Role of Probiotics in the Management of Patients with Ulcerative Colitis and Pouchitis.

Acute severe ulcerative colitis (ASUC) often requires surgical intervention, such as proctocolectomy with ileal pouch-anal anastomosis (IPAA). While IPAA improves patient outcomes, it can be associated with pouchitis, a common and debilitating complication characterized by inflammation of the pouch. The development of pouchitis is closely linked to dysbiosis-an imbalance in the gut microbiota.

Can Gut Microbiota Analysis Reveal Infection? Evidence from an Italian Cohort at Disease Onset.

A diverse and well-functioning gut microbiota normally serves as a protective shield against the invasion of harmful bacteria or the proliferation of opportunistic pathogens. infection (CDI) is predominantly associated with the overuse of antibiotics, resulting in a significant alteration in the gut's microbial balance. Unfortunately, the lack of global standardization does not allow for the identification of a set of biomarkers associated with the onset and progression of this disease.

HERVs Endophenotype in Autism Spectrum Disorder: Human Endogenous Retroviruses, Specific Immunoreactivity, and Disease Association in Different Family Members.

Increasing evidence indicates that human endogenous retroviruses (HERVs) are important to human health and are an underexplored component of many diseases. Certain HERV families show unique expression patterns and immune responses in autism spectrum disorder (ASD) patients compared to healthy controls, suggesting their potential as biomarkers. Despite these interesting findings, the role of HERVs in ASD needs to be further investigated.

Interface Acoustic Waves in 128° YX-LiNbO/SU-8/Overcoat Structures.

The propagation of interface acoustic waves (IAWs) in 128° YX-LiNbO/SU-8/overcoat structures was theoretically studied and experimentally investigated for different types of overcoat materials and thicknesses of the SU-8 adhesive layer. Three-dimensional finite element method analysis was performed using Comsol Multiphysics software to design an optimized multilayer configuration able to achieve an efficient guiding effect of the IAW at the LiNbO/overcoat interface. Numerical analysis results showed the following: (i) an overcoat faster than the piezoelectric half-space ensures that the wave propagation is confined mainly close to the surface of the LiNbO, although with minimal scattering in the overcoat; (ii) the presence of the SU-8, in addition to performing the essential function of an adhesive layer, can also promote the trapping of the acoustic energy toward the surface of the piezoelectric substrate; and (iii) the electromechanical coupling efficiency of the IAW is very close to that of the surface acoustic wave (SAW) along the bare LiNbO half-space.

Editorial for the Special Issue on Micromachined Acoustic Transducers for Audio-Frequency Range.

Microelectromechanical systems (MEMS) refer to miniaturized mechanical and electro-mechanical elements that are fabricated through microelectronic processes [...

A Concise Review of Recent Advancements in Carbon Nanotubes for Aerospace Applications.

Carbon nanotubes (CNTs) have attracted significant attention in the scientific community and in the industrial environment due to their unique structure and remarkable properties, including mechanical strength, thermal stability, electrical conductivity, and chemical inertness. Despite their potential, large-scale applications have been limited by challenges such as high production costs and catalyst contamination. In aerospace applications, CNTs have demonstrated considerable promise either in the form of thin layers or as reinforcements in polymer and metal matrices, where they enhance mechanical, thermal, and electromagnetic performance in lightweight composites.

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated.

DNA Damage Response Mutants Challenged with Genotoxic Agents-A Different Experimental Approach to Investigate the and Genes.

DNA damage response (DDR) is a highly conserved and complex signal transduction network required for preserving genome integrity. DNA repair pathways downstream of DDR include the tyrosyl-DNA phosphodiesterase1 (TDP1) enzyme that hydrolyses the phosphodiester bond between the tyrosine residue of topoisomerase I (TopI) and 3'-phosphate end of DNA. A small TDP1 subfamily, composed of TDP1α and TDP1β, is present in plants.

Genomic Rewilding of Domestic Animals: The Role of Hybridization and Selection in Wolfdog Breeds.

: The domestication of the grey wolf () and subsequent creation of modern dog breeds have significantly shaped the genetic landscape of domestic canines. This study investigates the genomic effects of hybridization and breeding management practices in two hybrid wolfdog breeds: the Czechoslovakian Wolfdog (CSW) and the Saarloos Wolfdog (SAW). : We analyzed the genomes of 46 CSWs and 20 SAWs, comparing them to 12 German Shepherds (GSHs) and 20 wolves (WLFs), which served as their ancestral populations approximately 70-90 years ago.

Hallmarks of DNA Damage Response in Germination Across Model and Crop Species.

DNA damage response (DDR) contributes to seed quality by guarding genome integrity in the delicate phases of pre- and post-germination. As a key determinant of stress tolerance and resilience, DDR has notable implications on the wider scale of the agroecosystems challenged by harsh climatic events. The present review focuses on the existing and documented links that interconnect DDR efficiency with an array of molecular hallmarks with biochemical, molecular, and physiological valence within the seed metabolic networks.

Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.

Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors can affect the expressivity and penetrance of the disease.

ADAR Therapeutics as a New Tool for Personalized Medicine.

In the field of RNA therapy, innovative approaches based on adenosine deaminases acting on RNA (ADAR)-mediated site-directed RNA editing (SDRE) have been established, providing an exciting opportunity for RNA therapeutics. ADAR1 and ADAR2 enzymes are accountable for the predominant form of RNA editing in humans, which involves the hydrolytic deamination of adenosine (A) to inosine (I). This inosine is subsequently interpreted as guanosine (G) by the translational and splicing machinery because of their structural similarity.

Hypertrophic Cardiomyopathy: New Clinical and Therapeutic Perspectives of an "Old" Genetic Myocardial Disease.

Since its first pathological description over 65 years ago, hypertrophic cardiomyopathy (HCM), with a worldwide prevalence of 1:500, has emerged as the most common genetically determined cardiac disease. Diagnostic work-up has dramatically improved over the last decades, from clinical suspicion and abnormal electrocardiographic findings to hemodynamic studies, echocardiography, contrast-enhanced cardiac magnetic resonance, and genetic testing. The implementation of screening programs and the use of implantable cardioverter defibrillators (ICDs) for high-risk individuals have notably reduced arrhythmic sudden deaths, altering the disease's mortality profile.

22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.

22q11.2 is a region prone to chromosomal rearrangements due to the presence of eight large blocks of low-copy repeats (LCR22s). The 3 Mb 22q11.

Liquid Biopsy and Challenge of Assay Heterogeneity for Minimal Residual Disease Assessment in Colon Cancer Treatment.

This review provides a comprehensive overview of the evolving role of minimal residual disease (MRD) for patients with Colon Cancer (CC). Currently, the standard of care for patients with non-metastatic CC is adjuvant chemotherapy (ACT) for all patients with stage III and high-risk stage II CC following surgical intervention. Despite a 5-20% improvement in long-term survival outcomes, this approach also results in a significant proportion of patients receiving ACT without any therapeutic benefit and being unnecessarily exposed to the risks of secondary side effects.

Expanding the Molecular Spectrum of Missense Variants: Clinical Insights and Literature Review.

Background/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.

Pan-Cancer Upregulation of the Transcription Factor.

Background: The human transcription factor controls cell cycle progression and genome stability, and it has been correlated to the onset and progression of many tumor types.

Methods: In our study, we collected all recent sequence and quantitative transcriptomics data about , testing its presence across vertebrate evolution and its upregulation in cancer, both in bulk tissue contexts (by comparing the TCGA tumor dataset and the GTEx normal tissue dataset) and in single-cell contexts.

Results: is significantly and consistently upregulated in all tested tumor types, as well as in tumor cells within a cancer microenvironment.

Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern.

: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosaicism may modulate the clinical course of the disease. Mosaicism is characterized by a few cell populations with different genomes.

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Background/objectives: Artificial intelligence and large language models like ChatGPT and Google's Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini's potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders.

Methods: By analyzing the model's performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a valuable adjunct in neurogenetic assessments.

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.

Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.

Metallothionein-1A (MT1A) Gene Variability May Play a Role in Female Frailty: A Preliminary Study.

Background/objectives: Frailty is a complex geriatric syndrome resulting in decreased physiological reserve. While genetics plays a role, the underlying mechanisms remain unsolved. Metallothioneins (MTs), metal-binding proteins with high affinity for zinc, an essential mineral for many physiological functions, are involved in processes including oxidative stress and inflammation.

Hypoxia-Inducible Factor in Renal Cell Carcinoma: From Molecular Insights to Targeted Therapies.

Mutations of the von Hippel-Lindau () tumor suppressor gene occur frequently in clear cell renal cell carcinoma (RCC), the predominant histology of kidney cancer, and have been associated with its pathogenesis and progression. Alterations of lead to impaired degradation of hypoxia-inducible factor 1α (HIF1α) and HIF2α promoting neoangiogenesis, which is pivotal for cancer growth. As such, targeting the VHL-HIF axis holds relevant potential for therapeutic purposes.

An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.

Background: Despite advances in uveal melanoma (UM) diagnosis and treatment, about 50% of patients develop distant metastases, thereby displaying poor overall survival. Molecular profiling has identified several genetic alterations that can stratify patients with UM into different risk categories. However, these genetic alterations are currently dispersed over multiple studies and several methodologies, emphasizing the need for a defined workflow that will allow standardized and reproducible molecular analyses.

Transcriptomic-Based Identification of miR-125a Novel Targets in Human Hepatocarcinoma Cells.

Hepatocellular carcinoma (HCC) is among the most aggressive and lethal human tumors. Many functional studies have demonstrated the role of non-coding RNAs (ncRNA), particularly microRNAs (miRNA), in the regulation of hepatocarcinogenesis driving pathways. MiR-125a-5p (miR-125a) has been consistently reported as an oncosuppressive miRNA, as demonstrated in vivo and in vitro.

Remodeling of Mitochondria-Endoplasmic Reticulum Contact Sites Accompanies LUHMES Differentiation.

Neural progenitor cells (NPCs) are often used to study the subcellular mechanisms underlying differentiation into neurons in vitro. Works published to date have focused on the pathways that distinguish undifferentiated NPCs from mature neurons, neglecting the earlier and intermediate stages of this process. Current evidence suggests that mitochondria interaction with the ER is fundamental to a wide range of intracellular processes.