Denosumab use in osteogenesis imperfecta: an update on therapeutic approaches [0.03%]
成骨不全症的denosumab应用：治疗进展综述
Fatma Majdoub,Hanene Lassoued Ferjani,Dorra Ben Nessib et al.
Fatma Majdoub et al.
Osteogenesis imperfecta (OI) is an inherited skeletal disorder that leads to bone fragility and multiple fractures. Given advances in the genetic understanding of existing phenotypes and newly discovered mutations, therapeutic management of...
Marcio José Concepción-Zavaleta,Cristian David Armas,Juan Eduardo Quiroz-Aldave et al.
Marcio José Concepción-Zavaleta et al.
Cushing disease (CD) is the main cause of endogenous Cushing syndrome (CS) and is produced by an adrenocorticotropic hormone (ACTH)-producing pituitary adenoma. Its relevance in pediatrics is due to the retardation of both growth and develo...
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [0.03%]
21-羟化酶缺乏症的分子基础及包括CAHX综合征在内的诊断遗传学检测策略
Ja Hye Kim,Gu-Hwan Kim,Han-Wook Yoo et al.
Ja Hye Kim et al.
Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes ste...
Establishing reference values for percentage of appendicular skeletal muscle mass and their association with metabolic syndrome in Korean adolescents [0.03%]
建立韩国青少年四肢骨骼肌质量百分比的参考值及其与代谢综合征的关系
Da Hye Lee,Sung-Chan Kang,Seung-Sik Hwang et al.
Da Hye Lee et al.
Purpose: The association between appendicular skeletal muscle mass (ASM) and cardiometabolic risk has been emphasized. We estimated reference values of the percentage of ASM (PASM) and investigated their association with ...
Cutoff values of body mass index for severe obesity in Korean children and adolescents: the 99th percentile versus 120% of the 95th percentile [0.03%]
韩国儿童及青少年重度肥胖BMI界值的99百分位数与95百分位数120%的比较研究
Jaewon Choe,Jaehyun Kim,Jin Soo Moon
Jaewon Choe
Purpose: Several definitions for severe obesity have been used, primarily the 99th percentile of the body mass index (BMI) and 120% of the 95th BMI percentile. This study aimed to establish a standardized definition for s...
Reply to Commentary on "Pituitary apoplexy in an adolescent male with macroprolactinoma presenting as middle cerebral artery territory infarction" [0.03%]
关于“巨大型泌乳素瘤男性青少年患者出现大脑中动脉分布梗死的垂体卒中”的述评答复文章
Pankaj Agrawal,Ved Bhushan Arya
Pankaj Agrawal
Effect of gonadotropin-releasing hormone agonist treatment on near final height in girls with central precocious puberty and early puberty [0.03%]
促性素释放激素激动剂治疗中枢性早熟及早青春期女童对终身高影响的研究
Eun Hye Yang,Ha Young Jo,Su Jeong Park et al.
Eun Hye Yang et al.
Purpose: The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP)...
Ilenia Cicolini,Annalisa Blasetti,Francesco Chiarelli
Ilenia Cicolini
Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is th...