Factors predictive of serum cortisol in pediatric patients with acute physiological stress: a cohort study [0.03%]
急性生理应激的儿科患者血清皮质醇的影响因素：队列研究
Shogo Akahoshi,Marie Mitani-Konno,Taku Murakami et al.
Shogo Akahoshi et al.
Measuring cortisol is crucial for assessing adrenal function in patients under stress; however, its value can fluctuate owing to various clinical factors. This study aimed to identify predictors of cortisol levels in pediatric patients with...
Identification of a novel missense variant in the AVP gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus [0.03%]
AVP基因的新错义突变与家族性中枢性尿崩症相关研究
Daiei Kojima,Masami Shibata,Hiroaki Shikano et al.
Daiei Kojima et al.
Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by AVP gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic te...
Wieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report [0.03%]
应用 Diazoxide 成功治疗 Wieacker-Wolff 综合征并发高胰岛素血症的病例报告
Satoko Kobayashi,Ayami Sato,Yumiko Chiba et al.
Satoko Kobayashi et al.
Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the ZC4H2 gene. Here, we report the case of a male infant with WRWF manifesting as mul...
ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia [0.03%]
ABCC8单体型不全引起的母女2型糖尿病患者的低血糖症状及其相关性
Erika Uehara,Naoto Shimura,Keiko Matsubara et al.
Erika Uehara et al.
The ATP-binding cassette transporter subfamily C member 8 (ABCC8) regulates insulin secretion from β-cells. Loss- and gain-of-function variants of ABCC8 have been implicated in neonatal hyperinsulinemic hypoglycemia and young-onset diabete...
Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion [0.03%]
22q11.2微缺失引起的单牙中切牙综合征
Hirohito Shima,Akinobu Miura,Sayaka Kawashima et al.
Hirohito Shima et al.
Solitary median maxillary central incisor (SMMCI) syndrome, the mildest form of the holoprosencephaly spectrum, is a rare anomaly characterized by the presence of a single midline central incisor in both the deciduous and permanent dentitio...
Multifaceted delineation of atrophic thyroiditis among pediatric population: An extensive literature survey [0.03%]
儿童萎缩性甲状腺炎的多方面描述：一次广泛的文献调查
Sakura Motegi,Masanori Adachi,Keiko Nagahara et al.
Sakura Motegi et al.
Autoimmune hypothyroidism is categorized into Hashimoto thyroiditis (HT) and atrophic thyroiditis (AT). Although a consensus exists among Japanese endocrinologists that pediatric AT is associated with severe hypothyroidism, the question rem...
Platelet and white blood cell counts correlate with leptin and body mass index in Japanese adolescents [0.03%]
日本青少年血小板和白细胞计数与瘦素和体质指数相关性研究
Junji Takaya,Yuko Tanabe,Naohiro Nomura et al.
Junji Takaya et al.
Obesity is associated with mild chronic inflammation, frequently observed along with increased platelet and white blood cell (WBC) levels in adults. We aimed to clarify the relationship between peripheral blood cell count, body mass index s...
CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report [0.03%]
一种儿童CHD7变异和SOX2新致病变异的CHARGE综合症的病例报告
Miki Kamimura,Hirohito Shima,Erina Suzuki et al.
Miki Kamimura et al.
CHARGE syndrome is a clinically heterogeneous condition that typically presents with a loss-of-function mutation in CHD7. SOX2 anophthalmia syndrome is a rare condition associated with hypogonadism and hearing loss. Herein, we describe the ...
Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report [0.03%]
两个SLC26A4致病突变和甲状腺自身抗体阳性导致的听力损失病例报告
Akinobu Miura,Tomohiro Nakagawa,Chisumi Sogi et al.
Akinobu Miura et al.
SLC26A4 causes Pendred syndrome (PS) and nonsyndromic hearing loss. PS is distinguished based on perchlorate discharge test abnormality, goiter, and hypothyroidism in some patients. The pathophysiology of thyroid dysfunction in PS differs f...
Predictive value of transabdominal pelvic ultrasonography for the diagnosis of central precocious puberty: A single-center observational retrospective study [0.03%]
经腹部盆腔超声诊断中枢性早熟的预测价值：一项单中心回顾性观察研究
Linda Sessa,Giulia Rotunno,Giorgio Sodero et al.
Linda Sessa et al.
This single-center, observational, retrospective study aimed to evaluate the diagnostic accuracy of pelvic ultrasonographic parameters for detecting central precocious puberty (CPP) in a cohort of female pediatric patients undergoing gonado...