LIVIVO - Search results -

Search results

Result 1 - 10 of total 17

Search options

Article ; Online: A Pitfall of Adrenal Hypoplasia Congenita.

Abe, Jiro / Tsubaki, Junko / Shimura, Kazuhiro / Hasegawa, Tomonobu

2024 , Page(s) 99228231222714

Language	English
Publishing date	2024-01-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	207678-0
ISSN	1938-2707 ; 0009-9228
ISSN (online)	1938-2707
ISSN	0009-9228
DOI	10.1177/00099228231222714
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 454: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article: Utility of basal and peak TSH values in TRH stimulation testing for predicting the long-term therapeutic prognosis of primary congenital hypothyroidism.

Shimura, Kazuhiro / Ikegawa, Kento / Hasegawa, Yukihiro

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

2023 Volume 32, Issue 4, Page(s) 200–205

Abstract: In Japan, most neonates undergo screening for congenital hypothyroidism (CH). A TRH stimulation test (TRH-T) may be performed after initial treatment as a useful method for reevaluating the patient's thyroid status. However, no studies have compared ... ...

Abstract	In Japan, most neonates undergo screening for congenital hypothyroidism (CH). A TRH stimulation test (TRH-T) may be performed after initial treatment as a useful method for reevaluating the patient's thyroid status. However, no studies have compared basal and peak TSH values in TRH-T in patients with long-term follow-up. This was a retrospective and observational study. The inclusion criteria were as follows: (1) CH diagnosis based on positive newborn screening, (2) follow-up > 15 yr, and (3) TRH-T after LT4 discontinuation. The participants were divided into a no-treatment group (No-T group) and a treatment group (T group). The No-T and T groups included 14 and nine patients, respectively. The age at TRH-T was 5.38 yr for the No-T group and 4.25 yr for the T group, with no significant difference. The basal and peak TSH levels were significantly lower in the No-T group. The areas under the Receiver operating characteristic curve for basal and peak TSH values were 0.984 and 0.905, respectively. When the basal TSH level was under 4.594 IU/mL, the No-T group had a sensitivity of 1.00 and a specificity of 0.93. Basal TSH levels alone may be sufficient for predicting the long-term therapeutic prognosis of patients with CH.
Language	English
Publishing date	2023-06-23
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2023-0020
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5710: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Two Japanese Infants With Hypothyroidism Following Exposure to Iodinated Contrast Media.

Shimura, Kazuhiro / Shibata, Hironori / Hasegawa, Tomonobu / Ishii, Tomohiro

JCEM case reports

2023 Volume 1, Issue 2, Page(s) luad010

Abstract: We report 2 Japanese infants with hypothyroidism requiring levothyroxine (LT4) replacement therapy following exposure to iodinated contrast media (ICM). Patient 1 was born at 32 weeks gestation. He had congenital heart disease and underwent contrast- ... ...

Abstract	We report 2 Japanese infants with hypothyroidism requiring levothyroxine (LT4) replacement therapy following exposure to iodinated contrast media (ICM). Patient 1 was born at 32 weeks gestation. He had congenital heart disease and underwent contrast-enhanced computed tomography (CT) on day 22 (estimated amount of iodine: 600 mg/kg/dose). The newborn mass screening showed normal thyrotropin (thyroid-stimulating hormone; TSH) levels at day 4, but high TSH and low free thyroxine levels on retest at day 44. LT4 replacement therapy was administered on days 46 to 74. No hypothyroidism requiring LT4 replacement therapy was observed afterward. The ultrasonography showed a hypoplastic thyroid gland. Patient 2 was born full-term. She had congenital heart disease and underwent contrast-enhanced CT on day 52 (estimated amount of iodine: 1500 mg/kg/dose). The newborn mass screening showed normal TSH levels on day 4, but high TSH levels on retest on day 62. LT4 replacement therapy was administered from day 65 to 3 years of age. Genetic analysis showed a heterozygous variant of
Language	English
Publishing date	2023-02-17
Publishing country	England
Document type	Case Reports
ISSN	2755-1520
ISSN (online)	2755-1520
DOI	10.1210/jcemcr/luad010
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article: Higher serum thyroid autoantibody value is a risk factor of hypothyroidism in children and young adults with chronic thyroiditis.

Shimura, Kazuhiro / Yoshizaki, Kanako / Hasegawa, Yukihiro

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

2022 Volume 31, Issue 3, Page(s) 152–158

Abstract: Thyroid function in patients with chronic thyroiditis (CT) varies depending on the clinical course. Serum antithyroglobulin antibody (TgAb) and antithyroid peroxidase antibody (TPOAb) levels may be used to predict hypothyroidism in CT. In this ... ...

Abstract	Thyroid function in patients with chronic thyroiditis (CT) varies depending on the clinical course. Serum antithyroglobulin antibody (TgAb) and antithyroid peroxidase antibody (TPOAb) levels may be used to predict hypothyroidism in CT. In this retrospective cohort study, patients with CT, defined as having a high TgAb or TPOAb value, were divided into a hypothyroid group (HG) and euthyroid group (EG), after a mean follow-up of 2.5 years. The definitions of the two groups was based on the maximum TSH value from the initial measurement to the most recent follow-up: HG was defined as TSH 10.0 μIU/mL or higher, and EG was defined as TSH < 10.0 μIU/mL. There were 20 and 113 patients in the HG and EG, respectively. There were no significant differences in age, sex, underlying diseases, or TgAb and TPOAb levels between the groups. Receiver operating characteristic curve analyses of TgAb and TPOAb values for predicting thyroid function showed areas under the curve of 0.714 and 0.757, respectively. The value with the highest diagnostic accuracy was 106 IU/mL for TgAb and 16 IU/mL for TPOAb. Thus, TgAb > 106 IU/mL and TPOAb > 16 IU/mL may predict hypothyroidism in children and young adults with CT.
Language	English
Publishing date	2022-05-29
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2022-0002
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5710: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: One microliter of blood for SRY testing in a neonate with atypical genitalia.

Mizuno, Yasuaki / Sato, Takeshi / Shimura, Kazuhiro / Ishii, Tomohiro / Hasegawa, Tomonobu

Pediatrics international : official journal of the Japan Pediatric Society

2022 Volume 64, Issue 1, Page(s) e15345

MeSH term(s)	Disorders of Sex Development/diagnosis ; Disorders of Sex Development/genetics ; Genitalia ; Humans ; Infant, Newborn
Language	English
Publishing date	2022-09-26
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.15345
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 848: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives.

Shimura, Kazuhiro / Ichihashi, Yosuke / Nakano, Satsuki / Sato, Takeshi / Hamajima, Takashi / Numasawa, Keita / Narumi, Satoshi / Hasegawa, Tomonobu / Ishii, Tomohiro

Hormone research in paediatrics

2024

Abstract: Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often ... ...

Abstract	Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often overlaps with that of partial gonadal dysgenesis (PGD). Previous studies have demonstrated a causal association between TRS/PGD and heterozygous missense variants of DHX37. Methods: We enrolled 11 Japanese 46,XY individuals (from 10 families) with TRS/PGD who exhibited undetected or hypoplastic testes, Müllerian duct regression, and low serum testosterone or anti-Müllerian hormone levels. The subjects underwent targeted sequencing of 36 known causative genes for DSD, PCR-based Sanger sequencing of DHX37, or whole exome sequencing. Results: Previously described pathogenic variants or novel nonsense variants (SRY, NR5A1, and DMRT1) were observed in four out of 10 families. Additionally, we identified two heterozygous rare variants of DHX37 in four families: a previously reported pathogenic variant (c.923G>A, p.Arg308Gln) in three and a novel likely pathogenic variant (c.1882A>C, p.Thr628Pro) in one. The external genitalia of patients with the DHX37 variants varied from female-type to male-type without micropenis. Eighty percent of Japanese patients with TRS/PGD had monogenic disorders including DHX37 variant being the most commonly identified (40%). The external or internal genital phenotype of TRS/PGD overlaps between DHX37 variant carriers and others. Conclusions: DHX37 variant is one of common genetic causes in Japanese patients with TRS/PGD without Müllerian derivatives. Genetic test is helpful in detecting DHX37-related TRS/PGD, because of the phenotypic diversity of the external genitalia in this disorder.
Language	English
Publishing date	2024-02-15
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000537761
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 414: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.

Ogawa, Eri / Shimura, Kazuhiro / Yoshihashi, Hiroshi / Miyama, Sahoko

Pediatric neurology

2021 Volume 130, Page(s) 4–6

Abstract: Background: Hypophosphatasia (HPP), an inherited, metabolic disorder caused by loss-of-function mutations in the ALPL gene, affects not only bone and tooth mineralization but also central nervous system (CNS) function, resulting in vitamin B6/pyridoxine- ...

Abstract	Background: Hypophosphatasia (HPP), an inherited, metabolic disorder caused by loss-of-function mutations in the ALPL gene, affects not only bone and tooth mineralization but also central nervous system (CNS) function, resulting in vitamin B6/pyridoxine-responsive seizures. Asfotase alfa treatment mainly improves the skeletal manifestations of HPP. As of yet, there are no reports demonstrating seizure exacerbation caused by asfotase alfa interruption. Case: The patient was a 2-year and 8-month-old female with clinical and genetic diagnosis of perinatal severe HPP. Genetic analysis of ALPL identified compound heterozygous variants. Asfotase alfa and pyridoxine administration begun on postnatal day 2 restored normal development and suppressed seizures except for simple febrile seizures. From age 2 years when her asfotase alfa injections became irregular, she began experiencing seizure exacerbation, including status epilepticus, leading to acute encephalopathy and severe sequelae. The seizure exacerbations always coincided with low alkaline phosphatase (ALP) activity caused by the interruption of asfotase alfa administration. Discussion: The clinical course of the present case demonstrated the effect of asfotase alfa on CNS symptoms and a clear correlation between low serum ALP activity and seizure exacerbation. Serum ALP activity measurements were useful as a therapeutic marker in the present case. Furthermore, the risk of seizure exacerbation in the patient could have been predicted, given the genotype-phenotype correlation related to the ALPL gene in the Japanese population. Conclusion: Regular asfotase alfa injections are needed to prevent seizure exacerbation in patients with HPP. Educating patients and their family about the need for regular asfotase alfa treatment is crucial to preventing disease exacerbation.
MeSH term(s)	Alkaline Phosphatase/genetics ; Alkaline Phosphatase/therapeutic use ; Enzyme Replacement Therapy/adverse effects ; Female ; Humans ; Hypophosphatasia/complications ; Hypophosphatasia/drug therapy ; Immunoglobulin G ; Pyridoxine/therapeutic use ; Recombinant Fusion Proteins ; Status Epilepticus/complications ; Status Epilepticus/etiology
Chemical Substances	Immunoglobulin G ; Recombinant Fusion Proteins ; Alkaline Phosphatase (EC 3.1.3.1) ; Pyridoxine (KV2JZ1BI6Z) ; asfotase alfa (Z633861EIM)
Language	English
Publishing date	2021-12-28
Publishing country	United States
Document type	Case Reports
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2021.12.009
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2260: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Knowns and unknowns about congenital hypothyroidism: 2022 update.

Itonaga, Tomoyo / Hasegawa, Yukihiro / Higuchi, Shinji / Satoh, Mari / Sawada, Hirotake / Shimura, Kazuhiro / Takahashi, Ikuko / Takubo, Noriyuki / Nagasaki, Keisuke

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

2022 Volume 32, Issue 1, Page(s) 11–25

Abstract: Several excellent guidelines and expert opinions on congenital hypothyroidism (CH) are currently available. Nonetheless, these guidelines do not address several issues related to CH in detail. In this review, the authors chose the following seven ... ...

Abstract	Several excellent guidelines and expert opinions on congenital hypothyroidism (CH) are currently available. Nonetheless, these guidelines do not address several issues related to CH in detail. In this review, the authors chose the following seven clinical issues that they felt were especially deserving of closer scrutiny in the hope that drawing attention to them through discussion would help pediatric endocrinologists and promote further interest in the treatment of CH. 1. How high should the levothyroxine (L-T4) dose be for initial treatment of severe and permanent CH? 2. What is the optimal method for monitoring treatment of severe CH? 3. At what level does maternal iodine intake during pregnancy affect fetal and neonatal thyroid function? 4. Does serum thyroglobulin differ between patients with a dual oxidase 2 (
Language	English
Publishing date	2022-11-18
Publishing country	Japan
Document type	Journal Article ; Review
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2022-0016
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5710: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: A case of 46,XY complete gonadal dysgenesis with a novel missense variant in

Narita, Chisato / Takubo, Noriyuki / Sammori, Manami / Matsumura, Yuko / Shimura, Kazuhiro / Ozaki, Rie / Haruna, Hidenori / Narumi, Satoshi / Ishii, Tomohiro / Hasegawa, Tomonobu / Shimizu, Toshiaki

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

2023 Volume 32, Issue 4, Page(s) 235–238

Abstract: Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y ( ...

Abstract	Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y (
Language	English
Publishing date	2023-09-08
Publishing country	Japan
Document type	Case Reports
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.2023-0032
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5710: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Treatment of adrenal crisis in patients with primary hypoadrenalism can lead to hypertension.

Nagamatsu, Fusa / Satoh, Satoko / Ogiwara, Yasuko / Shimura, Kazuhiro / Shimada, Aya / Hachiya, Rumi / Hasegawa, Yukihiro

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

2019 Volume 28, Issue 2, Page(s) 25–30

Abstract: Hypertension is one of the most serious side effects of glucocorticoid therapy. We retrospectively investigated the frequency of hypertension during treatment of adrenal crisis and analyzed the factors associated with its development. Patients who were ... ...

Abstract	Hypertension is one of the most serious side effects of glucocorticoid therapy. We retrospectively investigated the frequency of hypertension during treatment of adrenal crisis and analyzed the factors associated with its development. Patients who were admitted for primary hypoadrenalism due to diagnosed or suspected adrenal crisis were included. In the analysis, the subjects were divided into two groups: the hypertensive group (group H) and non-hypertensive group (group Non-H). The primary endpoint was the difference in the hourly therapeutic hydrocortisone (HDC) dosage between the two groups. The hourly therapeutic HDC dose in the two groups was defined as the hourly HDC dose from the start of HDC infusion until the development of hypertension in group H or until the last blood pressure measurement in group Non-H. Nine of 19 crises led to hypertension. There was no significant difference in the therapeutic HDC dosage between the groups (p = 0.108). In conclusion, hypertension developed in some patients during treatment for adrenal crisis. There was no significant difference in the therapeutic HDC dosage between groups H and Non-H.
Language	English
Publishing date	2019-04-24
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2079760-6
ISSN	0918-5739
ISSN	0918-5739
DOI	10.1297/cpe.28.25
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5710: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito