The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or ...autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN‐related genes was performed using a next‐generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in 5 patients. This mutation was homozygous in 4 cases and of a compound heterozygous genotype in 1 case. Geographic and haplotype analysis of all 5 patients suggested a founder event. In addition, a novel heterozygous nonsense variant, c.2615C>G (p.Ser872*), was identified. All the 5 patients presented with severe sensory and autonomic dysfunctions at birth or during adolescence. In 2 patients, an uncommon phenotype of acute pathological pain presented at ~50 years of age. Here, we present the first founder mutation of WNK1/HSN2, in addition to French Canadian, which accounts for ~15.2% of Japanese patients with HSAN in our cohort. We have also reviewed all previously described mutations in WNK1/HSN2 and reconciled their nomenclature strategy on the basis of the current longest transcript.
We report a (51)V-NMR study on a high-quality powder sample of volborthite Cu3V2O7(OH)2 . 2H2O, a spin-1/2 Heisenberg antiferromagnet on a distorted kagome lattice formed by isosceles triangles. In ...the magnetic fields below 4.5 T, a sharp peak in the nuclear spin-lattice relaxation rate 1/T(1) accompanied with line broadening revealed a magnetic transition near 1 K. The low temperature phase shows anomalies such as a Lorentzian line shape, a 1/T(1) proportional, variantT behavior indicating dense low-energy excitations, and a large spin-echo decay rate 1/T(2) pointing to unusually slow fluctuations. Another magnetic phase appears above 4.5 T with less anomalous spectral shape and dynamics.
Na4Ir3O8 is a unique case of a hyperkagome 3D corner sharing triangular lattice that can be decorated with quantum spins. It has spurred a lot of theoretical interest as a spin liquid candidate. We ...present a comprehensive set of NMR data taken on both the Na23 and O17 sites. We show that disordered magnetic freezing of all Ir sites sets in below Tf~7 K, well below J=300 K, with a drastic slowing down of fluctuations to a static state revealed by our T1 measurements. Above typically 2Tf, physical properties are relevant to the spin liquid state induced by this exotic geometry. While the shift data show that the susceptibility levels off below 80 K, 1/T1 has little variation from 300 K to 2Tf. We discuss the implication of our results in the context of published experimental and theoretical work.
We have synthesized high-quality single crystals of volborthite, a seemingly distorted kagome antiferromagnet, and carried out high-field magnetization measurements up to 74 T and ^{51}V NMR ...measurements up to 30 T. An extremely wide 1/3 magnetization plateau appears above 28 T and continues over 74 T at 1.4 K, which has not been observed in previous studies using polycrystalline samples. NMR spectra reveal an incommensurate order (most likely a spin-density wave order) below 22 T and a simple spin structure in the plateau phase. Moreover, a novel intermediate phase is found between 23 and 26 T, where the magnetization varies linearly with magnetic field and the NMR spectra indicate an inhomogeneous distribution of the internal magnetic field. This sequence of phases in volborthite bears a striking similarity to those of frustrated spin chains with a ferromagnetic nearest-neighbor coupling J_{1} competing with an antiferromagnetic next-nearest-neighbor coupling J_{2}.
To cite this article: Ohta K, Bousquet P‐J, Aizawa H, Akiyama K, Adachi M, Ichinose M, Ebisawa M, Tamura G, Nagai A, Nishima S, Fukuda T, Morikawa A, Okamoto Y, Kohno Y, Saito H, Takenaka H, Grouse ...L, Bousquet J. Prevalence and impact of rhinitis in asthma: SACRA, a cross‐sectional nation‐wide study in Japan. Allergy 2011; 66: 1287–1295.
Background: Asthma and rhinitis are common co‐morbidities everywhere in the world but nation‐wide studies assessing rhinitis in asthmatics using questionnaires based on guidelines are not available.
Objective: To assess the prevalence, classification, and severity of rhinitis using the Allergic Rhinitis and its Impact on Asthma (ARIA) criteria in Japanese patients with diagnosed and treated asthma.
Methods: The study was performed from March to August 2009. Patients in physicians’ waiting rooms, or physicians themselves, filled out questionnaires on rhinitis and asthma based on ARIA and Global Initiative for Asthma (GINA) diagnostic guides. The patients answered questions on the severity of the diseases and a Visual Analog Scale. Their physicians made the diagnosis of rhinitis.
Results: In this study, 1910 physicians enrolled 29 518 asthmatics; 15 051 (51.0%) questionnaires were administered by physician, and 26 680 (90.4%) patients were evaluable. Self‐ and physician‐administered questionnaires gave similar results. Rhinitis was diagnosed in 68.5% of patients with self‐administered questionnaires and 66.2% with physician‐administered questionnaires. In this study, 994 (7.6%) patients with self‐administered and 561 (5.2%) patients with physician‐administered questionnaires indicated rhinitis symptoms on the questionnaires without a physician’s diagnosis of rhinitis. Most patients with the physician’s diagnosis of rhinitis had moderate/severe rhinitis. Asthma control was significantly impaired in patients with a physician’s diagnosis of rhinitis for all GINA clinical criteria except exacerbations. There were significantly more patients with uncontrolled asthma as defined by GINA in those with a physician’s diagnosis of rhinitis (25.4% and 29.7%) by comparison with those without rhinitis (18.0% and 22.8%).
Conclusion: Rhinitis is common in asthma and impairs asthma control.
Numerous cross-sectional epidemiological studies suggest that obesity is associated with periodontal disease. This longitudinal study tested whether body mass index (BMI) was related to the ...development of periodontal disease in a sample of employed Japanese participants. Data are from the statutory medical checkups routinely collected for employees in and around Nagoya, Japan. The authors tested the relationship between BMI at baseline and the 5-year incidence of periodontal disease in a sample of 2787 males and 803 females. The hazard ratios for developing periodontal disease after 5 years were 1.30 (P < .001) and 1.44 (P = .072) in men and 1.70 (P < .01) and 3.24 (P < .05) in women for those with BMIs of 25-30 and ≥ 30, respectively, compared to those with BMI < 22, after adjusting for age, smoking status, and clinical history of diabetes mellitus. These findings demonstrate a dose-response relationship between BMI and the development of periodontal disease in a population of Japanese individuals.
A method of estimating the propagation delay between two remote sites using a wireless communication module that is compatible with IEEE 802.15.4g is proposed. In our previous paper, we reported that ...propagation delay due to water vapor can be estimated using digital terrestrial broadcasting waves, which is a passive method from the user's view point. In this paper, we propose an active method that allows the propagation delay between two remote sites of the user's choice to be monitored, as long as a line of sight exists. A real‐time propagation delay monitoring system with wireless communication modules, (wireless two‐way interferometry Wi‐Wi modules,) is developed and tested. The data obtained using Wi‐Wi modules separated by 4.25 km show about 14‐cm variation of propagation delay in 1 day, in good agreement with values obtained by ground‐based meteorological observation. This study shows that this technique enables measurement of the surface propagation delay in the horizontal direction with millimeter precision and high spatial and temporal resolution at a low cost.
Key Points
A method of estimating the propagation delay due to water vapor using a device with wireless two‐way interferometry (Wi‐Wi) is proposed
The propagation delay measured by this method shows good agreement with that estimated by ground‐based meteorological observation
The module is low in cost, power consumption, and volume as it is based on a commercial wireless communication chip
Hypopharyngeal squamous cell carcinoma (HSCC) is an aggressive malignancy with one of the worst prognoses among all head and neck cancers. Greater understanding of the pertinent molecular oncogenic ...pathways could help improve diagnosis, therapy, and prevention of this disease. The aim of this study was to identify tumour-suppressive microRNAs (miRNAs), based on miRNA expression signatures from clinical HSCC specimens, and to predict their biological target genes.
Expression levels of 365 human mature miRNAs from 10 HSCC clinical samples were screened using stem-loop real-time quantitative PCR. Downregulated miRNAs were used in cell proliferation assays to identify a tumour-suppressive miRNA. Genome-wide gene expression analyses were then performed to identify the target genes of the tumour-suppressive miRNA.
Expression analysis identified 11 upregulated and 31 downregulated miRNAs. Gain-of-function analysis of the downregulated miRNAs revealed that miR-489 inhibited cell growth in all head and neck cancer cell lines examined. The gene PTPN11 coding for a cytoplasmic protein tyrosine phosphatase containing two Src Homology 2 domains was identified as a miR-489-targeted gene. Knockdown of PTPN11 resulted in the inhibition of cell proliferation in head and neck SCC cells.
Identification of the tumour-suppressive miRNA miR-489 and its target, PTPN11, might provide new insights into the underlying molecular mechanisms of HSCC.
Immature and unstable tumor vasculature provides an aberrant tumor microenvironment and leads to resistance of tumors to conventional therapy. Hence, normalization of tumor vessels has been reported ...to improve the effect of immuno-, chemo- and radiation therapy. However, the humoral factors, which can effectively induce maturation of tumor vasculature, have not been elucidated. In this study, we found that the novel peptide apelin and its receptor APJ can induce the morphological and functional maturation of blood vessels in tumors. This apelin-induced tumor vascular maturation enhances the efficacy of cancer dendritic cell-based immunotherapy and significantly suppresses tumor growth by promoting the infiltration of invariant natural killer T cells into the central region of the tumor and thereby robustly inducing apoptosis of tumor cells. Additionally, we showed APJ expression to be enhanced in the tumor endothelium in comparison with normal-state endothelial cells. These findings provide a new target for tumor vascular-specific maturation, which is expected to improve the efficacy of conventional cancer therapies.
We aimed to validate the reliability of the Medical Outcomes Study Short Form-36 (SF-36) among Japanese patients with systemic lupus erythematosus (SLE). Japanese patients with SLE (n = 233) ...completed the SF-36 and other related demographic questionnaires, and physicians simultaneously completed the SLE Disease Activity Index 2000 (SLEDAI-2K) and the Systemic Lupus International Collaborating Clinics Damage Index (SDI). Patients were prospectively followed for a repeat assessment the following year. The SF-36 subscales demonstrated acceptable internal consistency (Cronbach’s α of 0.85–0.89), and an overall good test–retest reliability (intraclass correlation coefficient >0.70). The average baseline SF-36 subscale/summary scores except for “bodily pain” were significantly lower than those of the Japanese general population (p < 0.05). The SDI showed an inverse correlation with the SF-36 subscale/summary scores except for “vitality” and “mental component summary” at baseline, whereas the SLEDAI-2K did not. In the second year, “social functioning” and “mental component summary” of the SF-36 deteriorated among patients whose SDI or SLEDAI-2K score increased (effect sizes < −0.20). In conclusion, the SF-36 demonstrated acceptable reliability among Japanese patients with SLE. Health-related quality of life measured by the SF-36 was reduced in Japanese patients with SLE and associated with disease damage, rather than disease activity.
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