Integrated mapping resolves pathogenicity of 11 CYP21A2 variants in congenital adrenal hyperplasia [0.03%]
整合定位解析先天性肾上腺增生中CYP21A2的11种变异位点的致病性
Yingtong Xu,Anna Matveeva,Flemming Steen Jørgensen et al.
Yingtong Xu et al.
Context: Genotype-phenotype correlations in congenital adrenal hyperplasia (CAH) are often complicated by rare CYP21A2 missense variants classified as variants of uncertain significance. ...
Prevalence of diabetes mellitus in long-term cancer survivors treated with craniospinal irradiation [0.03%]
接受全脑全脊髓放疗的长期癌症生存者中糖尿病患病率
Franziska Richter,Cassandra Runow,Denise Obrecht-Sturm et al.
Franziska Richter et al.
Background: Childhood, adolescent, and young adult cancer survivors (CAYA) are at an increased risk for metabolic disorders such as diabetes mellitus. Although this risk has been well-documented for leukemia survivors and...
Aligning treatment to physiology: when to use chronotherapy, block and replace, or titration to treat hypercortisolism [0.03%]
生理治则：何时使用时间治疗、分块和替代或滴定来治疗高皮质醇血症
Henrik Elenius,James W Findling,Antoine Tabarin et al.
Henrik Elenius et al.
Medical treatment of Cushing syndrome (CS) with steroidogenesis inhibitors or ACTH-directed agents is typically given using a titration strategy to achieve "normal" exposure to cortisol, as determined by a 24-hour urine free cortisol (UFC) ...
Clinical burden of classic congenital adrenal hyperplasia and glucocorticoid-related complications: a claims analysis [0.03%]
经典先天性肾上腺皮质增生及其糖皮质激素相关并发症的临床负担：一项理赔分析
Hyunwoo Kim,Vivian H Lin,Ron S Newfield et al.
Hyunwoo Kim et al.
Context: Classic congenital adrenal hyperplasia (CAH) is a rare genetic condition characterized by impaired cortisol and aldosterone synthesis. Historical management required glucocorticoid (GC) therapy to replace cortiso...
Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs [0.03%]
靶向疗法时代软骨发育不全管理的meta分析：C型利钠肽类似物
Abul Bashar Mohammad Kamrul-Hasan,Suma Uday,Lakshmi Nagendra et al.
Abul Bashar Mohammad Kamrul-Hasan et al.
Context: No prior meta-analysis has systematically assessed efficacy and safety of C-type natriuretic peptide (CNP) analogs within the context of evolving understanding of FGFR3 biology and achondroplasia natural history....
Disparities in liver-related care among transgender adults with steatotic liver disease: a retrospective cohort study [0.03%]
与脂肪性肝病跨性别成人之间与肝脏相关护理的差异：一项回顾性队列研究
Maria Ortega Abad,Leandro Sierra,Nikki Duong et al.
Maria Ortega Abad et al.
Background: Transgender (TGD) adults experience healthcare disparities across multiple domains, yet care for steatotic liver disease (SLD) remains uninvestigated. ...
Inhibiting hepatocytes MAGL alleviates osteoporosis caused by high-fat diet-induced liver fibrosis in male mice [0.03%]
抑制高脂饮食诱导的肝纤维化小鼠肝细胞MAGL可缓解骨质疏松症
Qing Zhang,Zhixiang Lin,Peng Wang et al.
Qing Zhang et al.
Hepatic osteoporosis is mediated through the liver-bone axis, but the precise mechanisms underlying osteoporosis in severe liver disease remain elusive. A high-fat diet can induce hepatic steatosis, which may subsequently progress to liver ...
Relevance of the KATP channel function for the basal insulin hypersecretion of islets from female NZO mice [0.03%]
钾通道功能与雌性NZO小鼠胰岛基础胰岛素高分泌的相关性研究
Melissa Asuaje Pfeifer,Joana Brozek,Katharina Grupe et al.
Melissa Asuaje Pfeifer et al.
Context: The polygenic New Zealand obese (NZO) mouse model displays the characteristics of early type 2 diabetes: fasting hyperglycemia, hyperinsulinemia, and insulin resistance. The expression of the ATP-sensitive potass...
Transient gonadotropin suppression by exogenous testosterone decreases INSL3 in early puberty in boys with constitutional delay of growth and puberty [0.03%]
外源性睾酮暂时抑制促性腺激素可降低康斯坦丁发育迟缓和青春期男孩早期INSL3的水平
Taneli Raivio,Mila Tanner,Kirsi Vaaralahti et al.
Taneli Raivio et al.
We investigated circulating insulin-like peptide 3 (INSL3) in boys with constitutional delay of growth and puberty treated with exogenous testosterone (T) or oral letrozole (Lz). Twenty-eight boys were randomized to Lz (2.5 mg/day; n = 15) ...
Preoperative eGFR, age, and sex predict early postoperative renal changes in acromegaly [0.03%]
术前eGFR、年龄和性别可预测肢端肥大症术后早期肾变化
Keiko Tomiyama,Izumi Fukuda,Mikiko Okazaki-Hada et al.
Keiko Tomiyama et al.
Objective: Acromegaly induces renal alterations. However, early postoperative renal changes following rapid hormonal correction remain unclear. We assessed early postoperative changes in estimated glomerular filtration ra...