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2. Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future

Author

Taylor, Madeleine, Khan, Shaukat, Stapleton, Molly, Wang, Jianmin, Chen, Jing, Wynn, Robert, Yabe, Hiromasa, Chinen, Yasutsugu, Boelens, Jaap Jan, Mason, Robert W., Kubaski, Francyne, Horovitz, Dafne D.G., Barth, Anneliese L., Serafini, Marta, Bernardo, Maria Ester, Kobayashi, Hironori, Orii, Kenji E., Suzuki, Yasuyuki, Orii, Tadao, and Tomatsu, Shunji

Published
2019
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6. Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB

Author

Shimada, Tsutomu, Tomatsu, Shunji, Mason, Robert W., Yasuda, Eriko, Mackenzie, William G., Hossain, Jobayer, Shibata, Yuniko, Montaño, Adriana M., Kubaski, Francyne, Giugliani, Roberto, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji E., Fukao, Toshiyuki, Orii, Tadao, Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
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7. Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

Author

Shimada, Tsutomu, Tomatsu, Shunji, Yasuda, Eriko, Mason, Robert W., Mackenzie, William G., Shibata, Yuniko, Kubaski, Francyne, Giugliani, Roberto, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2014
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12. Critical review of current MPS guidelines and management

Author

Mary C. Theroux, Seiji Yamaguchi, Yasuyuki Suzuki, Hironori Kobayashi, Orii Tadao, Hiroyuki Ida, Kazuki Sawamoto, Hiroo Hoshina, Molly Stapleton, Toshiyuki Fukao, Robert W. Mason, William G. Mackenzie, Francyne Kubaski, and Shunji Tomatsu

Subjects
0301 basic medicine, medicine.medical_specialty, Palliative care, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Japan, Genetics, Humans, Medicine, Enzyme Replacement Therapy, Substrate reduction therapy, Adverse effect, Intensive care medicine, Molecular Biology, Glycosaminoglycans, Mucopolysaccharidosis II, Clinical Trials as Topic, Government, business.industry, Australia, Hematopoietic Stem Cell Transplantation, Conflict of interest, Disease Management, Genetic Therapy, Guideline, Enzyme replacement therapy, Mucopolysaccharidoses, Practice Guidelines as Topic, business, Brazil, 030217 neurology & neurosurgery
Abstract

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that impair degradation of glycosaminoglycans (GAG). The specific GAGs that accumulate depend on the type of MPS, leading to unique characteristic clinical features. Development of guidelines for treatment of MPS has traditionally been multifaceted and largely based on palliative care. In the last three decades, hematopoietic stem cell transplantation and enzyme replacement therapy have been developed based on experimental and clinical studies. Guidelines have been established with the accumulation of the clinical data from natural history of the disease and therapeutic consequences, mainly sponsored by pharmaceutical companies. In recent years, committees in three countries, Australia (2015), Japan (2017), and Brazil (2018) have adopted guidelines for the treatment of MPS II, sponsored and authorized by each government. As novel treatments for MPS including substrate reduction therapy, pharmacological chaperone therapy, and gene therapy become clinically available, it is increasingly necessary to establish the optimal guideline for each type of MPS, considering multiple factors including therapeutic efficacy, adverse effects, age, disease stage, prognosis, feasibility and availability of access to treatment, and cost- performance. In this article, we discuss the historical guidelines for specific MPS types and the most recently adopted guidelines for MPS II and propose the development of future guidelines without conflict of interest and bias leading to mutual benefits to all parties including patients and families, professionals, tax payers, and governments.

Published
2019

13. Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB

Author

Shimada, Tsutomu, primary, Tomatsu, Shunji, additional, Mason, Robert W., additional, Yasuda, Eriko, additional, Mackenzie, William G., additional, Hossain, Jobayer, additional, Shibata, Yuniko, additional, Montaño, Adriana M., additional, Kubaski, Francyne, additional, Giugliani, Roberto, additional, Yamaguchi, Seiji, additional, Suzuki, Yasuyuki, additional, Orii, Kenji E., additional, Fukao, Toshiyuki, additional, and Orii, Tadao, additional

Published
2014
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16. Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis

Author

Orii, Kenji, Suzuki, Yasuyuki, Tomatsu, Shunji, Orii, Tadao, Fukao, Toshiyuki, Orii, Kenji, Suzuki, Yasuyuki, Tomatsu, Shunji, Orii, Tadao, and Fukao, Toshiyuki

Abstract

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.

Published
2020

17. Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation.

Author

Suzuki, Yasuyuki, Taylor, Madeleine, Orii, Kenji, Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji, Suzuki, Yasuyuki, Taylor, Madeleine, Orii, Kenji, Fukao, Toshiyuki, Orii, Tadao, and Tomatsu, Shunji

Abstract

The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact. This study aims to evaluate the long-term effectiveness of HSCT using the activity of daily living (ADL) scores in patients with MPS II. Sixty-nine severely affected MPS II patients (19 patients who received HSCT and 50 untreated patients) and 40 attenuated affected patients (five with HSCT and 35 untreated) were investigated by a simplified ADL questionnaire. The frequency of clinical findings and the scores of ADL (verbal, gross motor, and the level of care) were analyzed statistically. The mean age of onset of 19 severely affected patients who received HSCT was 1.40 years ± 1.06, which is not statistically different from that of 50 untreated patients (p = 0.11). Macroglossia, frequent airway infection, hepatosplenomegaly, joint contracture, and sleep apnea were less frequent in the HSCT-treated group of severe MPS II patients. The severe phenotype HSCT treated group reported a statistically significant higher score of verbal function and gross motor function between the ages of 10 and 15 years and a higher level of care score between 10 and 20 years. Patients with the attenuated phenotype showed high ADL scores, and all of five HSCT treated patients reported a lower frequency of frequent airway infection, coarse skin, umbilical/inguinal hernia, hepatosplenomegaly, heart valve disorders, and carpal tunnel. In conclusion, HSCT is effective, resulting in improvements in clinical features and ADL in patients with MPS II. HSCT should be re-reviewed as a therapeutic option for MPS II patients.

Published
2020

18. Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

Author

Stapleton Molly, Kubaski Francyne, Mason Robert W., Shintaku Haruo, Kobayashi, Hironori, Yamaguchi, Seiji, Taketani, Takeshi, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji, Stapleton Molly, Kubaski Francyne, Mason Robert W., Shintaku Haruo, Kobayashi, Hironori, Yamaguchi, Seiji, Taketani, Takeshi, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, and Tomatsu, Shunji

Published
2020

22. Impairment of Body Growth in Mucopolysaccharidoses

Author

Tomatsu, Shunji, primary, Montaño, Adriana M., additional, Oikawa, Hirotaka, additional, Giugliani, Roberto, additional, Harmatz, Paul, additional, Smith, Mary, additional, Suzuki, Yasuyuki, additional, and Orii, Tadao, additional

Published
2011
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23. Missense models [[Gus.sup.tm(E536A)Sly], [Gus.sup.tm(E536Q)Sly], and [Gus.sup.tm(L175F)Sly]] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis

Author

Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Grubb, Jeffrey H., Snella, Elizabeth M., Gutierrez, Monica A., Dieter, Tatiana, Sukegawa, Kazuko, Orii, Tadao, Kondo, Naomi, and Sly, William S.

Subjects
Mucopolysaccharidosis -- Research, Mucopolysaccharidosis -- Physiological aspects, Science and technology, National Academy of Sciences -- Research
Abstract

Human mucopolysaccharidosis VII (MPS VII, Sly syndrome) results from a deficiency of [beta]-glucuronidase (GUS) and has been associated with a wide range in severity of clinical manifestations. To study missense mutant models of murine MPS VII with phenotypes of varying severity, we used targeted mutagenesis to produce E536A and E536Q, corresponding to active-site nucleophile replacements E540A and E540Q in human GUS, and L175F, corresponding to the most common human mutation, L176F. The E536A mouse had no GUS activity in any tissue and displayed a severe phenotype like that of the originally described MPS VII mice carrying a deletion mutation ([gus.sup.mps/mps]). E536Q and L175F mice had low levels of residual activity and milder phenotypes. All three mutant MPS models showed progressive lysosomal storage in many tissues but had different rates of accumulation. The amount of urinary glycosaminoglycan excretion paralleled the clinical severity, with urinary glycosaminoglycans remarkably higher in E536A mice than in E536Q or L175F mice. Molecular analysis showed that the Gus mRNA levels were quantitatively similar in the three mutant mouse strains and normal mice. These mouse models, which mimic different clinical phenotypes of human MPS VII, should be useful in studying pathogenesis and also provide useful models for studying enzyme replacement therapy and targeted correction of missense mutations. knock-in mice | point mutation | Cre-loxP

Published
2002

47. Biomarkers in patients with mucopolysaccharidosis type II and IV.

Author

Fujitsuka, Honoka, Sawamoto, Kazuki, Peracha, Hira, Mason, Robert W., Mackenzie, William, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji, Fujitsuka, Honoka, Sawamoto, Kazuki, Peracha, Hira, Mason, Robert W., Mackenzie, William, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, and Tomatsu, Shunji

Abstract

Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation with GAGs, blood samples were collected from 46 MPS II patients, 34 MPS IVA patients, and 5 MPS IVB patients. We evaluated the levels of 8 pro-inflammatory factors (EGF, IL-1β, IL-6, MIP-1α, TNF-α, MMP-1, MMP-2, and MMP-9), collagen type II, and DS, HS (HS0S, HSNS), and KS (mono-sulfated, di-sulfated) in blood. Eight biomarkers measured were significantly elevated in untreated MPS II patients, compared with those in normal controls: EGF, IL-1β, IL-6, HS0S, HSNS, DS, mono-sulfated KS, and di-sulfated KS. The same eight biomarkers remained elevated in ERT-treated patients. However, only three biomarkers remained elevated in post-HSCT MPS II patients: EGF, mono-sulfated KS, and di-sulfated KS. Post-HSCT patients with MPS II showed that IL-1β and IL-6 were normalized as HS and DS levels decreased. Eight biomarkers were significantly elevated in untreated MPS IVA patients: EGF, IL-1β, IL-6, MIP-1α, MMP-9, HSNS, mono-sulfated KS, and di-sulfated KS, and four biomarkers were elevated in MPS IVA patients under ERT: IL-6, TNF-α, mono-sulfated KS, and di-sulfated KS. There was no reduction of KS in the ERT-treated MPS IVA patient, compared with untreated patients. Two biomarkers were significantly elevated in untreated MPS IVB patients: IL-6 and TNF-α. Reversely, collagen type II level was significantly decreased in untreated and ERT-treated MPS II patients and untreated MPS IVA patients. In conclusion, selected pro-inflammatory factors can be potential biomarkers in patients with MPS II and IV as well as GAGs levels.

Published
2019

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