Near-IR imaging polarimetry toward a bright-rimmed cloud: Magnetic field in SFO 74

We have made near-infrared (JHKs) imaging polarimetry of a bright-rimmed cloud (SFO 74). The polarization vector maps clearly show that the magnetic field in the layer just behind the bright rim is running along the rim, quite different from its ambient magnetic field. The direction of the magnetic field just behind the tip rim is almost perpendicular to that of the incident UV radiation, and the magnetic field configuration appears to be symmetric as a whole with respect to the cloud symmetry axis. We estimated the column and number densities in the two regions (just inside and far inside the tip rim) and then derived the magnetic field strength, applying the Chandrasekhar-Fermi method. The estimated magnetic field strength just inside the tip rim, ~90 ?G, is stronger than that far inside, ~30 ?G. This suggests that the magnetic field strength just inside the tip rim is enhanced by the UV-radiation-induced shock. The shock increases the density within the top layer around the tip and thus increases the strength of the magnetic field. The magnetic pressure seems to be comparable to the turbulent one just inside the tip rim, implying a significant contribution of the magnetic field to the total internal pressure. The mass-to-flux ratio was estimated to be close to the critical value just inside the tip rim. We speculate that the flat-topped bright rim of SFO 74 could be formed by the magnetic field effect

Nationwide surveillance of bacterial respiratory pathogens conducted by the surveillance committee of Japanese Society of Chemotherapy, the Japanese Association for Infectious Diseases, and the Japanese Society for Clinical Microbiology in 2010: General view of the pathogens\u27 antibacterial susceptibility

The nationwide surveillance on antimicrobial susceptibility of bacterial respiratory pathogens from patients in Japan, was conducted by Japanese Society of Chemotherapy, Japanese Association for Infectious Diseases and Japanese Society for Clinical Microbiology in 2010.The isolates were collected from clinical specimens obtained from well-diagnosed adult patients with respiratory tract infections during the period from January and April 2010 by three societies. Antimicrobial susceptibility testing was conducted at the central reference laboratory according to the method recommended by Clinical and Laboratory Standard Institutes using maximum 45 antibacterial agents.Susceptibility testing was evaluable with 954 strains (206 Staphylococcus aureus, 189 Streptococcus pneumoniae, 4 Streptococcus pyogenes, 182 Haemophilus influenzae, 74 Moraxella catarrhalis, 139 Klebsiella pneumoniae and 160 Pseudomonas aeruginosa). Ratio of methicillin-resistant S.aureus was as high as 50.5%, and those of penicillin-intermediate and -resistant S.pneumoniae were 1.1% and 0.0%, respectively. Among H.influenzae, 17.6% of them were found to be β-lactamase-non-producing ampicillin (ABPC)-intermediately resistant, 33.5% to be β-lactamase-non-producing ABPC-resistant and 11.0% to be β-lactamase-producing ABPC-resistant strains. Extended spectrum β-lactamase-producing K.pneumoniae and multi-drug resistant P.aeruginosa with metallo β-lactamase were 2.9% and 0.6%, respectively.Continuous national surveillance of antimicrobial susceptibility of respiratory pathogens is crucial in order to monitor changing patterns of susceptibility and to be able to update treatment recommendations on a regular basis

Age-specific values of Access anti-Müllerian hormone immunoassay carried out on Japanese patients with infertility: a retrospective large-scale study

Abstract Background The ovarian reserve in women is known to correlate with anti-Müllerian hormone (AMH) levels, and currently the latest, third-generation, fully-automated AMH immunoassays, such as Access and Cobas, are beginning to be used for measuring AMH levels. However, the age-specific reference values obtained for AMH levels have been based on samples from an American population, measured using first-generation immunoassays. In this study, we attempted to determine the age-specific AMH reference values based on a large set of samples taken from Japanese infertile women measured by Access so that they could be used by infertility centers treating Japanese and those with similar racial and life-style characteristics. Methods The study included 5483 Japanese patients who enrolled in infertility treatment programs at two in-vitro fertilization centers, Shimbashi YUME Clinic and Natural ART Clinic Nihombashi in Tokyo, and who had their serum AMH levels measured between December 2015 and November 2017 by Access. Each patient was represented only once in the study. The mean, median, and standard deviation values were obtained from the measured values for single-year intervals from 28 through 48 years of age (21 age groups in total). The 3D-fitted curve of age-specific mean and median values measured by Access was obtained by regression analysis. Results The mean and median values decreased with advancing age (mean: R2 = 0.9864; median: R2 = 0.9926). In all age groups, the mean values were higher than the median values; however, the differences between these values decreased with increasing age. Conclusions The age-specific AMH reference values measured by Access in this study may serve as a useful diagnostic marker in infertility centers, especially those treating Japanese patients or patients with similar characteristics

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disorder characterized by the degeneration of motor neurons and typically results in death within 3-5 years from onset. Familial ALS (FALS) comprises 5%-10% of ALS cases, and the identification of genes associated with FALS is indispensable to elucidating the molecular pathogenesis.We identified a Japanese family affected by late-onset, autosomal-dominant ALS in which mutations in genes known to be associated with FALS were excluded. A whole- genome sequencing and parametric linkage analysis under the assumption of an autosomal-dominant mode of inheritance with incomplete penetrance revealed the mutation c.2780G>A (p. Arg927Gln) in ERBB4. An extensive mutational analysis revealed the same mutation in a Canadian individual with familial ALS and a de novo mutation, c.3823C>T (p. Arg1275Trp), in a Japanese simplex case. These amino acid substitutions involve amino acids highly conserved among species, are predicted as probably damaging, and are located within a tyrosine kinase domain (p. Arg927Gln) or a C-terminal domain (p. Arg1275Trp), both of which mediate essential functions of ErbB4 as a receptor tyrosine kinase. Functional analysis revealed that these mutations led to a reduced autophosphorylation of ErbB4 upon neuregulin-1 (NRG-1) stimulation. Clinical presentations of the individuals with mutations were characterized by the involvement of both upper and lower motor neurons, a lack of obvious cognitive dysfunction, and relatively slow progression. This study indicates that disruption of the neuregulin-ErbB4 pathway is involved in the pathogenesis of ALS and potentially paves the way for the development of innovative therapeutic strategies such using NRGs or their agonists to upregulate ErbB4 functions.6 page(s

Variants associated with Gaucher disease in multiple system atrophy

International audienceObjective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case–control series.Methods : We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North American). We focused solely on Gaucher-disease-causing GBA variants.Results : In the Japanese series, we found nine carriers among the MSA patients (1.65%) and eight carriers among the control subjects (0.89%). In the European series, we found three carriers among the MSA patients (1.35%) and two carriers among the control subjects (0.63%). In the North American series, we found five carriers among the MSA patients (2.91%) and one carrier among the control subjects (0.34%). Subjecting each series to a Mantel–Haenszel analysis yielded a pooled odds ratio (OR) of 2.44 (95% confidence interval [CI], 1.14–5.21) and a P-value of 0.029 without evidence of significant heterogeneity. Logistic regression analysis yielded similar results, with an adjusted OR of 2.43 (95% CI 1.15–5.37) and a P-value of 0.022. Subtype analysis showed that Gaucher-disease-causing GBA variants are significantly associated with MSA cerebellar subtype (MSA-C) patients (P = 7.3 × 10−3).Interpretation : The findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA

Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration

Background: Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely considered to be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement of genetic components. Methods: In combination with linkage analysis, we performed whole-genome sequencing of a sample obtained from a member of a multiplex family in whom multiple-system atrophy had been diagnosed on autopsy. We also performed mutational analysis of samples from members of five other multiplex families and from a Japanese series (363 patients and two sets of controls, one of 520 persons and one of 2383 persons), a European series (223 patients and 315 controls), and a North American series (172 patients and 294 controls). On the basis of these analyses, we used a yeast complementation assay and measured enzyme activity of parahydroxybenzoate-polyprenyl transferase. This enzyme is encoded by the gene COQ2 and is essential for the biosynthesis of coenzyme Q10. Levels of coenzyme Q10 in lymphoblastoid cells and brain tissue were measured on high-performance liquid chromatography. Results: We identified a homozygous mutation (M78V-V343A/M78V-V343A) and compound heterozygous mutations (R337X/V343A) in COQ2 in two multiplex families. Furthermore, we found that a common variant (V343A) and multiple rare variants in COQ2, all of which are functionally impaired, are associated with sporadic multiple-system atrophy. The V343A variant was exclusively observed in the Japanese population. Conclusions: Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ2 activities in the pathogenesis of this disease.12 page(s