Efficacy, adherence, and cost-efficiency of three growth hormone treatment strategies in children with idiopathic short stature: a retrospective cohort study [0.03%]
三种生长激素治疗儿童特发性矮身材的疗效、依从性和成本效率：回顾性队列研究
Li Jie,Li Bo,Chen Lina et al.
Li Jie et al.
Objectives: The study compares the efficacy, adherence, and cost-effectiveness of three recombinant human growth hormone (rhGH) regimens in children with idiopathic short stature (ISS) to optimize treatments. ...
Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence [0.03%]
17β-羟类固醇脱氢酶3缺乏症罕见表型特征：从婴儿期至青春期的病例系列研究
Subbiah Sridhar,Aravind Kumar Muthu,Sreenivasan Palaniappan et al.
Subbiah Sridhar et al.
Objectives: 17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency is a rare 46XY disorder of sex development (DSD) of androgen biosynthesis. We aimed to describe the complexities in diagnosis, gender assignment, and ...
Impact of continuous glucose monitoring on fear of hypoglycemia and quality of life in children and adolescents with type 1 diabetes [0.03%]
连续葡萄糖监测对1型糖尿病儿童和青少年低血糖恐惧及生活质量的影响
Özge Köprülü,Murat Çağlar Karataş,Sevgi Akbel et al.
Özge Köprülü et al.
Objectives: This study aimed to evaluate changes in fear of hypoglycemia (FOH) and quality of life (QoL) following at least six months of continuous glucose monitoring (CGM) use in the same cohort with type 1 diabetes mel...
Efficacy and outcomes of 6-month triptorelin formulation in girls treated for central precocious puberty for 24 months and beyond [0.03%]
为期24个月以上治疗中枢性早熟女童六月剂曲普瑞林疗效及结局分析
Allison Foreman,Karen O Klein,Marcela Vargas Trujillo
Allison Foreman
Objectives: Gonadotropin-releasing hormone agonists are used to suppress physical signs of puberty and improve height outcomes by decelerating bone age maturation in patients with central precocious puberty (CPP). Publish...
Tolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria [0.03%]
治疗急性间歇性血管紧张素原增多症难治性低钠血症综合征的潜在补救疗法托伐普坦
Rahul Gupta,Pradeep Kumar Gunasekaran,Preeti Joon et al.
Rahul Gupta et al.
Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease [0.03%]
三个同胞中的迪格威-梅尔乔-克劳森综合征：与唐氏综合症和先天性巨结肠病共患的罕见病例报告
Meryem Halis,Mehmet Kocabey,Fatma Ceren Sarıoğlu et al.
Meryem Halis et al.
Objectives: Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive skeletal dysplasia caused by mutations in the DYM gene. It is characterized by progressive spondyloepimetaphyseal dysplasia, short stature, ...
Successful desensitization to alglucosidase alfa in a very young infant with Pompe disease [0.03%]
极幼小婴儿庞培病患者对阿尔糖苷酶A脱敏成功
Funda Aytekin Güvenir,Gökhan Yörüsün,Zeynep Şengül Emeksiz et al.
Funda Aytekin Güvenir et al.
Objectives: Enzyme replacement therapy (ERT) with alglucosidase alfa markedly improves outcomes in infantile-onset Pompe disease, yet hypersensitivity reactions may interrupt treatment and require desensitization. We repo...
Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis [0.03%]
异柠檬酸代谢缺陷(SCOT)缺乏症严重代谢性酸中毒的病例报告：一种新的致病OXCT1变异体(L131 _ E132 dup)及其病理生理基础
Natsuho Adachi,Hideki Matsumoto,Mai Mori et al.
Natsuho Adachi et al.
Objectives: Ketoacidosis from idiopathic ketotic hypoglycemia (IKH) rarely causes severe acidemia or requires emergency management. We report a rare inborn error of metabolism presenting with severe acidemia secondary to ...
Do patients with idiopathic short stature or partial growth hormone deficiency need to continue growth hormone therapy during puberty? [0.03%]
青春期特发性矮身材或生长激素部分缺乏的患者需要继续生长激素治疗吗？
Sena Cantas-Orsdemir,Adem Orsdemir,Carly S Barron et al.
Sena Cantas-Orsdemir et al.
Objective: Growth hormone (GH) therapy in children with idiopathic short stature (ISS) and partial GH deficiency increases adult height. However, the benefit of continuing GH therapy through puberty is unclear. We aimed t...
The incidence of sellar abnormalities in newly diagnosed children with central precocious puberty: a single-center study based on 625 cases [0.03%]
625例中枢性早熟儿童鞍区异常的发病情况分析
Wen-Hui Shi,Hong-Ru Zhang,Jun Sun et al.
Wen-Hui Shi et al.
Objectives: Although magnetic resonance imaging (MRI) examination of the sellar region is an important tool for evaluating the potential causes of central precocious puberty (CPP), its value in children with CPP remains c...