Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

Facioscapulohumeral dystrophy type1 (FSHD1) patients with a shortened D4Z4 repeat containing the DUX4 gene have a broad spectrum of clinical manifestations. In addition, high expression of DUX4 protein with an aberrant C terminus is frequently identified in B cell acute lymphoblastic leukemia. We investigated clinical manifestations in 31 FSHD1 patients and 30 non-affected individuals. Gastrointestinal cancers (gastric and colorectal cancers) increased after the age of 40 years and were more frequently observed in FSHD1 patients (n = 10) than in non-affected individuals (n = 2, p = 0.0217), though the incidence of cancers occurring in non-gastrointestinal tissues of FSHD1 patients was the same as that of non-affected individuals (p > 0.999). These comorbidities of FSHD1 patients were not associated with D4Z4 repeat number. Our results suggest that gastrointestinal cancers are among the extramuscular manifestations of adult FSHD1 patients, and do not depend on D4Z4 repeat number

Photoacoustic mammography: initial clinical results.

[Purpose]Photoacoustic tomography can image the hemoglobin distribution and oxygenation state inside tissue with high spatial resolution. The purpose of this study is to investigate its clinical usefulness for diagnosis of breast cancer and evaluation of therapeutic response in relation to other diagnostic modalities. [Materials and methods]Using a prototype machine for photoacoustic mammography (PAM), 27 breast tumor lesions, including 21 invasive breast cancer (IBC), five ductal carcinoma in situ (DCIS), and one phyllodes tumor, were measured. Nine out of twenty-one IBC patients had received primary systemic therapy (PST). [Results]Eight out of twelve IBC without PST were visible. Notably, detection was possible in all five cases with DCIS, whereas it was not in one case with phyllodes tumor. Seven out of nine IBC with PST were assigned as visible in spite of decreased size of tumor after PST. The mean value of hemoglobin saturation in the visible lesions was 78.6 %, and hemoglobin concentration was 207 μM. The tumor images of PAM were comparable to those of magnetic resonance imaging (MRI). [Conclusions]It is suggested that PAM can image tumor vascularity and oxygenation, which may be useful for diagnosis and characterization of breast cancer

Kinematic Structure of Molecular Gas around High-mass Star YSO, Papillon Nebula, in N159 East in the Large Magellanic Cloud

We present the ALMA Band 3 and Band 6 results of 12CO(2-1), 13$CO(2-1), H30alpha recombination line, free-free emission around 98 GHz, and the dust thermal emission around 230 GHz toward the N159 East Giant Molecular Cloud (N159E) in the Large Magellanic Cloud (LMC). LMC is the nearest active high-mass star forming face-on galaxy at a distance of 50 kpc and is the best target for studing high-mass star formation. ALMA observations show that N159E is the complex of filamentary clouds with the width and length of ~1 pc and 5 pc - 10 pc, respectively. The total molecular mass is 0.92 x 10^5 Msun from the 13CO(2-1) intensity. N159E harbors the well-known Papillon Nebula, a compact high-excitation HII region. We found that a YSO associated with the Papillon Nebula has the mass of 35 Msun and is located at the intersection of three filamentary clouds. It indicates that the formation of the high-mass YSO was induced by the collision of filamentary clouds. Fukui et al. 2015 reported a similar kinematic structure toward a YSO in the N159 West region which is another YSO that has the mass larger than 35 Msun in these two regions. This suggests that the collision of filamentary clouds is a primary mechanism of high-mass star formation. We found a small molecular hole around the YSO in Papillon Nebula with sub-pc scale. It is filled by free-free and H30alpha emission. Temperature of the molecular gas around the hole reaches ~ 80 K. It indicates that this YSO has just started the distruction of parental molecular cloud.Comment: 28 pages, 7 figures. Submitted to Ap

Distance determination of molecular clouds in the 1st quadrant of the Galactic plane using deep learning : I. Method and Results

Machine learning has been successfully applied in varied field but whether it is a viable tool for determining the distance to molecular clouds in the Galaxy is an open question. In the Galaxy, the kinematic distance is commonly employed as the distance to a molecular cloud. However, there is a problem in that for the inner Galaxy, two different solutions, the ``Near'' solution, and the ``Far'' solution, can be derived simultaneously. We attempted to construct a two-class (``Near'' or ``Far'') inference model using a Convolutional Neural Network (CNN), a form of deep learning that can capture spatial features generally. In this study, we used the CO dataset toward the 1st quadrant of the Galactic plane obtained with the Nobeyama 45-m radio telescope (l = 62-10 degree, |b| < 1 degree). In the model, we applied the three-dimensional distribution (position-position-velocity) of the 12CO (J=1-0) emissions as the main input. The dataset with ``Near'' or ``Far'' annotation was made from the HII region catalog of the infrared astronomy satellite WISE to train the model. As a result, we could construct a CNN model with a 76% accuracy rate on the training dataset. By using the model, we determined the distance to molecular clouds identified by the CLUMPFIND algorithm. We found that the mass of the molecular clouds with a distance of < 8.15 kpc identified in the 12CO data follows a power-law distribution with an index of about -2.3 in the mass range of M >10^3 Msun. Also, the detailed molecular gas distribution of the Galaxy as seen from the Galactic North pole was determined.Comment: 29 pages, 12 figure

High-mass star formation triggered by collision between CO filaments in N159 West in the Large Magellanic Cloud

We have carried out 13CO(J=2-1) observations of the active star-forming region N159 West in the LMC with ALMA. We have found that the CO distribution at a sub-pc scale is highly elongated with a small width. These elongated clouds called "filaments" show straight or curved distributions with a typical width of 0.5-1.0pc and a length of 5-10pc. All the known infrared YSOs are located toward the filaments. We have found broad CO wings of two molecular outflows toward young high-mass stars in N159W-N and N159W-S, whose dynamical timescale is ~10^4 yrs. This is the first discovery of protostellar outflow in external galaxies. For N159W-S which is located toward an intersection of two filaments we set up a hypothesis that the two filaments collided with each other ~10^5 yrs ago and triggered formation of the high-mass star having ~37 Mo. The colliding clouds show significant enhancement in linewidth in the intersection, suggesting excitation of turbulence in the shocked interface layer between them as is consistent with the magneto-hydro-dynamical numerical simulations (Inoue & Fukui 2013). This turbulence increases the mass accretion rate to ~6x10^-4 Mo yr^-1, which is required to overcome the stellar feedback to form the high-mass star.Comment: 20 pages, 3 figures, accepted for publication in ApJ

Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population

Predicting pathogenic germline variants (PGVs) in breast cancer patients is important for selecting optimal therapeutics and implementing risk reduction strategies. However, PGV risk factors and the performance of prediction methods in the Japanese population remain unclear. We investigated clinicopathological risk factors using the Tyrer-Cuzick (TC) breast cancer risk evaluation tool to predict BRCA PGVs in unselected Japanese breast cancer patients (n = 1, 995). Eleven breast cancer susceptibility genes were analyzed using target-capture sequencing in a previous study; the PGV prevalence in BRCA1, BRCA2, and PALB2 was 0.75%, 3.1%, and 0.45%, respectively. Significant associations were found between the presence of BRCA PGVs and early disease onset, number of familial cancer cases (up to third-degree relatives), triple-negative breast cancer patients under the age of 60, and ovarian cancer history (all P < .0001). In total, 816 patients (40.9%) satisfied the National Comprehensive Cancer Network (NCCN) guidelines for recommending multigene testing. The sensitivity and specificity of the NCCN criteria for discriminating PGV carriers from noncarriers were 71.3% and 60.7%, respectively. The TC model showed good discrimination for predicting BRCA PGVs (area under the curve, 0.75; 95% confidence interval, 0.69-0.81). Furthermore, use of the TC model with an optimized cutoff of TC score ≥0.16% in addition to the NCCN guidelines improved the predictive efficiency for high-risk groups (sensitivity, 77.2%; specificity, 54.8%; about 11 genes). Given the influence of ethnic differences on prediction, we consider that further studies are warranted to elucidate the role of environmental and genetic factors for realizing precise prediction

Waon therapy improves the prognosis of patients with chronic heart failure

Summary Background: We developed a Waon therapy (soothing warm therapy) and have previously reported that repeated Waon therapy improves hemodynamics, peripheral vascular function, arrhythmias, and clinical symptoms in patients with chronic heart failure (CHF). The aim of this study was to investigate the effect of Waon therapy on the prognosis of CHF patients. Patients and methods: We studied 129 patients with CHF in NYHA functional class III or IV who were admitted to our hospital between January 1999 and March 2001. In the Waon therapy group, 64 patients were treated with a far infrared-ray dry sauna at 60 • C for 15 min and then kept on bed rest with a blanket for 30 min. The patients were treated daily for 5 days during admission, and then at least twice a week after discharge. In the control group, 65 patients, matched for age, gender, and NYHA functional class, were treated with traditional CHF therapy. The follow-up time was scheduled for 5 years. Results: Recent, complete follow-up data on each patient were obtained. The overall survival rate was 84.5% (Kaplan-Meier estimate). Twelve patients died in the control group and 8 patients died in the Waon therapy group at 60 months of follow-up