Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital

Recent progress in genetic medicine is remarkable and seems to be getting ahead of the general population. For a proper application of genetic medicine to people, genetic counseling is essential. There are few institutions that can provide sufficient genetic counseling in Japan. In response to a proposal by the Ministry of Health, Labour and Welfare to establish a genetic counseling system, Nagasaki prefecture started the genetic counseling model project in 1999 and entrusted Nagasaki University Hospital to become its core, a genetic counseling center. At the same time, Nagasaki University Hospital set up the Genetic Counseling Unit as an independent clinical division to respond the social needs. We describe here the course and current status of the trial to establish a district-adhered genetic counseling system in recent two years in Nagasaki prefecture

Ultrathin GeSn p-channel MOSFETs grown directly on Si(111) substrate using solid phase epitaxy

Ultrathin GeSn layers with a thickness of 5.5 nm are fabricated on a Si(111) substrate by solid phase epitaxy (SPE) of amorphous GeSn layers with Sn concentrations up to 6.7%. We demonstrate well-behaved depletion-mode operation of GeSn p-channel metal–oxide–semiconductor field-effect transistors (pMOSFETs) with an on/off ratio of more than 1000 owing to the ultrathin GeSn channel layer (5.5 nm). It is found that the on current increases significantly with increasing Sn concentration at the same gate overdrive, attributed to an increasing substitutional Sn incorporation in Ge. The GeSn (6.7%) layer sample shows approximately 90% enhancement in hole mobility in comparison with a pure Ge channel on Si.status: publishe

A Patient With Thiamine Deficiency Exhibiting Muscle Edema Suggested by MRI

Myalgia is sometimes observed in patients with thiamine-deficiency neuropathy. However, the detailed mechanism(s) underlying muscular manifestations have been poorly elucidated. We herein report a possible patient with thiamine-deficiency neuropathy exhibiting muscle weakness and myalgia in lower limbs. The patient exhibited abnormal muscle signal intensities on MRI corresponding to the site of myalgia. After thiamine replacement therapy, rapid improvement of clinical symptoms and abnormal MRI findings were observed. Muscle MRI findings in this case implicated the possible mechanism of myalgia observed in patients with thiamine deficiency neuropathy

The ASTRO-H X-ray Observatory

The joint JAXA/NASA ASTRO-H mission is the sixth in a series of highly successful X-ray missions initiated by the Institute of Space and Astronautical Science (ISAS). ASTRO-H will investigate the physics of the high-energy universe via a suite of four instruments, covering a very wide energy range, from 0.3 keV to 600 keV. These instruments include a high-resolution, high-throughput spectrometer sensitive over 0.3-2 keV with high spectral resolution of Delta E < 7 eV, enabled by a micro-calorimeter array located in the focal plane of thin-foil X-ray optics; hard X-ray imaging spectrometers covering 5-80 keV, located in the focal plane of multilayer-coated, focusing hard X-ray mirrors; a wide-field imaging spectrometer sensitive over 0.4-12 keV, with an X-ray CCD camera in the focal plane of a soft X-ray telescope; and a non-focusing Compton-camera type soft gamma-ray detector, sensitive in the 40-600 keV band. The simultaneous broad bandpass, coupled with high spectral resolution, will enable the pursuit of a wide variety of important science themes.Comment: 22 pages, 17 figures, Proceedings of the SPIE Astronomical Instrumentation "Space Telescopes and Instrumentation 2012: Ultraviolet to Gamma Ray

Roles of Salivary Components in Streptococcus mutans Colonization in a New Animal Model Using NOD/SCID.e2f1−/− Mice

Streptococcus mutans plays an important role in biofilm formation on the tooth surface and is the primary causative agent of dental caries. The binding of S. mutans to the salivary pellicle is of considerable etiologic significance and is important in biofilm development. Recently, we produced NOD/SCID.e2f1−/− mice that show hyposalivation, lower salivary antibody, and an extended life span compared to the parent strain: NOD.e2f1−/−. In this study we used NOD/SCID.e2f1−/− 4 or 6 mice to determine the roles of several salivary components in S. mutans colonization in vivo. S. mutans colonization in NOD/SCID.e2f1−/− mice was significantly increased when mice were pre-treated with human saliva or commercial salivary components. Interestingly, pre-treatment with secretory IgA (sIgA) at physiological concentrations promoted significant colonization of S. mutans compared with sIgA at higher concentrations, or with human saliva or other components. Our data suggest the principal effects of specific sIgA on S. mutans occur during S. mutans colonization, where the appropriate concentration of specific sIgA may serve as an anti-microbial agent, agglutinin, or an adherence receptor to surface antigens. Further, specific sIgA supported biofilm formation when the mice were supplied 1% sucrose water and a non-sucrose diet. The data suggests that there are multiple effects exerted by sIgA in S. mutans colonization, with synergistic effects evident under the condition of sIgA and limited nutrients on colonization in NOD/SCID.e2f1−/− mice. This is a new animal model that can be used to assess prevention methods for dental biofilm-dependent diseases such as dental caries

Hitomi (ASTRO-H) X-ray Astronomy Satellite

The Hitomi (ASTRO-H) mission is the sixth Japanese x-ray astronomy satellite developed by a large international collaboration, including Japan, USA, Canada, and Europe. The mission aimed to provide the highest energy resolution ever achieved at E  >  2  keV, using a microcalorimeter instrument, and to cover a wide energy range spanning four decades in energy from soft x-rays to gamma rays. After a successful launch on February 17, 2016, the spacecraft lost its function on March 26, 2016, but the commissioning phase for about a month provided valuable information on the onboard instruments and the spacecraft system, including astrophysical results obtained from first light observations. The paper describes the Hitomi (ASTRO-H) mission, its capabilities, the initial operation, and the instruments/spacecraft performances confirmed during the commissioning operations for about a month