Eric Jauniaux, John D Aplin, Karin A Fox, Yalda Afshar, Ahmed M Hussein, Carolyn J P Jones, Graham J Burton
{"title":"Placenta accreta spectrum.","authors":"Eric Jauniaux, John D Aplin, Karin A Fox, Yalda Afshar, Ahmed M Hussein, Carolyn J P Jones, Graham J Burton","doi":"10.1038/s41572-025-00624-3","DOIUrl":"https://doi.org/10.1038/s41572-025-00624-3","url":null,"abstract":"<p><p>Placenta accreta spectrum is an increasingly common placental-related disorder diagnosed at birth when the placenta cannot be fully detached manually from the uterine wall, often requiring a surgical removal. Following a worldwide increase in caesarean delivery rates, more than 90% of cases are now found in patients with a history of caesarean delivery and an anterior low-lying placenta or a placenta previa. Accreta placentation is not a consequence of an inherently more aggressive cancer-like trophoblast but of a loss of the normal physiological cell signalling and physical regulatory mechanisms in the scar tissue, with higher-than-normal maternal blood velocity entering the intervillous space of the placenta, distortion of the corresponding lobules and a loss of the physiological site of detachment from the uterine wall. If unsuspected at the time of delivery, attempts to manually remove accreta tissue are often associated with major and sometimes uncontrollable bleeding. Patients with a high probability of placenta accreta spectrum at birth can be generally identified by prenatal ultrasonography, permitting management by a multidisciplinary team. Owing to the high risk of intraoperative and postpartum haemorrhage and damage to other pelvic organs, placenta previa accreta presents a management challenge, particularly in healthcare systems with limited resources. Involving the pregnant patient and their family in preparation for delivery reduces psychological morbidity associated with complex obstetric surgery. Standardized reporting protocols are essential to develop new management strategies. Further research is required to characterize the complex cellular changes at the uteroplacental interface in placenta accreta spectrum.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"40"},"PeriodicalIF":76.9,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234584","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}
Mirjam Christ-Crain, Daniel G Bichet, Wiebke K Fenske, Morris B Goldman, Soren Rittig, Joseph G Verbalis, Alan S Verkman
{"title":"Author Correction: Diabetes insipidus.","authors":"Mirjam Christ-Crain, Daniel G Bichet, Wiebke K Fenske, Morris B Goldman, Soren Rittig, Joseph G Verbalis, Alan S Verkman","doi":"10.1038/s41572-025-00629-y","DOIUrl":"https://doi.org/10.1038/s41572-025-00629-y","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"42"},"PeriodicalIF":76.9,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226014","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}
Bharat Narasimhan, Jonathan Na, Michelle M Monasky, Ramon Brugada, Yoko Miyasaka, Josep Brugada, Pedro Brugada, Chayakrit Krittanawong
{"title":"Brugada syndrome.","authors":"Bharat Narasimhan, Jonathan Na, Michelle M Monasky, Ramon Brugada, Yoko Miyasaka, Josep Brugada, Pedro Brugada, Chayakrit Krittanawong","doi":"10.1038/s41572-025-00622-5","DOIUrl":"https://doi.org/10.1038/s41572-025-00622-5","url":null,"abstract":"<p><p>Brugada syndrome (BrS) is a cardiac channelopathy associated with an elevated risk of arrhythmias and sudden cardiac death compared with the general population. Since its initial description in 1992 by Pedro and Josep Brugada, there has been tremendous progress in our understanding and management of BrS. The condition is characterized by 'coved' ST segment elevations in the anterior precordial electrocardiogram leads, which occasionally requires additional pharmacological provocation for diagnosis. Substantial geographical variation in the prevalence, genetic characteristics and clinical behaviour of BrS exists. Improvements in the understanding of the genetic and molecular mechanisms of the condition have been made over the past 30 years, opening avenues for the discovery of diagnostic and management opportunities. In this Primer, we discuss the evolving epidemiology of BrS, the emerging genetic understanding of the condition, as well as its diagnosis and management. We summarize the major societal guideline recommendations pertaining to BrS and highlight the potential for technological advancements, such as digital health and machine learning, to improve patient care.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"38"},"PeriodicalIF":76.9,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181977","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}
Luca Pio, Allison F O'Neill, Helen Woodley, Andrew J Murphy, Gregory Tiao, Stefanie Franchi-Abella, Brice Fresneau, Kenichiro Watanabe, Rita Alaggio, Dolores Lopez-Terrada, Eiso Hiyama, Sophie Branchereau
{"title":"Hepatoblastoma.","authors":"Luca Pio, Allison F O'Neill, Helen Woodley, Andrew J Murphy, Gregory Tiao, Stefanie Franchi-Abella, Brice Fresneau, Kenichiro Watanabe, Rita Alaggio, Dolores Lopez-Terrada, Eiso Hiyama, Sophie Branchereau","doi":"10.1038/s41572-025-00620-7","DOIUrl":"https://doi.org/10.1038/s41572-025-00620-7","url":null,"abstract":"<p><p>Hepatoblastoma is the most common primary liver cancer in children, with an incidence of approximately 1.5 cases per million children per year. Most cases are sporadic, typically presenting at a median age of 18 months, with only 5% occurring after 4 years of age. Clinical presentation often includes an abdominal mass and, less commonly, abdominal pain, weight loss, jaundice and precocious puberty. Low birth weight is a significant risk factor, along with genetic conditions such as Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18. Screening protocols for hepatoblastoma are recommended for children with predisposing conditions. Medical imaging is crucial for hepatoblastoma diagnosis and staging, with abdominal ultrasonography being the initial modality of choice, followed by abdominal contrast MRI for detailed evaluation and monitoring. Chest computer tomography is indicated to evaluate potential lung metastases. The Pretreatment Extent of Disease (PRETEXT) system is employed for hepatoblastoma staging and for guiding treatment strategies such as surgical resection and chemotherapy. Patients with advanced hepatoblastoma may require liver transplantation. Advancements in surgery and chemotherapy have improved survival rates, with 5-year survival rates exceeding 80-90% in localized disease. However, challenges remain in treating individuals with high-risk and metastatic hepatoblastoma. Ongoing research into treatment stratification, the introduction of novel therapies, including targeted and immune therapies, and the application of otoprotectants are essential to address refractory or recurrent hepatoblastoma and to increase the overall survival of patients. Long-term quality of life and the management of treatment-related sequelae are becoming increasingly important as survival rates improve.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"36"},"PeriodicalIF":76.9,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128229","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}
Tim Berger, Julia Dumfarth, Maximilian Kreibich, Kenji Minatoya, Bulat A Ziganshin, Martin Czerny
{"title":"Thoracic aortic aneurysm.","authors":"Tim Berger, Julia Dumfarth, Maximilian Kreibich, Kenji Minatoya, Bulat A Ziganshin, Martin Czerny","doi":"10.1038/s41572-025-00617-2","DOIUrl":"https://doi.org/10.1038/s41572-025-00617-2","url":null,"abstract":"<p><p>Aortic medicine has undergone remarkable progress in recent decades with regard to our understanding and treatment of aortic disease. In the past decade, the scientific community has called for the aorta to be viewed as an independent organ, advocating for a holistic approach to understanding thoracic aortic disease, integrating its embryological development, wall composition, pathophysiological mechanisms, surveillance and treatment. Thoracic aortic aneurysm (TAA) is a potentially fatal disease characterized by abnormal dilation of the thoracic aorta, whereby the structural integrity of the vessel wall is compromised. Although epidemiological studies of TAA are confounded by its asymptomatic nature and diagnostic challenges, available evidence suggests that TAA prevalence and treatment outcomes vary according to race, sex and socioeconomic factors. Pathophysiological mechanisms involve interactions between vascular smooth muscle cells and the extracellular matrix, influenced by genetic predisposition and embryological factors as well as arterial hypertension. Diagnosis relies on advanced imaging techniques, with CT angiography considered to be the gold standard diagnostic tool and with genetic screening recommended for heritable conditions. Preventive measures focus on managing cardiovascular risk factors, whereas treatment includes medical management, as well as endovascular and open surgical repair. TAA has a major effect on quality of life, particularly in younger, female and genetically predisposed patients, necessitating further research and tailored interventions.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"34"},"PeriodicalIF":76.9,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972391","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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