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  • the epidemiology, pathophysiology, diagnosis, management and quality of life of patients with polycystic ovary syndrome

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  • Polycystic ovary syndrome (PCOS) is a major public health problem affecting ~11–13% of women worldwide. In this Primer, Stener-Victorin et al. review the epidemiology and pathophysiology of PCOS and highlight the latest advances in the diagnosis and management of this syndrome.

    • Elisabet Stener-Victorin
    • Helena Teede
    • Terhi T. Piltonen
    Primer
  • the epidemiology, mechanisms, diagnosis, management and the quality of life of patients with gastric neuroendocrine neoplasms.

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  • Gastric neuroendocrine neoplasms (gNENs) are rare tumours of the neuroendocrine cells of the stomach and consist of different subtypes with distinct management and prognosis. In this Primer, Campana and colleagues review the complex biology of the various gNEN subtypes and their epidemiology, diagnosis and management, and highlight the unmet needs in the field.

    • Giuseppe Lamberti
    • Francesco Panzuto
    • Davide Campana
    Primer
  • This PrimeView highlights the epidemiology of multidrug-resistant tuberculosis, and summarizes the mechanisms, diagnosis and management of this disease. It accompanies the Primer article on this topic by Dheda et al.

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  • Multidrug-resistant tuberculosis (MDR-TB) is caused by Mycobacterium tuberculosis that is resistant to several first-line drugs. MDR-TB is an increasing public health challenge. In this Primer, Dheda et al. summarize the epidemiology and mechanisms, and discuss diagnosis, management and quality of life of patients with MDR-TB.

    • Keertan Dheda
    • Fuad Mirzayev
    • Christoph Lange
    Primer
  • This PrimeView highlights the diagnosis of invasive candidiasis, and summarizes its epidemiology, mechanisms and management. It accompanies the Primer article on this topic by Lass- Flörl et al.

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  • Invasive candidiasis is a fungal disease caused by Candida pathogens. In this Primer, Lass-Flörl et al. summarize current knowledge of epidemiology and mechanisms and discuss the diagnosis, treatment and quality of life of patients with invasive candidiasis. They also highlight outstanding research questions.

    • Cornelia Lass-Flörl
    • Souha S. Kanj
    • Miriam Alisa Govrins
    Primer
  • This PrimeView highlights the mechanisms that lead to retinal detachment, and summarizes the epidemiology, diagnosis and management of this disorder. It accompanies the Primer article on this topic by Lin et al.

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  • Retinal detachment describes the separation of the neurosensory retina from the underlying retinal pigment epithelium, leading to impaired vision or vision loss. This Primer discusses the epidemiology, pathophysiology, diagnosis and management of this disorder and highlights future research directions.

    • Jonathan B. Lin
    • Raja Narayanan
    • Rajendra S. Apte
    Primer
  • This PrimeView highlights the pathophysiology of Alkaptonuria, a rare inherited metabolic disease, and summarizes its epidemiology, diagnosis and management. It accompanies the Primer article on this topic by Bernardini et al.

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  • Alkaptonuria is a rare metabolic disease that has multisystemic and debilitating effects. In this Primer, Bernardini et al. summarize current knowledge of epidemiology and mechanisms, and discuss diagnosis, management and quality of life of patients with this disorder. They also highlight outstanding research questions.

    • Giulia Bernardini
    • Daniela Braconi
    • Annalisa Santucci
    Primer
  • 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
  • This Primer by Zerr et al. discusses the epidemiology, pathophysiology, diagnosis and potential future treatments for Creutzfeldt–Jakob disease and other human prion diseases.

    • Inga Zerr
    • Anna Ladogana
    • Brian S. Appleby
    Primer
  • Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder that typically starts in childhood. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of ADHD.

    • Stephen V. Faraone
    • Mark A. Bellgrove
    • Jan K. Buitelaar
    Primer