Franc Strle, Klemen Strle, Adriana Marques, Anna J Henningsson, Randi Eikeland, Jacob E Lemieux, Jean I Tsao, Paul S Mead, Gary P Wormser
{"title":"Lyme borreliosis.","authors":"Franc Strle, Klemen Strle, Adriana Marques, Anna J Henningsson, Randi Eikeland, Jacob E Lemieux, Jean I Tsao, Paul S Mead, Gary P Wormser","doi":"10.1038/s41572-026-00691-0","DOIUrl":"10.1038/s41572-026-00691-0","url":null,"abstract":"<p><p>Lyme borreliosis is the most common tick-borne disease in the northern hemisphere. It is a zoonosis caused by several species of Borrelia burgdorferi sensu lato and transmitted by the bite of infected ticks of the Ixodes ricinus complex. Lyme borreliosis in North America and Europe differs in certain respects, likely reflecting the different Borrelia species that cause human disease in these locations. The earliest manifestation of Lyme borreliosis is the skin lesion erythema migrans, which develops at the tick bite site, typically 7-14 days after the bite. Some untreated patients will then (within the first few weeks or months after onset of the infection) develop additional erythema migrans skin lesions or other clinical manifestations such as borrelial lymphocytoma, nervous system involvement or carditis. Several months or even years after infection onset, Lyme arthritis or acrodermatitis chronica atrophicans may develop. The diagnosis of typical erythema migrans is clinical, whereas for all other manifestations the diagnosis is supported via serological testing. Treatment with an appropriate antibiotic will result in resolution of clinical symptoms in most patients; however, some patients experience prolonged subjective symptoms, which usually improve over time. Repeated courses of antimicrobials are not beneficial except in rare cases when there is objective evidence of treatment failure.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":76.9,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521410","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}
Melanie J Davies, Soo Lim, Tommy Slater, Jonathan Goldney, Athena Philis-Tsimikas, Denise R Franco, Roberta Lamptey, Thomas Yates, Tsvetalina Tankova, Ildiko Lingvay
{"title":"Type 2 diabetes mellitus.","authors":"Melanie J Davies, Soo Lim, Tommy Slater, Jonathan Goldney, Athena Philis-Tsimikas, Denise R Franco, Roberta Lamptey, Thomas Yates, Tsvetalina Tankova, Ildiko Lingvay","doi":"10.1038/s41572-026-00687-w","DOIUrl":"https://doi.org/10.1038/s41572-026-00687-w","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) is a chronic, progressive disease driven by a complex interplay of genetic, biological, behavioural and social factors. The epidemiology of T2DM has shifted considerably, largely attributable to increasing obesity rates. Furthermore, T2DM prevalence is increasing in younger people (diagnosis <40 years of age; early-onset T2DM), which is associated with more aggressive disease progression, higher risk factor burden, earlier and more severe complications, and greater lifetime morbidity than later-onset T2DM. T2DM is traditionally associated with a high risk of microvascular and macrovascular complications, although rates of cardiovascular complications have reduced in some high-income countries. Currently, emerging and non-traditional diabetes complications, such as those related to mental health and cognitive function, are being recognized, and people with T2DM increasingly experience multimorbidity and reduced quality of life. Additionally, a growing prevalence of obesity has resulted in high rates of obesity-related complications. Novel therapies and technologies may offer considerable benefit, although socioeconomic disparities may exacerbate barriers to effective prevention and equitable access. The complex nature of T2DM and its comorbidities underscores the urgent need for a person-centred, holistic approach that integrates glucose and weight management with broader attention to comorbidities, 24-h physical behaviours, psychosocial well-being and social determinants of health.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":76.9,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486522","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}
Kellen Winden, E Martina Bebin, Shafali Jeste, Darcy A Krueger, Elahna Paul, Mustafa Sahin
{"title":"Tuberous sclerosis complex.","authors":"Kellen Winden, E Martina Bebin, Shafali Jeste, Darcy A Krueger, Elahna Paul, Mustafa Sahin","doi":"10.1038/s41572-026-00688-9","DOIUrl":"https://doi.org/10.1038/s41572-026-00688-9","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":76.9,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147443917","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}
Clare L Scott, Susana Banerjee, Florence Joly, Jung-Min Lee, Asima Mukhopadhyay, David S Tan, Elise C Kohn
{"title":"Ovarian cancer.","authors":"Clare L Scott, Susana Banerjee, Florence Joly, Jung-Min Lee, Asima Mukhopadhyay, David S Tan, Elise C Kohn","doi":"10.1038/s41572-026-00686-x","DOIUrl":"10.1038/s41572-026-00686-x","url":null,"abstract":"<p><p>Epithelial ovarian cancer (EOC) describes a group of diseases characterized by differing pathogeneses, molecular profiles, histologies and prognoses. The low incidence of each distinct histological type of EOC poses challenges for obtaining an accurate diagnosis, robust evidence to guide management, and a mechanistic understanding to ensure availability of effective therapies. Most EOCs, including high-grade serous ovarian cancer, predominantly originate from the fimbriated ends of the fallopian tube, whereas low-grade serous, clear cell, endometrioid and mucinous EOCs are thought to originate from other tissues. Despite recognized genetic susceptibilities for the disease, no effective screening is available and late-stage diagnosis remains common. Known genetic susceptibilities are addressed by risk reduction surgery including removal of both fallopian tubes and both ovaries. Management is predominantly based on adequate surgery and chemotherapy with carboplatin and paclitaxel, with the addition of anti-angiogenic therapy as indicated. The incorporation of poly(ADP-ribose) polymerase inhibitors into first-line therapy has considerably altered outcomes in some women with EOC who have defective homologous recombination DNA repair, including in those with BRCA1 and/or BRCA2 mutations. Other molecular characteristics are important in distinct types of EOC, but the use of matched targeted therapies remains under investigation, as does the role of immunotherapy for EOC, for which trial data have been disappointing to date. Translationally enriched clinical trials will be important to further explore and validate accurate biomarkers to better guide clinical care.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":76.9,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147365594","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}
Liesl Zühlke, Andrea Beaton, Mark Engel, Anu Gomanju, Raman Kirshna Kumar, James Marangou, Neema Minja, Nicole J Moreland, Emmy Okello, Jafesi Pulle, Joselyn Rwebembera, David Watkins, Chris Yilgwan, Jonathan Carapetis
{"title":"Acute rheumatic fever and rheumatic heart disease.","authors":"Liesl Zühlke, Andrea Beaton, Mark Engel, Anu Gomanju, Raman Kirshna Kumar, James Marangou, Neema Minja, Nicole J Moreland, Emmy Okello, Jafesi Pulle, Joselyn Rwebembera, David Watkins, Chris Yilgwan, Jonathan Carapetis","doi":"10.1038/s41572-026-00685-y","DOIUrl":"10.1038/s41572-026-00685-y","url":null,"abstract":"<p><p>Acute rheumatic fever (ARF), the acute autoimmune sequela of group A Streptococcus infection, and its chronic life-threatening manifestation, rheumatic heart disease (RHD), which causes permanent heart valve damage, remain major drivers of preventable cardiovascular mortality and disability in low-income and middle-income countries. Since the mid-1990s, multidisciplinary and international collaborative research has yielded new insights into the role of superficial skin infections such as impetigo in ARF pathogenesis and the disease mechanisms that underlie the progression from ARF to RHD, and has explored novel treatments and delivery mechanisms in clinical trials and progressed the development of Strep A vaccines. Early detection and patient care have advanced, with revised echocardiographic screening criteria and the 2024 WHO guidelines, which provide a framework for evidence-based management and therapeutic strategies. Notwithstanding these advancements, considerable disparity persists in the care, control and treatment of advanced disease, necessitating coordinated programmes, prioritization by global agencies and local governments, and substantial involvement of those with RHD. Of note, few to no cardiac surgery programmes exist in some countries most burdened by RHD. Future research must encompass implementation studies for validated evidence-based therapies, translational technologies and applications, together with a definitive pathway to direct patient effect, to achieve the WHO target of eliminating RHD as a public health problem.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"12 1","pages":""},"PeriodicalIF":76.9,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147308170","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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