Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis [0.03%]
采用外周淋巴细胞G带核型分析诊断混合性生殖腺发育不全的局限性
Ikuko Takahashi,Junko Miyamoto,Yukihiro Hasegawa
Ikuko Takahashi
Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with periphe...
Beneficial Effect of Oral Bisphosphonate Treatment on Bone Loss Induced by Chronic Administration of Furosemide without Alteration of Its Administration and Urinary Calcium Loss [0.03%]
口服双磷酸盐治疗对呋塞米所致骨丢失的有益作用而不改变其用药量及尿钙丢失
Takuo Kubota,Noriyuki Namba,Shunji Kurotobi et al.
Takuo Kubota et al.
Bisphosphonate is widely used to treat patients with primary and secondary osteoporosis. The chronic administration of furosemide is considered a risk factor for osteoporosis mainly due to the increased urinary excretion of calcium, leading...
Junji Takaya,Masayuki Teraguchi,Yumiko Ikemoto et al.
Junji Takaya et al.
We report the case of a 7-yr-old girl with Turner syndrome, ulcerative colitis (UC) and coarctation of the aorta. The diagnosis of Turner syndrome was made in early infancy (karyotype analysis 45, X). Growth hormone treatment was started at...
Dose Adjustments of Hydrocortisone and L-thyroxine in Hypopituitarism Associated with Cholestasis [0.03%]
肝外胆汁淤积伴垂体功能减退的氢化可的松和左旋甲状腺素剂量调整研究
Asako Higuchi,Yukihiro Hasegawa
Asako Higuchi
A patient with congenital hypopituitarism associated with cholestasis is reported here. Large doses of fat-soluble hormones (hydrocortisone (20 mg/m(2)/day) and L-thyroxine (14 μg/kg/day)) were needed to resolve hypoglycemia and hypothyroi...
Toshihiro Tajima,Yutaka Sawamura,Katsura Ishizu et al.
Toshihiro Tajima et al.
We report the cases of two Japanese children with cystic pituitary enlargement on magnetic resonance imaging (MRI) causing central diabetes insipidus (DI). In the first patient, endocrinological examination demonstrated slightly impaired gr...
Standardization of blood growth hormone levels measured by different kits using a linear structural relationship [0.03%]
利用线性结构关系法对不同试剂盒检测的血清生长激素水平进行标准化测定
Tomohiro Saito,Katsuhiko Tachibana,Akira Shimatsu et al.
Tomohiro Saito et al.
Accurate and reliable determination of blood growth hormone level is essential in the diagnosis and treatment of short stature children. However, measured levels differed considerably among measurement kits available in Japan until 2003. Th...
Relatively small birth size and accelerated early growth of Japanese type 1 diabetic children with younger onset [0.03%]
较小的出生体型和日本早发型1型糖尿病患儿过快生长模式之间的关系
Yumiko Kotani,Ichiro Yokota,Shoji Kagami et al.
Yumiko Kotani et al.
We investigated the changes of anthropometrical parameters in Japanese children with type 1 diabetes (T1DM) from birth to the onset of diabetes. One-hundred ninety-nine children (79 males and 120 females) diagnosed between 0-16 yr of age du...
G-protein Stimulatory α Subunit Is Involved in Osteogenic Activity in Osteoblastic Cell Line SaOS-2 Cells [0.03%]
Gs蛋白刺激型α亚基参与成骨细胞样细胞系SaOS-2的成骨活性
Miwa Yamazaki,Akira Suzuki,Keiichi Ozono et al.
Miwa Yamazaki et al.
In an attempt to study the roles of G-protein stimulatory subunit α (Gsα) in osteoblasts, we introduced an expression vector encoding Gsα into human osteoblastic cell line SaOS-2, and established the clones stably overexpressing Gsα (Sa...
Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature [0.03%]
个体不明原因矮小症中FGFR3基因突变的分布规律
Mitsukazu Mamada,Tohru Yorifuji,Keiji Kurokawa et al.
Mitsukazu Mamada et al.
FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much mild...
A Case Report of Turner Syndrome with Graves' Disease during Recombinant Human GH Therapy and Review of Literature [0.03%]
重组人生长激素治疗Turner综合征合并Graves病一例及文献复习
Makio Nakagawa,Yasuji Inamo,Kensuke Harada
Makio Nakagawa
An increased incidence of Hashimoto thyroiditis has been reported in patients with Turner syndrome, but several cases of Graves' disease were also described ten to 20 years ago. We report the case of a patient with Turner syndrome who devel...