Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [0.03%]
完全型和部分型雄激素不敏感综合征患者的临床结局及其基因型与表型的相关性研究
Nae-Yun Lee,Ja Hye Kim,Ji-Hee Yoon et al.
Nae-Yun Lee et al.
Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular s...
The prevalence of diabetic peripheral neuropathy in youth with diabetes mellitus [0.03%]
糖尿病年轻患者外周神经病变的流行病学研究
Piengjai Sophausvaporn,Jariya Boonhong,Taninee Sahakitrungruang
Piengjai Sophausvaporn
Purpose: Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and to assess the sensitivity and specific...
A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features [0.03%]
一例无常见临床表现的14岁女童Ⅱ型自身免疫性胰岛素抵抗综合征病例报告
Na Won Lee,Ji Eun Jeong,Young Hwan Kim et al.
Na Won Lee et al.
Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication [0.03%]
Xp22.33缺失联合7p22.3重复综合征所致特纳综合症
Ha Young Jo,Hyun Ji Jang,Young Mi Kim et al.
Ha Young Jo et al.
A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism [0.03%]
一名携带CHD8基因突变的韩国患儿表现为过度生长、智力障碍和孤独症
Chiwoo Kim,Eu-Seon Noh,Sung Yoon Cho
Chiwoo Kim
Remission in pediatric Graves' disease treated with antithyroid drug and the risk factors associated with relapse [0.03%]
儿童格雷夫斯病应用抗甲状腺药物治疗的缓解及复发危险因素分析
Tsz Wai Catherine Wong,Man Yee Shirley Wong
Tsz Wai Catherine Wong
Purpose: To evaluate the characteristics and frequency of remission in pediatric patients with Graves' disease (GD) treated with antithyroid drug (ATD) and to identify factors that may be associated with relapse. ...
Clinical studies of dapagliflozin in pediatric patients: a rapid review [0.03%]
dapagliflozin在儿童患者中的临床研究：快速回顾
Paige M Grube,Robert D Beckett
Paige M Grube
The oral sodium-glucose cotransporter 2 inhibitor, dapagliflozin, is used to treat kidney disease, heart failure, and diabetes in adults, but has not been well studied in pediatrics, and does not have a recognized place in therapy in curren...
Impact of iodine intake on the pathogenesis of autoimmune thyroid disease in children and adults [0.03%]
碘摄入量对儿童和成人自身免疫性甲状腺疾病发病的影响
Iyshwarya Bhaskar Kalarani,Ramakrishnan Veerabathiran
Iyshwarya Bhaskar Kalarani
Thyroid hormone (TH) regulates the body's metabolism and iodine, a vital trace mineral, is vital for TH synthesis. As a TH biosynthesis catalyst, iodine has a substantial role in our health. When there is a modest iodine deficit, the t...
Growth plate extracellular matrix defects and short stature in children [0.03%]
生长板细胞外基质缺陷与儿童的身材矮小问题
Maria Alessandra Saltarelli,Alessia Quarta,Francesco Chiarelli
Maria Alessandra Saltarelli
Many etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify ...