Clinical Pediatric Endocrinology最新文献_第9页

Neonatal mass screening for 21-hydroxylase deficiency 新生儿21-羟化酶缺乏症的大规模筛查

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2016-01-01 DOI: 10.1297/cpe.25.1

T. Tajima, M. Fukushi

引用次数: 16

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone 日本甲状腺激素抗性家族THRB基因的新突变

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2016-01-01 DOI: 10.1297/cpe.25.19

J. Ito, S. Narumi, K. Nishizawa, T. Kamimaki, N. Hori, T. Hasegawa

引用次数: 3

The factors affecting on estimation of carbohydrate content of meals in carbohydrate counting. 在碳水化合物计数中，影响膳食碳水化合物含量估算的因素。

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-10-01 Epub Date: 2015-10-24 DOI: 10.1297/cpe.24.153

Tomoyuki Kawamura, Chihiro Takamura, Masakazu Hirose, Tomomi Hashimoto, Takashi Higashide, Yoneo Kashihara, Kayako Hashimura, Haruo Shintaku

{"title":"The factors affecting on estimation of carbohydrate content of meals in carbohydrate counting.","authors":"Tomoyuki Kawamura, Chihiro Takamura, Masakazu Hirose, Tomomi Hashimoto, Takashi Higashide, Yoneo Kashihara, Kayako Hashimura, Haruo Shintaku","doi":"10.1297/cpe.24.153","DOIUrl":"10.1297/cpe.24.153","url":null,"abstract":"<p><p>The objective of this study was to identify factors affecting on errors in carbohydrate (CHO) content estimation during CHO counting. Thirty-seven type 1 diabetes patients and 22 of their parents and 28 physicians/dieticians were enrolled in this study. CHO counting was counted in \"Carb\", with 1 Carb defined as 10 g of CHO. To evaluate the accuracy of CHO counting, 80 real-size photographs of cooked meals were presented to the subjects for Carb estimation. Carbs tended to be overestimated for foods containing relatively small amounts of Carbs. On the other hands, Carbs tended to be underestimated for foods with higher than 6 Carbs. Accurate estimation of the Carbs in food containing a large amount of rice was particularly difficult even in the subjects having the CHO counting experience. The Carb contents of high-calorie foods such as meats, fried foods, and desserts tended to be overestimated. This error was smaller in subjects having the CHO counting experience. In conclusion, misunderstanding of high-calorie dishes containing high amounts of CHO was observed in inexperienced subjects, indicating the efficacy of the current methodology of CHO counting. On the other hand it was difficult even for experienced subjects to assess the amount of seasoned rice, suggesting the need for a new methodology for accurate estimation. </p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"153-65"},"PeriodicalIF":1.4,"publicationDate":"2015-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Age at menarche and near final height after treatment with gonadotropin-releasing hormone agonist alone or combined with growth hormone in Korean girls with central precocious puberty 韩国中枢性性性早熟女孩单独或联合使用促性腺激素释放激素激动剂治疗后初潮年龄和接近最终身高

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.175

YunHee Gyon, Yeong Ju Yun, Yong-Dae Kim, H. Han

{"title":"Age at menarche and near final height after treatment with gonadotropin-releasing hormone agonist alone or combined with growth hormone in Korean girls with central precocious puberty","authors":"YunHee Gyon, Yeong Ju Yun, Yong-Dae Kim, H. Han","doi":"10.1297/cpe.24.175","DOIUrl":"https://doi.org/10.1297/cpe.24.175","url":null,"abstract":"Abstract. The use of a GnRH agonist (GnRHa) in central precocious puberty (CPP) is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss caused by advanced skeletal maturation. But enhancing the final height has been so controversial that an additional approach has been used. We investigated the menarcheal age and near final height (NFH) in girls with CPP treated with GnRHa (N = 61) or GnRHa combined GH (N = 24). GnRHa was started at 8.1 ± 0.7 yr and administered for 2.1 ± 1.0 years. GH was used for 2.1 ± 1.1 yr in subjects with a short predicted adult height (PAH). Menarche occurred at 11.6 ± 0.8 yr of age, which was 15.7 ± 6.4 mo after GnRHa discontinuation. PAH increased significantly from 152.0 ± 7.2 cm to 158.8 ± 5.6 cm during treatment, and the NFH (159.7 ± 4.8 cm) was taller than the midparental height (157.8 ± 3.4 cm). The combined treatment group showed a greater height increment during treatment. Younger age, taller height at the start of treatment, taller parental height and longer duration of treatment were the factors influencing NFH. In conclusion, GnRHa treatment in girls with CPP could improve NFH and delay menarche close to the general population. If GnRHa combined with GH is used in girls with CPP and a short midparental height, it would improve the NFH to a value similar to that in the general population.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"175 - 183"},"PeriodicalIF":1.4,"publicationDate":"2015-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.175","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan 日本特纳综合征患者自发性乳房发育和自发性月经初潮的频率

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.167

Toshiaki Tanaka, Y. Igarashi, K. Ozono, K. Ohyama, M. Ogawa, H. Osada, K. Onigata, S. Kanzaki, H. Kohno, Y. Seino, Hiroaki Takahashi, T. Tajima, K. Tachibana, Hiroyuki Tanaka, Y. Nishi, T. Hasegawa, K. Fujita, T. Yorifuji, R. Horikawa, S. Yokoya

{"title":"Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan","authors":"Toshiaki Tanaka, Y. Igarashi, K. Ozono, K. Ohyama, M. Ogawa, H. Osada, K. Onigata, S. Kanzaki, H. Kohno, Y. Seino, Hiroaki Takahashi, T. Tajima, K. Tachibana, Hiroyuki Tanaka, Y. Nishi, T. Hasegawa, K. Fujita, T. Yorifuji, R. Horikawa, S. Yokoya","doi":"10.1297/cpe.24.167","DOIUrl":"https://doi.org/10.1297/cpe.24.167","url":null,"abstract":"Abstract. The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"167 - 173"},"PeriodicalIF":1.4,"publicationDate":"2015-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.167","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 40

Bone age: assessment methods and clinical applications 骨龄:评估方法及临床应用

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.143

M. Satoh

{"title":"Bone age: assessment methods and clinical applications","authors":"M. Satoh","doi":"10.1297/cpe.24.143","DOIUrl":"https://doi.org/10.1297/cpe.24.143","url":null,"abstract":"Abstract. The main bone age assessment methods are the Greulich-Pyle and Tanner-Whitehouse 2 methods, both of which involve left hand and wrist radiographs. Several other bone age assessment methods have been developed, including ultrasonographic, computerized, and magnetic resonance (MR) imaging methods. The ultrasonographic method appears unreliable in children with delayed and advanced bone age. MR imaging is noninvasive; however, bone age assessment using MR imaging is relatively new, and further examinations are needed. An automated method for determining bone age, named BoneXpert, has been validated for Caucasian children with growth disorders and children of various ethnic groups. Sex hormones are necessary for bone growth and maturation in children with a bone age corresponding to normal pubertal age, and estrogen is essential for growth plate closure. Bone age is an effective indicator for diagnosing and treating various diseases. A new method for adult height prediction based on bone age has been developed using BoneXpert, in addition to the commonly used Bayley-Pinneau and Tanner-Whitehouse mark II methods. Furthermore, bone age may become a predictor for the timing of peak height velocity and menarche.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"143 - 152"},"PeriodicalIF":1.4,"publicationDate":"2015-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.143","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 122

An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene 青春期家族性甲状旁腺功能亢进伴CDC73基因种系移码突变1例

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.185

Takako Takeuchi, Y. Yoto, T. Tsugawa, H. Kamasaki, A. Kondo, J. Ogino, T. Hasegawa, N. Yama, Sawa Anan, S. Uchino, A. Ishikawa, A. Sakurai, H. Tsutsumi

引用次数: 4

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide 1例日本新生儿糖尿病患者，由ABCC8基因突变引起，口服格列本脲成功控制

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-10-01 DOI: 10.1297/cpe.24.191

Ryojun Takeda, M. Takagi, K. Miyai, Hiroyuki Shinohara, H. Yagi, M. Moritani, I. Yokota, Y. Hasegawa

引用次数: 6

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision) 先天性甲状腺功能减退症大规模筛查指南(2014年修订版)

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-07-01 DOI: 10.1297/cpe.24.107

K. Nagasaki, K. Minamitani, M. Anzo, M. Adachi, T. Ishii, K. Onigata, S. Kusuda, S. Harada, R. Horikawa, M. Minagawa, H. Mizuno, Y. Yamakami, M. Fukushi, T. Tajima

{"title":"Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)","authors":"K. Nagasaki, K. Minamitani, M. Anzo, M. Adachi, T. Ishii, K. Onigata, S. Kusuda, S. Harada, R. Horikawa, M. Minagawa, H. Mizuno, Y. Yamakami, M. Fukushi, T. Tajima","doi":"10.1297/cpe.24.107","DOIUrl":"https://doi.org/10.1297/cpe.24.107","url":null,"abstract":"Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"107 - 133"},"PeriodicalIF":1.4,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 41

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2 一种新的基因内缺失TRAPPC2导致迟发性脊柱骨骺发育不良1例

IF 1.4

Clinical Pediatric Endocrinology Pub Date : 2015-07-01 DOI: 10.1297/cpe.24.139

M. Takagi, H. Yagi, Yoshie Nakamura, Hiroyuki Shinohara, Ryojun Takeda, A. Shimada, G. Nishimura, Y. Hasegawa

{"title":"A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2","authors":"M. Takagi, H. Yagi, Yoshie Nakamura, Hiroyuki Shinohara, Ryojun Takeda, A. Shimada, G. Nishimura, Y. Hasegawa","doi":"10.1297/cpe.24.139","DOIUrl":"https://doi.org/10.1297/cpe.24.139","url":null,"abstract":"Spondyloepiphyseal dysplasia tarda (SEDT; MIM # 313400) is a rare X-linked recessive skeletal disease characterized by disproportionate short stature with vertebral malformation and degenerative changes involving the spine and major joints (1). During infancy and early childhood, affected males show normal development and unremarkable findings on radiographs (1). Clinical expression of SEDT begins with a flattening of the growth curve before puberty. At this time, radiographs show characteristic deformities of the vertebrae, including platyspondyly with a posterior hump. Degenerative joint disease is a common problem in male patients making hip joint replacement often necessary in the fourth or fifth decade of life (2). \u0000 \u0000The causative gene of SEDT is TRAPPC2, which encodes trafficking protein particle complex subunit 2, a 140 amino acid protein, also known as Sedlin. TRAPPC2 may play a role in vesicular transport from the endoplasmic reticulum to the Golgi (3, 4). To date, 50 TRAPPC2 mutations have been reported in families with SEDT of different ethnic origin (Human Gene Mutation Database; http://www.hgmd.cf.ac.uk/ac). The underlying mutations are spread over the entire coding region of the TRAPPC2 gene comprising exons 3-6, without clear genotype-phenotype correlation. Here, we report a Japanese SEDT patient with a novel intragenic deletion mutation in TRAPPC2.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"139 - 141"},"PeriodicalIF":1.4,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2