Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Complex memories induced by intracranial electrical brain stimulation are related to complex networks.

The precise and fleeting moment of rich recollection triggered by an environmental cue is difficult to reproduce in the lab. However, epilepsy patients can experience sudden reminiscences after intracranial electrical brain stimulation (EBS). In these cases, the transient brain state related to the activation of the engram and its conscious perception can be recorded using intracerebral EEG (iEEG).

Treating Presbyphonia in 2024: A Scoping Review.

Presbyphonia is a multi-dimensional pathology. Therefore, its treatment should address its different affecting factors, including a global health management to fight geriatric frailty, improve overall physical strength, and limit medication side-effects. The specific therapies should address glottal gap closure and vocal folds' pliability.

Identification of a T2-hyperintense Perivascular Space in Brain Arteriovenous Malformations.

Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.

Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.

Prevention of Stroke in Intracerebral Haemorrhage Survivors with Atrial Fibrillation: Rationale and Design for PRESTIGE-AF Trial.

Adequate secondary prevention in survivors of intracerebral hemorrhage (ICH) who also have atrial fibrillation (AF) is a long-standing clinical dilemma because these patients are at increased risk of recurrent ICH as well as of ischemic stroke. The efficacy and safety of oral anticoagulation, the standard preventive medication for ischemic stroke patients with AF, in ICH patients with AF are uncertain. PRESTIGE-AF is an international, phase 3b, multi-center, randomized, open, blinded end-point assessment (PROBE) clinical trial that compared the efficacy and safety of direct oral anticoagulants (DOACs) with no DOAC (either no antithrombotic treatment or any antiplatelet drug).

Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.

Multiciliated cells (MCCs) ensure fluid circulation in various organs. Their differentiation is marked by the amplification of cilia-nucleating centrioles, driven by a genuine cell-cycle variant, which is characterized by wave-like expression of canonical and non-canonical cyclins such as Cyclin O (CCNO). Patients with CCNO mutations exhibit a subtype of primary ciliary dyskinesia called reduced generation of motile cilia (RGMC).

Predictors of conversion to cesarean section in a French cohort of 236 class III (body mass index of 40 or more) obese women attempting vaginal delivery: A restrospective multicentric study.

Background: Due to the global growth of its prevalence and its impact on patient health, obesity is considered a near-epidemic condition by the World Health Organization (WHO). Its overall prevalence has now reached 17 % in France. The impact of obesity is also a concern for pregnant women, due to the risk of maternal and fetal complications.

Professional-patient discrepancies in assessing lung cancer radiotherapy symptoms: An international multicentre study.

Background And Purpose: We investigate discrepancies in the assessment of treatment-related symptoms in lung cancer between healthcare professionals and patients, and factors contributing to these discrepancies.

Materials And Methods: Data from 515 participants in the REQUITE study were analysed. Five symptoms (cough, dyspnoea, bronchopulmonary haemorrhage, chest wall pain, dysphagia) were evaluated both before and after radiotherapy.

Subtypes of brain change in aging and their associations with cognition and Alzheimer's disease biomarkers.

Structural brain changes underlie cognitive changes and interindividual variability in cognition in older age. By using structural MRI data-driven clustering, we aimed to identify subgroups of cognitively unimpaired older adults based on brain change patterns and assess how changes in cortical thickness, surface area, and subcortical volume relate to cognitive change. We tested (1) which brain structural changes predict cognitive change (2) whether these are associated with core cerebrospinal fluid (CSF) Alzheimer's disease biomarkers, and (3) the degree of overlap between clusters derived from different structural modalities in 1899 cognitively healthy older adults followed up to 16 years.

Silent brain infarctions in patients with rheumatic mitral stenosis.

Background: Silent brain infarctions (SBI) are commonly detected in brain imaging. The association of SBI with rheumatic mitral stenosis (MS) is not clearly relevant. Based on magnetic resonance imaging, we aimed to describe the prevalence of SBI in patients with rheumatic MS and the cardiac abnormalities related to their occurrence.

A Prospective Non-interventional Real-World Study of cabozantinib in Pretreated Patients With Advanced Renal Cell Carcinoma Refractory to Vascular Endothelial Growth Factor-Targeted Therapy (CASSIOPE).

Background: There is a lack of published data on real-world cabozantinib use in patients with advanced renal cell carcinoma after prior vascular endothelial growth factor (VEGF)-targeted therapy.

Methods: CASSIOPE was a real-world, prospective, multicenter, non-interventional postauthorization safety study of cabozantinib in adult patients with advanced renal cell carcinoma in Europe following prior VEGF-targeted treatment (NCT03419572). Endpoints included cabozantinib utilization (dose modifications due to adverse events [AEs; primary endpoint], dose, dose modifications, and treatment duration), safety, effectiveness (progression-free survival [PFS], overall survival [OS], best overall response [BOR]), and healthcare resource utilization.

An insight from the default mode network in patients with amnesia following left thalamic infarction involving the mediodorsal nucleus and mammillothalamic tract.

The role of the medial part of the thalamus, and in particular the mediodorsal nucleus (MD) and the mammillothalamic tract (MTT), in memory has long been studied, but their contribution remains unclear. While the main functional hypothesis regarding the MTT focuses on memory, some authors postulate that the MD plays a supervisory executive role (indirectly affecting memory retrieval) due to its dense structural connectivity with the prefrontal cortex (PFC). Recently, it has been proposed that the MD, MTT and PFC form part of the DMN the default mode network (DMN).

Validation of visual analog scales of mood and anxiety at the workplace.

Unlabelled: The Hospital Anxiety and Depression Scale (HADS) is commonly used to detect depressive or anxious states, but its 14-item questionnaire is time-consuming. Visual analog scales (VAS) are easy to use and quick to implement. Although the VAS has been validated to assess pain and occupational stress, VAS scores for anxiety and mood have never been evaluated in the workplace.

SGLT2 expression in human vasculature and heart correlates with low-grade inflammation and causes eNOS-NO/ROS imbalance.

Aims: Sodium-glucose co-transporter 2 inhibitors (SGLT2i) show a cardioprotective effect in heart failure and myocardial infarction, pathologies often associated with low-grade inflammation. This cross-sectional study aims to investigate whether low-grade inflammation regulates SGLT2 expression and function in human vasculature, heart, and endothelial cells (ECs).

Methods And Results: Human internal thoracic artery (ITA), left ventricle (LV) specimens, and cultured porcine coronary artery ECs were used.

HIV prevention and missed opportunities among people with recently acquired HIV infection: Α protocol for a systematic review.

Background: Individuals who have recently acquired HIV represent a unique population because the time frame since HIV acquisition is relatively short and identification of missed HIV prevention opportunities is, therefore, closer to real time and less subject to recall bias. Identifying prevention measures used and missed opportunities for using them, can help stop further HIV transmission.

Objectives: This systematic review aims to synthesise current global evidence on uptake of HIV prevention methods among people with recently acquired HIV from 2007, the year that the concept of ART as a prevention method was first introduced.

The burden of medical contraindications to corneal donation: Time for review.

Corneal graft (keratoplasty) is the most common allograft in the world, but the imbalance between the number of donors and the number of patients waiting for transplants is abysmal on a global scale and varies enormously from one country to another. The risk of transmission of systemic diseases from donor to recipient is demonstrably low. In over 50 years and an estimated 2.

Clinical outcomes by baseline metastases in patients with renal cell carcinoma treated with lenvatinib plus pembrolizumab versus sunitinib: Post hoc analysis of the CLEAR trial.

Lenvatinib plus pembrolizumab significantly improved efficacy versus sunitinib in treatment of advanced renal cell carcinoma (aRCC) in the phase 3 CLEAR study. We report results of an exploratory post hoc analysis of tumor response data based on baseline metastatic characteristics of patients who received lenvatinib plus pembrolizumab versus sunitinib, at the final overall survival analysis time point of CLEAR (cutoff: July 31, 2022). Treatment-naïve adults with aRCC were randomized to: lenvatinib (20 mg PO QD in 21-day cycles) plus pembrolizumab (n = 355; 200 mg IV Q3W); lenvatinib plus everolimus (not reported here); or sunitinib (n = 357; 50 mg PO QD; 4 weeks on/2 weeks off).

Impact of Spatial Representation on the Quality of Prosthodontic Procedures.

Background: The correlation between the three-dimensional spatial representation (3DSR) abilities, specifically involving spatial orientation, spatial visualisation and spatial relationship, and the performance in exercises related to preclinical practical exams in fixed prosthodontics and removable partial denture is not studied.

Objective: Assess the correlation between the 3DSR abilities and the performance in exercises related to preclinical practical exams in fixed prosthodontics and removable partial denture carried out by second and third year dental students.

Materials And Methods: The 3DSR abilities (spatial orientation, spatial visualisation and spatial relationship) and the scores of preclinical practical exams in prosthetics were tested on 187 students.

Systematic literature review and meta-analysis informing the EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.

Background: Targeted therapies have been associated with potential risk of malignancy, which is a common concern in daily rheumatology practice in patients with inflammatory arthritis (IA) and a history of cancer.

Objectives: To perform a systematic literature review to inform a Task Force formulating EULAR points to consider on the initiation of targeted therapies in patients with IA and a history of cancer.

Methods: Specific research questions were defined within the Task Force before formulating the exact research queries with a librarian.

2024 EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.

Background: Potential associations between targeted therapies and a new cancer in patients with inflammatory arthritis (IA) and a previous malignancy are a frequent concern in daily rheumatology practice.

Objectives: To develop points to consider (PTC) to assist rheumatologists when initiating a targeted therapy in the context of a previous malignancy.

Methods: Following EULAR standardised operating procedures, a task force met to define the research questions for a systematic literature review and to formulate the overarching principles (OPs) and the PTC.

Community pharmacists' perceptions of their challenges in relation to older adults prescribed psychotropic medications: a focus-group study.

Background: The management of psychotropic medication in older adults is a challenge for every healthcare professional, but data concerning community pharmacists are scarce in the literature.

Aim: Our objectives were i) to understand the difficulties encountered by community pharmacists in managing older adults on psychotropic medication, and ii) to identify potential solutions to the difficulties discussed.

Method: A qualitative study by focus group was proposed to all community pharmacists in the vicinity of the university hospital of Angers, France, between May and June 2023.

Preoperative CT-Scan Angiography Reconstruction Before Right Colectomy with Complete Mesocolon Excision: A Systematic Review and Meta-analysis.

Background: Complete mesocolon excision (CME) and central vascular ligation for right colonic cancers have been developed to improve oncological outcomes. However, it has been linked with a higher risk of morbidity and technical difficulties in operating near major vessels. This study investigated the impact of preoperative surgical planning utilizing CT reconstruction on surgical outcomes in right colectomy with CME.

CAR T-Cell Therapy for Rheumatic Diseases: What Does the Future Hold?

Chimeric antigen receptor (CAR) T-cell therapy, initially successful in treating hematological malignancies, is emerging as a potential treatment for autoimmune diseases, including rheumatic conditions. CAR T cells, engineered to target and eliminate autoreactive B cells, offer a novel approach to managing diseases like systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and inflammatory myopathies, where B cells play a pivotal role in disease pathology. Early case reports have demonstrated promising results, with patients achieving significant disease remission, normalization of serological markers, and the ability to discontinue traditional immunosuppressive therapies, which supported the initiation of several clinical trials.

Cost of Carbon in the Total Cost of a Healthcare Procedure: Example of Micro-Costing Study in a French Setting.

Background: Economic evaluation aims to compare the costs and results of health strategies to inform public decision making. Although sometimes suggested, until now no national evaluation agency has recommended formally incorporating the cost of greenhouse gas (GHG) emissions generated by health interventions into the estimation of healthcare costs.

Objective: The objective of this study was to test and discuss the feasibility of estimating and including the contribution of GHG emissions cost to the total cost of a surgical intervention, with the example of robot-assisted total knee arthroplasty (RTA), using a micro-costing approach.