Kawano O.,Obihiro Kyokai Hospital |
Nakamura A.,Hokkaido University |
Morikawa S.,Hokkaido University |
Uetake K.,Obihiro Kousei Hospital |
And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2015
Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. SEDC is usually caused by substitution of glycine residue with another amino acid in the triple helical domains of alpha 1 chains, which consist of type II collagen (COL2A1). Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele. One mutation, p.G504S, was previously described in patients with SEDC, whereas the other, p.G612A, was a novel mutation; both were located in the triple helical domain. Neither mutation was identified in the parents and appeared to be de novo. To the best of our knowledge, this is the first study involving a patient with a type II collagenopathy with two COL2A1 mutations on the same allele. The case was characterized by a more severe phenotype compared with previously reported cases involving a single p.G504S mutation, which may have been the result of the double mutation. © 2015 Wiley Periodicals, Inc.
Uzuki Y.,Obihiro Kousei Hospital |
Uctakc K.,Obihiro Kousei Hospital |
Toshihiro T.,Hokkaido University
Acta Endocrinologica | Year: 2012
Introduction: Prader-Willi syndrome (PWS) is one of the most common known genetic causes of morbidly obese, resulting in diabetes mellitus (DM) and the management of DM in PWS is difficult. Recently, glucagon-like peptide I (GLP-I) receptor agonists have been introduced for the treatment of type 2 DM. Here, we report the use of liraglutidc, a GLP-I receptor agonist, in a patient with DM in PWS. Case report: A Japanese male patient was diagnosed as having PWS at the age of 1 year. He was mentally rctarted and developed morbid obesity. When he was 18 years old, his weight was 79 kg and height was 152 cm (BMI 34.1 kg/m 2). His HbAlc level was 6.2 % and thus DM was diagnosed. Despite several medications, the control of DM worsened and thus at the age of 22 years his body weight and HbAlc further increased (83 kg and 10.8%, respectively). At this time, liraglutide was initiated. His weight and BMI did not change, however his HbAlc level decreased to 7.4 % after one year treatment. He did not have any side effects of liraglutidc. This case indicates that GLP-1 receptor agonists may be useful for the treatment of DM with PWS.
Harada T.,Hokkaido Social Insurance Hospital |
Oizumi S.,Hokkaido University |
Ito K.,Obihiro Kousei Hospital |
Takamura K.,Obihiro Kousei Hospital |
And 13 more authors.
Oncologist | Year: 2013
Amrubicin, a third-generation synthetic anthracycline agent, has favorable clinical activity and acceptable toxicity for the treatment of patients with non-small cell lung cancer (NSCLC) and small cell lung cancer. We conducted this study to evaluate the efficacy and safety of amrubicin for advanced NSCLC patients as a third- or fourth-line therapy. Eligible patients had recurrent or refractory advanced NSCLC after second- or third-line therapy. Patients received amrubicin, 35 mg/m2 i.v. on days 1-3 every 3 weeks. The primary endpoint was the disease control rate (DCR). Secondary endpointswerethe overall survival (OS) time, progression-free survival (PFS) time, response rate, and toxicity profile. Of the 41 patients enrolled, 26 received amrubicin as a third-line and 15 received it as a fourth-line therapy. The median number of treatment cycles was two (range, 1-9). Objective responses were complete response (n = 0), partial response (n = 4), stable disease (n = 21), progressive disease (n=15), and not evaluable (n1), resulting in a DCR of 61.0% (95% confidence interval, 46.0%-75.9%). The overall response rate was 9.8% (95% confidence interval, 0.6%-18.8%). The median PFS interval was 3.0 months, median OS time was 12.6 months, and 1-year survival rate was 53.7%. Grade 3 or 4 hematological toxicities were neutropenia (68%), anemia (12%), thrombocytopenia (12%), and febrile neutropenia (17%). Nonhematological toxicities were mild and reversible. No treatment-related deaths were observed. Amrubicin showed significant clinical activity with manageable toxicities as a third- or fourth-line therapy for patients with advanced NSCLC. This study provides relevant data for routine practice and future prospective trials evaluating third- or fourth-line treatment strategies for patients with advanced NSCLC. © AlphaMed Press 2013.
Noriko O.,Sapporo Medical University |
Keisuke K.,Obihiro Kousei Hospital |
Iwao Y.,Obihiro Kousei Hospital |
Keiji Y.,Sapporo Medical University |
Tetsuo H.,Sapporo Medical University
Journal of Pediatric Surgery Case Reports | Year: 2013
We report the first case of a benign extrapleural solitary fibrous tumor (SFT) that occurred in the left side of the neck of a 2-year-old boy. Complete surgical resection was performed for this tumor. Immuno-histochemistry was useful to diagnose the benign solitary fibrous tumor. © 2013 Elsevier Inc.
Kikuchi H.,Obihiro Kousei Hospital |
Kikuchi K.,Obihiro Kousei Hospital
Journal of Japanese Society of Gastroenterology | Year: 2012
A 57-year-old man presented with jaundice. Abdominal computed tomography showed a 10-cm left hepatic lobe heterogeneous solid mass with low attenuated areas in the mass, multiple liver metastases and lung metastasis. Serology for hepatitis B and C were negative. Serum alpha-fetoprotein, CEA and CA19-9 were normal. The patient died a few weeks later of progressive liver failure and an autopsy was performed. Histologically, the tumor consisted of sarcomatoid mononuclear cells and osteoclast-like giant cells. The liver tissue surrounding the tumor showed no cirrhotic pattern. The osteoclast-like giant cells were uniformly and strongly immunoreactive with CD68. The mononuclear cells demonstrated expression of vimentin but were negative for CAM5.2. The MIB-1 index was 20% for the mononuclear cells. In conclusion, the histopathological diagnosis revealed an osteoclast-like giant cell tumor of the liver.