Steroidogenic factor-1 (SF-1) regulates multiple genes involved in the adrenal and gonadal development and in the biosynthesis of a variety of hormones, including adrenal and gonadal steroids, anti-Mullerian hormone (AMH), and gonadotropins. We identified a novel SF-1 mutation in a 27-yr-old Japanese patient with a 46,XY karyotype. Sequence analysis was performed for all the seven exons of SF-1, revealing a heterozygous single base pair deletion at exon 2 (18delC) that is predicted to cause a frameshift at the sixth codon and resultant termination at the 74th codon. Functional studies showed that the mutation produced no demonstrable protein and had no transcription activity or dominant negative effect. Clinical features included small dysgenetic testes with vasa deferentia and epididymides, absent uterus, blind-ending vagina, clitoromegaly, and psychosexual disturbance. Endocrine studies showed normal adrenal function (cortisol response to ACTH stimulation, 13.4-->25.3 microg/dl) and primary hypogonadism (testosterone response to hCG stimulation, 0.57-->0.76 ng/ml; gonadotropin responses to GnRH stimulation: LH, 10-->59 mIU/ml; FSH, 36-->69 mIU/ml), and urinary steroid hormone profile analysis indicated grossly normal steroidogenic enzyme activities. The results suggest that SF-1 haploinsufficiency can selectively impair testicular development and permit the biosynthesis of AMH and testosterone in dysgenetic testes and the production of gonadotropins in pituitary gonadotropes.

Abstract. We have constructed a prototype photoacoustic mammography system (PAM-02) capable of simultaneously acquiring photoacoustic (PA) and ultrasound (US) images. Each PA, US, and fused PA/US image can be acquired over a wide area of the breast using the scanning module of a US transducer, a PA detector, and optical prisms. The resolution of the PA images exhibits improvement from 2 to 1 mm compared to images acquired using our previous prototype. The maximum scan area of PAM-02 is 90 mm along the horizontal axis and 150 mm along the vertical axis. In a phantom experiment, the available depth was at least 45 mm. A representative example of the application of the PAM-02 prototype in clinical research at Kyoto University is presented and shows S-factor images, which are considered an approximation parameter related to hemoglobin saturation of tumor-related blood vessels. We confirmed the applicability of the system for anatomical and biological research. © The Authors. Published by SPIE under a Creative Commons Attribution 3.0 Unported License. Distribution or reproduction of this work in whole or in part requires full attribution of the original publication, including its DOI.

turn changes the effective contrast between the alternating polymer and LC rich layers in the structure. This is a simple and flexible system by which photoresponsive photonic crystals can be fabricated in a single-step process. In addition to the one-dimensionally periodic systems such as those presented here, complex two-and three-dimensionally periodic HPDLC photonic materials could be fabricated [13] with the Azo-LC materials to make dynamic photonic crystals of any structure in a one-step process. Future studies will include fabricating novel photo-optic photonic structures, in addition to probing the ultimate response time of the system, as well as the effects of excitation intensity, wavelength, and azobenzene concentration. ExperimentalHolographic-polymer-dispersed liquid crystal structures containing azobenzene-derived liquid crystals were prepared from a standard prepolymer syrup containing 35 % E7, to which was added an additional 3.5 % BMAB. The preparation of a standard syrup can be found in [10] and [11], for example. The BMAB was synthesized according to [14], and can be commercially obtained from BEAMCo Inc, Winter Park, FL. Sample cells were prepared by placing a small amount of syrup to which a small amount of 8 lm glass spherical spacers were added on indium tin oxide (ITO) coated glass. The resulting cell contains approximately an 8±10 lm layer of photo sensitive syrup between two glass plates. Bragg reflection gratings were prepared using two counter propagating beams incident on the sample cell. This produced a one dimensionally periodic holographic structure with a grating vector perpendicular to the surface of the cell. The initial diffraction efficiency of these gratings was probed at normal incidence and ranged from 45 to 55 %. Control gratings prepared from an identical syrup without BMAB showed diffraction efficiencies of 50 to 55 %. Current studies in bulk have shown that 10 % BMAB in E7 is sufficient to induce an isothermal N±I transition at room temperature [15]. In order to minimize the attenuation of the triggering UV light through the thickness of the sample, it is desirable to use as low a concentration of Azo-LC as is sufficient to observe a complete, isothermal N±I transition. Thus approximately 3.5 % of the weight of the syrup in BMAB was added to the syrup, which constitutes roughly 10 % of the liquid crystal content. A convenient wavelength, 540 nm, was selected for holographic recording such that it did not overlap the cis absorption substantially, which provided for an accurate measurement of the diffraction efficiency.Once recorded, the reflection gratings are characterized in an apparatus which allowed for the introduction of both a UV laser beam (up to 80 mW cm ±2 of 365 nm from and Ar+ laser) and a doubled Nd:YVO 4 CW beam of 532 nm (up to 100 mW cm ±2 ) while the visible transmission spectrum and absorbance at 365 nm are simultaneously recorded. The UV beam was near the peak absorption of the trans conformer of the Azo-LC and produced a discernable change in color ...

Phase-separated Al–Si films composed of Al nanocylinders embedded in an amorphous-Si matrix have been prepared by a sputtering method. By controlling the deposition rate, substrate temperature, and film composition, the average diameter of the Al cylinders can be varied systematically from less than 5to13nm with a cylinder density ranging from 1015 to in excess of 1016cylindersm−2. A three-dimensional simulation of phase separation in binary thin films was performed using a modified Cahn-Hilliard [J. Chem. Phys. 28, 258 (1958)] equation to understand the growth mechanism. The simulation studies indicate that the surface diffusion length and film composition are important factors which determine film morphology. Experimental and simulation studies are compared and discussed.

Photoacoustic (PA) tomography (PAT) is a rapidly developing imaging modality that can provide high contrast and spatial-resolution images of light-absorption distribution in tissue. However, reconstruction of the absorption distribution is affected by nonuniform light fluence. This paper introduces a reconstruction method for reducing amplification of noise and artifacts in low-fluence regions. In this method, fluence compensation is integrated into model-based reconstruction, and the absorption distribution is iteratively updated. At each iteration, we calculate the residual between detected PA signals and the signals computed by a forward model using the initial pressure, which is the product of estimated voxel value and light fluence. By minimizing the residual, the reconstructed values converge to the true absorption distribution. In addition, we developed a matrix compression method for reducing memory requirements and accelerating reconstruction speed. The results of simulation and phantom experiments indicate that the proposed method provides a better contrast-to-noise ratio (CNR) in low-fluence regions. We expect that the capability of increasing imaging depth will broaden the clinical applications of PAT.