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Annual review of medicine最新文献

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Hepcidin and Iron in Health and Disease. Hepcidin和铁在健康和疾病中的作用。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-043021-032816
Elizabeta Nemeth, Tomas Ganz
{"title":"Hepcidin and Iron in Health and Disease.","authors":"Elizabeta Nemeth,&nbsp;Tomas Ganz","doi":"10.1146/annurev-med-043021-032816","DOIUrl":"https://doi.org/10.1146/annurev-med-043021-032816","url":null,"abstract":"<p><p>Hepcidin, the iron-regulatory hormone, determines plasma iron concentrations and total body iron content. Hepcidin, secreted by hepatocytes, functions by controlling the activity of the cellular iron exporter ferroportin, which delivers iron to plasma from intestinal iron absorption and from iron stores. Hepcidin concentration in plasma is increased by iron loading and inflammation and is suppressed by erythropoietic stimulation and during pregnancy. Hepcidin deficiency causes iron overload in hemochromatosis and anemias with ineffective erythropoiesis. Hepcidin excess causes iron-restrictive anemias including anemia of inflammation. The development of hepcidin diagnostics and therapeutic agonists and antagonists should improve the treatment of iron disorders.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10748513","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}
引用次数: 29
Exome/Genome Sequencing in Undiagnosed Syndromes. 未诊断综合征的外显子组/基因组测序。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-110721
Jennifer A Sullivan, Kelly Schoch, Rebecca C Spillmann, Vandana Shashi
{"title":"Exome/Genome Sequencing in Undiagnosed Syndromes.","authors":"Jennifer A Sullivan,&nbsp;Kelly Schoch,&nbsp;Rebecca C Spillmann,&nbsp;Vandana Shashi","doi":"10.1146/annurev-med-042921-110721","DOIUrl":"https://doi.org/10.1146/annurev-med-042921-110721","url":null,"abstract":"<p><p>Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels, has enabled previously unimaginable diagnoses, changes in medical management, new treatments, and accurate reproductive risk assessments for patients, as well as new disease gene discoveries. Yet, challenges remain, as most individuals remain undiagnosed with current NGS. Improved NGS technology has resulted in long-read sequencing, which may resolve diagnoses in some patients who do not obtain a diagnosis with current short-read ES and GS, but its effectiveness is unclear, and it is expensive. Other challenges that persist include the resolution of variants of uncertain significance, the urgent need for patients with ultrarare disorders to have access to therapeutics, the need for equity in patient access to NGS-based testing, and the study of ethical concerns. However, the outlook for undiagnosed disease resolution is bright, due to continual advancements in the field.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10166378","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}
引用次数: 6
Biological Phenotyping in Sepsis and Acute Respiratory Distress Syndrome. 脓毒症和急性呼吸窘迫综合征的生物学表型。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 Epub Date: 2022-12-05 DOI: 10.1146/annurev-med-043021-014005
Pratik Sinha, Nuala J Meyer, Carolyn S Calfee
{"title":"Biological Phenotyping in Sepsis and Acute Respiratory Distress Syndrome.","authors":"Pratik Sinha, Nuala J Meyer, Carolyn S Calfee","doi":"10.1146/annurev-med-043021-014005","DOIUrl":"10.1146/annurev-med-043021-014005","url":null,"abstract":"<p><p>Heterogeneity in sepsis and acute respiratory distress syndrome (ARDS) is increasingly being recognized as one of the principal barriers to finding efficacious targeted therapies. The advent of multiple high-throughput biological data (\"omics\"), coupled with the widespread access to increased computational power, has led to the emergence of phenotyping in critical care. Phenotyping aims to use a multitude of data to identify homogenous subgroups within an otherwise heterogenous population. Increasingly, phenotyping schemas are being applied to sepsis and ARDS to increase understanding of these clinical conditions and identify potential therapies. Here we present a selective review of the biological phenotyping schemas applied to sepsis and ARDS. Further, we outline some of the challenges involved in translating these conceptual findings to bedside clinical decision-making tools.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10177870","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}
引用次数: 0
FGFR2 Inhibition in Cholangiocarcinoma. FGFR2在胆管癌中的抑制作用
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-024707
Arndt Vogel, Oreste Segatto, Albrecht Stenzinger, Anna Saborowski
{"title":"FGFR2 Inhibition in Cholangiocarcinoma.","authors":"Arndt Vogel,&nbsp;Oreste Segatto,&nbsp;Albrecht Stenzinger,&nbsp;Anna Saborowski","doi":"10.1146/annurev-med-042921-024707","DOIUrl":"https://doi.org/10.1146/annurev-med-042921-024707","url":null,"abstract":"<p><p>Biliary tract cancer (BTC) is the second most common primary liver cancer after hepatocellular carcinoma and accounts for 2% of cancer-related deaths. BTCs are classified according to their anatomical origin into intrahepatic (iCCA), perihilar, or distal cholangiocarcinoma, as well as gall bladder carcinoma. While the mutational profiles in these anatomical BTC subtypes overlap to a large extent, iCCA is notable for the high frequency of IDH1/2 mutations (10-22%) and the nearly exclusive occurrence of FGFR2 fusions in 10-15% of patients. In recent years, FGFR2 fusions have become one of the most promising targets for precision oncology targeting BTC, with FGFR inhibitors already approved in Europe and the United States for patients with advanced, pretreated iCCA. While the therapeutic potential of nonfusion alterations is still under debate, it is expected that the field of FGFR2-directed therapies will be subject to rapid further evolution and optimization. The scope of this review is to provide an overview of oncogenic FGFR signaling in iCCA cells and highlight the pathophysiology, diagnostic testing strategies, and therapeutic promises and challenges associated with FGFR2-altered iCCA.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10671781","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: 6
Valvular Heart Disease: New Concepts in Pathophysiology and Therapeutic Approaches. 瓣膜性心脏病:病理生理学和治疗方法的新概念。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-122533
Mackram F Eleid, Vuyisile T Nkomo, Sorin V Pislaru, Bernard J Gersh
{"title":"Valvular Heart Disease: New Concepts in Pathophysiology and Therapeutic Approaches.","authors":"Mackram F Eleid,&nbsp;Vuyisile T Nkomo,&nbsp;Sorin V Pislaru,&nbsp;Bernard J Gersh","doi":"10.1146/annurev-med-042921-122533","DOIUrl":"https://doi.org/10.1146/annurev-med-042921-122533","url":null,"abstract":"<p><p>This review discusses recent advancements in the field of valvular heart disease. Topics covered include recognition of the impact of atrial fibrillation on development and assessment of valvular disease, strategies for global prevention of rheumatic heart disease, understanding and management of secondary mitral regurgitation, the updated classification of bicuspid aortic valve disease, recognition of heightened cardiovascular risk associated with moderate aortic stenosis, and a growing armamentarium of transcatheter therapies.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10678930","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: 1
Use of Race in Kidney Function Estimation: Lessons Learned and the Path Toward Health Justice. 种族在肾功能评估中的应用:经验教训与健康公正之路。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-124419
Dinushika Mohottige, Opeyemi Olabisi, L Ebony Boulware
{"title":"Use of Race in Kidney Function Estimation: Lessons Learned and the Path Toward Health Justice.","authors":"Dinushika Mohottige,&nbsp;Opeyemi Olabisi,&nbsp;L Ebony Boulware","doi":"10.1146/annurev-med-042921-124419","DOIUrl":"https://doi.org/10.1146/annurev-med-042921-124419","url":null,"abstract":"<p><p>In 2020, the nephrology community formally interrogated long-standing race-based clinical algorithms used in the field, including the kidney function estimation equations. A comprehensive understanding of the history of kidney function estimation and racial essentialism is necessary to understand underpinnings of the incorporation of a Black race coefficient into prior equations. We provide a review of this history, as well as the considerations used to develop race-free equations that are a guidepost for a more equity-oriented, scientifically rigorous future for kidney function estimation and other clinical algorithms and processes in which race may be embedded as a variable.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9258106","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: 1
Origins of Racial and Ethnic Bias in Pulmonary Technologies. 肺技术中种族和民族偏见的起源。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-043021-024004
Michael W Sjoding, Sardar Ansari, Thomas S Valley
{"title":"Origins of Racial and Ethnic Bias in Pulmonary Technologies.","authors":"Michael W Sjoding,&nbsp;Sardar Ansari,&nbsp;Thomas S Valley","doi":"10.1146/annurev-med-043021-024004","DOIUrl":"https://doi.org/10.1146/annurev-med-043021-024004","url":null,"abstract":"<p><p>Understanding how biases originate in medical technologies and developing safeguards to identify, mitigate, and remove their harms are essential to ensuring equal performance in all individuals. Drawing upon examples from pulmonary medicine, this article describes how bias can be introduced in the physical aspects of the technology design, via unrepresentative data, or by conflation of biological with social determinants of health. It then can be perpetuated by inadequate evaluation and regulatory standards. Research demonstrates that pulse oximeters perform differently depending on patient race and ethnicity. Pulmonary function testing and algorithms used to predict healthcare needs are two additional examples of medical technologies with racial and ethnic biases that may perpetuate health disparities.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883596/pdf/nihms-1827689.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9225575","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}
引用次数: 4
COVID-19 and Kidney Disease. COVID-19和肾脏疾病。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042420-104753
Maureen Brogan, Michael J Ross
{"title":"COVID-19 and Kidney Disease.","authors":"Maureen Brogan,&nbsp;Michael J Ross","doi":"10.1146/annurev-med-042420-104753","DOIUrl":"https://doi.org/10.1146/annurev-med-042420-104753","url":null,"abstract":"<p><p>COVID-19 can cause acute kidney injury and may cause or exacerbate chronic kidney diseases, including glomerular diseases. SARS-CoV-2 infection of kidney cells has been reported, but it remains unclear if viral infection of kidney cells causes disease. The most important causes of kidney injury in patients with COVID-19 include impaired renal perfusion and immune dysregulation. Chronic kidney disease, especially kidney failure with kidney replacement therapy and kidney transplant, is associated with markedly increased COVID-19 mortality. Persons with severe kidney disease have been excluded from most clinical trials of COVID-19 therapies, so therapeutic approaches must be extrapolated from studies of patients without kidney disease. Some medications used to treat COVID-19 should be avoided or used at reduced dosages in patients with severe kidney disease and in kidney transplant recipients. Additional research is needed to determine the optimal strategies to prevent and treat COVID-19 in patients with kidney disease.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9240737","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: 2
SARS-CoV-2 Vaccination-Induced Thrombotic Thrombocytopenia: A Rare but Serious Immunologic Complication. SARS-CoV-2疫苗诱导的血栓性血小板减少:一种罕见但严重的免疫并发症。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-043021-015237
Charles S Abrams, Geoffrey D Barnes
{"title":"SARS-CoV-2 Vaccination-Induced Thrombotic Thrombocytopenia: A Rare but Serious Immunologic Complication.","authors":"Charles S Abrams,&nbsp;Geoffrey D Barnes","doi":"10.1146/annurev-med-043021-015237","DOIUrl":"https://doi.org/10.1146/annurev-med-043021-015237","url":null,"abstract":"<p><p>Billions of individuals worldwide have benefited from the unprecedented large-scale rollout of COVID-19 vaccines. Given the sheer number of people that have received these vaccines, it is not surprising that rare side effects are reported that were not previously detected in the phase III vaccine trials. This review addresses one rare complication called SARS-CoV-2 vaccination-induced thrombotic thrombocytopenia (VITT). It occurs in approximately 1/50,000 to 1/100,000 recipients of the adenovirus vector-based COVID-19 vaccines made by AstraZeneca-Oxford or Johnson & Johnson. Information on VITT syndrome was disseminated quickly via social media and publications after it was first discovered. Initial observations associating VITT with specific patient populations, thrombus locations, and outcomes associated with heparin therapy have since been refined with additional clinical experience. In this review, we discuss what is currently known about the incidence, pathophysiology, diagnosis, and treatment of VITT.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9136099","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: 6
COVID-19 Thrombotic Complications and Therapeutic Strategies. COVID-19血栓形成并发症和治疗策略。
IF 10.5 1区 医学
Annual review of medicine Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-110257
Alexander C Fanaroff, Renato D Lopes
{"title":"COVID-19 Thrombotic Complications and Therapeutic Strategies.","authors":"Alexander C Fanaroff,&nbsp;Renato D Lopes","doi":"10.1146/annurev-med-042921-110257","DOIUrl":"https://doi.org/10.1146/annurev-med-042921-110257","url":null,"abstract":"<p><p>Shortly after the emergence of coronavirus disease 2019 (COVID-19) in late 2019, clinicians rapidly recognized an apparent association between the disease and both arterial and venous thrombotic complications, which was confirmed in epidemiologic studies. Based on these data, hospitals empirically developed and implemented protocols with different strategies for anticoagulation of hospitalized COVID-19 patients. Subsequent randomized controlled trials (RCTs) clarified the role of anticoagulation in patients hospitalized with COVID-19 and recently discharged from the hospital. In this review, we discuss the epidemiology and pathophysiology of thrombosis in patients with COVID-19, observational comparative effectiveness analyses that provided hints of a benefit from anticoagulation, and finally the RCTs that established which patients with COVID-19 benefit from treatment-dose anticoagulation. These RCTs have demonstrated that hospitalized, noncritically ill patients with COVID-19 benefit from treatment-dose anticoagulation, but patients who are hospitalized and critically ill, discharged from the hospital, or not hospitalized do not benefit.</p>","PeriodicalId":8056,"journal":{"name":"Annual review of medicine","volume":null,"pages":null},"PeriodicalIF":10.5,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9240750","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: 3
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