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Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, Tocan V, Ebihara G, Matsuoka W, Tetsuhara K, Sonoda M, Chong PF, Mushimoto Y, Kojima-Ishii K, Ishimura M, Koga Y, Fukuta A, Tsuchihashi NA, Kikuchi Y, Karashima T, Sawada T, Hotta T, Yoshimitsu M, Terazono H, Tajiri T, Nakagawa T, Sakai Y, Nakamura K, Ohga S. Higashi K, et al. Among authors: ishimura m. Mol Genet Genomic Med. 2024 Apr;12(4):e2427. doi: 10.1002/mgg3.2427. Mol Genet Genomic Med. 2024. PMID: 38553911 Free PMC article. Review.
However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11 months of age and had the pathogenic variants of p …
However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report …
Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, Shiraki M, Ohnishi H, Yasumura J, Kawabe T, Miyamae T, Matsubara T, Arakawa N, Ishige T, Takizawa T, Shimbo A, Shimizu M, Kimura N, Maeda Y, Maruyama Y, Shigemura T, Furuta J, Sato S, Tanaka H, Izumikawa M, Yamamura M, Hasegawa T, Kaneko H, Nakagishi Y, Nakano N, Iida Y, Nakamura T, Wakiguchi H, Hoshina T, Kawai T, Murakami K, Akizuki S, Morinobu A, Ohmura K, Eguchi K, Sonoda M, Ishimura M, Furuno K, Kashiwado M, Mori M, Kawahata K, Hayama K, Shimoyama K, Sasaki N, Ito T, Umebayashi H, Omori T, Nakamichi S, Dohmoto T, Hasegawa Y, Kawashima H, Watanabe S, Taguchi Y, Nakaseko H, Iwata N, Kohno H, Ando T, Ito Y, Kataoka Y, Saeki T, Kaneko U, Murase A, Hattori S, Nozawa T, Nishimura K, Nakano R, Watanabe M, Yashiro M, Nakamura T, Komai T, Kato K, Honda Y, Hiejima E, Yonezawa A, Bessho K, Okada S, Ohara O, Takita J, Yasumi T, Nishikomori R; Japan CAPS Working Group. Miyamoto T, et al. Among authors: ishimura m. Arthritis Rheumatol. 2024 Jan 25. doi: 10.1002/art.42808. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 38268504
[Genetic predisposition to early-onset thrombophilia: a study on challenges in personalized medicine for mothers, infants, and children].
Ohga S, Egami N, Hotta T, Uchiumi T, Ochiai M, Ishimura M. Ohga S, et al. Among authors: ishimura m. Rinsho Ketsueki. 2023;64(9):1131-1136. doi: 10.11406/rinketsu.64.1131. Rinsho Ketsueki. 2023. PMID: 37899192 Japanese.
The risk of thrombosis in childhood varies according to patient age, and the contribution of genetic predisposition also differs. The term early-onset thrombophilia, which occurs until the age of 20 years in patients with genetic diagnosis, was defined. ...
The risk of thrombosis in childhood varies according to patient age, and the contribution of genetic predisposition also differs. The ter …
Critical diseases in neonates after discharge home from birth hospital: A retrospective study from a tertiary hospital in Japan.
Fujiyoshi J, Inoue H, Sawano T, Mushimoto Y, Motomura Y, Nishiyama K, Kaku N, Nagata H, Yamamura K, Ishimura M, Koga Y, Ochiai M, Sakai Y, Tajiri T, Ohga S. Fujiyoshi J, et al. Among authors: ishimura m. Early Hum Dev. 2023 Nov;186:105869. doi: 10.1016/j.earlhumdev.2023.105869. Epub 2023 Sep 26. Early Hum Dev. 2023. PMID: 37774632
INTRODUCTION: To establish actionable neonatal screening during the first month of life, we investigated critical diseases in seemingly healthy newborns discharged from birth hospitals. METHODS: This retrospective study enrolled previously healthy full-term infants …
INTRODUCTION: To establish actionable neonatal screening during the first month of life, we investigated critical diseases in seemingly heal …
Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn.
Shirozu H, Ichiyama M, Ishimura M, Ayako K, Egami N, Dongchon K, Nakano T, Sagawa K, Ohga S. Shirozu H, et al. Among authors: ishimura m. AJP Rep. 2023 Jul 21;13(3):e44-e48. doi: 10.1055/a-2101-7738. eCollection 2023 Jul. AJP Rep. 2023. PMID: 37484829 Free PMC article.
We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmo …
We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infa …
A randomised, double-blind, placebo-controlled phase III trial on the efficacy and safety of tocilizumab in patients with familial Mediterranean fever.
Koga T, Sato S, Hagimori N, Yamamoto H, Ishimura M, Yasumi T, Kirino Y, Ikeda K, Yachie A, Migita K, Kishida D, Atsumi T, Kawakami A. Koga T, et al. Among authors: ishimura m. Clin Exp Rheumatol. 2022 Sep;40(8):1535-1542. doi: 10.55563/clinexprheumatol/fgx9vv. Epub 2022 Sep 14. Clin Exp Rheumatol. 2022. PMID: 36106542 Free article. Clinical Trial.
Fever attacks, accompanying symptoms, serum CRP and SAA values were controlled in most of the patients who received long-term TCZ. In these trials, the numbers and severity of AEs did not differ between groups. CONCLUSIONS: Although a primary endpoint was not met in the pr …
Fever attacks, accompanying symptoms, serum CRP and SAA values were controlled in most of the patients who received long-term TCZ. In …
[Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].
Ishimura M, Eguchi K, Sonoda M, Shiraishi A, Ohga S. Ishimura M, et al. Rinsho Ketsueki. 2021;62(8):1327-1333. doi: 10.11406/rinketsu.62.1327. Rinsho Ketsueki. 2021. PMID: 34497223 Japanese.
Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion-dependent patients if reduced-intensity conditioning and long-term screening for relapse can be successfully implemented. Primary immunodeficiency diseases (PIDs) arise from inborn …
Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion-dependent patients if reduced-intensity conditi …
Favorable outcomes of interferon-α and ribavirin treatment for a male with subacute sclerosing panencephalitis.
Sonoda Y, Sonoda M, Yonemoto K, Sanefuji M, Taira R, Motomura Y, Ishimura M, Torisu H, Kira R, Kusuhara K, Sakai Y, Ohga S. Sonoda Y, et al. Among authors: ishimura m. J Neuroimmunol. 2021 Sep 15;358:577656. doi: 10.1016/j.jneuroim.2021.577656. Epub 2021 Jul 8. J Neuroimmunol. 2021. PMID: 34304142
Subacute sclerosing panencephalitis (SSPE) is a slow virus infection associated with mutant measles virus (MeV). The long-term outcome of antiviral treatments remains to be determined. We herein present a Japanese boy who was diagnosed with SSPE at 10 years of age. ...
Subacute sclerosing panencephalitis (SSPE) is a slow virus infection associated with mutant measles virus (MeV). The long-term outcom …
Durability of mitral isthmus ablation with and without ethanol infusion in the vein of Marshall.
Ishimura M, Yamamoto M, Himi T, Kobayashi Y. Ishimura M, et al. J Cardiovasc Electrophysiol. 2021 Aug;32(8):2116-2126. doi: 10.1111/jce.15107. Epub 2021 May 30. J Cardiovasc Electrophysiol. 2021. PMID: 34028116
INTRODUCTION: Ethanol infusion in the vein of Marshall (EIVOM) effectively creates a linear ablation lesion in the mitral isthmus (MI). However, data on the long-term success rates of MI ablation is limited. METHODS AND RESULTS: Our cohort consisted of 560 patients with no …
INTRODUCTION: Ethanol infusion in the vein of Marshall (EIVOM) effectively creates a linear ablation lesion in the mitral isthmus (MI). Howe …
17 results