Primers

  • Primer |

    Hepatitis E virus (HEV) infection is often asymptomatic but can lead to acute and chronic hepatitis as well as to extrahepatic manifestations such as neurological or renal disease and pregnancy complications. In this Primer, Kamar et al. describe the epidemiology, pathophysiology, diagnosis and management of HEV infection.

    • Nassim Kamar
    • , Jacques Izopet
    • , Nicole Pavio
    • , Rakesh Aggarwal
    • , Alain Labrique
    • , Heiner Wedemeyer
    •  & Harry R. Dalton
  • Primer |

    Rotaviruses are double-stranded RNA viruses that are a leading cause of severe, dehydrating gastroenteritis in children <5 years of age. This Primer gives an overview of the pathophysiology of rotavirus infection and describes how the introduction of vaccinations has altered the epidemiology and demographics of this disease.

    • Sue E. Crawford
    • , Sasirekha Ramani
    • , Jacqueline E. Tate
    • , Umesh D. Parashar
    • , Lennart Svensson
    • , Marie Hagbom
    • , Manuel A. Franco
    • , Harry B. Greenberg
    • , Miguel O'Ryan
    • , Gagandeep Kang
    • , Ulrich Desselberger
    •  & Mary K. Estes
  • Primer |

    Functional dyspepsia is a functional gastrointestinal disorder characterized by discomfort or pain in the upper abdomen (generally associated with food intake) with no apparent underlying organic cause. The three subtypes of functional dyspepsia are postprandial distress syndrome, epigastric pain syndrome and a subtype with mixed features.

    • Paul Enck
    • , Fernando Azpiroz
    • , Guy Boeckxstaens
    • , Sigrid Elsenbruch
    • , Christine Feinle-Bisset
    • , Gerald Holtmann
    • , Jeffrey M. Lackner
    • , Jukka Ronkainen
    • , Michael Schemann
    • , Andreas Stengel
    • , Jan Tack
    • , Stephan Zipfel
    •  & Nicholas J. Talley
  • Primer |

    Merkel cell carcinoma (MCC) is a rare, highly metastatic skin cancer. MCC pathogenesis is associated with either the presence of Merkel cell polyomavirus or chronic exposure to ultraviolet light, which can cause a characteristic pattern of multiple DNA mutations.

    • Jürgen C. Becker
    • , Andreas Stang
    • , James A. DeCaprio
    • , Lorenzo Cerroni
    • , Celeste Lebbé
    • , Michael Veness
    •  & Paul Nghiem
  • Primer |

    Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by progressive lung scarring that is thought to occur in a genetically susceptible, ageing individual through aberrant reparative responses to repeated injury to the alveolar epithelium. This Primer summarizes the processes thought to underlie the development of IPF and clinical challenges faced in treating patients with this irreversible condition.

    • Fernando J. Martinez
    • , Harold R. Collard
    • , Annie Pardo
    • , Ganesh Raghu
    • , Luca Richeldi
    • , Moises Selman
    • , Jeffrey J. Swigris
    • , Hiroyuki Taniguchi
    •  & Athol U. Wells
  • Primer |

    Syphilis is a sexually and vertically transmitted infection caused by Treponema pallidum. Although curable, syphilis is re-emerging as a global public health problem, particularly among men who have sex with men in developed countries, and as a major cause of stillbirths and neonatal deaths in developing nations. This Primer summarizes our current understanding of the pathogen and describes ongoing efforts towards global elimination.

    • Rosanna W. Peeling
    • , David Mabey
    • , Mary L. Kamb
    • , Xiang-Sheng Chen
    • , Justin D. Radolf
    •  & Adele S. Benzaken
  • Primer |

    Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which leads to progressive muscle weakness and paralysis. This Primer by Hardiman and colleagues provides a detailed overview of the epidemiology, pathophysiology and diagnosis of ALS, and discusses the management of both the motor and non-motor symptoms of this condition.

    • Orla Hardiman
    • , Ammar Al-Chalabi
    • , Adriano Chio
    • , Emma M. Corr
    • , Giancarlo Logroscino
    • , Wim Robberecht
    • , Pamela J. Shaw
    • , Zachary Simmons
    •  & Leonard H. van den Berg
  • Primer |

    Fragile X syndrome (FXS) is characterized by severe behavioural alterations, such as hyperactivity, anxiety and symptoms of autism spectrum disorder. These behavioural manifestations, in addition to the molecular pathophysiology, diagnosis and management of FXS, are reviewed in this Primer.

    • Randi J. Hagerman
    • , Elizabeth Berry-Kravis
    • , Heather Cody Hazlett
    • , Donald B. Bailey Jr
    • , Herve Moine
    • , R. Frank Kooy
    • , Flora Tassone
    • , Ilse Gantois
    • , Nahum Sonenberg
    • , Jean Louis Mandel
    •  & Paul J. Hagerman
  • Primer |

    Children with severe malnutrition (which includes severe wasting and kwashiorkor) have an elevated risk of serious illness and death, primarily from acute infectious diseases. In this Primer, the authors describe the multifactorial aetiology of severe malnutrition and the efforts needed to meet the United Nations’ Sustainable Development Goal of zero hunger.

    • Zulfiqar A. Bhutta
    • , James A. Berkley
    • , Robert H. J. Bandsma
    • , Marko Kerac
    • , Indi Trehan
    •  & André Briend
  • Primer |

    Snakebite envenoming is a neglected tropical disease that particularly affects impoverished populations in the rural tropics. This Primer describes the efforts toward reducing the burden of snakebites, which require input from private, public and non-profit stakeholders worldwide.

    • José María Gutiérrez
    • , Juan J. Calvete
    • , Abdulrazaq G. Habib
    • , Robert A. Harrison
    • , David J. Williams
    •  & David A. Warrell
  • Primer |

    Chronic pancreatitis is characterized by chronic inflammation of the pancreas that results in progressive scarring of the pancreatic tissue, pain and pancreatic gland dysfunction. In this Primer, Kleeff et al. describe the current understanding of chronic pancreatitis and its complications.

    • Jorg Kleeff
    • , David C. Whitcomb
    • , Tooru Shimosegawa
    • , Irene Esposito
    • , Markus M. Lerch
    • , Thomas Gress
    • , Julia Mayerle
    • , Asbjørn Mohr Drewes
    • , Vinciane Rebours
    • , Fatih Akisik
    • , J. Enrique Domínguez Muñoz
    •  & John P. Neoptolemos
  • Primer |

    Hypoparathyroidism is a disease characterized by inadequately low circulating levels of parathyroid hormone resulting in low calcium levels and increased phosphate levels in the blood. In this Primer, Mannstadt et al. summarize current knowledge of the prevalence, pathophysiology, clinical presentation and management of hypoparathyroidism.

    • Michael Mannstadt
    • , John P. Bilezikian
    • , Rajesh V. Thakker
    • , Fadil M. Hannan
    • , Bart L. Clarke
    • , Lars Rejnmark
    • , Deborah M. Mitchell
    • , Tamara J. Vokes
    • , Karen K. Winer
    •  & Dolores M. Shoback
  • Primer |

    Heart failure can be broadly divided into two categories: heart failure with preserved ejection fraction and heart failure with reduced ejection fraction (HFrEF). HFrEF accounts for approximately 50% of all cases of heart failure in the United States and is the focus of this Primer by Butler and colleagues.

    • Michelle W. Bloom
    • , Barry Greenberg
    • , Tiny Jaarsma
    • , James L. Januzzi
    • , Carolyn S. P. Lam
    • , Aldo P. Maggioni
    • , Jean-Noël Trochu
    •  & Javed Butler
  • Primer |

    Osteogenesis imperfecta — also known as brittle bone disease — is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. In this Primer, Marini et al. provide an overview of the epidemiology, genetics, pathophysiology, diagnosis and management of osteogenesis imperfecta.

    • Joan C. Marini
    • , Antonella Forlino
    • , Hans Peter Bächinger
    • , Nick J. Bishop
    • , Peter H. Byers
    • , Anne De Paepe
    • , Francois Fassier
    • , Nadja Fratzl-Zelman
    • , Kenneth M. Kozloff
    • , Deborah Krakow
    • , Kathleen Montpetit
    •  & Oliver Semler
  • Primer |

    Malaria is a mosquito-transmitted infection that affects more than 200 million people worldwide, with the highest morbidity and mortality in Africa. Elimination, through vector control approaches and chemoprevention, is within reach, but is threatened by the emergence of drug-resistant strains of mosquitoes and Plasmodium spp., the infectious parasite.

    • Margaret A. Phillips
    • , Jeremy N. Burrows
    • , Christine Manyando
    • , Rob Hooft van Huijsduijnen
    • , Wesley C. Van Voorhis
    •  & Timothy N. C. Wells
  • Primer |

    Oesophageal cancer is the sixth most common cause of cancer-related death worldwide and comprises two major subtypes — oesophageal squamous cell carcinoma and oesophageal adenocarcinoma — which are epidemiologically and biologically distinct. In this Primer, Cunningham and colleagues describe the epidemiology, pathophysiology and management of oesophageal cancer.

    • Elizabeth C. Smyth
    • , Jesper Lagergren
    • , Rebecca C. Fitzgerald
    • , Florian Lordick
    • , Manish A. Shah
    • , Pernilla Lagergren
    •  & David Cunningham
  • Primer |

    Multiple myeloma — a malignancy of terminally differentiated plasma cells — is the second most common haematological malignancy. This Primer by Kumar et al. highlights the mechanisms and epidemiology of multiple myeloma, and describes how updates to the diagnostic criteria have impacted patient management.

    • Shaji K. Kumar
    • , Vincent Rajkumar
    • , Robert A. Kyle
    • , Mark van Duin
    • , Pieter Sonneveld
    • , María-Victoria Mateos
    • , Francesca Gay
    •  & Kenneth C. Anderson
  • Primer |

    Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23. Clinically, TIO is associated with hypophosphataemia and skeletal abnormalities. This Primer focuses on the epidemiological, pathophysiological, diagnostic and clinical aspects of TIO.

    • Salvatore Minisola
    • , Munro Peacock
    • , Seijii Fukumoto
    • , Cristiana Cipriani
    • , Jessica Pepe
    • , Sri Harsha Tella
    •  & Michael T. Collins
  • Primer |

    Urinary incontinence symptoms in women are prevalent and substantially affect health-related quality of life. These issues are compounded by the limited attention that urinary incontinence receives at the policy or research-funding levels. Despite these challenges, the field has witnessed considerable innovations in practice over the past decade, which are summarized in this Primer.

    • Yoshitaka Aoki
    • , Heidi W. Brown
    • , Linda Brubaker
    • , Jean Nicolas Cornu
    • , J. Oliver Daly
    •  & Rufus Cartwright
  • Primer |

    Vitamin B12 (also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. In this Primer, Green et al. describe the causes, consequences and management of vitamin B12 deficiency.

    • Ralph Green
    • , Lindsay H. Allen
    • , Anne-Lise Bjørke-Monsen
    • , Alex Brito
    • , Jean-Louis Guéant
    • , Joshua W. Miller
    • , Anne M. Molloy
    • , Ebba Nexo
    • , Sally Stabler
    • , Ban-Hock Toh
    • , Per Magne Ueland
    •  & Chittaranjan Yajnik
  • Primer |

    Periodontal diseases are characterized by inflammation and loss of the tissues supporting the teeth, which could lead to eating and speaking problems. Although some risk factors are non-modifiable (for example, genetic susceptibility), others, such as smoking, can be effectively managed.

    • Denis F. Kinane
    • , Panagiota G. Stathopoulou
    •  & Panos N. Papapanou
  • Primer |

    Obesity is considered to be an epidemic of the 21st century; >2 billion individuals are considered to be overweight or obese globally. In this Primer, Martinez and colleagues discuss obesity and its association with pathophysiological abnormalities that increase health risk, such as features of the metabolic syndrome.

    • Pedro González-Muniesa
    • , Miguel-Angel Mártinez-González
    • , Frank B. Hu
    • , Jean-Pierre Després
    • , Yuji Matsuzawa
    • , Ruth J. F. Loos
    • , Luis A. Moreno
    • , George A. Bray
    •  & J. Alfredo Martinez
  • Primer |

    Granulopoiesis arrest in the bone marrow at the promyelocyte level is the hallmark of severe congenital neutropenias. Patients have an increased risk of infections and leukaemic progression; granulocyte colony-stimulating factor therapy can restore neutrophil counts in most cases.

    • Julia Skokowa
    • , David C. Dale
    • , Ivo P. Touw
    • , Cornelia Zeidler
    •  & Karl Welte
  • Primer |

    In recent years, the molecular characterization of gastric adenocarcinoma — the most common stomach cancer — has identified numerous targets for potential exploitation into therapy. However, advances are still lagging compared with other cancers of similar incidence. In this Primer, Ajani et al. describe these advances and the work still needed to be done.

    • Jaffer A. Ajani
    • , Jeeyun Lee
    • , Takeshi Sano
    • , Yelena Y. Janjigian
    • , Daiming Fan
    •  & Shumei Song
  • Primer |

    The formation of dental caries involves the interaction between the tooth, the microbial biofilm at the tooth surface and dietary sugars. This Primer by Pitts et al. aims to provide a global overview of caries, focusing on current, patient-centred, tooth-preserving preventive care.

    • Nigel B. Pitts
    • , Domenick T. Zero
    • , Phil D. Marsh
    • , Kim Ekstrand
    • , Jane A. Weintraub
    • , Francisco Ramos-Gomez
    • , Junji Tagami
    • , Svante Twetman
    • , Georgios Tsakos
    •  & Amid Ismail