PubMed | Tokyo Women's Medical University, Kanagawa Childrens Medical Center, Jikei University School of Medicine, Ochanomizu University and 2 more.
Type: | Journal: Molecular genetics and metabolism | Year: 2017
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure. The patient has two sisters with no significant medical illness. However, her nephew has acroparesthesia, anhidrosis, and school phobia, and her niece shows mild phenotypes. The patients enzyme analysis showed very low -galactosidase A (-gal A) activity in dried blood spot (DBS), lymphocytes, and skin fibroblasts with massive excretion of Gb3 and Gb2 in urine and lyso-Gb3 in DBS and plasma. Electron microscopic examination showed a large accumulation of sphingolipids in vascular endothelial cells and keratinocytes. Chromosomal analysis and comparative genomic hybridization microarray showed 10q26 terminal deletion. Molecular data showed a novel heterozygous stop codon mutation in exon 1 of the GLA gene in her sisters and niece, and a hemizygous state in her nephew. When we checked the methylation status, we found her non-mutated allele in the GLA gene was methylated. However, the non-mutated alleles of her sisters were non-methylated, and those of her niece were partially methylated. The chromosomal and methylation study may speculate the severity of her clinical phenotypes.
PubMed | Oita University, Health Science University, Juntendo University, Shin yurigaoka General Hospital and 11 more.
Type: | Journal: Hepatology research : the official journal of the Japan Society of Hepatology | Year: 2017
Idiopathic portal hypertension (IPH), causing aberrant portal hemodynamics, is a disease with an as yet unidentified cause and no treatment has been established so far. The Japanese research group on IPH in Japan was set up in 1975 by the Ministry of Health, Labour and Welfare, furthermore extra-hepatic portal obstruction (EHO) and Budd-Chiari syndrome (BCS) have been added to the research subjects and further work has continued. The aims of the research group are to accurately evaluate the current status of the three diseases in Japan, elucidate the disease aetiology and pathogenesis, and develop new treatments. Due to the long-term efforts of the Japanese research group, aberrant portal hemodynamics has been investigated to date in a variety of aspects, from epidemiological and pathological studies to molecular biology analysis. As a result, it has been shown that there are abnormal genes in the liver, specific for IPH. In addition, pathological findings of BCS were internationally compared and the difference in findings between Japan and Western countries has been clarified. Furthermore, it was found that complication rates of hepatocellular carcinoma (HCC) in BCS were higher in Japan. Based on the research, Diagnosis and treatment of aberrant portal hemodynamics (2001), including diagnostic criteria for aberrant portal hemodynamics, was published in 2001. In 2013, it was revised to Diagnosis and treatment guidelines for aberrant portal hemodynamics (2013) after the incorporation of diagnosis and treatment in accordance with its current status. This article is protected by copyright. All rights reserved.
PubMed | Showa University, Teikyo University, Kanagawa Cancer Center Research Institute and Shin Yurigaoka General Hospital
Type: Journal Article | Journal: International journal of health care quality assurance | Year: 2016
Purpose - The sustainability of the Japanese healthcare system is in question because the government has had a huge fiscal debt. Despite an enormous effort to cut the deficit, our healthcare expenditure is increasing every year because of the rapidly aging population. One of the solutions for this problem is to improve the productivity of healthcare. The purpose of this paper is to determine the factors that change surgeons productivity in one year. Design/methodology/approach - The authors collected data of all surgical procedures performed at Teikyo University Hospital from April 1 through September 30 in 2014 and 2015, and computed the surgeons Malmquist index (MI), efficiency change (EC) and technical change (TC) using non-radial and non-oriented Malmquist model under the constant returns-to-scale assumptions. The authors then divided the surgeons into two groups; one whose productivity progressed and the other whose productivity regressed. These two groups were compared to identify factors that may influence their MI. Findings - The only significant difference between the two groups was ECs (p < 0.0001). The other factors, such as TC, experience, surgical volume, emergency cases, surgical specialty, academic ranks, medical schools and gender, were not significantly different between the two groups. Originality/value - EC is a major determinant of surgeons productivity change. The best way to improve surgeons productivity may be to enhance their efficiency regardless of their surgical volume and personal backgrounds.
A randomised, phase III trial of once-daily fluticasone furoate/vilanterol 100/25 μg versus once-daily vilanterol 25 μg to evaluate the contribution on lung function of fluticasone furoate in the combination in patients with COPD
PubMed | Midwest Chest Consultants, Glaxosmithkline and Shin Yurigaoka General Hospital
Type: | Journal: Respiratory medicine | Year: 2017
The contribution of fluticasone furoate (FF) on lung function in the FF/vilanterol (VI) 100/25g combination has been demonstrated numerically, but not statistically.This multicentre, randomised, double-blind, controlled trial (GlaxoSmithKline study number 200820; clinicaltrials.gov NCT02105974) enrolled 40-year-old patients with chronic obstructive pulmonary disease (COPD), a 10-pack-year smoking history, a post-bronchodilator forced expiratory volume in 1s (FEV1620 patients were randomised and received at least one dose of FF/VI 100/25g (n=806) or VI 25g (n=814). At day 84, the FF/VI 100/25g group showed an adjusted mean treatment difference of 34mL over VI 25g in change from baseline trough FEVThe contribution of FF in the FF/VI 100/25g combination on lung function in COPD was statistically significant.GlaxoSmithKline.
Harada Y.,Shin yurigaoka General Hospital |
Miyazaki S.,Shin yurigaoka General Hospital
Internal Medicine | Year: 2016
Adrenocortical carcinoma is a rare malignancy with a poor prognosis. The effective treatment for advanced cancer remains unknown. A 61-year-old woman underwent CyberKnife treatment on a large adrenocortical carcinoma and tumor emboli in both pulmonary arteries. Follow-up positron emission tomography scanning with fluorodeoxyglucose (FDG) revealed that the FDG uptake was greatly decreased in all the tumors, and the hormone levels were also decreased. CyberKnife is a safe and effective treatment option for the nonoperative large advanced adrenocortical carcinoma. © 2016 The Japanese Society of Internal Medicine.
Mizuno J.,Shin yurigaoka General Hospital
Japanese Journal of Neurosurgery | Year: 2015
Surgical approaches to the degenerative diseases such as cervical spondylosis or ossification of the posterior longitudinal ligament of the cervical spine include anterior arthrodesis and posterior decompression with or without fusion. Cervical laminoplasty was first described by Hattori, et al in 1973, and was getting the popularity as a typical posterior approach. This technique can yield a reasonable outcome as good as that of laminectomy with the advantage of avoiding total removal of spino-laminar complex. In this technique, a spacer is generally used to maintain the expanded spinal canal. Although apacerum has been most widely used as a spacer, complications derived from this material were reported. A novel titanium spacer called “Laminoplasty Basket” was lately introduced to compensate for the deficits of apacerum. In this paper, we describe surgical technique of less-invasive cervical laminoplasty using “Laminoplasty Basket” under an operating microscope. © 2015, Japanese Congress of Neurological Surgeons. All rights reserved.
Miyazaki S.,Shin Yurigaoka General Hospital
Japanese Journal of Clinical Radiology | Year: 2015
Local tumor persistence in the pelvis is the major cause of death in patients with recurrent pelvic cancer. The aim of this study is to analyze the efficacy of Cyberknife stereotactic body radiotherapy (SBRT) in patients with recurrent or metastatic pelvic cancer. Thirty-one patients treated with SBRT were analyzed retrospectively. Median follow-up was 11 months. One and 2 year OS and PFS was 84.3%, 78.7%, and 61.8%, 52.5% respectively. Cyberknife SBRT for pelvic recurrent or metastatic tumors was found to be promising with respect to OS and PFS. Further studies are needed to confirm these preliminary results.
PubMed | Tokyo Medical University and Shin Yurigaoka General Hospital
Type: Journal Article | Journal: Surgical endoscopy | Year: 2016
To assess the impact of preoperatively estimated prostate volume (PV) using transrectal ultrasonography (TRUS) on surgical and oncological outcomes in robot-assisted radical prostatectomy (RARP).We analyzed the experience of a single surgeon at our hospital who performed 436 RARPs without neoadjuvant hormone therapy between August 2006 and December 2013. Patients were divided into three groups according to their preoperative PV calculated using TRUS (PV20cm(3): group 1, n=61; 20
PubMed | Kitasato University and Shin Yurigaoka General Hospital
Type: | Journal: Hepatology research : the official journal of the Japan Society of Hepatology | Year: 2016
To examine whether superparamagnetic iron oxide (SPIO)-enhanced magnetic resonance imaging (MRI) can be used to assess the malignant potential of hepatic hypovascular nodules showing hypointensity during the hepatobiliary phase (HBP) on gadoxetic acid (Gd-EOB-DTPA)-enhanced MRI.The study included 42 patients with chronic liver disease who had small hypovascular nodules (5-15mm) showing hypointensity during the HBP on Gd-EOB-DTPA-enhanced MRI. SPIO-enhanced T2-weighted MRI analyzed whether the signal intensity of each nodule was high. Nodules were prospectively followed-up until hypervascularization by periodic Gd-EOB-DTPA-enhanced MRI. Initial MRI findings and clinical variables were used to analyze predictive factors for hypervascularization.We analyzed 77 nodules, of which 19 (25%) showed hypervascularization during the observation period. The cumulative rates for hypervascularization were 11% and 22% at 1 and 2years, respectively. Hyperintensity was observed in 12 nodules (16%) on SPIO-enhanced T2-weighted MRI; among these, 7 (58%) showed hypervascularization, whereas 12 (18%) of the remaining 65 nodules without hyperintensity showed hypervascularization (P=0.007). A Cox model revealed that independent predictors of hypervascularization included hyperintense nodules on SPIO-enhanced MRI (P<0.001). The cumulative rates for hypervascularization in hyperintense nodules on SPIO-enhanced MRI were 52% at 1year, whereas these rates were 3% for non-hyperintense nodules.SPIO-enhanced MRI is useful for predicting the malignant potential of vascular transformation of hypovascular nodules with hypointensity observed in the HBP on Gd-EOB-DTPA-enhanced MRI.
PubMed | Shin yurigaoka General Hospital
Type: | Journal: Clinical neuroradiology | Year: 2016
Hyperperfusion syndrome (HPS) after carotid artery stenting (CAS) causes serious symptoms; therefore, early evaluation after CAS is considered to be important. Measurement of cerebral blood volume using Carm computed tomography (C-arm CBV) has recently become possible. Here, the usefulness of Carm CBV for the evaluation of hyperperfusion was investigated.C-arm CBV was measured before and immediately after CAS in 30patients. The regions of interest (ROI) were set in the bilateral middle cerebral artery perfused regions, and the affected/healthy side ratio of measured Carm CBV (CBV ratios) was determined to evaluate cerebral perfusion. For comparing values before and after CAS, the CBV ratio increase rate (postoperative CBV ratios/preoperative CBV ratios) was also determined.C-arm CBV was successfully measured in 30patients. Intracerebral hemorrhage (ICH) was detected in 3patients, and no other patient had hyperperfusion syndrome. In the patients who developed ICH, postoperative Carm CBV on the affected side was high, and a marked increase was confirmed in the postoperative CBV ratios. Postoperative CBV ratios were 1.03 0.40 and 1.45 0.68 in the non-ICH and ICH groups, and CBV ratio increase rates were 2.7 24.0% and 28.5 26.7% in the non-ICH and ICH groups, respectively; these differences were statistically significant (P< 0.01).C-arm CT allows CBV measurements immediately after CAS without requiring transport of the patient out of the angiography room, and it may enable the evaluation of hyperperfusion before and after CAS.