Age-dependent changes in infant head shape: a smartphone app-based study in Japan [0.03%]
基于日本智能手机APP的婴儿头部形状年龄变化的研究
Satoshi Narumi,Yui Honda,Yoriko Kotoku et al.
Satoshi Narumi et al.
Head shape undergoes rapid changes during infancy, but the age-dependent changes in cranial asymmetry remain inadequately characterized. This study aims to analyze factors associated with these parameters, and to establish reference curves ...
Growth hormone therapy in a patient with short stature due to fetal alcohol syndrome: seven-year follow-up [0.03%]
小头症患者接受生长激素治疗的七年随访研究
Koichi Yoshida,Yuki Okamatsu,Hiroshi Kanda et al.
Koichi Yoshida et al.
Fetal alcohol syndrome (FAS) is associated with persistent growth retardation, but the long-term efficacy of GH therapy for FAS-related short stature remains unclear. A Japanese girl born at 37 wk with birth weight 2,064 g (-2.1 SD) and bir...
Sibling cases of congenital hypogonadotropic hypogonadism harboring compound heterozygous KISS1R variants [0.03%]
携带KISS1R复合杂合变异的先天性低促性腺激素性性发育不全病家族病例报告
Yuki Miyahara,Kenichi Yamamoto,Ayaha Hata et al.
Yuki Miyahara et al.
Therapeutic plasmapheresis in a young infant with severe hypertriglyceridemia: a case report [0.03%]
严重高甘油三酯血症婴幼儿的治疗性血浆置换疗法：病例报告
Abhijit Choudhary,Arya James,Urmila Dahake et al.
Abhijit Choudhary et al.
Familial lipoprotein lipase (LPL) deficiency typically occurs during childhood and is characterized by severe hypertriglyceridemia, accompanied by episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and ...
Clinical features of neonatal Graves' disease revealed by twelve cases that require- antithyroid therapy [0.03%]
12例需抗甲状腺治疗的新生儿Graves病临床特征分析
Eriko Adachi,Ryosei Iemura,Yumi Tanaka et al.
Eriko Adachi et al.
Neonatal Graves' disease (GD) is rare and serious condition with a complicated clinical course, its details of the clinical features have not been clarified. This study aimed to clarify the clinical course of neonatal GD cases requiring ant...
Hydrocortisone dosage at 3 years of age is positively correlated with body mass index at 10 years in individuals with 21-hydroxylase deficiency [0.03%]
3岁年龄的氢化可的松剂量与21-羟化酶缺乏个体10岁时的身体质量指数呈正相关
Yuki Miyahara,Ayaha Hata,Tamaki Wada et al.
Yuki Miyahara et al.
Obesity is a major complication in individuals with 21-hydroxylase deficiency (21-OHD) and excessive hydrocortisone (HC) dosing is a likely contributing factor. However, the association between the HC dosage and body mass index (BMI) during...
Burosumab treatment for FGF23-related hypophosphatemia in a two-year-old girl with McCune-Albright syndrome [0.03%]
布索马布治疗McCune-Albright综合征两岁女童纤维囊性骨发育不良相关低磷血症
Tomoki Saito,Kana Hiromoto,Naoya Morisada et al.
Tomoki Saito et al.
McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by a gain-of-function pathogenic GNAS variant that triggers endocrine and skeletal manifestations, including fibrous dysplasia (FD) and FGF23-related hypophosphatemia. Conventi...
Necrotizing enterocolitis following a single very low dose of octreotide in a patient with congenital hyperinsulinism: a case successfully managed with 18F-DOPA PET/CT-guided surgery [0.03%]
单次极低剂量奥曲肽诱发的先天性高胰岛素血症患儿坏死性小肠结肠炎一例及18F-DOPA PET/CT影像引导手术成功治疗报告
Takeshi Uehara,Haruki Mizutani,Naomi Hatabu et al.
Takeshi Uehara et al.
Octreotide is considered a second-line treatment for congenital hyperinsulinism unresponsive to diazoxide. Necrotizing enterocolitis (NEC) is a serious adverse effect of octreotide, typically occurring in a dose-dependent manner. Here, we r...
A pediatric case of central diabetes insipidus and hypopituitarism after COVID-19 suspected with lymphocytic hypophysitis with positive anti-rabphilin-3A antibodies [0.03%]
怀疑淋巴细胞性垂体炎的COVID-19后中枢性尿崩症和垂体功能减退儿科病例伴抗rabphilin-3A阳性抗体
Taro Fukuta,Tatsuya Fukasawa,Haruki Mizutani et al.
Taro Fukuta et al.
Lymphocytic hypophysitis (LYH) is a rare autoimmune disorder characterized by lymphocytic infiltration of the pituitary gland, leading to central diabetes insipidus (CDI) and hypopituitarism. Although distinguishing LYH from other diseases ...