Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis

The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al. reported the first patient with MPS VII, who underwent HSCT at 12 years of age. Here, we report the results of a 22-year follow-up of that patient post-HSCT, who harbored the p.Ala619Val mutation associated with an attenuated phenotype. The purpose of this study was to evaluate changes in physical symptoms, the activity of daily living (ADL), and the intellectual status in the 34-year-old female MPS VII patient post-HSCT, and to prove the long-term effects of HSCT in MPS VII. Twenty-two years after HSCT, the β-glucuronidase activity in leukocytes remained at normal levels, and urinary glycosaminoglycan excretion was reduced and kept within normal levels. At present, she is capable of sustaining simple conversation, and her intellectual level is equivalent to that of a 6-year-old. She can walk alone and climb upstairs by holding onto a handrail, although she feels mild pain in the hip joint. The cervical vertebrae are fused with the occipital bone, causing dizziness and light-headedness when the neck is bent back. Overall, her clinical condition has been stabilized and kept well for long-term post-HSCT, indicating that HSCT is a therapeutic option for MPS VII

Natural Computing and Beyond

This book contains the joint proceedings of the Winter School of Hakodate (WSH) 2011 held in Hakodate, Japan, March 15–16, 2011, and the 6th International Workshop on Natural Computing (6th IWNC) held in Tokyo, Japan, March 28–30, 2012, organized by the Special Interest Group of Natural Computing (SIG-NAC), the Japanese Society for Artificial Intelligence (JSAI). This volume compiles refereed contributions to various aspects of natural computing, ranging from computing with slime mold, artificial chemistry, eco-physics, and synthetic biology, to computational aesthetics

Banking in Japan: Will "Too Big To Fail" Prevail?

This paper reviews the evolution of the Japanese banking sector and the development of the banking crisis in Japan in the context of "too big to fail." It describes the deterioration of the Japanese financial sector caused by the bad loan problems and the failure of policymakers to get a grip on the underlying problems. Even at the start of the new century, Japanese policymakers still continue to struggle to find the right policy response to tackle the banking problems and how to avoid moral hazard behavior intertwined with "too big to fail" concerns. The increasing concentration in the Japanese banking industry, which is now dominated by five huge financial conglomerates, should make it more difficult to definitely end "too big to fail" in Japanese prudential policy. In this respect, we believe that the "too big to fail" policy in Japan will prevail.Too big to fail, Banking crisis, Japan

A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome.

Germline mutations of the LKB1 gene are associated with Peutz-Jeghers syndrome (PJS), which is characterized by mucocutaneous pigmentation and gastrointestinal hamartoma with an increased risk of cancer development. In this study, we have employed polymerase chain reaction and DNA sequencing analysis to characterize the LKB1 gene in a 25-year-old Japanese PJS patient. Direct sequence analyses revealed a novel single base deletion at nucleotide 844 in exon 6 (844delC) in one LKB1 allele, resulting in a frame shift and in the introduction of a premature termination codon in this mutated allele.</p

Failure pressure of straight pipe with wall-thinning under

The failure pressure of pipe with wall-thinning was investigated by using three-dimensional elastic-plastic finite element analyses (FEA). With careful modeling of the pipe and flaw geometry in addition to a proper stress-strain relation of the material, FEA could estimate the precise burst pressure obtained by the tests. FEA was conducted by assuming three kinds of materials: line pipe steel, carbon steel, and stainless steel. The failure pressure obtained using line pipe steel was the lowest under the same flaw size condition, when the failure pressure was normalized by the value of unflawed pipe defined using the flow stress. On the other hand, when the failure pressure was normalized by the results of FEA obtained for unflawed pipe under various flaw and pipe configurations, the failure pressures of carbon steel and line pipe steel were almost the same and lower than that of stainless steel. This suggests that the existing assessment criteria developed for line pipe steel are applicable to making a conservative assessment of carbon steel and stainless steel

A c-KIT codon 816 mutation, D816H, in the testicular germ cell tumor: case report of a Japanese patient with bilateral testicular seminomas.

Mutations of the c-KIT gene have been reported not only in gastrointestinal stromal tumors and mast cell tumors, but also in testicular germ cell tumors (TGCTs). In the present study we employed polymerase chain reaction and DNA sequencing analysis to characterize the c-KIT gene in a 29-year-old Japanese patient with bilateral testicular seminomas. Direct sequence analyses revealed a single base substitution in exon 17 in one c-KIT allele, resulting in an amino acid substitution of D816H in this mutated allele. This mutation was found in the left, but not in the right, testicular seminoma. This is the first description of a c-KIT gene mutation in a Japanese patient with bilateral TGCT. The mutational analysis of the c-KIT gene seems to provide crucial information for managing TGCT patients not only in Europe but also in Japan.</p

A novel multicolor immunofluorescence method using heat treatment.

We describe a novel method for immunofluorescent detection of multiple antigens in a single paraffin-embedded tissue section. We hypothesized that if fluorescent dyes are resistant to heat treatment, then thermal inactivation of immunoglobulins during antigen detection procedures might make it possible to use multicolor immunofluorescence detection even if the primary antibodies are from the same species. We found that several fluorescent dyes, including fluorescein isothiocyanate (FITC), Cy3 and Cy5, were resistant to heating at 90 degrees Celsius for 15 min, whereas the antigenicities of the primary antibodies were lost completely. This novel method, which uses heat treatment between staining steps, has great advantages for multicolor immunofluorescence because unlabeled primary antibodies from the same species can be used. Therefore, by using this method not only 3 unlabeled mouse monoclonal antibodies but also 3 unlabeled rabbit antisera can be used as primary antibodies for multicolor immunofluorescence.</p

Efficacy and duration of analgesia from a sustained-release lidocaine sheet in humans

学位記番号：医博甲151