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29 pages, 879 KB  
Article
Beyond Binary Responsibility: A Framework for Biological Justice in the Epigenetic Era
by Pragya Mishra, Colleen M. Berryessa and Fiona A. Hagenbeek
Soc. Sci. 2026, 15(6), 399; https://doi.org/10.3390/socsci15060399 (registering DOI) - 19 Jun 2026
Viewed by 70
Abstract
Behavioral epigenetics links experiences of adversity, stress, and care to molecular variation associated with health and behavior and can reshape understandings of embodiment across the life course. As such findings enter legal and policy debates, they raise pressing questions about how judges assess [...] Read more.
Behavioral epigenetics links experiences of adversity, stress, and care to molecular variation associated with health and behavior and can reshape understandings of embodiment across the life course. As such findings enter legal and policy debates, they raise pressing questions about how judges assess responsibility, weigh extralegal factors in sentencing, and govern the use of emerging scientific evidence. This article develops a framework of biological justice to guide the translation of epigenetic evidence into judicial decision-making without reintroducing biological determinism or naturalizing structural inequality. Integrating insights from epigenetics, sociology of science, bioethics, and criminal law, we clarify the inferential limits of current research and examine risks of biologizing inequality, predictive governance, and eugenic logics. We argue that epigenetic evidence should be restricted to contextual, defendant-protective, and rehabilitation-oriented uses in sentencing and post-conviction proceedings, while predictive and coercive applications should be explicitly excluded. Overall, this framework emphasizes structural framing, community oversight, and equity to prevent molecular accounts of adversity from reinforcing existing hierarchies. Full article
13 pages, 248 KB  
Article
Beyond the Future: Protentional Friction and Suspended Sense in the Lived Time of Illness
by Donald A. Landes and Kathleen Hulley
Philosophies 2026, 11(2), 62; https://doi.org/10.3390/philosophies11020062 - 16 Apr 2026
Viewed by 570
Abstract
From hours spent in waiting rooms amidst uncertainty to the experience of recovering from medical treatments, the lived time of illness is marked by intervals of suspended sense. By disorienting our relation to the future, illness disrupts and reconfigures lived time from within, [...] Read more.
From hours spent in waiting rooms amidst uncertainty to the experience of recovering from medical treatments, the lived time of illness is marked by intervals of suspended sense. By disorienting our relation to the future, illness disrupts and reconfigures lived time from within, shaping how we navigate our intersubjective milieu and make sense of our unfolding lives. In this paper, we introduce the phenomenological concept of “protentional friction” as a way of understanding these experiences. Drawing upon Simone de Beauvoir’s work on subjectivity and becoming, alongside Henri Bergson’s and Eugène Minkowski’s emphasis on durée and élan, we demonstrate how protentional friction allows us to negotiate the tensions of our situation, orient ourselves toward the future through projects, and gear into the ongoing work of sense-making. As a counterbalance to normalizing cultural discourses surrounding illness, we reinterpret the idea of the “quotidian” as the everyday practice of sense-making to find and sustain an equilibrium. Full article
(This article belongs to the Special Issue Critical Phenomenologies of Illness and Normality)
16 pages, 318 KB  
Article
Writing the History of Buddhism in the French Translation of Fo Guo Ji: The Paratexts
by Yue Wu and Wenqing Peng
Religions 2026, 17(2), 188; https://doi.org/10.3390/rel17020188 - 3 Feb 2026
Viewed by 698
Abstract
This article focuses on the French translation of Fo Guo Ji (佛国记), entitled Foě-kouě-ki, ou Relation des royaumes bouddhiques, co-translated by four scholars, Jean-Pierre Abel-Rémusat, Julius Klaproth, Ernest Clerc de Landresse, and Eugène Burnouf. This study examines how the translators interpreted Buddhist [...] Read more.
This article focuses on the French translation of Fo Guo Ji (佛国记), entitled Foě-kouě-ki, ou Relation des royaumes bouddhiques, co-translated by four scholars, Jean-Pierre Abel-Rémusat, Julius Klaproth, Ernest Clerc de Landresse, and Eugène Burnouf. This study examines how the translators interpreted Buddhist doctrines and history by analyzing the translation’s paratexts, including an extensive introduction, detailed in-text annotations as well as the translators’ related studies of Buddhism and other fields. As renowned Sinologists whose expertise spanned religion, linguistics, geography, and other fields, the translators infused their interpretive work with multifaceted academic perspectives. These paratexts collectively serve as pivotal sources for understanding how the French translation constructed and interpreted Buddhist history. The study finds that Abel-Rémusat profoundly elaborated on the core of Buddhist doctrines, dispelling the prevalent mystification of Buddhism in European academia and uncovering its inherent rational logic. All four translators, endowed with profound philological and linguistic expertise, analyzed Buddhist history through a distinctive approach. Moreover, Abel-Rémusat and his successors focused more on the history of Buddhist transmission across regions and languages, positioning Buddhist history as well as Asian studies into the framework of world history. Full article
21 pages, 283 KB  
Article
“Adults See Everything as Dangerous Except Themselves”: A Critical Discourse Analysis of Safety, Policing, and Protection in Schools
by Shareen Rawlings Springer
Youth 2026, 6(1), 14; https://doi.org/10.3390/youth6010014 - 30 Jan 2026
Viewed by 1273
Abstract
This article explores how ideologies and discourses of school safety and policing operate within the U.S. educational system and shape broader understandings of safety, punishment, and mass incarceration. Guided by corpus-assisted discourse studies (CADS) and Critical Discourse Analysis (CDA), it examines three questions: [...] Read more.
This article explores how ideologies and discourses of school safety and policing operate within the U.S. educational system and shape broader understandings of safety, punishment, and mass incarceration. Guided by corpus-assisted discourse studies (CADS) and Critical Discourse Analysis (CDA), it examines three questions: how different educational community members define safety (and for whom), how policing is constructed as safe or unsafe, and how these narratives position certain students as threats. Analyzing school board meetings, online public comments, and conversations with students within the context of a 2020 local decision to remove School Resource Officers from Eugene, Oregon, public schools, the study identifies common and contested discursive strategies about policing and youth across social and historical contexts. A central finding is the role of adultism in sustaining links between schools and prisons, normalizing compliance, silence, and the disappearance of youth who challenge adult authority. These adultist discourses position students as belonging to adults and construct dissent as danger, enabling surveillance, policing, and incarceration to circulate as commonsense approaches to “community safety.” From these findings, the article introduces YouthCrit as an emergent conceptual framework grounded in youth analyses of adultism. In turn, YouthCrit offers a framework for scholars, educators, and practitioners to challenge deficit narratives about students while centering youth presence and perspectives in school-based research and within social movements for community safety. Full article
17 pages, 1331 KB  
Article
Peel and Leaf Volatile Profiles of the New Citrus Hybrid ‘Eugene’ and Parent Species
by Elli Katsouli, Evgenia Panou, Vasileios Ziogas, Evgenia Ntamposi, Konstantia Graikou and Ioanna Chinou
Horticulturae 2025, 11(12), 1531; https://doi.org/10.3390/horticulturae11121531 - 17 Dec 2025
Viewed by 880
Abstract
In the present study, the essential oils (EOs) of peels and leaves from the new limonime lime, ‘Eugene’ hybrid, were analyzed for the first time and compared with those of its parental plants, Citrus latifolia var. latifolia (Persian lime) and Citrus × limon [...] Read more.
In the present study, the essential oils (EOs) of peels and leaves from the new limonime lime, ‘Eugene’ hybrid, were analyzed for the first time and compared with those of its parental plants, Citrus latifolia var. latifolia (Persian lime) and Citrus × limon cv. Zambetakis (lemon). This hybrid represents the first successful cross between these two species, exhibiting distinctive features such as aroma and shape. GC-MS analysis identified a total of 30 and 44 metabolites in the hybrid’s peel and leaf EOs, respectively. Limonene was the predominant volatile in both peels and leaves across all genotypes. In the peel EOs, the monoterpenes γ-terpinene, β-pinene, and geranial were among the most abundant compounds. In contrast, the leaf EOs showed differences between genotypes: the hybrid and Persian lime had similar volatile profiles dominated by geranial, neral, and neryl acetate, while β-pinene was only detected in lemon. Additionally, the total phenolic content and DPPH radical scavenging activity of the methanolic extracts of peels and leaves were evaluated, and revealed that lemon extracts were richer in phenolic compounds and with higher antioxidant activity compared to those of hybrid and Persian lime. Overall, the development of improved Greek varieties like the ‘Eugene’ hybrid holds significant potential to enrich the genetic diversity of Greek Citrus germplasm and broaden the commercial portfolio of citrus fruits with unique and desirable traits. Full article
(This article belongs to the Special Issue Postharvest Physiology and Quality Improvement of Fruit Crops)
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24 pages, 9003 KB  
Article
The Interior Restoration of Notre-Dame de Paris (1845–1869): A Historical Study for an Architectural and Acoustic Reconstruction
by Hanna Borne, Elsa Ricaud, Maxime Descamps and Germain Morisseau
Heritage 2025, 8(12), 525; https://doi.org/10.3390/heritage8120525 - 12 Dec 2025
Viewed by 2218
Abstract
The PHEND (Past Has Ears at Notre-Dame) collaborative research project is being carried out by a team of multidisciplinary researchers interested in the acoustic history of Notre-Dame Cathedral in Paris. The project involved the creation of seven digital models representing the interior of [...] Read more.
The PHEND (Past Has Ears at Notre-Dame) collaborative research project is being carried out by a team of multidisciplinary researchers interested in the acoustic history of Notre-Dame Cathedral in Paris. The project involved the creation of seven digital models representing the interior of the monument between 1182 and 2018. To support one of the virtual reconstructions, that of 1868, a technical report was drawn up based on the written and iconographic archives of the restorations carried out between 1845 and 1870 by the architects Eugène Viollet-le-Duc (1814–1879) and Jean-Baptiste-Antoine Lassus (1807–1857). The archives come mainly from the “Fonds Viollet-le-Duc”, from the work diary of the “Médiathèque du patrimoine et de la photographie” (MPP), and from the archives of the Notre-Dame chapter. In order to select the most relevant data for the digital reconstruction, the research addresses specific questions regarding the cathedral’s materiality, such as structural modifications, restorations, and the choice of materials and furnishings. To understand how the interior of the cathedral was transformed in the 19th century, a detailed inventory of its condition was compiled at two points in time: at the beginning of the restoration in 1848 and following its completion in 1868. In parallel with this work, to provide a graphic representation of the changes that had occurred in each area, comparative illustrations were produced showing the situation before and after restoration. The modifications were then detailed by area: general restoration (vaults, openings, paving), and redevelopment of the choir and the main body of the building (chapels, transept, nave). This research revealed the building’s profound structural changes and the fact that the renovations spared no space. These included mainly modifications to the high windows, a complete redesign of the decorative layout of the choir and chapels, the restoration of all the vaults and paving at different levels, and a complete restoration of the organ. Full article
(This article belongs to the Special Issue The Past Has Ears: Archaeoacoustics and Acoustic Heritage)
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22 pages, 377 KB  
Article
The Reality of the Invisible: The Phenomenology of Invisibility in H. Conrad-Martius’s Metaphysical Realism
by Ronny Miron
Religions 2025, 16(10), 1240; https://doi.org/10.3390/rel16101240 - 28 Sep 2025
Viewed by 1452
Abstract
This article aims to establish the theoretical foundations for a phenomenology of the invisible, conceived as an ontologically primary dimension of reality. It draws on the work of the realist phenomenologist Hedwig Conrad-Martius (1888–1966) and situates the discussion within the methodological framework of [...] Read more.
This article aims to establish the theoretical foundations for a phenomenology of the invisible, conceived as an ontologically primary dimension of reality. It draws on the work of the realist phenomenologist Hedwig Conrad-Martius (1888–1966) and situates the discussion within the methodological framework of Husserl’s phenomenology—as developed by members of the Munich–Göttingen Circle, of which Conrad-Martius was one of the leading figures, and which employed the methods of Ideation and epoché. This study elaborates three ontological structures, Nothingness, Selfness (ichhaftes Sein), and Transcendence, proposed here as anchor points for addressing the phenomenon of invisibility. Through this, it seeks to extend the phenomenological notion of givenness from what appears to that which resists appearance. Given that Conrad-Martius herself does not explicitly link these structures—as developed in her thought—to invisibility, nor does her writing offer a systematic conceptual development or detailed examination of their broader implications, the author—taking inspiration from Eugen Fink’s notion of “philosophizing-along-with” (Mit-Philosophieren) as a means to achieve a methodological and “theoretical stance”—frames a thematic exploration of invisibility in relation to these structures. The article thus proposes an ontologically grounded phenomenological framework for understanding the invisible as an integral dimension of the totality of reality: the primordial ground preceding all existence (Nothingness), the structural condition of human reality (Selfness), and that which lies beyond both human finitude and existence as such (Transcendence). In doing so, it seeks to contribute to contemporary phenomenological discourse by articulating the invisible as a fundamental mode of Being. Full article
(This article belongs to the Special Issue Experience and Non-Objects: The Limits of Intuition)
14 pages, 770 KB  
Article
The Juke Sisters?
by Delwyn Blondell
Genealogy 2025, 9(3), 64; https://doi.org/10.3390/genealogy9030064 - 20 Jun 2025
Cited by 1 | Viewed by 5013
Abstract
The Jukes: A study in crime, pauperism, disease, and heredity became one of the most well-known eugenic family studies. The study was first published in 1877, based on the research of R.L. Dugdale, and then reexamined by Arthur Estabrook with the support of [...] Read more.
The Jukes: A study in crime, pauperism, disease, and heredity became one of the most well-known eugenic family studies. The study was first published in 1877, based on the research of R.L. Dugdale, and then reexamined by Arthur Estabrook with the support of the Eugenics Record Office in 1916. Taken together, the Juke family studies were used as evidence that generations of moral degenerates and criminals emerged when the ‘feeble-minded’ were allowed to ‘propagate’. This article reviews the story of the Jukes, including their true identities, and concludes that Dugdale did not adequately investigate the parents of the Juke sisters. Instead, he concocted a ‘family’ that lived in a location where relationships were complex. The research that followed only compounded these errors, as the political agenda of eugenics overrode scientific knowledge and ignored the poor quality of the original data. Full article
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19 pages, 5194 KB  
Article
Structural, Electronic, and Nonlinear Optical Characteristics of Europium-Doped Germanium Anion Nanocluster EuGen (n = 7–20): A Theoretical Investigation
by Chenliang Hao, Xueyan Dong, Chunli Li, Caixia Dong, Zhaofeng Yang and Jucai Yang
Molecules 2025, 30(6), 1377; https://doi.org/10.3390/molecules30061377 - 19 Mar 2025
Cited by 5 | Viewed by 1573
Abstract
Doping rare-earth metals into semiconductor germanium clusters can significantly enhance the stability of these clusters while introducing novel and noteworthy optical properties. Herein, a series of EuGen (n = 7–20) clusters and their structural and nonlinear optical properties are investigated [...] Read more.
Doping rare-earth metals into semiconductor germanium clusters can significantly enhance the stability of these clusters while introducing novel and noteworthy optical properties. Herein, a series of EuGen (n = 7–20) clusters and their structural and nonlinear optical properties are investigated via the ABCluster global search technique combined with the double-hybrid density functional theory mPW2PLYP. The structure growth pattern can be divided into two stages: an adsorption structure and a linked structure (when n = 7–10 and n = 11–20, respectively). In addition to simulating the photoelectron spectra of the clusters, their various properties, including their (hyper)polarizability, magnetism, charge transfer, relative stability, and energy gap, are identified. According to our examination, the EuGe13 cluster exhibits a significant nonlinear optical response of the βtot value of 7.47 × 105 a.u., and is thus considered a promising candidate for outstanding nonlinear optical semiconductor nanomaterials. Full article
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14 pages, 264 KB  
Opinion
The Reasonable Ineffectiveness of Mathematics in the Biological Sciences
by Seymour Garte, Perry Marshall and Stuart Kauffman
Entropy 2025, 27(3), 280; https://doi.org/10.3390/e27030280 - 7 Mar 2025
Cited by 6 | Viewed by 8220
Abstract
The known laws of nature in the physical sciences are well expressed in the language of mathematics, a fact that caused Eugene Wigner to wonder at the “unreasonable effectiveness” of mathematical concepts to explain physical phenomena. The biological sciences, in contrast, have resisted [...] Read more.
The known laws of nature in the physical sciences are well expressed in the language of mathematics, a fact that caused Eugene Wigner to wonder at the “unreasonable effectiveness” of mathematical concepts to explain physical phenomena. The biological sciences, in contrast, have resisted the formulation of precise mathematical laws that model the complexity of the living world. The limits of mathematics in biology are discussed as stemming from the impossibility of constructing a deterministic “Laplacian” model and the failure of set theory to capture the creative nature of evolutionary processes in the biosphere. Indeed, biology transcends the limits of computation. This leads to a necessity of finding new formalisms to describe biological reality, with or without strictly mathematical approaches. In the former case, mathematical expressions that do not demand numerical equivalence (equations) provide useful information without exact predictions. Examples of approximations without equal signs are given. The ineffectiveness of mathematics in biology is an invitation to expand the limits of science and to see that the creativity of nature transcends mathematical formalism. Full article
(This article belongs to the Section Entropy and Biology)
15 pages, 208 KB  
Article
Towards a Better Denialism
by Helen Paynter
Religions 2025, 16(2), 135; https://doi.org/10.3390/rel16020135 - 24 Jan 2025
Viewed by 2214
Abstract
This article uses two case studies to promote the idea that British evangelicalism is sometimes marked by the denial of inconvenient facts. First, it takes a critical look at the apologetic impulse to explain away the problems that Scripture sometimes presents and to [...] Read more.
This article uses two case studies to promote the idea that British evangelicalism is sometimes marked by the denial of inconvenient facts. First, it takes a critical look at the apologetic impulse to explain away the problems that Scripture sometimes presents and to deny their affective dimensions. Second, it considers some of the abuse scandals of recent years and the way in which the evangelical church has tended to respond by covering them up and silencing the voices of accusers. This response appears to be motivated by the fear of quenching what appear to be successful ministries or of tarnishing the reputation of the church. The common theme that these examples share is that they are motivated by the instinct to present the gospel in the best possible light, but this appears to stem from an unarticulated functional atheism that does not truly trust God’s people to the Spirit. As a remedy, two linked practices are proposed, drawing on the work of Eugene Peterson and Cheryl Bridges-Johns. These are Sabbath-keeping as a means of rediscovering the primacy of God’s presence and work; and the re-enchantment of Scripture by means of a Pentecost imaginary, which offers the possibility for the transrational. Full article
(This article belongs to the Special Issue Disclosing God in Action: Contemporary British Evangelical Practices)
14 pages, 2623 KB  
Article
Effect of Gold Nanoparticles on Luminescence Enhancement in Antibodies for TORCH Detection
by Cuimei Chen and Ping Ding
Molecules 2024, 29(23), 5722; https://doi.org/10.3390/molecules29235722 - 4 Dec 2024
Viewed by 1819
Abstract
Purposes: To explore the optimization method and application of Au-NP-enhanced luminol––H2O2 luminescence system in TORCH (TOX, RV, CMV, HSVI, and HSVII) detection. Method: 4.5 × 10−5 mmol/L gold nano solution was prepared with chloroauric acid as the reducing agent [...] Read more.
Purposes: To explore the optimization method and application of Au-NP-enhanced luminol––H2O2 luminescence system in TORCH (TOX, RV, CMV, HSVI, and HSVII) detection. Method: 4.5 × 10−5 mmol/L gold nano solution was prepared with chloroauric acid as the reducing agent and trisodium citrate as the stabilizer. After curing for 3 days, Au NPs participate in the luminal–H2O2 luminescence system to detect TORCH antibodies and establish the cut off value. SPSS 18.0 software was used to analyze the TORCH antibodies detected by the nano-gold-enhanced luminol luminescence method and TORCH kit. Additionally, its detection performance is studied. Results: The results of a paired t-test for the absorbance values of samples with and without gold nanoparticles showed that there were statistically significant differences (p < 0.001) between the two methods in the detection of TOX, RV, CMV, HSVI, and HSVII. The luminescence values with the addition of gold nanoparticles were significantly higher than those without gold nanoparticles. Using the Au NP–luminol–H2O2 chemiluminescence method, 127 serum samples were tested for TORCH antibodies. The sensitivities were 84.6%, 83.3%, 90.9%, 85.7%, and 84.6%, while the specificities were 94.7%, 96.5%, 96.6%, 97.3%, and 95.6%, respectively. The sensitivity and specificity of the chemiluminescence method enhanced by gold nanoparticles are significantly improved compared to the chemiluminescence method without enhancers. Conclusions: Au NPs participate in the luminal–H2O2 luminescent system. The absorbance, sensitivity, and specificity of TORCH antibodies show that Au NPs can enhance the luminol–H2O2 luminescent system. Au NP–luminol–H2O2 luminescence system has broad application prospects in the detection of eugenics. Full article
(This article belongs to the Section Nanochemistry)
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17 pages, 1468 KB  
Article
Looking Back When Moving Forward: Researching Sites of Former Disability Institutions
by Jack Kelly, Leigh Creighton, Phillippa Carnemolla and Linda Steele
Soc. Sci. 2024, 13(10), 546; https://doi.org/10.3390/socsci13100546 - 15 Oct 2024
Cited by 2 | Viewed by 5243
Abstract
This article discusses an inclusive research program where colleagues and co-researchers (with intellectual disability) guide and inform future research practice to ensure research is targeted to areas of significance and relevance to them. The research program is about sites of former disability institutions. [...] Read more.
This article discusses an inclusive research program where colleagues and co-researchers (with intellectual disability) guide and inform future research practice to ensure research is targeted to areas of significance and relevance to them. The research program is about sites of former disability institutions. Many people with intellectual disability in Australia were segregated and forced to live in disability institutions until deinstitutionalisation efforts became mainstream in the late 20th Century. We are a team of four people based in New South Wales, Australia. Our team includes disability advocates and researchers who have contributed to a program of research exploring connections between sites of former disability institutions and contemporary disability rights. In this article, we reflect on conversations about our research undertaken so far and where the research goes from here. We explore five pillars of action informing how research relating to disability institutions can progress: 1. Current use: research exploring erasure of experiences of institutionalisation communicated through educational resources and maps about current use of sites of former disability institutions; 2. Reparative planning processes: research developing frameworks for alternative approaches to planning and heritage processes supporting alternative uses of former sites of disability institutions; 3. Official recognition and redress: research exploring perspectives on governments formally recognising and remedying experiences of people with disability who were institutionalised; 4. Community-led repair and remembrance: research identifying practices for both celebrating advocates with disability and reckoning with and repairing familial and social bonds broken through institutionalisation; 5. Community-inclusive practices: research exploring endurance of institutional practices in disability accommodation in community settings. These five pillars are underpinned by three foundational layers: advancing disability human rights; reckoning with intersections between disability institutions and settler colonialism, other dynamics of oppression, and eugenics; and using inclusive practices. Full article
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24 pages, 305 KB  
Article
Doing Violence to Darwin: Conflicting Christian Evaluations of Darwinism and Violence
by Malcolm L. Cross
Religions 2024, 15(10), 1221; https://doi.org/10.3390/rel15101221 - 8 Oct 2024
Viewed by 4910
Abstract
At issue is the degree to which Charles Darwin’s theory of evolution by means of natural selection is to blame for violence caused by communism, Nazism, and other societal dysfunctions. Conservative Christian opponents claim Darwinism undermines Biblical authority and supports ideologies causing violence. [...] Read more.
At issue is the degree to which Charles Darwin’s theory of evolution by means of natural selection is to blame for violence caused by communism, Nazism, and other societal dysfunctions. Conservative Christian opponents claim Darwinism undermines Biblical authority and supports ideologies causing violence. Secular and Christian supporters of Darwinism argue that Darwinism has not promoted violence but has been used to provide a scientific rationale for violence that would have been caused anyway. Moreover, Christian supporters of Darwinism maintain that Darwinism is by no means incompatible with the Bible. This paper examines claims by both sides as well as the attempts by Darwinism’s Christian opponents to supplant Darwinism with theories which they hope will restore Biblical authority, including Creationism, Creation Science, and Intelligent Design theory. The paper concludes that despite the legal setbacks encountered by adherents to these alternative theories, the conflict continues. Full article
(This article belongs to the Special Issue Religions and Violence: Dialogue and Dialectic)
18 pages, 26832 KB  
Review
Storytelling of Hypertrophic Cardiomyopathy Discovery
by Gaetano Thiene, Chiara Calore, Monica De Gaspari and Cristina Basso
J. Cardiovasc. Dev. Dis. 2024, 11(10), 300; https://doi.org/10.3390/jcdd11100300 - 28 Sep 2024
Cited by 5 | Viewed by 3526
Abstract
The discovery of hypertrophic cardiomyopathy (HCM) dates back to 1958, when the pathologist Donald Teare of the St. George’s Hospital in London performed autopsies in eight cases with asymmetric hypertrophy of the ventricular septum and bizarre disorganization (disarray) at histology, first interpreted as [...] Read more.
The discovery of hypertrophic cardiomyopathy (HCM) dates back to 1958, when the pathologist Donald Teare of the St. George’s Hospital in London performed autopsies in eight cases with asymmetric hypertrophy of the ventricular septum and bizarre disorganization (disarray) at histology, first interpreted as hamartoma. Seven had died suddenly. The cardiac specimens were cut along the long axis, similar to the 2D echo. In the same year, at the National Institute of Health U.S.A., Eugene Braunwald, a hemodynamist, and Andrew Glenn Morrow, a cardiac surgeon, clinically faced a patient with an apparently similar morbid entity, with a systolic murmur and subaortic valve gradient. “Discrete” subaortic stenosis was postulated. However, at surgery, Dr. Morrow observed only hypertrophy and performed myectomy to relieve the obstruction. This first Braunwald–Morrow patient underwent a successful cardiac transplant later at the disease end stage. The same Dr. Morrow was found to be affected by the familial HCM and died suddenly in 1992. The term “functional subaortic stenosis” was used in 1959 and “idiopathic hypertrophic subaortic stenosis” in 1960. Years before, in 1957, Lord Brock, a cardiac surgeon at the Guy’s Hospital in London, during alleged aortic valve surgery in extracorporeal circulation, did not find any valvular or discrete subaortic stenoses. In 1980, John F. Goodwin of the Westminster Hospital in London, the head of an international WHO committee, put forward the first classification of heart muscle diseases, introducing the term cardiomyopathy (dilated, hypertrophic, and endomyocardial restrictive). In 1995, the WHO classification was revisited, with the addition of two new entities, namely arrhythmogenic and purely myocardial restrictive, the latter a paradox of a small heart accounting for severe congestive heart failure by ventricular diastolic impairment. A familial occurrence was noticed earlier in HCM and published by Teare and Goodwin in 1960. In 1989–1990, the same family underwent molecular genetics investigation by the Seidman team in Boston, and a missense mutation of the β-cardiac myosin heavy chain in chromosome 14 was found. Thus, 21 years elapsed from HCM gross discovery to molecular discoveries. The same original family was the source of both the gross and genetic explanations of HCM, which is now named sarcomere disease. Restrictive cardiomyopathy, characterized grossly without hypertrophy and histologically by myocardial disarray, was found to also have a sarcomeric genetic mutation, labeled “HCM without hypertrophy”. Sarcomere missense mutations have also been reported in dilated cardiomyopathy (DCM) and non-compaction cardiomyopathy. Moreover, sarcomeric gene defects have been detected in some DNA non-coding regions of HCM patients. The same mutation in the family may express different phenotypes (HCM, DCM, and RCM). Large ischemic scars have been reported by pathologists and are nowadays easily detectable in vivo by cardiac magnetic resonance with gadolinium. The ischemic arrhythmic substrate enhances the risk of sudden death. Full article
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