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Amano N.,Keio University | Mukai T.,Asahikawa Kosei General Hospital | Ito Y.,Japanese Red Cross Hokkaido College of Nursing | Narumi S.,Keio University | And 4 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2014

Context: C-type natriuretic peptide-natriuretic peptide receptor B (NPR-B) signaling is critical for endochondral ossification, which is responsible for longitudinal growth in limbs and vertebrae. Biallelic NPR2 mutations cause acromesomelic dysplasia, type Maroteaux, which is bone dysplasia characterized by severe short stature and short limbs. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth. Objective: The goal of this study was to identify and characterize NPR2 mutations among Japanese patients with short stature. Subjects and Methods: We enrolled 101 unrelated Japanese patients with short stature. NPR2 and NPPC were sequenced, and the identified variants were characterized in vitro. Results: In two subjects,weidentified two novel heterozygous NPR2 mutations (R110C and Q417E) causing a loss of C-type natriuretic peptide-dependent cGMP generation capacities and having dominant-negative effects. R110C was defective in trafficking from the endoplasmic reticulum to the Golgi apparatus. In contrast, Q417E showed clear cell surface expression. Conclusions: We identified heterozygous NPR2 mutations in 2% of Japanese patients with short stature. Our in vitro findings indicate that NPR2 mutations have a dominant negative effect, and their dominant-negative mechanisms vary corresponding to the molecular pathogenesis of the mutations. Copyright © 2014 by the Endocrine Society. Source

Wakizaka K.,Asahikawa Kosei General Hospital
Kyobu geka. The Japanese journal of thoracic surgery | Year: 2012

Pleomorphic carcinoma is rare in the primary lung cancer with a poor prognosis. We reported a resected case of pleomorphic carcinoma of the lung with rapid progression. A 62-year-old male with a tumor shadow in the right lung which had not been noted 9 months before was referred to our hospital. The abnormal shadow was not noted 9 months ago. The tumor located in the right lower lobe and rapidly enlarged from 7.5 cm to 9.5 cm in a month. Right pneumonectomy was necessary, because of the intrapulmonary metastasis in the right upper lobe. Pathological findings showing spindle cells with massive necrosis, were consistent with a diagnosis of pleomorphic carcinoma. Only by 45 days after operation, local recurrence and metastases to the brain, right adrenal gland and small intestine were found, resulting in death at 67 days after operation. Source

Wajima T.,Kitasato University | Wajima T.,Tokyo University of Pharmacy and Life Science | Morozumi M.,Kitasato University | Chiba N.,Kitasato University | And 5 more authors.
International Journal of Antimicrobial Agents | Year: 2013

In this study, the relationship between emm type and antibiotic resistance in 283 invasive group A streptococcal strains collected during surveillance from 2010 to 2012 was analysed. Strains were characterised by emm typing, multilocus sequence typing and antimicrobial susceptibility. Resistance rates for macrolide antibiotics conferred by mef(A), erm(A) or erm(B) were high (54.4%). The most prevalent (40.3%) macrolide resistance mediated by mef(A) was present in 92.2% of emm1 strains. It was found that 53.3% of emm12 strains and 91.7% of emm28 strains had erm(A) or erm(B) genes. Intermediate resistance to fluoroquinolones caused by a mutation in parC was found in 14.1% of strains. Furthermore, three strains (1.1%) with high resistance caused by mutations in both parC and gyrA were detected. Fluoroquinolone resistance was present in various emm types. © 2013 Elsevier B.V. and the International Society of Chemotherapy. Source

Hayashi T.,Sapporo Medical University | Kawakami H.,Hokkaido University | Osanai M.,Center for Gastroenterology | Ishiwatari H.,Sapporo Medical University | And 7 more authors.
Clinical Gastroenterology and Hepatology | Year: 2015

Background & Aims: Endoscopic sphincterotomy (ES) is performed routinely before self-expandable metallic stents (SEMS) are placed in malignant distal biliary strictures to prevent postprocedural pancreatitis. However, it is not clear whether ES actually prevents pancreatitis or affects other adverse events (AEs). We conducted a noninferiority trial to examine the necessity of ES before SEMS placement. Methods: Two hundred patients with distal biliary strictures caused by unresectable pancreatic cancer were assigned randomly to groups that received ES or did not receive ES (non-ES) before SEMS placement, at 25 hospitals in Hokkaido, Japan, from August 2010 through November 2012. The primary outcome was early AEs (≤30 d) specifically related to the presence or absence of ES (pancreatitis, bleeding, or perforation). Secondary outcomes measured included the effect of ES omission on time to SEMS dysfunction and patient survival times. Results: The proportions of patients with early AEs were 9.2% in the non-ES group and 10.4% in the ES group (a difference of 1.2%, noninferior). The median times to SEMS dysfunction was longer than 594 days in the non-ES group and 541 days in the ES group (P= .88). The median overall survival times were 202 in the ES group vs 255 days in the non-ES group; P= .20). Conclusions: ES before SEMS does not affect the incidence of AEs, SEMS patency, or patient survival times. Our data provide no evidence for a benefit of ES to patients undergoing SEMS placement forabiliary stricture caused by pancreatic cancer. UMIN clinical trials registry number:000004044. © 2015 AGA Institute. Source

Kanaya K.,Asahikawa Kosei General Hospital
Hand surgery : an international journal devoted to hand and upper limb surgery and related research : journal of the Asia-Pacific Federation of Societies for Surgery of the Hand | Year: 2010

We present the first report of a patient with an isolated scaphoid dislocation with axial carpal dissociation sustained during volar flexion of the wrist. The scaphoid was dislocated to the radial side of the radial styloid process and was slightly shifted to the dorsal side. It was shown that the position of the wrist played an irrelevant role for occurring scaphoid dislocation. Source

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