Primers

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  • This Primer summarizes the epidemiology, diagnosis, treatment and pathophysiology of essential tremor, a movement disorder that is typically characterized by upper limb action tremor in the absence of other neurological signs.

    • Thomas Welton
    • Francisco Cardoso
    • Eng-King Tan
    Primer
  • Restless legs syndrome is a common disorder that is characterized by an urge to move the legs. This Primer reviews the epidemiology, mechanisms, diagnosis and treatment of restless legs syndrome, and also summarizes the quality-of-life issues faced by patients and future research avenues.

    • Mauro Manconi
    • Diego Garcia-Borreguero
    • Yves Dauvilliers
    Primer
  • Primary lymphoedema (PLE) refers to swelling of parts of the body (usually limbs) caused by anomalies in the development or functioning of the lymphatic system; PLE can result from genetic mutations and can be the only symptom or one of the manifestations of a syndrome.

    • Pascal Brouillard
    • Marlys H. Witte
    • Miikka Vikkula
    Primer
  • Wilms tumour (WT) is the most common renal tumour in infants and young children. This Primer reviews the epidemiology, mechanisms, diagnosis and management of WT. In addition, the authors outline potential opportunities to translate novel biological targets to improve clinical outcomes.

    • Filippo Spreafico
    • Conrad V. Fernandez
    • Kathy Pritchard-Jones
    Primer
  • Histiocytic disorders are characterized by proliferation of cells with macrophage or dendritic cell phenotype and intense inflammation. Clinical signs and symptoms depend on the specific disease and the tissues and organs affected.

    • Kenneth L. McClain
    • Camille Bigenwald
    • Carl E. Allen
    Primer
  • Membranous nephropathy is a glomerular disease that is the most frequent cause of nephrotic syndrome in adults. This Primer reviews the epidemiology, pathophysiology, diagnosis and management of this disease and discusses how to improve long-term renal prognosis and quality of life.

    • Pierre Ronco
    • Laurence Beck
    • Jack Wetzels
    Primer
  • Behçet syndrome is a recurrent multiorgan inflammatory disorder and a systemic vasculitis that predominantly affects veins. This Primer reviews the epidemiology, pathophysiology, diagnosis and treatment of Behçet syndrome and describes its effect on patient quality of life and the future outlook for the field.

    • Yusuf Yazici
    • Gulen Hatemi
    • Hasan Yazici
    Primer
  • Cholangiocarcinoma is a highly lethal adenocarcinoma of the hepatobiliary system that can be associated with liver fluke infection but often has no identifiable cause. This Primer reviews the epidemiology, pathophysiological mechanisms, diagnosis and management of cholangiocarcinoma, and highlights the patient experience and future directions.

    • Paul J. Brindley
    • Melinda Bachini
    • Gregory J. Gores
    Primer
  • Marfan syndrome (MFS) is a genetic disorder affecting the connective tissue, caused by mutations in FBN1 (which encodes fibrillin-1, a structural component of the extracellular matrix); individuals with MFS usually present with cardiovascular (aortic aneurysms and dissections), skeletal and ocular manifestations.

    • Dianna M. Milewicz
    • Alan C. Braverman
    • Reed E. Pyeritz
    Primer
  • Cutaneous T cell lymphoma is a group of lymphomas that initially manifest in the skin. This Primer summarizes the pathophysiology, epidemiology, diagnosis and management of these disorders.

    • Reinhard Dummer
    • Maarten H. Vermeer
    • Egle Ramelyte
    Primer
  • Psoriatic arthritis (PsA) is a chronic immune-mediated form of arthritis that occurs in some patients with psoriasis. This Primer reviews the epidemiology and pathophysiology of PsA and highlights the challenges in diagnosis and advances in treatment. In addition, the authors discuss the quality of life of patients and outstanding questions in the field.

    • Oliver FitzGerald
    • Alexis Ogdie
    • Philip J. Mease
    Primer
  • Non-union, defined as a fractured bone that does not heal within the expected time or is deemed unable to heal without intervention, represents a complex chronic medical condition characterized by pain and functional and psychosocial disability. In this Primer, Jupiter and colleagues discuss the epidemiology, advances in pathophysiology, diagnosis and management, and the quality of life of patients with non-union.

    • Britt Wildemann
    • Anita Ignatius
    • Jesse B. Jupiter
    Primer
  • Gastro-oesophageal reflux disease is common in adults and children. This Primer covers current knowledge of the different aspects of the disease in these populations, including its epidemiology, pathophysiology, diagnosis, treatment and prognosis as well as the quality of life of patients.

    • Ronnie Fass
    • Guy E. Boeckxstaens
    • Michael F. Vaezi
    Primer
  • Acute kidney injury (AKI) describes a sudden loss of excretory kidney function that can result in long-term kidney damage. This Primer describes AKI epidemiology and pathophysiology in different economic settings, discusses current diagnostic and management principles, and highlights long-term effects on quality of life and initiatives to improve patient care.

    • John A. Kellum
    • Paola Romagnani
    • Hans-Joachim Anders
    Primer
  • Psychopathy is a personality disorder that is characterized by a lack of empathy, guilt, and remorse, in addition to grandiosity, arrogance, and deceitful, manipulative and antisocial behaviours. This Primer reviews the epidemiology, mechanisms, diagnosis and treatment of psychopathy and describes the effect of this disorder on quality of life and functioning.

    • Stephane A. De Brito
    • Adelle E. Forth
    • Essi Viding
    Primer
  • Cognitive impairment is common in patients with Parkinson disease and ranges in severity. This Primer reviews the epidemiology, pathophysiology, diagnosis and treatment of cognitive impairment in Parkinson disease and describes the effects on patient quality of life and the future outlook for the field.

    • Dag Aarsland
    • Lucia Batzu
    • Daniel Weintraub
    Primer
  • 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.

    • Erik Berntorp
    • Kathelijn Fischer
    • Victor Blanchette
    Primer
  • 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.

    • Beth A. Kozel
    • Boaz Barak
    • Barbara R. Pober
    Primer
  • 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.

    • Kristin E. Burke
    • Mauro D’Amato
    • Hamed Khalili
    Primer
  • Contact dermatitis results from the exposure to exogenous allergens or irritants that stimulate immune responses leading to inflammation of the skin.

    • Pamela L. Scheinman
    • Marc Vocanson
    • Ari M. Goldminz
    Primer