder and a rotatable shaft in it connected through the same scaffold. This nanostructure stacks with each other by the shape complementarity at its top and bottom surfaces of the cylinder, while the number of stacking is limited by twisting angle of the shaft. Experiments have shown that the size distribution of multimeric assembly of the origami depends on the twisting angle of the shaft; the average lengths of the multimer are decamer, hexamer, and tetramer for 0°, 10°, and 20° twist, respectively. In summary, it is possible to affect the number of polymerization by adjusting the precise shape and movability of a molecular structure.     

Heparan sulfate proteoglycan on endothelium efficiently induces integrin-mediated T cell adhesion by immobilizing chemokines in patients with rheumatoid synovitis

OBJECTIVE: To clarify the role of heparan sulfate proteoglycan (HSPG) and chemokines in integrin-mediated T cell adhesion to endothelial cells in the synovium of patients with rheumatoid arthritis (RA). METHODS: Endothelial cells were purified from RA synovium. Expression of heparan sulfate, chemokines, and adhesion molecules on the endothelium was assessed by immunohistochemical analysis or flow cytometry. The effects of chemokines and heparan sulfate on T cell adhesion to RA endothelium were estimated with relevant antibodies and signaling inhibitors. Production of chemokines from synovial T cells was detected by Northern blotting and enzyme-linked immunosorbent assay. RESULTS: The endothelium in RA synovium highly expressed HSPG. The soluble form of chemokines, macrophage inflammatory protein 1beta (MIP-1beta), induced T cell adhesion to the endothelial cells. When MIP-lalpha and MIP-1beta were immobilized on RA endothelial cells, a more efficient integrin-mediated adhesion of T cells was induced compared with their soluble form. The induced T cell adhesion was reduced by pretreatment with either heparitinase, anti-MIP-lalpha antibody, or anti-MIP-lbeta antibody, indicating that these chemokines were bound to heparan sulfate on the cells. T cell adhesion was also inhibited by pertussis toxin, wortmannin, and cytochalasin B. MIP-lalpha and MIP-1beta were found on vessels in RA synovium in vivo, which were spontaneously produced from T cells purified from RA synovium. CONCLUSION: Endothelial cells in RA synovium characteristically express HSPG, which is involved in T cell integrin triggering by "posting" chemokines, which are produced by synovial T cells, and by "relaying" them to their receptors on T cells, which activate G protein-dependent phosphoinositide 3-kinase and actin-dependent integrin triggering.     

A 63-year-old man with progressive cauda equina/conus medullaris syndrome

BACKGROUND: This article presents results of the acute treatment phase of a 2-site study comparing cognitive behavioral group therapy (CBGT) and treatment with the monoamine oxidase inhibitor phenelzine sulfate for social phobia. METHODS: One hundred thirty-three patients from 2 sites received 12 weeks of CBGT, phenelzine therapy, pill placebo administration, or educational-supportive group therapy (an attention-placebo treatment of equal credibility to CBGT). The "allegiance effect," ie, the tendency for treatments to seem most efficacious in settings of similar theoretical orientation and less efficacious in theoretically divergent settings, was also examined by comparing responses to the treatment conditions at both sites: 1 known for pharmacological treatment of anxiety disorders and the other for cognitive behavioral treatment. RESULTs: After 12 weeks, phenelzine therapy and CBGT led to superior response rates and greater change on dimensional measures than did either control condition. However, response to phenelzine therapy was more evident after 6 weeks, and phenelzine therapy was also superior to CBGT after 12 weeks on some measures. There were few differences between sites, suggesting that these treatments can be efficacious at facilities with differing theoretical allegiances. CONCLUSIONS: After 12 weeks, both phenelzine therapy and CBGT were associated with marked positive response. Although phenelzine therapy was superior to CBGT on some measures, both were more efficacious than the control conditions. More extended cognitive behavioral treatment and the combination of modalities may enhance treatment effect.     

Anisotropy in the resistive superconducting transition under magnetic fields in single crystal Pb2Sr2Ho0.5Ca0.5Cu3O8

Anisotropie properties of the single crystal Pb₂Sr₂Ho_0.5Ca_0.5Cu₃O₈ have been investigated by measuring the electrical resistivity in theab-planeρ _ab (H, θ,T), which depends on the angleθ between theab-plane and the magnetic-field direction, in various constant fieldsH perpendicular to the current direction. All the angle-dependent values ofρ _ab (H, θ,T) at a constant temperature are scaled to be on one curve as a function of reduced field. The anisotropic parameter γ≡(m _c ^* /m _ab ^* )^1/2 is estimated as 12–13, which is larger than that of YBa₂Cu₃O₇ and much smaller than that of Bi₂Sr₂CaCu₂O₈. It has been concluded that the anisotropy does not always depend on the thickness of the blocking layer but seems to depend on the overlap of the electronic wave functions along thec-axis. Anisotropy in the pinning potential has also been discussed from the resistive tail in the temperature dependence ofρ _ab (H,θ,T).     

Development of a pulse control-type MEMS microrobot with a hardware neural network

This article presents the micro-electro-mechanical systems (MEMS) microrobot which demonstrates locomotion controlled by hardware neural networks (HNN). The size of the microrobot fabricated by the MEMS technology is 4 × 4 × 3.5 mm. The frame of the robot is made of silicon wafer, and it is equipped with a rotary-type actuator, a link mechanism, and six legs. The rotary-type actuator generates rotational movement by applying an electrical current to artificial muscle wires. The locomotion of the microrobot is obtained by the rotation of the rotary-type actuator. As in a living organism, the HNN realized robot control without using any software programs, A/D converters, or additional driving circuits. A central pattern generator (CPG) model was implemented as an HNN system to emulate the locomotion pattern. The MEMS microrobot emulated the locomotion method and the neural networks of an insect with the rotary-type actuator, the link mechanism, and the HNN. The microrobot performed forward and backward locomotion, and also changed direction by inputting an external trigger pulse. The locomotion speed was 0.325 mm/s and the step width was 1.3 mm.