Efficacy and safety of GH treatment in Japanese children with short stature due to SHOX deficiency: a randomized phase 3 study [0.03%]
生长激素治疗日本青少年因SHOX缺乏所致矮身材的疗效和安全性III期临床试验
Tsutomu Ogata,Maki Fukami,Kazunori Tanizawa et al.
Tsutomu Ogata et al.
We conducted a randomized phase 3 study to investigate the efficacy and safety of GH treatment in prepubertal Japanese patients with short stature due to SHOX deficiency. The patients were randomly allocated to the GH-GH group (n = 10), in ...
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome [0.03%]
116例努南综合征日本患者的遗传背景及基因型表型关系分析
Yasuko Shoji,Ayaha Hata,Takatoshi Maeyama et al.
Yasuko Shoji et al.
Noonan syndrome (NS) is caused by pathogenic variants in genes encoding components of the RAS/MAPK pathway and presents with a number of symptoms, including characteristic facial features, congenital heart diseases, and short stature. Advan...
Adrenal crisis during a trip in a young child with septo-optic dysplasia [0.03%]
视隔发育不良患儿旅行途中发生肾上腺危象
Miho Takahashi,Takeshi Sato,Satsuki Nakano et al.
Miho Takahashi et al.
Severely obese 14-year-old boy with central sleep apnea several years after head trauma [0.03%]
头部受伤数年后发生中枢性睡眠呼吸暂停的严重肥胖14岁男性患者
Yusuke Moritani,Takumi Shibazaki,Hotaru Kobori et al.
Yusuke Moritani et al.
Central sleep apnea (CSA) is rare in older children. Although CSA mostly arises from neurological diseases such as Chiari malformation, the frequency of CSA is significantly higher in obese children. Herein, we describe the case of a 14-yr-...
Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone [0.03%]
先天性甲状腺功能减退症新生儿筛查发现的THRB和DUOX2变异并发病例：甲状腺激素抵抗一例报告
Megumi Hatano,Kanako Tanase-Nakao,Erika Uehara et al.
Megumi Hatano et al.
Most patients with resistance to thyroid hormone (RTH) test negative in newborn screening (NBS) for congenital hypothyroidism (CH). Here, we present a case of RTH diagnosed through NBS. The patient presented to us after her NBS for CH revea...
Alaa Baioumi,Alzbeta Kolenova,Hima Bindu Avatapalle
Alaa Baioumi
A 10-yr-old female was referred due to prolonged bleeding lasting for a week following tooth extraction. She had heavy periods since she was 9. Her height was < 0.4th centile. Tanner staging was breast stage B3-4, axillary hair A1, and pubi...
Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic IRS1 frameshift variant [0.03%]
异染色体IRS1移码变异年轻男性患者重度胰岛素抵抗糖尿病病例报告
Yamato Osawa,Nobutaka Ichiwata,Junko Kenmotsu et al.
Yamato Osawa et al.
We present the case of a young male patient (height, 158.1 cm [+3.3 standard deviation (SD)]; weight, 63.7 kg [body mass index, 25.5]) with diabetes mellitus and severe insulin resistance associated with a heterozygous pathogenic insulin re...
A novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism [0.03%]
GNAS-Gsα新剪接供体位点突变致一名假性甲状旁腺功能减退症1A型患者及其母 pseudopseudohypoparathyroidism患者的家系研究
Shinichiro Sano,Shotaro Iwamoto,Rie Matsushita et al.
Shinichiro Sano et al.
We encountered a Chinese girl with pseudohypoparathyroidism type 1A (PHP1A) and her mother with pseudopseudohypoparathyroidism (PPHP). Sequencing analysis of GNAS-Gsα revealed a heterozygous c.212+2T>C variant (NM_000516.4) affecting the c...
GH therapy in children with juvenile idiopathic arthritis: a four-decade review [0.03%]
儿童幼年特发性关节炎的生长激素治疗：四十年回顾
Giulia Sassano,Saverio La Bella,Armando Di Ludovico et al.
Giulia Sassano et al.
Chronic inflammatory conditions, such as juvenile idiopathic arthritis, are associated with growth failure. Growth failure appears to be correlated with both the effects of inflammation and negative effects of glucocorticoids (used as thera...
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome [0.03%]
FGD1中的一个新错义变异破坏了日本Aarskog-Scott综合征同胞中FYVE结构域的关键半胱氨酸残基
Ikuko Takahashi,Atsuko Noguchi,Daiki Kondo et al.
Ikuko Takahashi et al.