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Congenital lung malformations are rare developmental anomalies of the lung that can lead to recurrent infections, pneumothorax and malignancy in some patients. This Primer summarizes the epidemiology, pathophysiology and diagnosis of this disorder, and discusses current disease management and quality of life of patients.
Urothelial bladder cancer has various pathogenic pathways and comprises distinct molecular subtypes. This Primer reviews the epidemiology of the disease with a focus on risk factors, discusses mechanisms of pathogenesis, diagnosis and management at different disease stages, and highlights patient quality of life and open research questions.
This PrimeView summarizes the epidemiology, mechanisms, diagnosis and treatment of traumatic muscle injury. This injury type is defined as traumatic damage of the muscle tissue that can result in a functional deficit.
This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of traumatic muscle injury. This injury type is defined as traumatic damage to the muscle tissue that can result in a functional deficit.
Hirschsprung disease (HSCR) is a rare congenital disorder characterized by absence of ganglion cells in the bowel, leading to constipation, abdominal distension and intestinal obstruction. This Primer summarizes the epidemiology, pathophysiology, diagnosis and management of HSCR, and discusses quality of life of patients as well as novel avenues for research.
Hepatitis A virus (HAV) infection causes an acute liver disease that resolves with no long-term sequelae in most patients. Some patients will develop acute liver failure requiring transplantation. This Primer discusses the epidemiology, pathophysiology, diagnosis, prevention and treatment of HAV infection.
This PrimeView highlights the mechanisms of male infertility, and also summarizes the epidemiology, diagnosis, management and outlook for this condition.
Male infertility is increasing globally and is an under-recognized factor in couples’ infertility. In this Primer, Eisenberg and colleagues provide an overview of the epidemiology, aetiology, diagnosis, prevention and treatment of male infertility, focusing on impairments in spermatogenesis.
This Primer provides a general overview of the epidemiology, diagnosis, pathophysiology and treatment of the glycogen storage diseases. These genetic conditions are characterized by deficits in glycogenesis, glycogenolysis or glycolysis.
This PrimeView highlights the management of major depressive disorder, a common mental health disorder characterized by low mood, and reduced interest or pleasure in previously enjoyable activities.
This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of major depressive disorder (MDD). This Primer also reviews how this disorder affects patient quality of life, and provides an overview of future research.
In HIV infection, the virus invades and destroys the immune system of the host. This Primer by Bekker and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of HIV infection, and discusses patient quality of life and open research questions for this condition.
Frontotemporal lobar degeneration is one of the most common causes of early-onset dementia. This Primer summarizes the epidemiology, pathophysiology, diagnosis, and treatment of frontotemporal dementia and discusses how this disorder affects patients’ quality of life.