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Article ; Online: Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Inoue, Tadashi / Takase, Ryuta / Uchida, Keiko / Kodo, Kazuki / Suda, Kenji / Watanabe, Yoriko / Yoshiura, Koh-Ichiro / Kunimatsu, Masaya / Ishizaki, Reina / Azuma, Kenko / Inai, Kei / Muneuchi, Jun / Furutani, Yoshiyuki / Akagawa, Hiroyuki / Yamagishi, Hiroyuki

Journal of human genetics

2024 Volume 69, Issue 5, Page(s) 223

Language	English
Publishing date	2024-03-08
Publishing country	England
Document type	Published Erratum
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-024-01238-5
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Article ; Online: Optimized radiotherapy treatment strategy for early glottic carcinoma.

Ono, Tamami / Itoh, Yoshiyuki / Ishihara, Shunichi / Kawamura, Mariko / Oie, Yumi / Takase, Yuuki / Okumura, Masayuki / Oyoshi, Hidekazu / Nagai, Naoya / Naganawa, Shinji

Nagoya journal of medical science

2023 Volume 85, Issue 2, Page(s) 241–254

Abstract: The local control rates of T1 bulky and T2 glottic carcinoma treated via radiation therapy alone are unsatisfactory; thus, we aimed to evaluate the efficacy and safety of our treatment protocol for early glottic carcinoma. Patients with early glottic ... ...

Abstract	The local control rates of T1 bulky and T2 glottic carcinoma treated via radiation therapy alone are unsatisfactory; thus, we aimed to evaluate the efficacy and safety of our treatment protocol for early glottic carcinoma. Patients with early glottic squamous cell carcinoma treated via radiation therapy from January 2007 to November 2019 were reviewed. Patients were treated with: 63-67.5 Gy/28-30 fractions of radiation therapy alone for T1 non-bulky; concurrent chemoradiotherapy with S-1 and 60 Gy/30 fractions for T1 bulky and T2 favorable; and concurrent chemoradiotherapy with high-dose cisplatin and 66-70 Gy/33-35 fractions for T2 unfavorable glottic carcinoma. Local failure rates were estimated using the cumulative incidence function, overall and disease specific survival rates were estimated using Kaplan-Meier analysis, and adverse events were evaluated. Eighty patients were analyzed; the median age was 69.5 (range, 26-90) years, the median follow-up time for survivors was 40.1 (range, 1.9-128.4) months, and the 3-year local failure, disease specific survival, and overall survival rates were 5.8%, 98.3%, and 94.4%, respectively. In T1 bulky and T2 cases, the local failure rate was significantly lower in the concurrent chemoradiotherapy than in the radiation therapy alone group. Grade 3 acute dermatitis and mucositis were noted in nine and four patients, respectively. There were no acute adverse events of Grade 4 or higher, or late adverse events of Grade 2 or higher. The treatment protocol was effective and well-tolerated; thus, the efficacy of concurrent chemoradiotherapy was suggested in T1 bulky and T2 cases.
MeSH term(s)	Humans ; Aged ; Carcinoma, Squamous Cell/drug therapy ; Laryngeal Neoplasms/drug therapy ; Chemoradiotherapy ; Kaplan-Meier Estimate ; Cisplatin/therapeutic use
Chemical Substances	Cisplatin (Q20Q21Q62J)
Language	English
Publishing date	2023-06-13
Publishing country	Japan
Document type	Journal Article
ZDB-ID	193148-9
ISSN	2186-3326 ; 0027-7622
ISSN (online)	2186-3326
ISSN	0027-7622
DOI	10.18999/nagjms.85.2.241
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Article ; Online: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Journal of human genetics

2024 Volume 69, Issue 5, Page(s) 215–222

Abstract: Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of ... ...

Abstract	Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA. The c.1617del of TMEM260 has been found only in East Asians, especially Japanese and Korean populations, and the frequency of this variant in PTA is estimated to be next to that of the 22q11.2 deletion, the most well-known genetic cause of PTA. Phenotype of patients with c.1617del appears to be predominantly in the heart, although TMEM260 is responsible for structural heart defects and renal anomalies syndrome (SHDRA). The mouse TMEM260 variant (p.W535Cfs56), synonymous with the human variant (p.W539Cfs9), exhibited truncation and downregulation by western blotting, and aggregation by immunocytochemistry. In situ hybridization demonstrated that Tmem260 is expressed ubiquitously during embryogenesis, including in the development of cardiac OFT implicated in PTA. This expression may be regulated by a ~ 0.8 kb genomic region in intron 3 of Tmem260 that includes multiple highly conserved binding sites for essential cardiac transcription factors, thus revealing that the c.1617del variant of TMEM260 is the major single-gene variant responsible for PTA in the Japanese population.
MeSH term(s)	Animals ; Female ; Humans ; Male ; Mice ; Asian People/genetics ; East Asian People ; Exome Sequencing ; Genetic Predisposition to Disease ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Japan ; Membrane Proteins/genetics ; Pedigree ; Phenotype
Chemical Substances	Membrane Proteins ; transmembrane protein 260, human
Language	English
Publishing date	2024-02-26
Publishing country	England
Document type	Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-024-01225-w
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Article ; Online: Coronary neovascularity in "cystic" left ventricular thrombus: a lacked puzzle piece.

Takase, Yoshiyuki / Nagai, Tomoo

Journal of echocardiography

2016 Volume 15, Issue 2, Page(s) 97–98

MeSH term(s)	Cardiac Surgical Procedures/methods ; Coronary Angiography ; Coronary Circulation ; Coronary Vessels/diagnostic imaging ; Coronary Vessels/physiopathology ; Diagnosis, Differential ; Echocardiography, Doppler, Color ; Heart Diseases/diagnosis ; Heart Diseases/surgery ; Humans ; Male ; Middle Aged ; Neovascularization, Pathologic ; Thrombectomy/methods ; Thrombosis/diagnosis ; Thrombosis/surgery
Language	English
Publishing date	2016-10-15
Publishing country	Japan
Document type	Case Reports ; Journal Article ; Video-Audio Media
ZDB-ID	2209473-8
ISSN	1880-344X ; 1349-0222
ISSN (online)	1880-344X
ISSN	1349-0222
DOI	10.1007/s12574-016-0320-6
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Article ; Online: Observational Study of Infective Endocarditis at a Community-based Hospital: Dominance of Elderly Patients with Comorbidity.

Nagai, Tomoo / Takase, Yoshiyuki / Hamabe, Akira / Tabata, Hirotsugu

Internal medicine (Tokyo, Japan)

2018 Volume 57, Issue 3, Page(s) 301–310

Abstract: Objective The purpose of this study was to present the recent clinical profiles and the real-world management of infective endocarditis (IE). Methods All medical records of patients with IE were reviewed retrospectively for their clinical data, including ...

Abstract	Objective The purpose of this study was to present the recent clinical profiles and the real-world management of infective endocarditis (IE). Methods All medical records of patients with IE were reviewed retrospectively for their clinical data, including clinical presentation, laboratory results, blood cultures, echocardiographic findings, treatments and complications. Using the clinical data collected, we calculated the EuroSCORE II, the European risk score for adult cardiac surgery, the Charlson Comorbidity Index as a surrogate of comordibity, and the Katz Index as a surrogate of frailty. Results Thirty-eight patients were identified as having IE (24 men, age: 71.8±13.1 years). Congestive heart failure occurred in 16 patients (42%), stroke in 14 (50%), and systemic embolism in 5 (13%). The EuroSCORE II and Charlson Comorbidity Index were high (7.7±5.8% and 5.5±2.8%, respectively). The Katz Index was fair (5.5±1.4) before the onset but deteriorated to 2.8±2.7 at the time of establishing the diagnosis of IE (p<0.001). Early surgery was performed in 22 cases (61%). In-hospital death occurred in 10 cases (26%). A EuroSCORE II ≥9%, Staphylococcus aureus etiology, and a Charlson Comorbidity Index were suggested as determinants of in-hospital death (hazard ratios: 173.60, 9.31, 1.57, respectively). In contrast, early surgery was suggested as a determinant of the survival (hazard ratio: 0.04). The Charlson Comorbidity Index was also suggested as a determinant for selecting conservative management (odds ratio: 1.40). Conclusion Comorbidity may influence the treatment selection and outcome of elderly patients with IE.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Comorbidity ; Endocarditis/complications ; Endocarditis/diagnosis ; Endocarditis/epidemiology ; Endocarditis/therapy ; Female ; Hospital Mortality ; Hospitals, Community ; Humans ; Japan/epidemiology ; Male ; Middle Aged ; Prognosis ; Retrospective Studies
Language	English
Publishing date	2018-02-01
Publishing country	Japan
Document type	Journal Article ; Observational Study
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.9274-17
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Article ; Online: Progression of Left Ventricular Fibrosis in a Woman with Anderson-Fabry Disease: Longitudinal Observations Using Two-Dimensional Speckle-Tracking Echocardiography.

Takase, Yoshiyuki / Nagai, Tomoo / Kubota, Takao / Takeo, Hiroaki / Kosuga, Motomichi / Okuyama, Torayuki / Tabata, Hirotsugu

CASE (Philadelphia, Pa.)

2018 Volume 2, Issue 2, Page(s) 69–72

Language	English
Publishing date	2018-02-14
Publishing country	United States
Document type	Case Reports
ISSN	2468-6441
ISSN (online)	2468-6441
DOI	10.1016/j.case.2017.10.004
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Article ; Online: Early glottic cancer treatment with concurrent chemoradiotherapy with once-daily orally administered S-1.

Takase, Yuuki / Itoh, Yoshiyuki / Ohtakara, Kazuhiro / Kawamura, Mariko / Ito, Junji / Oie, Yumi / Ono, Tamami / Sasaki, Yutaro / Nishida, Ayumi / Naganawa, Shinji

Nagoya journal of medical science

2021 Volume 83, Issue 2, Page(s) 251–258

Abstract: Glottic carcinoma is the most common laryngeal cancer. The outcomes for T1 bulky Glottic carcinoma and T2N0 Glottic carcinoma after radiation therapy alone are unsatisfactory. This study was conducted to evaluate the efficacy and safety of unique ... ...

Abstract	Glottic carcinoma is the most common laryngeal cancer. The outcomes for T1 bulky Glottic carcinoma and T2N0 Glottic carcinoma after radiation therapy alone are unsatisfactory. This study was conducted to evaluate the efficacy and safety of unique concurrent chemoradiotherapy regimen using S-1 for early glottic cancer. Concurrent chemoradiotherapy consisted of 60 Gy in 30 fractions with once-daily, orally administered S-1 exclusively within three to six hours prior to each irradiation. Twenty-one consecutive patients treated with this regimen were retrospectively reviewed. Initial complete remission was achieved in all patients without any subsequent local and/or regional recurrences to the last follow-up. The 4-year local control, overall survival, and disease-free survival rates were all 100%. No significant toxicities were observed, except for three cases with Grade 3 acute dermatitis.This regimen is highly effective and well-tolerated, and these results encourage further research to long-term efficacy and functional preservation.
MeSH term(s)	Chemoradiotherapy ; Glottis/pathology ; Humans ; Laryngeal Neoplasms/drug therapy ; Laryngeal Neoplasms/radiotherapy ; Neoplasm Staging ; Retrospective Studies
Language	English
Publishing date	2021-07-08
Publishing country	Japan
Document type	Journal Article
ZDB-ID	193148-9
ISSN	2186-3326 ; 0027-7622
ISSN (online)	2186-3326
ISSN	0027-7622
DOI	10.18999/nagjms.83.2.251
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Article ; Online: Intracardiac Echocardiography as a Guide for Transcatheter Closure of Patent Ductus Arteriosus.

Yoshimoto, Hironaga / Yasuto, Maeda / Inoue, Tadashi / Kagiyama, Yoshiyuki / Teramachi, Yozo / Takase, Ryuta / Koteda, Yusuke / Fukumoto, Yoshihiro / Iemura, Motofumi / Suda, Kenji

Journal of interventional cardiology

2020 Volume 2020, Page(s) 5147193

Abstract: Background: Transcatheter closure of patent ductus arteriosus (TC-PDA), conventionally guided by aortography, has become the standard treatment of this disease. The purposes of this study were to evaluate whether intracardiac echocardiography (ICE) may ... ...

Abstract	Background: Transcatheter closure of patent ductus arteriosus (TC-PDA), conventionally guided by aortography, has become the standard treatment of this disease. The purposes of this study were to evaluate whether intracardiac echocardiography (ICE) may be used for measuring PDA size and be used as a guide for TC-PDA. Methods: This study had 2 phases. In phase 1, we compared the measurements of PDA size: pulmonary artery side diameter (PA-D), length, and aortic side diameter (Ao-D) of PDA, as measured by ICE with those measured by aortography or cardiac computed tomography (AoG/CCT) in 23 patients who underwent TC-PDA. In phase 2, we compared the demographics, fluoroscopic time, contrast volume, and complications of the TC-PDAs between 10 adult patients with ICE guidance and 16 without it. Results: In phase 1, we found great correlation and agreement between ICE and AoG/CCT in PA-D ( Conclusion: ICE is comparable to AoG/CCT in providing accurate PA-D of the PDA and may be a safe alternative to guide TC-PDA as compared to conventional aortography.
MeSH term(s)	Adult ; Aortography ; Cardiac Catheterization ; Child, Preschool ; Ductus Arteriosus, Patent/diagnostic imaging ; Ductus Arteriosus, Patent/surgery ; Echocardiography ; Female ; Fluoroscopy ; Humans ; Infant ; Male ; Pulmonary Artery ; Treatment Outcome ; Ultrasonography, Interventional
Language	English
Publishing date	2020-07-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	1036325-7
ISSN	1540-8183 ; 0896-4327
ISSN (online)	1540-8183
ISSN	0896-4327
DOI	10.1155/2020/5147193
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Article ; Online: Poor local control of ulcerative T1 glottic cancer treated with 2.25-Gy per fraction radiotherapy.

Oie, Yumi / Itoh, Yoshiyuki / Kawamura, Mariko / Takase, Yuuki / Murao, Takayuki / Ishihara, Shunichi / Nomoto, Yoshihito / Hirasawa, Naoki / Asano, Akiko / Yamakawa, Kouji / Ito, Junji / Kinoshita, Fumie / Naganawa, Shinji

Nagoya journal of medical science

2021 Volume 83, Issue 4, Page(s) 811–825

Abstract: The Tokai Study Group for Therapeutic Radiology and Oncology (TOSTRO) started managing T1 glottic cancer using 2.25 Gy/fraction radiotherapy in 2011. The aim was to evaluate the local control (LC) rate and toxicity with 2.25-Gy radiotherapy in clinical ... ...

Abstract	The Tokai Study Group for Therapeutic Radiology and Oncology (TOSTRO) started managing T1 glottic cancer using 2.25 Gy/fraction radiotherapy in 2011. The aim was to evaluate the local control (LC) rate and toxicity with 2.25-Gy radiotherapy in clinical practice and identify prognostic factors.The eligibility criteria were T1 glottic squamous cell carcinoma patients with age ≥20 years, treated with 2.25 Gy/fraction without chemotherapy between 2011 and 2017. LC rates were evaluated based on age, performance status, sex, T-category, tumor type (ulcerative or non-ulcerative), presence of anterior commissure invasion, tumor size, X-ray beam energy, and overall treatment time. Acute and late adverse events were evaluated using CTCAE version 4.0. A total of 202 patients were enrolled. The median follow-up period was 34.2 months. The 2- and 4-year LC rates were 93.8% and 93.1%, respectively. There was a significant difference in the LC rate between non-ulcerative type and ulcerative type (95.2% vs. 74.1% at 2 years, 94.4% vs. 74.1% at 4 years;
MeSH term(s)	Adult ; Carcinoma, Squamous Cell/pathology ; Carcinoma, Squamous Cell/radiotherapy ; Dose Fractionation, Radiation ; Glottis ; Humans ; Laryngeal Neoplasms/pathology ; Laryngeal Neoplasms/radiotherapy ; Radiation Oncology ; Tongue Neoplasms ; Treatment Outcome ; Young Adult
Language	English
Publishing date	2021-12-17
Publishing country	Japan
Document type	Journal Article
ZDB-ID	193148-9
ISSN	2186-3326 ; 0027-7622
ISSN (online)	2186-3326
ISSN	0027-7622
DOI	10.18999/nagjms.83.4.811
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Article ; Online: Experience using donor human milk: A single-center cohort study in Japan.

Oikawa, Kosuke / Nakano, Yuya / Miyazawa, Tokuo / Hasebe, Yoshiyuki / Kuwabara, Haruhiro / Terada, Tomomasa / Sugishita, Yumiko / Ebata, Akio / Takase, Mariko / Ochiai, Hirotaka / Kokaze, Akatsuki / Mizuno, Katsumi

Pediatrics international : official journal of the Japan Pediatric Society

2021 Volume 64, Issue 1, Page(s) e15071

Abstract: Background: Donor human milk (DHM) became available in Japan when the first human milk bank was established in 2017. This study investigated the effects of DHM on enteral nutrition (EN) in very low birth weight (VLBW) infants in the single center in ... ...

Abstract	Background: Donor human milk (DHM) became available in Japan when the first human milk bank was established in 2017. This study investigated the effects of DHM on enteral nutrition (EN) in very low birth weight (VLBW) infants in the single center in Japan. Methods: Seventy-six VLBW infants hospitalized between April 2017 and March 2020 at Showa University Hospital were included in the study. We retrospectively evaluated age (hours) at which EN was initiated and age (days) until complete feeding (EN > 100 mL/kg/day) was achieved. We compared the DHM and non-DHM groups, or the early human milk (EHM) and non-EHM groups. The EHM group was defined as those in which EN was initiated with the mother's own milk or DHM within 12 h of birth. Results: In 30 extremely low birth weight (ELBW) infants, EN was initiated at significantly earlier postnatal hours in the DHM group compared to those in the non-DHM group. Complete feeding was achieved at significantly earlier ages in the EHM group after adjusting for gastrointestinal complications and gestational age. Additionally, the changes in body weight z-scores from birth to term-equivalent age were significantly greater in the EHM group after adjusting for exclusive breastfeeding and small for gestational age, compared to the non-EHM group. Statistical significance was not noted in 46 subjects (birth weight, 1000-1500 g). Conclusion: The use of DHM may contribute to earlier initiation and achievement of EN, resulting in greater early postnatal growth in ELBW infants in Japan.
Language	English
Publishing date	2021-11-24
Publishing country	Australia
Document type	Journal Article
ZDB-ID	1470376-2
ISSN	1442-200X ; 1328-8067
ISSN (online)	1442-200X
ISSN	1328-8067
DOI	10.1111/ped.15071
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