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Silicene has recently been revisited as a 2D material with potential thermoelectric applications. Here, the thermal properties of supported silicene are determined by optothermal Raman spectroscopy. Single and multilayer silicene is grown either directly on silver (Ag) substrates or on an intermediate tin (Sn) monolayer, introduced to reduce the influence of the substrate on the physical properties of silicene. Experimental values of an effective cross‐plane thermal conductivity of 0.5 W/mK are obtained for silicene on Ag and 0.3 W/mK for silicene on stanene‐Ag. The values of the interfacial thermal conductance, on the other hand, are 0.3 and 0.5 GW/m2K, respectively. Heterostack engineering is confirmed as a versatile strategy for extracting relevant physical parameters in silicene and for modulating the thermal response in the 2D limit. [ABSTRACT FROM AUTHOR]

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. Themain phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral ALD consists of a demyelinating progressive cerebral white matter (WM) disease associated with rapid clinical decline and is fatal if left untreated. Hematopoietic stem cell transplantation is the standard treatment for cALD as it stabilizes WM degeneration when performed early in the disease. For this reason, early diagnosis is crucial, and several countries have already implemented their newborn screening programs (NBS) with the assessment of C26:0-lysophosphatidylcholine (C26:0-LPC) values as screening for X-ALD. Methods: In June 2021, an Italian group in Lombardy launched a pilot study for the implementation of X-ALD in the Italian NBS program. A three-tiered approach was adopted, and it involved quantifying the values of C26:0-LPC and other metabolites in dried blood spots with FIA-MS/MS first, followed by the more specific ultra-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) technique and, finally, the genetic confirmation via focused NGS. Discussion: Genetically confirmed patients are set to undergo a follow-up protocol and are periodically evaluated to promptly start a specific treatment if and when the first signs of brain damage appear, as suggested by international guidelines. A specific disease monitoring protocol has been created based on literature data and personal direct experience. Conclusion: The primary aim of this study was to develop a model able to improve the early diagnosis and subsequent follow-up and timely treatment of X-ALD. Ethics: The study was approved by the local ethics committee. The research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest. [ABSTRACT FROM AUTHOR]

Stanene is one of the most intriguing two-dimensional (2D) materials because of its nontrivial topological properties. Here, the optical properties from THz to UV of molecular beam deposited tin nanosheets on Al2O3(0001) are reported. The experimental absorption coefficient cannot be described in terms of metallic tin or tin oxides. Nonetheless, a similar optical behavior was predicted by theory for freestanding stanene, thus suggesting the formation of the 2D tin nanosheets with stanene-like properties. These findings show that 2D tin bears appealing optical properties in a broad range of the electromagnetic spectrum, thus paving the way to Xenes-based nanophotonics. [ABSTRACT FROM AUTHOR]

Surface plasmon polaritons (SPPs) are electromagnetic excitations existing at the interface between a metal and a dielectric. SPPs provide a promising path in nanophotonic devices for light manipulation at the micro and nanoscale with applications in optoelectronics, biomedicine, and energy harvesting. Recently, SPPs are extended to unconventional materials like graphene, transparent oxides, superconductors, and topological systems characterized by linearly dispersive electronic bands. In this respect, 3D Dirac and Weyl semimetals offer a promising frontier for infrared (IR) and terahertz (THz) radiation tuning by topologically-protected SPPs. In this work, the THz-IR optical response of platinum ditelluride (PtTe 2 ) type-II Dirac topological semimetal films grown on Si substrates is investigated. SPPs generated on microscale ribbon arrays of PtTe 2  are detected in the far-field limit, finding an excellent agreement among measurements, theoretical models, and electromagnetic simulation data. The far-field measurements are further supported by near-field IR data which indicate a strong electric field enhancement due to the SPP excitation near the ribbon edges. The present findings indicate that the PtTe 2  ribbon array appears an ideal active layout for geometrically tunable SPPs thus inspiring a new fashion of optically tunable materials in the technologically demanding THz and IR spectrum., (© 2024 Wiley‐VCH GmbH.)

Leukodystrophies are a class of rare heterogeneous disorders which affect the white matter of the brain, ultimately leading to a disruption in brain development and a damaging effect on cognitive, motor and social-communicative development. These disorders present a great clinical heterogeneity, along with a phenotypic overlap and this could be partially due to contributions from environmental stimuli. It is in this context that there is a great need to investigate what other factors may contribute to both disease insurgence and phenotypical heterogeneity, and novel evidence are raising the attention toward the study of epigenetics and transcription mechanisms that can influence the disease phenotype beyond genetics. Modulation in the epigenetics machinery including histone modifications, DNA methylation and non-coding RNAs dysregulation, could be crucial players in the development of these disorders, and moreover an aberrant RNA maturation process has been linked to leukodystrophies. Here, we provide an overview of these mechanisms hoping to supply a closer step toward the analysis of leukodystrophies not only as genetically determined but also with an added level of complexity where epigenetic dysregulation is of key relevance. This article is categorized under: Regulatory RNAs/RNAi/Riboswitches > Regulatory RNA RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development., (© 2024 The Author(s). WIREs RNA published by Wiley Periodicals LLC.)

Heterostacks formed by combining two-dimensional materials show novel properties which are of great interest for new applications in electronics, photonics and even twistronics, the new emerging field born after the outstanding discoveries on twisted graphene. Here, we report the direct growth of tin nanosheets at the two-dimensional limit via molecular beam epitaxy on chemical vapor deposited graphene on Al 2 O 3 (0001). The mutual interaction between the tin nanosheets and graphene is evidenced by structural and chemical investigations. On the one hand, Raman spectroscopy indicates that graphene undergoes compressive strain after the tin growth, while no charge transfer is observed. On the other hand, chemical analysis shows that tin nanosheets interaction with sapphire is mediated by graphene avoiding the tin oxidation occurring in the direct growth on this substrate. Remarkably, optical measurements show that the absorption of tin nanosheets exhibits a graphene-like behavior with a strong absorption in the ultraviolet photon energy range, therein resulting in a different optical response compared to tin nanosheets on bare sapphire. The optical properties of ultra-thin tin films therefore represent an open and flexible playground for the absorption of light in a broad range of the electromagnetic spectrum and technologically relevant applications for photon harvesting and sensors., (Creative Commons Attribution license.)

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral ALD consists of a demyelinating progressive cerebral white matter (WM) disease associated with rapid clinical decline and is fatal if left untreated. Hematopoietic stem cell transplantation is the standard treatment for cALD as it stabilizes WM degeneration when performed early in the disease. For this reason, early diagnosis is crucial, and several countries have already implemented their newborn screening programs (NBS) with the assessment of C26:0-lysophosphatidylcholine (C26:0-LPC) values as screening for X-ALD., Methods: In June 2021, an Italian group in Lombardy launched a pilot study for the implementation of X-ALD in the Italian NBS program. A three-tiered approach was adopted, and it involved quantifying the values of C26:0-LPC and other metabolites in dried blood spots with FIA-MS/MS first, followed by the more specific ultra-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) technique and, finally, the genetic confirmation via focused NGS., Discussion: Genetically confirmed patients are set to undergo a follow-up protocol and are periodically evaluated to promptly start a specific treatment if and when the first signs of brain damage appear, as suggested by international guidelines. A specific disease monitoring protocol has been created based on literature data and personal direct experience., Conclusion: The primary aim of this study was to develop a model able to improve the early diagnosis and subsequent follow-up and timely treatment of X-ALD., Ethics: The study was approved by the local ethics committee. The research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Bonaventura, Alberti, Lucchi, Cappelletti, Fazzone, Cattaneo, Bellini, Izzo, Parazzini, Bosetti, Di Profio, Fiore, Ferrario, Mameli, Sangiorgio, Masnada, Zuccotti, Veggiotti, Spaccini, Iascone, Verduci, Cereda, Tonduti and XALD-NBS Study Group.)

The epitaxy of silicene-on-Ag(111) renewed considerable interest in silicon (Si) when scaled down to the two-dimensional (2D) limit. This remains one of the most explored growth cases in the emerging 2D material fashion beyond graphene. However, out of a strict silicene framework, other allotropic forms of Si still deserve attention owing to technological purposes. Here, we present 2D Solid Phase Crystallization (SPC) of Si starting from an amorphous-Si on Ag(111) in atomic coverage to gain a crystalline-Si layer by post-growth annealing below 450 °C, namely Complementary Metal Oxide Semiconductor (CMOS) Back-End-of-Line (BEOL) thermal budget limit. Moreover, considering the benefit of the 2D-SPC scheme, we managed to write crystalline-Si pixels on the amorphous-Si matrix. Our in situ and ex situ analyses show that an in-plane interface or a lateral heterojunction between amorphous and crystalline-Si is formed. This amorphous-to-crystalline phase transformation suggests that 2D silicon may stem from an epitaxially grown layer and thermal self-organization/assembling., Competing Interests: There are no conflicts to declare., (This journal is © The Royal Society of Chemistry.)

Stanene is one of the most intriguing two-dimensional (2D) materials because of its nontrivial topological properties. Here, the optical properties from THz to UV of molecular beam deposited tin nanosheets on Al 2 O 3 (0001) are reported. The experimental absorption coefficient cannot be described in terms of metallic tin or tin oxides. Nonetheless, a similar optical behavior was predicted by theory for freestanding stanene, thus suggesting the formation of the 2D tin nanosheets with stanene-like properties. These findings show that 2D tin bears appealing optical properties in a broad range of the electromagnetic spectrum, thus paving the way to Xenes-based nanophotonics., Competing Interests: The authors declare no competing financial interest., (© 2021 The Authors. Published by American Chemical Society.)