Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Background: Predicting response to targeted cancer therapies increasingly relies on both simple and complex genetic biomarkers. Comprehensive genomic profiling using high-throughput assays must be evaluated for reproducibility and accuracy compared with existing methods.

Methods: This study is a multicenter evaluation of the Oncomine™ Comprehensive Assay Plus (OCA Plus) Pan-Cancer Research Panel for comprehensive genomic profiling of solid tumors.

Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.

Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.

Are there atypical sites of IgG4 related disease in head and neck region? Personal experience and literature review.

Purpose: Immunoglobulin G4-related disease (IgG4-RD) is a complex systemic fibroinflammatory condition with different clinical manifestations affecting multiple organ systems. Despite its rarity, the disease presents diagnostic and therapeutic challenges due to its mimicry of malignancies and other immune-mediated disorders. The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease is the current state of art to confirm the diagnosis of IgG4-RD even in the absence of histological analysis.

Old and New Biomarkers in Idiopathic Recurrent Acute Pericarditis (IRAP): Prognosis and Outcomes.

Purpose Of Review: To outline the latest discoveries regarding the utility and reliability of serum biomarkers in idiopathic recurrent acute pericarditis (IRAP), considering recent findings on its pathogenesis. The study highlights the predictive role of these biomarkers in potential short- (cardiac tamponade, recurrences) and long-term complications (constrictive pericarditis, death).

Recent Findings: The pathogenesis of pericarditis has been better defined in recent years, focusing on the autoinflammatory pathway.

Personal interest and attitudes towards oocyte donation practice: a cross-sectional survey among Dutch-speaking young women in Belgium.

Purpose: This survey aimed to assess the public's knowledge and opinions on oocyte donation (OD) among a large, unselected cohort of young Belgian women, and to explore aspects that could be enhanced to promote future OD programs.

Methods: We conducted a quantitative, epidemiological, cross-sectional web-based survey from February 2023 to April 2023. A private questionnaire was distributed to young women (21-30 years) living in Belgium via a digital link.

Ovarian cancer staging and follow-up: updated guidelines from the European Society of Urogenital Radiology female pelvic imaging working group.

Objective: To provide up-to-date European Society of Urogenital Radiology (ESUR) guidelines for staging and follow-up of patients with ovarian cancer (OC).

Methods: Twenty-one experts, members of the female pelvis imaging ESUR subcommittee from 19 institutions, replied to 2 rounds of questionnaires regarding imaging techniques and structured reporting used for pre-treatment evaluation of OC patients. The results of the survey were presented to the other authors during the group's annual meeting.

Indications for the addition of a patellofemoral joint arthroplasty following a previous unicondylar knee arthroplasty- a literature review and Delphi consensus.

Introduction: The aim of this study was to establish an international consensus statement on the indications for the addition of a patellofemoral joint arthroplasty (PFJA) in patients with a unicondylar knee arthroplasty (UKA) and symptomatic progression of patellofemoral compartment osteoarthritis.

Materials And Methods: A systematic review of the literature was conducted, and the results used to inform the development of a statement by an expert working group. This was then evaluated and modified, using a Delphi process, by members of the European Knee Society (EKS).

Automatic 4D mitral valve segmentation from transesophageal echocardiography: a semi-supervised learning approach.

Performing automatic and standardized 4D TEE segmentation and mitral valve analysis is challenging due to the limitations of echocardiography and the scarcity of manually annotated 4D images. This work proposes a semi-supervised training strategy using pseudo labelling for MV segmentation in 4D TEE; it employs a Teacher-Student framework to ensure reliable pseudo-label generation. 120 4D TEE recordings from 60 candidates for MV repair are used.

Percutaneous hallux fusion with calcaneus bone autograft: a retrospective cohort study of clinical and radiographic outcomes.

Background: In the case of end-stage hallux rigidus, first metatarsophalangeal (MTP) joint arthrodesis is the gold-standard and is traditionally performed via an open approach. However, complications such as nonunion have been reported to be as high as 30%. Recently, there have been reports demonstrating a percutaneous approach to be effective and safe.

Optimized workflow with hybrid (very) high-power short-duration radiofrequency ablation renders point-by-point pulmonary vein isolation as fast and effective as cryoballoon ablation.

Introduction: A hybrid approach with very high-power short-duration (vHPSD) posteriorly and ablation-index guided HPSD (50 W) anteriorly seems to be an optimal balance between efficiency and effectiveness for point-by-point pulmonary vein isolation (PVI). The aim of the current study is to compare vHPSD/HPSD ablation to cryoballoon ablation (CBA) in patients with symptomatic atrial fibrillation (AF).

Methods And Results: In this retrospective single-center study, we identified 110 consecutive patients who underwent their first PVI with either vHPSD/HPSD (n = 54) or CBA (n = 56).

Effect of CFTR modulators Elexacaftor/Tezacaftor/Ivacaftor on lipid metabolism in human bronchial epithelial cells.

Cystic Fibrosis (CF) is a life-threatening hereditary disease resulting from mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that encodes a chloride channel essential for ion transport in epithelial cells. Mutations in CFTR, notably the prevalent F508del mutation, impair chloride transport, severely affecting the respiratory system and leading to recurrent infections. Recent therapeutic advancements include CFTR modulators such as ETI, a combination of two correctors (Elexacaftor and Tezacaftor) and a potentiator (Ivacaftor), that can improve CFTR function in patients with the F508del mutation.

Post-mortem diagnosis of septic arthritis by Pasteurella multocida: a case report and literature review of fatal septic arthritis.

The diagnosis of septic arthritis remains challenging in the clinical setting, often leading to a suspicion for medical liability. Our purpose is to describe an unusual case of a post-mortem diagnosis of P. multocida fatal septic arthritis, in a healthy 67-year-old woman presenting with pain in the right shoulder.

Correlation between in vivo imaging and post‑mortem autopsy findings for the medico-legal evaluation of a right hepatic artery pseudoaneurysm as a fatal complication of laparoscopic cholecystectomy.

A 36-year-old woman diagnosed with complicated cholecystolithiasis underwent elective laparoscopic cholecystectomy (LC), then converted to open cholecystectomy because of a massive intraoperative bleeding. Hemostasis was performed with clipping and suturing the source of bleeding. In post-operative period, the patient suffered from persistent anemia associated with hemoperitoneum diagnosed through abdominal CT scanning, in absence of any sign of active bleeding.

Nutritional Strategies for Battling Obesity-Linked Liver Disease: the Role of Medical Nutritional Therapy in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Management.

Purpose Of Review: This narrative review explores the role of Medical Nutritional Therapy (MNT) in managing Metabolic-Associated Steatotic Liver Disease (MASLD), previously known as nonalcoholic fatty liver disease. It aims to examine the effectiveness of specific nutritional strategies in preventing and treating this obesity-linked liver disease.

Recent Findings: Emerging evidence underscores the benefits of the Mediterranean diet, low-carbohydrate diets, and intermittent fasting in reducing liver fat, improving insulin sensitivity, and mitigating inflammation.

The role of the Mediterranean diet in reducing the risk of cognitive impairement, dementia, and Alzheimer's disease: a meta-analysis.

Age-related cognitive impairment and dementia pose a significant global health, social, and economic challenge. While Alzheimer's disease (AD) has historically been viewed as the leading cause of dementia, recent evidence reveals the considerable impact of vascular cognitive impairment and dementia (VCID), which now accounts for nearly half of all dementia cases. The Mediterranean diet-characterized by high consumption of fruits, vegetables, whole grains, fish, and olive oil-has been widely recognized for its cardiovascular benefits and may also reduce the risk of cognitive decline and dementia.

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.

Prevalence of Chronic Hand Eczema in adults: A cross-sectional survey of over 60,000 respondents in the general population in Canada, France, Germany, Italy, Spain, and the United Kingdom.

Background: The lack of attention to Chronic Hand Eczema (CHE) and the lack of a specific International Classification of Diseases code for CHE may have limited the assessment of CHE prevalence. To date, prevalence estimates have primarily been derived from (partly small) single-country studies.

Objectives: To estimate the annual prevalence of self-reported physician-diagnosed CHE across socio-demographic characteristics among adults in Canada, France, Germany, Italy, Spain, and the United Kingdom (UK).

The Last Decade in Cardiac Amyloidosis: Advances in Understanding Pathophysiology, Diagnosis and Quantification, Prognosis, Treatment Strategies, and Monitoring Response.

Cardiac amyloidosis represents a unique disease process characterized by amyloid fibril deposition within the myocardial extracellular space. Advances in multimodality cardiac imaging enable accurate diagnosis and facilitate prompt initiation of disease-modifying therapies. Furthermore, rapid advances in multimodality imaging have enriched understanding of the underlying pathogenesis, enhanced prognostication, and resulted in the development of imaging-based markers that reflect the amyloid burden, which is of increasing importance when assessing the response to treatment.

The PERFORMANCE II Trial: A Prospective Multicenter Investigation of a Novel Carotid Stent System.

Background: Several randomized clinical trials have shown that the composite endpoint of death, stroke, and myocardial infarction (MI) is equivalent between carotid artery stenting and carotid endarterectomy. However, the risk of minor stroke has been consistently higher with carotid artery stenting.

Objectives: The authors sought to evaluate the safety and effectiveness of a novel carotid stent system comprised of a stent, an adjustable integrated embolic filter and a postdilation balloon, in patients at elevated risk for adverse events from carotid endarterectomy.

Shaping the Emission Directivity of Single Quantum Dots in Dielectric Nanodisks Exploiting Mie Resonances.

Manipulating the optical landscape of single quantum dots (QDs) is essential to increase the emitted photon output, enhancing their performance as chemical sensors and single-photon sources. Micro-optical structures are typically used for this task, with the drawback of a large size compared to the embedded single emitters. Nanophotonic architectures hold the promise to modify dramatically the emission properties of QDs, boosting light-matter interactions at the nanoscale, in ultracompact devices.

Aryl-Acetylene Layered Hybrid Perovskites in Photovoltaics.

Metal halide perovskites have shown exceptional potential in converting solar energy to electric power in photovoltaics, yet their application is hampered by limited operational stability. This stimulated the development of hybrid layered (two-dimensional, 2D) halide perovskites based on hydrophobic organic spacers, templating perovskite slabs, as a more stable alternative. However, conventional organic spacer cations are electronically insulating, resulting in charge confinement within the inorganic slabs, thus limiting their functionality.

Extending the MST Model to Large Biomolecular Systems: Parametrization of the ddCOSMO-MST Continuum Solvation Model.

Continuum solvation models such as the polarizable continuum model and the conductor-like screening model are widely used in quantum chemistry, but their application to large biosystems is hampered by their computational cost. Here, we report the parametrization of the Miertus-Scrocco-Tomasi (MST) model for the prediction of hydration free energies of neutral and ionic molecules based on the domain decomposition formulation of COSMO (ddCOSMO), which allows a drastic reduction of the computational cost by several orders of magnitude. We also introduce several novelties in MST, like a new definition of atom types based on hybridization and an automatic setup of the cavity for charged regions.