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.     

A 78-year-old man with young onset parkinsonism and sudden death

We report a right-handed 78-year-old man with early onset parkinsonism. The patient had an onset of micrographia at 23 years of the age in 1939. Seven years later he started to drag his right foot, and at 38 years of age, he walked with small steps with festination. Tremor was also present in his right hand. His daily life was independent as a otorhinolaryngologist. He visited our clinic on March 24, 1977 when he was mentally sound and showed mild parkinsonism consisting of masked face, stooped posture, small step gait, bradykinesia, and right side dominant rigidity and tremor. He showed good response to trihexyphenidyl and amantadine HCl. Two month later, he developed dyskinesia and some worsening of parkinsonism, and was admitted to our hospital for the first time. He was treated with 400 to 600 mg/day of levodopa/ carbidopa. He showed marked improvement, however, dyskinesia remained in his mouth. He was doing well until 77 years of age (June of 1993) when he developed hallucination and motor fluctuations. He was admitted again to our hospital on June 22, 1993. On admission, he was alert and appeared mentally sound. However, Hasegawa dementia scale was 18/30. Upward gaze was slightly restricted (3/5). Voice was somewhat small but no masking was noted. His posture was stooped and the gait was of small step. Dyskinesia was noted during walk. No rigidity nor tremor was noted. Deep tendon reflexes were lost but no sensory loss or motor weakness was noted. Routine laboratory studies were unremarkable. A cranial CT scan revealed only mild to moderate cortical atrophy. Motor and sensory conduction velocities were within normal limits, however, motor action potentials could not be obtained with stimulation to the right common peroneal nerve. He was treated with 600 mg/day of levodopa with carbidopa, 100 mg of amantadine HCl, 300 mg of Dops, and 25 mg of tiapride. He continued to show motor fluctuations, and was discharged on July 23, 1993. Since then his motor functions had become progressively worse with frequent falls, but he was still able to walk without support. On October 3 of 1994, he went to bed as usual. On the next morning, he was found dead in his bed at 9: 30. The patient was discussed in neurological CPC, and the chief discussant arrived at the conclusion that the patient had young-onset Parkinson's disease with Lewy bodies in the substantia nigra. Opinions were divided between Parkinson's disease and Lewy body negative young onset parkinsonism. Postmortem examination revealed obstruction of the trachea by aspirated foods, and the cause of death appeared to have been suffocation by the foods. Macroscopically, the external appearance of the brain was unremarkable except for slight frontal atrophy. The substantia nigra showed depigmentation in the lateral part, but the pigmentation of the medial part was well preserved. Upon histologic examination, the number of pigmented neurons in the dorsomedial part was well preserved. In the lateral part, pigmented neurons were well preserved in the dorsal area, however, in the ventral area, only non-pigmented neurons were seen; they appeared to be neurons in the pars reticulata. No gliosis was seen in any of the nigral areas. No Lewy bodies were seen in the remaining neurons. So-called immature neurons with rounded shape without neuromelanin could not be detected. The locus coeruleus neurons were well preserved. The putamen and the other basal ganglia structures were also intact. Slight myelin pallor was noted in the subcortical white matter, however, otherwise cerebral cortices were normal. The histology of this patient is unique in that only the ventrolateral part of the substantia nigra showed abnormal finding consisting of lack of pigmented neurons without gliosis. It is not clear whether the nigral change represents degeneration or a congenital "hypoplasia'. To our knowledge, such a unique pathology of the substantia nigra has not been reported in the literature. Our patient ma     

A control method with pheromone information for a transport system

Since the control methods of a transport system between processing machines are specialized for each layout of the system, it is difficult to design prompt schedules and control logic for new complicated systems, especially in cases of machine faults or restructuring the system to modify the layout. In this article, we describe a multiagent transport control system which utilizes pheromone information. Each element of the system acts as an agent and estimates the appropriate path and time to drive out the products using information obtained by communication with other elements as well as pheromone information deposited on the tracks of the products.     

Peroxiredoxin 2 as a chemotherapy responsiveness biomarker candidate in osteosarcoma revealed by proteomics

Purpose : We aimed to identify novel chemotherapy responsiveness biomarkers for osteosarcoma (OS) by investigating the global protein expression profile of 12 biopsy samples from OS patients. Experimental design : Six patients were classified as good responders and six as poor responders, according to the Huvos grading system. The protein expression profiles obtained by 2‐D DIGE consisted of 2250 protein spots. Results : Among them, we identified 55 protein spots whose intensity was significantly different (Bonferroni adjusted p‐value<0.01) between the two patient groups. Mass spectrometric protein identification demonstrated that the 55 spots corresponded to 38 distinct gene products including peroxiredoxin 2 (PRDX 2). Use of a specific antibody against PRDX 2 confirmed the differential expression of PRDX 2 between good and poor responders, while PRDX 2 levels as measured by Western blotting correlated highly with their corresponding 2‐D DIGE values. The predictive value of PRDX 2 expression was further confirmed by examining an additional four OS cases using Western blotting. Conclusions and clinical relevance : These results establish PRDX 2 as a candidate for chemotherapy responsiveness marker in OS. Measuring PRDX 2 in biopsy samples before treatment may contribute to more effective management of OS.     

Theory of ion mobility in liquid3He

An ion interacting with quasiparticles in liquid³He is treated theoretically by summing most divergent terms in perturbation series of the self-energy of the ion and the vertex part. The ion Green's function is renormalized by a factorZ(T), and the vertex part byZ(T) ^?1, where \({\text{Z(T)}} = {\text{(T/T}}_F {\text{)}}^{{\text{2V}}_{{\text{0}}^{\rho ^{\text{2}} } }^{\text{2}} } \) , forT ₀?T?T _F. Here,T ₀=(m/M)T _F, withm the³He mass andM the ion mass, and \({\text{V}}_{0^\rho } \) is the strength of the interaction. The factor explains the weak temperature dependence of the mobility around the minimum atT ₀; we also discuss its effect on the behavior of the mobility in³He-B nearT _c.     

Long-term availability prediction for groups of volunteer resources

Volunteer computing uses the free resources in Internet and Intranet environments for large-scale computation and storage. Currently, 70 applications use over 12 PetaFLOPS of computing power from such platforms. However, these platforms are currently limited to embarrassingly parallel applications. In an effort to broaden the set of applications that can leverage volunteer computing, we focus on the problem of predicting if a group of resources will be continuously available for a relatively long time period. Ensuring the collective availability of volunteer resources is challenging due to their inherent volatility and autonomy. Collective availability is important for enabling parallel applications and workflows on volunteer computing platforms. We evaluate our predictive methods using real availability traces gathered from hundreds of thousands of hosts from the SETI@home volunteer computing project. We show our prediction methods can guarantee reliably the availability of collections of volunteer resources. We show that this is particularly useful for service deployments over volunteer computing environments.     

Magnetic Correlation in BETS2(Cl2TCNQ)

We carried out⁷⁷Se NMR measurements on BETS₂(Cl₂TCNQ) under pressure in order to investigate the magnetic properties of the insulating state which appears above 0.6 GPa. The relaxation rate 1/T₁ at 0.7 GPa shows small peak-like anomaly at 20 K, indicating a spin density wave transition as observed in BETS₂(Br₂TCNQ).     

Frequency range extension of actively mode-locked lasers integratedwith electroabsorption modulators using chirped gratings

We have fabricated actively mode-locked lasers integrated with electroabsorption modulators and chirped gratings. A chirped grating with a large chirp rate of 1.45 Å/μm can be realized by using multiphase-shifted patterns. Short pulses of 4-6 ps were generated over a wide frequency range from 18.9-19.8 GHz. We observed jumps in the wavelength during detuning. These jumps arise from multiple lobes in the reflectivity spectrum. It is found that the wavelength jumps cause increases in the intensity noise. We showed that by reducing the grating length from 150 to 100 μm the sidelobes were suppressed and the detuning frequency range of over 1% could be realized. A smaller pulsewidth was obtained for the negatively-chirped gratings when compared to the positively chirped gratings     

Navigation of an AUV for investigation of underwater structures

There is a great demand for autonomous underwater vehicles (AUVs) to investigate artificial underwater structures such as piles and caissons in harbours, and risers and jackets of deep-sea oilfields. This paper proposes an autonomous investigation method of underwater structures using AUVs that is implemented by initially detecting the target objects, localizing them, then approaching them by taking video images while closely tracing their shape. A laser ranging system and a navigation method based on the relative position with respect to the target objects are introduced to realize this behaviour.     

Leak-tightness characteristics concerning the containment structures of the HTTR

The containment structures of the HTTR consist of the reactor containment vessel, the service area, and the emergency air purification system, which minimise the release of fission products in postulated accidents, which lead to fission product release from the reactor facilities. The reactor containment vessel is designed to withstand the temperature and pressure transients and to be leak-tight in the case of a rupture of the primary concentric hot-gas duct, etc. The pressure inside the service area is maintained at a negative pressure by the emergency air purification system. The emergency air purification system will also remove airborne radioactivity and will maintain a correct pressure in the service area.The leak-tightness characteristics of the containment structures are described in this paper. The measured leakage rates of the reactor containment vessel were enough less than the specified leakage limit of 0.1%/d confirmed during the commissioning tests and annual inspections. The service area was kept in a way that the design pressure becomes well below its allowable limitation by the emergency air purification system, which filters efficiency of particle removal and iodine removal well over the limited values.The obtained data demonstrate that the reactor containment structures were fabricated to minimise the release of fission products in the postulated accidents with fission product release from the reactor facilities.