A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4 [0.03%]
HDAC4基因错义变异所致的短指-智能障碍综合征家系
Shinji Takeyari,Kenichi Yamamoto,Makoto Fujiwara et al.
Shinji Takeyari et al.
Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion syndrome is a genetic disorder caused by 2q37 deletion or haploinsufficiency of histone deacetylase 4 (HDAC4). The HDAC4 gene is responsible for major BDMR phenoty...
Letter to the Editor: Stress Hyperglycemia or Glucokinase Maturity Onset Diabetes of the Young (GCK-MODY) or Both? [0.03%]
读者来信：应激性高血糖或葡萄糖激酶成熟型糖尿病或两者都有？
Amanda Doherty-Kirby
Amanda Doherty-Kirby
Tomoyo Itonaga,Yukihiro Hasegawa,Shinji Higuchi et al.
Tomoyo Itonaga et al.
Several excellent guidelines and expert opinions on congenital hypothyroidism (CH) are currently available. Nonetheless, these guidelines do not address several issues related to CH in detail. In this review, the authors chose the following...
Toshimi Michigami
Toshimi Michigami
Osteocytes are dendritic-shaped cells embedded in the bone matrix and are terminally differentiated from osteoblasts. Inaccessibility due to their location has hindered the understanding of the molecular functions of osteocytes. However, sc...
A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8 [0.03%]
2q12.3q14.2区15.2Mb片段缺失累及PAX8基因的甲状腺功能减低综合征病例报告
Megumi Iwahashi-Odano,Miyuki Kitamura,Satoshi Narumi
Megumi Iwahashi-Odano
Paired box 8 (PAX8) mutations are an established genetic cause of congenital hypothyroidism (CH). The majority of these mutations are found in the protein-coding exons of the gene. The proband, a 3-yr-old girl, had tetralogy of Fallot and p...
A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly [0.03%]
FGFR1新型错义变异导致的卡尔曼综合征和全前脑畸形病例报告
Noboru Uchida,Yusuke Mizuno,Shohei Seno et al.
Noboru Uchida et al.
Increased frequency of central precocious puberty during the coronavirus disease (COVID-19) pandemic at a single center in the Osaka Metropolitan Area of Japan [0.03%]
日本大阪都市圈单中心冠状动脉疾病(COVID-19)大流行期间中枢性早熟发病率增加
Kazuki Matsubara,Shinji Higuchi,Yoh Watanabe et al.
Kazuki Matsubara et al.
As environmental factors are known to affect the timing of puberty, self-isolation during the coronavirus disease (COVID-19) pandemic may affect the incidence of central precocious puberty (CPP). This study aimed to evaluate the frequency o...
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision) [0.03%]
新生儿先天性甲状腺功能减低症筛查指南(2021年修订)
Keisuke Nagasaki,Kanshi Minamitani,Akie Nakamura et al.
Keisuke Nagasaki et al.
Purpose of developing the guidelines: Newborn screening (NBS) for congenital hypothyroidism (CH) was started in 1979 in Japan, and early diagnosis and treatment improved the intelligence prognosis of CH patients. The incidence of CH was onc...
Ultrasonography-based reference values for the cross-sectional area of the thyroid gland in children and adolescents: The Fukushima Health Management Survey [0.03%]
福岛健康管理调查中的儿童与青少年甲状腺横截面积的超声参考值
Haruka Ejiri,Mahiro Asano,Nana Nakahata et al.
Haruka Ejiri et al.
We previously described the thyroid volume, which was calculated by measuring the thyroid width, thickness, and longitudinal length using ultrasonography, in children and adolescents. We have proposed a simplified method for quantitatively ...
Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report [0.03%]
葡萄糖激酶成熟型糖尿病假性应激性高血糖症1例报告
Yoshitaka Nakasato,Shintaro Terashita,Shohei Kusabiraki et al.
Yoshitaka Nakasato et al.
Febrile seizures are frequently accompanied by stress-induced hyperglycemia. Herein, we report the case of a 1.5-yr-old girl with hyperglycemia during febrile seizures who was subsequently diagnosed with glucokinase (GCK) maturity-onset dia...