Primers

Monogenic diabetes encompasses forms of diabetes that result from a single pathogenic genetic alteration and usually have an early onset. This Primer gives an overview of the epidemiology, pathophysiology, diagnosis and treatment of these conditions, as well as patient quality of life and open research questions.

Fetal alcohol spectrum disorders (FASD) are characterized by neurodevelopmental impairment with or without facial dysmorphology, congenital anomalies and poor growth. This Primer discusses the epidemiology, pathophysiology, diagnosis and treatment of FASD.

Pre-eclampsia is a life-threatening disease of pregnancy and a leading cause of maternal and neonatal morbidity and mortality. This Primer by Dimitriadis and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of pre-eclampsia, and discusses patient quality of life and open research questions for this condition.

Medication overuse headache is a secondary headache disorder that occurs in those with a primary headache disorder (commonly tension-type headache or migraine). This Primer reviews the epidemiology, pathophysiology, diagnosis and treatment of medication overuse headache, and discusses how this disorder affects the quality of life of patients.

The ichthyoses are a group of dermatological disorders characterized by generalized scaly, erythematous skin, accompanied by epidermal barrier function disruptions. This Primer by Gutiérrez-Cerrajero and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of ichthyosis, and discusses patient quality of life and open research questions for this condition.

Hazardous drinking and alcohol use disorder are associated with substantial harms to both the individual and others. This Primer discusses the epidemiology, mechanisms, diagnosis and management of these disorders, and also summarizes screening, prevention and the quality of life issues faced by individuals with these disorders.

Burkitt lymphoma is an aggressive form of B cell lymphoma that can affect children and adults. Its research has been central in advancing haematopathology and cancer research. This Primer by Siebert and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of this disorder, patient quality of life and open research questions.

Osteosarcoma is the most common primary malignant tumour of the bone. This Primer by Gorlick and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of this disorder as well as the quality of life of patients and open research questions.

Myelodysplastic syndromes (MDS) are a group of blood cancers involving dysregulated haematopoiesis, which may progress to acute myeloid leukaemia. This Primer provides an overview of the epidemiology, diagnosis, pathogenesis and management of MDS.

Asplenia and hyposplenism can have multiple and complex causes and lead to morbidity and mortality, especially owing to overwhelming post-splenectomy infections. In this Primer, Lenti and colleagues review epidemiology, pathophysiology, diagnosis and management of these conditions, and discuss patient quality of life and future strategies.

Gallbladder cancer is the most common cancer of the biliary tract and often has a very poor prognosis. This Primer by Roa and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of gallbladder cancer, and discusses patient quality of life and open research questions for this disease.

Fracture-related infection, involving infiltration of pathogenic bacteria into a wound that delays bone healing, is a common complication of bone fracture fixation. This Primer reviews the epidemiology, pathobiology, diagnosis and management of these infections and their impact on patient quality of life.

Small round cell sarcomas are a group of aggressive tumours of bone and soft tissue that result from specific genetic alterations and fusions, typically involving EWSR1, BCOR or CIC. This Primer reviews the epidemiology, pathogenesis, diagnosis, and management of these entities and the effects of the tumour and its treatment on quality of life.

Adult-onset autoimmune diabetes can occur as classic type 1 diabetes but mostly has a slow progression and a long period not requiring insulin; it is often misdiagnosed as type 2 diabetes. This Primer by Buzzetti and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of this disorder, and summarizes patient quality of life and open research questions.

Urticaria is an inflammatory skin disorder that presents with itchy wheals and/or angioedema mediated by skin mast cells and release of histamine and other mediators. This Primer by Kolkhir et al. summarizes the epidemiology, mechanisms, diagnosis and treatment of urticaria, and discusses patient quality of life and open research questions for this condition.

Frozen shoulder is a fibroproliferative disorder of the shoulder characterized by pain and progressive loss of shoulder mobility. In this Primer, Millar et al. provide an overview of the epidemiology, pathophysiology, diagnosis and treatment of frozen shoulder, as well as how it affects patients’ quality of life.

This Primer by Poewe and colleagues summarizes the epidemiology, diagnosis, pathophysiology and treatment of multiple system atrophy. Moreover, this Primer provides an overview of the quality of life issues faced by patients with this disorder and future research avenues.

Faecal incontinence is defined by the unintentional loss of solid or liquid stool and can markedly impair quality of life. This Primer summarizes the epidemiology, pathophysiology and diagnosis of faecal incontinence in adults as well as its management, patient quality of life and areas for future research.

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. In this Primer, Mercuri et al. discuss the epidemiology, aetiology, diagnosis and screening, and treatment of SMA and its effect on patients’ lives.

Chronic wounds are wounds that do not heal in an expected time frame owing to prolonged dysregulated inflammation. In this Primer, Falanga and colleagues review the epidemiology, pathophysiology, diagnosis and treatment of chronic wounds as well as their effects on patients’ quality of life.