Primers

  • 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 Reijnmark
    • , 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
  • Primer |

    Anaemia, thrombosis and smooth muscle dystonias are manifestations of paroxysmal nocturnal haemoglobinuria, a rare but potentially life-threatening haematological disorder. Inhibition of complement activation is the treatment of choice; stem cell transplantation is recommended for patients who also develop severe bone marrow failure.

    • Anita Hill
    • , Amy E. DeZern
    • , Taroh Kinoshita
    •  & Robert A. Brodsky
  • Primer |

    Pemphigus is an autoimmune disorder characterized by blisters in the oral mucosa and epidermis. Acantholysis (loss of cell adhesion, which results in blisters) is caused by the presence of autoantibodies that target desmosomal proteins, in particular, desmoglein 1 and desmoglein 3.

    • Michael Kasperkiewicz
    • , Christoph T. Ellebrecht
    • , Hayato Takahashi
    • , Jun Yamagami
    • , Detlef Zillikens
    • , Aimee S. Payne
    •  & Masayuki Amagai
  • Primer |

    Anxiety disorders are characterized by prolonged fear or anxiety, the avoidance of perceived threats and, in some cases, panic attacks. Here, Craske et al. discuss the mechanisms, diagnosis and management of anxiety disorders, and provide an overview of the quality-of-life issues faced by patients.

    • Michelle G. Craske
    • , Murray B. Stein
    • , Thalia C. Eley
    • , Mohammed R. Milad
    • , Andrew Holmes
    • , Ronald M. Rapee
    •  & Hans-Ulrich Wittchen
  • Primer |

    Spinal cord injury (SCI) can be divided into traumatic and non-traumatic aetiologies. This Primer focuses on traumatic SCI, which is caused by an external physical impact to the spinal cord and can lead to permanent, severe neurological deficits.

    • Christopher S. Ahuja
    • , Jefferson R. Wilson
    • , Satoshi Nori
    • , Mark R. N. Kotter
    • , Claudia Druschel
    • , Armin Curt
    •  & Michael G. Fehlings
  • Primer |

    Urothelial bladder cancer is one of the most common, and most deadly, malignant diseases worldwide. This Primer summarizes the current epidemiological and outcome data of patients with this disease, as well as describing how new molecular subtyping strategies might improve patient care in the future.

    • Oner Sanli
    • , Jakub Dobruch
    • , Margaret A. Knowles
    • , Maximilian Burger
    • , Mehrdad Alemozaffar
    • , Matthew E. Nielsen
    •  & Yair Lotan
  • Primer |

    Haemolytic anaemia, thrombocytopenia and microthrombi are hallmarks of thrombotic thrombocytopenic purpura (TTP), a rare microangiopathy that can cause severe ischaemic organ damage. The majority of cases have an autoimmune aetiology and, therefore, can be managed with immunosuppressive drugs, in addition to plasma therapy.

    • Johanna A. Kremer Hovinga
    • , Paul Coppo
    • , Bernhard Lämmle
    • , Joel L. Moake
    • , Toshiyuki Miyata
    •  & Karen Vanhoorelbeke
  • Primer |

    Type 1 diabetes mellitus is an autoimmune disease that is characterized by insulin deficiency due to pancreatic β-cell loss and results in hyperglycaemia. This Primer by Lernmark and colleagues describes this chronic disorder, which requires lifelong insulin administration and affects >500,000 children worldwide.

    • Anastasia Katsarou
    • , Soffia Gudbjörnsdottir
    • , Araz Rawshani
    • , Dana Dabelea
    • , Ezio Bonifacio
    • , Barbara J. Anderson
    • , Laura M. Jacobsen
    • , Desmond A. Schatz
    •  & Åke Lernmark
  • Primer |

    Parkinson disease is a common neurodegenerative disorder that is characterized by neuronal loss in the substantia nigra, which causes striatal dopamine deficiency. In this Primer, Poewe et al. discuss the epidemiology, pathophysiology, diagnosis and management of Parkinson disease.

    • Werner Poewe
    • , Klaus Seppi
    • , Caroline M. Tanner
    • , Glenda M. Halliday
    • , Patrik Brundin
    • , Jens Volkmann
    • , Anette-Eleonore Schrag
    •  & Anthony E. Lang