Primers in 2015

Nonalcoholic fatty liver disease is characterized by excess accumulation of fat in hepatocytes, which can be accompanied by inflammation, cell injury and fibrosis. Here, Brunt et al. explain the pathophysiology, the current limitations in management options and the avenues for progress.

Cancers derived from follicular thyroid cells, which produce the iodine-containing thyroid hormones, have an excellent prognosis. In this Primer, Dralle et al. describe the advances in the molecular characterization of the tumours and the current state-of-the-art in diagnosis and management.

Chronic obstructive pulmonary disease (COPD) is characterized by damage to the lungs and consequent obstruction of the airways, and is strongly associated with smoking. This Primer discusses the causes and mechanisms of COPD and approaches to its diagnosis and management.

Anorexia nervosa (AN) is a psychiatric condition characterized by severe weight loss and associated problems of malnutrition. The illness perpetuates without early intervention as patients value the beliefs and behaviours contributing to their illness rather than regarding them as problematic. Here, Treasure et al. describe the current research in AN.

22q11.2 deletion syndrome is the most common chromosomal microdeletion disorder and is characterized by a heterogeneous presentation involving multiple organ systems. In this Primer, McDonald-McGinn et al. focus on the current understanding of the phenotype and the genetic underpinnings.

Schizophrenia is a complex disorder that debuts early in adolescence with cognitive and social dysfunction, followed many years later by psychosis. Alongside greater insight into disease mechanisms, Kahn and colleagues argue for applying current knowledge more effectively.

Colorectal cancer is a common cancer globally; its increased incidence over the past 60 years is associated with red meat consumption, smoking, alcohol intake and an ageing population. Here, Kuipers et al. describe the biology and treatment of colorectal cancers, and discuss the impact that screening will have on outcomes.

Severe combined immunodeficiencies comprise a group of rare, monogenic diseases that are characterized by an early onset and a profound block in T lymphocyte development. In this Primer, Fischer and colleagues explain the pathogenesis of this disorder with a focus on current and future treatment strategies.

Alzheimer's disease is a progressive, neurodegenerative disorder that affects 10–30% of people >65 years of age. In this Primer, Masters and colleagues describe the pathophysiology of Alzheimer's disease, the advances in diagnostic biomarkers, and the current and future management options.

Post-traumatic stress disorder (PTSD) can develop after a person experiences a traumatic event, such as natural disaster or violent crime. However, not everyone who experiences trauma develops PTSD. In this Primer, the authors describe at-risk populations and the factors that modulate PTSD risk.

Millions of people are infected with human immunodeficiency virus (HIV) globally. Antiretroviral therapy offers substantial benefit to those infected or at risk of infection — controlling viraemia and delaying the onset of acquired immune deficiency syndrome (AIDS). Here, the authors describe the basic and clinical research advances in this important global health issue.

Adolescent idiopathic scoliosis (AIS) is characterized by spinal curvature that develops early in adolescence. Although its causes are unknown, in this Primer, Cheng and colleagues discuss various hypotheses to explain the development and progression of AIS.

Acne vulgaris is a chronic inflammatory disease of the pilosebaceous gland and is among the most common dermatological conditions worldwide. In this Primer, Feldman and colleagues describe the pathophysiology, diagnostic tools and current treatment options for acne and urge for a better recognition of this disease.

Asthma is a chronic inflammatory disease of the airways. Here, Holgate and colleagues outline the need for a better mechanistic understanding of the origins and heterogeneity of asthma, and discuss how this is leading a move towards more-personalized and targeted treatments.

Insomnia disorder is characterized by dissatisfaction with sleep duration or quality, difficulties initiating or maintaining sleep and impairments in daytime functioning. Morin and colleagues contend that improvements in diagnosis and management require a greater understanding of the psychobiological mechanisms that cause insomnia.

Retinoblastoma is a rare tumour of the eye that affects infants and children and is associated with the loss of both retinoblastoma gene (RB1) alleles. In this Primer, Gallie and colleagues describe the pathophysiology and management of this disease from a global perspective and discuss the remaining challenges to its treatment.

Fibromyalgia is characterized by chronic widespread pain, unrefreshing sleep, physical exhaustion and cognitive difficulties. The definition, pathogenesis and treatment of fibromyalgia are controversial, with some physicians contesting its existence. In this Primer, Häuser et al. explain these controversies.

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder that affects children and adults. In this Primer, Faraone and colleagues argue that improved understanding of the heterogeneous genetic and environmental mechanisms underlying ADHD is required to improve diagnosis and treatment.

Diabetic kidney disease is caused by microvascular damage sustained as a result of diabetes. Cooper et al. discuss current knowledge on this condition, arguing that novel strategies to halt and reverse disease progression are urgently needed.

Type 2 diabetes mellitus is a chronic metabolic disorder associated with hyperglycaemia caused by impaired insulin secretion and insulin resistance. In this Primer, DeFronzo et al. discuss the pathophysiology, diagnosis, and current and future treatment strategies.