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Your search keyword '"Ikejiri, Makoto"' showing total 7 results
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7 results on '"Ikejiri, Makoto"'

1. A novel protein S gene mutation combined with protein S Tokushima mutation in a patient with superior sagittal sinus thrombosis.

Author

Shindo A, Ikejiri M, Ii Y, Nakatani K, Wada H, Nobori T, and Tomimoto H

Subjects
Aged, Cerebral Angiography, DNA chemistry, DNA genetics, Exons, Female, Humans, Introns, Magnetic Resonance Imaging, Phlebography, Recurrence, Thrombophilia blood, Thrombophilia genetics, Mutation genetics, Protein S genetics, Sagittal Sinus Thrombosis genetics
Published
2012
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2. The association of protein S Tokushima-K196E with a risk of deep vein thrombosis.

Author

Ikejiri M, Wada H, Sakamoto Y, Ito N, Nishioka J, Nakatani K, Tsuji A, Yamada N, Nakamura M, Ito M, and Nobori T

Subjects
Case-Control Studies, Gene Frequency, Genetic Association Studies, Humans, Japan epidemiology, Risk Factors, Venous Thrombosis etiology, Mutation, Missense, Protein S genetics, Venous Thrombosis genetics
Abstract

Deep vein thrombosis (DVT) is a multifactorial disease caused by acquired risk factors such as a bed rest, surgery and malignancies. Although the factor V Leiden and the prothrombin-20210G>A mutation do not exist in Japanese populations, a mutation in protein S (PS) Tokushima (K196E) has been attracting attention in Japan. In this study, the genetic contribution of PS Tokushima (K196E) was evaluated in 60 Japanese patients with thrombosis in comparison to 234 healthy volunteers and 88 patients without thrombosis. Genes associated with the response to warfarin, cytochrome P450 2C9 (CYP2C9), vitamin K epoxide reductase complex subunit 1 (VKORC1), and γ-glutamyl carboxylase (GGCX) were also investigated simultaneously. PS Tokushima (K196E) was detected in 6 patients with thrombosis, in 3 without thrombosis and in 3 healthy volunteers, indicating that there is a high frequency of the PS Tokushima (K196E). There were no significant differences of CYP2C9, VKORC1 or GGCX between the patients with and without DVT. Therefore, PS Tokushima (K196E) is an important genetic risk factor for DVT in the Japanese population.

Published
2010
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3. Analysis three abnormal Protein S genes in a patient with pulmonary embolism.

Author

Ikejiri M, Tsuji A, Wada H, Sakamoto Y, Nishioka J, Ota S, Yamada N, Matsumoto T, Nakatani K, Nobori T, and Itoh M

Subjects
Adult, Alleles, Animals, Antigens analysis, Cell Line, Female, Humans, Protein S analysis, Protein S immunology, Transfection, Venous Thrombosis, Mutation, Missense, Protein S genetics, Pulmonary Embolism genetics
Abstract

A protein S (PS) abnormality is a hereditary risk factor for thromboembolism. A 33-year-old female had a left deep vein thrombosis (DVT) and mild pulmonary embolism (PE). Her PS antigen level was 34.7% and the activity level was less than 10%. Genetic analysis identified three missense mutations in PS: the D38Y mutation in exon 3, and the T589I mutation and P626L mutations in exon 15. The D38Y mutation has not been reported previously. An analysis of the patient's family revealed that all members of the family had some PS gene mutation. The D38Y and T589I mutations were both in same allele, the P626L mutation was in another allele. The expression of PS mutations in COS-7 cells revealed that PS activity and antigen were markedly decreased in the D38Y mutation but not in the T589I mutation. The expression of the P626L mutation in baby hamster kidney (BHK) cells showed the PS activity and antigen to be markedly decreased in comparison to the wild type., (Copyright 2010 Elsevier Ltd. All rights reserved.)

Published
2010
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6. Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis

Author

Hidekazu Tomimoto, Hideo Wada, Kaname Nakatani, Ikejiri Makoto, Takeshi Matsumoto, Shuji Isaji, Masanobu Usui, Yoshiki Yamashita, Shigehisa Tamaki, Kohshi Ohishi, and Akihiro Shindo

Subjects
Adult, Male, medicine.medical_specialty, genetic structures, 030204 cardiovascular system & hematology, Gene mutation, medicine.disease_cause, Thrombophilia, behavioral disciplines and activities, Gastroenterology, Protein S, superior mesenteric vein thrombosis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, mental disorders, medicine, Humans, portal vein thrombosis, Vein, Aged, Aged, 80 and over, Venous Thrombosis, Mutation, biology, Portal Vein, business.industry, Antithrombin, Original Articles, Hematology, General Medicine, Middle Aged, medicine.disease, Portal vein thrombosis, medicine.anatomical_structure, biology.protein, Female, 030211 gastroenterology & hepatology, business, Protein C, medicine.drug
Abstract

We explored the relationship between abdominal vein thromboses, including portal vein thrombosis (PVT) and superior mesenteric vein thrombosis (SMVT), and thrombophilia. The frequency of thrombophilia, such as antithrombin (AT), protein C (PC), or protein S (PS) gene mutations, was examined in 21 patients with PVT, 6 patients with SMVT, and 6 patients with both PVT and SMVT. Low levels of AT, PC, or PS were frequently detected in patients with PVT or mesenteric vein thrombosis, and 4 mutations in the PS gene, 3 mutations in the PC gene, and 2 mutations in AT the gene were detected. Protein S Tokushima was detected in 3 of 4 patients with a PS gene mutation and was associated with 2 other PS gene mutations. The onset of PVT or SMVT was almost idiopathic in patients with congenital thrombophilia. Both PVT and SMVT were frequently caused by an AT, a PC, or a PS mutation, and the onset of these thromboses due to thrombophilia was frequently idiopathic.

Published
2018

7. Frequent association of thrombophilia in cerebral venous sinus thrombosis

Author

Ikejiri, Makoto

Subjects
Cerebral venous sinus thrombosis (CVST), Antithrombin, Thrombophilia, Protein C, Protein S
Abstract

Thrombophilia is frequently associated with venous thromboembolism (VTE) including cerebral venous sinus thrombosis (CVST). The possibility of thrombophilia was examined in 12 patients with CSVT diagnosed in the past 9 years. Thrombophilia due to abnormalities in antithrombin(AT), protein C (PC), or protein S (PS) or antiphospholipid syndrome (APS) was evaluated. Nine patients with abnormally decreased AT, PC or PS and one patient with APS were examined. Of the nine patients examined by a gene analysis of AT, PC, or PS, one had a congenital AT deficiency, one had a congenital PC deficiency, and two had congenital PS deficiencies including a novel mutant(Gly189Ala). AT, PC and PS levels were all decreased in one patient, PS level was decreased in three patients, and AT level was decreased in one patient at the onset of CVST, but these concentrations improved after treatment. CVST is frequently associated with thrombophilia and a transient decrease in AT, PC or PS may be a causal factor., 本文/Central Laboratory, Mie University Graduate School of Medicine, Tsu, Japan, 6p

Published
2014

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