Primers

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  • 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.

    • Huan Li
    • Fang Hu
    • Yang Liang
    Primer
  • 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.

    • Marco Vincenzo Lenti
    • Sarah Luu
    • Antonio Di Sabatino
    Primer
  • 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.

    • Juan C. Roa
    • Patricia García
    • Jill Koshiol
    Primer
  • 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.

    • T. Fintan Moriarty
    • Willem-Jan Metsemakers
    • R. Geoff Richards
    Primer
  • 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.

    • Florencia Cidre-Aranaz
    • Sarah Watson
    • Thomas G. P. Grünewald
    Primer
  • 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.

    • Raffaella Buzzetti
    • Ernesto Maddaloni
    • Bernhard O. Boehm
    Primer
  • 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.

    • Pavel Kolkhir
    • Ana M. Giménez-Arnau
    • Marcus Maurer
    Primer
  • 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.

    • Neal L. Millar
    • Adam Meakins
    • Scott A. Rodeo
    Primer
  • 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.

    • Werner Poewe
    • Iva Stankovic
    • Horacio Kaufmann
    Primer
  • 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.

    • Adil E. Bharucha
    • Charles H. Knowles
    • Paul Enck
    Primer
  • 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.

    • Eugenio Mercuri
    • Charlotte J. Sumner
    • Richard S. Finkel
    Primer
  • 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.

    • Vincent Falanga
    • Roslyn Rivkah Isseroff
    • Keith Harding
    Primer
  • Multimorbidity (two or more coexisting conditions in an individual) has substantial effects on individuals, carers and society. This Primer by Skou and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of multimorbidity. Moreover, this Primer summarizes the effect of multimorbidity on quality of life and discusses open research questions for this condition.

    • Søren T. Skou
    • Frances S. Mair
    • Susan M. Smith
    Primer
  • This Primer by Mazzone and colleagues summarizes the epidemiology, pathophysiology, diagnosis and treatment of chronic cough and cough hypersensitivity. This Primer also discusses how cough hypersensitivity and chronic cough affect patients’ quality of life and future research directions for the field.

    • Kian Fan Chung
    • Lorcan McGarvey
    • Stuart B. Mazzone
    Primer
  • Hepatic encephalopathy is a neuropsychiatric syndrome that occurs in patients with liver disease. This Primer discusses the epidemiology, pathophysiology, diagnosis and treatment of hepatic encephalopathy, and discusses how this disorder affects the quality of life of patients.

    • Dieter Häussinger
    • Radha K. Dhiman
    • Hendrik Vilstrup
    Primer
  • Genetic pain loss disorders are a heterogeneous group of diseases that are characterized by reduced pain sensation. This Primer discusses the epidemiology, pathophysiology, diagnosis and treatment of these disorders.

    • Annette Lischka
    • Petra Lassuthova
    • Ingo Kurth
    Primer
  • Congenital diaphragmatic hernia is a rare birth defect associated with cardiopulmonary complications and high mortality and morbidity. This Primer describes the epidemiology and mechanisms of congenital diaphragmatic hernia and discusses diagnosis, management and quality of life for patients.

    • Augusto Zani
    • Wendy K. Chung
    • Richard Keijzer
    Primer
  • Trachoma, caused by infection with conjunctival strains of Chlamydia trachomatis, is the most common infectious cause of blindness. This Primer summarizes the epidemiology, pathophysiology and diagnosis of trachoma as well as its management, disease control and elimination, and key areas for future research.

    • Anthony W. Solomon
    • Matthew J. Burton
    • Lamine Traoré
    Primer
  • Hypothyroidism is a common condition of insufficient thyroid hormone production or metabolism, which can be life-threatening if untreated. This Primer reviews hypothyroidism epidemiology, pathogenesis, diagnosis, screening and prevention programmes, current treatment approaches, and areas for additional research.

    • Layal Chaker
    • Salman Razvi
    • Robin P. Peeters
    Primer
  • Achalasia is a disorder of the oesophageal smooth muscle characterized by impaired lower oesophageal sphincter relaxation and absent or spastic oesophageal body contractions. This Primer reviews the epidemiology, pathophysiology, diagnosis and management of achalasia, as well as patient quality of life and areas for further research.

    • Edoardo Savarino
    • Shobna Bhatia
    • C. Prakash Gyawali
    Primer