Shown are the genetic variants identified in EPO, the gene encoding erythropoietin (EPO), in patients with erythrocytosis. The term cDNA denotes complementary DNA, F female, M male, and NA not ...

In the peripheral airways of patients with chronic obstructive pulmonary disease, as compared with normal peripheral airways, there is airflow limitation due to a variable mixture of loss of ...

Next-generation sequencing has enabled precision therapeutic approaches that have improved the lives of children with rare diseases. Congenital diarrhea and enteropathies (CODEs) are associated ...

Chronic spontaneous urticaria is an idiopathic syndrome defined by recurring itch, hives, or angioedema (or a combination of these symptoms) for more than 6 weeks. Remibrutinib, an oral, highly ...

Decades of strict sentencing laws, the racially motivated “War on Drugs,” and simultaneous erosion of community mental health and social services have contributed to the American public health ...

Hunger is an ancestral and evolutionary survival instinct; its importance is evident in the complex and redundant pathways involving all five senses that regulate it. 1,2 Historically, when humans ...

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a T-cell–mediated severe cutaneous adverse reaction characterized by rash, fever, internal organ involvement, and systemic ...

This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when ...

Dr. Mallory C. Mandel (Pediatrics): A 16-year-old girl was admitted to this hospital because of abdominal pain. The patient had been in her usual state of health until 4 weeks before the current ...

Dr. Amy E. Armstrong-Javors: A 12-year-old boy with autism was admitted to this hospital because of decreased vision in both eyes. The patient had been in his usual state of health until 6 weeks ...

We and others identified retinoblastoma features that suggested that the tumors originate in long- and medium-wavelength cone precursors, and we discovered features of these cone precursors that ...

Trials of surgical evacuation of supratentorial intracerebral hemorrhages have generally shown no functional benefit. Whether early minimally invasive surgical removal would result in better ...