Timing is everything - early diagnosis of congenital hypogonadotropic hypogonadism [0.03%]
适者生存——先天性低促性腺激素性性腺功能减退症的早期诊断
Jorma Toppari,Taneli Raivio,Sasha R Howard
Jorma Toppari
Clinical features, metabolic and autoimmune derangements in acquired partial lipodystrophy (Barraquer-Simons Syndrome) [0.03%]
获得性部分脂肪代谢障碍的临床特征、代谢和自身免疫异常（巴拉克尔-西蒙斯综合征）
Chatchon Kaewkrasaesin,Michael Hwang,Chandna Vasandani et al.
Chatchon Kaewkrasaesin et al.
Introduction: Acquired partial lipodystrophy (APL) is an ultra-rare disorder characterized by unique loss of subcutaneous fat affecting mostly the face, neck, trunk and upper extremities. The precise prevalence of metabol...
Clinical characteristics and response to growth hormone treatment in 27 children with heterozygous NPR2 variants: real-world data [0.03%]
NPR2基因杂合变异儿童的临床特征及其生长激素治疗反应：真实世界数据
Judith S Renes,Ardine M J Reedijk,Anita C S Hokken-Koelega et al.
Judith S Renes et al.
Context: NPR2 plays a critical role in the human growth plate. Heterozygous NPR2 variants result in varying degrees of short stature. Most individuals have no specific clinical findings and are classified as idiopathic sh...
The USP8 Mutational Status in Combination With Postsurgical Cortisol Levels for Predicting Recurrence of Cushing Disease [0.03%]
USP8基因突变结合手术后的皮质醇水平预测库欣病复发
Weiwei Zhou,Sichang Zheng,Lei Ye et al.
Weiwei Zhou et al.
Context: The ubiquitin-specific protease 8 (USP8) gene mutations are the most common driver changes in Cushing disease (CD). However, few studies have investigated the association between USP8 mutation and recurrence, and...
MCT8 deficiency in females [0.03%]
女性MCT8缺乏症
Stefan Groeneweg,Ferdy S van Geest,Floor van der Most et al.
Stefan Groeneweg et al.
Context: Monocarboxylate transporter (MCT) 8 facilitates thyroid hormone transport across the blood-brain-barrier. Pathogenic variants in SLC16A2 cause MCT8 deficiency (Allan-Herndon-Dudley syndrome), characterized by int...
Association Between Free Triiodothyronine and Diabetic Peripheral Neuropathy in Euthyroid Patients With Type 2 Diabetes [0.03%]
甲状腺功能正常的情况下游离三碘甲状原氨酸与2型糖尿病周围神经病变的相关性研究
Bing&#x;er Xu,Xinyu Yang,Yu Ma et al.
Bing&#x;er Xu et al.
Objective: To explore the relationship between free triiodothyronine (FT3) and diabetic peripheral neuropathy (DPN) in Euthyroid patients with type 2 diabetes mellitus. ...
Overcoming Disparities in Using SGLT2 Inhibitors for Cardiorenal Protection in Persons With and Without Type 2 Diabetes [0.03%]
有无2型糖尿病的心肾保护性SGLT2抑制剂应用差异及其对策
Gwendolyne A Jack,Eleonora Avenatti,Sangeeta R Kashyap et al.
Gwendolyne A Jack et al.
Despite mounting evidence supporting the cardio-kidney benefits of sodium/glucose cotransporter 2 (SGLT2) inhibitors, significant disparities in their use exist among people with type 2 diabetes (T2D), cardiovascular or kidney disease that ...
Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A National User-Satisfaction Survey, UK [0.03%]
英国先天性高胰岛素血症管理中的连续葡萄糖监测的全国用户满意度调查
Helen Couch,Andrew Pearson,Neha Malhotra et al.
Helen Couch et al.
Context: Congenital Hyperinsulinism (CHI) causes severe and recurrent hypoglycaemia with a 33-50% risk of neurodisability necessitating rigorous glucose monitoring. Continuous glucose monitoring (CGM) is now widely used i...
Is impaired suppression of glucagon a predictive marker of glucose intolerance? [0.03%]
胰高血糖素抑制功能受损能预测糖耐量异常吗？
Fabrizia Carli,Amalia Gastaldelli
Fabrizia Carli
Maternal Physical Activity and its Relationship to the Human Milk Metabolome and Infant Body Composition [0.03%]
母亲体力活动与人类乳汁代谢组和婴儿体成分的关系
Chang Lu,Jonathan M Dreyfuss,Tien Hua et al.
Chang Lu et al.
Context: Exercise is recommended for postpartum health, but its impacts on breastmilk composition and offspring are understudied. Objective: ...