Hermann L Müller, Maithé Tauber, Elizabeth A Lawson, Jale Özyurt, Brigitte Bison, Juan-Pedro Martinez-Barbera, Stephanie Puget, Thomas E Merchant, Hanneke M van Santen
{"title":"Hypothalamic syndrome.","authors":"Hermann L Müller, Maithé Tauber, Elizabeth A Lawson, Jale Özyurt, Brigitte Bison, Juan-Pedro Martinez-Barbera, Stephanie Puget, Thomas E Merchant, Hanneke M van Santen","doi":"10.1038/s41572-022-00351-z","DOIUrl":"10.1038/s41572-022-00351-z","url":null,"abstract":"<p><p>Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch and Langerhans cell histiocytosis, as well as with genetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia. HS is characterized by intractable weight gain associated with severe morbid obesity, multiple endocrine abnormalities and memory impairment, attention deficit and reduced impulse control as well as increased risk of cardiovascular and metabolic disorders. Currently, there is no cure for this condition but treatments for general obesity are often used in patients with HS, including surgery, medication and counselling. However, these are mostly ineffective and no medications that are specifically approved for the treatment of HS are available. Specific challenges in HS are because the syndrome represents an adverse effect of different diseases, and that diagnostic criteria, aetiology, pathogenesis and management of HS are not completely defined.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"8 1","pages":"24"},"PeriodicalIF":81.5,"publicationDate":"2022-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10840913","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}
Bianca J J M Brundel, Xun Ai, Mellanie True Hills, Myrthe F Kuipers, Gregory Y H Lip, Natasja M S de Groot
{"title":"Atrial fibrillation.","authors":"Bianca J J M Brundel, Xun Ai, Mellanie True Hills, Myrthe F Kuipers, Gregory Y H Lip, Natasja M S de Groot","doi":"10.1038/s41572-022-00347-9","DOIUrl":"10.1038/s41572-022-00347-9","url":null,"abstract":"<p><p>Atrial fibrillation (AF) is the most common cardiac arrhythmia despite substantial efforts to understand the pathophysiology of the condition and develop improved treatments. Identifying the underlying causative mechanisms of AF in individual patients is difficult and the efficacy of current therapies is suboptimal. Consequently, the incidence of AF is steadily rising and there is a pressing need for novel therapies. Research has revealed that defects in specific molecular pathways underlie AF pathogenesis, resulting in electrical conduction disorders that drive AF. The severity of this so-called electropathology correlates with the stage of AF disease progression and determines the response to AF treatment. Therefore, unravelling the molecular mechanisms underlying electropathology is expected to fuel the development of innovative personalized diagnostic tools and mechanism-based therapies. Moreover, the co-creation of AF studies with patients to implement novel diagnostic tools and therapies is a prerequisite for successful personalized AF management. Currently, various treatment modalities targeting AF-related electropathology, including lifestyle changes, pharmaceutical and nutraceutical therapy, substrate-based ablative therapy, and neuromodulation, are available to maintain sinus rhythm and might offer a novel holistic strategy to treat AF.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"8 1","pages":"21"},"PeriodicalIF":81.5,"publicationDate":"2022-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10275179","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}
Katrin E Giel, Cynthia M Bulik, Fernando Fernandez-Aranda, Phillipa Hay, Anna Keski-Rahkonen, Kathrin Schag, Ulrike Schmidt, Stephan Zipfel
{"title":"Binge eating disorder.","authors":"Katrin E Giel, Cynthia M Bulik, Fernando Fernandez-Aranda, Phillipa Hay, Anna Keski-Rahkonen, Kathrin Schag, Ulrike Schmidt, Stephan Zipfel","doi":"10.1038/s41572-022-00344-y","DOIUrl":"10.1038/s41572-022-00344-y","url":null,"abstract":"<p><p>Binge eating disorder (BED) is characterized by regular binge eating episodes during which individuals ingest comparably large amounts of food and experience loss of control over their eating behaviour. The worldwide prevalence of BED for the years 2018-2020 is estimated to be 0.6-1.8% in adult women and 0.3-0.7% in adult men. BED is commonly associated with obesity and with somatic and mental health comorbidities. People with BED experience considerable burden and impairments in quality of life, and, at the same time, BED often goes undetected and untreated. The aetiology of BED is complex, including genetic and environmental factors as well as neuroendocrinological and neurobiological contributions. Neurobiological findings highlight impairments in reward processing, inhibitory control and emotion regulation in people with BED, and these neurobiological domains are targets for emerging treatment approaches. Psychotherapy is the first-line treatment for BED. Recognition and research on BED has increased since its inclusion into DSM-5; however, continuing efforts are needed to understand underlying mechanisms of BED and to improve prevention and treatment outcomes for this disorder. These efforts should also include screening, identification and implementation of evidence-based interventions in routine clinical practice settings such as primary care and mental health outpatient clinics.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"8 1","pages":"16"},"PeriodicalIF":76.9,"publicationDate":"2022-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793802/pdf/nihms-1854729.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9135660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Cheung, V. Biousse, P. Keane, E. Schiffrin, T. Wong
{"title":"Hypertensive eye disease","authors":"C. Cheung, V. Biousse, P. Keane, E. Schiffrin, T. Wong","doi":"10.1038/s41572-022-00342-0","DOIUrl":"https://doi.org/10.1038/s41572-022-00342-0","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":" ","pages":""},"PeriodicalIF":81.5,"publicationDate":"2022-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46937788","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":"Financial toxicity: a common problem affecting patient care and health.","authors":"Maria Pisu, Michelle Y Martin","doi":"10.1038/s41572-022-00341-1","DOIUrl":"https://doi.org/10.1038/s41572-022-00341-1","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"8 1","pages":"7"},"PeriodicalIF":81.5,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9731797/pdf/nihms-1838730.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9239241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dan Pugh, Maira Karabayas, Neil Basu, Maria C Cid, Ruchika Goel, Carl S Goodyear, Peter C Grayson, Stephen P McAdoo, Justin C Mason, Catherine Owen, Cornelia M Weyand, Taryn Youngstein, Neeraj Dhaun
{"title":"Large-vessel vasculitis.","authors":"Dan Pugh, Maira Karabayas, Neil Basu, Maria C Cid, Ruchika Goel, Carl S Goodyear, Peter C Grayson, Stephen P McAdoo, Justin C Mason, Catherine Owen, Cornelia M Weyand, Taryn Youngstein, Neeraj Dhaun","doi":"10.1038/s41572-021-00327-5","DOIUrl":"10.1038/s41572-021-00327-5","url":null,"abstract":"<p><p>Large-vessel vasculitis (LVV) manifests as inflammation of the aorta and its major branches and is the most common primary vasculitis in adults. LVV comprises two distinct conditions, giant cell arteritis and Takayasu arteritis, although the phenotypic spectrum of primary LVV is complex. Non-specific symptoms often predominate and so patients with LVV present to a range of health-care providers and settings. Rapid diagnosis, specialist referral and early treatment are key to good patient outcomes. Unfortunately, disease relapse remains common and chronic vascular complications are a source of considerable morbidity. Although accurate monitoring of disease activity is challenging, progress in vascular imaging techniques and the measurement of laboratory biomarkers may facilitate better matching of treatment intensity with disease activity. Further, advances in our understanding of disease pathophysiology have paved the way for novel biologic treatments that target important mediators of disease in both giant cell arteritis and Takayasu arteritis. This work has highlighted the substantial heterogeneity present within LVV and the importance of an individualized therapeutic approach. Future work will focus on understanding the mechanisms of persisting vascular inflammation, which will inform the development of increasingly sophisticated imaging technologies. Together, these will enable better disease prognostication, limit treatment-associated adverse effects, and facilitate targeted development and use of novel therapies.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"7 1","pages":"93"},"PeriodicalIF":76.9,"publicationDate":"2022-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9115766/pdf/nihms-1800048.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39791618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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