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This Primer by Baird, He and colleagues reviews the epidemiology, pathophysiology, diagnosis and treatment of myopia, a prevalent eye disorder among school-aged children that affects distance vision and may result in irreversible visual impairment.
This Primer by Bousquet and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of allergic rhinitis. In addition, it reviews the quality-of-life issues faced by patients and provides an overview of how mobile health technologies could improve patient care.
Head and neck squamous cell carcinomas (HNSCCs) originate from the mucosal epithelium in the oral cavity, pharynx and larynx and are commonly associated with viral infection and tobacco use. This Primer provides an overview of the epidemiology, pathogenesis and treatment of HNSCCs of different aetiologies and the effects of the cancer and its treatment on patient quality of life.
Delirium is a severe neuropsychiatric syndrome characterized by an acute change in attention, awareness and cognition and is caused by various medical conditions. This Primer reviews the epidemiology, pathophysiology, diagnosis and classification of delirium as well as its management approaches and discusses future directions in delirium research and treatment.
Functional abdominal pain disorders (FAPDs) are encountered by ~25% of infants and children globally. This Primer describes the four subtypes of paediatric FAPD, summarizing the current understanding of its pathogenesis. Additionally, it outlines current approaches in diagnoses and treatment and discusses directions for future research.
This Primer on chronic rhinosinusitis summarizes the epidemiology, physiology, diagnosis and management of this disorder and discusses the quality of life of patients with this condition.
Neuromyelitis optica is an autoimmune disorder of the central nervous system characterized by episodes of optic neuritis and transverse myelitis. This Primer provides an overview of the epidemiology, pathophysiology, diagnosis and treatment of this disorder.
The majority of individuals with cancer, notably those with breast or prostate cancer, will develop bone metastases. In this Primer, Coleman and colleagues discuss the epidemiology, pathophysiology and diagnosis of metastatic bone disease and highlight the specific treatment strategies to prevent disease progression and to manage skeletal morbidities.
Pyoderma gangrenosum is a rare, non-infectious, inflammatory skin condition characterized by rapidly developing, painful ulcers. This Primer provides an overview of the epidemiology, pathophysiology, diagnosis and treatment of the disease.
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited genetic diseases characterized by mucocutaneous fragility and blister formation. This Primer describes the broad phenotypic spectrum of EB, including its potentially severe extracutaneous manifestations, as well as outlining the current mechanistic understanding and approaches to managing patients.
Motile ciliopathies are rare genetic diseases that result in defective beating of motile cilia on epithelial cells. The pathogenetic mechanisms and clinical manifestations depend on the specific mutated gene and the affected tissues. When mucociliary clearance in respiratory epithelia is impaired, the disease is called primary ciliary dyskinesia.
Ulcerative colitis is a chronic inflammatory bowel disease affecting the rectum and the colon. This Primer describes the epidemiology, the current understanding of ulcerative colitis pathophysiology and its diagnosis. In addition, Hibi and colleagues highlight the current and emerging therapeutic strategies and discuss the most pressing questions in the field.
The anti-neutrophil cytoplasmic antibody-associated vasculitides (AAVs) are autoimmune disorders characterized by inflammation and destruction of small blood vessels. In this Primer, the authors discuss the classification of AAVs and the pathogenetic mechanisms, diagnosis and treatment of these debilitating conditions.
Major depressive disorder is common in patients with medical diseases and accounts for a substantial part of the psychosocial burden of these diseases. This Primer discusses the epidemiology, mechanisms, diagnosis and treatment of comorbid depression in patients with medical diseases.
Podocytopathies are kidney diseases in which podocyte injury drives proteinuria or nephrotic syndrome. This Primer discusses a shift in paradigm from patient stratification based on kidney biopsy findings towards personalized management based on clinical, morphological and genetic data.
Hypersensitivity pneumonitis (HP) is a complex syndrome caused by the inhalation of a variety of environmental antigens in susceptible and sensitized individuals. This Primer discusses recent advances in our understanding of HP epidemiology and pathogenesis as well as the current diagnostic and therapeutic modalities.
The Ehlers–Danlos syndromes are a group of genetically heterogeneous connective tissue disorders with a wide range of clinical manifestations. This Primer discusses the epidemiology, mechanisms, diagnosis and treatment of these syndromes.
Hodgkin lymphoma (HL) is a B cell lymphoma characterized by few, large, multinucleated malignant cells in the tumour microenvironment, which is rich in normal immune effector cells. HL mostly occurs in young adults and has high cure rates.
Long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome are rare but potentially life-threatening inherited cardiac arrhythmias. These disorders are caused by mutations in several genes encoding ion channels or proteins involved in their regulation.
