Rohan Bir Singh, Shizuka Koh, Namrata Sharma, Fasika A Woreta, Farhad Hafezi, Harminder S Dua, Vishal Jhanji
{"title":"Keratoconus.","authors":"Rohan Bir Singh, Shizuka Koh, Namrata Sharma, Fasika A Woreta, Farhad Hafezi, Harminder S Dua, Vishal Jhanji","doi":"10.1038/s41572-024-00565-3","DOIUrl":"10.1038/s41572-024-00565-3","url":null,"abstract":"<p><p>Keratoconus is a progressive eye disorder primarily affecting individuals in adolescence and early adulthood. The ectatic changes in the cornea cause thinning and cone-like steepening leading to irregular astigmatism and reduced vision. Keratoconus is a complex disorder with a multifaceted aetiology and pathogenesis, including genetic, environmental, biomechanical and cellular factors. Environmental factors, such as eye rubbing, UV light exposure and contact lens wearing, are associated with disease progression. On the cellular level, a complex interplay of hormonal changes, alterations in enzymatic activity that modify extracellular membrane stiffness, and changes in biochemical and biomechanical signalling pathways disrupt collagen cross-linking within the stroma, contributing to structural integrity loss and distortion of normal corneal anatomy. Clinically, keratoconus is diagnosed through clinical examination and corneal imaging. Advanced imaging platforms have improved the detection of keratoconus, facilitating early diagnosis and monitoring of disease progression. Treatment strategies for keratoconus are tailored to disease severity and progression. In early stages, vision correction with glasses or soft contact lenses may suffice. As the condition advances, rigid gas-permeable contact lenses or scleral lenses are prescribed. Corneal cross-linking has emerged as a pivotal treatment aimed at halting the progression of corneal ectasia. In patients with keratoconus with scarring or contact lens intolerance, surgical interventions are performed.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"81"},"PeriodicalIF":76.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504458","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}
Ian J Neeland, Soo Lim, André Tchernof, Amalia Gastaldelli, Janani Rangaswami, Chiadi E Ndumele, Tiffany M Powell-Wiley, Jean-Pierre Després
{"title":"Metabolic syndrome.","authors":"Ian J Neeland, Soo Lim, André Tchernof, Amalia Gastaldelli, Janani Rangaswami, Chiadi E Ndumele, Tiffany M Powell-Wiley, Jean-Pierre Després","doi":"10.1038/s41572-024-00563-5","DOIUrl":"https://doi.org/10.1038/s41572-024-00563-5","url":null,"abstract":"<p><p>The metabolic syndrome (MetS) is a multiplex modifiable risk factor for cardiovascular disease, type 2 diabetes mellitus and other health outcomes, and is a major challenge to clinical practice and public health. The rising global prevalence of MetS, driven by urbanization, sedentary lifestyles and dietary changes, underlines the urgency of addressing this syndrome. We explore the complex underlying mechanisms, including genetic predisposition, insulin resistance, accumulation of dysfunctional adipose tissue and ectopic lipids in abdominal obesity, systemic inflammation and dyslipidaemia, and how they contribute to the clinical manifestations of MetS. Diagnostic approaches vary but commonly focus on abdominal obesity (assessed using waist circumference), hyperglycaemia, dyslipidaemia and hypertension, highlighting the need for population-specific and phenotype-specific diagnostic strategies. Management of MetS prioritizes lifestyle modifications, such as healthy dietary patterns, physical activity and management of excess visceral and ectopic adiposity, as foundational interventions. We also discuss emerging therapies, including new pharmacological treatments and surgical options, providing a forward-looking perspective on MetS research and care. This Primer aims to inform clinicians, researchers and policymakers about MetS complexities, advocating for a cohesive, patient-centred management and prevention strategy. Emphasizing the multifactorial nature of MetS, this Primer calls for integrated public health efforts, personalized care and innovative research to address this escalating health issue.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"77"},"PeriodicalIF":76.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470356","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}
Dan J Stein, Daniel L C Costa, Christine Lochner, Euripedes C Miguel, Y C Janardhan Reddy, Roseli G Shavitt, Odile A van den Heuvel, H Blair Simpson
{"title":"Author Correction: Obsessive-compulsive disorder.","authors":"Dan J Stein, Daniel L C Costa, Christine Lochner, Euripedes C Miguel, Y C Janardhan Reddy, Roseli G Shavitt, Odile A van den Heuvel, H Blair Simpson","doi":"10.1038/s41572-024-00569-z","DOIUrl":"https://doi.org/10.1038/s41572-024-00569-z","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"79"},"PeriodicalIF":76.9,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470355","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}
Prem Puri, Florian Friedmacher, Marie-Klaire Farrugia, Shilpa Sharma, Ciro Esposito, Tej K Mattoo
{"title":"Primary vesicoureteral reflux.","authors":"Prem Puri, Florian Friedmacher, Marie-Klaire Farrugia, Shilpa Sharma, Ciro Esposito, Tej K Mattoo","doi":"10.1038/s41572-024-00560-8","DOIUrl":"https://doi.org/10.1038/s41572-024-00560-8","url":null,"abstract":"<p><p>Primary vesicoureteral reflux (VUR) is one of the most common urological abnormalities in infants and children. The association of VUR, urinary tract infection (UTI) and renal parenchymal damage is well established. The most serious complications of VUR-associated reflux nephropathy are hypertension and proteinuria with chronic kidney disease. Over the past two decades, our understanding of the natural history of VUR has improved, which has helped to identify patients at increased risk of both VUR and VUR-associated renal injury. The main goals in the treatment of paediatric patients with VUR are the prevention of recurrent UTIs and minimizing the risk of renal scarring and long-term renal impairment. Currently, there are four options for managing primary VUR in infants and children: surveillance or intermittent treatment of UTIs with management of bladder and bowel dysfunction; continuous antibiotic prophylaxis; endoscopic subureteral injection of tissue-augmenting substances; and ureteral reimplantation via open, laparoscopic or robotic-assisted surgery. Current debates regarding key aspects of management include when to perform diagnostic imaging and how to best identify the paediatric patients that will benefit from continuous antibiotic prophylaxis or surgical intervention, including endoscopic injection therapy and minimally invasive ureteral reimplantation. Evolving technologies, such as artificial intelligence, have the potential to assist clinicians in the decision-making process and in the individualization of diagnostic imaging and treatment of infants and children with VUR in the future.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"75"},"PeriodicalIF":76.9,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400788","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}
Deepani D Fernando, Kate E Mounsey, Charlotte Bernigaud, Nuzhat Surve, Guadalupe E Estrada Chávez, Roderick J Hay, Bart J Currie, Olivier Chosidow, Katja Fischer
{"title":"Scabies.","authors":"Deepani D Fernando, Kate E Mounsey, Charlotte Bernigaud, Nuzhat Surve, Guadalupe E Estrada Chávez, Roderick J Hay, Bart J Currie, Olivier Chosidow, Katja Fischer","doi":"10.1038/s41572-024-00552-8","DOIUrl":"https://doi.org/10.1038/s41572-024-00552-8","url":null,"abstract":"<p><p>Scabies is one of the most common and highest-burden skin diseases globally. Estimates suggest that >200 million people worldwide have scabies at any one time, with an annual prevalence of 455 million people, with children in impoverished and overcrowded settings being the most affected. Scabies infection is highly contagious and leads to considerable morbidity. Secondary bacterial infections are common and can cause severe health complications, including sepsis or necrotizing soft-tissue infection, renal damage and rheumatic heart disease. There is no vaccine or preventive treatment against scabies and, for the past 30 years, only few broad-spectrum antiparasitic drugs (mainly topical permethrin and oral ivermectin) have been widely available. Treatment failure is common because drugs have short half-lives and do not kill all developmental stages of the scabies parasite. At least two consecutive treatments are needed, which is difficult to achieve in resource-poor and itinerant populations. Another key issue is the lack of a practical, rapid, cheap and accurate diagnostic tool for the timely detection of scabies, which could prevent the cycle of exacerbation and disease persistence in communities. Scabies control will require a multifaceted approach, aided by improved diagnostics and surveillance, new treatments, and increased public awareness.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"74"},"PeriodicalIF":76.9,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372353","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":"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/s41572-024-00551-9","DOIUrl":"https://doi.org/10.1038/s41572-024-00551-9","url":null,"abstract":"<p><p>Non-small-cell lung cancer (NSCLC) is one of the most frequent cancer types and is responsible for the majority of cancer-related deaths worldwide. The management of NSCLC has improved considerably, especially in the past 10 years. The systematic screening of populations at risk with low-dose CT, the implementation of novel surgical and radiotherapeutic techniques and a deeper biological understanding of NSCLC that has led to innovative systemic treatment options have improved the prognosis of patients with NSCLC. In non-metastatic NSCLC, the combination of various perioperative strategies and adjuvant immunotherapy in locally advanced disease seem to enhance cure rates. In metastatic NSCLC, the implementation of novel drugs might prolong disease control together with preserving quality of life. The further development of predictive clinical and genetic markers will be essential for the next steps in individualized treatment concepts.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"71"},"PeriodicalIF":76.9,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350455","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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