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North Carolina Macular Dystrophy. 北卡罗来纳黄斑营养不良。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_21
Amber Diaz, Kristina J Hartung, Kent Small
{"title":"North Carolina Macular Dystrophy.","authors":"Amber Diaz, Kristina J Hartung, Kent Small","doi":"10.1007/978-3-031-72230-1_21","DOIUrl":"10.1007/978-3-031-72230-1_21","url":null,"abstract":"<p><p>North Carolina Macular Dystrophy (NCMD) is an autosomal dominant, congenital, completely penetrant non-progressive macular malformation. The NCMD phenotype is highly variable even within the same family (Fig. 21.1). Grade 1 individuals have few drusen centrally while grade 2 can appear with confluent drusen to central vitelliform lesions. Grade 3 appears as dramatic choroidal excavations and coloboma like lesions (Small 1989; Small et al. 1991, 2022a). There can be some vision decline secondary to the development of choroidal neovascular membranes (CNVMs) (Bakall et al. 2018). Patients who develop CNVMs are the subjects who experience progressive moderate to severe vision impairment, typically confined to one eye. In grade 3 lesions, the CNVMs and resulting fibrosis typically occur along the temporal edge of the \"coloboma\" and do not affect the visual acuity. Peripheral drusen are variably reported.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1467 ","pages":"115-117"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740869","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 Genetic Basis of IRDS and the Role of Genetic Testing. IRDS的遗传基础及基因检测的作用。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_58
Gareth D Mercer, Brian G Ballios, Peter J Kertes
{"title":"The Genetic Basis of IRDS and the Role of Genetic Testing.","authors":"Gareth D Mercer, Brian G Ballios, Peter J Kertes","doi":"10.1007/978-3-031-72230-1_58","DOIUrl":"10.1007/978-3-031-72230-1_58","url":null,"abstract":"<p><p>Most of the major clinical IRD) phenotypes are monogenic conditions and demonstrate classic Mendelian inheritance patterns. More than 300 genes have been implicated in IRDs, many of which are involved in phototransduction, the retinoid cycle, photoreceptor cell structure, structure and function of the connecting cilium, transcription factors, and RNA splicing (Fig. 58.1; Hamel 2014; Dias et al. 2018). Studies involving relatively large patient cohorts have documented 4798 discrete variants in 194 genes (Schneider et al. 2022). The majority of variants either alter one or more amino acid in sequence (missense mutations) or prematurely truncate proteins (nonsense mutations). Smaller percentages of mutations affect RNA splicing, start and stop codons, or control regions (Schneider et al. 2022).</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1467 ","pages":"319-322"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740884","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
X-Linked Juvenile Retinoschisis. x连锁少年视网膜裂。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-72230-1_10
Leticia Pinheiro, Stephen H Tsang, Tarun Sharma
{"title":"X-Linked Juvenile Retinoschisis.","authors":"Leticia Pinheiro, Stephen H Tsang, Tarun Sharma","doi":"10.1007/978-3-031-72230-1_10","DOIUrl":"10.1007/978-3-031-72230-1_10","url":null,"abstract":"<p><p>X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated to be 1 in 5000-25,000 men, worldwide. XLRS has complete penetrance but variable expressivity. Carrier females generally remain asymptomatic.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1467 ","pages":"51-56"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740888","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
Prediction of Circular RNA Secondary Structures and Their Targets. 环状RNA二级结构及其靶标的预测。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-981-96-9428-0_5
Stephan H Bernhart, Jörg Fallmann, Ronny Lorenz, Peter F Stadler
{"title":"Prediction of Circular RNA Secondary Structures and Their Targets.","authors":"Stephan H Bernhart, Jörg Fallmann, Ronny Lorenz, Peter F Stadler","doi":"10.1007/978-981-96-9428-0_5","DOIUrl":"https://doi.org/10.1007/978-981-96-9428-0_5","url":null,"abstract":"<p><p>At the level of secondary structure, circular RNAs (circRNAs) can be understood in terms of base pairing, base-pair stacking, and entropic loop contribution in the same way as linear RNAs and intermolecular RNA-RNA interactions. The folding problem of circular RNAs can thus be solved by dynamic programming algorithms in essentially the same manner. In this chapter, we review the similarities and differences between circular and linear RNAs with a focus on the software tools provided by the ViennaRNA package. Comparative analysis of RNA structures can also be generalized to circular RNA molecules. However, the task of constructing pairwise and multiple alignments of circular sequences is more difficult than those of their linear counterpart, whence fewer and less convenient software solutions are available. This chapter has also touched upon recent developments such as applications of chemical probing to circular RNAs and prediction of secondary structures on the interaction of circular RNAs with other molecules.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1485 ","pages":"59-74"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938498","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
Diaphragm Function in Health and Disease. 健康和疾病中的隔膜功能。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-88361-3_25
Scott K Powers
{"title":"Diaphragm Function in Health and Disease.","authors":"Scott K Powers","doi":"10.1007/978-3-031-88361-3_25","DOIUrl":"https://doi.org/10.1007/978-3-031-88361-3_25","url":null,"abstract":"<p><p>The diaphragm is the thin dome-shaped muscle that separates the thoracic cavity from the abdominal contents. Functionally, the diaphragm is the principal inspiratory muscle in humans and other mammals, and importantly, a healthy diaphragm is essential to achieve adequate pulmonary ventilation and gas exchange across the blood/gas interface. In addition to pulmonary gas exchange, the diaphragm also contributes to important non-breathing functions such coughing and sneezing. Compared to locomotor muscles, the diaphragm is anatomically unique and is the only skeletal muscle that is chronically active. This chapter provides a summary of diaphragm structure and function and examines the plasticity of diaphragm muscle fibers in response to both increased and decreased contractile activity. The impact of aging and chronic diseases on diaphragmatic function is also considered. The chapter concludes with a detailed discussion of the important clinical problem of ventilator-induced diaphragm dysfunction.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1478 ","pages":"615-630"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938552","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
Circular RNAs as Biomarkers in the Diagnosis of Human Diseases. 环状rna作为生物标志物在人类疾病诊断中的应用。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-981-96-9428-0_14
Selçuk Özdemir
{"title":"Circular RNAs as Biomarkers in the Diagnosis of Human Diseases.","authors":"Selçuk Özdemir","doi":"10.1007/978-981-96-9428-0_14","DOIUrl":"https://doi.org/10.1007/978-981-96-9428-0_14","url":null,"abstract":"<p><p>Circular RNAs (circRNAs) are a class of noncoding RNAs (ncRNAs), which has the formation of reverse splicing of mRNAs. Interest in their regulatory function has recently been increasing. The most important features are its stability between species, its high abundance, and its evolutionary conservation. As a cellular function, circular RNAs are involved in transcriptional modulation and splicing from miRNA and protein sponges. In addition, they are differentially expressed in pathological conditions occurring in diseases, creating their potential as biomarkers. Resistance to RNases makes circular RNAs a less invasive biomarker. Studies on human tumors and other diseases have confirmed the regulatory role and expression profiles of circular RNAs in disease progenesis. This article discusses in detail the properties, functions, and mechanisms of action of circRNAs in human diseases. We also discuss the possibility of using circRNAs as potential therapeutic targets and biomarkers for human diseases.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1485 ","pages":"211-226"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938710","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
Of Tingible Bodies and Starry Skies: Control of Normal and Malignant Tissues Through Apoptotic Cell-Dependent Communication (ACDC). 可感知体和星空：通过凋亡细胞依赖通讯（ACDC）控制正常和恶性组织。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-92785-0_6
Stephen J Jenkins, Christopher D Gregory
{"title":"Of Tingible Bodies and Starry Skies: Control of Normal and Malignant Tissues Through Apoptotic Cell-Dependent Communication (ACDC).","authors":"Stephen J Jenkins, Christopher D Gregory","doi":"10.1007/978-3-031-92785-0_6","DOIUrl":"https://doi.org/10.1007/978-3-031-92785-0_6","url":null,"abstract":"<p><p>Apoptosis, the original regulated cell death programme, is an established controller of cell populations in all tissues. The hub of the apoptosis machinery, the caspase cascade, mediates the cleavage of hundreds of protein substrates to ultimately effect disabling and dismantling of cells, deleting them in a cell-autonomous fashion that is well understood. Of lesser renown are the intercellular communicative properties of apoptotic cells which, as burgeoning evidence indicates, compound the signalling processes that culminate in the famously speedy, and most commonly non-phlogistic, phagocytic clearance of dying/dead cells and their fragments (efferocytosis) by macrophages and other efferocytes. Here, we discuss more broadly the curious variety of instructive intercellular signals that apoptotic cells can deploy in order to reprogramme their living neighbours, be they close or distant, efferocytes or not. We review the literature, and we consider conceptually the potential of such non-cell-autonomous, apoptotic cell-dependent communication (ACDC) mechanisms to profoundly impact cell populations in health and disease. We illustrate our discourse firstly with the biology of lymphoid germinal centres (GC) and their constituent efferocytic, 'tingible body' macrophages, and secondly with the pathology of malignancies in which counterpart efferocytic, 'starry sky' macrophages feature prominently. In conclusion, we suggest several key avenues in ACDC research.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1481 ","pages":"153-206"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147360","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
Apoptosis and Cell Clearance in Skin Wound Healing. 细胞凋亡和细胞清除在皮肤创面愈合中的作用。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-92785-0_5
Hannah K L De Cleene, Burcu N Keçeli, Sophia Maschalidi
{"title":"Apoptosis and Cell Clearance in Skin Wound Healing.","authors":"Hannah K L De Cleene, Burcu N Keçeli, Sophia Maschalidi","doi":"10.1007/978-3-031-92785-0_5","DOIUrl":"https://doi.org/10.1007/978-3-031-92785-0_5","url":null,"abstract":"<p><p>The skin is our body's largest natural barrier, and daily, it undergoes numerous challenges, such as physical injury, chemical insults, and UV radiation. The significance of repairing breaches of this barrier as quickly as possible is especially highlighted in chronic nonhealing wounds, including those associated with diabetes, which affects one in ten people worldwide, with vascular disease and aging. Dying cells in the wound perpetuate inflammation, contribute to dysregulated tissue repair, and increase the risk of infection. Cutaneous wound healing typically consists of four phases, which are hemostasis, inflammation, growth, re-epithelialization, and remodeling. In this chapter, we will discuss how various cell types, immune and nonimmune cells that reside in the epidermis and dermis, die from apoptosis and how efficient dead cell clearance by professional and nonprofessional phagocytes contributes to effective skin wound healing. We will also consider a range of cell death modalities, such as ferroptosis, necroptosis, pyroptosis, and others, and present our current knowledge about their contribution to skin injury and repair.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1481 ","pages":"121-151"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147389","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
Molecular Cell Biology of Apoptosis in Health and Disease. 细胞凋亡在健康和疾病中的分子细胞生物学。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/978-3-031-92785-0_1
Asma Ahmed, Stephen W G Tait
{"title":"Molecular Cell Biology of Apoptosis in Health and Disease.","authors":"Asma Ahmed, Stephen W G Tait","doi":"10.1007/978-3-031-92785-0_1","DOIUrl":"https://doi.org/10.1007/978-3-031-92785-0_1","url":null,"abstract":"<p><p>Apoptotic cell death is fundamental to the life of multicellular organisms, making central contributions to processes ranging from embryonic development to tissue homeostasis. Two distinct apoptosis pathways have been defined: extrinsic apoptosis and mitochondrial apoptosis. As we discuss, apoptosis is an evolutionary conserved process that is, unsurprisingly, tightly regulated. Inhibition of apoptosis can promote cancer, whereas inappropriate apoptosis has been associated with various neurodegenerative diseases. At its core, apoptosis is initiated and executed by proteases called caspases that, once activated, rapidly dismantle dying cells, ensuring that apoptosis is immunologically silent. In this chapter, we discuss the molecular mechanisms of apoptosis and its evolutionary conservation. Secondly, we highlight the emerging concept that apoptosis signalling can be engaged at non-lethal levels with diverse biological effects. Finally, we provide an overview of how apoptosis can impact health and disease, discussing ways in which apoptosis can be therapeutically targeted.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1481 ","pages":"1-28"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147397","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
Amniotic Membrane Transplantation: Clinical Applications in Enhancing Wound Healing and Tissue Regeneration. 羊膜移植：加强伤口愈合和组织再生的临床应用》。
4区 医学
Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI: 10.1007/5584_2024_834
Mutali Musa, Ekele Chukwuyem, Ehimare Enaholo, Ifeoma Esekea, Eghosasere Iyamu, Fabiana D'Esposito, Daniele Tognetto, Caterina Gagliano, Marco Zeppieri
{"title":"Amniotic Membrane Transplantation: Clinical Applications in Enhancing Wound Healing and Tissue Regeneration.","authors":"Mutali Musa, Ekele Chukwuyem, Ehimare Enaholo, Ifeoma Esekea, Eghosasere Iyamu, Fabiana D'Esposito, Daniele Tognetto, Caterina Gagliano, Marco Zeppieri","doi":"10.1007/5584_2024_834","DOIUrl":"10.1007/5584_2024_834","url":null,"abstract":"<p><p>Chronic wounds and non-healing tissue defects pose significant clinical challenges, necessitating innovative therapeutic approaches. A comprehensive literature review of amniotic membrane transplantation for wound healing and tissue repair evaluates the efficacy and safety of amniotic membrane transplantation in enhancing wound healing and tissue repair. Amniotic membranes promote wound closure and reduce inflammation and scarring via abundant growth factors, cytokines, and extracellular matrix components, which foster conducive environments for tissue regeneration. Amniotic membrane transplantation is effective in various medical disciplines, including ophthalmology, dermatology, and orthopedics. Low immunogenicity and anti-microbial properties ensure their safe application. Amniotic membrane transplantation offers a promising therapeutic approach for wound healing and tissue repair, and further research is warranted to explore its regenerative potential fully.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":" ","pages":"39-58"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602567","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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