95 results on '"Shinobu, Ida"'
Search Results
2. Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency
- Author
-
Tamaki Wada, Satsuki Nishigaki, Ayaha Hata, Takatoshi Maeyama, Shinobu Ida, Yuri Etani, and Masanobu Kawai
- Subjects
Endocrinology ,Endocrinology, Diabetes and Metabolism - Abstract
Obesity is a major complication in children with 21-hydroxylase deficiency (21-OHD). There is evidence to show that higher body mass index (BMI) during infancy and early childhood is associated with an increased risk for the subsequent development of obesity in the general population; however, limited information is currently available on this issue in 21-OHD patients. Additionally, despite the frequent use of supraphysiological dosages of hydrocortisone in 21-OHD, the association between BMI and hydrocortisone dosage during these periods remains largely unclear; therefore, we retrospectively investigated BMI at approximately 1 and 3 years old and its association with hydrocortisone dosage in 56 children with 21-OHD. The median BMI-standard deviation score (SDS) was 0.28 (Interquartile range [IQR]: -0.53 to 1.09) and 0.39 (IQR: -0.44 to 1.14) at approximately 1 and 3 years old, respectively, and no association was observed between hydrocortisone dosage and BMI-SDS at either time-point; however, multivariate analysis revealed that hydrocortisone dosage at approximately 1 year old was positively associated with changes in BMI (β = 0.57, p = 0.013) and BMI-SDS (β = 0.59, p = 0.011) between approximately 1 and 3 years old after adjustment for age, sex, and changes in hydrocortisone dosage during the same period. The average dosage of hydrocortisone between approximately 6 months and 1 year old also showed similar results. These results indicate that a higher dosage of hydrocortisone during late infancy is associated with a higher BMI at approximately 3 years old, which may lead to the development of obesity later in life in children with 21-OHD.
- Published
- 2023
3. Very young children with Prader-Willi syndrome are refractory to growth hormone-associated decreases in free thyroxine levels
- Author
-
Ayako Konishi, Mikiko Koizumi, Yuri Etani, Shinobu Ida, and Masanobu Kawai
- Subjects
Endocrinology ,Endocrinology, Diabetes and Metabolism - Published
- 2023
4. Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study
- Author
-
Tomokazu Kimizu, Shinobu Ida, Keisuke Oki, Morimasa Shima, Shizuka Nishimoto, Ken Nakajima, Tae Ikeda, Yukiko Mogami, Keiko Yanagihara, Keiko Matsuda, Eriko Nishi, Yuiko Hasegawa, Masatoshi Nozaki, Hiroshi Fujita, Akemi Irie, Toru Katayama, Nobuhiko Okamoto, Kohsuke Imai, Hisahide Nishio, and Yasuhiro Suzuki
- Subjects
Developmental Neuroscience ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,General Medicine - Published
- 2023
5. Evaluations for Wilms tumor and late‐onset nephrotic syndrome in 46, <scp>XY DSD</scp>
- Author
-
Mikiko Koizumi, Shinobu Ida, Yuri Etani, and Masanobu Kawai
- Subjects
Pediatrics, Perinatology and Child Health - Published
- 2023
6. Subcutaneous adipose tissue is a positive predictor for bone mineral density in prepubertal children with Prader–Willi syndrome independent of lean mass
- Author
-
Masanobu Kawai, Yuri Etani, and Shinobu Ida
- Subjects
Male ,Endocrinology, Diabetes and Metabolism ,Subcutaneous Fat ,Absorptiometry, Photon ,Cross-Sectional Studies ,Endocrinology ,Adipose Tissue ,Diabetes Mellitus, Type 2 ,Bone Density ,Pediatrics, Perinatology and Child Health ,Body Composition ,Humans ,Female ,Child ,Prader-Willi Syndrome ,Retrospective Studies - Abstract
Objectives Emerging evidence suggests a fat depot-specific relationship with bone mineral density (BMD) in children, particularly in those who are overweight/obese. However, this has not yet been investigated in detail in children with Prader–Willi syndrome (PWS), a genetic syndrome characterized by a decreased lean mass (LM) and increased fat mass (FM). The objective of this study is to investigate the relationships of LM and FM, particularly fat distribution, with bone mineral parameters. Methods This is a retrospective and cross-sectional study. Forty-seven prepubertal Japanese children with PWS (22 males, mean age: 6.86 years) were included. No subjects had type 2 diabetes mellitus or osteoporotic medications. LM, FM, and BMD and bone mineral content in the total body less head and the lumbar spine were measured using dual-energy x-ray absorptiometry, in addition to subcutaneous/visceral adipose tissue (SAT/VAT), and the ratio of VAT to SAT (V/S) by computed tomography at the umbilical level. Bone mineral apparent density was calculated to correct for bone size. Results LM positively correlated with bone mineral parameters after controlling for age, sex, growth hormone (GH) treatment, and FM. Although FM did not correlate with bone mineral parameters, compartment-specific analysis revealed that SAT positively and V/S negatively correlated with bone mineral parameters after controlling for age, sex, GH treatment and LM. Conclusions A compartment-specific effect of FM on bone mineral parameters was noted such that SAT was a positive predictor for BMD independent of LM in prepubertal children with PWS.
- Published
- 2022
7. Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists
- Author
-
Akari Nakamura-Utsunomiya, Yukihiro Hasegawa, Kei Takasawa, Tomohiro Ishii, Tomonobu Hasegawa, Toshihiro Tajima, Naoko Amano, and Shinobu Ida
- Subjects
Adult ,Male ,Genital reconstructive surgery ,Gender dysphoria ,Infertility ,Pediatrics ,medicine.medical_specialty ,Adrenal Hyperplasia, Congenital ,Menstrual disorder ,Pediatric endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,medicine.disease ,Obesity ,Cross-Sectional Studies ,Endocrinologists ,Endocrinology ,Japan ,medicine ,Humans ,Female ,Congenital adrenal hyperplasia ,Child ,business - Abstract
To manage of 21-hydroxylase deficiency (21-OHD), transition medicine from pediatric to adult health care is an important process and requires individually optimized approaches. We sent cross-sectional questionnaire surveys on the current status of transition from pediatric to adult health care in 21-OHD patients to all councillors of the Japanese Society for Pediatric Endocrinology. Many pediatric departments (42.2%) experienced adult 21-OHD patients, and 115 patients (53 males, mean age of 26) in 46 institutions were identified. Whereas almost two-thirds of pediatric endocrinologists regarded the problems of counterparts and cooperation as hindrance of transition medicine, the major reason for continuing to be treated in pediatrics was the patient's own request. The prevalence of long-term complications including obesity, osteoporosis, infertility, menstrual disorder, gender dysphoria, and testicular adrenal rest tumor were 27.5%, 8.8%, 11.1%, 26.3%, 7.1%, 12.5%, respectively, which is comparable to those of other cohorts previously reported. However, several items, especially infertility and osteoporosis were not checked well enough in adult 21-OHD patients treated in pediatrics. Though 44 of 62 female patients had genital reconstructive surgery, more than half of them were not followed up by gynecologists or pediatric urologists. Quite a few adult 21-OHD patients had been followed up in pediatrics even after coming of age; however, surveillance by pediatric endocrinologists of gynecological, reproductive, and mental problems may be insufficient. Therefore, multidisciplinary approaches should be required in transition medicine for 21-OHD and prerequisite for graduation of pediatrics. Pediatric endocrinologists will need to play a leading role in the development of transition systems.
- Published
- 2022
8. Renal function in short‐statured children born small for gestational age and treated with growth hormone
- Author
-
Yuri Etani, Yasuko Shoji, Shinobu Ida, Masanobu Kawai, and Mikiko Koizumi
- Subjects
Pediatrics ,medicine.medical_specialty ,Renal function ,Gestational Age ,030204 cardiovascular system & hematology ,Kidney ,Growth hormone ,Short stature ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,030225 pediatrics ,Humans ,Medicine ,Child ,reproductive and urinary physiology ,Rank correlation ,Creatinine ,Human Growth Hormone ,business.industry ,Infant, Newborn ,Anthropometry ,medicine.disease ,Body Height ,chemistry ,Growth Hormone ,Infant, Small for Gestational Age ,Pediatrics, Perinatology and Child Health ,Gestation ,Small for gestational age ,medicine.symptom ,business - Abstract
BACKGROUND Children born small for gestational age (SGA), particularly when associated with an extremely low birthweight (ELBW), have a higher risk of renal dysfunction. Growth hormone (GH) treatment is used to treat short-statured children born SGA; however, its effects on renal function remain elusive, especially in those born SGA with ELBW. METHODS Short-statured children born SGA (N = 42) were included. Subjects were subdivided into two groups based on their birthweight: the ELBW group (N = 15) with a birthweight of
- Published
- 2021
9. Growth hormone treatment for extremely low birthweight children born small for gestational age
- Author
-
Masanobu Kawai, Takatoshi Maeyama, Yasuko Shoji, Yuri Etani, Shinobu Ida, and Shinsuke Onuma
- Subjects
medicine.medical_specialty ,Birth weight ,Gestational Age ,030204 cardiovascular system & hematology ,Growth hormone ,Short stature ,03 medical and health sciences ,Child Development ,0302 clinical medicine ,Japan ,030225 pediatrics ,Internal medicine ,Birth Weight ,Humans ,Medicine ,Human Growth Hormone ,business.industry ,Infant, Newborn ,Infant ,medicine.disease ,Body Height ,Growth hormone treatment ,Low birth weight ,Endocrinology ,Child, Preschool ,Infant, Small for Gestational Age ,Pediatrics, Perinatology and Child Health ,Gh treatment ,Small for gestational age ,medicine.symptom ,business - Abstract
The effectiveness of growth hormone (GH) treatment for height gain in short-stature children born small for gestational age (SGA) with extremely low birthweight (ELBW; birthweight1,000 g) remains largely unknown.In study 1, 35 prepubertal Japanese children born SGA with ELBW were categorized into three groups based on the presence or absence of catch-up growth by age 3 (CU(+) and CU(-), respectively) and GH treatment (GH(+) and GH(-), respectively). Height standard deviation (SD) scores (HT-SDS) in the CU-/GH+ group (n = 19) were compared with those in the age-matched CU+/GH- (n = 9) and CU-/GH- groups (n = 7). In study 2, 66 prepubertal Japanese SGA children treated with GH were divided into three groups by birthweight:1,000 g (n = 19), 1,000-2,000 g (n = 20), and2,000 g (n = 27). Changes in HT-SDS during the initial 3 years of GH treatment were compared among the three groups.In study 1, the mean HT-SDS in the CU-/GH+ group (-1.15 SD) was similar to that in the CU+/GH- group (-1.39 SD) but higher than that in the CU-/GH- group (-2.24 SD). In study 2, GH achieved a height gain of +1.62 SD in the ELBW group, which was similar to that in the other groups (1,000-2,000 g: +1.46 SD,2,000 g: +1.53 SD).Growth hormone treatment in short-stature children born SGA with ELBW increased HT-SDS, which was similar to that in SGA children born with a birthweight ≥1,000 g. These results indicate that GH treatment may be an effective approach to promote adequate growth recovery for short-stature children born SGA with ELBW.
- Published
- 2021
10. Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature
- Author
-
Tamaki Wada, Chihiro Ichikawa, Makoto Takeuchi, Futoshi Matsui, Fumi Matsumoto, Shinobu Ida, Yuri Etani, and Masanobu Kawai
- Subjects
Endocrinology ,Endocrinology, Diabetes and Metabolism ,Pediatrics, Perinatology and Child Health - Abstract
As evidenced by the intact histology of the testes during infancy, testicular differentiation during the prenatal period occurs normally in individuals with 5 alpha-reductase type 2 deficiency (5αRD); however, a majority of these individuals suffer from azoospermia or oligospermia during adulthood, indicating that impaired spermatogenesis occurs postnatally. Although the accompanying cryptorchidism may be partly responsible for this process, the underlying mechanisms remain largely unknown. To address this issue, we retrospectively compared the histological findings of descended testes in a 3-mo-old patient and undescended testes in an 18-yr-old patient with 5αRD. In the latter, testicular histology was compared to that of cryptorchid testes obtained from five adolescent patients without endocrinological abnormalities. Histological findings of a 3-mo-old patient revealed normal number of germ cells with intact seminiferous tubules. In contrast, an 18-yr-old patient showed marked reduction in germ cell number and atrophic seminiferous tubules. The findings were very similar to those observed in cryptorchid testes without endocrinological abnormalities. These findings suggest that the decrease in germ cells in 5αRD patients may be at least partly caused by accompanying cryptorchidism. As the number of germ cells did not decrease during the infantile period, early orchiopexy is recommended to prevent a decrease in germ cell number and preserve fertility.
- Published
- 2022
11. Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
- Author
-
Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, and Toshihiro Tajima
- Subjects
Endocrinology ,Endocrinology, Diabetes and Metabolism ,Pediatrics, Perinatology and Child Health - Abstract
Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of
- Published
- 2022
12. Visceral adipose tissue resides within the reference range in children with Prader-Willi syndrome receiving nutritional intervention on a regular basis
- Author
-
Masanobu Kawai, Yuri Etani, Yasuko Shoji, Shinobu Ida, Mikiko Koizumi, and Yukiko Nishimoto
- Subjects
Male ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Subcutaneous Fat ,Physiology ,Adipose tissue ,030209 endocrinology & metabolism ,Reference range ,Intra-Abdominal Fat ,Body weight ,Growth hormone ,Body Mass Index ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Intervention (counseling) ,Body Fat Distribution ,Humans ,Medicine ,Obesity ,Child ,Caloric Restriction ,Human Growth Hormone ,business.industry ,Infant ,nutritional and metabolic diseases ,Child, Preschool ,030220 oncology & carcinogenesis ,Reference values ,Female ,Linear growth ,business ,Prader-Willi Syndrome ,Body mass index ,Diet Therapy - Abstract
Nutritional intervention for maintaining an appropriate body composition is central to the management of Prader-Willi syndrome (PWS). Despite evidence that visceral adipose tissue (VAT) is associated with increased metabolic risks, the effects of nutritional intervention on fat distribution have not been evaluated for PWS children. We herein investigated fat distribution in 20 genetically diagnosed PWS children (9 males and 11 females); 17 of which received nutritional intervention with or without growth hormone (GH) treatment [GH-treated group (n = 8), GH-untreated group (n = 9)]. GH treatment continued for median of 4.9 years. GH treatment significantly increased height standard deviation score (SDS) whereas body weight SDS and body mass index SDS were not affected in GH-treated group. In GH-untreated group, height SDS significantly decreased during approximately 5 years of follow-up. Fat distribution was evaluated at the median age of 6.93 years in GH-treated group and 7.01 years in GH-untreated group. VAT was maintained within the reference range in both groups. Subcutaneous adipose tissue (SAT) was elevated in GH-untreated groups compared to reference values whereas it was not in GH-treated group. The remaining three subjects, who had never received nutritional intervention or GH treatment, showed increased VAT and SAT. In conclusion, nutritional intervention is beneficial in maintaining VAT within the reference range during childhood, although excessive nutritional intervention may cause unfavorable effect on linear growth.
- Published
- 2020
13. Male assignment in 5α‐reductase type 2 deficiency with female external genitalia
- Author
-
Ayako Konishi, Yuri Etani, Shinobu Ida, Futoshi Matsui, and Masanobu Kawai
- Subjects
Male ,Hypospadias ,Steroid Metabolism, Inborn Errors ,medicine.medical_specialty ,Disorder of Sex Development, 46,XY ,business.industry ,Female external genitalia ,Disorders of Sex Development ,5α reductase ,Endocrinology ,3-Oxo-5-alpha-Steroid 4-Dehydrogenase ,SRD5A2 ,Internal medicine ,Dihydrotestosterone ,Mutation ,Pediatrics, Perinatology and Child Health ,Humans ,Medicine ,Female ,Genitalia ,business ,medicine.drug - Published
- 2021
14. Circulating insulin-like growth factor 1 levels are reduced in very young children with Prader-Willi syndrome independent of anthropometric parameters and nutritional status
- Author
-
Masanobu Kawai, Mikiko Koizumi, Shinobu Ida, Ayako Konishi, and Yuri Etani
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Provocation test ,Levothyroxine ,Physiology ,Nutritional Status ,Insulin-like growth factor ,Endocrinology ,Internal medicine ,Medicine ,Humans ,Insulin-Like Growth Factor I ,Child ,Rank correlation ,Retrospective Studies ,business.industry ,Human Growth Hormone ,Insulin ,Confounding ,nutritional and metabolic diseases ,Infant ,Nutritional status ,Growth hormone secretion ,nervous system diseases ,Child, Preschool ,Growth Hormone ,business ,Prader-Willi Syndrome ,medicine.drug - Abstract
OBJECTIVE Insulin growth factor-1 (IGF-1) is used to evaluate growth hormone (GH) sufficiency and is decreased in children with Prader-Willi syndrome (PWS). Although IGF-1 is negatively affected by body size and nutritional status, both of which are impaired in PWS children, these variables are typically not considered when assessing IGF-1 levels in these subjects. Here, we compared IGF-1 levels in PWS children to controls matched for age, sex, anthropometric parameters, and nutritional status. DESIGN/PATIENTS/MEASUREMENTS The retrospective analysis included genetically diagnosed PWS subjects (n = 65, median age; 14.0 months) and controls (n = 111, 14.3 months) matched for age, sex, anthropometric parameters (height-standard deviation score [SDS], weight-SDS, body mass index-SDS), and serum albumin levels, a marker for nutritional status. IGF-1 SDS was compared between PWS subjects and controls after adjustment for confounding variables. The GH provocation test was performed in 29 PWS subjects, and IGF-1 SDS was compared between GH-sufficient (n = 20) and GH-deficient (n = 9) subjects. Spearman's rank correlation coefficient was performed to investigate the association between age and IGF-1 SDS. None had received GH or levothyroxine treatment. RESULTS After adjustment for confounding variables, IGF-1 SDS was significantly lower in PWS subjects than controls (-1.56 vs. -1.01, p = .003), while it was not different between GH-sufficient and GH-deficient PWS subjects. Correlation analysis failed to show an association between age and IGF-1 SDS both in control and PWS groups. CONCLUSIONS IGF-1 SDS is lower in very young children with PWS independent of anthropometric parameters and nutritional status, suggesting the presence of hypothalamic dysfunction of GH secretion.
- Published
- 2021
15. Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome
- Author
-
Yuri Etani, Masanobu Kawai, Yoko Aoki, Yasuko Shoji, Nobuhiko Okamoto, Shinobu Ida, and Tetsuya Niihori
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Protein Tyrosine Phosphatase, Non-Receptor Type 11 ,Short stature ,Gastroenterology ,Young Adult ,Endocrinology ,Asian People ,Japan ,Internal medicine ,Genotype ,medicine ,Humans ,Child ,Gene ,Genetic Association Studies ,Growth Disorders ,business.industry ,Noonan Syndrome ,Hypertrophic cardiomyopathy ,Infant ,Cardiomyopathy, Hypertrophic ,medicine.disease ,Body Height ,Pulmonary Valve Stenosis ,PTPN11 ,Stenosis ,Child, Preschool ,Mutation ,SOS1 ,Noonan syndrome ,Female ,medicine.symptom ,SOS1 Protein ,business - Abstract
Noonan syndrome (NS) is a heterogeneous disorder with multiple congenital malformations. Recent advances in molecular and genetic approaches have identified a number of responsible genes for NS, most of which are components of the RAS/MAPK signaling pathway, and genotype-phenotype correlation analyses have been extensively performed; however, analysis of Japanese NS patients is limited. Here, we evaluated clinical characteristics in genetically diagnosed NS patients and their relationships to genotypes. A total of 48 clinically diagnosed NS were included, and responsible mutations were identified in 39 patients (81.3%) with PTPN11 mutations being the most prevalent followed by SOS1 mutations. Cardiac anomalies including pulmonary stenosis and hypertrophic cardiomyopathy were most prevalent (87.2%), and the prevalence of hypertrophic cardiomyopathy was greater in patients without PTPN11 mutations than in those with PTPN11 mutations. Short stature was the second-most prevalent (69.2%) characteristic, and present height SD score was significantly associated with height SD score at 1 year old. Patients with SOS1 mutations had greater present height SD score and better growth during infancy. These findings suggest the presence of a genotype-phenotype correlation in Japanese patients with NS, which enables us to use genetic information to predict the clinical course and may allow for genotype-based medical interventions.
- Published
- 2019
16. Diagnostic Pitfall: Mosaic Turner syndrome with a 46, XY lymphocyte karyotype
- Author
-
Yasuko Shoji, Masanobu Kawai, Shinobu Ida, Yuri Etani, and Toshihide Kubo
- Subjects
Pathology ,medicine.medical_specialty ,business.industry ,Lymphocyte ,Karyotype ,Turner Syndrome ,medicine.disease ,Mosaic Turner syndrome ,medicine.anatomical_structure ,Karyotyping ,Pediatrics, Perinatology and Child Health ,Turner syndrome ,medicine ,Humans ,Lymphocytes ,business - Published
- 2020
17. Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited
- Author
-
Yusuke Tanahashi, Tokuo Mukai, Tomonobu Hasegawa, Shinobu Ida, Kenichi Kashimada, Junko Kanno, Takashi Hamajima, Tomohiro Ishii, Toshihiro Tajima, Kenichi Miyako, and Noriyuki Katsumata
- Subjects
0301 basic medicine ,Adult ,medicine.medical_specialty ,Pediatrics ,Adolescent ,medicine.drug_class ,Endocrinology, Diabetes and Metabolism ,Lipoid congenital adrenal hyperplasia ,Fludrocortisone ,Clinical Biochemistry ,Context (language use) ,Biochemistry ,Primary Adrenal Insufficiency ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Endocrinology ,Japan ,Internal medicine ,Mineralocorticoids ,Epidemiology ,medicine ,Humans ,Child ,Disorder of Sex Development, 46,XY ,Adrenal Hyperplasia, Congenital ,business.industry ,Steroidogenic acute regulatory protein ,Biochemistry (medical) ,Infant, Newborn ,Infant ,Middle Aged ,medicine.disease ,Phosphoproteins ,Prognosis ,030104 developmental biology ,Cross-Sectional Studies ,Phenotype ,Mineralocorticoid ,030220 oncology & carcinogenesis ,Child, Preschool ,Mutation ,Female ,business ,Cohort study ,medicine.drug - Abstract
Context Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. Classic (CLCAH) and nonclassic (NCLCAH) forms were reported as total and partial deficiencies, respectively, of adrenal and gonadal steroid hormones. The rarity of LCAH has precluded large-scale epidemiological and clinical investigations. Objective To determine the epidemiological and clinical characteristics of 2 forms of LCAH. Design A multicenter cross-sectional cohort study in Japan on December 1, 2017. Participants Fifty-seven patients with LCAH (median age, 23.7 years; range, 0.0–47.5 years). Main Outcome Measures Patient demographics, STAR genotype, Quigley grade, endocrinological and imaging data, treatment, and prognosis. Results Fifty-three and 4 patients fulfilled definite and probable diagnostic criteria for LCAH, respectively. When NCLCAH was defined as either Quigley grade 1 in XY karyotype, no episode of salt losing or requirement of fludrocortisone, or onset of primary adrenal insufficiency (PAI) at 1 year or older, patients were divided into groups of 43 patients with CLCAH (75.4%), 11 with NCLCAH (19.3%), and 3 with unclassified LCAH (5.3%). All of the patients with CLCAH and 7/11 NCLCAH (63.6%) were treated with fludrocortisone. CLCAH was diagnosed at a significantly younger age than NCLCAH (median, 0.0 vs 4.0 years). STAR-Arg272Cys or -Met225Thr was identified only in NCLCAH (8/11, 72.7%). Conclusions We demonstrated the relative proportions and clinical and molecular characteristics of NCLCAH and CLCAH in Japan. These criteria for NCLCAH correspond to all previously published cases and our cases whose masculinization of the external genitalia, ability of mineralocorticoid production, and onset of PAI were described.
- Published
- 2020
18. Central hypothyroidism improves with age in very young children with Prader-Willi syndrome
- Author
-
Yuri Etani, Ayako Konishi, Yasuko Shoji, Shinobu Ida, and Masanobu Kawai
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Levothyroxine ,Thyrotropin ,030209 endocrinology & metabolism ,Growth hormone ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Hypothyroidism ,Internal medicine ,Central hypothyroidism ,Medicine ,Humans ,Toddler ,Retrospective Studies ,business.industry ,Thyroid ,Confounding ,Age Factors ,nutritional and metabolic diseases ,Infant ,Hypothalamic–pituitary–thyroid axis ,nervous system diseases ,Thyroxine ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Child, Preschool ,Triiodothyronine ,business ,Prader-Willi Syndrome ,hormones, hormone substitutes, and hormone antagonists ,Hormone ,medicine.drug - Abstract
OBJECTIVE Abnormalities in the hypothalamic-pituitary-thyroid (HPT) axis have been implicated in Prader-Willi syndrome (PWS); however, limited information is currently available on age-dependent alterations in the HPT axis. We herein investigated age-dependent differences in thyroid hormone levels in PWS children. DESIGN/PATIENTS/MEASUREMENTS Free T4 (FT4), free T3 (FT3) and thyroid-stimulating hormone (TSH) concentrations were retrospectively compared between genetically confirmed PWS children (N = 43, median age: 11.2 months) and controls (N = 85, median age: 14.5 months) matched for age, sex, body weight-SD score (SDS), height-SDS, body mass index-SDS and serum albumin level, a marker of the nutritional status. Subjects were subdivided into two groups based on their age: an infant group aged between 1 and 11 months (PWS: N = 22, controls: N = 30) and a toddler group aged between 12 and 47 months (PWS: N = 21, controls: N = 55). None of the subjects had ever been treated with growth hormone or levothyroxine. RESULTS After adjustments for confounding variables, in the infant group, FT4 levels (pmol/L) were significantly lower in PWS (11.24 in PWS vs 14.32 in controls, P = .0002), whereas no significant differences were observed in FT3 or TSH levels. In the toddler group, no significant differences were noted in FT4 (12.23 in PWS vs 15.31 in controls, P = .10), FT3 or TSH levels. The FT3/FT4 ratio was significantly increased in PWS in both groups. FT4 levels were positively correlated with age in PWS. CONCLUSIONS Infants with PWS had lower FT4 levels, but FT3 levels were normal, indicating that the levothyroxine replacement therapy may not need to be routinely performed.
- Published
- 2020
19. Fat distribution in short-stature children born small for gestational age
- Author
-
Takatoshi Maeyama, Takehisa Yamamoto, Yuri Etani, Shinsuke Onuma, Yasuko Shoji, Shinobu Ida, and Masanobu Kawai
- Subjects
Male ,medicine.medical_specialty ,Adipose tissue ,Gestational Age ,030204 cardiovascular system & hematology ,Intra-Abdominal Fat ,Short stature ,Body Mass Index ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Reference Values ,030225 pediatrics ,Internal medicine ,Medicine ,Humans ,Growth Disorders ,Adiposity ,Retrospective Studies ,business.industry ,Human Growth Hormone ,Infant, Newborn ,Fat distribution ,Anthropometry ,medicine.disease ,Obesity ,Body Height ,Subcutaneous Fat, Abdominal ,Growth hormone treatment ,Endocrinology ,Adipose Tissue ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Infant, Small for Gestational Age ,Body Composition ,Small for gestational age ,Female ,medicine.symptom ,business ,Tomography, X-Ray Computed ,Body mass index - Abstract
Background Children born small for gestational age (SGA) with catch-up growth are at high risk for developing obesity; however, the characteristics of body composition, especially fat distribution, before and after growth hormone (GH) treatment in SGA children without catch-up growth remains largely unknown. Methods Anthropometric characteristics, body composition by dual-energy X-ray absorption, and fat distribution by computed tomography at the umbilical level were examined in 27 prepubertal short-stature children born SGA before and 1 year after GH treatment. Results Before GH treatment, short-stature SGA children had lean phenotypes, and both visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) were significantly lower than the age- and sex-matched Japanese reference values. Growth hormone treatment significantly increased height standard deviation scores (SDS), without affecting body mass index SDS. Percentage fat mass decreased with GH treatment; however, fat mass was not altered. Both VAT and SAT were significantly lower than the reference values after GH treatment. The ratio of VAT over SAT significantly increased by GH treatment. Conclusions Both VAT and SAT were within or below the age- and sex-matched Japanese reference values in short-stature children born SGA before and after GH treatment, indicating that GH treatment may not have unfavorable effects on adiposity in short-stature children born SGA, although it may alter fat distribution.
- Published
- 2020
20. A Multicenter Prospective Survey on Early-Onset Inflammatory Bowel Disease in Japan
- Author
-
Keiichi Uchida, Takahiro Kudo, Atsushi Yoden, Seiichi Kagimoto, Tohru Fujii, Shinobu Ida, Toshiaki Shimizu, Mika Sasaki, and Shunichi Maisawa
- Subjects
Pancolitis ,medicine.medical_specialty ,Elemental diet ,business.industry ,medicine.medical_treatment ,Incidence (epidemiology) ,Gastroenterology ,medicine.disease ,Inflammatory Bowel Diseases ,Ulcerative colitis ,Inflammatory bowel disease ,Crohn Disease ,Japan ,Internal medicine ,Child, Preschool ,medicine ,Primary immunodeficiency ,Humans ,Colitis, Ulcerative ,Prospective Studies ,medicine.symptom ,business ,Complication ,Colectomy - Abstract
Introduction: The incidence of early-onset inflammatory bowel disease is increasing in Japan. Objective: This study aimed to analyze the treatment and progress of early-onset inflammatory bowel disease. Methods: This prospective survey evaluated the data of 43 patients aged Results: A total of 12 patients with Crohn’s disease (CD), 21 with ulcerative colitis (UC), and 3 with unclassified IBD were enrolled. The mean disease onset age was 3 years and 7 months. Colon and anal lesions were present in 100 and 50% of patients with CD, respectively. Granulomas were detected in 5 patients (41.7%). Dietary elimination including elemental diet was performed in all patients. Eleven patients (91.7%) were in remission by initial induction therapy, and 72.7% maintained remission for 36 months. Three patients (14.3%) with UC had familial history, 71.4% had pancolitis-type UC, and 66.7% exhibited disease of moderate severity. Colectomy was performed in 4 patients (21.1%). Eighteen patients (85.7%) were in remission by initial induction therapy; however, only 15.8% maintained remission for 36 months. Anal complication was more prevalent in infantile-onset IBD than in childhood-onset IBD (p = 0.014). Conclusions: Among Japanese patients aged
- Published
- 2020
21. MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the
- Author
-
Shinsuke, Onuma, Tamaki, Wada, Ryosuke, Araki, Kazuko, Wada, Kanako, Tanase-Nakao, Satoshi, Narumi, Miho, Fukui, Yasuko, Shoji, Yuri, Etani, Shinobu, Ida, and Masanobu, Kawai
- Subjects
Adrenal gland diseases ,Data Report ,Next-generation sequencing ,Rare variants - Abstract
MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser).
- Published
- 2019
22. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities
- Author
-
Takuya Naruto, Takuji Enya, Tomoki Miyazawa, Mitsuru Okada, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Shinobu Ida, Tsukasa Takemura, Keisuke Sugimoto, Nobuhiko Okamoto, Issei Imoto, and Yoshinori Iba
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Genotype ,DNA Mutational Analysis ,Endocrine System ,03 medical and health sciences ,Lethargy ,Pulmonary hypoplasia ,Exome Sequencing ,Intellectual disability ,Genetics ,Humans ,Medicine ,Child ,Alleles ,Genetic Association Studies ,Genetics (clinical) ,Arthrogryposis ,Arthrogryposis multiplex congenita ,business.industry ,Proteins ,Syndrome ,medicine.disease ,Magnetic Resonance Imaging ,Pedigree ,Phenotype ,030104 developmental biology ,Autism spectrum disorder ,Mutation ,Mutation (genetic algorithm) ,Autism ,Female ,medicine.symptom ,business ,Prader-Willi Syndrome ,Biomarkers - Abstract
MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole-exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous). The patients' father was heterozygous for the mutation. Patient 3 was a female infant, showed respiratory difficulty reflecting pulmonary hypoplasia, generalized hypotonia, feeding difficulty and multiple anomalies soon after birth. Targeted next-generation sequencing detected a novel heterozygous mutation in MAGEL2 (c.3131C>A, p.Ser1044*). This mutation was not found in the parents. MAGEL2 mutations, first reported to be the cause of the Prader-Willi like syndrome with autism by Schaaf et al. (2013) Nature Genetics, 45: 1405-1408 show the wide range of phenotypic spectrum from lethal arthrogryposis multiplex congenital to autism spectrum disorder (ASD) and mild intellectual disability (ID). Our results indicate that MAGEL2 mutations cause multiple congenital anomalies and intellectual disability accompanied by arthrogryposis multiplex congenita and various endocrinologic abnormalities, supporting that the view that clinical phenotypes of MAGEL2 mutations are variable.
- Published
- 2018
23. Visceral adipose tissue increases shortly after the cessation of GH therapy in adults with Prader-Willi syndrome
- Author
-
Mikiko Koizumi, Masanobu Kawai, Yukiko Nishimoto, Yuri Etani, Yasuko Shoji, and Shinobu Ida
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Abdominal ct ,Adipose tissue ,030209 endocrinology & metabolism ,Intra-Abdominal Fat ,Young Adult ,03 medical and health sciences ,chemistry.chemical_compound ,Absorptiometry, Photon ,0302 clinical medicine ,Endocrinology ,Bone Density ,Internal medicine ,medicine ,Humans ,Child ,Adverse effect ,Retrospective Studies ,Bone mineral ,Human Growth Hormone ,business.industry ,Cholesterol ,Discontinuation ,030104 developmental biology ,Withholding Treatment ,chemistry ,Child, Preschool ,Body Composition ,Female ,Subcutaneous adipose tissue ,Tomography, X-Ray Computed ,business ,Prader-Willi Syndrome ,Lipoprotein - Abstract
GH therapy in pediatric patients with Prader-Willi syndrome (PWS) improves body composition, but discontinuation of GH after achieving adult height has been implicated in its deterioration. Although there is evidence for the deleterious effects of visceral adipose tissue (VAT) rather than subcutaneous adipose tissue (SAT) on the development of obesity-related complications, the effects of GH discontinuation on fat distribution in adults with PWS has not been fully investigated. Therefore, we utilized dual-energy X-ray absorptiometry (DEXA) and abdominal computed tomography (CT) to compare the fat distribution between before and 6 months or 12 months after the cessation of GH therapy in 7 adult PWS patients. GH therapy was initiated at a mean age of 4.1 ± 1.4 years and discontinued at a mean age of 18.9 ± 1.8 years. Serum IGF-1 levels were decreased by discontinuation of GH therapy. Fat mass was significantly increased 6 and 12 months after GH cessation, whereas muscle mass and bone mineral density were unchanged during both study periods. Abdominal CT analysis revealed that elevations in fat mass were due to increases in VAT rather than SAT. Circulating low-density lipoprotein (LDL) cholesterol levels were significantly elevated 6 months after GH cessation. In conclusion, discontinuation of GH therapy caused rapid increases in visceral adipose tissue and LDL cholesterol levels. These findings indicate that continuation of GH therapy may be a therapeutic option to maintain body composition; however, further studies regarding the long-term benefits and adverse effects of GH therapy in adults with PWS are required.
- Published
- 2018
24. Thyroid hormone status in patients with severe selenium deficiency
- Author
-
Yuri Etani, Masanobu Kawai, Yasuko Shoji, Shinobu Ida, and Shinsuke Onuma
- Subjects
deiodinase ,0301 basic medicine ,endocrine system ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Deiodinase ,chemistry.chemical_element ,030209 endocrinology & metabolism ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Thyroid-stimulating hormone ,Selenium deficiency ,Internal medicine ,medicine ,selenium ,chemistry.chemical_classification ,030109 nutrition & dietetics ,biology ,business.industry ,Thyroid ,medicine.disease ,thyroid hormone ,medicine.anatomical_structure ,chemistry ,Iodothyronine deiodinase ,Pediatrics, Perinatology and Child Health ,biology.protein ,Original Article ,Selenoprotein ,business ,Selenium ,Hormone - Abstract
Selenium (Se) is an essential trace element that is involved in numerous biological processes in the form of a selenoprotein such as iodothyronine deiodinase (DIO). Se deficiency may prevent the conversion of T4 to T3 through reducing DIO expression and thereby affecting thyroid hormone status. However, this has not been well documented in humans. In this study, to clarify the association between Se and thyroid hormone status, we investigated the thyroid hormone levels in patients with severe Se deficiency (< 2 µg/dl). Severe Se deficiency was associated with increases in free T4 levels, but not with decreases and increases in free T3 and thyroid stimulating hormone (TSH) levels, respectively. Increases in free T4 levels during Se deficiency were reduced with Se supplementation; however, neither free T3 nor TSH levels were affected. Taken together, these findings indicate that free T4 may be a useful biomarker for Se status when serum Se levels are severely low.
- Published
- 2018
25. Psychological Changes and Adaptation: Primary Amenorrhea Associated with Disorders of Sex Development
- Author
-
Kazuyo Iwami, Shinobu Ida, and Tomoko Sumiyoshi
- Subjects
media_common.quotation_subject ,Female gender identity ,Loneliness ,General Medicine ,medicine.disease ,Grounded theory ,Feeling ,medicine ,Disorders of sex development ,medicine.symptom ,Primary amenorrhea ,Psychology ,Adaptation (computer science) ,media_common ,Qualitative research ,Clinical psychology - Abstract
This qualitative study investigated the psychological changes and process of adaptation among women after a diagnosis of primary amenorrhea associated with disorders of sex development (DSD). Data were obtained of 20 patients aged ≥ 25 years via interviews and analyzed using the modified grounded theory approach. Six categories were created: increasing doubt about gender identity, questioning and exploratory behaviors, feelings of loneliness and confusion, searching for self with the help of support resources, control for coexistence in society, living at peace with one’s body, and liberation from a sense of alien existence. Participants experienced fluctuations in parameters of gender identity, loneliness, and confusion. Encountering good experiences during exploration of helpful resources made them more confident of their female gender identity, thus helping them adapt. For women with primary amenorrhea associated with DSD, the process of becoming liberated from an obsession with their condition after receiving a diagnosis was characterized by the phrase “regaining confidence in being a woman.&rdquo
- Published
- 2021
26. Development of an efficient one-step real-time reverse transcription polymerase chain reaction method for severe acute respiratory syndrome-coronavirus-2 detection
- Author
-
Kiyoshi Yasukawa, Koichiro Suzuki, Muneyuki Takeuchi, Yoshitaka Tamura, Yuichiro Oba, Nobuaki Hatori, Yukiko Nakura, Heng Ning Wu, Itaru Yanagihara, Yuya Okamoto, Shinsuke Fujiwara, Shinobu Ida, and Fumiko Nishiumi
- Subjects
RNA viruses ,0106 biological sciences ,Coronaviruses ,Hydrolases ,DNA polymerase ,Artificial Gene Amplification and Extension ,Biochemistry ,Polymerases ,01 natural sciences ,law.invention ,law ,Pathology and laboratory medicine ,Polymerase chain reaction ,Reaction time ,0303 health sciences ,Multidisciplinary ,biology ,Reverse Transcriptase Polymerase Chain Reaction ,Chemistry ,Medical microbiology ,Enzymes ,Reverse transcription polymerase chain reaction ,Real-time polymerase chain reaction ,Viruses ,Medicine ,Pathogens ,SARS CoV 2 ,Research Article ,SARS coronavirus ,Nucleases ,RNase P ,Cognitive Neuroscience ,Science ,Virus testing ,Research and Analysis Methods ,Real-Time Polymerase Chain Reaction ,Microbiology ,03 medical and health sciences ,Ribonucleases ,Diagnostic Medicine ,010608 biotechnology ,DNA-binding proteins ,Genetics ,Humans ,Molecular Biology Techniques ,Molecular Biology ,030304 developmental biology ,Medicine and health sciences ,Gene amplification ,Reverse transcriptase-polymerase chain reaction ,SARS-CoV-2 ,Organisms ,Viral pathogens ,Biology and Life Sciences ,Proteins ,COVID-19 ,RNA ,biology.organism_classification ,Molecular biology ,Reverse transcriptase ,Microbial pathogens ,Thermococcus kodakarensis ,RNA amplification ,Enzymology ,biology.protein ,Cognitive Science ,Neuroscience - Abstract
The general methods to detect the RNA of severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) in clinical diagnostic testing involve reverse transcriptases and thermostable DNA polymerases. In this study, we compared the detection of SARS-CoV-2 by a one-step real-time RT-PCR method using a heat-resistant reverse transcriptase variant MM4 from Moloney murine leukemia virus, two thermostable DNA polymerase variants with reverse transcriptase activity from Thermotoga petrophila K4 and Thermococcus kodakarensis KOD1, or a wild-type DNA polymerase from Thermus thermophilus M1. The highest performance was achieved by combining MM4 with the thermostable DNA polymerase from T. thermophilus M1. These enzymes efficiently amplified specific RNA using uracil-DNA glycosylase (UNG) to remove contamination and human RNase P RNA amplification as an internal control. The standard curve was obtained from 5 to 10⁵ copies of synthetic RNA. The one-step real-time RT-PCR method’s sensitivity and specificity were 99.44% and 100%, respectively (n = 213), compared to those of a commercially available diagnostic kit. Therefore, our method will be useful for the accurate detection and quantification of SARS-CoV-2., 新型コロナウイルス検出酵素試薬の開発 --独自酵素開発酵素によるOne-Step Real-Time PCR法--. 京都大学プレスリリース. 2021-06-07.
- Published
- 2021
27. Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases
- Author
-
Mikiko Koizumi, Nobuhiko Okamoto, Yuri Etani, Yoshikazu Hatsukawa, Yasuko Shoji, and Shinobu Ida
- Subjects
growth hormone deficiency ,Pediatrics ,medicine.medical_specialty ,genetic structures ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Hypopituitarism ,Growth hormone deficiency ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,septo-optic dysplasia ,030225 pediatrics ,Internal medicine ,medicine ,Endocrine system ,Precocious puberty ,optic nerve hypoplasia ,Optic nerve hypoplasia ,business.industry ,Septo-optic dysplasia ,medicine.disease ,eye diseases ,hypopituitarism ,Dysplasia ,Pediatrics, Perinatology and Child Health ,Original Article ,midline brain defects ,business ,Hormone - Abstract
A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies. A thin pituitary stalk and a gradual decrease in hormone secretion were the main characteristics. SOD patients usually visited ophthalmologists during early infancy because of eye problems; however, the medical examination did not always lead to endocrine assessments being made. Consequently, children who have eye problems with optic nerve hypoplasia should undergo head MRI imaging. If diagnosed with SOD, it is very important to evaluate pituitary functions. Their endocrinological status should be followed for a long time, even if they do not exhibit any endocrinological problems at evaluation.
- Published
- 2017
28. Clinical practice guidelines for congenital hyperinsulinism
- Author
-
Hiroaki Kitagawa, Shun Soneda, Yoshiaki Kinoshita, Reiko Horikawa, Masato Shinkai, Shinobu Ida, Hideyuki Sasaki, Masaki Nio, Yutaka Kanamori, Masanori Minagawa, Takeo Yonekura, Tohru Yorifuji, Masanori Adachi, and Tomonobu Hasegawa
- Subjects
medicine.medical_specialty ,Medical treatment ,Pediatric endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Pediatric Surgeon ,Guideline ,Evidence level ,medicine.disease ,Clinical Practice ,congenital hyperinsulinism ,03 medical and health sciences ,hypoglycemia ,0302 clinical medicine ,Endocrinology ,Systematic review ,030225 pediatrics ,Pediatrics, Perinatology and Child Health ,medicine ,Congenital hyperinsulinism ,Original Article ,guidelines ,Intensive care medicine ,business - Abstract
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including general features of congenital hyperinsulinism, diagnostic criteria and tools for diagnosis, first- and second-line medical treatment, criteria for and details of surgical treatment, and future perspectives. These guidelines were generated as a collaborative effort between The Japanese Society for Pediatric Endocrinology and The Japanese Society of Pediatric Surgeons, and followed the official procedures of guideline generation to identify important clinical questions, perform a systematic literature review (April 2016), assess the evidence level of each paper, formulate the guidelines, and obtain public comments.
- Published
- 2017
29. Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature
- Author
-
Yuko Katoh-Fukui, Atsushi Hattori, Marie Mitani, Shinobu Yoshida, Toshiaki Tanaka, Masanori Adachi, Akie Nakamura, Sumito Dateki, Hiroyuki Tanaka, Keisuke Nagasaki, Tsutomu Ogata, Erina Suzuki, Koji Muroya, Tsutomu Kamimaki, Kazuhiko Nakabayashi, Yoichi Matsubara, Kenichiro Hata, Keiko Matsubara, Satoshi Narumi, Maki Fukami, and Shinobu Ida
- Subjects
Male ,Receptors, Neuropeptide ,0301 basic medicine ,Endocrinology, Diabetes and Metabolism ,Growth hormone receptor ,medicine.disease_cause ,Receptor, IGF Type 1 ,Cohort Studies ,0302 clinical medicine ,Endocrinology ,Japan ,Receptors, Pituitary Hormone-Regulating Hormone ,Databases, Genetic ,STAT5 Transcription Factor ,Aggrecans ,Child ,Growth Disorders ,Genetics ,Mutation ,High-Throughput Nucleotide Sequencing ,NPR2 ,Penetrance ,Idiopathic short stature ,Child, Preschool ,Female ,medicine.symptom ,hormones, hormone substitutes, and hormone antagonists ,Heterozygote ,medicine.medical_specialty ,Expert Systems ,030209 endocrinology & metabolism ,Biology ,Short stature ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,Receptor, Fibroblast Growth Factor, Type 3 ,Genetic Predisposition to Disease ,Genetic Testing ,Gene ,Genetic Association Studies ,Glycoproteins ,Insulin-like growth factor 1 receptor ,Computational Biology ,Receptors, Somatomedin ,medicine.disease ,030104 developmental biology ,Amino Acid Substitution ,Carrier Proteins - Abstract
Although mutations in ACAN, FGFR3, NPR2, and SHOX typically lead to skeletal dysplasia, and mutations in GHRHR, GH1, GHR, STAT5B, IGF1, IGFALS, and IGF1R usually underlie hormonal defects of the growth hormone (GH)-insulin-like growth factor 1 (IGF1) axis, such mutations have also been identified in patients with idiopathic short stature (ISS). Of these, SHOX abnormalities are known to account for a certain percentage of ISS cases, whereas the frequency of mutations in the other 10 genes in ISS cohorts remains unknown. Here, we performed next-generation sequencing-based mutation screening of the 10 genes in 86 unrelated Japanese ISS patients without SHOX abnormalities. We searched for rare protein-altering variants. The functional significance of the identified variants was assessed by in silico analyses. Consequently, we identified 18 heterozygous rare variants in 19 patients, including four probable damaging variants in ACAN, six pathogenicity-unknown variants in FGFR3, GHRHR, GHR, and IGFALS, and eight possible benign variants. Pathogenic variants in NPR2, GH1, and IGF1 were absent from our cohort. Unlike previously reported patients with ACAN mutations, our four patients with ACAN variants manifested non-specific short stature with age-appropriate or mildly delayed bone ages, and had parents of normal stature. These results indicate that ACAN mutations can underlie ISS without characteristic skeletal features, and that such mutations are possibly associated with de novo occurrence or low penetrance. In addition, our data imply that mutations in FGFR3, NPR2, and GH-IGF1 axis genes play only limited roles in the etiology of ISS.
- Published
- 2017
30. Ovarian insufficiency following allogeneic hematopoietic stem cell transplantation
- Author
-
Shoko Shimizu, Hiroko Komura, Nobuaki Mitsuda, Mariko Shimizu, Tadashi Kimura, Mahiru Kawano, Yuri Etani, Kenjiro Sawada, Mariko Nakacho, Masami Inoue, Maho Sato, Yasuko Shoji, Haruna Kawaguchi, Namiko Yada-Hashimoto, Shinobu Ida, and Hirohisa Kurachi
- Subjects
Adult ,Oncology ,endocrine system ,medicine.medical_specialty ,Transplantation Conditioning ,endocrine system diseases ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Hematopoietic stem cell transplantation ,Primary Ovarian Insufficiency ,Lower risk ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,hemic and lymphatic diseases ,Internal medicine ,Outcome Assessment, Health Care ,medicine ,Humans ,Young adult ,Pregnancy ,Estradiol ,business.industry ,Age Factors ,Hematopoietic Stem Cell Transplantation ,Obstetrics and Gynecology ,Ovarian Insufficiency ,Prognosis ,medicine.disease ,female genital diseases and pregnancy complications ,Surgery ,Transplantation ,surgical procedures, operative ,030220 oncology & carcinogenesis ,Female ,business ,Complication ,030215 immunology - Abstract
Ovarian insufficiency is a serious complication for young women who undergo hematopoietic stem cell transplantation (HSCT). Reduced-intensity conditioning (RIC) has been utilized more widely due to its reduced toxicity; however, there is a lack of data concerning ovarian function after HSCT with RIC. We investigated the ovarian function in patients who received HSCT with RIC, compared to those who received myeloablative conditioning (MAC). The records of 69 female patients who received allogeneic HSCT at the institution under 40 years of age at transplantation from 1991 to 2012 were retrospectively analyzed. Prevalence of ovarian insufficiency was significantly lower in patients conditioned with RIC than in those conditioned with MAC (4/27 = 14.8% for RIC and 36/42 = 85.7% for MAC, p
- Published
- 2016
31. Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017
- Author
-
Kanshi Minamitani, Tadayuki Ayabe, Hidenori Haruna, Tomonobu Hasegawa, Keiichi Ozono, Kenji Ihara, Saori Kinjo, Shinobu Ida, Yoko Miyoshi, Keisuke Nagasaki, and Rie Matsushita
- Subjects
Calcitonin ,Male ,medicine.medical_specialty ,Time Factors ,Adolescent ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,030209 endocrinology & metabolism ,Multiple endocrine neoplasia type 2 ,Multiple Endocrine Neoplasia Type 2a ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Postoperative Complications ,Japan ,Surveys and Questionnaires ,Medicine ,Humans ,Cumulative incidence ,Multiple endocrine neoplasia ,Child ,Germ-Line Mutation ,Retrospective Studies ,business.industry ,Thyroid ,Proto-Oncogene Proteins c-ret ,Thyroidectomy ,Retrospective cohort study ,medicine.disease ,Prognosis ,Surgery ,medicine.anatomical_structure ,Hypoparathyroidism ,030220 oncology & carcinogenesis ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neoplasm Recurrence, Local ,business ,Complication ,Biomarkers ,Follow-Up Studies - Abstract
Background In Japan, prophylactic thyroidectomy involves out-of-pocket expense. The American Thyroid Association (ATA) recommends prophylactic thyroidectomy for medullary thyroid carcinoma (MTC) during early childhood in patients with multiple endocrine neoplasia type 2 (MEN2). The ATA reports a high frequency of postoperative complications in childhood, which also influenced the delay of prophylactic thyroidectomy in Japan. Methods This retrospective study of multiple medical centers in Japan included individuals aged RET mutations between 1997 and 2017. The onset and onset possibility were defined based on confirmed lesions or calcitonin levels. The definition of risk and prophylactic thyroidectomy were based on the ATA 2015 revised guideline. Results Twenty-one patients with MEN2 were enrolled (highest risk, n = 5; high risk, n = 5; and moderate risk, n = 11). The cumulative incidence of the onset/onset possibility reached 50% at 5 and 8 years and 100% at 9 years and 17 years in high- and moderate-risk patients, respectively. Of 7 patients with MEN2A, 71% underwent prophylactic thyroidectomy. Only one 5-year-old patient (C634Y) had increased serum calcitonin level after prophylactic thyroidectomy in the MEN2A group. The only permanent complication, which did not occur in patients who underwent total thyroidectomy alone, was hypoparathyroidism (33% of patients). This permanent complication occurred with clinically developed MTC. No permanent postoperative complications occurred in patients aged 5–6 years. Conclusions Prophylactic thyroidectomy reduces recurrence and postoperative complications in pediatric patients with MEN2. Early thyroidectomy based on only calcitonin level could possibly reduce thyroidectomy delay.
- Published
- 2018
32. Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan
- Author
-
Kazuhiro Ohkubo, Jun Fujishiro, Sotaro Mushiake, Yuji Sekine, Tatsuki Mizuochi, Tadahiro Yanagi, Ken ichiro Konishi, Yushiro Yamashita, Kei Masuda, Shouichi Ohga, Atsuko Noguchi, Yasufumi Ohtsuka, Kazumasa Fuwa, Tomoaki Taguchi, Nobuyuki Kikuchi, Takahiro Kudo, Yoriko Watanabe, Ichiro Takeuchi, Hidenori Tanaka, Hidehiko Maruyama, Ken Yamamoto, Shinobu Ida, and Yuka Yotsumoto
- Subjects
Diarrhea ,Male ,Pediatrics ,medicine.medical_specialty ,Polyhydramnios ,Congenital chloride diarrhea ,DNA Mutational Analysis ,SLC26A3 ,Bartter syndrome ,Compound heterozygosity ,Genetic analysis ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,Japan ,030225 pediatrics ,Molecular genetics ,Humans ,Medicine ,Chloride-Bicarbonate Antiporters ,Genetic Testing ,030212 general & internal medicine ,Retrospective Studies ,Sanger sequencing ,biology ,business.industry ,Incidence ,Infant, Newborn ,DNA ,medicine.disease ,Survival Rate ,Sulfate Transporters ,Population Surveillance ,Mutation ,Pediatrics, Perinatology and Child Health ,symbols ,biology.protein ,Female ,business ,Metabolism, Inborn Errors ,Follow-Up Studies ,Forecasting ,Transcription Factors - Abstract
To clarify clinical and genetic features of Japanese children with congenital chloride diarrhea (CCD).This was a multi-institutional, retrospective survey of 616 pediatric centers in Japan with identified patients with CCD between 2014 and 2018. Mutations involving SLC26A3 were detected by Sanger sequencing.Thirteen patients met all entry criteria including mutations in SLC26A3, and 14 patients satisfied clinical diagnostic criteria. Homozygous or compound heterozygous mutations in SLC26A3, including 6 novel mutations, were identified in 13 of these 14 patients (93%). The most common (detected in 7 of 13) was c.2063-1gt. Median age at diagnosis was 1 day. Nine of the patients meeting all criteria were diagnosed as neonates (69%). Median follow-up duration was 10 years. When studied, 8 patients had5 stools daily (62%), and all had fewer than in infancy. Only 1 patient had nephrocalcinosis, and 3 (23%) had mild chronic kidney disease. Neurodevelopment was generally good; only 1 patient required special education. Five patients (38%) received long-term sodium, potassium, and chloride supplementation.Early fetal ultrasound diagnosis and prompt long-term sodium, potassium, and chloride supplementation were common management features. Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. In contrast with previously reported localities, c.2063-1gt might be a founder mutation in East Asia.
- Published
- 2019
33. Oral esomeprazole in Japanese pediatric patients with gastric acid-related disease: Safety, efficacy, and pharmacokinetics
- Author
-
Tomoki Satou, Toshitaka Yajima, Eizaburo Ishii, Masahiro Nii, Toshiaki Shimizu, Katsuhiro Arai, Yoshiko Nakayama, Shinobu Ida, Hans Rydholm, and Daisuke Tokuhara
- Subjects
Male ,medicine.medical_specialty ,Adolescent ,Administration, Oral ,Disease ,CYP2C19 ,030204 cardiovascular system & hematology ,Gastroenterology ,Asymptomatic ,Esomeprazole ,Gastric Acid ,03 medical and health sciences ,0302 clinical medicine ,Pharmacokinetics ,Japan ,030225 pediatrics ,Internal medicine ,medicine ,Humans ,Endoscopy, Digestive System ,Adverse effect ,Child ,business.industry ,Infant ,Proton Pump Inhibitors ,Hydrogen-Ion Concentration ,Cytochrome P-450 CYP2C19 ,Pharmacodynamics ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Gastroesophageal Reflux ,Gastric acid ,Female ,medicine.symptom ,business ,medicine.drug - Abstract
Background Proton pump inhibitors (PPI) are widely used for the treatment of gastric acid-related disease, but they are not approved for use in children in Japan. To assess the safety, pharmacokinetics, pharmacodynamics, and efficacy (gastrointestinal symptom improvement) of PPI in Japanese pediatric patients with gastric acid-related disease, we conducted an 8 week, open-label, parallel-group, multicenter, phase I/III study of once-daily oral esomeprazole use. Methods Japanese children, aged 1-14 years with gastric acid-related disease, were stratified by weight and age into five groups (10 patients/group) to receive esomeprazole as granules for suspension (10 mg) or capsules (10 mg or 20 mg) once daily. Results Esomeprazole was absorbed and eliminated rapidly in all groups, with a median time to reach maximum plasma concentration of 1.47-1.75 h, an arithmetic mean terminal elimination half-life of 0.80-1.37 h, and a weight-correlated apparent total body clearance of 0.216-0.343 L/h/kg. Area under the plasma concentration-time curve during a dosage interval and maximum plasma drug concentration were generally higher in groups given a higher dose (20 mg) or with a lower age/weight, but also in patients identified as poor metabolizers on cytochrome P450 2C19 genotype. Most patients who had any upper gastrointestinal symptoms at baseline were asymptomatic at the end of the study. Thirty-three patients (66%) reported ≥1 adverse events, including three patients who reported serious adverse events not judged to be causally related to esomeprazole. Conclusions Oral esomeprazole, at 10 mg or 20 mg once daily, had a similar safety, efficacy, and pharmacokinetic profile in Japanese pediatric patients to that previously seen in adults and Caucasian children.
- Published
- 2018
34. Parental awareness of young children's pattern of ionic beverage consumption
- Author
-
Akihisa Okumura, Setsuko Ito, Mitsuyoshi Suzuki, Masaaki Mori, Tatsuya Oguni, Toshiaki Shimizu, and Shinobu Ida
- Subjects
Adult ,Male ,Parents ,Child Behavior ,Drinking Behavior ,Beverages ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Environmental health ,Surveys and Questionnaires ,Medicine ,Humans ,030212 general & internal medicine ,Consumption (economics) ,Beverage consumption ,business.industry ,Infant ,Awareness ,Middle Aged ,Frequent use ,Current consumption ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,business ,Attitude to Health - Abstract
Background The aim of this study was to investigate consumer perception of ionic beverage consumption by young children as a potential link to their excessive use. Methods We studied parents' awareness of ionic beverages and the current pattern of use in their young children using a self-administered questionnaire. Results A total of 424 responses were recorded. Approximately 25-33% of parents believed that ionic beverages are good for health and rich in nutrients and vitamins, but, only 5.9% of the parents agreed with the statement that ionic beverages are safe to consume in large quantities. Regarding their use, 11 children (2.6%) were drinking ionic beverages every day or several times a week. The parents of these children were classified into the frequent use group. The rates at which parents agreed with statements that ionic beverages are good for health and rich in vitamins were higher in the frequent use group than in controls. Conclusion Parental awareness of ionic beverages, and current consumption patterns in their young children are generally good. Having a positive opinion about the benefits of ionic beverages was associated with excessive consumption.
- Published
- 2018
35. Vitamin B1 Deficiency Related to Excessive Soft Drink Consumption in Japan
- Author
-
Akihisa Okumura, Toshiaki Shimizu, Masaaki Mori, and Shinobu Ida
- Subjects
Vitamin ,Male ,Pediatrics ,medicine.medical_specialty ,Daily intake ,Carbonated Beverages ,Nationwide survey ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Japan ,030225 pediatrics ,Patient information ,medicine ,Humans ,Thiamine ,Consumption (economics) ,Wernicke Encephalopathy ,Home environment ,business.industry ,Gastroenterology ,Infant ,Thiamine Deficiency ,Feeding Behavior ,Nutrition Surveys ,chemistry ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Soft drink ,business ,030217 neurology & neurosurgery - Abstract
The aim of this study was to clarify the picture of vitamin B1 deficiency (VB1D) caused by excessive soft drink consumption in Japan. A nationwide survey of children with soft drink-induced VB1D was conducted using a structured research form. Patient information was obtained from 2 sources: training hospitals for board-certified pediatricians and those identified by a database search. We obtained data from 33 children. Twenty-one children had a nonnurturing home environment. The median duration of excessive soft drink intake was 3.5 months and the daily intake was 1000 mL or more in 25 children. Infection was the most common reason for excessive soft drink consumption. Only 4 children had the classical triad of Wernicke encephalopathy. One child died, and 12 had neurological sequelae. A majority of children with soft drink-induced VB1D did not have a nurturing home environment. It is imperative to establish measures to prevent future cases of VB1D.
- Published
- 2017
36. Selenium deficiency in children and adolescents nourished by parenteral nutrition and/or selenium-deficient enteral formula
- Author
-
Yasuko Shouji, Yukiko Nishimoto, Yuri Etani, Shinobu Ida, Kouji Kawamoto, Hiroyuki Yamada, and Hisayoshi Kawahara
- Subjects
Adult ,Male ,inorganic chemicals ,Parenteral Nutrition ,medicine.medical_specialty ,Adolescent ,Elemental diet ,chemistry.chemical_element ,Biochemistry ,Enteral administration ,Serum selenium ,Gastroenterology ,Cardiac dysfunction ,Inorganic Chemistry ,Selenium ,Young Adult ,Selenium deficiency ,Internal medicine ,medicine ,Humans ,business.industry ,Macrocythemia ,food and beverages ,medicine.disease ,Surgery ,Parenteral nutrition ,chemistry ,Child, Preschool ,Molecular Medicine ,Female ,business - Abstract
The authors analyzed serum selenium levels of 95 children and adolescents with intestinal dysfunction and/or neurological disabilities [age range: 7 months-20 years; mean±standard deviation (SD): 8.0±5.3 years] who received parenteral nutrition (PN) and/or enteral nutrition (EN) with either reduced or no selenium doses for more than 3 months. Twenty-eight patients (29%) showed serum selenium levels below 4.0μg/dL. Five patients whose serum selenium levels were below 2μg/dL presented various clinical manifestations, including hair browning (n=5), macrocythemia (n=4), nail whitening (n=3) and cardiac dysfunction (n=1). None of these 5 patients were nourished through ordinary diets. Three of these patients were nourished through selenium-free enteral nutritional products, 1 through selenium-deficient PN and 1 through PN and a formula with reduced selenium. After selenium supplement therapy for 1 year, all 5 patients exhibited improvement in their serum selenium levels and clinical features of selenium deficiency. It is important to be cautious about secondary selenium deficiency in children and adolescents nourished only through EN/PN without an adequate dose of selenium.
- Published
- 2014
37. Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan
- Author
-
Takeshi Tomomasa, Kosuke Ushijima, Sotaro Mushiake, Tomohiro Ishii, Kouji Nagata, Tamaki Ikuse, Takeo Yonekura, Tomoaki Taguchi, Takahiro Kudo, Yoshimitsu Fujii, Toshiaki Shimizu, Shinobu Ida, Hiroshi Tamai, Tadahiro Yanagi, Katsuhiro Arai, and Akira Toki
- Subjects
Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Malabsorption ,Adolescent ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Japan ,030225 pediatrics ,Surveys and Questionnaires ,Pediatric surgery ,medicine ,Humans ,Lipomatosis ,Young adult ,Exocrine pancreatic insufficiency ,Child ,Bone Marrow Diseases ,Shwachman–Diamond syndrome ,business.industry ,Infant ,Guideline ,medicine.disease ,Prognosis ,Shwachman-Diamond Syndrome ,Steatorrhea ,Diarrhea ,030220 oncology & carcinogenesis ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Exocrine Pancreatic Insufficiency ,Female ,medicine.symptom ,business - Abstract
Background Shwachman-Diamond syndrome (SDS) is a rare multisystem disorder associated with exocrine pancreatic insufficiency. The present study reports the results of a nationwide survey and a systematic review on SDS to develop consensus guidelines for intractable diarrhea including SDS. Methods Questionnaires were sent to 616 departments of pediatrics or of pediatric surgery in Japan in a nationwide survey. A second questionnaire was sent to doctors who had treated SDS patients and included questions on clinical information. Additionally, a systematic review was performed using digital literature databases to assess the influence of medical (i.e. non-surgical) treatment on SDS prognosis. Results Answers were received from 529 institutions (85.9%), which included information on 24 patients with SDS (median age, 10.4 years; male, n = 15) treated from January 2005 to December 2014. Although 75% of patients received pancreatic enzyme replacement therapy, there was no significant association between treatment and prognosis. Systematic review identified one clinical practice guideline, two case series, eight case reports and 26 reviews. Patient information from those studies was insufficient for meta-analysis. Conclusions The rarity of SDS makes it difficult to establish evidence-based treatment for SDS. According to the limited information from patients and published reports, medical treatment for malabsorption due to SDS should be performed to improve fat absorption and stool condition, but it is not clear whether this treatment improves the prognosis of malabsorption.
- Published
- 2017
38. Esophago-gastric motility and nutritional management in a child with ATR-X syndrome
- Author
-
Takahiko Wada, Michinobu Ohno, Kaori Sato, Masataka Takahashi, Shinobu Ida, Yutaka Kanamori, Hisayoshi Kawahara, Katsuhiro Arai, Toshihiko Watanabe, and Yasushi Fuchimoto
- Subjects
medicine.medical_specialty ,Gastric volvulus ,business.industry ,medicine.medical_treatment ,Gastric motility ,Aspiration pneumonia ,medicine.disease ,Gastrostomy ,Gastroenterology ,Gastropexy ,Esophageal motility disorder ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,Vomiting ,medicine.symptom ,Gastrointestinal function ,business - Abstract
X-linked alpha thalassemia mental retardation (ATR-X) syndrome is an X-linked recessive disorder that often involves gastrointestinal symptoms. Aspiration pneumonia related to gastroesophageal reflux has been reported as the major cause of death, but gastrointestinal function has not been well investigated. The present report describes a child with ATR-X syndrome who suffered from periodical episodes of refractory vomiting. We investigated the function of upper alimentary tract and found that esophago-gastric dysmotility and severe gastric volvulus were the major causes of gastrointestinal symptoms. This child was surgically treated with anterior gastropexy and jejunal alimentation through gastrostomy, and the symptoms were relieved with good weight gain. This report may provide insight into the gastrointestinal function and nutritional management in children with ATR-X syndrome.
- Published
- 2014
39. The most reliable early predictors of outcome in patients with biliary atresia after Kasai’s operation
- Author
-
Akihiro Yoneda, Taro Goda, Satoshi Umeda, Akio Kubota, Gakuto Tani, Tomohiro Ishii, Yuko Tazuke, Yuri Etani, Katsuhisa Hirano, Shinobu Ida, and Hisayoshi Kawahara
- Subjects
medicine.medical_specialty ,Bilirubin ,medicine.medical_treatment ,Group ii ,Direct bilirubin ,Portoenterostomy, Hepatic ,Kaplan-Meier Estimate ,Liver transplantation ,Gastroenterology ,Decision Support Techniques ,chemistry.chemical_compound ,Liver Function Tests ,Biliary Atresia ,Biliary atresia ,Internal medicine ,medicine ,Humans ,In patient ,Aspartate Aminotransferases ,Survival rate ,Receiver operating characteristic ,business.industry ,Infant, Newborn ,Infant ,Alanine Transaminase ,gamma-Glutamyltransferase ,General Medicine ,medicine.disease ,Liver Transplantation ,Surgery ,Treatment Outcome ,ROC Curve ,chemistry ,Pediatrics, Perinatology and Child Health ,business ,Biomarkers ,Follow-Up Studies - Abstract
The purpose of this study was to determine reliable predictors of outcome of biliary atresia (BA) after Kasai's operation.Fifty-four BA cases that underwent Kasai's operation at our institution over two decades were reviewed. The cases were divided into two groups: Group I: cases that required liver transplantation or died (n=30) and Group II: cases alive with the native liver. Serum levels of total bilirubin (TB), direct bilirubin (DB), aspartate aminotransferase (AST), alanine aminotransferase (ALT), and gamma-glutamyltransferase (GGT) were measured sequentially after surgery. For cut-off determination, receiver operating characteristic (ROC) analysis was employed.Serum TB, DB, AST, and ALT in Group I were significantly higher than those in Group II at 1, 2, and 3 months after surgery (p.05). The most reliable cut-offs determined by ROC analysis were DB of 0.7 mg/dl at 2 months (sensitivity; 93%, specificity; 75%) and AST of 94 IU/L at 2 months (sensitivity; 87%, specificity; 71%). The 54 cases were re-divided into three groups according to the cut-off values: group G (good) with DB and ASTcut-offs (n=16; Group I:II=1:15), group M (moderate) with DB or ASTcut-offs (n=9; Group I:II=4:5), and group P (poor) with DB and AST ≥ cut-offs (n=29; Group I:II=25:4). The 15-year survival rate in groups G, M, and P was 94%, 44%, and 22%, respectively (p.001).The combination of serum DB and AST at 2 months after Kasai's operation is a reliable predictor of long-term BA outcome.
- Published
- 2013
40. Gonadal function and testicular histology in males with Prader-Willi syndrome
- Author
-
Shinobu Ida, Atsushi Mizokami, Makoto Takeuchi, Fumi Matsumoto, Futoshi Matsui, Masashi Iijima, Satoko Matsuyama, and Keiko Matsuoka
- Subjects
endocrine system ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Physiology ,030209 endocrinology & metabolism ,Reference range ,Context (language use) ,Prader‐Willi syndrome ,03 medical and health sciences ,0302 clinical medicine ,hypogonadism ,longitudinal studies ,Medicine ,Orchiopexy ,Stage (cooking) ,Pathological ,Testosterone ,030219 obstetrics & reproductive medicine ,business.industry ,Histology ,Original Articles ,gonadal function ,Testicular histology ,testicular histology ,Original Article ,business - Abstract
Context Cryptorchidism is common in Prader-Willi syndrome (PWS) males, but the testicular histology in childhood remains uncertain. The association between testicular histology and long-term gonadal function in PWS males is also unknown. Objectives To evaluate the relationship between testicular histology in childhood and long-term gonadal function in PWS males. Patients and methods Forty men with PWS were assessed longitudinally at our institute over the past 24 years. Clinical examinations and blood tests for LH, FSH and testosterone levels were compared with normal reference values. Tissue specimens were collected during orchiopexy and analyzed based on Nistal categories. Results Of nine testes available for pathological assessments, two showed favourable histology (Nistal I) and seven showed unfavourable histology (Nistal II or III). Of five postpubertal males with histology available, four reached puberty spontaneously, but only one reached Tanner stage 5. In a male with favourable histology, LH and FSH were high, but testosterone was normal, though below the average of the reference range. In three males with unfavourable histology, LH was normal, but FSH was highly elevated, and testosterone was at the lower limit of normal. One patient took hCG treatment to induce puberty; this patient showed favourable histology, but LH, FSH and testosterone were not elevated in adolescence. Conclusions Testicular histology of PWS men in childhood varies from normal to Sertoli Cell-Only Syndrome. Regardless of the testicular histology in childhood, hypogonadism in PWS adults arises as a consequence of primary testicular dysfunction with highly elevated FSH and insufficient testosterone levels.
- Published
- 2018
41. Characteristics of inflammatory bowel disease with an onset before eight years of age: A multicenter epidemiological survey in Japan
- Author
-
Toshiaki Shimizu, Mika Sasaki, Shunichi Maisawa, Seiichi Kagimoto, Shinobu Ida, Keiichi Uchida, and Atsushi Yoden
- Subjects
medicine.medical_specialty ,Crohn's disease ,Pancolitis ,Hepatology ,business.industry ,Gastroenterology ,Retrospective cohort study ,Disease ,medicine.disease ,Inflammatory bowel disease ,Ulcerative colitis ,digestive system diseases ,Internal medicine ,Epidemiology ,medicine ,Age of onset ,medicine.symptom ,business - Abstract
Background and Aim Pediatric inflammatory bowel disease (IBD) has not been rare in Japan since the 1990s. The present study attempted to define the epidemiological and clinical characteristics of early-childhood IBD in Japan in comparison with results from Western countries. Methods Among children diagnosed as having IBD between January 1998 and December 2008, those showing onset before 8 years of age were investigated retrospectively. A questionnaire survey was carried out at 45 facilities throughout Japan, and 80 cases were reported from 27 facilities. On the basis of the final diagnosis, 24 patients with Crohn's disease (CD) and 47 patients with ulcerative colitis (UC) were analyzed. Results Among the patients with CD, the age at onset was less than 1 year in 62.5%. On the basis of the Montreal classification, 87.5% of CD cases involved the colon, and 63.8% of UC cases were pancolitis. Coexisting conditions such as congenital diseases (five cases) and cerebral palsy (four cases) were present before the onset of IBD. Growth failure was more severe (P
- Published
- 2013
42. Determination of Total Energy Expenditure Using the Doubly labeled Water Method and Expired Gas Analysis in Short-stature Children
- Author
-
Shuichi Miyatani, Naoyuki Ebine, Yuri Etani, Yukiko Nishimoto, Shinobu Ida, and Satoshi Nakae
- Subjects
medicine.medical_specialty ,Endocrinology ,Animal science ,Total energy expenditure ,business.industry ,Internal medicine ,medicine ,Doubly labeled water ,General Medicine ,medicine.symptom ,Expired gas analysis ,business ,Short stature - Published
- 2013
43. Pediatric-onset Chronic Nonspecific Multiple Ulcers of Small Intestine: A Nationwide Survey and Genetic Study in Japan
- Author
-
Keiichi, Uchida, Atsushi, Nakajima, Kosuke, Ushijima, Shinobu, Ida, Yoshitaka, Seki, Fumihiko, Kakuta, Daiki, Abukawa, Hisayuki, Tsukahara, Shun-Ichi, Maisawa, Mikihiro, Inoue, Toshimitsu, Araki, Junji, Umeno, Takayuki, Matsumoto, and Tomoaki, Taguchi
- Subjects
Genetic Markers ,Male ,Adolescent ,Infant ,Organic Anion Transporters ,Health Surveys ,Diagnosis, Differential ,Intestinal Diseases ,Japan ,Child, Preschool ,Chronic Disease ,Intestine, Small ,Mutation ,Humans ,Female ,Child ,Ulcer ,Follow-Up Studies - Abstract
We performed a Japanese nationwide survey of pediatric-onset chronic nonspecific multiple ulcers of the small intestine between January 2000 and July 2013 in 176 institutions of pediatric surgery or pediatric gastroenterology and clarified the clinical features associated with genetic abnormalities in the Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) gene. A total of 4 cases (3 girls and 1 boy) were diagnosed in this series, which had to be differentiated from Crohn disease, Behçet disease, tuberculosis, or drug-induced enteropathy. Clinical symptoms appeared in infants and accurate diagnosis required several years. Medical therapies for inflammatory bowel disease were administered in all patients; however, 2 of the 4 patients had mutation in the SLCO2A1 gene which are responsible for primary hypertrophic osteoarthopathy, and underwent strictureplasty or ileal resection after long-term follow-up. Pediatric gastroenterologists should include this new entity in the differential diagnosis of small intestinal ulcers and inflammatory bowel disease.
- Published
- 2016
44. Resting energy expenditure in short-stature children
- Author
-
Shuichi Miyatani, Yukiko Nishimoto, Yuri Etani, and Shinobu Ida
- Subjects
Male ,medicine.medical_specialty ,Supine position ,Endocrinology, Diabetes and Metabolism ,Body size ,Short stature ,Energy requirement ,Endocrinology ,Animal science ,Internal medicine ,medicine ,Humans ,Resting energy expenditure ,Child ,Growth Disorders ,business.industry ,Dietary intake ,Calorimetry, Indirect ,Body Height ,Dietary Reference Intake ,Basal metabolic rate ,Body Composition ,Female ,medicine.symptom ,Energy Metabolism ,business - Abstract
It is not clear what dietary intake standards should be used for children with abnormal body size. To investigate the energy requirements of short-stature children with no underlying diseases, their resting energy requirements (REE) were measured by indirect calorimetry. The short-stature group consisted of 30 prepubertal children with short stature and with no underlying diseases (age 6y±2) and the control group consisted of 13 age-matched children with standard stature. Fasting REE and the respiration quotient (RQ) with subjects in the supine position were measured by canopy indirect calorimetry. Actual measurements and body-size-adjusted REEs were compared between the groups. Also, REE measurements were compared with the basal metabolic rate (BMR) calculated using the Dietary Reference Intakes for Japanese (Dietary Reference Intakes). REE in the control group was significantly higher than that in the short-stature group. However, body-size-adjusted REEs were significantly higher for the short-stature group. When the actual REE was compared with the calculated BMR within both the control group and the short-stature group, which was acquired using the Dietary Reference Intakes, there was no difference within the control group but the actual REE measurements were significantly higher than the calculated BMR in the short-stature group. The same pattern was seen within the short-stature group when subjects were matched for height. There were no significant differences in RQ between the two groups.
- Published
- 2012
45. Importance of evaluating for cow's milk allergy in pediatric surgical patients with functional bowel symptoms
- Author
-
Yuri Etani, Hisayoshi Kawahara, Akio Kubota, Koji Kawamoto, Kayo Ikeda, and Shinobu Ida
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Constipation ,Apnea ,Gastrointestinal Diseases ,Vomiting ,Intestinal Atresia ,Milk allergy ,Disease ,Lymphocyte Activation ,Catheterization ,Diagnosis, Differential ,Postoperative Complications ,Radioallergosorbent Test ,Animals ,Humans ,Medicine ,Hirschsprung Disease ,Diagnostic Errors ,Esophageal Atresia ,health care economics and organizations ,Retrospective Studies ,business.industry ,Infant, Newborn ,Retrospective cohort study ,General Medicine ,Immunoglobulin E ,Abdominal distension ,medicine.disease ,Institutional review board ,Infant Formula ,humanities ,Esophageal Achalasia ,Radiography ,Pediatrics, Perinatology and Child Health ,Cattle ,Female ,Surgery ,Milk Hypersensitivity ,medicine.symptom ,business ,Follow-Up Studies - Abstract
Background Cow's milk allergy (CMA) can cause functional bowel symptoms. This can lead to confusion and difficulty in managing pediatric surgical patients who also have CMA. We examined CMA's effect on the management of pediatric surgical patients in our institute. Methods With institutional review board approval, 14 pediatric surgical patients with CMA were reviewed. Cow's milk allergy was diagnosed according to clinical findings and stimulation index (normal range Results The main symptoms were abdominal distension (n = 10), vomiting (n = 6), constipation (n = 2), and apnea (n = 1). Stimulation index median value was 731% (range, 341%–2132%). Patients were divided into 3 groups. In group 1 (n = 8), persistent postoperative bowel symptoms were initially considered related to surgical diseases. Following CMA diagnosis, CM elimination therapy improved symptoms. In group 2 (n = 4), CMA was diagnosed concurrently with surgical disease, and elimination therapy was continued postoperatively. In group 3 (n = 2), the pathogenesis of bowel symptoms was initially attributed to CMA and later diagnosed as Hirschsprung's disease. Conclusions A high index of suspicion regarding the possibility of concurrent CMA may be necessary to manage bowel symptoms in pediatric surgical patients.
- Published
- 2011
46. Efficacy of pegylated interferon-α2a monotherapy in Japanese children with chronic hepatitis C
- Author
-
Tomoo Fujisawa, Yuri Etani, Ayano Inui, Koichi Ito, Tomoyuki Tsunoda, Shinobu Ida, Tokio Sugiura, Reiko Miyazawa, Yuki Kiyohara, and Ikuo Nagata
- Subjects
medicine.medical_specialty ,Alanine aminotransferase activity ,Hepatology ,business.industry ,Hepatitis C virus ,medicine.disease_cause ,Gastroenterology ,Virus ,Infectious Diseases ,Tolerability ,Chronic hepatitis ,Pegylated interferon ,Internal medicine ,PEG ratio ,Immunology ,Genotype ,Medicine ,business ,medicine.drug - Abstract
Aim: There is little information available on the efficacy of pegylated interferon (PEG IFN) therapy for children with chronic hepatitis C. The aim of this study was to evaluate the efficacy and tolerability of PEG IFN-α2a monotherapy for children infected by chronic hepatitis C virus (HCV). Methods: From 2004–2006, we conducted a prospective, open-label, multicenter study of 22 patients aged 4–18 years, including eight with genotype 1 and 14 with genotype 2. None had previously received IFN. The patients were treated with s.c. PEG IFN-α2a at a dose of 3 µg/kg once a week for 48 weeks. Rapid virological response (RVR) was defined as: undetectable serum HCV RNA at week 4; early viral response (EVR) as a 2 or more log reduction or undetectable serum HCV RNA at week 12; and sustained viral response (SVR) as undetectable serum HCV RNA at 24 weeks after the cessation of treatment. Results: SVR was achieved in 10 (45%) of the 22 patients (three with genotype 1, seven with genotype 2). Retrospectively, the patients with SVR included five with RVR (one with genotype 1, four with genotype 2) and five with EVR (two with genotype 1, three with genotype 2). PEG IFN-α2a monotherapy was well tolerated, except in one patient in whom alanine aminotransferase activity flared (>500 IU/L) during treatment. Conclusion: The efficacy of PEG IFN-α2a monotherapy in children is similar to that for adults, while tolerability seems to be better in children than in adults.
- Published
- 2011
47. Long-term outcome of ovotesticular disorder of sex development: A single center experience
- Author
-
Futoshi Matsui, Kenji Shimada, Masahiro Nakayama, Fumi Matsumoto, Toshihiko Itesako, Shinobu Ida, and Keigo Nara
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Urology ,Incidence (epidemiology) ,Medical record ,Ethnic group ,Retrospective cohort study ,medicine.disease ,Single Center ,True hermaphroditism ,Medicine ,Early childhood ,Lost to follow-up ,business - Abstract
Objectives: To describe the clinical features of children with ovotesticular disorder of sex development (DSD) and to review cases of ovotesticular DSD in Japan. Methods: Medical records of eight children diagnosed with ovotesticular DSD at our institute during the past 17 years were retrospectively evaluated. A review of 165 reported cases of ovotesticular DSD from Japanese institutions was carried out. Results: Mean follow up was 8.2 years for six children, with two children lost to follow up. Mean age at first presentation was 2.4 months. All children were Japanese. The most common initial manifestation was ambiguous genitalia. The female : male ratio as the sex of rearing was 1:1. Gender reassignment, from male to female, was carried out in one child at 4-months-old. Genital surgery was always carried out in early childhood as per family desire. Appropriate gonadal tissue was preserved except for one child. No gonadal tumors were detected during follow up. Spontaneous pubertal development occurred in one boy. In reviewing Japanese data, the frequency of testes was higher than in other ethnicities and this was related to the higher incidence of 46,XY. Conclusions: According to our experience, most families in Japan desire early genital surgery in the case of ovotesticular DSD. Chromosomal and gonadal distributions in patients with ovotesticular DSD differ between Japanese and other ethnic groups. Treatment for these patients needs to be provided after considering the cultural and social backgrounds of DSD in Japan.
- Published
- 2011
48. Severe arterial hypertension: a possible complication of McCune-Albright syndrome
- Author
-
Yasuhisa Ohata, Toshimi Michigami, Ikuko Mori, Keiichi Ozono, Shinobu Ida, Toru Kikuchi, Yasuo Imanishi, Kenichi Satomura, and Takehisa Yamamoto
- Subjects
musculoskeletal diseases ,medicine.medical_specialty ,Blood Pressure ,Fibrous Dysplasia, Polyostotic ,McCune–Albright syndrome ,Norepinephrine ,Dopamine ,Internal medicine ,medicine ,GNAS complex locus ,Humans ,Polyostotic fibrous dysplasia ,Child ,Radionuclide Imaging ,Pseudohypoparathyroidism ,Hormone activity ,biology ,business.industry ,Fibrous dysplasia ,medicine.disease ,Endocrinology ,Blood pressure ,Positron-Emission Tomography ,Hypertension ,Pediatrics, Perinatology and Child Health ,biology.protein ,Female ,business ,medicine.drug - Abstract
McCune-Albright syndrome is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous dysplasia. A somatic point mutation of Gsalpha protein leads to an increase in the Gsalpha-associated hormone activity in McCune-Albright syndrome. Because cyclic adenosine 3',5'-monophosphate stimulates the dopamine beta hydroxylase gene, an activating mutation of the Gsalpha protein may cause the hyperproduction of norepinephrine via dopamine. We report on a 9-year-old girl with McCune-Albright syndrome complicated by severe arterial hypertension. The urinary excretion of norepinephrine was 5- to 10-fold higher than in age-matched controls. Meta-iodobenzylguanidine scintigraphy and positron emission tomography/computed tomography (PET/CT) revealed no hot spots. These findings suggest that severe hypertension might be due to an activating mutation of Gsalpha protein in sympathetic ganglia. Because of the reported association of GNAS1 gene polymorphism with hypertension, our patient provides further evidence for a role of Gsalpha protein in hypertension.
- Published
- 2008
49. Effects of rikkunshito on the clinical symptoms and esophageal acid exposure in children with symptomatic gastroesophageal reflux
- Author
-
Hisayoshi Kawahara, Masahiro Fukuzawa, Takehisa Ueno, Toshimichi Hasegawa, Akio Kubota, Hiroomi Okuyama, and Shinobu Ida
- Subjects
medicine.medical_specialty ,Nausea ,Stridor ,Gastroenterology ,Esophagus ,Gastrointestinal Agents ,Internal medicine ,Pediatric surgery ,medicine ,Humans ,Nasogastric tubes ,medicine.diagnostic_test ,Gastric emptying ,business.industry ,Reflux ,General Medicine ,Hydrogen-Ion Concentration ,Anesthesia ,Pediatrics, Perinatology and Child Health ,Gastroesophageal Reflux ,Surgery ,medicine.symptom ,Gastrointestinal Motility ,Esophageal pH monitoring ,business ,Neurological impairment ,Drugs, Chinese Herbal - Abstract
Rikkunshito (TJ-43), a herbal medicine consisting of eight herbs, is used to treat chronic dyspepsia. Studies have shown that TJ-43 improves human gastric emptying. This study investigated the effects of TJ-43 on the clinical symptoms and esophageal acid exposure in children with symptomatic gastroesophageal reflux (GER). Eight children, aged from 2 months to 15 years (median age 4 years), were studied. Six of them had neurological impairment. TJ-43 (0.3 g/kg/day) was given orally or via nasogastric tubes in three divided doses before meals for 7 days. Their symptoms were frequent emesis in four, nausea in two, and hematemesis and stridor in one each. Twenty-four-hour esophageal pH monitoring was conducted using multichannel pH electrodes located at the distal esophagus (P1) and 10 cm proximal to P1 (P2). The clinical symptoms and esophageal pH were compared before and after TJ-43 therapy for 1 week. The frequency of emesis decreased in three patients. Other symptoms, including nausea, hematemesis, and stridor, were relieved in the remaining patients. Measured at the distal pH electrode, the percentage time of esophageal pH < 4.0 and the mean duration of reflux decreased significantly (P < 0.05). However, the number of acid reflux per hour did not change significantly, and no pH parameters measured at the proximal electrode differed significantly. The short-term administration of TJ-43 relieved symptoms and reduced the distal esophageal acid exposure through improved esophageal acid clearance.
- Published
- 2007
50. Pathological examination of the placenta in small for gestational age (SGA) children with or without postnatal catch-up growth
- Author
-
Nobuaki Mitsuda, Makiko Tachibana, Keiichi Ozono, Shinobu Ida, Masahiro Nakayama, Hiroyuki Kitajima, and Yoko Miyoshi
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Birth weight ,Placenta ,03 medical and health sciences ,0302 clinical medicine ,Child Development ,Pregnancy ,030225 pediatrics ,medicine ,Humans ,Pathological ,Retrospective Studies ,030219 obstetrics & reproductive medicine ,Obstetrics ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Retrospective cohort study ,medicine.disease ,medicine.anatomical_structure ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Infant, Small for Gestational Age ,Small for gestational age ,Female ,Abnormality ,business ,Villitis of unknown etiology - Abstract
Approximately 10% of small for gestational age (SGA) infants fail to catch up. The relationship between postnatal growth and placental pathology in SGA infants remains unclear. Our aim was to assess the involvement of placental pathology in postnatal growth of SGA infants.We retrospectively evaluated placental pathology and postnatal growth in single-pregnancy infants born after 37 gestational weeks in our institution, with both birth weight and length below -2 standard deviation scores (SDS) of the normal weight and length. "Catch-up" was defined as height reaching -2 SDS before the second birthday. Pathology of the placenta was classified into: abnormality due to maternal factors or fatal factors, villitis of unknown etiology (VUE), other abnormalities and no abnormality.Of the 33 084 infants, 142 met our criteria and 49 of them had analyzable data. The overall catch-up rate was 84%. Catch-up growth took place in all infants with no placental abnormality and only 57% of infants with abnormality due to fatal factors. There was no significant relationship between catch-up rate and other factors.Placental pathology is associated with postnatal growth in SGA children born at term. Placental abnormality due to fetal factors is related to poor catch-up rate.
- Published
- 2015
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.