De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser–Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (β-actin) or ACTG1 (γ-actin). The resulting actinopathies cause characteristic cerebrofrontofacial and developmental traits, including progressive sensorineural deafness. Both ACTG1-related non-syndromic A20/A26 deafness and B-WS diagnoses are characterized by hypervariable penetrance in phenotype. Here, we identify a 28th patient worldwide carrying a mutated γ-actin ACTG1 allele, with mildly manifested cerebrofrontofacial B-WS traits, hypervariable penetrance of developmental traits and sensorineural hearing loss. This patient also displays brachycephaly and a complete absence of speech faculty, previously unreported for ACTG1-related B-WS or DFNA20/26 deafness, representing phenotypic expansion. The patient’s exome sequence analyses (ES) confirms a de novo ACTG1 variant previously unlinked to the pathology. Additional microarray analysis uncover no further mutational basis for dual molecular diagnosis in our patient. We conclude that γ-actin c.542C > T, p.Ala181Val is a dominant pathogenic variant, associated with mildly manifested facial and cerebral traits typical of B-WS, hypervariable penetrance of developmental traits and sensorineural deafness. We further posit and present argument and evidence suggesting ACTG1-related non-syndromic DFNA20/A26 deafness is a manifestation of undiagnosed ACTG1-related B-WS.

Naturalistic Moral Realism and Evolutionary Biology

Perhaps the most familiar understanding of “naturalism” derives from Quine, understanding it as a continuity of empirical theories of the world as described through the scientific method. So, it might be surprising that one of the most important naturalistic moral realists, Philippa Foot, rejects standard evolutionary biology in her justly lauded Natural Goodness. One of her main reasons for this is the true claim that humans can flourish (eudaimonia) without reproducing, which she claims cannot be squared with evolutionary theory and biology more generally. The present argument concludes that Foot was wrong to reject evolutionary theory as the empirical foundation of naturalized eudaimonist moral realism. This is based on contemporary discussion of biological functions and evolutionary fitness, from which a definition of “eudaimonia” is constructed. This gives eudaimonist moral realism an empirically respectable foundation.

“And it rushed in”: A new proposal for interpreting GJudas 57,24

The present argument proposes a new interpretation for GJudas 57,24, a famously difficult passage in which someone enters a luminous cloud. While scholarship is divided over whether the phrase ⲁϥϥⲱⲕ applies to Judas or Jesus, there is a previously overlooked third option that is syntactically close to hand: it is Judas’s star. This translation, further, fits with important themes in the Gospel of Judas, both theological and narratological.

Aphrahat and Pauline Reception: 1 Corinthians 7 and Baptismal Reasoning in East and West

In studies of Pauline reception, most scholars limit themselves to works in the second or early third century (often ending with Irenaeus or the Acts of Paul) and to material from the Latin West and Greek East. Although later Syriac sources are rarely engaged, those who do work on this material have long recognised the importance of Paul's letters for that material. The present argument aims to help broaden the dominant discourse on Pauline reception by attending to early Syriac sources, principally the work of Aphrahat the Persian Sage. I focus in particular on his discussion of baptism and marriage in Dem. 7.18–20, which has confounded scholars over the years. This passage displays a kind of Pauline ‘logic’ indebted to 1 Cor 7.20, which can be discerned among other early Christian applications of that passage in similar contexts, in both East and West.

Rhetorical strategies in L2 writing: An exploration of Hedging and Boosting Strategies in Applied Linguistics research articles

Academic writing has been established as a persuasive endeavor which involves various interactional strategies including hedging and boosting. Nevertheless, there exists variation of hedging and boosting preferences across cultures. The purpose of this study is to explore the use of hedges and boosters, as interactional metadiscourse (MD) strategies, in Yemeni L2 academic writing. Using Hyland (2005), the study was conducted on a text of 34 applied linguistics research articles (RAs) produced by L2 writers. Based on Hyland’s model, a textual software tool was employed to search the instances of hedges and boosters in the corpus. The findings demonstrate that interactional MD strategies were utilized in relatively small proportions. Contrary to the assumption in the literature, hedges were used more than booster especially in the conclusion section of RAs. However, the findings suggest that Yemeni L2 writers tend to present argument like an established fact i.e. making assertive and unqualified statements. Given the limited use of hedging and boosting and the tendency to make unhedged statements, limited rhetorical functions were detected. The study has useful implications for academic writing instruction especially in EFL context.

Violazioni amministrative in campo forestale. Confronto fra normative regionali

The present work is proposed as a contribution to discussion about new Italian forest legislation and as a possible starting point for future policies. Some regional regulations have been compared for what concerns the administrative sanctioning rules applied in the sector. To give concreteness to the present argument, a specific case study has been carried out in the province of Cuneo (Piedmont, Italy). The istance has been chosen for its representativeness and high frequency, being its dendrometric parameters common in other regional contexts. Specifically, a pure meso-eutrophic beechwood has been analyzed. This has revealed a certain lack of homogeneity in the attribution of the form of forest management (coppice vs. highforest management systems). In fact there are different legal definitions of their dendrometric parameters. As a result, there are different silvicultural treatments to apply and very different levels of growing stock (in terms of number of trees, canopy cover area or tree volume) to be released. But it is above all the estimations of the allowable cut considered illegal (i.e. in stock volume and in number of trees), and even more the amounts of the administrative penalties that display the greatest differences. These differences would be even more relevant in the case of implementation of the European Union Regulation no. 995/2010, the so-called “Due Diligence”, which contrasts the trade of illegally sourced timber, and enumerates cases of law infringements strictly dependent on the configuration of the administrative offenses defined by regional regulations. The study carried out therefore highlights the opportunity to evaluate, in the appropriate areas of interinstitutional collaboration, the control algorithms for the best possible harmonization of the applicable regulations in Italy; the final goal should be the reduction of possible competitive imbalances between various companies operating in different regional contexts.

THE RELIEF AND TEXT OFIGII31 298: LEUKON AND HIS SONS IN ATHENS AND MYTILENE

This article examines an important document in the history of Athens’ relations with the rulers of the Bosporus, namely the stele on which we have the decree (IGII31 298) and its relief. The article argues that, in their different ways, both the decree and the relief stress the same theme – continuity. The relief portrays the two sons of Leukon, who have succeeded to the throne, on which they sit, holding a sceptre, while their father (deceased, of course) stands and gazes over them. This figure is not their brother (as scholars usually assert, as if fact). Therefore, in addition to the particular case of this stele, with all its importance for the relationship between Athens and the Bosporans, there is also a more general conclusion on the theme of the interaction of the two main features of the stele, namely the written decree and the relief which stands above it. That kind of interaction has been a matter of considerable discussion in recent years. In this instance, at any rate, we have – on the present argument – what is in essence the same emphasis in both written decree and relief. Their consistent stress on continuity in the relationship between Athens and the rulers of the Bosporus does leave some uncertainty (particularly in our understanding of the treatment of Apollonios, who is omitted from the relief and from the decree itself), but there seems to be nothing here to undermine or disrupt the shared emphasis on continuity in the decree and the relief. Finally, brief attention is paid to a small fragment of an inscription from Mytilene (IGXII 2 3) and its historical value for the study of Athenian relations with the Bosporus.

Superharmonic instability of nonlinear travelling wave solutions in Hamiltonian systems

The problem of linear instability of a nonlinear travelling wave in a canonical Hamiltonian system with translational symmetry subject to superharmonic perturbations is discussed. It is shown that exchange of stability occurs when energy is stationary as a function of wave speed. This generalizes a result proved by Saffman (J. Fluid Mech., vol. 159, 1985, pp. 169–174) for travelling wave solutions exhibiting a wave profile with reflectional symmetry. The present argument remains true for any non-canonical Hamiltonian system that can be cast in Darboux form, i.e. a canonical Hamiltonian form on a submanifold defined by constraints, such as a two-dimensional surface wave on a constant shearing flow, revealing a general feature of Hamiltonian dynamics.

From Business to a Just and Humane Society

Chapter 5 completes the argument on honorable business by specifying a “hierarchy of moral value” linking the individual businessperson’s activities to the purpose of a firm within a properly functioning market economy that is itself part of a just and humane society. If these relationships have been correctly described, the individual businessperson should be able to give an account of his or her professional activities that connects them all the way up the chain of moral purpose to the kind of society in which we should all want to live. The chapter also looks at the increase in material prosperity the world has experienced since approximately 1800 and connects that prosperity to the “hierarchy of moral value.” The chapter considers the role of government and regulation in the creation of prosperity and explores the extent to which the present argument connects to ethical theories of deontology, utilitarianism, and virtue ethics.

Reimagining the sociology of punishment through the global-south: postcolonial social control and modernization discontents

Traditional theoretical accounts in the sociology of punishment largely overlook the situation of crime control and mass incarceration outside Western democracies. In this sense, their explanatory power has a limited reach. It is fundamental to engage with different contexts for expanding the scope of this transdisciplinary field, while also rethinking its foundational canons. By thinking through the global-south, the present argument advocates the development of a decentred perspective to punishment and crime control. In a two-pronged approach, the article argues that peripheral countries have attempted to modernize their criminal justice apparatuses, while social control in Western democracies has increasingly adopted postcolonial features. The aim is not only to expand this scholarship by encompassing more diversity, but also to refine existing accounts through insights from other realities.