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Thoracic aortic aneurysm (TAA) is characterized by dilation of the aorta. In this Primer, Berger et al. review the epidemiology, pathophysiological mechanisms, diagnosis and management of TAA, and provide insights into its effect on quality of life and suggestions for areas of future research.
This PrimeView highlights the mechanisms and pathophysiology of leptospirosis, and summarizes the epidemiology, diagnosis and management of this disease. It accompanies the Primer article on this topic by Rajapakse et al.
Leptospirosis is a zoonotic bacterial infection that causes considerable morbidity and mortality worldwide. In this Primer, Rajapakse et al. review the epidemiology and pathogenesis of the disease; discuss its diagnosis, prevention, management and effects on quality of life; and identify areas of research that should be prioritized in the future.
Mastocytosis, characterized by focal accumulations of clonal mast cells in the skin and/or in internal organs, such as the bone marrow, liver, spleen, lymph nodes or gastrointestinal tract.
Mastocytosis is characterized by focal accumulations of clonal mast cells in the skin and/or in internal organs such as bone marrow, spleen, lymph nodes or the gastrointestinal tract. In this Primer, Akin et al. discuss the epidemiology, pathophysiology, diagnosis and current management of mastocytosis, and future research areas.
Globally, pressure is increasing for healthcare systems to deliver on the promise of genomic medicine to improve patient well-being. Although primary care is the ideal setting for leading this effort, primary health systems are overburdened and ill-equipped for this task in many jurisdictions. Integrating professional genetic counsellors may be a solution.
As the pace of innovation accelerates and societies change, the needs of all patients must remain the focus of healthcare. At 10 years, Nature Reviews Disease Primers remains committed to providing accessible, authoritative knowledge to those who strive to improve the lives of individuals in need of care.
This PrimeView highlights the epidemiology, mechanisms, diagnosis and management of polycythaemia vera and outlines quality of life issues and future research directions.
Polycythaemia vera is a member of the myeloproliferative neoplasms family of disorders and is characterized by an abnormal increase in red blood cell mass that is driven by activating mutations in JAK2. Harrison et al. outline the current understanding in epidemiology, mechanisms, diagnosis and treatment of this chronic myeloproliferative disorder and discuss future research directions.
This PrimeView highlights the management of non-syndromic craniosynostosis and summarizes the epidemiology, mechanisms, diagnosis and patient quality of life of this disorder. It accompanies the Primer article on this topic by Alperovich et al.
Craniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. In this Primer, Alperovich and colleagues discuss the epidemiology, mechanisms, diagnosis and management of single-suture non-syndromic craniosynostosis, which is the most common form, and highlight quality of life of patients.
This PrimeView highlights the epidemiology, mechanisms, diagnosis and management of cutaneous melanoma and outlines quality of life issues and future research directions.
Cutaneous melanoma arises from malignant transformation of melanocytes in the epidermis and is a common cancer in many parts of the world. In this Primer, Tasdogan and colleagues outline the epidemiology, mechanisms, diagnosis, screening and prevention of cutaneous melanoma, and discuss advances in treatment.
Achilles tendinopathy is a complex disorder affecting the Achilles tendon, causing pain, swelling and discomfort. In this Primer, Wildemann and colleagues review the epidemiology, diagnosis, management and the latest advances in our understanding of Achilles tendinopathy as well as strategies that can improve patient outcomes.
Primary sclerosing cholangitis (PSC) is a chronic progressive inflammation and fibrosis of the intrahepatic and extrahepatic bile tracts. This Primer presents the available knowledge on PSC as well as the numerous challenges and unmet needs while shedding light into the ‘black box of hepatology’.
This PrimeView highlights the epidemiology, current knowledge of pathophysiology, diagnosis, management and quality of life of patients with metabolic dysfunction-associated steatotic liver disease (MASLD), the most common liver disease in adults worldwide.
In this Primer, Loomba and colleagues discuss the epidemiology, current understanding of pathophysiology, diagnosis and management of metabolic dysfunction-associated steatotic liver disease, the most common chronic liver disease worldwide, affecting 30% of the adult population.
