Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.

Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.

Variation in the surgical management of complicated diverticulitis: a cross-sectional study of European surgeons.

Introduction: There are many options for the surgical management of complicated diverticulitis, and standards vary widely despite international practice recommendations. We conducted a survey to capture the variation in practice across Europe.

Methods: An online questionnaire was distributed to fellow and surgeon members of the European Association of Endoscopic Surgery (EAES) via email using the Opinio survey platform.

A Simple Way to Exclude a Lethal Complication Following Atrial Fibrillation Radiofrequency Ablation: A Case Report.

Esophageal injury is a serious complication following atrial fibrillation catheter ablation procedures. It may manifest as atrio-esophageal fistula, pericardio-esophageal fistula (PEF), or restricted perforation, with high mortality rate if left unoperated. Chest computed tomography with intravenous contrast is the mainstay of diagnosis; however, a definite imaging diagnosis is often delayed and may worsen patient outcomes.

Accuracy of the Imageless Mode of the ROSA Robotic System for Targeted Resection Thickness in Total Knee Arthroplasty: A Prospective, Single Surgeon Case-Series Study.

Background: We investigated the accuracy of targeted resection thickness in patients undergoing primary Total Knee Arthroplasty (TKA) using the ROSA robotic system.

Methods: Calliper measurements of the distal femur (DF), proximal tibia (PT), and posterior condyles (PC) were taken in 44 patients from June 2023 to January 2024.

Results: Planned and actual resection depth difference was 0.

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10th Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.

Accuracy of Controlled Attenuation Parameter for Liver Steatosis in High-Risk Patients for MASLD Using MRI-Proton Density Fat Fraction as Reference Standard.

Aim: Controlled attenuation parameter (CAP) enables the noninvasive diagnosis of liver steatosis. Magnetic resonance imaging proton density fat fraction (MRI-PDFF) is increasingly used over biopsy for the assessment of steatosis in patients at risk for metabolic dysfunction-associated steatotic liver disease (MASLD). We assessed the accuracy of CAP for liver steatosis defined as MRI-PDFF ≥ 5%.

External Fixation of Clavicle Fractures with Comminution or in Highly Active Patients.

Conservative treatment of clavicle fractures has the disadvantage of substantial pain and discomfort, whereas internal fixation of these fractures has a high rate of non-union. External fixation is an alternative method permitting early mobilization without disrupting the surrounding soft tissue envelope. These are extremely beneficial in young, athletic and highly functional patients as well as in patients with comminuted fractures.

A worldwide assessment of the mechanical ventilation in patients with acute exacerbations of chronic obstructive pulmonary disease. Analysis of the VENTILAGROUP over time. A retrospective, multicenter study.

Background: The trend over time and across different geographical areas of outcomes and management with noninvasive ventilation or invasive mechanical ventilation in patients admitted for acute exacerbations of chronic obstructive pulmonary disease and treated with ventilatory support is unknown. The purpose of this study was to describe outcomes and identify variables associated with survival for patients admitted to an intensive care unit (ICU) with acute exacerbation of chronic obstructive pulmonary disease [aeCOPD] who received noninvasive or invasive mechanical ventilation worldwide.

Methods: Retrospective, multi-national, and multicenter studies, including four observational cohort studies, were carried out in 1998, 2004, 2010, and 2016 for the VENTILAGROUP following the same methodology.

Renal survival and treatment of adult patients with Primary Focal Segmental glomerulosclerosis: A historical cohort study of the National Greek Registry.

Background/objective: Primary Focal and Segmental glomerulosclerosis (FSGS) is one of the most common causes of idiopathic nephrotic syndrome. Our aim was to describe a large cohort of patients with primary FSGS, identify risk factors associated with worse renal survival and assess the impact of different immunosuppressive regiments on renal survival.

Methods: This was a historical cohort study of adults who were diagnosed with primary FSGS from March 26, 1982, to September 16, 2020.

Morphometric, Biomechanical and Histologic Assessment of Physiologic Ovine Cervical Intervertebral Disc: An Experimental Study and Brief Literature Review.

The ovine cervical spine model has been established as a representative model of the human cervical spine in the current literature, and is the most commonly used large animal model in studies investigating pathogenesis and treatment strategies for intervertebral disc (IVD) degeneration. However, existing data regarding morphometry, biomechanical profiles and the microscopic features of a physiological ovine cervical IVD remain scarce. Hence, the aim of this study was to perform a multimodal morphometric, biomechanical and histologic evaluation of a normal ovine cervical IVD.

Procedural factors influencing successful coronary sinus reducer implantation for refractory angina: A single-centre experience.

Background: Coronary sinus reducer (CSR) implantation is emerging as a novel effective percutaneous therapy for patients with refractory angina. Limited data exists examining the factors influencing successful CSR implantation. As CSR implantation becomes more widely adopted, a greater understanding of the procedural challenges which operators encounter is required.

Influence of gingival margin height variation on perceived aesthetics following absent maxillary lateral incisor-canine substitution.

Background: Maxillary lateral incisor agenesis is often managed with orthodontic space closure and canine substitution. Anatomic gingival margin heights associated with the maxillary anterior teeth are considered important for achieving aesthetic excellence with space closure, but evidence relating to the perceptions of lay people is poor.

Objectives: This study investigated the influence of gingival margin height variation in the maxillary anterior teeth following orthodontic space closure and canine substitution in the absence of maxillary lateral incisor teeth on perceived aesthetics judged by a lay population.

Characterization of a carbapenemase-producing Klebsiella pneumoniae isolate of a patient in an intensive care unit in Greece: A study of resistome, virulome, and mobilome.

Klebsiella pneumoniae is a major pathogen associated with hospital-acquired infections, particularly those involving multidrug-resistant strains. Carbapenem resistance, often driven by carbapenemases such as KPC, VIM, OXA-48, and NDM, poses a significant challenge in clinical settings. This study reports on K.

Distal radial artery palpability and successful arterial access for coronary angiography: A post-hoc analysis from two randomized trials.

Background: Distal radial artery access (DRA) has been emerged as an alternative for conventional transradial arterial access. While palpation of radial artery is mandatory prior coronary angiography, it remains unknown the clinical impact of palpation in DRA success. Aim of our study is to explore whether the palpability of distal radial artery is linked with higher rates of successful arterial access.

Telemedicine in Alzheimer's disease and other dementias: Where we are?

The prevalence and global health burden of dementia including Alzheimer's disease (AD) is rising, while patients living in remote and underserved areas face significant challenges in reaching specialized care. Telemedicine offers a valuable solution in bridging this widening gap, by providing equal and timely access to tertiary-specialized centers. Accumulating evidence highlights that most parts of the remote neuropsychological and neurological evaluation are feasible, with patients, healthcare professionals and caregivers being generally satisfied with this means of care.

The impact of delay from diagnosis to surgery in endometrial cancer.

Purpose: When oncological waiting lists are prolonged, gynecological oncology units are forced to delay operations, especially for endometrial cancer (EC) due to its good prognosis among gynecological cancers. The aim of this study is to evaluate the impact of delay in the oncological outcomes of these patients.

Methods: This is a retrospective analysis of all women with EC treated in our clinic, 2012-2019.

A pan-European survey of robotic training for gastrointestinal surgery: European Robotic Surgery Consensus (ERSC) initiative.

Background: There has been a recent rapid growth in the adoption of robotic systems across Europe. This study aimed to capture the current state of robotic training in gastrointestinal (GI) surgery and to identify potential challenges and barriers to training within Europe.

Methods: A pan-European survey was designed to account for the opinion of the following GI surgery groups: (i) experts/independent practitioners; (ii) trainees with robotic access; (iii) trainees without robotic access; (iv) robotic industry representatives.