Clinical Trial of Four Weeks of Combination Therapy with Low-dose Methimazole and a Cholesterol Absorption Inhibitor as the Initial Treatment for Childhood-onset Graves' Disease [0.03%]
小剂量甲巯咪唑联合降胆固醇药物作为儿童Graves病初治的一线方案：4周临床疗效观察
Satoshi Takakuwa,Yoko Kina
Satoshi Takakuwa
The initial treatment of childhood-onset Graves' disease is based on the result of clinical trials of adult-onset disease. The major adverse events associated with methimazole, the only medication approved for childhood-onset disease in Jap...
Therapeutic use of oral sodium phosphate (phosribbon(®) combination granules) in hereditary hypophosphatemic rickets [0.03%]
口服钠磷化物（Phosribbon(®)复合颗粒）治疗遗传性低磷酸酶性佝偻病的疗效
Keiichi Ozono,Yukihiro Hasegawa,Masanori Minagawa et al.
Keiichi Ozono et al.
Oral sodium phosphate formulations indicated for hypophosphatemia are commercially available worldwide. In Japan, however, many medical institutes have used hospital dispensary or foreign over-the-counter formulations because no such medica...
Toshimi Michigami
Toshimi Michigami
Endochondral bone formation involves multiple steps, consisting of the condensation of undifferentiated mesenchymal cells, proliferation and hypertrophic differentiation of chondrocytes, and then mineralization. To date, various factors inc...
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome [0.03%]
艾伦-赫南德-戴利综合征日本患者SLC16A2基因MCT8编码的新缺失突变
Sayaka Yamamoto,Koji Okuhara,Hidefumi Tonoki et al.
Sayaka Yamamoto et al.
Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high seru...
Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia [0.03%]
先天性肾上腺皮质增生症新生儿脑白质异常
Akimune Kaga,Akiko Saito-Hakoda,Mitsugu Uematsu et al.
Akimune Kaga et al.
Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been cla...
A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia [0.03%]
无碱性磷酸酶升高的低磷血症性维生素D缺乏病一例报告
Kumihiro Matsuo,Tokuo Mukai,Akiko Furuya et al.
Kumihiro Matsuo et al.
Elevated serum alkaline phosphatase (ALP) is a screening marker for the diagnosis of vitamin D deficiency, which may fail to be diagnosed if serum ALP is not elevated. Here, we describe a case of vitamin D deficiency without elevation of se...
Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency [0.03%]
生长激素治疗吉兰-巴雷综合征儿童的疗效和安全性
Kyoko Meguri,Masaru Inoue,Koji Narahara et al.
Kyoko Meguri et al.
In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9...
Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy [0.03%]
造血干细胞移植后5名儿童出现不良脂代谢分布：获得性部分脂营养不良的新病因
Masanori Adachi,Yumi Asakura,Koji Muroya et al.
Masanori Adachi et al.
We report five consecutive patients who underwent hematopoietic stem cell transplantation (HSCT) to treat leukemia or neuroblastoma early in their lives and later manifested abnormal patterns of adipose tissue distribution. Lipoatrophy was ...
Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome) [0.03%]
唐氏病（勒帕琴努综合征）患者内膜癌发病1例报告
Wakako Jo,Satoko Sudo,Akie Nakamura et al.
Wakako Jo et al.
Leprechaunism is a rare autosomal recessive disease that is characterized by severe insulin resistance. This disease is caused by a defective insulin receptor and features abnormal glucose metabolism and retarded intrauterine and postnatal ...
Assessment of Psychosocial Status among Short-stature Children with and without Growth Hormone Therapy and Their Parents [0.03%]
生长激素治疗对孩子及其父母的心理社会状态的影响评估研究——一个横断面调查
Yasuhiro Naiki,Reiko Horikawa,Toshiaki Tanaka;Child Health and Development Network
Yasuhiro Naiki
To evaluate the psychosocial status of short children with and without growth hormone therapy (GHT) and that of their parents, self-administered questionnaires were collected from patients and parents who regularly visit the outpatient clin...