Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy platform.

Objective: To evaluate the technical accuracy, inheritance, and pathogenicity of small copy number variants (CNVs) detected by a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) platform.

Design: Retrospective observational study performed between 2020 and 2022.

Setting: Clinic.

Profiling and assessing the risks of image- and performance-enhancing drugs use during the COVID-19 lockdown.

Background: Image and Performance-Enhancing Drugs (IPEDs) can enhance mental and physical capabilities and impact one's overall health. Initially confined in sport environments, IPEDs use has become increasingly widespread in a high-performing society. The present study was aimed at profiling IPEDs use during the COVID-19 lockdown among an international sample of young adults.

The Role of Physical Exercise as a Therapeutic Tool to Improve Lipedema: A Consensus Statement from the Italian Society of Motor and Sports Sciences (Società Italiana di Scienze Motorie e Sportive, SISMeS) and the Italian Society of Phlebology (Società Italiana di Flebologia, SIF).

Purpose Of Review: This consensus statement from the Italian Society of Motor and Sports Sciences (Società Italiana di Scienze Motorie e Sportive, SISMeS) and the Italian Society of Phlebology (Società Italiana di Flebologia, SIF) provides the official view on the role of exercise as a non-pharmacological approach in lipedema. In detail, this consensus statement SISMeS - SIF aims to provide a comprehensive overview of lipedema, focusing, in particular, on the role played by physical exercise (PE) in the management of its clinical features.

Recent Findings: Lipedema is a chronic disease characterized by abnormal fat accumulation.

Solute Transporter OCTN1/Slc22a4 Affects Disease Severity and Response to Infliximab in Experimental Colitis: Role of Gut Microbiota and Immune Modulation.

Background: Inflammatory bowel diseases are chronic disabling conditions with a complex and multifactorial etiology, still incompletely understood. OCTN1, an organic cation transporter, could have a role in modulating the inflammatory response, and some genetic polymorphisms of this molecule have been associated with increased risk of inflammatory bowel diseases. Until now, limited information exists on its potential in predicting/modulating patient's response to therapies.

Staphylococcus pseudintermedius and Pseudomonas aeruginosa Lubbock Chronic Wound Biofilm (LCWB): a suitable dual-species model for in vitro studies.

Antimicrobial treatment of methicillin-resistant Staphylococcus pseudintermedius associated with canine wounds represents an important challenge. The aim of this study was to create a canine wound infection model, Lubbock Chronic Wound Biofilm (LCWB), with a focus on S. pseudintermedius, drawing inspiration from the established human model involving Staphylococcus aureus.

Improved anti-breast cancer activity by doxorubicin-loaded super stealth liposomes.

PEGylation is currently used for the synthesis of stealth liposomes and to enhance the pharmacokinetic and biopharmaceutical properties of payloads. PEGylated dendron phospholipids can decrease the detachment of polyethylene glycol (PEG) from the liposomal surface owing to an increased hydrophobic anchoring effect on the phospholipid bilayer of liposomes and thus generating super stealth liposomes that are suitable for the systemic delivery of anticancer drugs. Herein, doxorubicin hydrochloride-loaded super stealth liposomes were studied for the treatment of breast cancer lung metastasis in an animal model.

Predictive Prognostic Factors in Non-Calcific Supraspinatus Tendinopathy Treated with Focused Extracorporeal Shock Wave Therapy: An Artificial Neural Network Approach.

The supraspinatus tendon is one of the most involved tendons in the development of shoulder pain. Extracorporeal shockwave therapy (ESWT) has been recognized as a valid and safe treatment. Sometimes the symptoms cannot be relieved, or a relapse develops, affecting the patient's quality of life.

Assessing Mineral Content and Heavy Metal Exposure in Abruzzo Honey and Bee Pollen from Different Anthropic Areas.

Honey and bee pollen offer potential health benefits due to their nutrient and bioactive molecules, but they may also harbor contaminants such as heavy metals. This study aimed to assess the content of different metals, including Mg, Al, K, Ca, V, Cr, Mn, Fe, Co, Ni, Zn, Cu, As, Rb, Sr, Cd, Cs, Tl, Pb and U, in honey and bee pollen collected from different Abruzzo region (Italy) areas (A1, A2, A3, A4), characterized by different anthropic influences described by Corine Land Cover maps. Differences were observed in the mineral and heavy metal content associated with the influence of biotic and abiotic factors.

Unraveling the Epigenetic Landscape: Insights into Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple Sclerosis.

Parkinson's disease (PD), multiple sclerosis (MS), and amyotrophic lateral sclerosis (ALS) are examples of neurodegenerative movement disorders (NMDs), which are defined by a gradual loss of motor function that is frequently accompanied by cognitive decline. Although genetic abnormalities have long been acknowledged as significant factors, new research indicates that epigenetic alterations are crucial for the initiation and development of disease. This review delves into the complex interactions that exist between the pathophysiology of NMDs and epigenetic mechanisms such DNA methylation, histone modifications, and non-coding RNAs.

Perampanel in post-stroke epilepsy: Clinical practice data from the PERampanel as Only Concomitant antiseizure medication (PEROC) study.

Introduction: Post-stroke epilepsy (PSE) is one of the most common causes of acquired epilepsy. Nevertheless, there is limited evidence regarding the clinical profile of antiseizure medications (ASMs) in PSE. This study aims to evaluate the 12-month effectiveness and tolerability of perampanel (PER) used as only add-on treatment in patients with PSE in a real-world setting.

Digital matching of palatal rugae patterns for forensic identification in edentulous denture wearers.

Identifying edentulous victims in forensic contexts poses a significant challenge. It has been reported that having a denture to reproduce and compare Palatal Rugae (PR) patterns is crucial for identifying edentulous individuals, yet there are no validated protocols for conducting this procedure. In this study, a new method was developed and validated for plaster molding of the internal surface of upper dentures, along with a protocol involving focus-stacked photographs and reference scales.

Benzenesulfonamide decorated dihydropyrimidin(thi)ones: carbonic anhydrase profiling and antiproliferative activity.

In the last decades, carbonic anhydrases (CAs) have become the top investigated innovative pharmacological targets and, in particular, isoforms IX and XII have been widely studied due to the evidence of their overexpression in hypoxic tumors. The frantic race to find new anticancer agents places the quick preparation of large libraries of putative bioactive compounds as the basis of a successful drug discovery and development programme. In this context, multi-component and, in general, one-step reactions are becoming very popular and, among them, Biginelli's reaction gave clean and easy-to-isolate products.

Emotions in search of words: Does alexithymia predict treatment outcome in chronic musculoskeletal pain?

Chronic pain, with its complex and multidimensional nature, poses significant challenges in identifying effective long-term treatments. There is growing scientific interest in how psychopathological and personality dimensions may influence the maintenance and development of chronic pain. This longitudinal study aimed to investigate whether alexithymia can predict the improvement of pain severity following a treatment-as-usual programme for chronic musculoskeletal pain over and above psychological cofactors (emotional distress, catastrophizing, and self-efficacy).

Changes of brain parenchyma free water fraction reflect tissue damage and impaired processing speed in multiple sclerosis.

Free water fraction (FWF) represents the amount of water per unit volume of brain parenchyma, which is not bound to macromolecules. Its excess in multiple sclerosis (MS) is related to increased tissue loss. The use of mcDESPOT (multicomponent driven single pulse observation of T1 and T2), a 3D imaging method which exploits both the T1 and T2 contrasts, allows FWF to be derived in clinically feasible times.

Novel 2,4-Dichloro-5-sulfamoylbenzoic Acid Oxime Esters: First Studies as Potential Human Carbonic Anhydrase Inhibitors.

In this study, a focused library of oxime ester derivatives of 2,4-dichloro-5-sulfamoylbenzoic acid (lasamide) containing Schiff bases was synthesized and tested for their ability to inhibit the cytosolic human carbonic anhydrases (hCAs) I and II, as well as the transmembrane and tumor-associated IX and XII isoforms. As a result, we obtained a first line of knowledge on lasamide derivatives potentially useful for development as CA inhibitors (CAIs). In particular, we focused our attention on the derivative , which was selective toward hCAs IX and XII over the cytosolic isoenzymes.

Management and Rehabilitative Treatment in Osteoarthritis with a Novel Physical Therapy Approach: A Randomized Control Study.

Knee osteoarthritis (KOA) is a chronic degenerative disease characterized by progressive joint damage leading to significant disability. Although rehabilitative treatment methods for KOA have been widely implemented, the optimal integrated instrumental physical therapy approach remains unclear. Therefore, this study aimed to analyze the effect of Quantum Molecular Resonance (QMR) on pain reduction as the primary outcome and the functional improvement in activity daily living (ADL) as a secondary outcome.

Oral Semaglutide in Routine Clinical Practice: Characteristics of People with Type 2 Diabetes Started on the Drug and Changes in Their Clinical Parameters after 24 Weeks of Treatment.

: Semaglutide is the unique once-daily oral glucagon-like receptor agonist presently available. Aims of this study were to describe clinical characteristics of patients with type 2 diabetes (T2D) initiating oral semaglutide, to assess its effects on glycemic control, body weight (BW) and its tolerability in routine clinical practice. : Electronic medical records from two Italian diabetes clinics were evaluated.

Loss of CFTR Reverses Senescence Hallmarks in SARS-CoV-2 Infected Bronchial Epithelial Cells.

SARS-CoV-2 infection has been recently shown to induce cellular senescence in vivo. A senescence-like phenotype has been reported in cystic fibrosis (CF) cellular models. Since the previously published data highlighted a low impact of SARS-CoV-2 on CFTR-defective cells, here we aimed to investigate the senescence hallmarks in SARS-CoV-2 infection in the context of a loss of CFTR expression/function.

Nicotine-induced Genetic and Epigenetic Modifications in Primary Human Amniotic Fluid Stem Cells.

Background: Smoking during pregnancy has been linked to adverse health outcomes in offspring, but the underlying mechanisms are not fully understood. To date, the effect of maternal smoking has been tested in primary tissues and animal models, but the scarcity of human tissues limits experimental studies. Evidence regarding smoking-related molecular alteration and gene expression profiles in stem cells is still lacking.