Advances in experimental medicine and biology最新文献

{"title":"Molecular Pathways and Animal Models of Ebstein's Anomaly.","authors":"Bjarke Jensen, Gregor U Andelfinger, Alex V Postma","doi":"10.1007/978-3-031-44087-8_58","DOIUrl":"https://doi.org/10.1007/978-3-031-44087-8_58","url":null,"abstract":"<p><p>Ebstein's anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this entity are the downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Additional intracardiac malformations are common. From an embryological point of view, the cavity of the future right atrium does not have a direct orifice connected to the developing right ventricle. This chapter provides an overview of current insight into how this connection is formed and how malformations of the tricuspid valve arise from dysregulation of molecular and morphological events involved in this process. Furthermore, mouse models that show features of Ebstein's anomaly and the naturally occurring model of canine tricuspid valve malformation are described and compared to the human model. Although Ebstein's anomaly remains one of the least understood cardiac malformations to date, the studies summarized here provide, in aggregate, evidence for monogenic and oligogenic factors driving pathogenesis.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Contractile Machines of the Heart.","authors":"Ingo Morano","doi":"10.1007/978-3-031-44087-8_21","DOIUrl":"https://doi.org/10.1007/978-3-031-44087-8_21","url":null,"abstract":"<p><p>This chapter will describe basic structural and functional features of the contractile apparatus of muscle cells of the heart, namely, cardiomyocytes and smooth muscle cells. Cardiomyocytes form the contractile myocardium of the heart, while smooth muscle cells form the contractile coronary vessels. Both muscle types have distinct properties and will be considered with respect to their cellular appearance (brick-like cross-striated versus spindle-like smooth), arrangement of contractile proteins (sarcomeric versus non-sarcomeric organization), calcium activation mechanisms (thin-filament versus thick-filament regulation), contractile features (fast and phasic versus slow and tonic), energy metabolism (high oxygen versus low oxygen demand), molecular motors (type II myosin isoenzymes with high adenosine diphosphate [ADP]-release rate versus myosin isoenzymes with low ADP-release rates), chemomechanical energy conversion (high adenosine triphosphate [ATP] consumption and short duty ratio versus low ATP consumption and high duty ratio of myosin II cross-bridges [XBs]), and excitation-contraction coupling (calcium-induced calcium release versus pharmacomechanical coupling). Part of the work has been published (Neuroscience - From Molecules to Behavior\", Chap. 22, Galizia and Lledo eds 2013, Springer-Verlag; with kind permission from Springer Science + Business Media).</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac Metabolism.","authors":"Silvia Martin-Puig, Ivan Menendez-Montes","doi":"10.1007/978-3-031-44087-8_19","DOIUrl":"https://doi.org/10.1007/978-3-031-44087-8_19","url":null,"abstract":"<p><p>The heart is composed of a heterogeneous mixture of cellular components perfectly intermingled and able to integrate common environmental signals to ensure proper cardiac function and performance. Metabolism defines a cell context-dependent signature that plays a critical role in survival, proliferation, or differentiation, being a recognized master piece of organ biology, modulating homeostasis, disease progression, and adaptation to tissue damage. The heart is a highly demanding organ, and adult cardiomyocytes require large amount of energy to fulfill adequate contractility. However, functioning under oxidative mitochondrial metabolism is accompanied with a concomitant elevation of harmful reactive oxygen species that indeed contributes to the progression of several cardiovascular pathologies and hampers the regenerative capacity of the mammalian heart. Cardiac metabolism is dynamic along embryonic development and substantially changes as cardiomyocytes mature and differentiate within the first days after birth. During early stages of cardiogenesis, anaerobic glycolysis is the main energetic program, while a progressive switch toward oxidative phosphorylation is a hallmark of myocardium differentiation. In response to cardiac injury, different signaling pathways participate in a metabolic rewiring to reactivate embryonic bioenergetic programs or the utilization of alternative substrates, reflecting the flexibility of heart metabolism and its central role in organ adaptation to external factors. Despite the well-established metabolic pattern of fetal, neonatal, and adult cardiomyocytes, our knowledge about the bioenergetics of other cardiac populations like endothelial cells, cardiac fibroblasts, or immune cells is limited. Considering the close intercellular communication and the influence of nonautonomous cues during heart development and after cardiac damage, it will be fundamental to better understand the metabolic programs in different cardiac cells in order to develop novel interventional opportunities based on metabolic rewiring to prevent heart failure and improve the limited regenerative capacity of the mammalian heart.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human Genetics of Atrioventricular Septal Defect.","authors":"Cheryl L Maslen","doi":"10.1007/978-3-031-44087-8_30","DOIUrl":"https://doi.org/10.1007/978-3-031-44087-8_30","url":null,"abstract":"<p><p>Atrioventricular septal defects (AVSD), also known as a common atrioventricular canal (CAVC), are clinically severe heart malformations that affect about 1 out of every 2100 live births. AVSD makes up about 5% of all congenital heart defects. AVSD is associated with cytogenetic disorders such as Down syndrome and numerous other rare genetic syndromes, but also occurs as a simplex trait. Studies in mouse models have identified over 100 genetic mutations that have the potential to cause an AVSD. However, studies in humans indicate that AVSD is genetically heterogeneous, and that the cause in humans is very rarely a single-gene defect. Familial cases do occur albeit rarely, usually with autosomal dominant inheritance and variable expression. In addition, the frequent occurrence of AVSD in some syndromes with known genetic causes such as heterotaxy syndrome points to additional genes/pathways that increase AVSD risk. Accordingly, while the genetic underpinnings for most AVSD remain unknown, there have been advances in identifying genetic risk factors for AVSD in both syndromic and nonsyndromic cases. This chapter summarizes the current knowledge of the genetic basis for AVSD.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Pathways and Animal Models of Atrial Septal Defect.","authors":"Rachel A Magnan, Lillian Kang, Karl R Degenhardt, Robert H Anderson, Patrick Y Jay","doi":"10.1007/978-3-031-44087-8_25","DOIUrl":"https://doi.org/10.1007/978-3-031-44087-8_25","url":null,"abstract":"<p><p>The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.","authors":"Cornelia Dorn, Andreas Perrot, Marcel Grunert, Silke Rickert-Sperling","doi":"10.1007/978-3-031-44087-8_36","DOIUrl":"https://doi.org/10.1007/978-3-031-44087-8_36","url":null,"abstract":"<p><p>Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and the neural crest, which can occur as isolated malformations or as part of multiorgan syndromes. Their etiology is multifactorial and characterized by overlapping genetic causes. In this chapter, we present the different genetic alterations underlying the two diseases, which range from chromosomal abnormalities like aneuploidies and structural mutations to rare single nucleotide variations affecting distinct genes. For example, mutations in the cardiac transcription factors NKX2-5, GATA4, and HAND2 have been identified in isolated TOF cases, while mutations of TBX5 and 22q11 deletion, leading to haploinsufficiency of TBX1, cause Holt-Oram and DiGeorge syndrome, respectively. Moreover, genes involved in signaling pathways, laterality determination, and epigenetic mechanisms have also been found mutated in TOF and/or DORV patients. Finally, genome-wide association studies identified common single nucleotide polymorphisms associated with the risk for TOF.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19, Social Media Dependency and Desire for Omnipresence: Ways Forward.","authors":"Camila Mozzini-Alister","doi":"10.1007/978-3-031-61943-4_10","DOIUrl":"https://doi.org/10.1007/978-3-031-61943-4_10","url":null,"abstract":"<p><p>From 2020 until 2023, the process of vaccination and progressive control of the SARS-CoV-2 or \"Covid-19\" virus has allowed for monitored movement to come back. Within this short window of historical reflexion, this chapter aims to bring light to the current context of social media uses and abuses through the lens of the notion of desire for omnipresence. For that, this study articulates this goal through three different layers of analysis: first, by investigating the emergence, management and incitement of what can be described as structurally addictive platforms of online interaction and how they entail a biopolitics of social media dependency; second, by providing in the notion of desire for omnipresence, a framework to understand the driving force for our current wish to subjectively deterritorialize ourselves toward the limitlessness through a zoopolitics where the virtual profile becomes a mode and a model of existence; finally, by pointing out ways \"forward\" that disrupt the ordinary understanding of linearity and progress to promote modes of un-marketization of life and human affections with the aim of transforming of our current desire for omnipresence into a genuine desire for presence.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Evolution of Active Learning in Response to the Pandemic: The Role of Technology.","authors":"Alejandra Maldonado-Trapp, Carola Bruna","doi":"10.1007/978-3-031-61943-4_16","DOIUrl":"https://doi.org/10.1007/978-3-031-61943-4_16","url":null,"abstract":"<p><p>Active learning has consistently played a significant role in education. Through interactive tasks, group projects, and a variety of engaging activities, students are encouraged to forge connections with the subject matter. However, the pandemic has necessitated that educators adapt and refine their active learning techniques to accommodate the online environment. This has resulted in stimulating innovations in the field, encompassing virtual simulations, online collaboration tools, and interactive multimedia. The COVID-19 pandemic has rapidly transformed the landscape of teaching and learning, particularly in higher education. One of the most prominent shifts has been the widespread adoption of active learning techniques, which have increased student engagement and fostered deeper learning experiences. In this chapter, we examine the evolution of active learning during the pandemic, emphasizing its advantages and challenges. Furthermore, we delve into the role of advances in artificial intelligence and their potential to enhance the effectiveness of active learning approaches. As we once focused on leveraging the opportunities of remote teaching, we must now shift our attention to harnessing the power of AI responsibly and ethically to benefit our students. Drawing from our expertise in educational innovation, we provide insights and recommendations for educators aiming to maximize the benefits of active learning in the post-pandemic era.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How Has High School Learned from the Global Pandemic?","authors":"Zhanna N Maslova","doi":"10.1007/978-3-031-61943-4_18","DOIUrl":"https://doi.org/10.1007/978-3-031-61943-4_18","url":null,"abstract":"<p><p>The study focuses on the consequences of the pandemic for the further development of higher education. The purpose of the article is to summarize the main consequences of the pandemic, which have become the result of scientific analysis and the object of many scientific studies. These are the degree of students' satisfaction with online learning, technological readiness of universities, the impact of new learning conditions on the psychological and emotional sphere, the problem of cheating at examinations, the problem of quality of education. Analysis of studies shows that in the academic environment there are different estimates of the pandemic period, sometimes they are of opposite nature. In spite of possibilities of online education universities tend to return to the full-time form of education. The study emphasizes that there are long-term consequences of the pandemic that are on the periphery of researchers' attention. These are the legal and economic consequences for universities, as the online form of learning has acquired a different legal status. In addition, the introduction of online learning is inevitably associated with additional hardware and software costs. Another important consequence is the impact of the pandemic on academic culture. Under the pandemic, students were isolated from the traditional academic environment, which affected the transformation of social rituals and academic ethics. Academic Values. Since there has been no complete return to previous conditions and the threat of a global pandemic exists, the new experience is integrated into the existing system of academic values and serves as a trigger for change in the long term.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis.","authors":"Alexei A Grom","doi":"10.1007/978-3-031-59815-9_9","DOIUrl":"https://doi.org/10.1007/978-3-031-59815-9_9","url":null,"abstract":"<p><p>Macrophage activation syndrome (MAS) is a life-threatening episode of hyperinflammation driven by excessive activation and expansion of T cells (mainly CD8) and hemophagocytic macrophages producing proinflammatory cytokines. MAS has been reported in association with almost every rheumatic disease, but it is by far most common in systemic juvenile idiopathic arthritis (SJIA). Clinically, MAS is similar to familial or primary hemophagocytic lymphohistiocytosis (pHLH), a group of rare autosomal recessive disorders linked to various genetic defects all affecting the perforin-mediated cytolytic pathway employed by NK cells and cytotoxic CD8 T lymphocytes. Decreased cytolytic activity in pHLH patients leads to prolonged survival of target cells associated with increased production of proinflammatory cytokines that overstimulate macrophages. The resulting cytokine storm is believed to be responsible for the frequently fatal multiorgan system failure seen in MAS. Whole exome sequencing as well as targeted sequencing of pHLH-associated genes in patients with SJIA-associated MAS demonstrated increased \"burden\" of rare protein-altering variants affecting the cytolytic pathway compared to healthy controls, suggesting that as in pHLH, genetic variability in the cytolytic pathway contributes to MAS predisposition. Functional studies of some of the novel variants have shown that even in a heterozygous state, their presence partially reduces cytolytic activity that may lead to increased cytokine production.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141905466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}