Primers

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  • Helicobacter pylori infection causes chronic gastritis and can lead to severe gastroduodenal pathologies, including peptic ulcer and gastric cancer. This Primer summarizes the epidemiology, pathophysiology, diagnosis and management of this infection, and discusses patient quality of life and open research questions.

    • Peter Malfertheiner
    • M. Constanza Camargo
    • Sebastian Suerbaum
    Primer
  • Chikungunya fever is an acute febrile illness caused by chikungunya virus, a mosquito-borne alphavirus. This Primer by Bartholomeeusen and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of chikungunya fever, and discusses patient quality of life and open research questions for this condition.

    • Koen Bartholomeeusen
    • Matthieu Daniel
    • Kevin K. Ariën
    Primer
  • This Primer by Cordonnier and colleagues describes the epidemiology, aetiology, pathophysiology, diagnosis and treatment of intracerebral haemorrhage.

    • Laurent Puy
    • Adrian R. Parry-Jones
    • Charlotte Cordonnier
    Primer
  • 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.

    • Amélie Bonnefond
    • Ranjit Unnikrishnan
    • Philippe Froguel
    Primer
  • 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.

    • Svetlana Popova
    • Michael E. Charness
    • Elizabeth J. Elliott
    Primer
  • 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.

    • Evdokia Dimitriadis
    • Daniel L. Rolnik
    • Ellen Menkhorst
    Primer
  • 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.

    • Sait Ashina
    • Gisela M. Terwindt
    • Richard B. Lipton
    Primer
  • 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.

    • Carlos Gutiérrez-Cerrajero
    • Eli Sprecher
    • Rogelio González-Sarmiento
    Primer
  • 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.

    • James MacKillop
    • Roberta Agabio
    • Jürgen Rehm
    Primer
  • 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.

    • Cristina López
    • Birgit Burkhardt
    • Reiner Siebert
    Primer
  • 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.

    • Hannah C. Beird
    • Stefan S. Bielack
    • Richard Gorlick
    Primer
  • 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