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Annual review of medicine最新文献

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RASopathies in Cardiac Disease. 心脏病中的 RAS 病变。
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-042823-013552
Saravanakkumar Chennappan, Maria Irene Kontaridis
{"title":"RASopathies in Cardiac Disease.","authors":"Saravanakkumar Chennappan, Maria Irene Kontaridis","doi":"10.1146/annurev-med-042823-013552","DOIUrl":"10.1146/annurev-med-042823-013552","url":null,"abstract":"<p><p>RASopathies are a group of clinically overlapping autosomal dominant disorders caused primarily by mutations in genes that reside along the canonical Ras-mitogen-activated protein kinase signaling cascade. Though individually rare, collectively, these disorders constitute one of the largest families of congenital disorders worldwide, particularly for infantile hypertrophic cardiomyopathy. Significantly, despite almost five decades of RASopathy research, therapeutic options remain limited and focused primarily on treating symptoms rather than disease etiology. Targeting the genes causal to these disorders, and the nodal pathways critical for their regulation, however, has been challenging. In this review, we highlight these challenges, particularly with respect to congenital heart defects and cardiac diseases and discuss limitations and future directions for approaches to new therapeutic strategies.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"301-314"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685865","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}
引用次数: 0
Long-Term Risks of Living Kidney Donation: State of the Evidence and Strategies to Resolve Knowledge Gaps.
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 DOI: 10.1146/annurev-med-050223-112648
Vidya A Fleetwood, Ngan N Lam, Krista L Lentine
{"title":"Long-Term Risks of Living Kidney Donation: State of the Evidence and Strategies to Resolve Knowledge Gaps.","authors":"Vidya A Fleetwood, Ngan N Lam, Krista L Lentine","doi":"10.1146/annurev-med-050223-112648","DOIUrl":"10.1146/annurev-med-050223-112648","url":null,"abstract":"<p><p>Living-donor kidney transplantation is the preferred treatment for kidney failure. In the United States, rates of living kidney donation have been stagnant, which is partly related to concerns over medical and financial risks. Recent research has better characterized the risks of living kidney donation, although the field is limited by a lack of robust registries. Available evidence supports small increases in the risks of end-stage kidney disease and hypertensive disorders of pregnancy in living donors. For most donors, the 15-year risk of kidney failure is less than 1%, but for certain populations this risk may be higher. New tools such as genetic kidney disease panels may assist with risk stratification. Living kidney donors generally have similar or improved psychosocial health following donation compared to prior to donation and nondonor experience. Postdonation care allows for preventative care measures to mitigate risk as well as ongoing surveillance of donor outcomes. Continuing efforts to capture and report outcomes of living donation are necessary to safely expand living donation worldwide.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":"76 1","pages":"357-372"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051409","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}
引用次数: 0
Application and Expectations for Immune Checkpoint Blockade of LAG3 and TIGIT. 免疫检查点阻断LAG3和TIGIT的应用与展望。
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-080222-100847
Ecaterina Elena Dumbrava, Khaoula Ben Haj Frej, Elad Sharon, Hussein Tawbi
{"title":"Application and Expectations for Immune Checkpoint Blockade of LAG3 and TIGIT.","authors":"Ecaterina Elena Dumbrava, Khaoula Ben Haj Frej, Elad Sharon, Hussein Tawbi","doi":"10.1146/annurev-med-080222-100847","DOIUrl":"10.1146/annurev-med-080222-100847","url":null,"abstract":"<p><p>Immune checkpoint blockade targeting the novel targets of the lymphocyte activation gene 3 (LAG3) and the T cell immunoreceptor with Ig and immunoreceptor tyrosine-based inhibition motif domains (TIGIT) has marked a significant advancement in oncology, offering new therapeutic opportunities to fight diverse malignancies. This review covers the biological basis and clinical application of LAG3 and TIGIT inhibitors, highlighting pivotal trials and therapeutic outcomes. We underscore the use of dual therapy immune checkpoint blockade in enhancing antitumor immunity, particularly in settings where monotherapy has shown limited efficacy. Additionally, we address the emerging challenges such as treatment resistance and adverse effects. We explore the strategic integration of LAG3 and TIGIT blockade within the broader immunotherapy landscape, emphasizing innovative combinations and the quest for predictive biomarkers to optimize patient selection and treatment efficacy.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"189-205"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827072","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}
引用次数: 0
New Approaches to the Treatment of Hypercortisolism. 治疗皮质醇过多症的新方法。
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-071723-044849
Riccardo Pofi, Dario De Alcubierre, Jiawen Dong, Jeremy W Tomlinson
{"title":"New Approaches to the Treatment of Hypercortisolism.","authors":"Riccardo Pofi, Dario De Alcubierre, Jiawen Dong, Jeremy W Tomlinson","doi":"10.1146/annurev-med-071723-044849","DOIUrl":"10.1146/annurev-med-071723-044849","url":null,"abstract":"<p><p>This review explores the evolving landscape of treatments for hypercortisolism, highlighting both established and emerging therapies. Although surgery remains the cornerstone of management, medical therapies play a crucial and expanding role, especially in cases of persistent, recurrent, or severe hypercortisolism. We discuss the effectiveness and limitations of steroidogenesis inhibitors, pituitary-directed drugs, glucocorticoid receptor antagonists, and experimental drugs targeting novel molecular pathways that have been implicated in the pathogenesis of hypercortisolism. Despite advancements, significant unmet needs persist, underscoring the importance of personalized treatment approaches and the development of targeted therapies. Ongoing and future clinical trials are crucial for validating the safety and efficacy of these innovative treatments in Cushing disease management.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"431-445"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562583","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}
引用次数: 0
Medical Therapy Alone, Percutaneous Coronary Intervention, or Coronary Artery Bypass Grafting for Treatment of Coronary Artery Disease. 单纯药物治疗、经皮冠状动脉介入治疗或冠状动脉搭桥术治疗冠状动脉疾病。
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-050423-085207
Daniel K Amponsah, William F Fearon
{"title":"Medical Therapy Alone, Percutaneous Coronary Intervention, or Coronary Artery Bypass Grafting for Treatment of Coronary Artery Disease.","authors":"Daniel K Amponsah, William F Fearon","doi":"10.1146/annurev-med-050423-085207","DOIUrl":"10.1146/annurev-med-050423-085207","url":null,"abstract":"<p><p>In this review, we describe how the management of coronary artery disease (CAD) has become increasingly complex due to the rapid evolution of pharmacotherapy and procedural techniques. The expanding array of treatment options has driven researchers to investigate the optimal combination of therapies; while the findings offer invaluable insights, the sheer volume and occasional contradictions can foster confusion. Given the diverse spectrum of CAD and its manifestations, a tailored treatment decision is critical for each patient. We hope to demonstrate that by integrating the key messages from clinical trials and prioritizing patient comprehension and preference, healthcare providers can guide their patients toward appropriate treatment options, ultimately leading to enhanced care.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"267-281"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613617","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}
引用次数: 0
Normal Gut Microbiomes in Diverse Populations: Clinical Implications. 不同人群的正常肠道微生物群：临床意义。
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-051223-031809
Omprakash Shete, Tarini Shankar Ghosh
{"title":"Normal Gut Microbiomes in Diverse Populations: Clinical Implications.","authors":"Omprakash Shete, Tarini Shankar Ghosh","doi":"10.1146/annurev-med-051223-031809","DOIUrl":"10.1146/annurev-med-051223-031809","url":null,"abstract":"<p><p>The human microbiome is a sensor and modulator of physiology and homeostasis. Remarkable tractability underpins the promise of therapeutic manipulation of the microbiome. However, the definition of a normal or healthy microbiome has been elusive. This is in part due to the underrepresentation of minority groups and major global regions in microbiome studies to date. We review studies of the microbiome in different populations and highlight a commonality among health-associated microbiome signatures along with major drivers of variation. We also provide an overview of microbiome-associated therapeutic interventions for some widespread, widely studied diseases. We discuss sources of bias and the challenges associated with defining population-specific microbiome reference bases. We propose a roadmap for defining normal microbiome references that can be used for population-customized microbiome therapeutics and diagnostics.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"95-114"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666942","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}
引用次数: 0
New Therapeutic Options for BRCA Mutant Patients. BRCA突变患者的新治疗选择。
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-082523-083843
Anthony Ghanem, Susan M Domchek
{"title":"New Therapeutic Options for BRCA Mutant Patients.","authors":"Anthony Ghanem, Susan M Domchek","doi":"10.1146/annurev-med-082523-083843","DOIUrl":"10.1146/annurev-med-082523-083843","url":null,"abstract":"<p><p>Pathogenic variants in <i>BRCA1</i> and <i>BRCA2</i> are associated with significantly elevated lifetime risks of breast, ovarian, pancreatic, and prostate cancer. These genes are critical in double-strand break repair through homologous recombination. An understanding of the biology of <i>BRCA1</i> and <i>BRCA2</i> led to the development of targeted therapeutics, specifically poly(ADP-ribose) polymerase (PARP) inhibitors, which are approved by the US Food and Drug Administration for multiple <i>BRCA1/2</i>-associated cancers. Here, we discuss the development of PARP inhibitors, mechanisms of resistance, and the potential utility of these drugs beyond canonical <i>BRCA1/2</i> tumors, and we describe novel agents under study.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"175-187"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779068","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}
引用次数: 0
Lessons from the Use of Monoclonal Antibodies to SARS-CoV-2 Spike Protein During the COVID-19 Pandemic. COVID-19大流行期间使用SARS-CoV-2刺突蛋白单克隆抗体的经验教训
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 Epub Date: 2025-01-16 DOI: 10.1146/annurev-med-061323-073837
Arturo Casadevall, Daniele Focosi
{"title":"Lessons from the Use of Monoclonal Antibodies to SARS-CoV-2 Spike Protein During the COVID-19 Pandemic.","authors":"Arturo Casadevall, Daniele Focosi","doi":"10.1146/annurev-med-061323-073837","DOIUrl":"10.1146/annurev-med-061323-073837","url":null,"abstract":"<p><p>Monoclonal antibodies (mAbs) targeting the SARS-CoV-2 Spike protein were deployed during the COVID-19 pandemic. While all of the clinically authorized mAbs were eventually defeated by SARS-CoV-2 variants, they were highly effective in preventing disease progression when given early in the course of the disease. The experience with mAbs to SARS-CoV-2 offers important lessons for the use of mAbs in future infectious disease emergencies, such as choosing mAbs that target conserved epitopes and designing cocktails to reduce the emergence of escape variants. Planning for future use must include the creation of infusion centers and the development of strategies to minimize the emergence of escape variants.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":" ","pages":"1-12"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779059","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}
引用次数: 0
Hidradenitis Suppurativa.
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 DOI: 10.1146/annurev-med-051223-031234
S McCarthy
{"title":"Hidradenitis Suppurativa.","authors":"S McCarthy","doi":"10.1146/annurev-med-051223-031234","DOIUrl":"10.1146/annurev-med-051223-031234","url":null,"abstract":"<p><p>Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by the formation of nodules, abscesses, and fistulae at intertriginous sites. Pain, pruritus, malodor, and suppuration have a significant impact on quality of life for HS patients. Prevalence figures vary greatly in the literature from 0.05% to 4.1%, and HS is more common in females. The current understanding of the etiology and pathogenesis of HS is incomplete; numerous hypotheses concern the interplay of lifestyle factors, skin microbiota, genetics, and a dysregulated immune system. Due to its phenotypic heterogeneity and multifactorial pathogenesis, HS is a complex disease that can prove challenging to manage. Two approved biologic therapies for the management of HS have led to clinical response in approximately 50% of treated patients. New therapies targeting the interleukin (IL)-1, IL-17, IL-36, and Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathways are in ongoing clinical trials, and preliminary data offer hope for greater clinical efficacy in HS in the future.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":"76 1","pages":"69-80"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051408","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}
引用次数: 0
New Oral Selective Estrogen Receptor Degraders Redefine Management of Estrogen Receptor-Positive Breast Cancer.
IF 15.1 1区 医学
Annual review of medicine Pub Date : 2025-01-01 DOI: 10.1146/annurev-med-052423-122001
Neha Pathak, Mafalda Oliveira
{"title":"New Oral Selective Estrogen Receptor Degraders Redefine Management of Estrogen Receptor-Positive Breast Cancer.","authors":"Neha Pathak, Mafalda Oliveira","doi":"10.1146/annurev-med-052423-122001","DOIUrl":"10.1146/annurev-med-052423-122001","url":null,"abstract":"<p><p>Oral selective estrogen receptor degraders (SERDs) are pure estrogen receptor antagonists that have the potential to overcome common resistance mechanisms to endocrine therapy in estrogen receptor-positive breast cancer. There are currently five oral SERDs in published and ongoing clinical trials-elacestrant, camizestrant, giredestrant, imlunestrant, and amcenestrant-with more in development. They offer a reasonably well-tolerated oral therapy option with low discontinuation rates in studies. This review summarizes the currently available literature on this new class of drugs.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":"76 1","pages":"243-255"},"PeriodicalIF":15.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051410","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}
引用次数: 0
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