Primers in 2018

Low back pain is one of the leading causes of years lived with disability worldwide. This Primer by Vlaeyen and colleagues reviews the epidemiology, diagnosis and management of low back pain and discusses the potential contributors, underlying mechanisms and neurobiology of back pain.

Autosomal dominant polycystic kidney disease (PKD) and autosomal recessive PKD are progressive cilia-related disorders that often lead to chronic kidney disease and end-stage renal disease. This Primer provides an overview of the current knowledge of PKD pathogenesis and its treatment.

Neonatal abstinence syndrome refers to the signs and symptoms in a neonate that are caused by the cessation of prenatal exposure (via placental transfer) to various substances. In particular, opioid use or misuse during pregnancy can lead to neonatal opioid withdrawal syndrome.

Bronchiectasis refers to dilatation in the bronchi, as detected by radiological examination. Often the result of other diseases, bronchiectasis is also a disease in its own right and can lead to chronic infections, inflammation, airway damage and, ultimately, reduced lung function and respiratory failure.

Multiple sclerosis is characterized by the formation of demyelination lesions throughout the central nervous system, leading to neurological dysfunction. This Primer provides an overview of the immunopathology, diagnosis and management of multiple sclerosis.

Gastroparesis is a chronic disorder characterized by gastric neuromuscular dysfunction, which causes delayed gastric emptying that is associated with symptoms of nausea and vomiting. This Primer describes different causes of gastroparesis and highlights specific diagnostic tests and management strategies.

Systemic immunoglobulin light chain amyloidosis is a disease characterized by the tissue accumulation of amyloid fibrillar aggregates, which leads to organ dysfunction. This Primer discusses the molecular mechanisms of this form of amyloidosis and highlights management strategies that have improved quality of life and survival.

An abdominal aortic aneurysm (AAA) is an enlargement of the abdominal aorta. As the AAA grows, the aortic wall becomes progressively thin, and the risk of rupture increases; AAA rupture causes severe intra-abdominal haemorrhage and has a very high mortality.

This Primer discusses the epidemiology, mechanisms, differential diagnosis and management of the immune-mediated neuropathies — a large group of disorders that includes Guillain–Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy, among other disorders.

Testicular cancer, which is the most common malignancy among men between 14 and 44 years of age, has a cure rate of >90%. This Primer provides an overview of the biology, epidemiology, diagnosis and current treatment guidelines for testicular cancer, with a focus on germ cell tumours.

Lysosomal storage diseases (LSDs) are a diverse group of disorders that can manifest at any stage of life. This Primer by Platt and colleagues provides an overview of the LSDs, including how lysosomal dysfunction gives rise to disease and how these disorders are diagnosed and treated. An overview of future therapeutic targets for LSDs is also provided.

Dystonia can be classified as isolated or combined depending on the absence or presence of additional symptoms, respectively. This Primer discusses the epidemiology, mechanisms, diagnosis and management of isolated dystonia and touches upon combined dystonia where required.

Hepatorenal syndrome (HRS) is defined as severe kidney functional impairment that occurs in patients with liver cirrhosis. This Primer discusses new diagnostic criteria of acute kidney injury in the context of HRS and also covers pathophysiology and management of this serious disorder.

Wilson disease is an inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. This Primer describes the pathogenesis of this disorder and outlines diagnostic and management strategies.

Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by a loss of muscle atonia and abnormal behaviours during REM sleep. This Primer discusses the epidemiology, pathophysiology, diagnosis and management of RBD as well as the relationship and implications of the relationship between idiopathic RBD and neurodegenerative disease.

Alcoholic liver disease refers to a spectrum of disorders that are caused by chronic alcohol consumption. This Primer covers the epidemiology, mechanisms, diagnosis and management of alcoholic liver disease.

Schistosomiasis is a parasitic infection caused by Schistosoma spp. flatworms. Transmission of the infection occurs via contact with contaminated water, and the disease is most prevalent in areas with limited access to safe drinking water and sanitation.

Cryoglobulinaemia is characterized by the presence of precipitable immunoglobulins in the serum and can lead to a clinical syndrome called cryoglobulinaemic vasculitis. This Primer describes the underlying mechanisms, diagnosis and management of cryoglobulinaemia.

Endometriosis is a common inflammatory disease associated with pelvic pain and infertility and is characterized by the presence of tissue outside the uterus that resembles endometrium. This Primer describes the pathogenesis of the condition and the current outlook for future research.

Ewing sarcoma is a malignant bone or soft-tissue tumour that mainly affects children, adolescents and young adults. This Primer describes the key characteristic molecular features of and the remaining unanswered research questions in Ewing sarcoma.