Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters.

Friedreich ataxia (FRDA) is the most common inherited ataxia, primarily impacting the nervous system and the heart. It is characterized by GAA repeat expansion in the FXN gene, leading to reduced mitochondrial frataxin levels. Previously, we described a family displaying two expanded GAA alleles, not only in the proband affected by late-onset FRDA but also in the younger asymptomatic sister.

Efficacy and safety of Advanced Combination Treatment in immune-mediated inflammatory disease: A systematic review and meta-analysis of randomized controlled trials.

Objectives: Advanced combination treatment (ACT), defined as a combination of at least 2 biologic agents, a biologic agent and an oral small molecule, 2 oral small molecules drug with different mechanisms of action is a proposed strategy to improve outcomes in patients with immune-mediated inflammatory disease (IMID). We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) comparing ACT with monotherapy in patients with select IMIDs.

Methods: Through a systematic literature search, we identified 10 RCTs (n = 1154) comparing ACT with single agent therapy (monotherapy).

Disentangling Neurodegeneration From Aging in Multiple Sclerosis Using Deep Learning: The Brain-Predicted Disease Duration Gap.

Background And Objectives: Disentangling brain aging from disease-related neurodegeneration in patients with multiple sclerosis (PwMS) is increasingly topical. The brain-age paradigm offers a window into this problem but may miss disease-specific effects. In this study, we investigated whether a disease-specific model might complement the brain-age gap (BAG) by capturing aspects unique to MS.

Evaluating AI-Generated informed consent documents in oral surgery: A comparative study of ChatGPT-4, Bard gemini advanced, and human-written consents.

This study evaluates the quality and readability of informed consent documents generated by AI platforms ChatGPT-4 and Bard Gemini Advanced compared to those written by a first-year oral surgery resident for common oral surgery procedures. The evaluation, conducted by 18 experienced oral and maxillofacial surgeons, assessed consents for accuracy, completeness, readability, and overall quality. ChatGPT-4 consistently outperformed both Bard and human-written consents.

Radiomics in radiology: What the radiologist needs to know about technical aspects and clinical impact.

Radiomics represents the science of extracting and analyzing a multitude of quantitative features from medical imaging, revealing the quantitative potential of radiologic images. This scientific review aims to provide radiologists with a comprehensive understanding of radiomics, emphasizing its principles, applications, challenges, limits, and prospects. The limitations of standardization in current scientific production are analyzed, along with possible solutions proposed by some of the referenced papers.

Allergic Rhinitis in Professional Singers: A Monoinstitutional Series.

Objective: In professional singers, allergic rhinitis can lead to dysphonia and alterations in resonance. Each episode of laryngeal inflammation increases the risk of vocal strain or forces singers to cancel performances. This study aimed to analyze differences between allergic and nonallergic professional singers in self-evaluation of voice quality, objective examination of voice, and limitations of professional activities due to voice troubles.

Liver transplantation for primary and secondary liver tumors: Patient-level meta-analyses compared to UNOS conventional indications.

Background And Aims: Liver transplant (LT) for transplant oncology (TO) indications is being slowly adopted worldwide and has been recommended to be incorporated cautiously due to concerns about mid-long-term survival and its impact on the waiting list.

Approach And Results: We conducted 4 systematic reviews of all series on TO indications (intrahepatic cholangiocarcinoma and perihilar cholangiocarcinoma [phCC]) and liver metastases from neuroendocrine tumors (NETs) and colorectal cancer (CRLM) and compared them using patient-level meta-analyses to data obtained from the United Network for Organ Sharing (UNOS) database considering conventional daily-practice indications. Secondary analyses were done for specific selection criteria (Mayo-like protocols for phCC, SECA-2 for CRLM, and Milan criteria for NET).

Profile of antiplatelet regimens for emergent carotid stenting in tandem occlusion. Systematic review and meta-analysis.

Aim: To investigate the optimum antiplatelet therapy regimen (APTR) for emergent carotid artery stenting following mechanical thrombectomy (MT) in stroke patients with tandem occlusion.

Methods: A literature search was performed on Pubmed/OVID/Cochran's CENTRAL database for studies from 2015 to 2022. Patient characteristics, antiplatelet regimen type, mTICI, 90 days-mRS, acute in-stent thrombosis (AIST), mortality, intracranial hemorrhage (ICH), and sample size were recorded.

The Diagnosis and Management of Chronic Constipation in Italy: Results from a Survey Conducted among Italian Gastroenterologists.

Chronic constipation (CC) is one of the most common disorders of gut-brain interaction (DGBI). The management of CC requires specific skills due to its complex and multifactorial pathophysiology and its multistep treatment. The aims of this study were to evaluate the availability and the use of diagnostic tools for CC in Italy and the therapeutic management of CC by Italian gastroenterologists (GEs).

The Role of Tumor Biomarkers in Tailoring the Approach to Advanced Ovarian Cancer.

Growing evidence has demonstrated the role of mutations of tumor biomarkers in diagnosing and treating epithelial ovarian cancer. This review aims to analyze recent literature on the correlation between tumor biomarkers and chemotherapy in nonmucinous ovarian cancer, providing suggestions for personalized treatment approaches. An extensive literature search was conducted to identify relevant studies and trials.

Different Oxidative Stress and Inflammation Patterns of Diseased Left Anterior Descending Coronary Artery versus Internal Thoracic Artery.

Background: Oxidative stress and inflammation are typically implied in atherosclerosis pathogenesis and progression, especially in coronary artery disease (CAD). Our objective was to investigate the oxidative stress and inflammation burden directly associated with atherosclerotic plaque in patients with stable coronary disease undergoing coronary artery bypass graft (CABG) surgery. Specifically, markers of oxidative stress and inflammation were compared in blood samples obtained from the atherosclerotic left anterior descending artery (LAD) and blood samples obtained from the healthy left internal thoracic artery (LITA), used as a bypass graft, within the same patient.

Optimized Calcium Hydroxylapatite Formulation and Its Injection Technique for Hand Rejuvenation: A Retrospective Study.

Introduction: Hand rejuvenation treatment is in high demand in cosmetic medicine. Radiesse®, a commercially available formulation of calcium hydroxylapatite (CaHA), is safe, biocompatible, and provides long-lasting results.

Objective: The study aimed to retrospectively evaluate the efficacy and safety of the presented formulation of Radiesse® and its injection procedure.

Narrative review: nutritional strategies for ageing populations - focusing on dysphagia and geriatric nutritional needs.

The increase in elderly populations worldwide highlights the urgency of addressing age-related problems through effective nutritional management to enhance the well-being of the elderly and for the prevention and treatment of various diseases. The trend towards an increasing elderly population brings with it an increase in conditions such as sarcopenia, osteosarcopenia and frailty, emphasising the importance of regular checks for malnutrition in the elderly and the implementation of personalised nutritional therapies. The importance of nutrition in addressing geriatric syndromes such as frailty, sarcopenia, osteosarcopenia, obesity and metabolic syndrome is highlighted.

Cerebrospinal Fluid and Peripheral Blood Lymphomonocyte Single-Cell Transcriptomics in a Subject with Multiple Sclerosis Acutely Infected with HIV.

Signatures of neurodegeneration in clinical samples from a subject with multiple sclerosis (MS) acutely infected with HIV were investigated with single-cell transcriptomics using 10X Chromium technology. Sequencing was carried out on NovaSeq-TM, and the analysis was performed with Cell Ranger software (v 7.1.

Laparoscopic prediction of primary cytoreducibility of epithelial ovarian cancer.

Ovarian cancer affects thousands of women every year and represents the female cancer with the highest mortality rate. Effectively, it is a severe disease that requires a multidisciplinary approach for optimal treatment. Surgery currently is the cornerstone of its treatment and numerous methods have been analyzed and developed to predict the possibility of obtaining a residual tumor of 0 (RT=0).

Efficacy in patients with -positive non-small-cell lung cancer treated with dacomitinib who had skin adverse events: analyses from ARCHER 1050.

We investigated association between skin adverse events (AEs) and efficacy with dacomitinib in patients with -positive non-small-cell lung cancer (NSCLC). analyses from ARCHER 1050 evaluated efficacy in patients who did and did not experience grade ≥2 skin AEs with dacomitinib. Landmark analyses were performed at 3 and 6 months.