cblb Gene Analysis in Japanese Type 1 Diabetes with Younger Age of Onset [0.03%]
年轻发病日本1型糖尿病患者CBLB基因分析
Junko Matsuda,Ichiro Yokota
Junko Matsuda
To clarify the contribution of Cblb to the development of type1 diabetes (T1D), we investigated Japanese younger-onset T1D patients. We sequenced the cblb gene in 10 T1D patients and screened the identified mutations in 109 Japanese T1D pat...
Yuriko Katsushima,Fumio Katsushima,Noriko Katsushima
Yuriko Katsushima
We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age re...
A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia [0.03%]
先天性脂质肾上腺肿大的日本患者的新型类固醇急性调节蛋白（StAR）基因突变
Katsura Ishizu,Junko Tsubaki,Wakako Jyo et al.
Katsura Ishizu et al.
A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene [0.03%]
一种新的无CASR基因突变的常染色体显性遗传低血钙症新生儿病例
Ichiro Miyata,Hideki Yoshikawa,Naokiyo Kurokawa et al.
Ichiro Miyata et al.
We experienced a case of familial hypoparathyroidism with an autosomal dominant pattern of transmission and performed molecular analysis of the calcium-sensing receptor (CASR) gene. The patient was a female neonate, born by cesarean section...
Prediction of pubertal growth at start of estrogen replacement therapy in turner syndrome [0.03%]
青春期开始雌激素替代治疗时特纳综合征生长的预测
Toshiaki Tanaka,Reiko Horikawa,Yasuhiro Naiki et al.
Toshiaki Tanaka et al.
In estrogen replacement therapy in Turner syndrome, there is no report which recommends the timing of the start of estrogen therapy in relation to height or adult height prediction. We have established a prediction model for pubertal growth...
Evaluation of the Use of PenNeedle(®) 32G Taper in Children being Treated with Growth Hormone [0.03%]
评估PenNeedle(®)32G锥形针在生长激素治疗儿童中的使用效果
Shinobu Ida,Norikazu Yoshimura,Mariko Nakacho et al.
Shinobu Ida et al.
Pain resulting from needle injection is a serious problem for patients that self-administer medication at home. We studied impressions of needle use by comparing PenNeedle® 32G Taper (NovoFine® 32G Tip), developed to reduce the sense of f...
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation [0.03%]
34例无PTPN11突变诺南综合征患者的KRAS分析
Kaoru Yamamoto,Rie Yoshida,Tsutomu Ogata
Kaoru Yamamoto
Growth failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction [0.03%]
限钠期间先天性肾性尿崩症婴儿生长不良的一例报告
Goro Sasaki,Tomohiro Ishii,Naoko Amano et al.
Goro Sasaki et al.
Congenital nephrogenic diabetes insipidus (CNDI) is an inherited disorder characterized by renal tubular insensitivity to antidiuretic hormone, resulting in an inability to concentrate urine. We report on an infant boy with CNDI who showed ...
Rajesh Khadgawat,Ravinder Goswami,Nandita Gupta et al.
Rajesh Khadgawat et al.
We report vitamin D toxicity in an infant following consecutive administration use of a large dose of vitamin D, causing symptomatic hypercalcemia, which was successfully managed with injectable calcitonin. However, the child developed bila...
Tsutomu Ogata,Toshiaki Tanaka,Masayo Kagami
Tsutomu Ogata
In 1990, we proposed the equations to calculate target height (TH) and target range (TR) for Japanese, taking account of the positive height secular trend observed over the last ∼100 years. However, height difference between generations ap...