Hematopoietic stem cell transplantation-associated partial lipodystrophy [0.03%]
与造血干细胞移植相关的部分性脂代谢紊乱病
Masanori Adachi
Masanori Adachi
Hematopoietic stem cell transplantation (HSCT)-associated partial lipodystrophy (HSCT-PL) is a serious metabolic complication that develops in remote period among childhood cancer survivors treated with HSCT with total body irradiation (TBI...
Molecular modeling and clinical characterization of a CYP17A1 variant (p.Asp298Asn) causing 17α-hydroxylase/17,20-lyase deficiency in two siblings [0.03%]
CYP17A1变异体(p.Asp298Asn)导致两兄弟姐妹的17α-羟化酶/17，20-裂解酶缺乏症的分子建模和临床特征描述
Ertugrul Sancak,Muammer Büyükinan,Ahmet Fatih Yılmaz et al.
Ertugrul Sancak et al.
PTHLH gene variant in an Indian boy with brachydactyly type E: A case report and literature review [0.03%]
印度短指E型患者PTHLH基因变异病例报告及文献复习
Anjana Hulse,Priya Ranganath
Anjana Hulse
Concerns regarding linear growth and dysmorphic features are common in several genetic syndromes. Among these, PTHLH-related brachydactyly type E (BDE), which is inherited in an autosomal dominant manner, is a rare but distinct genetic diso...
Skeletal dysplasia and growth disorder with SEC23A p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia [0.03%]
SEC23A c.2146C>G (p.Arg716Cys)变异相关的颅骨- lenticle-缝联合畸形综合征伴骨骼发育不良和生长障碍
Hideaki Yagasaki,Hiromune Narusawa,Daisuke Watanabe et al.
Hideaki Yagasaki et al.
Perinatal hypophosphatasia refractory to asfotase alfa with neutralizing antibodies that affected bone mineralization: a case report [0.03%]
抗asfotase alfa抗体影响骨矿化的一个围生期低碱性磷酸酶症病例报告
Yusuke Kamoda,Nanako Kawata,Emina Ubukata et al.
Yusuke Kamoda et al.
Hypophosphatasia (HPP) is a rare osteometabolic disease. Enzyme replacement therapy (ERT) for HPP was approved in 2015 and has significantly improved the survival and quality of life of patients. Poor responses to ERT have been reported; ho...
A case of familial isolated hypoparathyroidism type 2 with novel compound heterozygous variants in GCM2 [0.03%]
GCM2新发复合杂合突变导致的家族性孤立性低钙血症型2病例报告
Nobuhiro Hashimoto,Yosuke Ichihashi,Hidekazu Sakai et al.
Nobuhiro Hashimoto et al.
ACAN-related short stature with an incidental ALPL variant: a case report [0.03%]
有关ACAN的矮小症并意外出现ALPL变异：病例报告
Joana Azevedo Silva,Ana Rita A Costa,Inês Mazeda et al.
Joana Azevedo Silva et al.
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by pathogenic variants in the ALPL gene, with a wide clinical spectrum ranging from severe pediatric forms to mild adult-onset disease. In contrast, heterozygous vari...
Uterine artery pulsatility index as a functional biomarker of central precocious puberty: a scoping review [0.03%]
子宫动脉搏动指数作为中枢性早熟功能生物标志物的范围综述
Ignazio Cammisa,Donato Rigante,Clelia Cipolla
Ignazio Cammisa
Central precocious puberty (CPP) results from the premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. Although the GnRH stimulation test remains the gold standard for diagnosis, the uterine artery pulsatility index (PI) h...
Endocrine dysfunction induced by anti-PD-1 antibody and tyrosine kinase inhibitor in a pediatric patient with renal cell carcinoma [0.03%]
抗PD-1抗体和酪氨酸激酶抑制剂诱导的儿童肾细胞癌患者的内分泌功能障碍
Megumi Endo,Shuntaro Morikawa,Naoya Kaneko et al.
Megumi Endo et al.
In recent years, the use of immune checkpoint inhibitors (ICIs) and tyrosine kinase inhibitors (TKIs) has increased and has demonstrated excellent antitumor effects. However, immunotherapy in pediatric patients remains limited, and knowledg...
Twenty-five years of pediatric type 1 diabetes in Serbia: Trends in age at diagnosis, seasonal variation, and the proportion of diabetic ketoacidosis before, during, and after the COVID-19 pandemic [0.03%]
塞尔维亚25年来的儿童1型糖尿病：诊断年龄、季节变化以及COVID-19大流行之前、期间和之后糖尿病酮症酸中毒的比例趋势
Sandra Stankovic,Ivana Vorgučin,Vera Zdravkovic et al.
Sandra Stankovic et al.
We aimed to examine 25-yr trends in the incidence, age at diagnosis, seasonal variation, and frequency of diabetic ketoacidosis among children and adolescents with newly diagnosed type 1 diabetes mellitus in Serbia, before, during, and afte...