Primers in 2023

Central neuropathic pain (CNP), that is, pain caused by a lesion of disease of the central somatosensory nervous system, severely impacts quality of life. In this Primer, Finnerup and colleagues review the epidemiology, pathophysiology, clinical presentation and diagnosis of CNP as well as discuss common therapeutic strategies and unmet clinical needs in this field.

Typhoid fever is an invasive bacterial disease associated with bloodstream infection. This Primer summarizes the epidemiology, pathophysiology, diagnosis, prevention and management of typhoid fever. This Primer also discusses how this disease affects patients’ quality of life and suggests future research directions.

This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of degenerative mitral regurgitation. This disorder is a type of valvular heart disease and occurs when there is direct damage to the mitral valve apparatus causing mitral leaflet coaptation failure.

IgA nephropathy (IgAN) is an inflammatory disease of the glomerulus that can lead to kidney failure. In this Primer, Stamellou et al. discuss the prevalence and pathophysiological mechanisms of IgAN, summarize diagnosis and management of the disease, and provide an outlook on required future research.

Every injury of the skin undergoes a process known as wound healing. When wound healing is disrupted, excessive scars, such as hypertrophic scars and keloid lesions, can develop. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of scars, as well as discussing how scars can affect an individual’s quality of life.

Cryptococcal meningitis affects people living with HIV and individuals who are immunosuppressed. HIV-associated disease underlies 20% of AIDS-related deaths, whereas the incidence of non-HIV cryptococcal meningitis is increasing. This Primer highlights efforts to better understand disease epidemiology and pathophysiology, and to further improve management.

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 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.

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 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.

HIV-associated lung disease includes acute, infectious illnesses such as tuberculosis as well as chronic, non-infectious conditions such as chronic obstructive lung disease and lung cancer. This Primer reviews the epidemiology, mechanisms, diagnosis and treatment of these lung conditions, their effect on patient quality of life, and future directions for research and treatment.

Cardiac tamponade is a potentially life-threatening emergency involving compression of the heart caused by accumulation of fluid in the pericardial sac. This Primer by Adler and colleagues provides an overview of the epidemiology, pathophysiology, diagnosis, treatment and effect on patient quality of life of cardiac tamponade as well as of areas requiring further research.

This Primer summarizes the molecular mechanisms of imprinting disorders, in addition to the diagnosis and treatment of these conditions. Moreover, this Primer provides an overview of future research avenues and the effect of these disorders on patient quality of life.

This Primer by Hawes and colleagues summarizes the epidemiology, pathophysiology, diagnosis and treatment of oppositional defiant disorder (ODD), a disruptive behaviour disorder that typically occurs in childhood. This Primer also discusses the effects of ODD across the lifespan and provides an overview of future research directions.