Combined in silico/in vitro approaches for identifying modulators of the activity of the p.Tyr110Cys Carnitine O-Acetyltransferase (CRAT) variant associated to an early onset case of Leigh syndrome.

Carnitine O-acetyltransferase (CRAT) is a crucial enzyme involved in mitochondrial energy metabolism. Alterations in CRAT activity have emerged as significant contributors to the pathogenesis of Leigh syndrome and related mitochondrial disorders. In this study we employed an integrated approach combining in silico docking analysis and virtual screening of chemical libraries with subsequent in vitro validation to identify small molecule modulators of the activity of the wild type (WT) CRAT and the p.

Methods of diagnosis and rehabilitation of dysphagia in patients with spinal cord injury: a systematic review.

Introduction: Latest epidemiological metrics put a global prevalence of 20.6 million people suffering from spinal cord injury (SCI), leading to a burden of functional disability, deterioration in quality of life and reduced life expectancy. A thorough statement of diagnostic methods and treatment protocols for swallowing disorders after SCI stands as a major priority to streamline patient care and cost-sharing.

Is the gene involved in the accumulation of (1,3;1,4)-β-D-glucan in wheats, their wild relatives and their hybrids?

Mixed linkage (1,3;1,4)-β-d-glucan (MLG) is a well-recognized bioactive carbohydrate and dietary fibre with expanding applications in food industry. The MLG are small components of the cell wall of vegetative tissues of cereals synthetized by members of the genes (). Within the family, the has been the major contributor in wheat.

Mixed neuroendocrine non-neuroendocrine tumors: The quest for evidence.

Mixed neuroendocrine non-neuroendocrine neoplasms (MiNENs) are rare mixed tumors containing both neuroendocrine and non-neuroendocrine components that occupy at least 30% of the whole tumor. Biologically, both components appear to derive from an identical cellular precursor undergoing early dual differentiation or late transdifferentiation. While our understanding of MiNENs has improved in recent years, many areas of uncertainty remain.

Long term efficacy and safety profile of dexamethasone intravitreal implant in retinal vein occlusions: a systematic review.

Background/objective: Retinal vein occlusion (RVO) is a common, sight-threatening vascular disorder affecting individuals of all ages, with incidence increasing with age. Due to its complex, multifactorial nature, treating RVO remains a clinical challenge. Currently, treatment strategies include laser photocoagulation (especially for branch RVO), anti-VEGF therapies, and intravitreal corticosteroids.

Analysis of microbiota in black stain of children and its impact on caries risk. A systematic review.

Black stain (BS) is a peculiar discoloration often observed on the teeth of paediatric patients, particularly prevalent in certain populations. This systematic review aims to analyze the composition of the microbiota associated with BS and its potential implications for caries risk. A acomprehensive search was conducted across multiple databases (PubMed, Scopus, Web of Science) to identify relevant studies published up to January 2024.

Multi-criteria decision analysis for monitoring and evaluating soil erosion risk in forest fire-affected areas.

Wildfires lead to socio-economic and environmental impacts. These impacts include hydrological instability, which can cause severe damage, especially where infrastructures are present. Post-rehabilitation measures can be useful in reducing or preventing erosion or hydrogeological risks.

Blueberry-derived exosome like nanovesicles carry RNA cargo into HIEC-6 cells and down-regulate LPS-induced inflammatory gene expression: A proof-of-concept study.

Exosome-like nanovesicles (ELNs) of food origin have received great attention in the last decade, due to the hypothesis that they contain bioactive molecules. ELNs purified from edible species have been shown to be protective and are able to regulate intestinal homeostasis. Despite ELNs being potential rising stars in modern healthy diets and biomedical applications, further research is needed to address underlying knowledge gaps, especially related to the specific molecular mechanism through which they exert their action.

Actigraphy validation in behavioral variant frontotemporal dementia.

Background: Actigraphy is increasingly being used to assess sleep in patients with neurodegenerative diseases. However, information on its accuracy relative to polysomnography (PSG) in this clinical population remains scarce. This study investigates the performance of actigraphy compared to PSG in patients with behavioral variant frontotemporal dementia (bvFTD), which is the leading form of early-onset dementia.

Predictors of delayed hospital discharge after robot-assisted partial nephrectomy: the impact of single-port robotic surgery.

Purpose: To evaluate the predictors of delayed discharge for patients undergoing robot-assisted partial nephrectomy (RAPN) at our Institution since the introduction of the single port (SP) robotic system.

Methods: We performed a retrospective review of our prospectively maintained database of patients undergoing RAPN from September 2020 to August 2024. Patients were categorized by the postoperative day of their discharge: POD1 (single overnight stay) or POD > 1 (more than one night stay).

Guided Bone Regeneration: CGF and PRF Combined With Various Types of Scaffolds-A Systematic Review.

Bone regeneration plays a pivotal role in modern oral surgery, particularly in facilitating successful implant-prosthetic rehabilitation. This systematic review explores the regenerative potential of growth factors, such as platelet-rich fibrin (PRF) and concentrated growth factors (CGFs), when combined with various types of scaffolds in bone augmentation procedures, including guided bone regeneration, split crest, sinus lift (SL), and alveolar ridge preservation. A comprehensive search strategy yielded 18 relevant studies, which were analyzed for bone formation and stabilization outcomes.

A new approach to repair recurrent vescicourethral anastomotic strictures after radical prostatectomy: The use of prerectal access.

Background: Vesicourethral anastomosis stenosis (VUAS) is a well-known complication of prostate cancer treatments, observed in up to 26% of the cases after radical prostatectomy. Conservative management, with single or even repeated transurethral dilation or endoscopic incision of the stenosis, is successful in many cases, but up to 9% of patients are destined to fail after endoscopic treatment. In these cases, a revision of the vesicourethral anastomosis is necessary and can be realized with different surgical approaches.

Effective management of acne fulminans: Two case reports highlighting fluorescent light energy therapy.

Background: Acne vulgaris stands as a prevailing skin condition among adolescents worldwide.

Objectives: The primary aim in addressing acne is to manage it effectively, preventing the occurrence of permanent scarring.

Materials And Methods: This case report outlines the experiences of two adolescent boys grappling with acne fulminans.

Overall impact of tethering and of its symmetric and asymmetric subtypes on early and long-term outcome of transcatheter edge-to-edge repair of significant mitral valve regurgitation.

Background: Tethering is a common condition of the mitral valve apparatus in the presence of significant regurgitation. Its impact on outcomes of transcatheter edge-to-edge repair (TEER) remains poorly characterized.

Methods: We appraised the prevalence, features, procedural details, and outcomes of patients with or without mitral valve tethering in a prospective multicenter observational study.

Beauty and the brain - Investigating the neural and musical attributes of beauty during naturalistic music listening.

Beauty judgments are common in daily life, but rarely studied in cognitive neuroscience. Here, in three studies, we searched for the neural mechanisms of musical beauty using a naturalistic free-listening paradigm applied to behavioral and neuroimaging recordings and validated by experts' judgments. In Study 1, 30 adults continuously rated the perceived beauty of three musical pieces using a motion sensor.

Co-occurring mental health problems in adolescents with ADHD and sleep problems.

Objective: Sleep problems are highly prevalent and impairing in adolescents with ADHD. However, their relation with co-occurring mental health problems is still unclear. This study assessed whether adolescents with ADHD, with and without self-reported sleep problems, differ from each other in co-occurring mental health problems, and whether they differ from adolescents without ADHD.

Microplastic pollution from pellet spillage: Analysis of the Toconao ship accident along the Spanish and Portuguese coasts.

In December 2023, 25 tons of pellets were lost by the Toconao ship in the Northwest Atlantic Ocean in front of the Portuguese coast. In this work, a coastal stretch of 633 km in Asturias and Galicia (Spain) and Northern Portugal was investigated to assess pellets' concentration on 31 beaches. Field surveys were carried out in March 2024 and focused on sampling plastic pellets deposited along the shoreline.

Neurofeedback for Attention-Deficit/Hyperactivity Disorder: A Systematic Review and Meta-Analysis.

Importance: Neurofeedback has been proposed for the treatment of attention-deficit/hyperactivity disorder (ADHD) but the efficacy of this intervention remains unclear.

Objective: To conduct a meta-analysis of randomized clinical trials (RCTs) using probably blinded (ie, rated by individuals probably or certainly unaware of treatment allocation) or neuropsychological outcomes to test the efficacy of neurofeedback as a treatment for ADHD in terms of core symptom reduction and improved neuropsychological outcomes.

Data Sources: PubMed (MEDLINE), Ovid (PsycInfo, MEDLINE, Embase + Embase Classic), and Web of Science, as well as the reference lists of eligible records and relevant systematic reviews, were searched until July 25, 2023, with no language limits.

Hidradenocarcinoma of the Chest With Axillary Lymph Node Metastasis: Report of 2 Cases and Systematic Literature Review of a Breast Cancer Mimicker.

Hidradenocarcinoma (HAC) is a rare malignant neoplasm originating from eccrine sweat glands, often presenting diagnostic challenges because of its resemblance to other malignancies, particularly breast cancer when occurring in the chest region. This report describes 2 cases of HAC with axillary lymph node metastasis, both initially misinterpreted clinically. The first case involved a 63-year-old woman with a sternal mass, near the right breast, initially suspected to be a sebaceous cyst.

Enhancing magnesium-based materials for biomedical applications using an innovative strategy of combined single point incremental forming and bioactive coating.

Background: Magnesium (Mg) and its alloys are promising candidates for biodegradable materials in next-generation bone implants due to their favourable mechanical properties and biodegradability. However, their rapid degradation and corrosion, potentially leading to toxic byproducts, pose significant challenges for widespread use.

Objectives: This study aimed to address the challenges associated with Mg-based materials by thoroughly evaluating the biocompatibility, genotoxicity, and mechanical properties of Mg-based devices manufactured via Single Point Incremental Forming (SPIF).