Reviews & Analysis

This PrimeView highlights the steps in the coagulation cascade that are impaired in haemophilia, a disorder caused by mutations in the genes encoding coagulation factors VIII or IX.

Haemophilia is a recessive, X-linked, genetic disease caused by mutations in the gene encoding coagulation factor VIII (in haemophilia A) or IX (in haemophilia B). Individuals living with haemophilia are susceptible to bleeding events that can occur spontaneously or as a result of injury.

This PrimeView accompanies the Primer by Pober, Kozel and colleagues and highlights the epidemiology, pathophysiology, diagnosis, screening, management and quality of life of individuals with Williams syndrome.

Williams syndrome is a rare genetic disorder caused by the microdeletion of a region of chromosome 7q11.23. In this Primer, Pober and colleagues provide an overview of the epidemiology, genetic aetiology, diagnosis, common manifestations and management of this syndrome as well as of how quality of life is affected in individuals with Williams syndrome and their families.

Microscopic colitis (MC) is an inflammatory bowel disease that causes persistent watery diarrhoea. This PrimeView highlights the epidemiology, mechanisms, diagnosis and management of MC.

This Primer reviews the epidemiology, pathophysiology, diagnosis and management of microscopic colitis (MC), a type of inflammatory bowel disease that causes persistent watery diarrhoea. This Primer also discusses the effect of MC on patient quality of life and future research priorities in this field.

This PrimeView highlights the different types of contact dermatitis (a common inflammatory skin disease) and some of the most common allergens or irritants that can cause it.

Contact dermatitis results from the exposure to exogenous allergens or irritants that stimulate immune responses leading to inflammation of the skin.

This PrimeView accompanies the Primer by van Spronsen and colleagues and highlights the epidemiology, pathophysiology, diagnosis, screening, management and quality of life of individuals with phenylketonuria.

Phenylketonuria is an inherited disorder of phenylalanine metabolism that can result in neurological dysfunction. This Primer reviews the epidemiology, aetiology, diagnosis and management of PKU as well as the impact on patients’ quality of life.

This PrimeView highlights the pathophysiology of Alzheimer disease, a neurodegenerative disorder that manifests as cognitive impairment, and accompanies the Primer on Alzheimer disease by Knopman and colleagues.

Alzheimer disease is a neurodegenerative disorder that causes cognitive impairment. This Primer by Knopman et al. reviews the epidemiology of cognitive manifestations and risk factors, summarizes the pathophysiology from a synaptic disorder perspective, and reviews advances in the diagnosis, management and quality of life of persons living with Alzheimer disease.

This PrimeView highlights the pathophysiology of age-related macular degeneration, and summarizes the diagnosis, management, epidemiology and outlook of this disorder. It accompanies the Primer on this topic by Fleckenstein and colleagues.

Age-related macular degeneration (AMD) is the leading cause of severe vision loss in the developed world. This Primer describes the different stages of AMD, its epidemiology, the current understanding of its pathophysiology and diagnostic modalities. Additionally, it outlines existing treatment options and highlights the outstanding issues, suggesting future research avenues.

This PrimeView highlights the complex interactions between both prothrombotic and antithrombotic mechanisms that underlie trauma-induced coagulopathy.

Trauma-induced coagulopathy describes alterations in haemostasis (such as fibrinogen depletion, inadequate thrombin generation, impaired platelet function and dysregulated fibrinolysis) that can result in both uncontrolled bleeding and hypercoagulation, leading to venous thromboembolism and multiple organ failure.

This PrimeView accompanies the Primer by Pawlik and colleagues and highlights the epidemiology, pathophysiology, diagnosis, screening, management and the quality of life of patients with liver metastases.

Liver metastases are commonly detected in a range of malignancies originating from the pancreas, breast, colon or rectum. This Primer summarizes the epidemiology, mechanisms and diagnosis of liver metastasis, discusses the various treatment options and effects on quality of life, and highlights ongoing and future research areas.

This PrimeView highlights the epidemiology of pneumonia, a respiratory infection that can be caused by pathogens whose prevalence varies depending on the geographical area and the site of acquisition (community or healthcare settings).

Pneumonia is a respiratory infection of the distal airways; it can be acquired in the community or in the hospital, and it can be caused by several types of bacteria, viruses, fungi and other pathogens.