Adrenal Corticomedullary Mixed Tumor Associated With the FGFR4-G388R Variant [0.03%]
与FGFR4-G388R变异相关的肾上腺皮质髓质混合瘤
Maki Kanzawa,Hidenori Fukuoka,Akane Yamamoto et al.
Maki Kanzawa et al.
Adrenal corticomedullary mixed tumors (CMMTs) are extremely rare; with only 20 cases being reported to date, the pathogenesis has remained elusive. A 31-year-old woman developed gestational hypertension with psychiatric disturbances persist...
Reassessment of Urinary Aldosterone Measurement After Saline Infusion in Primary Aldosteronism [0.03%]
输注生理盐水后对原发性醛固酮增多症中尿液醛固酮测定的再评估
Hiroki Kaneko,Hironobu Umakoshi,Yuki Ishihara et al.
Hiroki Kaneko et al.
Context: Urinary aldosterone levels (Uald) are widely measured in the oral sodium-loading test to confirm primary aldosteronism (PA), but reliable studies on their diagnostic value are limited. This may be due to the diff...
Elimination of Locoregional Recurrences and Skin Metastases in Papillary Thyroid Cancer by Ethanol Ablation and Mohs Surgery [0.03%]
通过酒精消融和莫氏手术消除乳头状甲状腺癌的局部复发和皮肤转移
Nicole M Iñiguez-Ariza,Robert A Lee,Jerry D Brewer et al.
Nicole M Iñiguez-Ariza et al.
Ultrasound-guided percutaneous ethanol ablation procedures for locoregional recurrences in papillary thyroid carcinoma (PTC) can be repeatedly performed over years. Skin metastases (SM) from PTC generally portend a lethal prognosis. Our pat...
Physical Activity Associations with Bone Mineral Density and Modification by Metabolic Traits [0.03%]
骨矿物密度与身体活动的关系以及代谢特征对该关系的影响
Anshu Buttan,Jinrui Cui,Xiuqing Guo et al.
Anshu Buttan et al.
Objective: To assess the relationship of physical activity with bone mineral density (BMD) at various sites and examine potential modifying metabolic factors. ...
Manipulation of Hydrocortisone Tablets Leads to Iatrogenic Cushing Syndrome in a 6-Year-Old Girl With CAH [0.03%]
一名患有CAH的6岁女孩因服用氢可的松片而导致医源性库欣综合症
Heba Al-Rayess,Kristin Fleissner,Mu&#x;taz Jaber et al.
Heba Al-Rayess et al.
Currently there are no commercially available hydrocortisone formulations for the treatment of children with congenital adrenal hyperplasia (CAH) that allow for smaller doses (0.1-1.25 mg) and incremental adjustments needed to control exces...
A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant [0.03%]
身材矮小、下颌发育不全和骨质疏松的新综合症可能与PRRT3基因变异有关
Abhimanyu Garg,Hatem El-Shanti,Chao Xing et al.
Abhimanyu Garg et al.
Context: Despite considerable progress in elucidating the molecular basis of various progeroid syndromes, some rare patients remain unexplained. Objective...
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL) [0.03%]
酪酸血症基因(ALPL)中两种罕见突变之一的杂合子受试者的表型分析
Daniel R Tilden,Jonathan H Sheehan,John H Newman et al.
Daniel R Tilden et al.
Context: Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a pathogenic variant i...
David C Kem,Hongliang Li,Xichun Yu et al.
David C Kem et al.
Objective: Is polycystic ovary syndrome (PCOS) associated with activating autoantibodies (AAb) to the second extracellular loop (ECL2) of gonadotropin-releasing hormone receptor (GnRHR)? ...
ApoB48-Lipoproteins Are Associated with Cardiometabolic Risk in Adolescents with and without Polycystic Ovary Syndrome [0.03%]
ApoB48-脂蛋白与患有和未患多囊卵巢综合征的青少年的心血管代谢风险相关
Donna F Vine,Lawrence J Beilin,Sally Burrows et al.
Donna F Vine et al.
Context: Adolescents with polycystic ovary syndrome (PCOS) have increased incidence of cardiometabolic risk factors including dyslipidemia. Atherogenic apolipoprotein (apo) B-lipoprotein remnants are associated with incre...
Misdiagnosis of Paraganglioma by 123I-mIBG Without Stable Iodine Blockade of Thyroidal Radioiodine Uptake [0.03%]
无稳定碘阻断甲状腺放射性碘摄取的123I-mIBG对副神经节瘤误诊
Stanley M Chen Cardenas,Daisy Duan,Lisa M Rooper et al.
Stanley M Chen Cardenas et al.
Iodine-123/iodine-131 (123I/131I)-metaiodobenzylguanidine (mIBG) scan is an established tool for the localization and treatment of neuroendocrine tumors such as paragangliomas (PGL). To minimize thyroid irradiation by the radioactive iodine...