Update on the Porphyrias [0.03%]
卟啉病的诊治进展
Amy K Dickey,Rebecca Karp Leaf,Manisha Balwani
Amy K Dickey
The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on t...
Jennifer A Sullivan,Kelly Schoch,Rebecca C Spillmann et al.
Jennifer A Sullivan et al.
Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+...
New Frontiers in Obesity Treatment: GLP-1 and Nascent Nutrient-Stimulated Hormone-Based Therapeutics [0.03%]
肥胖症治疗新前沿：GLP-1及其他新生的基于营养刺激激素的疗法
Ania M Jastreboff,Robert F Kushner
Ania M Jastreboff
Nearly half of Americans are projected to have obesity by 2030, underscoring the pressing need for effective treatments. Glucagon-like peptide 1 receptor agonists (GLP-1 RAs) represent the first agents in a rapidly evolving, highly promisin...
Use of Race in Kidney Function Estimation: Lessons Learned and the Path Toward Health Justice [0.03%]
肾功能估计中的种族应用：吸取的教训及通向健康公正的道路
Dinushika Mohottige,Opeyemi Olabisi,L Ebony Boulware
Dinushika Mohottige
In 2020, the nephrology community formally interrogated long-standing race-based clinical algorithms used in the field, including the kidney function estimation equations. A comprehensive understanding of the history of kidney function esti...
Chronic Neuromuscular Respiratory Failure and Home Assisted Ventilation [0.03%]
慢性神经肌肉性呼吸衰竭与家庭辅助通气治疗
Hugo Carmona,Andrew D Graustein,Joshua O Benditt
Hugo Carmona
Chronic respiratory failure is a common, important complication of many types of neuromuscular and chest wall disorders. While the pathophysiology of each disease may be different, these disorders can variably affect all muscles involved in...
Maternal Mortality in the United States: Trends and Opportunities for Prevention [0.03%]
美国的孕产妇死亡率：趋势与预防机会
Siwen Wang,Kathryn M Rexrode,Andrea A Florio et al.
Siwen Wang et al.
Maternal mortality is unusually high in the United States compared to other wealthy nations and is characterized by major disparities in race/ethnicity, geography, and socioeconomic factors. Similar to other developed nations, the United St...
Atit Dharia,Abid Khan,Vikas S Sridhar et al.
Atit Dharia et al.
Sodium-glucose cotransporter-2 inhibitors (SGLT2 inhibitors) were originally developed as antidiabetic agents, with cardiovascular (CV) outcome trials demonstrating improved CV outcomes in patients with type 2 diabetes mellitus (T2D). Secon...
Biological Phenotyping in Sepsis and Acute Respiratory Distress Syndrome [0.03%]
脓毒症和急性呼吸窘迫综合征的生物表型分析
Pratik Sinha,Nuala J Meyer,Carolyn S Calfee
Pratik Sinha
Heterogeneity in sepsis and acute respiratory distress syndrome (ARDS) is increasingly being recognized as one of the principal barriers to finding efficacious targeted therapies. The advent of multiple high-throughput biological data ("omi...
Herra Ahmad,Nikolaus Jahn,Siddhartha Jaiswal
Herra Ahmad
Aging is associated with increased mutational burden in every tissue studied. Occasionally, fitness-increasing mutations will arise, leading to stem cell clonal expansion. This process occurs in several tissues but has been best studied in ...
Club Cell Secretory Protein in Lung Disease: Emerging Concepts and Potential Therapeutics [0.03%]
肺疾病中的俱乐部细胞分泌蛋白：新兴概念和潜在治疗靶点
Tereza Martinu,Jamie L Todd,Andrew E Gelman et al.
Tereza Martinu et al.
Club cell secretory protein (CCSP), also known as secretoglobin 1A1 (gene name SCGB1A1), is one of the most abundant proteins in the lung, primarily produced by club cells of the distal airway epithelium. At baseline, CCSP is found in large...