Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

Primer sequences utilized in BS/oxBS pyrosequencing and cloning-based sequencing. (XLSX 9.68 kb

Primary pericranial Ewing\u27s sarcoma on the temporal bone: A case report.

BACKGROUND:Primary Ewing\u27s sarcoma originating in the pericranium is an extremely rare disease entity.CASE DESCRIPTION:A 9-year-old female patient was admitted to our department due to a left temporal subcutaneous mass. The mass was localized under the left temporal muscle and attached to the surface of the temporal bone. Head computed tomography revealed a mass with bony spicule formation on the temporal bone, however, it did not show bone destruction or intracranial invasion. F-18 fluorodeoxyglucose positron emission tomography showed no lesions other than the mass on the temporal bone. Magnetic resonance imaging showed that the mass was located between the temporal bone and the pericranium. The mass was completely resected with the underlying temporal bone and the overlying deep layer of temporal muscle, and was diagnosed as primary Ewing\u27s sarcoma. Because the tumor was located in the subpericranium, we created a new classification, "pericranial Ewing\u27s sarcoma," and diagnosed the present tumor as pericranial Ewing\u27s sarcoma.CONCLUSION:We herein present an extremely rare case of primary pericranial Ewing\u27s sarcoma that developed on the temporal bone

Diagnosis of demyelinating brain lesion simulating brain tumors on fast imaging employing steady-state acquisition magnetic resonance imaging.

Background:A single inflammatory demyelinating brain lesion sometimes mimics a brain tumor on conventional magnetic resonance imaging (MRI), and thus poses a considerable diagnostic challenge. We assessed the usefulness of a new MRI technique, fast imaging employing steady-state acquisition (FIESTA), for the diagnosis of inflammatory demyelinating disease (IDD).Methods:Three patients (2 males, 1 female) with a histopathologically proven inflammatory demyelinating brain lesion which mimicked a brain tumor on MRI were evaluated with a post-contrast three-dimensional FIESTA sequence before biopsy and treatment. Those images were compared with the images of intra-axial brain tumors (n = 147).Results:Preoperative FIESTA showed an iso- or slightly hyperintense distinct intralesional structure that appeared reticulate or broad-line in patients with IDD. These structures traversed a hyperintense demyelinating lesion in the deep grey matter (DGM) and were connected to the surrounding extralesional area, which appeared to be dense fibers between DGM. Such distinct intralesional structures were not observed in most brain tumors.Conclusion:Reticulate or broad-line-like intralesional structures on FIESTA may, therefore, be suggestive of IDD rather than indicate a brain tumor

Planetary period magnetic field oscillations in Saturn's magnetosphere: Postequinox abrupt nonmonotonic transitions to northern system dominance

[1] We examine the “planetary period” magnetic field oscillations observed in the “core” region of Saturn's magnetosphere (dipole L ≤ 12), on 56 near‐equatorial Cassini periapsis passes that took place between vernal equinox in August 2009 and November 2012. Previous studies have shown that these consist of the sum of two oscillations related to the northern and southern polar regions having differing amplitudes and periods that had reached near‐equal amplitudes and near‐converged periods ~10.68 h in the interval to ~1 year after equinox. The present analysis shows that an interval of strongly differing behavior then began ~1.5 years after equinox, in which abrupt changes in properties took place at ~6‐ to 8‐month intervals, with three clear transitions occurring in February 2011, August 2011, and April 2012, respectively. These are characterized by large simultaneous changes in the amplitudes of the two systems, together with small changes in period about otherwise near‐constant values of ~10.63 h for the northern system and ~10.69 h for the southern (thus, not reversed postequinox) and on occasion jumps in phase. The first transition produced a resumption of strong southern system dominance unexpected under northern spring conditions, while the second introduced comparably strong northern system dominance for the first time in these data. The third resulted in suppression of all core oscillations followed by re‐emergence of both systems on a time scale of ~85 days, with the northern system remaining dominant but not as strongly as before. This behavior poses interesting questions for presently proposed theoretical scenarios

Xanthomatous meningioma: a case report with review of the literature.

Xanthomatous meningioma is an extremely rare variant of meningioma that is characterized histopathologically by the presence of tumor cells with lipid-filled vacuolated cytoplasm. In this report, we describe the fifth documented case of xanthomatous meningioma and review its clinicopathological features. A 76-year-old Japanese male presented with dizziness. Magnetic resonance imaging demonstrated a well-circumscribed tumor in the left parasagittal to frontal region with attachment of the dura mater. Histopathological examination of the resected specimen revealed proliferation of polygonal to spindle cells with eosinophilic cytoplasm and bland round to oval nuclei. Whorl formation and psammomas were scattered, and mitotic figures were rarely seen. A peculiar finding was the presence of extensive xanthomatous change continuing to the above-mentioned typical meningothelial meningioma. These tumor cells had clear vacuolated cytoplasm and bland round to oval nuclei. Immunohistochemically, xanthomatous cells were positive for epithelial membrane antigen. Accordingly, an ultimate diagnosis of xanthomatous meningioma was made. Our clinicopathological analysis revealed that xanthomatous meningioma affects children to young persons or the elderly, and four of five cases were located in the supratentorial region. Although the detailed mechanism underlying the xanthomatous change has not been clarified, this change is thought to result from a metabolic abnormality of the neoplastic meningothelial cells. Further, xanthomatous change has also been reported in atypical and anaplastic meningiomas. Therefore, it is important to recognize that xanthomatous change can occur in meningiomas, and to avoid misidentifying these cells as macrophages

精神疾患におけるマイクログリア由来ニューレグリン発現

Several studies have revealed that neuregulins (NRGs) are involved in brain function and psychiatric disorders. While NRGs have been regarded as neuron- or astrocyte-derived molecules, our research has revealed that microglia also express NRGs, levels of which are markedly increased in activated microglia. Previous studies have indicated that microglia are activated in the brains of individuals with autism spectrum disorder (ASD). Therefore, we investigated microglial NRG mRNA expression in multiple lines of mice considered models of ASD. Intriguingly, microglial NRG expression significantly increased in BTBR and socially-isolated mice, while maternal immune activation (MIA) mice exhibited identical NRG expression to controls. Furthermore, we observed a positive correlation between NRG expression in microglia and peripheral blood mononuclear cells (PBMCs) in mice, suggesting that NRG expression in human PBMCs may mirror microglia-derived NRG expression in the human brain. To translate these findings for application in clinical psychiatry, we measured levels of NRG1 splice-variant expression in clinically available PBMCs of patients with ASD. Levels of NRG1 type III expression in PBMCs were positively correlated with impairments in social interaction in children with ASD (as assessed using the Autistic Diagnostic Interview-Revised test: ADI-R). These findings suggest that immune cell-derived NRGs may be implicated in the pathobiology of psychiatric disorders such as ASD.博士（医学）・乙第1404号・平成29年6月28日Copyright © 2017 Elsevier Inc. All rights reserved

Urine volume to hydration volume ratio is associated with pharmacokinetics of high-dose methotrexate in patients with primary central nervous system lymphoma.

High-dose methotrexate (HD-MTX)-based chemotherapy is the first-line treatment for primary central nervous system lymphoma (PCNSL), but is associated with severe adverse effects, including myelosuppression and renal impairment. MTX is primarily excreted by the kidneys. Renal function calculated using serum creatinine (Scr) derived from muscle may be overestimated in elderly PCNSL patients. Therefore, we aimed to construct a population pharmacokinetic model in PCNSL patients and explore the factors associated with MTX clearance. Sixteen PCNSL patients (median age, 66 years) treated with HD-MTX were included, and serum MTX concentrations were measured at 193 points in 49 courses. A population pharmacokinetic analysis was performed using NONMEM. A Monte Carlo simulation was conducted, in which serum MTX concentrations were stratified into three groups of creatine clearance (Ccr) (50, 75, and 100 ml/min) with three groups of the urine volume to hydration volume (UV/HV) ratio (2). The final model was constructed as follows: MTX clearance = 4.90·(Ccr/94.5)0.456·(UV/HV)0.458. In the Monte Carlo simulation, serum MTX concentrations were below the standard values (10, 1, and 0.1 µM at 24, 48, and 72 h, respectively, after the start of the MTX administration) in most patients with UV/HV >2, even with Ccr of 50 ml/min. Conversely, half of the patients with UV/HV <1 and Ccr of 50 ml/min failed to achieve the standard values. The present results demonstrated that the UV/HV ratio was useful for describing the pharmacokinetics of MTX in PCNSL patients

Room Temperature Magnesium Electrodeposition from Glyme-Coordinated Ammonium Amide Electrolytes

We prepared less volatile and halide-free electrolytes for room temperature non-dendritic magnesium (Mg) electrodeposition by mixing a Mg[2+]-amide-containing ionic liquid (IL) with equimolar glyme (Mg[2+]+IL : glyme = 1:1). Raman spectroscopy suggested that in the equimolar mixture most glyme molecules are coordinated to Mg[2+] cations and/or IL cations, which is also supported by a single crystal X-ray diffraction study. The glyme-coordinated IL electrolytes showed sizable redox currents (order of mA cm–2), while aging deterioration of electrochemical properties was observed for the triglyme mixture due to partial bath decomposition. The tetraglyme-coordinated IL electrolyte enabled flat electrodeposition of Mg with a metallic luster and showed with very high anodic stability (ca. +4 V vs. Mg) because of decrease in uncoordinated glymes, which can be used for high-voltage Mg ion batteries