A Case of Orbital Xanthogranuloma Treated by Surgical Excision

Orbital xanthogranuloma is an uncommon tumor. It is usually associated with a systemic or hematological disease. This report presents a rare case of orbital xanthogranuloma associated with heart disease and thrombocytopenia. A 52-year-old female presented with a bilateral periorbital subcutaneous tumor that had existed for 3 years. Although immunoglobulin levels were within the normal limits, thrombocytopenia, slight anemia and increased levels of C-reactive protein and alkaline phosphatase were observed. The mass was excised successfully. The malar flap elevation technique made it easy to approach the periorbital subcutaneous mass. A histopathological study led to a diagnosis of xanthogranuloma based on the presence of infiltration of histiocytes and Touton-type giant cells

Does motivation improve when benefits to friends are expected? : Investigation with a hypothetical situation

The aim of this study was to investigate whether or not achievement behaviors were promoted if that behavior was also expected to be beneficial to friends. We used a viguette involving a part-time job situation. Participants were 106 university students. Participants who were instructed that any overtime they worked would help their friends' jobs worked longer than those who did not receive this instruction. In addition, we found work rate was related to specific personal traits. Work rate was positively correlated with sensitivity to rejection, and negatively correlated with individual-oriented motivation. These results suggest that expecting some benefit to friends increased achievement behaviors, although the amount of increase differed depending on personal traits

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.

Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise role in RNA splicing has remained unclear. Here we characterize ZRSR2 as an essential component of the minor spliceosome (U12 dependent) assembly. shRNA-mediated knockdown of ZRSR2 leads to impaired splicing of the U12-type introns and RNA-sequencing of MDS bone marrow reveals that loss of ZRSR2 activity causes increased mis-splicing. These splicing defects involve retention of the U12-type introns, while splicing of the U2-type introns remain mostly unaffected. ZRSR2-deficient cells also exhibit reduced proliferation potential and distinct alterations in myeloid and erythroid differentiation in vitro. These data identify a specific role for ZRSR2 in RNA splicing and highlight dysregulated splicing of U12-type introns as a characteristic feature of ZRSR2 mutations in MDS

Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

Background The decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by lifestyle habits or environmental factors and by inherited factors. However, genetic factors contributing to individual differences in sperm motility remain unclear. To identify genetic factors that influence human sperm motility, we performed a genome-wide association study (GWAS) of sperm motility. Methods A two-stage GWAS was conducted using 811 Japanese men in a discovery stage, followed by a replication study using an additional 779 Japanese men. Results In the two-staged GWAS, a single nucleotide polymorphism rs3791686 in the intron of gene for erb-b2 receptor tyrosine kinase 4 (ERBB4) on chromosome 2q34 was identified as a novel locus for sperm motility, as evident from the discovery and replication results using meta-analysis (β=−4.01, combined P=5.40×10−9). Conclusions Together with the previous evidence that Sertoli cell-specific Erbb4-knockout mice display an impaired ability to produce motile sperm, this finding provides the first genetic evidence for further investigation of the genome-wide significant association at the ERBB4 locus in larger studies across diverse human populations

MYC-type transcription factors, MYC67 and MYC70, interact with ICE1 and negatively regulate cold tolerance in Arabidopsis

The expression of hundreds of genes is induced by low temperatures via a cold signaling pathway. ICE1, a MYC-type transcription factor, plays an important role in the induction of CBF3/DREB1A to control cold-responsive genes and cold tolerance. To elucidate other molecular factors, a yeast 2-hybrid screening was performed. Two MYC-type transcription factors, MYC67 and MYC70, were identified as ICE1-interacting proteins. The myc mutants were more tolerant to freezing temperatures than wild type. CBF3/DREB1A and other cold-responsive genes were up-regulated in the myc mutants. Overexpression of the MYC genes increased the cold sensitivity and down-regulated the expression of cold-responsive genes. The MYC proteins interacted with the cis-elements in the CBF3/DREB1A promoter, probably to interfere interaction between ICE1 and the cis-elements. Taken together, these results demonstrate that MYC67 and MYC70, ICE1 interactors, negatively regulate cold-responsive genes and cold tolerance

Zinc is a novel intracellular second messenger

Zinc is an essential trace element required for enzymatic activity and for maintaining the conformation of many transcription factors; thus, zinc homeostasis is tightly regulated. Although zinc affects several signaling molecules and may act as a neurotransmitter, it remains unknown whether zinc acts as an intracellular second messenger capable of transducing extracellular stimuli into intracellular signaling events. In this study, we report that the cross-linking of the high affinity immunoglobin E receptor (Fcɛ receptor I [FcɛRI]) induced a release of free zinc from the perinuclear area, including the endoplasmic reticulum in mast cells, a phenomenon we call the zinc wave. The zinc wave was dependent on calcium influx and mitogen-activated protein kinase/extracellular signal-regulated kinase kinase activation. The results suggest that the zinc wave is involved in intracellular signaling events, at least in part by modulating the duration and strength of FcɛRI-mediated signaling. Collectively, our findings indicate that zinc is a novel intracellular second messenger

Replication study and meta-analysis of human nonobstructive azoospermia in Japanese populations

Recently, a Chinese genomewide association study (GWAS) identified four autosomal single-nucleotide polymorphism (SNP) loci as being significantly associated with risk factors for nonobstructive azoospermia (NOA; P , 5 3 108 ). In the present study, we performed a replication study on two Japanese cohorts from different institutions in order to evaluate whether SNP loci are associated with NOA. The four SNPs (rs12097821, rs2477686, rs10842262, and rs6080550) reported in the Chinese GWAS were genotyped in 490 NOA patients and 1167 controls. To assess the significance of the associations between each of the four SNPs and NOA in the Japanese population, the association results for the two cohorts were combined by meta-analysis. In the meta-analysis, the combined per-allele odds ratios (ORs) for the four SNPs and their respective 95% confidence intervals (CIs) were as follows: rs12097821, OR ¼ 1.10 (CI ¼ 0.89–1.37); rs2477686, OR ¼ 1.11 (CI ¼ 0.87–1.43); rs10842262, OR ¼ 1.11 (CI ¼ 0.94–1.32); and rs6080550, OR ¼ 0.96 (CI ¼ 0.76–1.21). None of the SNPs was significantly associated with NOA (P . 0.05). However, three of four SNPs (rs12097821, rs2477686, and rs10842262) showed associations in the same direction in Japanese men as those reported in the Chinese GWAS. To determine whether the four SNPs are genetic risk factors for NOA, the effect sizes of NOA risk factors require further investigation using larger indepen dent sets of case-control samples of populations, including Japanese and Chinese populations

Labelling of Endogenous Target Protein via N–S Acyl Transfer-Mediated Activation of N-Sulfanylethylanilide

The ligand-dependent incorporation of a reporter molecule (e.g., fluorescence dye or biotin) onto a endogenous target protein has emerged as an important strategy for elucidating protein function using various affinity-based labelling reagents consisting of reporter, ligand and reactive units. Conventional labelling reagents generally use a weakly activated reactive unit, which can result in the non-specific labelling of proteins in a ligand-independent manner. In this context, the activation of a labelling reagent through a targeted protein-ligand interaction could potentially overcome the problems associated with conventional affinity-based labelling reagents. We hypothesized that this type of protein-ligand-interaction-mediated activation could be accomplished using N-sulfanylethylanilide (SEAlide) as the reactive unit in the labelling reagent. Electrophilically unreactive amide-type SEAlide can be activated by its conversion to the corresponding active thioester in the presence of a phosphate salt, which can act as an acid-base catalyst. It has been suggested that protein surfaces consisting of hydrophilic residues such as amino, carboxyl and imidazole groups could function as acid-base catalysts. We therefore envisioned that a SEAlide-based labelling reagent (SEAL) bearing SEAlide as a reactive unit could be activated through the binding of the SEAL with a target protein. Several SEALs were readily prepared in this study using standard 9-fluorenylmethyloxycarbonyl (Fmoc)-based solid-phase protocols. These SEAL systems were subsequently applied to the ligand-dependent labelling of human carbonic anhydrase (hCA) and cyclooxyganese 1. Although we have not yet obtained any direct evidence for the target protein-mediated activation of the SEAlide unit, our results for the reaction of these SEALs with hCA1 or butylamine indirectly support our hypothesis. The SEALs reported in this study represent valuable new entries to the field of affinity-based labelling reagents and are expected to show great utility in protein labelling