Variant Forms Research Articles

Rituximab is a safe and effective alternative treatment for patients with autoimmune hepatitis: Results from the ColHai registry.

Small series suggest that rituximab could be effective as treatment for autoimmune hepatitis (AIH), although data are scarce. We aimed to evaluate the efficacy and safety of rituximab in different cohorts of patients with AIH. Multicentre retrospective analysis of the 35 patients with AIH and its variant forms treated with rituximab and included in the ColHai registry between 2015 and 2023. Most patients were female (83%), 10 (29%) had cirrhosis and four (11.4%) variant forms of AIH. Indication for rituximab were as follows: 14(40%) refractory AIH, 19(54%) concomitant autoimmune or haematological disorder, 2(6%) intolerance to prior treatments. In three (9%) subjects with a concomitant disorder, rituximab was the first therapy for AIH. Overall, 31 (89%) patients achieved or maintained complete biochemical response (CBR), including the three in first-line therapy. No difference in CBR was observed according to rituximab indication (refractory AIH 86% vs. concomitant disorders 90%, p = .824) or cirrhosis (80% vs. 92%, p = .319). Rituximab was associated with a significant reduction in corticosteroids (median dose: prior 20 vs. post 5 mg, p < .001) and the discontinuation of ≥1 immunosuppressant in 47% of patients. Flare-free rate at 1st, 2nd and 3rd year was 86%, 73% and 62% respectively. Flares were not associated with the development of liver failure and were successfully managed with repeated doses of rituximab and/or increased corticosteroids. Three (9%) patients experienced infusion-related adverse events (1 anaphylaxis and 2 flu-like symptoms) and five (14%) infections. Rituximab is safe and effective in patients with refractory AIH and those treated due to concomitant autoimmune or haematological disorders.

On the covariant formulation of gauge theories with boundaries

In the present article, we review the classical covariant formulation of Yang–Mills theory and general relativity in the presence of spacetime boundaries, focusing mainly on the derivation of the presymplectic forms and their properties. We further revisit the introduction of the edge modes and the conditions which justify them, in the context where only field-independent gauge transformations are considered. We particularly show that the presence of edge modes is not justified by gauge invariance of the presymplectic form, but rather by the condition that the presymplectic form is degenerate on the initial field space, which allows to relate this presymplectic form to the symplectic form on the gauge reduced field space via pullback.

Androgen receptor and estrogen receptor variants in prostate and breast cancers

The androgen receptor (AR) and estrogen receptor alpha (ERα) are steroid receptor transcription factors with critical roles in the development and progression of prostate and breast cancers. Advances in the understanding of mechanisms underlying the ligand-dependent activation of these transcription factors have contributed to the development of small molecule inhibitors that block AR and ERα actions. These inhibitors include competitive antagonists and degraders that directly bind the ligand binding domains of these receptors, luteinizing hormone releasing hormone (LHRH) analogs that suppress gonadal synthesis of testosterone or estrogen, and drugs that block specific enzymes required for biosynthesis of testosterone or estrogen. However, resistance to these therapies is frequent, and is often driven by selection for tumor cells with alterations in the AR or ESR1 genes and/or alternatively spliced AR or ESR1 mRNAs that encode variant forms AR or ERα. While most investigations involving AR have been within the context of prostate cancer, and the majority of investigations involving ERα have been within the context of breast cancer, important roles for AR have been elucidated in breast cancer, and important roles for ERα have been elucidated in prostate cancer. Here, we will discuss the roles of AR and ERα in breast and prostate cancers, outline the effects of gene- and mRNA-level alterations in AR and ESR1 on progression of these diseases, and identify strategies that are being developed to target these alterations therapeutically.

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 298 PD cases and 301 age-matched controls for targeted resequencing (before QC), along with 363 PD genomes of Indian ancestry and 1029 publicly available whole genomes from India as healthy controls (IndiGenomes), to determine the frequency of monogenic SNCA mutations. The raw sequence reads were analyzed using an in-house analysis pipeline, allowing the detection of small variants and structural variants using Manta. The in-depth analysis of the SNCA locus did not identify missense or structural variants, including previously identified SNCA mutations, in the Indian population. The familial forms of SNCA gene variants do not play a major role in the Indian PD population and this warrants further research in the under-represented population.

On Pseudo-Coordination in the province of Catania

This paper discusses the preliminary results of an exploratory study based on acceptability judgments about Pseudo-Coordination (PseCo) as found in the province of Catania (Sicily). PseCo is a monoclausal verbal periphrasis where an inflected verb (V1), usually of motion, is followed by another inflected verb (V2) with an optional connecting element between them (cf. Giusti, Di Caro and Ross 2022). In western Sicilian varieties, the V1 GO can occur as an invariable form (i.e., va-, vo-, uo-, o- as in Oppigghju u pani ‘I go and fetch the bread’) prefixed to the V2. An online anonymous questionnaire was administered to 295 participants (180 female, 115 male; Age M: 20,95 years, Age SD: 2,73 years) to assess whether (i) PseCo with V1 GO in the present indicative is productive among younger speakers; (ii) different forms of invariable V1 GO can cooccur in one and the same variety. The results show that PseCo in the province of Catania is still vital among younger generation of speakers and that invariable V1 GO generally occurs in at least two different forms but with no particular semantic specialization.

Recombinational exchange of M-fibril and T-pilus genes generates extensive cell surface diversity in the global group A Streptococcus population.

Among genes present in all group A streptococci (GAS), those encoding M-fibril and T-pilus proteins display the highest levels of sequence diversity, giving rise to the two primary serological typing schemes historically used to define strain. A new genotyping scheme for the pilin adhesin and backbone genes is developed and, when combined with emm typing, provides an account of the global GAS strain population. Cluster analysis based on nucleotide sequence similarity assigns most T-serotypes to discrete pilin backbone sequence clusters, yet the established T-types correspond to only half the clusters. The major pilin adhesin and backbone sequence clusters yield 98 unique combinations, defined as "pilin types." Numerous horizontal transfer events that involve pilin or emm genes generate extensive antigenic and functional diversity on the bacterial cell surface and lead to the emergence of new strains. Inferred pilin genotypes applied to a meta-analysis of global population-based collections of pharyngitis and impetigo isolates reveal highly significant associations between pilin genotypes and GAS infection at distinct ecological niches, consistent with a role for pilin gene products in adaptive evolution. Integration of emm and pilin typing into open-access online tools (pubmlst.org) ensures broad utility for end-users wanting to determine the architecture of M-fibril and T-pilus genes from genome assemblies.IMPORTANCEPrecision in defining the variant forms of infectious agents is critical to understanding their population biology and the epidemiology of associated diseases. Group A Streptococcus (GAS) is a global pathogen that causes a wide range of diseases and displays a highly diverse cell surface due to the antigenic heterogeneity of M-fibril and T-pilus proteins which also act as virulence factors of varied functions. emm genotyping is well-established and highly utilized, but there is no counterpart for pilin genes. A global GAS collection provides the basis for a comprehensive pilin typing scheme, and online tools for determining emm and pilin genotypes are developed. Application of these tools reveals the expansion of structural-functional diversity among GAS via horizontal gene transfer, as evidenced by unique combinations of surface protein genes. Pilin and emm genotype correlations with superficial throat vs skin infection provide new insights on the molecular determinants underlying key ecological and epidemiological trends.

Bone Metastasis from Renal Cancer Coinciding with the Same Anatomical Position as a Vertebral Hemangioma: A Collision Lesion Case Report

AbstractCollisions lesions are rare neoplasms where two histologically distinct tumors coexist in the same organ or anatomical site. Vertebral hemangiomas (VHs) are the most common lesions involving the vertebral bodies and imaging findings of typical and atypical hemangiomas, variant forms of hemangioma such as aggressive hemangiomas are well known, but collision lesions involving VHs are extremely rare. This article presents a case report of a 73-year-old male patient diagnosed with clear cell renal cancer in a rare presentation of a bone metastasis coinciding with the same anatomical position as a VH (collision lesion). This required a multidisciplinary approach involving various diagnostic techniques to determine the best therapeutic management.

‘Digastricus’ axillary arch: A potential source of hyperabduction syndrome- Case report

Axillary arch is an anatomical variant musculo-tendinous structure that originates from the latissimus dorsi muscle and often inserted to the pectoralis major muscle. Being musculo-tendinous, its one end is generally muscular and another end is tendinous. Here we report a variant muscular arch with its both ends muscular and were joined by an intermediate tendinous slip; thus, the name digastricus axillary arch. This variant form of axillary arch was encountered unilaterally in an elderly female cadaver and appeared to be compressing the neurovascular structures at the vicinity of axilla. Presence of axillary arch known to cause various complications such as brachial plexus compression, hyperabduction syndrome, thoracic outlet syndrome etc. The clinicians, therefore must have a prior knowledge of rare existence of axillary arch muscle before considering differential diagnosis in the patients presenting upper extremity neurovascular symptoms without demonstrable compressions&#x0D; Bangladesh Journal of Medical Science Vol. 23 No. 02 April’24 Page : 542-545

Pre-design analyses of the mutual relationship and location of multi-family buildings using the example of the architectural and spatial concept at Długosza 22a in Warsaw

When designing multi-family buildings on plots that have not yet been developed, an important element is their location and its careful preparation. Pre-design analyses allow for the simulation of various solutions in order to select the most advantageous location of individual volumes and accompanying spaces. Appropriate arrangement of architecture and other land development functions helps to meet a number of formal and legal requirements, but also provides an opportunity for effective and comfortable living in a future multi-family development. The aim of the study is to show the possibilities offered by pre-design analyses in terms of sunlight and the organisation of space between buildings. Another goal is to outline the benefits of performing such analyses. Thanks to them, it is possible to use compromise in design solutions when it turns out that individual variants of a building location have better or worse properties, or certain conditions are mutually exclusive. The results were presented in the form of variants, presenting various land development solutions and relating directly to the previously conducted analyses. The analyses presented in the article allow for precise formulation of conclusions, and their selection is justified by the possibility of transparent and graphical interpretation of the algorithms performed during design.

Abstract 419: Evolutionary trajectories of complex genome rearrangements in osteosarcoma

Abstract Whole-genome sequencing (WGS) studies have revealed that osteosarcoma genomes are riddled by remarkably intricate forms of structural variants (SV), collectively known as complex genomic rearrangements (CGR). Yet, most CGR detected in osteosarcoma remain unexplained, hinting at the possibility of undiscovered mechanisms that might lead to novel therapeutic strategies. To elucidate the mechanisms underpinning cancer genome complexity in osteosarcomas and the downstream consequences of CGR during tumor evolution, we uniformly processed exiting osteosarcoma WGS data sets and performed high-depth (&amp;gt;120x) multi-regional short- and long-read WGS for hundreds of osteosarcomas. We found that whole genome doubling and diverse types of CGR are frequent clonal events in most osteosarcomas. Through the integration of multi-regional WGS data, we discovered that in tumors with whole-genome doubling, cancer genome evolution and oncogene amplification are the consequence of multi-generational CGR triggered by whole-genome doubling and involving multiple mechanisms, especially chromothripsis and breakage-fusion-bridge cycles. By contrast, in tumors without whole-genome doubling, biallelic inactivation of TP53 and oncogene amplification frequently occur as part of a cascade of genomic instability initiated by a single double-strand break upstream of the TP53 locus. This process results in clonal diversification and rapid tumor growth suggestive of punctuated evolution. In addition, we found that subclonal CGRs are also frequent events. Indeed, clonal expansions triggered by the acquisition of subclonal CGR often colonize distant tumor regions, suggesting that CGR act as subclonal driver events. Finally, we show that some recurrent genomic alterations are prognostic of poor survival, which we validate in independent cohorts. In sum, using WGS data, we have elucidated the mechanisms underpinning the complexity and evolution of osteosarcoma genomes. Our results indicate that diverse types of CGR, such as chromothripsis, are triggered by whole genome doubling and occur throughout tumor evolution, which primes the cancer genome for ongoing genomic instability, rapid karyotype evolution and clonal diversification. These results have implications for our understanding of the molecular basis of intra-tumor heterogeneity and drug resistance in osteosarcomas and other cancers driven by genomic instability. Citation Format: Isidro Cortes Ciriano, Jose Espejo Valle-Inclán, Solange de Noon, Katherine Trevers, Hillary Elrick, Adrienne M. Flanagan. Evolutionary trajectories of complex genome rearrangements in osteosarcoma [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 419.

Three Prenatal Developments in the Retina Allow for Cortico-Retinal Image Processing in Situ in the Eye

Image processing in the retina of the eye has thus far been mainly dealt with analogous to photographic ray optics i. e., imaging lens optics and photodiode arrays. However, it does not offer an answer to the questions that are crucial to human vision: WHAT a visible object invariantly represents conceptually (a house, a tree, etc.), WHERE it is located in relation to other objects in space or which RGB-colors and/or luminosities collaborate locally. For this purpose, ray optics needs to be supplemented by diffractive wave optics, which can be described as Fresnel near-field interference in cellular or spatial gratings. The fact that interference optics plays a decisive role in vision has already been proven by the fact that in binocular vision the image brightness is preserved when closing one eye. However, with the introduction of interference-wave-optics and especially with Fresnel Nearfield interference optics the cortico-retinal image processing now becomes possible in the eye, i.e. in the retina of the peripheral visual organ. Fresnel Nearfield interference optics especially allows multilayer proceeding and a better understanding of hierarchical imaging systems. It clearly becomes apparent in the di- and trichromatic proceeding and by the separation of color proceeding from invariant object form proceeding. Color - as an example - is not produced at the visual objects and also not in the cortex, but in the Fresnel space of the retina.

Emerging significance of butyrylcholinesterase.

Butyrylcholinesterase (BChE; EC 3.1.1.8), an enzyme structurally related to acetylcholinesterase, is widely distributed in the human body. It plays a role in the detoxification of chemicals such as succinylcholine, a muscle relaxant used in anesthetic practice. BChE is well-known due to variant forms of the enzyme with little or no hydrolytic activity which exist in some endogamous communities and result in prolonged apnea following the administration of succinylcholine. Its other functions include the ability to hydrolyze acetylcholine, the cholinergic neurotransmitter in the brain, when its primary hydrolytic enzyme, acetylcholinesterase, is absent. To assess its potential roles, BChE was studied in relation to insulin resistance, type 2 diabetes mellitus, cognition, hepatic disorders, cardiovascular and cerebrovascular diseases, and inflammatory conditions. Individuals who lack the enzyme activity of BChE are otherwise healthy, until they are given drugs hydrolyzed by this enzyme. Therefore, BChE is a candidate for the study of loss-of-function mutations in humans. Studying individuals with variant forms of BChE can provide insights into whether they are protected against metabolic diseases. The potential utility of the enzyme as a biomarker for Alzheimer's disease and the response to its drug treatment can also be assessed.

Quantum–classical correspondence and dissipative to dissipationless crossover in magnetotransport phenomena

The three-dimensional magneto-conductivity tensor was derived in a gauge invariant form based on the Kubo formula considering quantum effects under a magnetic field, such as the Landau quantization and quantum oscillations. We analytically demonstrated that the quantum formula of the magneto-conductivity can be obtained by adding a quantum oscillation factor to the classical formula. This result establishes the quantum–classical correspondence, which has long been missing in magnetotransport phenomena. Moreover, we found dissipative-to-dissipationless crossover in the Hall conductivity by paying special attention to the analytic properties of the thermal Green’s function. Finally, by calculating the magnetoresistance of semimetals, we identified a phase shift in quantum oscillation originating from the dissipationless transport predominant at high fields.

3d super hyperbolic geometry

Wigner's unitary representation of the Lorentz group is extended to a representation of the complex orthosymplectic Lie super group OSpC(1|2) acting on Minkowski (3,1|4)-dimensional super space essentially by Hermitean conjugation. The invariant quadratic form is x1x2−xx¯+ϕψ+ϕ¯ψ¯ in Wigner's coordinates x1,x2∈R and x∈C, where ϕ,ψ are Dirac fermions. The extended action is linear in the super space variables, but not quadratic in the odd group variables, and is described by an explicit even purely imaginary auxiliary parameter defined on the product of the Lie super group with its Lie algebra. This extension of Wigner's representation opens the door to studying geometry in super hyperbolic three-space with this metric, initiated here with foundations on super geodesics, triangles and tetrahedra, and culminating in a proof of divergence of the volume of a typical ideal tetrahedron and a discussion of the non-zero fermionic correction to the Schläfli formula.

Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech

Recent work putatively linked a rare genetic variant of the chaperone Resistant to Inhibitors of acetylcholinesterase (RIC3) (NM_024557.4:c.262G > A, NP_078833.3:p.G88R) to a unique ability to speak backwards, a language skill that is associated with exceptional working memory capacity. RIC3 is important for the folding, maturation, and functional expression of α7 nicotinic acetylcholine receptors (nAChR). We compared and contrasted the effects of RIC3G88R on assembly, cell surface expression, and function of human α7 receptors using fluorescent protein tagged α7 nAChR and Förster resonance energy transfer (FRET) microscopy imaging in combination with functional assays and 125I-α-bungarotoxin binding. As expected, the wild-type RIC3 protein was found to increase both cell surface and functional expression of α7 receptors. In contrast, the variant form of RIC3 decreased both. FRET analysis showed that RICG88R increased the interactions between RIC3 and α7 protein in the endoplasmic reticulum. These results provide interesting and novel data to show that a RIC3 variant alters the interaction of RIC3 and α7, which translates to decreased cell surface and functional expression of α7 nAChR.

On the Question of Differential Diagnosis of Skin Hyperpigmentations: The Clinical Case of Notalgia Paresthetica

Introduction. Developmental disorders acquire an extensive group of diseases, including congenital forms in inheritance variants, as well as secondary acquired forms due to skin or systemic manifestations.The purpose of this publication is to demonstrate the features of the differential diagnosis of skin hyperpigmentation to identify the clinical manifestation of notalgia paresthetica.Materials and methods. A review of foreign and domestic literary sources was carried out using the search engines eLibrary.Ru, Scopus, PubMed. On the basis of the patient’s voluntary informed consent, an analysis of medical documentation was carried out, taking into account clinical and anamnestic data and the results of laboratory and instrumental examination. Results. The article presents a review of the literature, as well as a clinical case of notalgia paresthetica in a patient with degenerative-dystrophic changes in the thoracic spine.Discussion. Notalgia paresthetica belongs to a large group of cutaneous dysesthesias and is a sensory neuropathy characterized by localized unilateral itching and hyperpigmentation of the skin of the back in the zone of innervation of the cutaneous branches of the thoracic spinal nerves, affecting more often adult and elderly women. The nonspecificity of skin manifestations of notalgia paresthetica and the low awareness of doctors about this disease can lead to diagnostic and tactical errors. Skin itching of varying intensity is the main symptom of the disease, leading to an accentuation of its disease and a decrease in the quality of life of patients.Conclusion. Given the interdisciplinary nature of the pathology, the article may be of interest to neurologists, neurosurgeons, dermatovenereologists, general practitioners, general practitioners, oncologists, and endocrinologists.

Effects of Tcte1 knockout on energy chain transportation and spermatogenesis: implications for male infertility.

Is the Tcte1 mutation causative for male infertility? Our collected data underline the complex and devastating effect of the single-gene mutation on the testicular molecular network, leading to male reproductive failure. Recent data have revealed mutations in genes related to axonemal dynein arms as causative for morphology and motility abnormalities in spermatozoa of infertile males, including dysplasia of fibrous sheath (DFS) and multiple morphological abnormalities in the sperm flagella (MMAF). The nexin-dynein regulatory complex (N-DRC) coordinates the dynein arm activity and is built from the DRC1-DRC7 proteins. DRC5 (TCTE1), one of the N-DRC elements, has already been reported as a candidate for abnormal sperm flagella beating; however, only in a restricted manner with no clear explanation of respective observations. Using the CRISPR/Cas9 genome editing technique, a mouse Tcte1 gene knockout line was created on the basis of the C57Bl/6J strain. The mouse reproductive potential, semen characteristics, testicular gene expression levels, sperm ATP, and testis apoptosis level measurements were then assessed, followed by visualization of N-DRC proteins in sperm, and protein modeling in silico. Also, a pilot genomic sequencing study of samples from human infertile males (n = 248) was applied for screening of TCTE1 variants. To check the reproductive potential of KO mice, adult animals were crossed for delivery of three litters per caged pair, but for no longer than for 6 months, in various combinations of zygosity. All experiments were performed for wild-type (WT, control group), heterozygous Tcte1+/- and homozygous Tcte1-/- male mice. Gross anatomy was performed on testis and epididymis samples, followed by semen analysis. Sequencing of RNA (RNAseq; Illumina) was done for mice testis tissues. STRING interactions were checked for protein-protein interactions, based on changed expression levels of corresponding genes identified in the mouse testis RNAseq experiments. Immunofluorescence in situ staining was performed to detect the N-DRC complex proteins: Tcte1 (Drc5), Drc7, Fbxl13 (Drc6), and Eps8l1 (Drc3) in mouse spermatozoa. To determine the amount of ATP in spermatozoa, the luminescence level was measured. In addition, immunofluorescence in situ staining was performed to check the level of apoptosis via caspase 3 visualization on mouse testis samples. DNA from whole blood samples of infertile males (n = 137 with non-obstructive azoospermia or cryptozoospermia, n = 111 samples with a spectrum of oligoasthenoteratozoospermia, including n = 47 with asthenozoospermia) was extracted to perform genomic sequencing (WGS, WES, or Sanger). Protein prediction modeling of human-identified variants and the exon 3 structure deleted in the mouse knockout was also performed. No progeny at all was found for the homozygous males which were revealed to have oligoasthenoteratozoospermia, while heterozygous animals were fertile but manifested oligozoospermia, suggesting haploinsufficiency. RNA-sequencing of the testicular tissue showed the influence of Tcte1 mutations on the expression pattern of 21 genes responsible for mitochondrial ATP processing or linked with apoptosis or spermatogenesis. In Tcte1-/- males, the protein was revealed in only residual amounts in the sperm head nucleus and was not transported to the sperm flagella, as were other N-DRC components. Decreased ATP levels (2.4-fold lower) were found in the spermatozoa of homozygous mice, together with disturbed tail:midpiece ratios, leading to abnormal sperm tail beating. Casp3-positive signals (indicating apoptosis) were observed in spermatogonia only, at a similar level in all three mouse genotypes. Mutation screening of human infertile males revealed one novel and five ultra-rare heterogeneous variants (predicted as disease-causing) in 6.05% of the patients studied. Protein prediction modeling of identified variants revealed changes in the protein surface charge potential, leading to disruption in helix flexibility or its dynamics, thus suggesting disrupted interactions of TCTE1 with its binding partners located within the axoneme. All data generated or analyzed during this study are included in this published article and its supplementary information files. RNAseq data are available in the GEO database (https://www.ncbi.nlm.nih.gov/geo/) under the accession number GSE207805. The results described in the publication are based on whole-genome or exome sequencing data which includes sensitive information in the form of patient-specific germline variants. Information regarding such variants must not be shared publicly following European Union legislation, therefore access to raw data that support the findings of this study are available from the corresponding author upon reasonable request. In the study, the in vitro fertilization performance of sperm from homozygous male mice was not checked. This study contains novel and comprehensive data concerning the role of TCTE1 in male infertility. The TCTE1 gene is the next one that should be added to the 'male infertility list' because of its crucial role in spermatogenesis and proper sperm functioning. This work was supported by National Science Centre in Poland, grants no.: 2015/17/B/NZ2/01157 and 2020/37/B/NZ5/00549 (to M.K.), 2017/26/D/NZ5/00789 (to A.M.), and HD096723, GM127569-03, NIH SAP #4100085736 PA DoH (to A.N.Y.). The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Crystallinity as a factor of SERS stability of silver nanoparticles formed by Ar+ irradiation

The plasmonic sensors based on silver nanoparticles are limited in application due to their relatively fast degradation in the ambient atmosphere. The technology of ion-beam modification for the creation of monocrystalline silver nanoparticles (NPs) with stable plasmonic properties will expand the application of silver nanostructures. In the present study, highly-stable monocrystalline NPs were formed on the basis of a thin silver film by low-energy ion irradiation. Combined with lithography, this technique allows the creation of nanoparticle ensembles in variant forms. The characterization of the nanoparticles formed by ion-beam modification showed long-term outstanding for Ag nanoparticles stability of their plasmonic properties due to their monocrystalline structure. According to optical spectroscopy data, the reliable plasmonic properties in the ambient atmosphere are preserved for up to 39 days. The mapping of crystal violet dye via surface-enhanced Raman spectroscopy (SERS) revealed a strong amplification factor sustaining at least thrice as long as the one of similarly sized polycrystalline silver NPs formed by annealing. The plasmonic properties sustain more than a month of storage in the ambient atmosphere. Thus, ion-beam modification of silver film makes it possible to fabricate NPs with stable plasmonic properties and form clusters of NPs for sensor technology and SERS applications.

ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation

BackgroundDubin-Johnson syndrome (DJS), a rare autosomal recessive liver condition, is caused by biallelic loss-of-function mutations of the ABCC2 gene. This study aimed to investigate genetic variations in the drug efflux...

Generating operators of symmetry breaking—From discrete to continuous

Based on the “generating operator” of the Rankin–Cohen brackets introduced in Kobayashi–Pevzner [arXiv:2306.16800], we present a method to construct various fundamental operators with continuous parameters such as invariant trilinear forms on infinite-dimensional representations, the Fourier and the Poisson transforms on the anti-de Sitter space, and integral symmetry breaking operators for the fusion rules, among others, out of a countable set of differential symmetry breaking operators.