Primers

Obstructive sleep apnoea syndrome is a respiratory condition in which the airway collapses repeatedly during sleep, leading to intermittent hypoxia with cardiovascular co-morbidities as a consequence. In this Primer, Lévy et al. describe the causes, consequences and treatment options for this condition.

Human T-lymphotropic virus 1 (HTLV-1) infection can cause inflammation and degeneration of the spinal cord — HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Here, Bangham et al. summarize the pathogenesis and clinical management of this devastating disease and highlight open research questions.

Cataract is the most common cause of blindness worldwide. Here, Lam et al. summarize the development of cataract and highlight how different the impact and the management of this disease are in the developing compared with the developed world.

Vitiligo is the most common depigmenting disorder globally. Here, the authors explore the interplay of metabolic disturbances, autoimmunity and cellular degeneration that lead to the dysfunction and destruction of melanocytes. Understanding these processes supports the development of more effective therapies.

Arteriovenous malformations are characterized by a direct link between arteries and veins without intervening capillaries. This Primer highlights high rupture and haemorrhage risk when these occur in the brain, as well as the diagnosis and management options available to patients.

Non-small-cell lung cancer is the most common form of lung cancer; it is associated with smoking and in 20% of cases is driven by mutations in EGFR and ALK. Gridelli et al. describe the epidemiology, pathophysiology and state-of-the-art in diagnosis and management.

Cystic fibrosis is caused by mutations in cystic fibrosis transmembrane conductance regulator (CFTR), which encodes a transmembrane ion channel on epithelial cells. Here, Ratjen et al. highlight that, although CFTR dysfunction affects many organs, lung disease is responsible for the vast majority of morbidity and mortality.

Venous thrombosis and its potentially debilitating or even fatal consequences can pose diagnostic and therapeutic challenges. Here, Mackman and colleagues discuss not only the clinical implications of thrombosis but also new insights into thrombogenesis and how to inhibit this process.

Spina bifida is a congenital disorder caused by failed closure of the neural tube, which leads to sensory, motor and cognitive dysfunction. Copp et al. discuss the prevalence and pathogenesis of spina bifida, as well as preventive actions, diagnostic methods and treatment options.

Melanoma is one of the most common cancers in the West, and the research arena is bustling; advances in immunotherapy and genomics are reflected in the increasing survival of patients. This Primer summarizes these developments and discusses the challenges ahead.

Huntington disease is an autosomal dominant neurological disorder caused by mutation in HTT. The disease typically manifests in adulthood and is characterized by progressive motor, cognitive and behavioural impairment. This Primer discusses the current knowledge of this disease.

Systemic sclerosis is an autoimmune disease characterized by vasculopathy-induced fibrosis of the skin and organs that can be life-threatening. Varga and colleagues describe the current views of pathogenesis and treatment, and present an outlook for the future.

Menopause is the age-related loss of female reproductive function. Here, Davis et al. describe menopause physiology and its impact on women's health. They call for more research to understand the basic biology underlying this transition and to develop new therapies.