Lynnette K Nieman, Frederic Castinetti, John Newell-Price, Elena Valassi, Jacques Drouin, Yutaka Takahashi, André Lacroix
{"title":"Cushing syndrome.","authors":"Lynnette K Nieman, Frederic Castinetti, John Newell-Price, Elena Valassi, Jacques Drouin, Yutaka Takahashi, André Lacroix","doi":"10.1038/s41572-024-00588-w","DOIUrl":"10.1038/s41572-024-00588-w","url":null,"abstract":"<p><p>Cushing syndrome (CS) is a constellation of signs and symptoms caused by excessive exposure to exogenous or endogenous glucocorticoid hormones. Endogenous CS is caused by increased cortisol production by one or both adrenal glands (adrenal CS) or by elevated adrenocorticotropic hormone (ACTH) secretion from a pituitary tumour (Cushing disease (CD)) or non-pituitary tumour (ectopic ACTH secretion), which stimulates excessive cortisol production. CS is associated with severe multisystem morbidity, including impaired cardiovascular and metabolic function, infections and neuropsychiatric disorders, which notably reduce quality of life. Mortality is increased owing to pulmonary emboli, infection, myocardial infarction and cerebrovascular accidents. The clinical presentation is variable and because some CS signs and symptoms are common in the general population, the diagnosis might not be considered until many features have accumulated. Guidelines recommend screening patients with suspected CS with 24-h urine cortisol, bedtime salivary cortisol and/or 1 mg dexamethasone suppression test. Subsequently, determining the aetiology of CS is important as it affects management. The first-line therapy for all aetiologies of endogenous CS is surgical resection of the causal tissue, including corticotroph adenoma or ectopic tumour for ACTH-dependent CS or unilateral or bilateral adrenalectomy for adrenal CS. Second-line therapies include steroidogenesis inhibitors for any cause of CS, pituitary radiation (with or without steroidogenesis inhibitors) for CD, and bilateral adrenalectomy for ACTH-dependent causes of CS.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"4"},"PeriodicalIF":76.9,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029182","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}
Ruben Hermann, Claire L Shovlin, Raj S Kasthuri, Marcelo Serra, Omer F Eker, Sabine Bailly, Elisabetta Buscarini, Sophie Dupuis-Girod
{"title":"Hereditary haemorrhagic telangiectasia.","authors":"Ruben Hermann, Claire L Shovlin, Raj S Kasthuri, Marcelo Serra, Omer F Eker, Sabine Bailly, Elisabetta Buscarini, Sophie Dupuis-Girod","doi":"10.1038/s41572-024-00585-z","DOIUrl":"10.1038/s41572-024-00585-z","url":null,"abstract":"<p><p>Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases. Arteriovenous malformations (AVMs) in the lungs, liver and the central nervous system cause additional major complications and often complex symptoms, primarily due to vascular shunting, which is right-to-left through pulmonary AVMs (causing ischaemic stroke or cerebral abscess) and left-to-right through systemic AVMs (causing high cardiac output). Children usually experience isolated epistaxis; in rare cases, childhood complications occur from large AVMs in the lungs or central nervous system. Management goals encompass control of epistaxis and intestinal bleeding from telangiectases, screening for and treatment of iron deficiency (with or without anaemia) and AVMs, genetic counselling and evaluation of at-risk family members. Novel therapeutics, such as systemic antiangiogenic therapies, are actively being investigated. Although HHT is associated with increased morbidity, the appropriate screening and treatment of visceral AVMs, and the effective management of bleeding and anaemia, improves quality of life and overall survival.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"1"},"PeriodicalIF":76.9,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952002","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}
Lizza E L Hendriks, Jordi Remon, Corinne Faivre-Finn, Marina C Garassino, John V Heymach, Keith M Kerr, Daniel S W Tan, Giulia Veronesi, Martin Reck
{"title":"Author Correction: Non-small-cell lung cancer.","authors":"Lizza E L Hendriks, Jordi Remon, Corinne Faivre-Finn, Marina C Garassino, John V Heymach, Keith M Kerr, Daniel S W Tan, Giulia Veronesi, Martin Reck","doi":"10.1038/s41572-025-00592-8","DOIUrl":"https://doi.org/10.1038/s41572-025-00592-8","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"3"},"PeriodicalIF":76.9,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952001","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":"Neurological complications at high altitude beyond altitude illnesses.","authors":"Marika Falla, Giacomo Strapazzon, Peter H Hackett","doi":"10.1038/s41572-024-00583-1","DOIUrl":"https://doi.org/10.1038/s41572-024-00583-1","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"96"},"PeriodicalIF":76.9,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864611","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}
Sonja E Leonhard, Nowshin Papri, Luis Querol, Simon Rinaldi, Nortina Shahrizaila, Bart C Jacobs
{"title":"Guillain-Barré syndrome.","authors":"Sonja E Leonhard, Nowshin Papri, Luis Querol, Simon Rinaldi, Nortina Shahrizaila, Bart C Jacobs","doi":"10.1038/s41572-024-00580-4","DOIUrl":"10.1038/s41572-024-00580-4","url":null,"abstract":"<p><p>Guillain-Barré syndrome (GBS) is a rare immune-mediated polyradiculoneuropathy. Patients typically develop rapidly progressive weakness and sensory deficits that can result in complete paralysis requiring mechanical ventilation. GBS is usually a monophasic disease in which an aberrant immune response to an infection or other trigger damages the peripheral nerves. For example, in patients with preceding Campylobacter jejuni infection, molecular mimicry causes a cross-reactive antibody response to nerve gangliosides. Diagnosis is based on clinical features, supported by cerebrospinal fluid analysis and nerve conduction studies. Effective treatments include plasma exchange and intravenous immunoglobulins. However, ~20% of patients who received treatment are unable to walk after 6 months and ~5% die as a consequence of GBS. Important knowledge gaps in GBS include its pathogenesis, especially after viral infections. In addition, there is a lack of specific biomarkers to improve the diagnosis, monitor the disease activity, and predict the clinical course and outcome of GBS. Major challenges for the future include finding more effective and personalized treatments, which are affordable in low-income and middle-income countries, and preparation for outbreaks of infections as potential triggers for GBS.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"97"},"PeriodicalIF":76.9,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864609","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}
Krystle Y Chong, Liesl de Waard, Munira Oza, Madelon van Wely, Davor Jurkovic, Maria Memtsa, Andrea Woolner, Ben W Mol
{"title":"Ectopic pregnancy.","authors":"Krystle Y Chong, Liesl de Waard, Munira Oza, Madelon van Wely, Davor Jurkovic, Maria Memtsa, Andrea Woolner, Ben W Mol","doi":"10.1038/s41572-024-00579-x","DOIUrl":"10.1038/s41572-024-00579-x","url":null,"abstract":"<p><p>Ectopic pregnancy, defined as the implantation of a developing pregnancy outside of the endometrial cavity of the uterus, is the leading cause of early-pregnancy maternal mortality. The majority of ectopic pregnancies implant in a fallopian tube. Acute complications may include rupture of the fallopian tube or rupture of ectopic pregnancy, haemorrhage and hypovolaemic shock, or occur secondary to treatments such as emergency surgery or blood transfusions, and ultimately increase the risk of maternal death. After ectopic pregnancy, patients may experience ongoing morbidity, including chronic pain, infertility and psychological distress. Assessment of ectopic pregnancy should focus on prompt diagnosis based on clinical and investigative findings but should also reflect a patient-centred approach with acknowledgement of potential psychological distress associated with pregnancy loss and reduced future fertility. Over the last four decades, the foundations of non-invasive diagnosis have been transvaginal sonography and serum β-human chorionic gonadotropin, with diagnostic laparoscopy as a confirmatory test if surgical treatment is planned. Once diagnosed, ectopic pregnancy can be managed expectantly, treated medically with methotrexate or managed surgically. Future fertility is an important but often overlooked aspect in the management of ectopic pregnancy.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"94"},"PeriodicalIF":76.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818705","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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