Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations [0.03%]
LHX4和OTX2基因突变患者的临床表型及分子机制研究
Toshihiro Tajima,Katsura Ishizu,Akie Nakamura
Toshihiro Tajima
The pituitary gland produces hormones that play important roles in both the development and homeostasis of the body. Ontogeny of the anterior and posterior pituitary is orchestrated by inputs from neighboring tissues, cellular signaling mol...
Association between graves' disease and renal coloboma syndrome: a case report [0.03%]
一个与 Graves 病相关的肾缺损综合征病例报告
Takeshi Sato,Koji Muroya,Junko Hanakawa et al.
Takeshi Sato et al.
Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves' disease. Four affected...
A case of graves' disease diagnosed in the course of bilateral carotid artery stenoses (moyamoya disease); a case report and review of the literature [0.03%]
moyamoya病所致双侧颈动脉狭窄伴graves病1例报告及文献复习
Hotaka Kamasaki,Takako Takeuchi,Takeshi Mikami et al.
Hotaka Kamasaki et al.
A 14-year-old boy was admitted to our hospital after being diagnosed at a local clinic with bilateral carotid artery stenoses (Moyamoya disease) and mild thyrotoxicosis. A blood examination showed suppressed TSH and elevated triiodothyronin...
Treatment of Hypophosphatemic Rickets with Phosphate and Active Vitamin D in Japan: A Questionnaire-based Survey [0.03%]
日本低磷血症佝偻病的治疗现状（一项基于问卷的研究）
Makoto Fujiwara,Noriyuki Namba,Keiichi Ozono et al.
Makoto Fujiwara et al.
Hereditary hypophosphatemic rickets represented by X-linked hypophosphatemic rickets (XLH) is a rare disorder characterized by hypophosphatemia, elevated alkaline phosphatase (ALP) and undermineralization of bone. Active vitamin D and phosp...
Tatsuhiko Urakami,Remi Kuwabara,Masako Habu et al.
Tatsuhiko Urakami et al.
We treated 80 obese and 28 nonobese children diagnosed as having type 2 diabetes mellitus (T2DM). Among these patients, 26 obese and 23 nonobese children were assigned to pharmacologic therapies during the course of diabetes. Pharmacologic ...
Partially reversible hypopituitarism in an adolescent with a rathke cleft cyst [0.03%]
鞍隔囊肿患者的青少年期部分可逆性垂体功能减退症
Carla Bizzarri,Romana Marini,Graziamaria Ubertini et al.
Carla Bizzarri et al.
Rathke cleft cysts are remnants of the Rathke pouch. Most of them are asymptomatic, but sometimes they can grow enough to cause compression of structures within and/or close to the sella, thus eliciting symptoms such as visual disturbance, ...
A case series of five sri lankan patients with ovotesticular disorder of sex development [0.03%]
五个患有卵睾性性别发育障碍的斯里兰卡患者的病例系列分析
Kalum T Wettasinghe,Nirmala D Sirisena,Prabha H Andraweera et al.
Kalum T Wettasinghe et al.
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation in which the gonads of an individual are characterized by the presence of both mature ovarian and testicular tissues. The objective of this pape...
Efficacy and Safety of Up to 8 Years of Long-term Growth Hormone Treatment in Short Children Born Small for Gestational Age in Japan: Analysis of the Subpopulation According to the Japanese Guideline [0.03%]
日本SGA儿童长期内源性生长激素缺乏的疗效和安全性：根据日本指南分析特定亚群（长达8年的随访）
Toshiaki Tanaka,Susumu Yokoya,Kenji Fujieda et al.
Toshiaki Tanaka et al.
The efficacy and safety of 8 yr of GH treatment was assessed in 44 Japanese children with small for gestational age (SGA) short stature who met the criteria for GH treatment initiation (height SD score (SDS)
A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5) [0.03%]
HNF1B新型突变导致的成人晚发性糖尿病5型(MODY5)一例
Wakako Jo,Hitomi Sano,Akira Sudo et al.
Wakako Jo et al.
Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation [0.03%]
纳特格利奈对复合杂合ABCC8突变所致儿童反应性低血糖糖尿病有效
Akiko Saito-Hakoda,Tohru Yorifuji,Junko Kanno et al.
Akiko Saito-Hakoda et al.
ABCC8 encodes the sulfonylurea receptor 1 (SUR1) subunits of the beta-cell ATP-sensitive potassium (K-ATP) channel playing a critical role in the regulation of insulin secretion, and inactivating mutations in ABCC8 cause congenital hyperins...