Primers

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  • Primer |

    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.

    • Jean Bousquet
    • , Josep M. Anto
    • , Claus Bachert
    • , Ilaria Baiardini
    • , Sinthia Bosnic-Anticevich
    • , G. Walter Canonica
    • , Erik Melén
    • , Oscar Palomares
    • , Glenis K. Scadding
    • , Alkis Togias
    •  & Sanna Toppila-Salmi
  • Primer |

    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.

    • Daniel E. Johnson
    • , Barbara Burtness
    • , C. René Leemans
    • , Vivian Wai Yan Lui
    • , Julie E. Bauman
    •  & Jennifer R. Grandis
  • Primer |

    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.

    • Jo Ellen Wilson
    • , Matthew F. Mart
    • , Colm Cunningham
    • , Yahya Shehabi
    • , Timothy D. Girard
    • , Alasdair M. J. MacLullich
    • , Arjen J. C. Slooter
    •  & E. Wesley Ely
  • Primer |

    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.

    • Nikhil Thapar
    • , Marc A. Benninga
    • , Michael D. Crowell
    • , Carlo Di Lorenzo
    • , Isabelle Mack
    • , Samuel Nurko
    • , Miguel Saps
    • , Robert J. Shulman
    • , Hania Szajewska
    • , Miranda A. L. van Tilburg
    •  & Paul Enck
  • Primer |

    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.

    • Claus Bachert
    • , Bradley Marple
    • , Rodney J. Schlosser
    • , Claire Hopkins
    • , Robert P. Schleimer
    • , Bart N. Lambrecht
    • , Barbara M. Bröker
    • , Tanya Laidlaw
    •  & Woo-Jung Song
  • Primer |

    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.

    • Sven Jarius
    • , Friedemann Paul
    • , Brian G. Weinshenker
    • , Michael Levy
    • , Ho Jin Kim
    •  & Brigitte Wildemann
  • Primer |

    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.

    • Robert E. Coleman
    • , Peter I. Croucher
    • , Anwar R. Padhani
    • , Philippe Clézardin
    • , Edward Chow
    • , Marie Fallon
    • , Theresa Guise
    • , Simone Colangeli
    • , Rodolfo Capanna
    •  & Luis Costa
  • Primer |

    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.

    • Emanual Maverakis
    • , Angelo V. Marzano
    • , Stephanie T. Le
    • , Jeffrey P. Callen
    • , Marie-Charlotte Brüggen
    • , Emmanuella Guenova
    • , Joachim Dissemond
    • , Kanade Shinkai
    •  & Sinéad M. Langan
  • Primer |

    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.

    • Ajoy Bardhan
    • , Leena Bruckner-Tuderman
    • , Iain L. C. Chapple
    • , Jo-David Fine
    • , Natasha Harper
    • , Cristina Has
    • , Thomas M. Magin
    • , M. Peter Marinkovich
    • , John F. Marshall
    • , John A. McGrath
    • , Jemima E. Mellerio
    • , Rex Polson
    •  & Adrian H. Heagerty
  • Primer |

    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.

    • Julia Wallmeier
    • , Kim G. Nielsen
    • , Claudia E. Kuehni
    • , Jane S. Lucas
    • , Margaret W. Leigh
    • , Maimoona A. Zariwala
    •  & Heymut Omran
  • Primer |

    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.

    • Taku Kobayashi
    • , Britta Siegmund
    • , Catherine Le Berre
    • , Shu Chen Wei
    • , Marc Ferrante
    • , Bo Shen
    • , Charles N. Bernstein
    • , Silvio Danese
    • , Laurent Peyrin-Biroulet
    •  & Toshifumi Hibi
  • Primer |

    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.

    • A. Richard Kitching
    • , Hans-Joachim Anders
    • , Neil Basu
    • , Elisabeth Brouwer
    • , Jennifer Gordon
    • , David R. Jayne
    • , Joyce Kullman
    • , Paul A. Lyons
    • , Peter A. Merkel
    • , Caroline O. S. Savage
    • , Ulrich Specks
    •  & Renate Kain
  • Primer |

    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.

    • Stefan M. Gold
    • , Ole Köhler-Forsberg
    • , Rona Moss-Morris
    • , Anja Mehnert
    • , J. Jaime Miranda
    • , Monika Bullinger
    • , Andrew Steptoe
    • , Mary A. Whooley
    •  & Christian Otte
  • Primer |

    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.

    • Jeffrey B. Kopp
    • , Hans-Joachim Anders
    • , Katalin Susztak
    • , Manuel A. Podestà
    • , Giuseppe Remuzzi
    • , Friedhelm Hildebrandt
    •  & Paola Romagnani
  • Primer |

    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.

    • Ulrich Costabel
    • , Yasunari Miyazaki
    • , Annie Pardo
    • , Dirk Koschel
    • , Francesco Bonella
    • , Paolo Spagnolo
    • , Josune Guzman
    • , Christopher J. Ryerson
    •  & Moises Selman
  • Primer |

    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.

    • Fransiska Malfait
    • , Marco Castori
    • , Clair A. Francomano
    • , Cecilia Giunta
    • , Tomoki Kosho
    •  & Peter H. Byers
  • Primer |

    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.

    • Joseph M. Connors
    • , Wendy Cozen
    • , Christian Steidl
    • , Antonino Carbone
    • , Richard T. Hoppe
    • , Hans-Henning Flechtner
    •  & Nancy L. Bartlett
  • Primer |

    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.

    • Peter J. Schwartz
    • , Michael J. Ackerman
    • , Charles Antzelevitch
    • , Connie R. Bezzina
    • , Martin Borggrefe
    • , Bettina F. Cuneo
    •  & Arthur A. M. Wilde
  • Primer |

    Autoimmune gastritis (AIG) is a chronic, autoimmune disease characterized by atrophy of the oxyntic glands of the stomach. In this Primer, Di Sabatino and colleagues discuss the epidemiology, novel insights in AIG pathogenesis, diagnostic challenges and current therapeutic options.

    • Marco Vincenzo Lenti
    • , Massimo Rugge
    • , Edith Lahner
    • , Emanuela Miceli
    • , Ban-Hock Toh
    • , Robert M. Genta
    • , Christophe De Block
    • , Chaim Hershko
    •  & Antonio Di Sabatino
  • Primer |

    Graves’ disease is an autoimmune disease caused by autoantibodies to the thyroid-stimulating hormone receptor, causing hyperthyroidism. In this Primer, Davies and colleagues discuss the epidemiology, pathophysiology and diagnosis of Graves’ disease and highlight the need for better therapeutics for its management.

    • Terry F. Davies
    • , Stig Andersen
    • , Rauf Latif
    • , Yuji Nagayama
    • , Giuseppe Barbesino
    • , Maria Brito
    • , Anja K. Eckstein
    • , Alex Stagnaro-Green
    •  & George J. Kahaly
  • Primer |

    HIV and antiretroviral therapy-related fat alterations are frequent in people living with HIV and include fat loss, fat gain and obesity. This Primer discusses the changing epidemiology, mechanisms, diagnosis and treatment of these alterations.

    • John R. Koethe
    • , Claire Lagathu
    • , Jordan E. Lake
    • , Pere Domingo
    • , Alexandra Calmy
    • , Julian Falutz
    • , Todd T. Brown
    •  & Jacqueline Capeau
  • Primer |

    Corneal dystrophies are bilateral, progressive inherited disorders affecting any part of the cornea. In this Primer, the authors review the different types of corneal dystrophy, their epidemiology, diagnosis and treatment, and discuss novel treatments that are in development.

    • Yu Qiang Soh
    • , Viridiana Kocaba
    • , Jayne S. Weiss
    • , Ula V. Jurkunas
    • , Shigeru Kinoshita
    • , Anthony J. Aldave
    •  & Jodhbir S. Mehta
  • Primer |

    Whipworm and roundworm infections are neglected tropical diseases caused by the gastrointestinal nematode parasites Trichuris trichiura and Ascaris lumbricoides, respectively. These soil-transmitted helminths are prevalent in tropical areas and affect hundreds of millions of people, with substantial morbidity and disease burden.

    • Kathryn J. Else
    • , Jennifer Keiser
    • , Celia V. Holland
    • , Richard K. Grencis
    • , David B. Sattelle
    • , Ricardo T. Fujiwara
    • , Lilian L. Bueno
    • , Samuel O. Asaolu
    • , Oluyomi A. Sowemimo
    •  & Philip J. Cooper
  • Primer |

    This Primer by Umpierrez and colleagues reviews the epidemiology, pathophysiology, diagnosis and management of diabetic ketoacidosis, the most common acute hyperglycaemic emergency in people with diabetes mellitus. Additionally, the authors also discuss different strategies that can be implemented to prevent recurrent diabetic ketoacidosis episodes.

    • Ketan K. Dhatariya
    • , Nicole S. Glaser
    • , Ethel Codner
    •  & Guillermo E. Umpierrez
  • Primer |

    Checkpoint inhibitors are increasingly being used in clinical practice; however, these therapies can be associated with adverse events that can affect almost any organ system. This Primer by Ramos-Casals and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of these adverse events.

    • Manuel Ramos-Casals
    • , Julie R. Brahmer
    • , Margaret K. Callahan
    • , Alejandra Flores-Chávez
    • , Niamh Keegan
    • , Munther A. Khamashta
    • , Olivier Lambotte
    • , Xavier Mariette
    • , Aleix Prat
    •  & Maria E. Suárez-Almazor
  • Primer |

    This Primer by Bergeron and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of vulvodynia, a condition that is characterized by pain in the vulva.

    • Sophie Bergeron
    • , Barbara D. Reed
    • , Ursula Wesselmann
    •  & Nina Bohm-Starke
  • Primer |

    Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. This Primer describes the clinical and biological features of primary UM, and highlights how therapies to prevent and treat the (currently) deadly metastases are urgently needed.

    • Martine J. Jager
    • , Carol L. Shields
    • , Colleen M. Cebulla
    • , Mohamed H. Abdel-Rahman
    • , Hans E. Grossniklaus
    • , Marc-Henri Stern
    • , Richard D. Carvajal
    • , Rubens N. Belfort
    • , Renbing Jia
    • , Jerry A. Shields
    •  & Bertil E. Damato
  • Primer |

    Crohn’s disease is a progressive, destructive inflammatory bowel disease of unclear cause and involves chronic inflammation of any part of the gastrointestinal tract. This Primer reviews the epidemiology, pathophysiology, diagnosis and management of this disease.

    • Giulia Roda
    • , Siew Chien Ng
    • , Paulo Gustavo Kotze
    • , Marjorie Argollo
    • , Remo Panaccione
    • , Antonino Spinelli
    • , Arthur Kaser
    • , Laurent Peyrin-Biroulet
    •  & Silvio Danese
  • Primer |

    Colonic diverticular disease, characterized by sac-like protrusions on the wall of the large intestine, is one of the most common conditions detected on colonoscopy in the adult population. This Primer by Tursi and colleagues reviews the epidemiology, pathophysiology, diagnosis and management of this disease.

    • Antonio Tursi
    • , Carmelo Scarpignato
    • , Lisa L. Strate
    • , Angel Lanas
    • , Wolfgang Kruis
    • , Adi Lahat
    •  & Silvio Danese
  • Primer |

    Hidradenitis suppurativa is a debilitating chronic inflammatory disorder affecting the intertriginous skin characterized by localized skin lesions associated with numerous systemic comorbidities. The current health care of patients signals an enormous need for awareness and novel treatments. In this Primer, Sabat and colleagues review the epidemiology, pathophysiology, diagnosis and the various approaches for the management of this complex disease.

    • Robert Sabat
    • , Gregor B. E. Jemec
    • , Łukasz Matusiak
    • , Alexa B. Kimball
    • , Errol Prens
    •  & Kerstin Wolk
  • Primer |

    Acute heart failure (AHF) is a syndrome characterized by signs and symptoms of heart failure (typically systemic congestion) that occurs in the presence of an underlying cardiac dysfunction (previously diagnosed, undiagnosed or new-onset) and precipitating factors. AHF is associated with high mortality and hospital readmission rates.

    • Mattia Arrigo
    • , Mariell Jessup
    • , Wilfried Mullens
    • , Nosheen Reza
    • , Ajay M. Shah
    • , Karen Sliwa
    •  & Alexandre Mebazaa
  • Primer |

    Ebola virus disease (EVD) is caused by the filovirus Ebola virus (EBOV). Although the natural host of EBOV is undefined, a single zoonotic transmission is the probable start of most EVD outbreaks. EVD is characterized by gastrointestinal manifestations and multiple organ dysfunction syndrome and has a high case–fatality rate.

    • Shevin T. Jacob
    • , Ian Crozier
    • , William A. Fischer II
    • , Angela Hewlett
    • , Colleen S. Kraft
    • , Marc-Antoine de La Vega
    • , Moses J. Soka
    • , Victoria Wahl
    • , Anthony Griffiths
    • , Laura Bollinger
    •  & Jens H. Kuhn
  • Primer |

    Burn injuries, particularly severe burns, are accompanied by a metabolic, immune and inflammatory response that can be challenging to manage, often leading to multiple organ failure or even death. This Primer discusses aspects of burn injury, from prevention to care of patients from both an acute and a long-term perspective.

    • Marc G. Jeschke
    • , Margriet E. van Baar
    • , Mashkoor A. Choudhry
    • , Kevin K. Chung
    • , Nicole S. Gibran
    •  & Sarvesh Logsetty
  • Primer |

    Lupus nephritis is an inflammation of the kidneys caused by the autoimmune disease systemic lupus erythematosus. This Primer reviews the epidemiology of lupus nephritis, its pathogenesis and advances in its treatment.

    • Hans-Joachim Anders
    • , Ramesh Saxena
    • , Ming-hui Zhao
    • , Ioannis Parodis
    • , Jane E. Salmon
    •  & Chandra Mohan
  • Primer |

    Autism spectrum disorder — or autism — is a neurodevelopmental disorder that typically manifests in young children. This Primer by Lord and colleagues reviews the epidemiology, mechanisms, clinical detection and treatment of autism.

    • Catherine Lord
    • , Traolach S. Brugha
    • , Tony Charman
    • , James Cusack
    • , Guillaume Dumas
    • , Thomas Frazier
    • , Emily J. H. Jones
    • , Rebecca M. Jones
    • , Andrew Pickles
    • , Matthew W. State
    • , Julie Lounds Taylor
    •  & Jeremy Veenstra-VanderWeele
  • Primer |

    The ongoing epidemic of opioid use disorder includes, in addition to increasing global use of illicitly manufactured heroin and other opioids, a public health crisis aggravated by the over-prescribing of opioid pain medications, in North America particularly. This Primer by Strang, Volkow and colleagues discusses the risk factors of opioid use disorder, together with its epidemiology, mechanisms, diagnosis and treatment.

    • John Strang
    • , Nora D. Volkow
    • , Louisa Degenhardt
    • , Matthew Hickman
    • , Kimberly Johnson
    • , George F. Koob
    • , Brandon D. L. Marshall
    • , Mark Tyndall
    •  & Sharon L. Walsh
  • Primer |

    Gastrointestinal pain is common in some disorders, such as Crohn’s disease and pancreatitis. This Primer discusses the challenges in identifying the causes, particularly in patients in which multiple aetiologies coexist, as well as the treatment options.

    • Asbjørn M. Drewes
    • , Anne E. Olesen
    • , Adam D. Farmer
    • , Eva Szigethy
    • , Vinciane Rebours
    •  & Søren S. Olesen
  • Primer |

    Down syndrome (DS) is a genetic disorder caused by trisomy 21, the presence of a supernumerary chromosome 21, which results in physical and neurocognitive alterations. This Primer reviews the epidemiology of DS, the steadily increasing insights into its pathogenesis and how these are translating into improved treatments.

    • Stylianos E. Antonarakis
    • , Brian G. Skotko
    • , Michael S. Rafii
    • , Andre Strydom
    • , Sarah E. Pape
    • , Diana W. Bianchi
    • , Stephanie L. Sherman
    •  & Roger H. Reeves
  • Primer |

    Follicular lymphoma is an indolent malignancy composed of transformed follicular germinal centre B cells. In this Primer, Carbone and colleagues discuss the epidemiology, mechanisms and the recent developments in the treatment of this disease.

    • Antonino Carbone
    • , Sandrine Roulland
    • , Annunziata Gloghini
    • , Anas Younes
    • , Gottfried von Keudell
    • , Armando López-Guillermo
    •  & Jude Fitzgibbon
  • Primer |

    Diphtheria is a respiratory infection typically caused by toxigenic Corynebacterium diphtheriae strains; it prevalently affects children and can be fatal. Diphtheria can by effectively prevented by vaccination, but decreasing levels of vaccine coverage in several countries are promoting the resurgence of the disease.

    • Naresh Chand Sharma
    • , Androulla Efstratiou
    • , Igor Mokrousov
    • , Ankur Mutreja
    • , Bhabatosh Das
    •  & Thandavarayan Ramamurthy
  • Primer |

    Gonorrhoea is a sexually transmitted infection caused by the bacterium Neisseria gonorrhoeae that affects millions of people worldwide, and its incidence is increasing in many settings. The emergence and spread of antimicrobial resistance in N. gonorrhoeae threatens to leave affected individuals with no effective treatments.

    • Magnus Unemo
    • , H Steven Seifert
    • , Edward W. Hook III
    • , Sarah Hawkes
    • , Francis Ndowa
    •  & Jo-Anne R. Dillon
  • Primer |

    This Primer by Thébaud and colleagues discusses the epidemiology, mechanisms, diagnosis and treatment of bronchopulmonary dysplasia, a type of lung disease that can occur in preterm infants.

    • Bernard Thébaud
    • , Kara N. Goss
    • , Matthew Laughon
    • , Jeffrey A. Whitsett
    • , Steven H. Abman
    • , Robin H. Steinhorn
    • , Judy L. Aschner
    • , Peter G. Davis
    • , Sharon A. McGrath-Morrow
    • , Roger F. Soll
    •  & Alan H. Jobe
  • Primer |

    Craniopharyngiomas are rare malformational intracranial tumours that arise along the craniopharyngeal duct. This Primer describes their formation, diagnosis and treatment, distinguishing between the two histological subtypes — adamantinomatous craniopharyngioma and papillary craniopharyngioma.

    • Hermann L. Müller
    • , Thomas E. Merchant
    • , Monika Warmuth-Metz
    • , Juan-Pedro Martinez-Barbera
    •  & Stephanie Puget
  • Primer |

    Suicide and suicidal behaviour continue to present key challenges for public policy and health services. This Primer discusses the global burden of suicide and suicidal behaviours, and provides an overview of our current understanding of the mechanisms of suicide, including risk factors for suicidal ideation and the transition from ideation to suicide attempt.

    • Gustavo Turecki
    • , David A. Brent
    • , David Gunnell
    • , Rory C. O’Connor
    • , Maria A. Oquendo
    • , Jane Pirkis
    •  & Barbara H. Stanley
  • Primer |

    Stroke is the second leading cause of death worldwide, and ischaemic stroke accounts for 71% of cases. This Primer by Campbell and colleagues discusses the epidemiology, mechanisms, diagnosis, prevention and treatment of ischaemic stroke.

    • Bruce C. V. Campbell
    • , Deidre A. De Silva
    • , Malcolm R. Macleod
    • , Shelagh B. Coutts
    • , Lee H. Schwamm
    • , Stephen M. Davis
    •  & Geoffrey A. Donnan
  • Primer |

    Gout is a chronic form of arthritis caused by an inflammatory response to deposited monosodium urate crystals. This Primer discusses the epidemiology and pathogenesis of gout and evolving approaches for management of the disease.

    • Nicola Dalbeth
    • , Hyon K. Choi
    • , Leo A. B. Joosten
    • , Puja P. Khanna
    • , Hirotaka Matsuo
    • , Fernando Perez-Ruiz
    •  & Lisa K. Stamp
  • Primer |

    Breast cancer is the most frequent malignancy in women worldwide. Patients are managed on the basis of the key molecular and histological features underpinning their disease and its stage. This Primer discusses these issues, covering both early and advanced disease.

    • Nadia Harbeck
    • , Frédérique Penault-Llorca
    • , Javier Cortes
    • , Michael Gnant
    • , Nehmat Houssami
    • , Philip Poortmans
    • , Kathryn Ruddy
    • , Janice Tsang
    •  & Fatima Cardoso
  • Primer |

    Fanconi anaemia, ataxia telangiectasia, Nijmegen breakage syndrome and Bloom syndrome are rare, clinically distinct, chromosome instability syndromes. This Primer describes the understanding of the genetic and molecular basis of these disorders, including the relationship of the defects to the predisposition to cancer.

    • A. Malcolm R. Taylor
    • , Cynthia Rothblum-Oviatt
    • , Nathan A. Ellis
    • , Ian D. Hickson
    • , Stefan Meyer
    • , Thomas O. Crawford
    • , Agata Smogorzewska
    • , Barbara Pietrucha
    • , Corry Weemaes
    •  & Grant S. Stewart
  • Primer |

    This Primer provides a comprehensive review of the current state of basic science and clinical knowledge on nausea and vomiting of pregnancy, and its extreme form hyperemesis gravidarum. Directions to focus on for future study are also discussed.

    • Marlena S. Fejzo
    • , Jone Trovik
    • , Iris J. Grooten
    • , Kannan Sridharan
    • , Tessa J. Roseboom
    • , Åse Vikanes
    • , Rebecca C. Painter
    •  & Patrick M. Mullin
  • Primer |

    Autosomal dominant tubulointerstitial disease (ADTKD) is an entity that includes rare kidney diseases caused by mutations in various genes that lead to inescapable progression to end-stage renal disease. This Primer highlights the different types of ADTKD and their distinct genetic and clinical features.

    • Olivier Devuyst
    • , Eric Olinger
    • , Stefanie Weber
    • , Kai-Uwe Eckardt
    • , Stanislav Kmoch
    • , Luca Rampoldi
    •  & Anthony J. Bleyer