{"title":"Polycystic ovary syndrome","authors":"","doi":"10.1038/s41572-024-00517-x","DOIUrl":"https://doi.org/10.1038/s41572-024-00517-x","url":null,"abstract":"the epidemiology, pathophysiology, diagnosis, management and quality of life of patients with polycystic ovary syndrome","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"53 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140609944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elisabet Stener-Victorin, Helena Teede, Robert J. Norman, Richard Legro, Mark O. Goodarzi, Anuja Dokras, Joop Laven, Kathleen Hoeger, Terhi T. Piltonen
{"title":"Polycystic ovary syndrome","authors":"Elisabet Stener-Victorin, Helena Teede, Robert J. Norman, Richard Legro, Mark O. Goodarzi, Anuja Dokras, Joop Laven, Kathleen Hoeger, Terhi T. Piltonen","doi":"10.1038/s41572-024-00511-3","DOIUrl":"https://doi.org/10.1038/s41572-024-00511-3","url":null,"abstract":"<p>Despite affecting ~11–13% of women globally, polycystic ovary syndrome (PCOS) is a substantially understudied condition. PCOS, possibly extending to men’s health, imposes a considerable health and economic burden worldwide. Diagnosis in adults follows the International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome, requiring two out of three criteria — clinical or biochemical hyperandrogenism, ovulatory dysfunction, and/or specific ovarian morphological characteristics or elevated anti-Müllerian hormone. However, diagnosing adolescents omits ovarian morphology and anti-Müllerian hormone considerations. PCOS, marked by insulin resistance and hyperandrogenism, strongly contributes to early-onset type 2 diabetes, with increased odds for cardiovascular diseases. Reproduction-related implications include irregular menstrual cycles, anovulatory infertility, heightened risks of pregnancy complications and endometrial cancer. Beyond physiological manifestations, PCOS is associated with anxiety, depression, eating disorders, psychosexual dysfunction and negative body image, collectively contributing to diminished health-related quality of life in patients. Despite its high prevalence persisting into menopause, diagnosing PCOS often involves extended timelines and multiple health-care visits. Treatment remains ad hoc owing to limited understanding of underlying mechanisms, highlighting the need for research delineating the aetiology and pathophysiology of the syndrome. Identifying factors contributing to PCOS will pave the way for personalized medicine approaches. Additionally, exploring novel biomarkers, refining diagnostic criteria and advancing treatment modalities will be crucial in enhancing the precision and efficacy of interventions that will positively impact the lives of patients.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"57 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140610223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Stephen V Faraone, Mark A Bellgrove, Isabell Brikell, Samuele Cortese, Catharina A Hartman, Chris Hollis, Jeffrey H Newcorn, Alexandra Philipsen, Guilherme V Polanczyk, Katya Rubia, Margaret H Sibley, Jan K Buitelaar
{"title":"Author Correction: Attention-deficit/hyperactivity disorder.","authors":"Stephen V Faraone, Mark A Bellgrove, Isabell Brikell, Samuele Cortese, Catharina A Hartman, Chris Hollis, Jeffrey H Newcorn, Alexandra Philipsen, Guilherme V Polanczyk, Katya Rubia, Margaret H Sibley, Jan K Buitelaar","doi":"10.1038/s41572-024-00518-w","DOIUrl":"https://doi.org/10.1038/s41572-024-00518-w","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"29"},"PeriodicalIF":81.5,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Gastric neuroendocrine neoplasms","authors":"","doi":"10.1038/s41572-024-00515-z","DOIUrl":"https://doi.org/10.1038/s41572-024-00515-z","url":null,"abstract":"the epidemiology, mechanisms, diagnosis, management and the quality of life of patients with gastric neuroendocrine neoplasms.","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"49 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giuseppe Lamberti, Francesco Panzuto, Marianne Pavel, Dermot O’Toole, Valentina Ambrosini, Massimo Falconi, Rocio Garcia-Carbonero, Rachel P. Riechelmann, Guido Rindi, Davide Campana
{"title":"Gastric neuroendocrine neoplasms","authors":"Giuseppe Lamberti, Francesco Panzuto, Marianne Pavel, Dermot O’Toole, Valentina Ambrosini, Massimo Falconi, Rocio Garcia-Carbonero, Rachel P. Riechelmann, Guido Rindi, Davide Campana","doi":"10.1038/s41572-024-00508-y","DOIUrl":"https://doi.org/10.1038/s41572-024-00508-y","url":null,"abstract":"<p>Gastric neuroendocrine neoplasms (gNENs) display peculiar site-specific features among all NENs. Their incidence and prevalence have been rising in the past few decades. gNENs comprise gastric neuroendocrine carcinomas (gNECs) and gastric neuroendocrine tumours (gNETs), the latter further classified into three types. Type I anatype II gNETs are gastrin-dependent and develop in chronic atrophic gastritis and as part of Zollinger–Ellison syndrome within a multiple endocrine neoplasia type 1 syndrome (MEN1), respectively. Type III or sporadic gNETs develop in the absence of hypergastrinaemia and in the context of a near-normal or inflamed gastric mucosa. gNECs can also develop in the context of variable atrophic, relatively normal or inflamed gastric mucosa. Each gNEN type has different clinical characteristics and requires a different multidisciplinary approach in expert dedicated centres. Type I gNETs are managed mainly by endoscopy or surgery, whereas the treatment of type II gNETs largely depends on the management of the concomitant MEN1. Type III gNETs may require both locoregional approaches and systemic treatments; NECs are often metastatic and therefore require systemic treatment. Specific data regarding the systemic treatment of gNENs are lacking and are derived from the treatment of intestinal NETs and NECs. An enhanced understanding of molecular and clinical pathophysiology is needed to improve the management and outcomes of patients’ gNETs.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"37 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Keertan Dheda, Fuad Mirzayev, Daniela Maria Cirillo, Zarir Udwadia, Kelly E. Dooley, Kwok-Chiu Chang, Shaheed Vally Omar, Anja Reuter, Tahlia Perumal, C. Robert Horsburgh, Megan Murray, Christoph Lange
{"title":"Multidrug-resistant tuberculosis","authors":"Keertan Dheda, Fuad Mirzayev, Daniela Maria Cirillo, Zarir Udwadia, Kelly E. Dooley, Kwok-Chiu Chang, Shaheed Vally Omar, Anja Reuter, Tahlia Perumal, C. Robert Horsburgh, Megan Murray, Christoph Lange","doi":"10.1038/s41572-024-00504-2","DOIUrl":"https://doi.org/10.1038/s41572-024-00504-2","url":null,"abstract":"<p>Tuberculosis (TB) remains the foremost cause of death by an infectious disease globally. Multidrug-resistant or rifampicin-resistant TB (MDR/RR-TB; resistance to rifampicin and isoniazid, or rifampicin alone) is a burgeoning public health challenge in several parts of the world, and especially Eastern Europe, Russia, Asia and sub-Saharan Africa. Pre-extensively drug-resistant TB (pre-XDR-TB) refers to MDR/RR-TB that is also resistant to a fluoroquinolone, and extensively drug-resistant TB (XDR-TB) isolates are additionally resistant to other key drugs such as bedaquiline and/or linezolid. Collectively, these subgroups are referred to as drug-resistant TB (DR-TB). All forms of DR-TB can be as transmissible as rifampicin-susceptible TB; however, it is more difficult to diagnose, is associated with higher mortality and morbidity, and higher rates of post-TB lung damage. The various forms of DR-TB often consume >50% of national TB budgets despite comprising <5–10% of the total TB case-load. The past decade has seen a dramatic change in the DR-TB treatment landscape with the introduction of new diagnostics and therapeutic agents. However, there is limited guidance on understanding and managing various aspects of this complex entity, including the pathogenesis, transmission, diagnosis, management and prevention of MDR-TB and XDR-TB, especially at the primary care physician level.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"19 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140199051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marinde van Lennep, Maartje M J Singendonk, Luigi Dall'Oglio, Fréderic Gottrand, Usha Krishnan, Suzanne W J Terheggen-Lagro, Taher I Omari, Marc A Benninga, Michiel P van Wijk
{"title":"Author Correction: Oesophageal atresia.","authors":"Marinde van Lennep, Maartje M J Singendonk, Luigi Dall'Oglio, Fréderic Gottrand, Usha Krishnan, Suzanne W J Terheggen-Lagro, Taher I Omari, Marc A Benninga, Michiel P van Wijk","doi":"10.1038/s41572-024-00513-1","DOIUrl":"https://doi.org/10.1038/s41572-024-00513-1","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"24"},"PeriodicalIF":81.5,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140194217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cornelia Lass-Flörl, Souha S Kanj, Nelesh P Govender, George R Thompson, Luis Ostrosky-Zeichner, Miriam Alisa Govrins
{"title":"Invasive candidiasis.","authors":"Cornelia Lass-Flörl, Souha S Kanj, Nelesh P Govender, George R Thompson, Luis Ostrosky-Zeichner, Miriam Alisa Govrins","doi":"10.1038/s41572-024-00503-3","DOIUrl":"10.1038/s41572-024-00503-3","url":null,"abstract":"<p><p>Invasive candidiasis is an important fungal disease caused by Candida albicans and, increasingly, non-albicans Candida pathogens. Invasive Candida infections originate most frequently from endogenous human reservoirs and are triggered by impaired host defences. Signs and symptoms of invasive candidiasis are non-specific; candidaemia is the most diagnosed manifestation, with disseminated candidiasis affecting single or multiple organs. Diagnosis poses many challenges, and conventional culture techniques are frequently supplemented by non-culture-based assays. The attributable mortality from candidaemia and disseminated infections is ~30%. Fluconazole resistance is a concern for Nakaseomyces glabratus, Candida parapsilosis, and Candida auris and less so in Candida tropicalis infection; acquired echinocandin resistance remains uncommon. The epidemiology of invasive candidiasis varies in different geographical areas and within various patient populations. Risk factors include intensive care unit stay, central venous catheter use, broad-spectrum antibiotics use, abdominal surgery and immune suppression. Early antifungal treatment and central venous catheter removal form the cornerstones to decrease mortality. The landscape of novel therapeutics is growing; however, the application of new drugs requires careful selection of eligible patients as the spectrum of activity is limited to a few fungal species. Unanswered questions and knowledge gaps define future research priorities and a personalized approach to diagnosis and treatment of invasive candidiasis is of paramount importance.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"20"},"PeriodicalIF":81.5,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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