A stylized illustration of the mechanisms underlying imprinting disorders.

Imprinting disorders

Imprinting disorders are congenital conditions in which imprinted gene expression is disrupted. They include Prader–Willi syndrome, Angelman syndrome and Beckwith–Wiedemann syndrome.

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    Primers soon to be featured in the journal include scabies, primary vesicoureteral reflux, metabolic syndrome and keratoconus.

  • Stigma drivers are similar across health conditions: negative attitudes, low knowledge and misconceptions, fear, and institutional practices.

    Health-care stigma has profound impacts on health outcomes through reducing health-care uptake, disrupting linkage to and retention in care, and lowering treatment initiation and adherence. Appropriate tools and approaches must be utilized to reduce health-care stigma and to improve health-care quality, engagement and health outcomes for communities at large.

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  • Scabies is one of the most common and highest-burden skin diseases globally. Infection by the scabies mite is highly contagious and leads to considerable morbidity. In this Primer, Fernando and colleagues summarize the epidemiology, pathophysiology, diagnosis and management of scabies.

    • Deepani D. Fernando
    • Kate E. Mounsey
    • Katja Fischer
    Primer
  • Non-small-cell lung cancer accounts for ~85% of lung cancers. In this Primer, Hendriks et al. summarize current knowledge and research on this malignancy, discussing its epidemiology, mechanisms, diagnosis and management, as well as quality of life and future research directions.

    • Lizza E. L. Hendriks
    • Jordi Remon
    • Martin Reck
    Primer
  • In this Primer, Sayer et al. summarize current knowledge on the epidemiology of sarcopenia, and describe the mechanisms underlying this skeletal muscle disorder, as well as its diagnosis, prevention, management and impacts on quality of life.

    • Avan A. Sayer
    • Rachel Cooper
    • Alfonso J. Cruz-Jentoft
    Primer
  • Premature ovarian insufficiency (POI) is defined as the loss of normal ovarian activity before the age of 40 years, and is a cause of infertility and endocrine dysfunction in women. This Primer outlines the epidemiology and pathophysiology of POI, including associated gene variants, and discusses diagnosis, management and quality of life for women with POI.

    • Philippe Touraine
    • Nathalie Chabbert-Buffet
    • Elena J. Tucker
    Primer
  • Developmental and epileptic encephalopathies are a severe group of epilepsies that usually begin in infancy or childhood. In this Primer, Scheffer and colleagues review the epidemiology, pathophysiology, diagnosis, management and quality of life of patients with this condition, and highlight areas for future research.

    • Ingrid E. Scheffer
    • Sameer Zuberi
    • Amy McTague
    Primer
  • Tumour lysis syndrome (TLS) is an oncological emergency characterized by extensive tumour cell breakdown, leading to the rapid release of intracellular contents into the systemic circulation. In this Primer, Howard and colleagues summarize the epidemiology, pathophysiology, diagnosis and management of TLS.

    • Scott C. Howard
    • Anna Avagyan
    • Ching-Hon Pui
    Primer
  • Health-care stigma has profound impacts on health outcomes through reducing health-care uptake, disrupting linkage to and retention in care, and lowering treatment initiation and adherence. Appropriate tools and approaches must be utilized to reduce health-care stigma and to improve health-care quality, engagement and health outcomes for communities at large.

    • Carmen H. Logie
    • Laura Nyblade
    Comment
  • In shared decision-making, patients and clinicians work together to make care decisions. This method of care is ethically desirable and practically feasible and may be effective in making care fit: forming plans of care that maximally respond to the patient’s situation and priorities while minimally disrupting their lives.

    • Marleen Kunneman
    Comment
  • Rare diseases remain a formidable public health challenge. The key to unlocking breakthroughs in diagnosis and treatment is fostering dynamic international partnerships and streamlined data sharing. The empowerment of patient advocacy groups is essential, as they are pivotal in driving innovative research and elevating health-care standards for these often under-represented conditions.

    • Domenica Taruscio
    • William A. Gahl
    Comment
  • Conversational agents (CAs) are computer programs designed to engage in human-like conversations with users. They are increasingly used in digital health applications, for example medical history taking. CAs have potential to facilitate health-care processes when designed carefully, considering quality aspects and are integrated into health-care processes.

    • Kerstin Denecke
    Comment
A group of women with diverse backgrounds and physiques are standing together, supporting each other and looking ahead.

Women’s health

Research into women’s health has suffered from historical neglect and lack of funding.
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