A Case of a Preterm Infant with 21-Hydroxylase Deficiency: Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM) [0.03%]
一名先天性肾上腺皮质增生症早产儿患者的病例报告：尿液孕三醇龙胆亭气相色谱/质谱法（选择反应监测）生化诊断的意义
Takashi Hamajima,Shigeru Ohki,Hiroki Imamine et al.
Takashi Hamajima et al.
The biochemical diagnosis of 21-hydroxylase deficiency (21-OHD) is difficult in preterm infants. To date, no marker for the biochemical diagnosis of 21-OHD has been found. Seventeen α-hydroxyprogesterone (17-OHP), is not useful because of ...
Keisuke Nagasaki,Reiko Horikawa,Kazuo Fujisawa et al.
Keisuke Nagasaki et al.
Female pseudohermaphroditism is caused by several etiologies. Here we report a case of aromatase deficiency who showed ambiguous genitalia and maternal virilization during pregnancy. The mother had noticed her own virilization from 16 wk of...
The levels of serum low-density lipoprotein cholesterol using direct measurement in healthy Japanese school children [0.03%]
健康日本学童血清低密度脂蛋白胆固醇直接测定水平
Yohei Ogawa,Makoto Hiura,Toru Kikuchi et al.
Yohei Ogawa et al.
This study aimed to investigate the levels of serum low-density lipoprotein cholesterol (LDLC) using direct measurement in healthy Japanese school children. The subjects were 621 children (325 boys and 296 girls) aged 9 to 10 in the 4th gra...
Yasusada Kawada,Hidemasa Hayashibe,Kohtaro Asayama et al.
Yasusada Kawada et al.
The present study was designed to determine the plasma level of orexin and its relationship with other metabolic and anthropometric markers in obese children. Forty-seven obese Japanese children, consisting of 31 boys and 16 girls, were enr...
A Novel Missense Mutation in the Thyroid Peroxidase Gene, R175Q, Resulting in Insufficient Cell Surface Enzyme in Two Siblings [0.03%]
甲状腺过氧化物酶基因错义突变R175Q导致两名患者细胞表面酶不足的原因分析
Tomio Kotani,Kazumi Umeki,Jun-Ichi Kawano et al.
Tomio Kotani et al.
Thyroid peroxidase (TPO) abnormality is one of the causes of congenital hypothyroidism. Two missense mutations were found as a compound heterozygous mutation in two siblings with congenital goitrous hypothyroidism. One of these mutations, G...
The long-term effect of replacement therapy in a short girl with autoimmune atrophic thyroiditis of prepubertal onset [0.03%]
青春期前发病的自身免疫性萎缩性甲状腺炎矮小女童替代治疗的长期疗效分析
Jiro Kagawa,Isao Asakura,Nobuyasu Shimizu et al.
Jiro Kagawa et al.
A 9 yr 11 mo old girl was admitted to our hospital because of short stature. Her growth rate gradually decreased and her height was 120 cm (-2.5 SD) on admission. The mother's and father's heights were 157 cm (-0.2 SD) and 163 cm (-1.3 SD),...
Virilizing Adrenocortical Carcinoma Invading the Right Atrium with Histological High-Grade Malignancy and p53 Mutation in a 3-Year-Old Child: Indication of Post Operative Adjuvant Chemotherapy [0.03%]
侵及右心房的组蛋白H3K27M突变型弥漫内生性脑桥胶质瘤临床特征与预后分析
Keisuke Nagasaki,Reiko Horikawa,Jun-Ichi Nagaishi et al.
Keisuke Nagasaki et al.
We present a 3-yr-old girl with a virilizing adrenocortical carcinoma invading into the right atrium with histological high-grade malignancy and p53 mutation. Development of facial acne and pubic hair were noted at 3 yr and 2 mo. The levels...
Hormonal and genetical assessment of a Japanese girl with weaver syndrome [0.03%]
日本Weaver综合征女孩的激素和基因学检查结果报告
Yoko Miyoshi,Masako Taniike,Ikuko Mohri et al.
Yoko Miyoshi et al.
We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones ...
Poor response to substitution therapy with cortisone acetate in patients with congenital adrenal hyperplasia [0.03%]
醋酸可的松替代治疗先天性肾上腺增生患者效果不佳
Hiroshi Inada,Takuji Imamura,Ryoichi Nakajima et al.
Hiroshi Inada et al.
Although cortisone acetate is approved worldwide as corticosteroid substitution therapy in congenital adrenal hyperplasia (21-hydroxylase deficiency), its effectiveness is uncertain since its biologic activity depends on activation by 11β-...
High density lipoprotein particle size in children: relation to atherogenic dyslipidemia [0.03%]
儿童高密度脂蛋白颗粒大小与动脉粥样硬化血脂异常的关系
Michio Numata
Michio Numata
Atherosclerosis begins in childhood. Protection from atherosclerosis is provided by high-density lipoprotein (HDL), a heterogeneous particle, which includes several subclasses differing in size, density and apolipoprotein content. The objec...