Trunk rotation enhances movement of the knee abduction angle while running among female collegiate middle- and long-distance runners

This cohort study aimed to i) clarify the relationship between abduction of the knee joint and trunk motion during running in the stance phase, and ii) clarify the relationship between abduction of the knee joint during running in the stance phase and the amount of trunk rotation measured in a static position. Twenty-nine female collegiate middle- and long-distance runners participated. The knee abduction angle and absolute angles to the floor were calculated using a three-dimensional motion analysis device. Static trunk rotation was calculated. Trunk rotation angle to the supporting side (r = 0.525), thigh posterior tilt angle (r = -0.510), thigh adduction angle (r = 0.417), lower leg anterior tilt angle (r = -0.483), and static trunk rotation to the supporting side (r = -0.429) were significantly correlated with knee abduction angle. Trunk rotation angle to the supporting side (ß = 0. 465), thigh adduction angle (ß = 0.374), lower leg anterior tilt angle (ß = 0.228), and static trunk rotation to the supporting side (ß = -0.256) (R2 = .556) were significantly correlated with the knee abduction angle. The increase or decrease in the knee abduction angle should consider the mutual influence of the lower limb and trunk motion

Extended Superconformal Algebras and Free Field Realizations from Hamiltonian Reduction

We develop the method of the hamiltonian reduction of affine Lie superalgebras to obtain explicit and general expressions both for the classical and the quantum extended superconformal algebras. By performing the gauge transformation which connects the diagonal gauge with the Drinfeld-Sokolov gauge and considering the quantum corrections, we get generic expressions for the classical and quantum free field realizations of the algebras.Comment: 10 pages, NBI-HE-93-1

Novel CUL4B mutation in Cabezas syndrome

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome

Identification of a Functional Variant in the <i>MICA</i> Promoter Which Regulates <i>MICA</i> Expression and Increases HCV-Related Hepatocellular Carcinoma Risk

Hepatitis C virus (HCV) infection is the major cause of hepatocellular carcinoma (HCC) in Japan. We previously identified the association of SNP rs2596542 in the 5' flanking region of the MHC class I polypeptide-related sequence A (MICA) gene with the risk of HCV-induced HCC. In the current study, we performed detailed functional analysis of 12 candidate SNPs in the promoter region and found that a SNP rs2596538 located at 2.8 kb upstream of the MICA gene affected the binding of a nuclear protein(s) to the genomic segment including this SNP. By electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP) assay, we identified that transcription factor Specificity Protein 1 (SP1) can bind to the protective G allele, but not to the risk A allele. In addition, reporter construct containing the G allele was found to exhibit higher transcriptional activity than that containing the A allele. Moreover, SNP rs2596538 showed stronger association with HCV-induced HCC (P = 1.82×10−5 and OR = 1.34) than the previously identified SNP rs2596542. We also found significantly higher serum level of soluble MICA (sMICA) in HCV-induced HCC patients carrying the G allele than those carrying the A allele (P = 0.00616). In summary, we have identified a functional SNP that is associated with the expression of MICA and the risk for HCV-induced HCC.</p

Free Field Representations and Screening Operators for the N=4N=4 Doubly Extended Superconformal Algebras

We present explicit free field representations for the $N=4$ doubly extended superconformal algebra, $\tilde{\cal{A}}_{\gamma}$. This algebra generalizes and contains all previous $N=4$ superconformal algebras. We have found $\tilde{\cal{A}}_{\gamma}$ to be obtained by hamiltonian reduction of the Lie superalgebra $D(2|1;\alpha)$. In addition, screening operators are explicitly given and the associated singular vectors identified. We use this to present a natural conjecture for the Kac determinant generalizing a previous conjecture by Kent and Riggs for the singly extended case. The results support and illuminate several aspects of the characters of this algebra previously obtained by Taormina and one of us.Comment: 15 pages, Late

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Pathogenic variants are found in 5.7% of patients, ranging from 15% in women diagnosed <40 years to 3.2% in patients ≥80 years, with BRCA1/2, explaining two-thirds of pathogenic variants identified at all ages. BRCA1/2, PALB2, and TP53 are significant causative genes. Patients with pathogenic variants in BRCA1/2 or PTEN have significantly younger age at diagnosis. In conclusion, BRCA1/2, PALB2, and TP53 are the major hereditary breast cancer genes, irrespective of age at diagnosis, in Japanese women

Hepatitis E Virus Transmission from Wild Boar Meat

We investigated a case of hepatitis E acquired after persons ate wild boar meat. Genotype 3 hepatitis E virus (HEV) RNA was detected in both patient serum and wild boar meat. These findings provided direct evidence of zoonotic foodborne transmission of HEV from a wild boar to a human

サキシマフヨウとフヨウの繁殖特性

The reproductive characteristic of Hibiscus makinoi Jotani et H. Ohba and H. mutabilis L.（Malvaceae）was studied in Nagasaki Prefecture, Kyushu, southwestern Japan. The former is distributed from the Ryukyu Islands to western Kyushu of Japan and the latter is widely cultivated and sometimes found escaped in natural habitats in western Japan. Compared with H. mutabilis, H. makinoi is delayed about a month in the phenology of flower production. Hibiscus makinoi produced flowers from late September to late October and H. mutabilis from middle or late August to late September. Hibiscus mutabilis was pollinated by Lepidoptera, mainly Cehonodes hylas and Coleoptera such as Oxycetonia jucunda. However, pollinators rarely visited flowers of H. makinoi. This may be due to the late flower season. Pollination experiments with the following four treatments were done : open pollination, autonomous self-pollination, hand self-pollination and hand cross-pollination. The results of fruits set and seed sets indicated that these two Hibiscus species strictly avoid self pollination but are clearly self-compatible

Functional characterisation of a nicotinic acetylcholine receptor alpha subunit from the brown dog tick, Rhipicephalus sanguineus

Open Access funded by Biotechnology and Biological Sciences Research Council Under a Creative Commons license This work was supported by a Biotechnology and Biological Sciences Research Council (UK) Industrial CASE studentship award (BBSSM200411428) to K.L. with co-funding from Pfizer Animal Health, UK. We thank Dr. Andy Ball for help with rearing of ticks.Peer reviewedPublisher PD