Backbone-free duplex-stacked monomer nucleic acids exhibiting Watson-Crick selectivity.

We demonstrate that nucleic acid (NA) mononucleotide triphosphates (dNTPs and rNTPs), at sufficiently high concentration and low temperature in aqueous solution, can exhibit a phase transition in which chromonic columnar liquid crystal ordering spontaneously appears. Remarkably, this polymer-free state exhibits, in a self-assembly of NA monomers, the key structural elements of biological nucleic acids, including: long-ranged duplex stacking of base pairs, complementarity-dependent partitioning of molecules, and Watson-Crick selectivity, such that, among all solutions of adenosine, cytosine, guanine, and thymine NTPs and their binary mixtures, duplex columnar ordering is most stable in the A-T and C-G combinations

X-linked adrenoleukodystrophy and primary adrenal insufficiency

X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). According to population studies, X-ALD has an estimated birth prevalence of 1 in 17.000 subjects (considering both hemizygous males and heterozygous females), and there is no evidence that this prevalence varies among regions or ethnic groups. ALDP deficiency results in a defective peroxisomal β-oxidation of very long chain fatty acids (VLCFA). As a consequence of this metabolic abnormality, VLCFAs accumulate in nervous system (brain white matter and spinal cord), testis and adrenal cortex. All X-ALD affected patients carry a mutation on the ABCD1 gene. Nevertheless, patients with a defect on the ABCD1 gene can have a dramatic difference in the clinical presentation of the disease. In fact, X-ALD can vary from the most severe cerebral paediatric form (CerALD), to adult adrenomyeloneuropathy (AMN), Addison-only and asymptomatic forms. Primary adrenal insufficiency (PAI) is one of the main features of X-ALD, with a prevalence of 70% in ALD/AMN patients and 5% in female carriers. The pathogenesis of X-ALD related PAI is still unclear, even if a few published data suggests a defective adrenal response to ACTH, related to VLCFA accumulation with progressive disruption of adrenal cell membrane function and ACTH receptor activity. The reason why PAI develops only in a proportion of ALD/AMN patients remains incompletely understood. A growing consensus supports VLCFA assessment in all male children presenting with PAI, as early diagnosis and start of therapy may be essential for X-ALD patients. Children and adults with PAI require individualized glucocorticoid replacement therapy, while mineralocorticoid therapy is needed only in a few cases after consideration of hormonal and electrolytes status. Novel approaches, such as prolonged release glucocorticoids, offer potential benefit in optimizing hormonal replacement for X-ALD-related PAI. Although the association between PAI and X-ALD has been observed in clinical practice, the underlying mechanisms remain poorly understood. This paper aims to explore the multifaceted relationship between PAI and X-ALD, shedding light on shared pathophysiology, clinical manifestations, and potential therapeutic interventions

CORRIGENDUM to The mechanisms of acute interstitial nephritis in the era of immune checkpoint inhibitors in melanoma

In this article, the authors’ first names and surnames were incorrectly listed in the wrong order. The correct author list is: Marco Tucci, Anna Passarelli, Annalisa Todisco, Francesco Mannavola, Luigia Stefania Stucci, Stella D’Oronzo, Michele Rossini, Marco Taurisano, Loreto Gesualdo and Franco Silvestris

Room temperature polariton condensation from Whispering gallery modes in CsPbBr3 microplatelets

Room temperature (RT) polariton condensate holds exceptional promise for revolutionizing various fields of science and technology, encompassing optoelectronics devices to quantum information processing. Using perovskite materials like all-inorganic CsPbBr3 single crystal provides additional advantages, such as ease of synthesis, cost-effectiveness, and compatibility with existing semiconductor technologies. In this work, we show the formation of whispering gallery modes (WGM) in CsPbBr3 single crystals with controlled geometry, synthesized using a lowcost and efficient capillary bridge method. Through the implementation of microplatelets geometry, we achieve enhanced optical properties and performance thanks to the presence of sharp edges and a uniform surface, effectively avoiding non-radiative scattering losses caused by defects. This allows us not only to observe strong light matter coupling and formation of whispering gallery polaritons, but also to demonstrate the onset of polariton condensation at RT. This investigation not only contributes to the advancement of our knowledge concerning the exceptional optical properties of perovskite-based polariton systems, but also unveils prospects for the exploration of WGM polariton condensation within the framework of a 3D perovskite-based platform, working at RT. The unique characteristics of polariton condensate, including low excitation thresholds and ultrafast dynamics, open up unique opportunities for advancements in photonics and optoelectronics devices

Using TMS-EEG to assess the effects of neuromodulation techniques: a narrative review

Over the past decades, among all the non-invasive brain stimulation (NIBS) techniques, those aiming for neuromodulatory protocols have gained special attention. The traditional neurophysiological outcome to estimate the neuromodulatory effect is the motor evoked potential (MEP), the impact of NIBS techniques is commonly estimated as the change in MEP amplitude. This approach has several limitations: first, the use of MEP limits the evaluation of stimulation to the motor cortex excluding all the other brain areas. Second, MEP is an indirect measure of brain activity and is influenced by several factors. To overcome these limitations several studies have used new outcomes to measure brain changes after neuromodulation techniques with the concurrent use of transcranial magnetic stimulation (TMS) and electroencephalogram (EEG). In the present review, we examine studies that use TMS-EEG before and after a single session of neuromodulatory TMS. Then, we focused our literature research on the description of the different metrics derived from TMS-EEG to measure the effect of neuromodulation

Engineering Dion-Jacobson Perovskites in Polariton Waveguides

Hybrid two-dimensional perovskites hold considerable promise as semiconductors for a wide range of optoelectronic applications. Many efforts are addressed to exploit the potential of these materials by tailoring their characteristics. In this work, the optical properties and electronic band structure in three new Dion-Jacobson (DJ) perovskites (PVKs) are engineered by modulating their structural distortion. Two different interlayer cations: 1-6, Hexamethylendiammonium, HE, and 3-(Dimethylamino)-1-propylammonium, DMPA, have been selected to investigate the role of the cation length and the ammonium binding group on the crystalline structure. This study provides new insights into the understanding of the structure-property relationship in DJ perovskites and demonstrates that exciton characteristics can be easily modulated with the judicious design of the organic cations. DJ PVKs developed in this work were also grown as size-controlled single crystal microwires through a microfluidic-assisted synthesis technique and integrated in a nanophotonic device. The DJ PVK microwire acts as a waveguide exhibiting strong light-matter coupling between the crystal optical modes and DJ PVK exciton. Through the investigation of these polariton waveguides, the nature of the double peak emission, which is often observed in these materials and whose nature is largely debated in the literature, is demonstrated originating from the hybrid polariton state

VID22 counteracts G-quadruplex-induced genome instability

Genome instability is a condition characterized by the accumulation of genetic alterations and is a hallmark of cancer cells. To uncover new genes and cellular pathways affecting endogenous DNA damage and genome integrity, we exploited a Synthetic Genetic Array (SGA)-based screen in yeast. Among the positive genes, we identified VID22, reported to be involved in DNA double-strand break repair. vid22Δ cells exhibit increased levels of endogenous DNA damage, chronic DNA damage response activation and accumulate DNA aberrations in sequences displaying high probabilities of forming G-quadruplexes (G4-DNA). If not resolved, these DNA secondary structures can block the progression of both DNA and RNA polymerases and correlate with chromosome fragile sites. Vid22 binds to and protects DNA at G4-containing regions both in vitro and in vivo. Loss of VID22 causes an increase in gross chromosomal rearrangement (GCR) events dependent on G-quadruplex forming sequences. Moreover, the absence of Vid22 causes defects in the correct maintenance of G4-DNA rich elements, such as telomeres and mtDNA, and hypersensitivity to the G4-stabilizing ligand TMPyP4. We thus propose that Vid22 is directly involved in genome integrity maintenance as a novel regulator of G4 metabolism.Associazione Italiana per la Ricerca sul Cancro (AIRC) 15631, 21806MIUR PRIN 2015- 2015SJLMB9, PRIN 2017-2017KSZZJW, PRIN2017-2017Z55KCMinisterio de Economía y Competitividad BFU2016- 75058-PCanadian Institutes of Health Research FDN-15991