The Relationship between Preheparin Lipoprotein Lipase and Metabolic Derangements in Obese Japanese Children [0.03%]
肥胖日本儿童脂蛋白脂肪酶与代谢紊乱的关系
Yuki Abe,Toru Kikuchi,Keisuke Nagasaki et al.
Yuki Abe et al.
The aim of this study was to clarify the relationship between preheparin lipoprotein lipase (LPL) and derangements of metabolic status in obese Japanese children. We examined 102 obese children (55 boys and 47 girls; mean age 10.9 yr). Anth...
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism [0.03%]
II型粘脂贮积病患儿骨转换增加；未伴有甲状旁腺功能亢进
Takanobu Otomo,Takehisa Yamamoto,Yasuhiro Fujikawa et al.
Takanobu Otomo et al.
This present report concerns an infantile patient with mucolipidosis II, who showed transient cortical bone hyperostosis followed by severe osteopenia. The diagnosis of mucolipidosis II was made based on the leakage of lysosomal enzymes in ...
Shigeo Morimoto,Tatsuhiko Urakami
Shigeo Morimoto
We examined whether non-obese Japanese children without diabetes exhibited insulin resistance during puberty. The study subjects were 201 Japanese school students, consisting 95 males and 106 females, aged 11.5 ± 2.6 yr. None of the subjec...
Congenital adrenal hyperplasia and brain magnetic resonance imaging abnormalities [0.03%]
先天性肾上腺增生与大脑磁共振异常
Younes-Mhenni Samia,Kamoun Mahdi,Zantour Baha et al.
Younes-Mhenni Samia et al.
A 15-yr-old male patient with congenital adrenal hyperplasia (CAH) was referred to our department with a one year history of gradual worsening of tremors. He was diagnosed with salt-wasting 21-hydroxylase deficiency CAH at 40 d old and was ...
Initial Treatment of Pediatric Graves' Disease with Methimazole: A Retrospective Follow-up Study [0.03%]
硫脲类治疗儿童Graves病的初步疗效分析回顾性研究
Rie Matsushita,Yuichi Nakagawa,Eiko Nagata et al.
Rie Matsushita et al.
Antithyroid drugs are widely used in the therapy of Graves' disease (GD), and methimazole (MMI) is preferred for treatment of pediatric GD. The recommended initial dosage of MMI is 0.5-1.0 mg/kg/d for pediatric GD, although there are few st...
One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction [0.03%]
一个与抵抗素激素有关的新基因及两个反复出现的THRB突变：基于结构的计算性突变预测
Satoshi Narumi,Hideo Cho,Izumi Tamada et al.
Satoshi Narumi et al.
Inactivating mutations of THRB, which encodes the thyroid hormone receptor β (TRβ), cause resistance to thyroid hormone (RTH; OMIM 190160). To date, more than 100 THRB mutations have been reported among RTH patients. Most mutations substi...
Epidemiological studies of the developmental origins of adult health and disease in Japan: a pediatric perspective in present day Japan [0.03%]
日本儿童健康与疾病成人发病起源的流行病学研究：当今日本儿科医生的观点
Toru Kikuchi,Makoto Uchiyama
Toru Kikuchi
The origins of adult disease are considered to relate to fetal undernutrition, and this concept is termed "developmental origins of adult health and disease" (DOHaD). Here, we describe several epidemiological studies performed in Japan and ...
Proposal of new auxological standards for Japanese girls with turner syndrome [0.03%]
日本特纳综合征女孩新的生长标准的提出
Tsuyoshi Isojima,Susumu Yokoya,Junko Ito et al.
Tsuyoshi Isojima et al.
We recently published new reference growth charts for Japanese girls with Turner syndrome (TS) based on the cross-sectional data of 1,447 subjects beyond the secular trend of growth in Japan. This study was undertaken for their validation a...
Adult heights of 258 girls with turner syndrome on low dose of growth hormone therapy in Japan [0.03%]
日本低剂量生长激素治疗的258例特纳综合征患者的成人身高
Keinosuke Fujita,Susumu Yokoya,Kenji Fujieda et al.
Keinosuke Fujita et al.
Growth hormone (GH) therapy was approved in 1999 for only GH-deficient Turner syndrome (TS) in Japan. It was subsequently approved for all cases of TS regardless of GH secretory status since 1999. The dose of GH is 1.0 u (0.35 mg)/kg/wk at ...
A case report of dysosteosclerosis observed from the prenatal period [0.03%]
胎儿期发育性骨 sclerosis 的一例报道
Kisho Kobayashi,Yusuke Goto,Hiroaki Kise et al.
Kisho Kobayashi et al.
Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of osteopetrosis. The disorder is associated with dental anomalies and occasionally mental retardation. Because of the rarity and phenotypic diversity o...