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Article: A Japanese school urine screening program led to the diagnosis of

Hattori, Akito / Okuhara, Koji / Shimizu, Yasuhiro / Ohta, Tohru / Suzuki, Shigeru

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2023 Volume 33, Issue 1, Page(s) 12–16

Abstract: ... ...

Abstract	Although
Language	English
Publishing date	2023-10-04
Publishing country	Japan
Document type	Case Reports
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2023-0037
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Article: [Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].

Okuhara, Koji

Hokkaido igaku zasshi] The Hokkaido journal of medical science

2004 Volume 79, Issue 2, Page(s) 167–180

MeSH term(s)	Adolescent ; Adrenal Insufficiency/complications ; Adrenal Insufficiency/congenital ; Adrenal Insufficiency/genetics ; Adult ; Animals ; Cells, Cultured ; DAX-1 Orphan Nuclear Receptor ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/physiology ; Genetic Linkage ; Gonadotropins/deficiency ; Humans ; Hypogonadism/complications ; Hypogonadism/genetics ; Luteinizing Hormone, beta Subunit/genetics ; Male ; Mice ; Mutation ; Promoter Regions, Genetic ; Rats ; Receptors, Retinoic Acid/genetics ; Receptors, Retinoic Acid/physiology ; Repressor Proteins/genetics ; Repressor Proteins/physiology ; X Chromosome/genetics
Chemical Substances	DAX-1 Orphan Nuclear Receptor ; DNA-Binding Proteins ; Gonadotropins ; Luteinizing Hormone, beta Subunit ; NR0B1 protein, human ; Nr0b1 protein, mouse ; Nr0b1 protein, rat ; Receptors, Retinoic Acid ; Repressor Proteins
Language	Japanese
Publishing date	2004-03
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	603130-4
ISSN	0367-6102
ISSN	0367-6102
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Article: A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

Hishimura-Yonemaru, Nozomi / Okuhara, Koji / Takahashi, Nobuhiro / Tonoki, Hidefumi / Iizuka, Susumu / Tajima, Toshihiro

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2017 Volume 26, Issue 4, Page(s) 259–263

Abstract: Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a ... ...

Abstract	Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.
Language	English
Publishing date	2017-09-28
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.26.259
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Book ; Conference proceedings: Multidisciplinary social networks research

Chang, Weng-Long / June, Jason J / Lee, Chung-Hong / Okuhara, Koji / Yang, Hsin-Chang

international conference, MISNC 2014, Kaohsiung, Taiwan, September 13-14, 2014 ; proceedings

(Communications in computer and information science ; 473)

2014

Event/congress	MISNC (2014.09.13-14, Kaohsiung) ; Multidisciplinary International Social Networks Conference (2014.09.13-14, Kaohsiung)
Author's details	Leon Shyue-Liang ... (eds.)
Series title	Communications in computer and information science ; 473
Keywords	Datensicherung ; Data Mining ; Onlinecommunity ; Systemplattform ; Trusted Computing ; Datenqualität
Language	English
Size	XVI, 456 S., Ill., graph. Darst., 235 mm x 155 mm
Publisher	Springer
Publishing place	Berlin u.a.
Document type	Book ; Conference proceedings
Note	Literaturangaben
ISBN	3662450704 ; 9783662450703 ; 9783662450710 ; 3662450712
Database	Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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Book ; Conference proceedings ; Online: Multidisciplinary Social Networks Research

Wang, Leon Shyue-Liang / June, Jason J / Lee, Chung-Hong / Okuhara, Koji / Yang, Hsin-Chang

International Conference, MISNC 2014, Kaohsiung, Taiwan, September 13-14, 2014. Proceedings

(Communications in Computer and Information Science ; 473)

2014

Abstract: This book constitutes the refereed proceedings of the 2014 Multidisciplinary International Social Networks Research, MISNC 2014, held in Kaohsiung, Taiwan, in September 2014. The 37 full papers presented were carefully reviewed and selected from numerous ...

Author's details	edited by Leon Shyue-Liang Wang, Jason J. June, Chung-Hong Lee, Koji Okuhara, Hsin-Chang Yang
Series title	Communications in Computer and Information Science ; 473
Abstract	This book constitutes the refereed proceedings of the 2014 Multidisciplinary International Social Networks Research, MISNC 2014, held in Kaohsiung, Taiwan, in September 2014. The 37 full papers presented were carefully reviewed and selected from numerous submissions. The papers are organized in topical sections on electronic commerce, e-business management, and social networks; social networks issues on sociology, politics and statistics; information technology for social networks analysis and mining; social networks for global eHealth and bio-medics; security, open data, e-learning and other related topics; intelligent data analysis and its applications
Keywords	Computer science ; Data mining ; Information storage and retrieval systems ; Social sciences/Data processing
Language	English
Size	Online-Ressource (XVI, 456 p. 135 illus), online resource
Publisher	Springer Berlin Heidelberg
Publishing place	Berlin, Heidelberg ;s.l
Document type	Book ; Conference proceedings ; Online
ISBN	9783662450703 ; 9783662450710 ; 3662450704 ; 3662450712
DOI	10.1007/978-3-662-45071-0
Database	Former special subject collection: coastal and deep sea fishing

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Article: A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome.

Yamamoto, Sayaka / Okuhara, Koji / Tonoki, Hidefumi / Iizuka, Susumu / Nihei, Noriko / Tajima, Toshihiro

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2013 Volume 22, Issue 4, Page(s) 83–86

Abstract: Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. ... ...

Abstract	Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid hormone transporter 8 (MCT8). Here we describe a 26-year -old Japanese patient with AHDS who had deletion of exon 3 of SLC16A2.
Language	English
Publishing date	2013-10-26
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1292/cpe.22.83
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Article ; Online: Age-adjusted glycated albumin accurately reflects blood glucose in patients with neonatal diabetes mellitus: comparison with calculated glycated albumin determined by past blood glucose concentrations.

Suzuki, Shigeru / Furuya, Akiko / Oshima, Miho / Amamiya, Satoshi / Nakao, Atsushi / Wada, Keiko / Okuhara, Koji / Hayano, Satoshi / Imamoto, Aya / Matsuo, Kumihiro / Tanahashi, Yusuke / Azuma, Hiroshi / Koga, Masafumi

Annals of clinical biochemistry

2015 Volume 53, Issue Pt 1, Page(s) 117–123

Abstract: Background: Glycated albumin is a useful glycaemic control indicator for neonatal diabetes mellitus. However, glycated albumin concentrations in infants are lower than those in adults and increase in an age-dependent manner. Based on our investigation ... ...

Abstract	Background: Glycated albumin is a useful glycaemic control indicator for neonatal diabetes mellitus. However, glycated albumin concentrations in infants are lower than those in adults and increase in an age-dependent manner. Based on our investigation of non-diabetic subjects, we proposed the possibility that the reference range for adults may be used regardless of age, provided that age-adjusted glycated albumin is employed. In the present study, we evaluate the usefulness of age-adjusted glycated albumin in neonatal diabetes mellitus patients. Methods: Six neonatal diabetes mellitus patients (four patients with permanent neonatal diabetes mellitus and two patients with transient neonatal diabetes mellitus) were included. Measured glycated albumin or age-adjusted glycated albumin was compared to calculated glycated albumin, which was determined using calculation formulae we had reported based on past blood glucose over the 50 days before measurement of glycated albumin. Results: Measured glycated albumin was significantly lower than calculated glycated albumin (20.5 ± 4.9% versus 28.2 ± 6.1%; p < 0.0001), whereas age-adjusted glycated albumin was equivalent to calculated glycated albumin, showing no significant difference (27.5 ± 6.8% versus 28.2 ± 6.1%). Measured glycated albumin concentrations in patients with transient neonatal diabetes mellitus in remission were lower than the reference range for adults, whereas age-adjusted glycated albumin concentrations were within the reference range for adults. Conclusion: We demonstrated that age-adjusted glycated albumin concentrations were consistent with calculated glycated albumin. Age-adjusted glycated albumin is therefore a useful glycaemic control indicator for neonatal diabetes mellitus patients.
MeSH term(s)	Adult ; Aging/blood ; Blood Chemical Analysis/methods ; Blood Glucose/analysis ; Diabetes Mellitus/blood ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Serum Albumin/analysis
Chemical Substances	Blood Glucose ; Serum Albumin ; glycated serum albumin
Language	English
Publishing date	2015-05-14
Publishing country	England
Document type	Comparative Study ; Journal Article
ZDB-ID	390309-6
ISSN	1758-1001 ; 0004-5632
ISSN (online)	1758-1001
ISSN	0004-5632
DOI	10.1177/0004563215589382
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Article: A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

Tajima, Toshihiro / Hattori, Tsukasa / Nakajima, Takeo / Okuhara, Koji / Tsubaki, Junko / Fujieda, Kenji

Endocrine journal

2007 Volume 54, Issue 4, Page(s) 637–641

Abstract: LIM homeodomain transcription factors regulate many aspects of development in multicellular organisms. LHX4/Lhx4 is a protein that is essential for pituitary development and motor neuron specification in mammals. In human, a heterozygous splicing ... ...

Abstract	LIM homeodomain transcription factors regulate many aspects of development in multicellular organisms. LHX4/Lhx4 is a protein that is essential for pituitary development and motor neuron specification in mammals. In human, a heterozygous splicing mutation of the LHX4 gene was reported in a family with combined pituitary hormone deficiencies (CPHD). In addition to CPHD, these patients were characterized by small sella turcica and chiari malformation. Here we report a Japanese patient with CPHD (GH, PRL, TSH, LH, FSH, and ACTH deficiency) due to a novel missense mutation (P366T) of the LHX 4 gene. She showed severe respiratory disease and hypoglycemia soon after birth. Brain MRI demonstrated hypoplastic anterior pituitary, ectopic posterior lobe, a poorly developed sella turcica, and chiari malformation. Sequence analysis of the LHX 4 gene identified a heterozygous missense mutation (P366T) in exon 6, which was present in LIM4 specific domain. Neither of the patient's parents harbored this mutation, indicating de novo mutation.
MeSH term(s)	Female ; Homeodomain Proteins/genetics ; Humans ; Hypopituitarism/congenital ; Hypopituitarism/genetics ; Hypopituitarism/pathology ; Infant ; LIM-Homeodomain Proteins ; Magnetic Resonance Imaging ; Mutation, Missense ; Occipital Lobe/abnormalities ; Occipital Lobe/pathology ; Pituitary Gland, Anterior/abnormalities ; Pituitary Gland, Anterior/pathology ; Pituitary Hormones/deficiency ; Sella Turcica/abnormalities ; Sella Turcica/pathology ; Severity of Illness Index ; Transcription Factors/genetics
Chemical Substances	Homeodomain Proteins ; LHX4 protein, human ; LIM-Homeodomain Proteins ; Pituitary Hormones ; Transcription Factors
Language	English
Publishing date	2007-05-25
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	1151918-6
ISSN	0918-8959
ISSN	0918-8959
DOI	10.1507/endocrj.k06-200
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Article ; Online: HbA1c can be a useful glycemic control marker for patients with neonatal diabetes mellitus older than 20 weeks of age.

Furuya, Akiko / Suzuki, Shigeru / Koga, Masafumi / Oshima, Miho / Amamiya, Satoshi / Nakao, Atsushi / Wada, Keiko / Okuhara, Koji / Hayano, Satoshi / Matsuo, Kumihiro / Tanahashi, Yusuke / Azuma, Hiroshi

Clinica chimica acta; international journal of clinical chemistry

2014 Volume 436, Page(s) 93–96

Abstract: Background: The accuracy of most HbA1c analysis methods is affected by the presence of increased fetal hemoglobin (HbF). The objective of this study was to investigate the age at which HbA1c measurements become useful for monitoring glycemic control in ... ...

Abstract	Background: The accuracy of most HbA1c analysis methods is affected by the presence of increased fetal hemoglobin (HbF). The objective of this study was to investigate the age at which HbA1c measurements become useful for monitoring glycemic control in patients with neonatal diabetes mellitus (NDM). Methods: We retrospectively analyzed the data of 5 NDM patients diagnosed at 38±20 days of age, who each had several available HbA1c measurements during the first year of life, with a control group of HbA1c values over the course of 1 year for 13 patients with type 1 diabetes mellitus (T1DM). Mean blood glucose (MBG) levels derived from premeal or premeal plus bedtime blood glucose measurements prior to HbA1c measurements were compared to HbA1c values. Results: The NDM patients' age at which the difference in the HbA1c/MBG ratios became not significant between the NDM patients and the T1DM patients was 21 weeks of age and over. Even after the HbA1c was adjusted for HbF, this ratio was significantly lower in the NDM patients at <21 weeks of age than in the T1DM patients. Conclusions: HbA1c can be a useful glycemic control marker for NDM patients >20 weeks of age.
MeSH term(s)	Adolescent ; Biomarkers/blood ; Blood Glucose/metabolism ; Diabetes Mellitus, Type 1/blood ; Diabetes Mellitus, Type 1/drug therapy ; Female ; Glycated Hemoglobin A/analysis ; Humans ; Infant ; Infant, Newborn ; Insulin/therapeutic use ; Male ; Retrospective Studies
Chemical Substances	Biomarkers ; Blood Glucose ; Glycated Hemoglobin A ; Insulin
Language	English
Publishing date	2014-09-25
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80228-1
ISSN	1873-3492 ; 0009-8981
ISSN (online)	1873-3492
ISSN	0009-8981
DOI	10.1016/j.cca.2014.05.005
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics.

Fujiwara, Fumie / Fujikura, Kaori / Okuhara, Koji / Tsubaki, Jyunko / Fukushi, Masaru / Fujita, Kozo / Fujieda, Kenji / Tajima, Toshihiro

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

2008 Volume 17, Issue 3, Page(s) 65–69

Abstract: In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the ... ...

Abstract	In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the neonatal period. The aim of this study was to clarify the prevalence and clinical characteristics of central CH. For this purpose, the screening program requested serum from infants with free T4 concentrations below the cut off value regardless of the TSH levels. Between January 2000 and December 2004, 83,232 newborns were screened and six central CH patients were detected as a result of follow-up of low free T4 and non-elevated TSH screening (1:13,872). This frequency is higher than in other studies. Four patients showed multiple pituitary hormone deficiency with pituitary malformations on magnetic resonance imaging. One patient was diagnosed as having Prader-Willie syndrome. The remaining patient was considered to have isolated central CH. Our study demonstrated that the frequency of central CH is 1:13,872. Free T4 measurement would also be advantageous in early recognition of multiple pituitary hormone deficiency.
Language	English
Publishing date	2008-08-08
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.17.65
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