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Article ; Online: Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21).

Abe, Akihiro / Yamamoto, Yukiya / Katsumi, Akira / Okamoto, Akinao / Tokuda, Masutaka / Inaguma, Yoko / Yamamoto, Kiyoko / Yanada, Masamitsu / Kanie, Tadaharu / Tomita, Akihiro / Akatsuka, Yoshiki / Okamoto, Masataka / Kameyama, Toshiki / Mayeda, Akila / Emi, Nobuhiko

International journal of hematology

2017 Volume 108, Issue 2, Page(s) 208–212

Abstract: Variant chromosomal translocations associated with t(8;21) are observed in 3-4 ... of t(8;21) are not well characterized. In the present study, we report genetic features of a variant ... three-way translocation of t(8;12;21)(q22;p11;q22) in a patient with AML. In this patient, leukemia ...

Abstract	Variant chromosomal translocations associated with t(8;21) are observed in 3-4% of acute myeloid leukemia (AML) cases with a RUNX1-RUNX1T1 fusion gene. However, the molecular events that occur in variants of t(8;21) are not well characterized. In the present study, we report genetic features of a variant three-way translocation of t(8;12;21)(q22;p11;q22) in a patient with AML. In this patient, leukemia cells lacked azurophilic granules, which does not correspond with the classic features of t(8;21). RNA-seq analysis revealed that TM7SF3 at 12p11 was fused to VPS13B at 8q22 and VPS13B to RUNX1, in addition to RUNX1-RUNX1T1. VPS13B was located near RUNX1T1 and both were localized at the same chromosomal bands. The reading frames of TM7SF3 and VPS13B did not match to those of VPS13B and RUNX1, respectively. Disruption of VPS13B causes Cohen syndrome, which presents intermittent neutropenia with a left-shifted granulopoiesis in the bone marrow. Disruption of VPS13B may thus cause the unusual features of RUNX1-RUNX1T1 leukemia. Our case indicates that rearrangement of VPS13B may be additional genetic events in variant t(8;21).
MeSH term(s)	Chromosomes, Human, Pair 12/genetics ; Chromosomes, Human, Pair 21/genetics ; Chromosomes, Human, Pair 8/genetics ; Core Binding Factor Alpha 2 Subunit/genetics ; Developmental Disabilities/genetics ; Female ; Fingers/abnormalities ; Gene Rearrangement/genetics ; Humans ; Intellectual Disability/genetics ; Leukemia, Myeloid, Acute/genetics ; Microcephaly/genetics ; Middle Aged ; Muscle Hypotonia/genetics ; Myopia/genetics ; Obesity/genetics ; RUNX1 Translocation Partner 1 Protein/genetics ; Translocation, Genetic/genetics ; Vesicular Transport Proteins/genetics
Chemical Substances	Core Binding Factor Alpha 2 Subunit ; RUNX1 Translocation Partner 1 Protein ; RUNX1 protein, human ; RUNX1T1 protein, human ; VPS13B protein, human ; Vesicular Transport Proteins
Language	English
Publishing date	2017-12-20
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	1076875-0
ISSN	1865-3774 ; 0917-1258 ; 0925-5710
ISSN (online)	1865-3774
ISSN	0917-1258 ; 0925-5710
DOI	10.1007/s12185-017-2387-x
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Article: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Maeda, Yasunori / Sasaki, Akira / Kasai, Shuya / Goto, Shinichi / Nishio, Shin-Ya / Sawada, Kaori / Tokuda, Itoyo / Itoh, Ken / Usami, Shin-Ichi / Matsubara, Atsushi

Human genome variation

2020 Volume 7, Page(s) 27

Abstract: ... and mitochondrial 1494 C>T (m.1494 C>T), are known to be causative mutations of nonsyndromic ... hearing loss following exposure to aminoglycoside antibiotics. The prevalence of the m.1555 A>G and m.1494 C>T ... to investigate the prevalence of m.1555 A>G and m.1494 C>T mutations in a community-dwelling population in Japan ...

Abstract	Single nucleotide polymorphisms in mitochondrial DNA, such as mitochondrial 1555 A>G (m.1555 A>G) and mitochondrial 1494 C>T (m.1494 C>T), are known to be causative mutations of nonsyndromic hearing loss following exposure to aminoglycoside antibiotics. The prevalence of the m.1555 A>G and m.1494 C>T mutations has not been reported for the general population in Japan. The purpose of this study was to investigate the prevalence of m.1555 A>G and m.1494 C>T mutations in a community-dwelling population in Japan in order to prevent aminoglycoside-induced hearing loss. We recruited participants older than 20 years of age to the Iwaki Health Promotion Project in 2014, 2015, and 2016, resulting in the recruitment of 1,683 participants. For each participant, we performed a hearing test and a genetic test for the m.1555 A>G and m.1494 C>T mutations using the TaqMan genotyping method. The m.1555 A>G mutation was detected in only 1 of the 1,683 participants (0.06%). This carrier of the m.1555 A>G mutation was a 69-year-old male with bilateral, symmetric, and high-frequency hearing loss. We provided genetic counseling and distributed a drug card advising him to avoid the administration of aminoglycoside antibiotics. In contrast, the m.1494 C>T mutation was not detected in this study population.
Language	English
Publishing date	2020-09-18
Publishing country	England
Document type	Journal Article
ISSN	2054-345X
ISSN	2054-345X
DOI	10.1038/s41439-020-00115-9
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Article: Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.

Maeda, Yasunori / Sasaki, Akira / Kasai, Shuya / Goto, Shinichi / Nishio, Shin-Ya / Sawada, Kaori / Tokuda, Itoyo / Itoh, Ken / Usami, Shin-Ichi / Matsubara, Atsushi

Human genome variation

2020 Volume 7, Page(s) 36

Abstract: This corrects the article DOI: 10.1038/s41439-020-00115-9.]. ...

Abstract	[This corrects the article DOI: 10.1038/s41439-020-00115-9.].
Language	English
Publishing date	2020-10-27
Publishing country	England
Document type	Published Erratum
ISSN	2054-345X
ISSN	2054-345X
DOI	10.1038/s41439-020-00123-9
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Article ; Online: Effect of the ratio of axial length to keratometry on SRK/T intraocular lens power calculations for eyes with long axial lengths.

Mori, Yosai / Minami, Keiichiro / Tokuda, Shota / Lee, Jinhee / Miyata, Kazunori

Scientific reports

2019 Volume 9, Issue 1, Page(s) 19515

Abstract: ... of the SRK/T formulas were obtained from manifest refraction spherical equivalents one month postoperatively ... With the regression equation, 98% of prediction errors with the use of the SRK/T formula were within ±1.00 D ... prediction errors with the use of SRK/T for long eyes. ...

Abstract	This retrospective study explored the effect of the ratio of axial length (AL) to average keratometry (K) on intraocular lens power calculation in long eyes. The clinical records of eyes that had an AL of 26.0 mm or longer, and underwent cataract surgery with intraocular lens implantations, were reviewed. This study was approved by the institutional review board of Miyata Eye Hospital. Preoperative biometry data were obtained using optical low-coherence reflectometry. Prediction errors in the use of the SRK/T formulas were obtained from manifest refraction spherical equivalents one month postoperatively. Significant factors inducing prediction errors were examined using stepwise multiple regression analysis with descriptive factors of AL, K value, and their ratio (AL/K). Clinical records related to 49 long eyes of 49 patients, and 93 eyes of 93 patients with normal AL, were evaluated. Stepwise multiple regression analysis revealed that the AL/K was a significant factor increasing the prediction errors (P = 0.0003). With the regression equation, 98% of prediction errors with the use of the SRK/T formula were within ±1.00 D of differences. For our sample of 49 long eyes, the ratio of AL to K was a significant factor inducing hyperopic prediction errors with the use of SRK/T for long eyes.
MeSH term(s)	Aged ; Biometry/methods ; Humans ; Lenses, Intraocular ; Middle Aged ; Postoperative Period ; Preoperative Period ; Regression Analysis ; Retrospective Studies
Language	English
Publishing date	2019-12-20
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-019-56116-4
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Book ; Online: Thickness-induced crossover from strong to weak collective pinning in exfoliated FeTe$_{0.6}$Se$_{0.4}$ thin films at 1 T

Nakamura, Ryoya / Tokuda, Masashi / Watanabe, Mori / Nakajima, Masamichi / Kobayashi, Kensuke / Niimi, Yasuhiro

2021

Abstract: ... c}}$ at a fixed magnetic field of 1 T, we found that the strong pinning is dominant below $d \approx ...

Abstract	We studied flux pinning in exfoliated FeTe$_{0.6}$Se$_{0.4}$ thin-film devices with a thickness $d$ from 30 to 150 nm by measuring the critical current density $J_{\mathrm{c}}$. In bulk FeTe$_{0.6}$Se$_{0.4}$, the flux pinning has been discussed in the framework of weak collective pinning, while there is little knowledge on the pinning mechanism in the thin-film region. From the thickness $d$ dependence of $J_{\mathrm{c}}$ at a fixed magnetic field of 1 T, we found that the strong pinning is dominant below $d \approx 70$ nm, while the weak collective pinning becomes more important above $d \approx 100$ nm. This crossover thickness can be explained by the theoretical model proposed by van der Beek $\textit{et al}$ [Phys. Rev. B. ${\bf 66}$, 024523 (2002)]. Comment: 8 pages, 6 figures
Keywords	Condensed Matter - Mesoscale and Nanoscale Physics ; Condensed Matter - Materials Science ; Condensed Matter - Superconductivity
Subject code	530
Publishing date	2021-10-20
Publishing country	us
Document type	Book ; Online
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Article: [How Helpful are Blood and Cerebrospinal Fluid Biomarkers for the Early Diagnosis of Alzheimer's Disease?]

Tokuda, Takahiko

Brain and nerve = Shinkei kenkyu no shinpo

2023 Volume 75, Issue 8, Page(s) 915–921

Abstract: ... tau (T), and neurodegeneration (N). Originally, all the ATN fluid biomarkers were assessed using ... A," "T," and "N" biomarkers, respectively, are useful in the early diagnosis of AD. However, further ...

Abstract	Early diagnosis of Alzheimer's disease (AD) relies on imaging and fluid biomarkers to objectively detect and quantitatively evaluate brain AD pathologies. Amyloid- and tau-PET scans recently enabled clinicians to make definitive diagnoses based on abnormal amyloid/tau deposition in the human brain. Since PET scans and blood-based biomarkers are mutually complementary, the identification of suitable blood-based biomarkers is essential for screening brain AD pathologies. According to the National Institute on Aging and Alzheimer's Association (NIA-AA) Research Framework published in 2018, AD is defined by its underlying pathologic processes, which can be diagnosed in vivo using suitable biomarkers. These biomarkers are categorized under the ATN classification system, including β amyloid deposition (A), pathologic tau (T), and neurodegeneration (N). Originally, all the ATN fluid biomarkers were assessed using cerebrospinal fluid, but currently these biomarkers can be quantified using blood samples. Among those blood-based ATN biomarkers, the plasma levels of Aβ42/40 ratio, p-tau, and neurofilament light chain (NfL) representing "A," "T," and "N" biomarkers, respectively, are useful in the early diagnosis of AD. However, further studies and additional data are required before utilizing these blood-based biomarkers as stand-alone diagnostic markers for AD.
MeSH term(s)	Humans ; Alzheimer Disease/diagnosis ; Alzheimer Disease/pathology ; Amyloid beta-Peptides ; tau Proteins ; Early Diagnosis ; Biomarkers ; Peptide Fragments/cerebrospinal fluid
Chemical Substances	Amyloid beta-Peptides ; tau Proteins ; Biomarkers ; Peptide Fragments
Language	Japanese
Publishing date	2023-08-03
Publishing country	Japan
Document type	English Abstract ; Journal Article
ZDB-ID	390389-8
ISSN	1344-8129 ; 1881-6096 ; 0006-8969
ISSN (online)	1344-8129
ISSN	1881-6096 ; 0006-8969
DOI	10.11477/mf.1416202445
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Article ; Online: Transperineal in-bore 3-T MR imaging-guided prostate biopsy: a prospective clinical observational study.

Penzkofer, Tobias / Tuncali, Kemal / Fedorov, Andriy / Song, Sang-Eun / Tokuda, Junichi / Fennessy, Fiona M / Vangel, Mark G / Kibel, Adam S / Mulkern, Robert V / Wells, William M / Hata, Nobuhiko / Tempany, Clare M C

Radiology

2014 Volume 274, Issue 1, Page(s) 170–180

Abstract: ... of prostate cancer ( PCa prostate cancer ) diagnosed with and the safety of an in-bore transperineal 3-T magnetic ... underwent multiparametric endorectal prostate MR imaging at 3 T and transperineal MR imaging-guided biopsy ... prostatectomy and/or contraindication to 3-T MR imaging. The transperineal MR imaging-guided biopsy was ...

Abstract	Purpose: To determine the detection rate, clinical relevance, Gleason grade, and location of prostate cancer ( PCa prostate cancer ) diagnosed with and the safety of an in-bore transperineal 3-T magnetic resonance (MR) imaging-guided prostate biopsy in a clinically heterogeneous patient population. Materials and methods: This prospective retrospectively analyzed study was HIPAA compliant and institutional review board approved, and informed consent was obtained. Eighty-seven men (mean age, 66.2 years ± 6.9) underwent multiparametric endorectal prostate MR imaging at 3 T and transperineal MR imaging-guided biopsy. Three subgroups of patients with at least one lesion suspicious for cancer were included: men with no prior PCa prostate cancer diagnosis, men with PCa prostate cancer who were undergoing active surveillance, and men with treated PCa prostate cancer and suspected recurrence. Exclusion criteria were prior prostatectomy and/or contraindication to 3-T MR imaging. The transperineal MR imaging-guided biopsy was performed in a 70-cm wide-bore 3-T device. Overall patient biopsy outcomes, cancer detection rates, Gleason grade, and location for each subgroup were evaluated and statistically compared by using χ(2) and one-way analysis of variance followed by Tukey honestly significant difference post hoc comparisons. Results: Ninety biopsy procedures were performed with no serious adverse events, with a mean of 3.7 targets sampled per gland. Cancer was detected in 51 (56.7%) men: 48.1% (25 of 52) with no prior PCa prostate cancer , 61.5% (eight of 13) under active surveillance, and 72.0% (18 of 25) in whom recurrence was suspected. Gleason pattern 4 or higher was diagnosed in 78.1% (25 of 32) in the no prior PCa prostate cancer and active surveillance groups. Gleason scores were not assigned in the suspected recurrence group. MR targets located in the anterior prostate had the highest cancer yield (40 of 64, 62.5%) compared with those for the other parts of the prostate (P < .001). Conclusion: In-bore 3-T transperineal MR imaging-guided biopsy, with a mean of 3.7 targets per gland, allowed detection of many clinically relevant cancers, many of which were located anteriorly.
MeSH term(s)	Aged ; Contrast Media ; Gadolinium DTPA ; Humans ; Image Interpretation, Computer-Assisted ; Image-Guided Biopsy ; Magnetic Resonance Imaging, Interventional/methods ; Male ; Middle Aged ; Perineum ; Prospective Studies ; Prostatic Neoplasms/pathology
Chemical Substances	Contrast Media ; Gadolinium DTPA (K2I13DR72L)
Language	English
Publishing date	2014-09-15
Publishing country	United States
Document type	Journal Article ; Observational Study
ZDB-ID	80324-8
ISSN	1527-1315 ; 0033-8419
ISSN (online)	1527-1315
ISSN	0033-8419
DOI	10.1148/radiol.14140221
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Article ; Online: Effect of the ratio of axial length to keratometry on SRK/T intraocular lens power calculations for eyes with long axial lengths

Yosai Mori / Keiichiro Minami / Shota Tokuda / Jinhee Lee / Kazunori Miyata

Scientific Reports, Vol 9, Iss 1, Pp 1-

2019 Volume 6

Abstract	Abstract This retrospective study explored the effect of the ratio of axial length (AL) to average keratometry (K) on intraocular lens power calculation in long eyes. The clinical records of eyes that had an AL of 26.0 mm or longer, and underwent cataract surgery with intraocular lens implantations, were reviewed. This study was approved by the institutional review board of Miyata Eye Hospital. Preoperative biometry data were obtained using optical low-coherence reflectometry. Prediction errors in the use of the SRK/T formulas were obtained from manifest refraction spherical equivalents one month postoperatively. Significant factors inducing prediction errors were examined using stepwise multiple regression analysis with descriptive factors of AL, K value, and their ratio (AL/K). Clinical records related to 49 long eyes of 49 patients, and 93 eyes of 93 patients with normal AL, were evaluated. Stepwise multiple regression analysis revealed that the AL/K was a significant factor increasing the prediction errors (P = 0.0003). With the regression equation, 98% of prediction errors with the use of the SRK/T formula were within ±1.00 D of differences. For our sample of 49 long eyes, the ratio of AL to K was a significant factor inducing hyperopic prediction errors with the use of SRK/T for long eyes.
Keywords	Medicine ; R ; Science ; Q
Language	English
Publishing date	2019-12-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: ETV6-LPXN fusion transcript generated by t(11;12)(q12.1;p13) in a patient with relapsing acute myeloid leukemia with NUP98-HOXA9.

Abe, Akihiro / Yamamoto, Yukiya / Iba, Sachiko / Kanie, Tadaharu / Okamoto, Akinao / Tokuda, Masutaka / Inaguma, Yoko / Yanada, Masamitsu / Morishima, Satoko / Mizuta, Shuichi / Akatsuka, Yoshiki / Okamoto, Masataka / Kameyama, Toshiki / Mayeda, Akila / Emi, Nobuhiko

Genes, chromosomes & cancer

2015 Volume 55, Issue 3, Page(s) 242–250

Abstract: ... We show here that a patient with acute myeloid leukemia with t(7;11)(p15;p15) gained, at the time ... of relapse, t(11;12)(q12.1;p13) with a split ETV6 FISH signal. Using 3'-RACE PCR analysis, we found that ETV6 ...

Abstract	ETV6, which encodes an ETS family transcription factor, is frequently rearranged in human leukemias. We show here that a patient with acute myeloid leukemia with t(7;11)(p15;p15) gained, at the time of relapse, t(11;12)(q12.1;p13) with a split ETV6 FISH signal. Using 3'-RACE PCR analysis, we found that ETV6 was fused to LPXN at 11q12.1, which encodes leupaxin. ETV6-LPXN, an in-frame fusion between exon 4 of ETV6 and exon 2 of LPXN, did not transform the interleukin-3-dependent 32D myeloid cell line to cytokine independence; however, an enhanced proliferative response was observed when these cells were treated with G-CSF without inhibition of granulocytic differentiation. The 32D and human leukemia cell lines each transduced with ETV6-LPXN showed enhanced migration towards the chemokine CXCL12. We show here for the first time that LPXN is a fusion partner of ETV6 and present evidence indicating that ETV6-LPXN plays a crucial role in leukemia progression through enhancing the response to G-CSF and CXCL12.
MeSH term(s)	Aged ; Amino Acid Sequence ; Base Sequence ; Cell Adhesion Molecules/genetics ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 12 ; Gene Fusion ; Homeodomain Proteins/genetics ; Humans ; Leukemia, Myeloid, Acute/genetics ; Male ; Nuclear Pore Complex Proteins/genetics ; Oncogene Proteins, Fusion/genetics ; Phosphoproteins/genetics ; Proto-Oncogene Proteins c-ets/genetics ; Repressor Proteins/genetics ; Translocation, Genetic ; ETS Translocation Variant 6 Protein
Chemical Substances	Cell Adhesion Molecules ; Homeodomain Proteins ; LPXN protein, human ; Nuclear Pore Complex Proteins ; Nup98 protein, human ; Oncogene Proteins, Fusion ; Phosphoproteins ; Proto-Oncogene Proteins c-ets ; Repressor Proteins ; homeobox protein HOXA9
Language	English
Publishing date	2015-11-06
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1018988-9
ISSN	1098-2264 ; 1045-2257
ISSN (online)	1098-2264
ISSN	1045-2257
DOI	10.1002/gcc.22327
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Article ; Online: Pulmonary T-cell lymphoma with pulmonary arterial hypertension.

Watanabe, Satoshi / Takato, Hazuki / Waseda, Yuko / Tokuda, Akira / Katayama, Nobuyuki / Kondo, Yukio / Fujimura, Masaki / Nakao, Shinji

Internal medicine (Tokyo, Japan)

2011 Volume 50, Issue 16, Page(s) 1733–1736

Abstract: ... A thoracoscopic lung biopsy was performed, and the specimen was diagnosed as peripheral T-cell lymphoma, not ...

Abstract	We report on a 73-year-old man with systemic lymphadenopathy and chest computed tomography (CT) findings of bilateral diffuse ground-glass opacities and interlobular septal thickening. He also had pulmonary arterial hypertension (PAH). Several lymph node biopsies were attempted, without a definitive diagnosis. A thoracoscopic lung biopsy was performed, and the specimen was diagnosed as peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS). Lymphoma cells had invaded lung vessels, resulting in PAH. We should include pulmonary lymphoma in the differential diagnosis of patients with PAH and chest CT findings of diffuse ground-glass opacities and interlobular septal thickening.
MeSH term(s)	Aged ; Diagnosis, Differential ; Familial Primary Pulmonary Hypertension ; Humans ; Hypertension, Pulmonary/complications ; Hypertension, Pulmonary/diagnosis ; Lung Neoplasms/complications ; Lung Neoplasms/diagnosis ; Lymphoma, T-Cell, Peripheral/complications ; Lymphoma, T-Cell, Peripheral/diagnosis ; Male
Language	English
Publishing date	2011-08-15
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.50.5329
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