Browse Articles

Rare diseases remain a formidable public health challenge. The key to unlocking breakthroughs in diagnosis and treatment is fostering dynamic international partnerships and streamlined data sharing. The empowerment of patient advocacy groups is essential, as they are pivotal in driving innovative research and elevating health-care standards for these often under-represented conditions.

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

This PrimeView highlights the epidemiology of Attention-deficit/hyperactivity disorder.

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.

This PrimeView highlights the pathophysiology of rotator cuff tears and accompanies the Primer article on this topic by Feeley and colleagues.

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.

This PrimeView highlights the epidemiology of strongyloidiasis, as well as discussing mechanisms, diagnosis, management and outlook.

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.

This PrimeView highlights the mechanisms of perioperative stroke, and accompanies the Primer on this topic by Fanning et al.

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.

This PrimeView highlights the pathophysiology of pulmonary hypertension, as well as discussing epidemiology, diagnosis, management and quality of life.

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.

This PrimeView highlights the epidemiology, pathophysiology, diagnosis and management of central neuropathic pain, a chronic pain condition caused by lesion of damage to the central somatosensory nervous system.

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.

This PrimeView highlights the epidemiology, pathophysiology, diagnosis and management of typhoid fever as well as discuss prevention strategies and future research directions.

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 PrimeView summarizes the pathophysiology of degenerative mitral regurgitation, a form of valvular heart disease.

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.