Primers

Gastric neuroendocrine neoplasms (gNENs) are rare tumours of the neuroendocrine cells of the stomach and consist of different subtypes with distinct management and prognosis. In this Primer, Campana and colleagues review the complex biology of the various gNEN subtypes and their epidemiology, diagnosis and management, and highlight the unmet needs in the field.

Multidrug-resistant tuberculosis (MDR-TB) is caused by Mycobacterium tuberculosis that is resistant to several first-line drugs. MDR-TB is an increasing public health challenge. In this Primer, Dheda et al. summarize the epidemiology and mechanisms, and discuss diagnosis, management and quality of life of patients with MDR-TB.

Invasive candidiasis is a fungal disease caused by Candida pathogens. In this Primer, Lass-Flörl et al. summarize current knowledge of epidemiology and mechanisms and discuss the diagnosis, treatment and quality of life of patients with invasive candidiasis. They also highlight outstanding research questions.

Retinal detachment describes the separation of the neurosensory retina from the underlying retinal pigment epithelium, leading to impaired vision or vision loss. This Primer discusses the epidemiology, pathophysiology, diagnosis and management of this disorder and highlights future research directions.

Alkaptonuria is a rare metabolic disease that has multisystemic and debilitating effects. In this Primer, Bernardini et al. summarize current knowledge of epidemiology and mechanisms, and discuss diagnosis, management and quality of life of patients with this disorder. They also highlight outstanding research questions.

This Primer by Zerr et al. discusses the epidemiology, pathophysiology, diagnosis and potential future treatments for Creutzfeldt–Jakob disease and other human prion diseases.

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder that typically starts in childhood. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of ADHD.

Rotator cuff tears occur due to trauma or, most commonly, due to degenerative changes to tendon structure. This Primer summarizes the epidemiology and pathophysiology of this condition, discusses its diagnosis and management, and highlights patients’ quality of life and future research questions.

Strongyloidiasis is a helminth infection that is most common in tropical and subtropical regions. In this Primer, Gordon et al. review the global disease burden and risk factors, summarize the pathophysiology, diagnosis and prevention of this parasite infection, and provide an overview of its treatment and areas for future work.

Perioperative stroke — that is stroke occurring during or within 30 days of surgery — is associated with poor outcomes. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of perioperative stroke.

Pulmonary hypertension describes a group of disorders characterized by elevated mean pulmonary artery pressure. This Primer reviews the epidemiology and pathophysiology of pulmonary hypertension, discusses diagnosis and management, and provides an overview of current open research questions.

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.