Primers

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  • 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
  • Bone stress injuries, commonly referred to as stress reactions or stress fractures, result from repeated overloading of bone and are thought to involve an imbalance in microdamage formation and repair. This Primer provides an overview of the epidemiology, pathobiology, risk factors, diagnostic approaches, treatments and consequences of bone stress injuries.

    • Tim Hoenig
    • Kathryn E. Ackerman
    • Stuart J. Warden
    Primer
  • Hypothalamic syndrome is a rare disorder caused by injury to the hypothalamus from various diseases or their treatment. This Primer provides an overview of the epidemiology, pathophysiology, diagnosis and management of the syndrome, as well as the challenges in preventing hypothalamic injury and treating its sequelae.

    • Hermann L. Müller
    • Maithé Tauber
    • Hanneke M. van Santen
    Primer
  • Atrial fibrillation (AF) is the most common cardiac arrhythmia and is increasing in prevalence as populations age. This Primer provides an overview of AF epidemiology, the mechanisms underlying electropathology in AF, and the diagnostic approaches and treatments, and highlights important directions to improve understanding and management of AF in co-creation with patients.

    • Bianca J. J. M. Brundel
    • Xun Ai
    • Natasja M. S. de Groot
    Primer
  • This Primer describes the epidemiology, mechanisms, diagnosis and management of tobacco use and tobacco use disorder. Moreover, this Primer discusses the quality of life issues associated with tobacco use and provides an overview of future research avenues for this field.

    • Bernard Le Foll
    • Megan E. Piper
    • Wayne D. Hall
    Primer
  • Binge eating disorder is an eating disorder that is characterized by loss of control of eating behaviour and episodes of eating very large amounts of food. This Primer discusses the epidemiology, mechanisms, diagnosis and treatment of binge eating disorder.

    • Katrin E. Giel
    • Cynthia M. Bulik
    • Stephan Zipfel
    Primer
  • Hypertensive eye disease (HED) refers to dieases of the eye that are associated with acute or chronic elevations in blood pressure. This Primer discusses the epidemiology, mechanisms, diagnosis and treatment of HED.

    • Carol Y. Cheung
    • Valérie Biousse
    • Tien Y. Wong
    Primer
  • This Primer summarizes the mechanisms, epidemiology, diagnosis and treatment of stroke in children (that is, stroke occurring in those aged between 29 days and 18 years).

    • Peter B. Sporns
    • Heather J. Fullerton
    • Moritz Wildgruber
    Primer
  • The association between cancer and a state of increased coagulability results in an elevated risk of venous thromboembolism (which includes deep vein thrombosis and pulmonary embolism), a severe co-morbidity that can lead to worsened survival.

    • Alok A. Khorana
    • Nigel Mackman
    • Agnes Y. Y. Lee
    Primer
  • Heatstroke is a life-threatening illness typically associated with an uncontrolled rise in core body temperature and central nervous system dysfunction. This Primer describes its epidemiology, pathophysiology, diagnosis, preventive and therapeutic strategies, as well as long-term complications and areas for future research.

    • Abderrezak Bouchama
    • Bisher Abuyassin
    • Lisa R. Leon
    Primer
  • This Primer by Martini and colleagues summarizes the epidemiology, pathophysiology, diagnosis and management of Juvenile idiopathic arthritis (JIA), the most common chronic inflammatory rheumatic condition of childhood. In addition, this Primer discusses the quality of life of children with JIA and reviews future research directions to improve patient care.

    • Alberto Martini
    • Daniel J. Lovell
    • Nicolino Ruperto
    Primer
  • Migraine is a common headache disorder. This Primer by Ferrari and colleagues summarizes the epidemiology, pathophysiology, diagnosis and treatment of migraine. Moreover, quality of life issues faced by patients with migraine and future research avenues are discussed.

    • Michel D. Ferrari
    • Peter J. Goadsby
    • David W. Dodick
    Primer
  • Large-vessel vasculitis is the most common primary vasculitis in adults, manifesting as inflammation of the aorta and its major branches. This Primer reviews the epidemiology, pathophysiology, diagnosis and management of this disease, highlights its effects on patient quality of life, and discusses future research questions.

    • Dan Pugh
    • Maira Karabayas
    • Neeraj Dhaun
    Primer
  • Peritoneal surface malignancies have heterogeneous origins, including primary peritoneal tumours and metastases of other cancers, for example, digestive tract, reproductive tract, lung, breast and kidney tumours. This Primer reviews the epidemiology, mechanisms and diagnosis of these diseases, and discusses treatment options, patient quality of life and upcoming innovations.

    • Delia Cortés-Guiral
    • Martin Hübner
    • Manish Chand
    Primer
  • This Primer by Makker and colleagues summarizes the epidemiology, pathophysiology, diagnosis and treatment of endometrial cancer. Moreover, this Primer discusses the quality-of-life issues faced by women with endometrial cancer and summarizes future research directions.

    • Vicky Makker
    • Helen MacKay
    • Ana Oaknin
    Primer
  • Idiopathic inflammatory myopathies, also known as myositis, are a heterogeneous group of autoimmune disorders usually characterized by chronic inflammation of the muscle. This Primer reviews the epidemiology, pathophysiology, diagnosis, treatment, patient quality of life and future research needs of this group of diseases.

    • Ingrid E. Lundberg
    • Manabu Fujimoto
    • Frederick W. Miller
    Primer
  • Castleman disease includes several lymphoproliferative disorders with shared histopathological features but very different clinical presentations and course depending on the location and numbers of affected lymph nodes.

    • Antonino Carbone
    • Margaret Borok
    • Mark Bower
    Primer