Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Temperature Excursion of Intravitreal Anti-VEGF Agents During Home Storage.

Importance: Some patients worldwide are asked to acquire an anti-vascular endothelial growth factor (anti-VEGF) agent from a pharmacy, store it, and then bring it to a physician for intravitreal injection (IVT). Anti-VEGF agents must be stored in the refrigerator to avoid bacterial contamination or denaturation. Some cases of severe intraocular inflammation have been reported following IVT of more recently approved anti-VEGF agents, which might be explained by thermal instability.

Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.

Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.

Manganese overload as a co-factor of neurological symptoms in a patient with sclerosing cholangitis due to Langerhans cell histiocytosis.

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Could cleaved embryo morphology and morphokinetics be associated with prenatal and neonatal outcomes?

Purpose: To evaluate if morphology and morphokinetics of cleaved embryos affect prenatal and perinatal outcomes.

Methods: This retrospective cohort study included 734 single fresh embryo transfer (SET) from ICSI from January 2014 to December 2020 at the Dijon University Hospital. Using time-lapse technology, embryos were defined as TOP or non-TOP according to morphological/morphokinetic criteria.

Safety and efficacy of the automated suture system in valvular heart surgery: a multicenter, prospective registry.

Background: In the last years, the Cor-Knot device has been increasingly used in heart valve surgery. Our aim was to investigate the incidence of valvular complications in patients who underwent valvular surgery using the Cor-Knot device in multicentric cohorts at one-year follow-up.

Methods: Three hundred and sixty-eight patient underwent heart valve repair or replacement surgery using automated titanium suture fasteners in four cardiothoracic surgery departments between September 2018 and January 2020.

Comparison of the lethal triad and the lethal diamond in severe trauma patients: a multicenter cohort.

Background: To reduce the number of deaths caused by exsanguination, the initial management of severe trauma aims to prevent, if not limit, the lethal triad, which consists of acidosis, coagulopathy, and hypothermia. Recently, several studies have suggested adding hypocalcemia to the lethal triad to form the lethal diamond, but the evidence supporting this change is limited. Therefore, the aim of this study was to compare the lethal triad and lethal diamond for their respective associations with 24-h mortality in severe trauma patients receiving transfusion.

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.

Outliers of Treatment Frequency in Retinal Vein Occlusion: 24-Month Comparative Analysis of Fight Retinal Blindness! Practitioners.

Background: We aimed to describe a 2-year outcome of eyes managed by practitioners benchmarked using a funnel plot by their frequency of treatment using vascular endothelial growth factor (VEGF) inhibitors for naive retinal vein occlusion (RVO).

Methods: A multicentre, international, observational study of 29 doctors in 12 countries managing 1110 eyes with RVO commencing VEGF inhibitors between 1 January 2012-2022 tracked in the Fight Retinal Blindness! registry.

Results: We identified 3 outlying 'intensive' practitioners (managing 350/1110 eyes [32%]), 22 'typical' practitioners (604/1110, [54%]) and 4 outlying 'relaxed' practitioners (156/1110, [14%]) with respective 24-month outcomes in Branch and Central RVO including the primary outcome, mean adjusted change in visual acuity (VA) in BRVO: +16.

Plasma clearance of 5-fluorouracil is more influenced by variations in glomerular filtration rate than by uracil concentration.

Objectives: The use of plasma uracil measurements to detect dihydropyrimidine dehydrogenase (DPD) deficiency is one of the methods for preventing toxicities associated with fluoropyrimidines, including 5-Fluorouracil (5-FU). Unfortunately, this measurement is subject to variations, that may lead to unnecessary dosage reductions and therefore to a reduced efficacy of treatment. Recently, new factors such as hepatic and renal impairment have been proposed as also influencing uracil concentration.

Foramen tympanicum: tomographic study of a large cohort of Europeans.

Purpose: The foramen tympanicum (FT) is an anatomical variation of the tympanic part of the temporal bone located in the anteroinferior part of the external auditory pore (EAP) and posteromedial to the temporomandibular joint (TMJ). The FT is most often asymptomatic, but it can be symptomatic in rare cases. The prevalence of FT varies widely in the literature.

Early Detection of Hearing Impairment Signals Post-mRNA COVID-19 Vaccination: A Disproportionality Analysis Study on French Pharmacovigilance Database.

Introduction: Improving adverse events following immunisation (AEFI) detection is vital for vaccine safety surveillance, as an early safety signal can help minimize risks. In February 2022, the World Health Organization reported a preliminary signal on sudden sensorineural hearing loss (SSNHL) following coronavirus disease 2019 (COVID-19) vaccination, 54 million persons in France received at least one dose, covering 78.8% of the population within a year.

Protocol for a multicentre randomised triple-blind controlled trial assessing the clinical efficacy of intra-articular platelet-rich plasma injections versus placebo in symptomatic knee osteoarthritis (PIKOA).

Introduction: Despite their exponential use, intra-articular (IA) injections of platelet-rich plasma (PRP) are not part of the recommended treatments for knee osteoarthritis (OA) by most international scientific societies. The most recent clinical trials have shown conflicting results, and some did not find any clinical benefit of PRP injections. The PRP In Knee OsteoArthritis (PIKOA) trial was designed to assess the clinical efficacy and structural benefit of IA injections of PRP vs saline solution (placebo) in symptomatic knee OA.

Steam Vein Sclerosis for Nonsaphenous varicose veins.

Background: The treatment of nonsaphenous varicose veins (NSVV), including incompetent perforating veins (IPV) and recurrent varicose veins (RVV), remains challenging for many reasons, including vein tortuosity, deep location and short vein to be treated. Data and recommendations are lacking. Steam vein sclerosis (SVS) is an endothermal therapy that has been used in the treatment of incompetent saphenous veins, achieving occlusion rates similar to other thermal ablation techniques with good patient tolerance and minimal postoperative pain.