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Iron and Liver Disease. 铁和肝脏疾病。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-92033-2_16
Heinz Zoller
{"title":"Iron and Liver Disease.","authors":"Heinz Zoller","doi":"10.1007/978-3-031-92033-2_16","DOIUrl":"https://doi.org/10.1007/978-3-031-92033-2_16","url":null,"abstract":"<p><p>The mutual relationship between iron and liver disease is highlighted by the fact that too much iron can cause liver disease, while hepatic iron overload can also result from acute or chronic liver diseases. As the principal storage site for iron, hepatic iron concentration is a reliable surrogate marker for total body iron in iron overload conditions. Assessment of hepatic iron is therefore important for the initiation and monitoring of treatment of iron overload by therapeutic phlebotomies or iron chelators. The present chapter reviews how the liver controls iron homeostasis, and discusses how liver iron can be assessed before primary and secondary liver diseases with iron overload.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1480 ","pages":"237-252"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144551639","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}
引用次数: 0
Iron-Loading Anemias. Iron-Loading贫血。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-92033-2_11
Maayan V Levy, Yelena Z Ginzburg
{"title":"Iron-Loading Anemias.","authors":"Maayan V Levy, Yelena Z Ginzburg","doi":"10.1007/978-3-031-92033-2_11","DOIUrl":"https://doi.org/10.1007/978-3-031-92033-2_11","url":null,"abstract":"<p><p>Erythropoiesis is a process by which red blood cells (RBCs) are produced in the adult bone marrow. It involves the differentiation of erythroid progenitor cells into mature RBCs, which transport oxygen from the lungs to all cells in the body. Erythropoiesis is a complex process with a nuanced crosstalk of regulation involving hormones, cytokines, and growth factors. In recent years, multiple sources of evidence have increased our understanding of the molecular mechanisms that coordinate erythropoiesis to enable the daily production of approximately 200 billion RBCs. These advances have shed light on the pathophysiology in a variety of diseases, i.e., iron-loading anemias, and are paving the way for novel therapeutic strategies in preclinical and clinical development to treat such dyserythropoietic disorders. This chapter elucidates our current understanding of iron-loading anemias in general and specifically in β-thalassemia and myelodysplastic syndrome (MDS), describes the current cutting-edge understanding in pathophysiology, and delineates what novel therapies are currently being developed to target these disorders.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1480 ","pages":"145-161"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144551658","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}
引用次数: 0
Anemia of Inflammation. 炎症性贫血。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-92033-2_13
Lukas Lanser, Günter Weiss
{"title":"Anemia of Inflammation.","authors":"Lukas Lanser, Günter Weiss","doi":"10.1007/978-3-031-92033-2_13","DOIUrl":"https://doi.org/10.1007/978-3-031-92033-2_13","url":null,"abstract":"<p><p>Anemia of inflammation (AI), also known as anemia of chronic disease, is the most common anemia in hospitalized patients and considered to be the second most common anemia worldwide after iron deficiency anemia (IDA). The hallmark of AI is iron restriction within macrophages of the mononuclear phagocyte system (MPS) resulting in hypoferremia and hyperferritinemia together with suppression of erythropoiesis and shortened erythrocyte lifespan. Symptoms are comparable to other anemia entities and often related to the underlying disease. Patients usually present with normocytic, normochromic, hypoproliferative, mild-to-moderate anemia, reduced circulating iron levels (transferrin saturation), and increased stored iron (serum ferritin). However, AI is often associated with true iron deficiency on the basis of inflammatory diseases and blood losses of different reasons, which is why the correct identification of these patients, and their iron needs is a diagnostic challenge. Treatment of the underlying disease that causes immune activation is the primary therapeutic approach for AI which normally results in its resolution over time. Concomitant pathologies and factors contributing to the AI severity should be considered and, when feasible, specifically corrected. Iron supplementation is the first-line therapy for AI+IDA patients, while intravenously applied iron is trapped in macrophages of the MPS during advanced inflammation in patients with solely AI, whereas orally supplemented iron is not properly absorbed. Effectiveness of erythropoiesis-stimulating agents is limited in AI due to inflammation-mediated suppression of erythropoietin (Epo) signaling and impaired erythroid cell proliferation and differentiation, while red blood cell transfusion should primarily be used in life-threatening anemia. Clinical studies on hypoxia-inducible factor prolyl hydroxylase inhibitors seem promising although concerns about their safety and efficacy in AI arose within recent years. New treatment strategies aim to modify the hepcidin-ferroportin axis, yet clinical trials are still outstanding.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1480 ","pages":"179-195"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144551688","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}
引用次数: 0
The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease. PRPH2 D2环:在疾病中的生化见解和意义。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-76550-6_52
Larissa Ikelle, Muayyad R Al-Ubaidi, Muna I Naash
{"title":"The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.","authors":"Larissa Ikelle, Muayyad R Al-Ubaidi, Muna I Naash","doi":"10.1007/978-3-031-76550-6_52","DOIUrl":"10.1007/978-3-031-76550-6_52","url":null,"abstract":"<p><p>PRPH2 is a glycosylated tetraspanin protein that plays a crucial role in outer segment morphogenesis. The protein induces membrane curvature at the rim and orchestrates proper disc elaboration by forming a complex network of homo- and hetero-oligomers, primarily mediated through its EC2/D2 loop. This loop, a functionally and structurally essential domain shared by all tetraspanins, is divided into two subdomains responsible for diverse interactions. Pathological mutations in the EC2/D2 loop account for nearly 70% of all PRPH2 mutations, resulting in a spectrum of heterogenous disease phenotypes. In this chapter, we provide an overview of the structural elements of the EC2/D2 loop of PRPH2 and explore the cellular and biochemical consequences of known mutations.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1468 ","pages":"313-317"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143389637","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}
引用次数: 0
The Art of Neuroregeneration De Novo and In Situ. 新生和原位神经再生的技术。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/5584_2025_856
Eumorphia Remboutsika
{"title":"The Art of Neuroregeneration De Novo and In Situ.","authors":"Eumorphia Remboutsika","doi":"10.1007/5584_2025_856","DOIUrl":"10.1007/5584_2025_856","url":null,"abstract":"<p><p>Neuroregeneration refers to the ability of the nervous system to repair or regenerate neural components subsequently to spinal cord and traumatic brain injuries, peripheral nerve damage, and neurodegenerative diseases. Here, we discuss lead effectors of the healing process, neural stem cells, and non-invasive physical methods, for neuroregeneration de novo and in situ.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":" ","pages":"61-76"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707885","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}
引用次数: 0
Ciliopathy: Sjögren-Larsson Syndrome.
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_36
Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma
{"title":"Ciliopathy: Sjögren-Larsson Syndrome.","authors":"Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma","doi":"10.1007/978-3-031-72230-1_36","DOIUrl":"10.1007/978-3-031-72230-1_36","url":null,"abstract":"<p><p>Sjögren-Larsson syndrome is caused by a mutation in the ALDH3A2 gene, which produces fatty aldehyde dehydrogenase (FALDH). FALDH is a membrane-bound protein involved in fatty oxidation. Structural disturbance and poor metabolite clearance likely contribute to pathogenesis.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1467 ","pages":"195-196"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740841","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}
引用次数: 0
Genetic Testing for Inherited Retinal Dystrophies: Genetic Reports. 遗传性视网膜营养不良的基因检测:遗传报告。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_57
Megan E Soucy
{"title":"Genetic Testing for Inherited Retinal Dystrophies: Genetic Reports.","authors":"Megan E Soucy","doi":"10.1007/978-3-031-72230-1_57","DOIUrl":"10.1007/978-3-031-72230-1_57","url":null,"abstract":"<p><p>Genetic varaitns are classified into five different categories based on likelihood of disease. These classifications help differentiate clincial importance of variants and when a genetic variant may be treatable. Additionally genetic teting reports should use international standardized language to ensure accuracy and that the variant can be re-identified in the indivdual in the future or in a relative. This chapter describes the specifics of the nomenclature and reporting languae providers to be able to fully understand the genetic testing reports for their patients.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1467 ","pages":"313-316"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740854","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}
引用次数: 0
The Power of Drosophila in Modeling Cancer Cachexia. 果蝇在模拟癌症恶病质中的作用。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-97035-1_5
Chen Cheng, Ying Liu, Yuchen Chen, Jiaying Li, Weiqi Xu, Norbert Perrimon, Wei Song
{"title":"The Power of Drosophila in Modeling Cancer Cachexia.","authors":"Chen Cheng, Ying Liu, Yuchen Chen, Jiaying Li, Weiqi Xu, Norbert Perrimon, Wei Song","doi":"10.1007/978-3-031-97035-1_5","DOIUrl":"https://doi.org/10.1007/978-3-031-97035-1_5","url":null,"abstract":"<p><p>Late-stage cancer patients often exhibit cachexia, a wasting syndrome characterized by the loss of muscle and adipose tissues. However, the extent to which these wasting effects directly contribute to mortality remains unclear. Drosophila, a well-conserved model organism, has been instrumental in demonstrating systemic energy wasting and mortality in the context of tumors, similar to mice and humans. Research in Drosophila has elucidated the underlying mechanisms by which tumor-associated secreted proteins cause muscle atrophy and lipid loss, ultimately leading to energy wasting. Nevertheless, emerging evidence in both Drosophila and mammals challenges the notion that blocking energy loss in muscle or fat is sufficient to improve tumor-associated mortality, suggesting the existence of additional pathogenic factors in cancer cachexia. This raises two critical questions: how do tumors disrupt the physiological functions of other organs besides muscle and fat, and to what extent do these organ dysfunctions contribute to tumor-induced mortality? In this chapter, we summarize current knowledge regarding how fly tumors interact with host organs or tissues through the production of cachectic secreted proteins, and how they influence disease progression. We also discuss the power of Drosophila models in uncovering the mechanisms and principles of tumor-induced wasting and mortality and exploring therapeutic opportunities using various leading technologies.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1482 ","pages":"83-100"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758932","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}
引用次数: 0
Adolescent Alcohol and the Spectrum of Cognitive Dysfunction in Aging. 青少年酒精与老年认知功能障碍谱。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-81908-7_12
Terrence Deak, Hannah E Burzynski, Polliana T Nunes, Stephen M Day, Lisa M Savage
{"title":"Adolescent Alcohol and the Spectrum of Cognitive Dysfunction in Aging.","authors":"Terrence Deak, Hannah E Burzynski, Polliana T Nunes, Stephen M Day, Lisa M Savage","doi":"10.1007/978-3-031-81908-7_12","DOIUrl":"10.1007/978-3-031-81908-7_12","url":null,"abstract":"<p><p>Among the many changes associated with aging, inflammation in the central nervous system (CNS) and throughout the body likely contributes to the constellation of health-related maladies associated with aging. Genetics, lifestyle factors, and environmental experiences shape the trajectory of aging-associated inflammation, including the developmental timing, frequency, and intensity of alcohol consumption. This chapter posits that neuroinflammatory processes form a critical link between alcohol exposure and the trajectory of healthy aging, at least in part through direct or indirect interactions with cholinergic circuits that are crucial to cognitive integrity. In this chapter, we begin with a discussion of how inflammation changes from early development through late aging; discuss the role of inflammation and alcohol in the emergence of mild cognitive impairment (MCI); elaborate on critical findings on the contribution of alcohol-related thiamine deficiency to the loss of cholinergic function and subsequent development of Wernicke-Korsakoff syndrome (WKS); and present emerging findings at the intersection of alcohol and Alzheimer's disease and related dementias (ADRD). In doing so, our analysis points toward inflammation-mediated compromise of basal forebrain cholinergic function as a key culprit in cognitive dysfunction associated with chronic alcohol exposure, effects that may be rescuable through either pharmacological or behavioral approaches. Furthermore, our chapter reveals an interesting dichotomy in the effects of alcohol on neuropathological markers of ADRD that depend upon both biological sex and genetic vulnerability.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1473 ","pages":"257-298"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699381","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}
引用次数: 0
An Emerging Role for Gut-Brain Signaling Involving Ghrelin in Chronic Stress. 肠-脑信号在慢性应激中的新作用。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-89525-8_7
Alexis A Salcido, Neftali F Reyes, Andrea Y Macias, Serina A Batson, Dirk W Beck, Alexander Friedman, Ki A Goosens
{"title":"An Emerging Role for Gut-Brain Signaling Involving Ghrelin in Chronic Stress.","authors":"Alexis A Salcido, Neftali F Reyes, Andrea Y Macias, Serina A Batson, Dirk W Beck, Alexander Friedman, Ki A Goosens","doi":"10.1007/978-3-031-89525-8_7","DOIUrl":"10.1007/978-3-031-89525-8_7","url":null,"abstract":"<p><p>Our internal and external environments are not stable; these ever-changing contexts produce stress on bodily systems. In response, the body recruits numerous peripheral hormones to bring those systems back within a desired homeostatic range. When our environments change in extreme ways and for prolonged periods of time, a different set of hormonal stress responses are recruited. These chronic stress responses produce adaptive changes but can also drive maladaptation. This chapter begins by reviewing the peripheral hormones that are recruited as part of the acute stress response and describing their adaptive impact on brain and peripheral function. We then examine new research describing the role of ghrelin, a hormone produced by the gut, in chronic stress. We review the role of ghrelin in hunger and consider how energy deficiency, a state shared by both hunger and stress, might explain why ghrelin is elevated by both. We consider how the unique recruitment of ghrelin during chronic stress mediates responses in the brain that can help an organism respond to future stressors, but also how chronic elevation of ghrelin can produce additional adaptations that contribute to stress-sensitive psychiatric disorders. Lastly, we identify important future areas for research on the biology of ghrelin.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1477 ","pages":"205-227"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179628","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}
引用次数: 0
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