Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.

Neurodegenerative diseases present complex genetic architectures, reflecting a continuum from monogenic to oligogenic and polygenic models. Recent advances in multi-omics data, coupled with systems genetics, have significantly refined our understanding of how these data impact neurodegenerative disease mechanisms. To contextualize these genetic discoveries, we provide a comprehensive critical overview of genetic architecture concepts, from Mendelian inheritance to the latest insights from oligogenic and omnigenic models.

Shedding light on DNA methylation and its clinical implications: the impact of long-read-based nanopore technology.

DNA methylation is an essential epigenetic mechanism for regulation of gene expression, through which many physiological (X-chromosome inactivation, genetic imprinting, chromatin structure and miRNA regulation, genome defense, silencing of transposable elements) and pathological processes (cancer and repetitive sequences-associated diseases) are regulated. Nanopore sequencing has emerged as a novel technique that can analyze long strands of DNA (long-read sequencing) without chemically treating the DNA. Interestingly, nanopore sequencing can also extract epigenetic status of the nucleotides (including both 5-Methylcytosine and 5-hydroxyMethylcytosine), and a large variety of bioinformatic tools have been developed for improving its detection properties.

Effectiveness of 8-week Treatment with Glecaprevir/Pibrentasvir in Treatment-naïve or -experienced HCV Patients: Results from an Observational Retrospective Study in Real-life Settings (ODYSSEY).

Background And Aims: Pan-genotypic ribavirin-free oral direct-acting antivirals, including the glecaprevir/pibrentasvir combination, are recommended for the treatment of most patients with chronic hepatitis C virus (HCV) infection. In Romania, the HCV-infected patient population receiving glecaprevir/pibrentasvir is not well characterized and data on treatment effectiveness is lacking. The ODYSSEY study aimed to provide insights into the characteristics and treatment outcomes of HCV-infected Romanian patients receiving 8-week therapy with glecaprevir/pibrentasvir.

Addressing the role of surgery in brain tumour trials: A report from the neurosurgery committee of the EORTC brain tumour group.

The Brain Tumor Group (BTG) of the European Organization for Research and Treatment of Cancer (EORTC) conducts academic clinical trials and translational research to improve clinical management of patients with primary and secondary brain tumors. The EORTC BTG has traditionally played an important role in providing evidence and thus advancing the field, albeit with a main focus on radiotherapy and pharmacotherapy in gliomas. Although examples of well-designed neuro-oncological surgical trials can be found, evidence in surgical neuro-oncology predominantly includes data from uncontrolled prospective series or retrospective cohorts.

Cannabidiol Supplements in Romania: Bridging the Gap Between Marketed Claims and Clinical Reality.

In recent years, the European market, including Romania, has witnessed a significant increase in the promotion of cannabidiol (CBD)-based products, often presented as effective treatments for various health conditions. This study investigates the inconsistencies between the health claims associated with these supplements and the evidence from clinical trials. To identify products available on the Romanian market, a systematic review of online pharmacies and websites that specialize in selling CBD-based products has been performed.

Enhanced Metabolic Control in a Pediatric Population with Type 1 Diabetes Mellitus Using Hybrid Closed-Loop and Predictive Low-Glucose Suspend Insulin Pump Treatments.

Background: Insulin pumps coupled with continuous glucose monitoring sensors use algorithms to analyze real-time blood glucose levels. This allows for the suspension of insulin administration before hypoglycemic thresholds are reached or for adaptive tuning in hybrid closed-loop systems. This longitudinal retrospective study aims to analyze real-world glycemic outcomes in a pediatric population transitioning to such devices.

3D Bioprinting in Limb Salvage Surgery.

With the development of 3D bioprinting and the creation of innovative biocompatible materials, several new approaches have brought advantages to patients and surgical teams. Increasingly more bone defects are now treated using 3D-bioprinted prostheses and implementing new solutions relies on the ability of engineers and medical teams to identify methods of anchoring 3D-printed prostheses and to reveal the potential influence of bioactive materials on surrounding tissues. In this paper, we described why limb salvage surgery based on 3D bioprinting is a reliable and effective alternative to amputations, and why this approach is considered the new standard in modern medicine.

Hemogram-Based Phenotypes of the Immune Response and Coagulopathy in Blunt Thoracic Trauma.

: Blunt thoracic trauma possesses unique physiopathological traits due to the complex interaction of immune and coagulation systems in the lung tissue. Hemogram-based ratios such as neutrophil-to-lymphocyte (NLR), platelet-to-lymphocyte (PLR), neutrophil-to-lymphocyte × platelet (NLPR) ratios have been studied as proxies for immune dysregulation and survival in trauma. We hypothesized that blunt thoracic trauma patients exhibit distinct patterns of coagulation and inflammation abnormalities identifiable by the use of readily available hemogram-derived markers.

Robotic-Assisted Medial Unicompartmental Knee Arthroplasty Provides Better FJS-12 Score and Lower Mid-Term Complication Rates Compared to Conventional Implantation: A Systematic Review and Meta-Analysis.

: Robotic-assisted unicompartmental arthroplasty (rUKA) is gradually gaining more popularity than its conventional counterpart (cUKA). Current studies are highly heterogenic in terms of methodology and the reported results; therefore, establishing the optimal recommendation for patients becomes less straightforward. For this reason, this meta-analysis aims to provide an up-to-date evidence-based analysis on current evidence regarding clinical outcomes and complication rates following rUKA and cUKA.

Incorporation of a Comorbidity Index in Treatment Decisions for Elderly AML Patients Can Lead to Better Disease Management-A Single-Center Experience.

Acute myeloid leukemia (AML) is a form of cancer originating from precursor cells within the bone marrow. Elderly patients with acute leukemia require a personalized approach, considering age, performance status, and comorbidities, to determine suitability for intensive treatment. We studied the results of intense chemotherapy in 46 elderly, fit individuals with AML at a cancer center in Romania from January 2017 to December 2023.

Bridging the Gap: Supplements Strategies from Experimental Research to Clinical Applications in Sarcopenic Obesity.

Obesity causes fat accumulation, and sarcopenia causes loss of muscle mass and strength; together, they worsen insulin resistance and accelerate muscle decline, creating a harmful cycle. Some supplements, along with physical exercise, could be remedies for sarcopenic obesity (SO). In this review, we aim to draw a comparison between supplements studied in experimental research and those evaluated in clinical studies for SO.

Measuring Speech Intelligibility with Romanian Synthetic Unpredictable Sentences in Normal Hearing.

Background/objectives: Understanding speech in background noise is a challenging task for listeners with normal hearing and even more so for individuals with hearing impairments. The primary objective of this study was to develop Romanian speech material in noise to assess speech perception in diverse auditory populations, including individuals with normal hearing and those with various types of hearing loss. The goal was to create a versatile tool that can be used in different configurations and expanded for future studies examining auditory performance across various populations and rehabilitation methods.

Fixed Full-Arch Implant-Supported Restorations: Techniques Review and Proposal for Improvement.

Full-arch zirconia restorations on implants have gained popularity due to zirconia's strength and aesthetics, yet they are still associated with challenges like structural fractures, peri-implant complications, and design misfits. Advances in CAD/CAM and digital workflows offer potential improvements, but a technique that consistently addresses these issues in fixed, full-arch, implant-supported prostheses is needed. This novel technique integrates a facially and prosthetically driven treatment approach, which is divided into three phases: data acquisition, restoration design, and manufacturing/delivery.

Relative effectiveness of the second booster COVID-19 vaccines against laboratory confirmed SARS-CoV-2 infection in healthcare workers: VEBIS HCW VE cohort study (1 October 2022-2 May 2023).

Introduction: Repeated COVID-19 booster vaccination was recommended in healthcare workers (HCWs) to maintain protection. We measured the relative vaccine effectiveness (rVE) of the second booster dose of COVID-19 vaccine compared to the first booster, against laboratory-confirmed SARS-CoV-2 infection in HCWs.

Methods: In a prospective cohort study among HCWs from 12 European hospitals, we collected nasopharyngeal or saliva samples at enrolment and during weekly/fortnightly follow-up between October 2022 and May 2023.

Epileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities.

Objective: To investigate the frequency of epileptiform discharges associated with self-limited focal epilepsy (EDSelFEC) in children who have undergone a hemispherotomy and to evaluate whether patients with coexistence of EDSelFEC and structural hemispheric epilepsies differ from patients without coexistence of EDSelFEC and whether there are differences between the two groups with regard to preoperative management and postoperative outcome.

Methods: Data on 131 children who underwent a hemispherotomy between January 1999 and January 2015 were retrieved from the Epilepsy center's epilepsy surgery database. Children with EDSelFEC were compared with children without EDSelFEC with respect to epileptogenic hemispheric pathology, family history, age at epilepsy onset, timing of surgery, lesion laterality, preoperative cognitive function, response to sodium channel blocker antiepileptic medication, and surgical outcome.

Ictal semiology in temporo-frontal epilepsy: A systematic review and meta-analysis.

We performed a systematic review of the ictal semiology of temporo-frontal seizures with the aim to summarize the state-of-the-art anatomo-clinical correlations in the field, and help guide the interpretation of ictal semiology within the framework of presurgical evaluation. We conducted the systematic review and meta-analysis, and reported its results according to the Preferred Reporting Items for Systematic Review and Meta-Analysis statement. We searched electronic databases (Scopus, PUBMED, Web of Science, and EMBASE) using relevant keywords related to temporal, frontal and sublobar structures, semiology, and electroencephalography/stereoelectroencephalography exploration.

Predictive Factors for Cut-Out Risks of Unstable Trochanteric Fractures.

Fractures of the trochanteric mass represent a significant proportion of hip fractures. These fractures often occur in the elderly due to compromised bone quality, leading to a high predisposition for instability at the fracture site. The study was conducted through a retrospective analysis of 1,259 hospitalizations in the Department of Orthopedics and Traumatology of the Bucharest University Emergency Hospital between 2022 and 2023, including patients with various types of trochanteric mass fractures: basicervical, per trochanteric, intertrochanteric, subtrochanteric, and trochanter-diaphyseal fractures.

Deciphering the Complexity of the Immune Cell Landscape in Kidney Allograft Rejection.

While the Banff classification dichotomizes kidney allograft rejection based on the localization of the cells in the different compartments of the cortical kidney tissue [schematically interstitium for T cell mediated rejection (TCMR) and glomerular and peritubular capillaries for antibody-mediated rejection (AMR)], there is a growing evidences that subtyping the immune cells can help refine prognosis prediction and treatment tailoring, based on a better understanding of the pathophysiology of kidney allograft rejection. In the last few years, multiplex IF techniques and automatic counting systems as well as transcriptomics studies (bulk, single-cell and spatial techniques) have provided invaluable clues to further decipher the complex puzzle of rejection. In this review, we aim to better describe the inflammatory infiltrates that occur during the course of kidney transplant rejection (active AMR, chronic active AMR and acute and chronic active TCMR).

Techniques for otosclerosis surgery: Ear surgery from the microscope to the endoscope - A literature review.

Stapes surgery is the gold standard for managing otosclerosis. It has become increasingly appreciated to perform endoscopic ear surgery worldwide as the field of endoscopy expands. In basic terms, a stapes surgery intends to restore ossicular mobility and therefore improve sound energy transduction into the inner ear, thereby improving communication and sound amplification and bringing hearing levels back to acceptable levels.

Predictors and Prevalence of Severe Obstructive Sleep Apnea: A Cross-Sectional Study in Erbil, Kurdistan Region, Iraq.

Background Obstructive sleep apnea (OSA) is a common sleep disorder that's characterized by episodes of a complete or partial collapse of the upper airway with an associated decrease in oxygen saturation or arousal from sleep. According to the American Academy of Sleep Medicine (AASM), OSA is categorized based on polysomnography findings into mild, moderate, and severe. Objectives This study aims at determining the prevalence of the severities of OSA in Erbil, Kurdistan Region of Iraq, as well as discovering the predictors for severe OSA.

Advancing user-centric design and technology adoption for aging populations: a multifaceted approach.

The global demographic shift toward an aging population necessitates a nuanced approach to developing and adopting assistive technologies tailored for older adults. This paper synthesizes key challenges, strategies, and recommendations identified in addressing the complex landscape of technology adoption and usage among aging populations. User-centric design and co-creation initiatives are vital for developing assistive technologies that meet the needs of older adults.