Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials

Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP

Association between the rs1465040 single-nucleotide polymorphism close to the transient receptor potential subfamily C member 3 (TRPC3) gene and postoperative analgesic requirements

AbstractAn association between postoperative analgesic requirements in subjects who underwent orthognathic surgery and the rs1465040 single-nucleotide polymorphism close to the transient receptor potential subfamily C member 3 (TRPC3) gene was suggested by our previous genome-wide association study. To verify this association, we analyzed the association between the rs1465040 SNP and analgesic requirements, including opioid requirements, after open abdominal surgery. The association between the rs1465040 SNP and postoperative analgesic requirements was confirmed in the open abdominal surgery group (P = 0.036), suggesting that the TRPC3 SNP may contribute to predicting postoperative analgesic requirements

Cosmology from cosmic shear power spectra with Subaru Hyper Suprime-Cam first-year data

We measure cosmic weak lensing shear power spectra with the Subaru Hyper Suprime-Cam (HSC) survey first-year shear catalog covering 137deg$^2$ of the sky. Thanks to the high effective galaxy number density of $\sim$17 arcmin$^{-2}$ even after conservative cuts such as magnitude cut of $i<24.5$ and photometric redshift cut of $0.3\leq z \leq 1.5$, we obtain a high significance measurement of the cosmic shear power spectra in 4 tomographic redshift bins, achieving a total signal-to-noise ratio of 16 in the multipole range $300 \leq \ell \leq 1900$. We carefully account for various uncertainties in our analysis including the intrinsic alignment of galaxies, scatters and biases in photometric redshifts, residual uncertainties in the shear measurement, and modeling of the matter power spectrum. The accuracy of our power spectrum measurement method as well as our analytic model of the covariance matrix are tested against realistic mock shear catalogs. For a flat $\Lambda$ cold dark matter ($\Lambda$CDM) model, we find $S_8\equiv \sigma_8(\Omega_{\rm m}/0.3)^\alpha=0.800^{+0.029}_{-0.028}$ for $\alpha=0.45$ ($S_8=0.780^{+0.030}_{-0.033}$ for $\alpha=0.5$) from our HSC tomographic cosmic shear analysis alone. In comparison with Planck cosmic microwave background constraints, our results prefer slightly lower values of $S_8$, although metrics such as the Bayesian evidence ratio test do not show significant evidence for discordance between these results. We study the effect of possible additional systematic errors that are unaccounted in our fiducial cosmic shear analysis, and find that they can shift the best-fit values of $S_8$ by up to $\sim 0.6\sigma$ in both directions. The full HSC survey data will contain several times more area, and will lead to significantly improved cosmological constraints.Comment: 43 pages, 21 figures, accepted for publication in PAS

First Data Release of the Hyper Suprime-Cam Subaru Strategic Program

The Hyper Suprime-Cam Subaru Strategic Program (HSC-SSP) is a three-layered imaging survey aimed at addressing some of the most outstanding questions in astronomy today, including the nature of dark matter and dark energy. The survey has been awarded 300 nights of observing time at the Subaru Telescope and it started in March 2014. This paper presents the first public data release of HSC-SSP. This release includes data taken in the first 1.7 years of observations (61.5 nights) and each of the Wide, Deep, and UltraDeep layers covers about 108, 26, and 4 square degrees down to depths of i~26.4, ~26.5, and ~27.0 mag, respectively (5sigma for point sources). All the layers are observed in five broad bands (grizy), and the Deep and UltraDeep layers are observed in narrow bands as well. We achieve an impressive image quality of 0.6 arcsec in the i-band in the Wide layer. We show that we achieve 1-2 per cent PSF photometry (rms) both internally and externally (against Pan-STARRS1), and ~10 mas and 40 mas internal and external astrometric accuracy, respectively. Both the calibrated images and catalogs are made available to the community through dedicated user interfaces and database servers. In addition to the pipeline products, we also provide value-added products such as photometric redshifts and a collection of public spectroscopic redshifts. Detailed descriptions of all the data can be found online. The data release website is https://hsc-release.mtk.nao.ac.jp/.Comment: 34 pages, 20 figures, 7 tables, moderate revision, accepted for publication in PAS

The Hyper Suprime-Cam SSP survey: Overview and survey design

Hyper Suprime-Cam (HSC) is a wide-field imaging camera on the prime focus of the 8.2-m Subaru telescope on the summit of Mauna Kea in Hawaii. A team of scientists from Japan, Taiwan, and Princeton University is using HSC to carry out a 300-night multi-band imaging survey of the high-latitude sky. The survey includes three layers: the Wide layer will cover 1400 deg2 in five broad bands (grizy), with a 5 σ point-source depth of r ≈ 26. The Deep layer covers a total of 26 deg2 in four fields, going roughly a magnitude fainter, while the UltraDeep layer goes almost a magnitude fainter still in two pointings of HSC (a total of 3.5 deg2). Here we describe the instrument, the science goals of the survey, and the survey strategy and data processing. This paper serves as an introduction to a special issue of the Publications of the Astronomical Society of Japan, which includes a large number of technical and scientific papers describing results from the early phases of this survey