Primers and PrimeViews in 2017

Rickets is a bone disease that is associated with abnormalities in serum calcium and/or phosphate levels in blood, leading to bowing deformities of the legs, short stature and widening of joints. This Primer highlights the epidemiology, pathophysiology, diagnosis and management of rickets.

Constipation describes a variety of symptoms, including hard stools, excessive straining, infrequent bowel movements, bloating and abdominal pain. This Primer by Camilleri et al. describes the epidemiology, mechanisms, diagnosis and management of primary chronic constipation in adults.

Familial hypercholesterolaemia is a common inherited condition, but it is often diagnosed only in adulthood. Individuals with familial hypercholesterolaemia have chronic increased plasma levels of low-density lipoprotein cholesterol, which can cause early-onset cardiovascular disease.

Rabies is a deadly neglected tropical zoonosis caused by infection with rabies virus (RABV). In almost every case, RABV is transmitted by dogs, which are the main RABV reservoir; thus, almost every case could be prevented via dog vaccination campaigns together with effective post-exposure prophylaxis and disease awareness.

Chronic kidney disease (CKD) is the progressive, irreversible loss of renal function that has many causes and contributing factors. In this Primer, the authors describe the many consequences of CKD and how understanding — and treating — the underlying cause can substantially slow CKD progression.

Hepatitis E virus (HEV) infection is often asymptomatic but can lead to acute and chronic hepatitis as well as to extrahepatic manifestations such as neurological or renal disease and pregnancy complications. In this Primer, Kamar et al. describe the epidemiology, pathophysiology, diagnosis and management of HEV infection.

Rotaviruses are double-stranded RNA viruses that are a leading cause of severe, dehydrating gastroenteritis in children <5 years of age. This Primer gives an overview of the pathophysiology of rotavirus infection and describes how the introduction of vaccinations has altered the epidemiology and demographics of this disease.

Functional dyspepsia is a functional gastrointestinal disorder characterized by discomfort or pain in the upper abdomen (generally associated with food intake) with no apparent underlying organic cause. The three subtypes of functional dyspepsia are postprandial distress syndrome, epigastric pain syndrome and a subtype with mixed features.

Merkel cell carcinoma (MCC) is a rare, highly metastatic skin cancer. MCC pathogenesis is associated with either the presence of Merkel cell polyomavirus or chronic exposure to ultraviolet light, which can cause a characteristic pattern of multiple DNA mutations.

Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by progressive lung scarring that is thought to occur in a genetically susceptible, ageing individual through aberrant reparative responses to repeated injury to the alveolar epithelium. This Primer summarizes the processes thought to underlie the development of IPF and clinical challenges faced in treating patients with this irreversible condition.

Syphilis is a sexually and vertically transmitted infection caused by Treponema pallidum. Although curable, syphilis is re-emerging as a global public health problem, particularly among men who have sex with men in developed countries, and as a major cause of stillbirths and neonatal deaths in developing nations. This Primer summarizes our current understanding of the pathogen and describes ongoing efforts towards global elimination.

Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which leads to progressive muscle weakness and paralysis. This Primer by Hardiman and colleagues provides a detailed overview of the epidemiology, pathophysiology and diagnosis of ALS, and discusses the management of both the motor and non-motor symptoms of this condition.

Fragile X syndrome (FXS) is characterized by severe behavioural alterations, such as hyperactivity, anxiety and symptoms of autism spectrum disorder. These behavioural manifestations, in addition to the molecular pathophysiology, diagnosis and management of FXS, are reviewed in this Primer.

Children with severe malnutrition (which includes severe wasting and kwashiorkor) have an elevated risk of serious illness and death, primarily from acute infectious diseases. In this Primer, the authors describe the multifactorial aetiology of severe malnutrition and the efforts needed to meet the United Nations’ Sustainable Development Goal of zero hunger.

Snakebite envenoming is a neglected tropical disease that particularly affects impoverished populations in the rural tropics. This Primer describes the efforts toward reducing the burden of snakebites, which require input from private, public and non-profit stakeholders worldwide.

Chronic pancreatitis is characterized by chronic inflammation of the pancreas that results in progressive scarring of the pancreatic tissue, pain and pancreatic gland dysfunction. In this Primer, Kleeff et al. describe the current understanding of chronic pancreatitis and its complications.

Hypoparathyroidism is a disease characterized by inadequately low circulating levels of parathyroid hormone resulting in low calcium levels and increased phosphate levels in the blood. In this Primer, Mannstadt et al. summarize current knowledge of the prevalence, pathophysiology, clinical presentation and management of hypoparathyroidism.

Heart failure can be broadly divided into two categories: heart failure with preserved ejection fraction and heart failure with reduced ejection fraction (HFrEF). HFrEF accounts for approximately 50% of all cases of heart failure in the United States and is the focus of this Primer by Butler and colleagues.

Osteogenesis imperfecta — also known as brittle bone disease — is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. In this Primer, Marini et al. provide an overview of the epidemiology, genetics, pathophysiology, diagnosis and management of osteogenesis imperfecta.

Malaria is a mosquito-transmitted infection that affects more than 200 million people worldwide, with the highest morbidity and mortality in Africa. Elimination, through vector control approaches and chemoprevention, is within reach, but is threatened by the emergence of drug-resistant strains of mosquitoes and Plasmodium spp., the infectious parasite.