promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of gene?

Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.

Protein-surface interactions in nano-scale biosensors for IL-6 detection using functional monolayers.

A multiscale approach is employed to investigate the interaction dynamics between interleukin-6, a key cancer biomarker, and alkyl-functionalized surfaces, with the ultimate goal of guiding biosensor design. The study integrates classical molecular dynamics, Brownian dynamics simulations, and binding experiments to explore the adsorption dynamics and energetics of IL-6 on surfaces modified with self-assembled monolayers (SAMs). The comparative analysis reveals a dramatic effect on the interaction strength of IL-6 with a SAMs comprising a mix of charged and hydrophobic ligands.

Photoinduced energy and electron transfer processes in a supramolecular system combining a tetrapyrenylporphyrin derivative and arene-ruthenium metalla-prisms.

A supramolecular system, consisting of a tetrapyrenylporphyrinic core surrounded by arene-ruthenium prisms, has been assembled and characterized by means of electrochemical and photophysical techniques. The photophysical study shows that quantitative energy transfer from the peripheral pyrenyl units towards the central porphyrin core is operative in the tetrapyrenylporphyrinic system. Interestingly, encapsulation of the pyrenyl units into the ruthenium cages affects the photophysics of the central porphyrin component, since its emission quantum yield is reduced in the supramolecular array.

Mitochondrial DNA (mtDNA) as fluid biomarker in neurodegenerative disorders: A systematic review.

Background: Several studies evaluated peripheral and cerebrospinal fluid (CSF) mtDNA as a putative biomarker in neurodegenerative diseases, often yielding inconsistent findings. We systematically reviewed the current evidence assessing blood and CSF mtDNA levels and variant burden in Parkinson's disease (PD), Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS). Multiple sclerosis (MS) was also included as a paradigm of chronic neuroinflammation-driven neurodegeneration.

Response of native (Quercus robur L.) and alien (Quercus rubra L.) species to water stress and nutrient input in European temperate ecosystems.

Drought and nutrient-poor soils can increase the invasive potential of non-native species, further changing the ecosystems they invade. The high adaptability of these alien species, especially in their efficient use of resources, improves their resilience against abiotic stress. Here, we evaluated the response of the North American Quercus rubra L.

The SARS-CoV-2 nucleocapsid protein interferes with the full enzymatic activation of UPF1 and its interaction with UPF2.

The nonsense-mediated mRNA decay (NMD) pathway triggers the degradation of defective mRNAs and governs the expression of mRNAs with specific characteristics. Current understanding indicates that NMD is often significantly suppressed during viral infections to protect the viral genome. In numerous viruses, this inhibition is achieved through direct or indirect interference with the RNA helicase UPF1, thereby promoting viral replication and enhancing pathogenesis.

From construction machines to remote construction robots: control, interfaces, and usability of the Cranebot.

Construction machines, for example cranes, excavators, or bulldozers, are widely diffused systems operating outdoors in harsh and dangerous environments, such as building sites, forests, and mines. Typically, construction machines require the on-site presence of highly skilled users to manage the complexity of their control and the high power of hydraulic actuation. Construction machines could benefit from recent developments of robot avatar technology that has demonstrated the viability of remotizing human physical activities, leveraging on intuitive interfaces and controls.

Use of a novel claw-suture technique for localization of solitary pulmonary nodules: retrospective study and experience from one center.

Background: Video-assisted thoracoscopic surgery (VATS) is more effective for diagnosing and treating solitary pulmonary nodules (SPNs). It is sometimes difficult to localize through use of minimally invasive techniques. We evaluated the feasibility, effectiveness, and safety of a novel localization method for SPNs.

Incidence, mortality and survival of pleural mesothelioma in Zurich between 1981 and 2019, Switzerland.

Background: Pleural mesothelioma is mainly caused by (occupational) asbestos exposure. Since 1990, the import and use of asbestos is prohibited in Switzerland. However, due to the long latency time between exposure and the development of disease, incidence in Switzerland was expected to further increase for years after the ban.

Uniportal video-assisted thoracic surgery resection of subsolid or millimetric nodules using an innovative micro-coil technique: our experience.

Background: Sometimes, the identification of ground-glass opacities (GGOs), small or deep pulmonary nodules can be difficult also in expert hands. Usually for these lesions pulmonary lobectomy is an overtreatment, so we developed a technique to identify easily these nodules. The objective of this research is to assess the effectiveness and safety of using preoperative cone beam computed tomography (CBCT) to guide the placement of micro-coils in the lung parenchyma near GGO and small lesions.

Use of the anatomical formulae for predicted postoperative (PPO) evaluation overestimates the loss of FEV1 and DLCO after minimally invasive lung resections.

Background: Pulmonary function assessment is mandatory before oncological lung resection surgery. To do so, subjects undergo a pulmonary function test (PFT) and the calculation of predicted postoperative (PPO) values to estimate the residual lung function after surgery. The aim of this study is to evaluate the use of anatomical formulae in estimating postoperative pulmonary function in patients undergoing minimally invasive surgery (MIS).

First Observation of a Nuclear Recoil Peak at (100eV) with Crab: A Potential New Calibration Standard for Cryogenic Detectors.

Any experiment aiming to measure rare events, like Coherent Elastic neutrino-Nucleus Scattering (CE NS) or hypothetical Dark Matter scattering, via nuclear recoils in cryogenic detectors relies crucially on a precise detector calibration at sub-keV energies. The Crab collaboration developed a new calibration technique based on the capture of thermal neutrons inside the target crystal. Together with the Nucleus experiment, first measurements with a moderated Cf neutron source and a cryogenic detector were taken.

The antibiotic de-escalation strategy in patients with multidrug-resistant bacterial colonization after allogeneic stem cell transplantation.

Colonization by multidrug-resistant (MDR) bacteria and related bloodstream infections (BSI) are associated with a high rate of mortality in patients with hematological malignancies after intensive chemotherapy and allogeneic stem cell transplantation (allo-SCT). In this retrospective study, we analyzed the outcomes of patients colonized with MDR bacteria (primarily carbapenem-resistant , KPC), before allo-SCT. We also investigated the feasibility and safety of an antimicrobial de-escalating approach in these patients.

Teleguided photocoagulation treatments across continents with a remotely programmed laser for retinal diseases.

Diabetic retinopathy and retinal vein occlusion represent two prevalent vision-threatening retinal diseases. Retinal laser therapy still plays an important role in treating these conditions, but its successful administration often requires referral to specialized centers and retina experts. It is, therefore, essential to develop a new treatment methodology that enables patients to benefit from the expertise of specialists from reference centers.

Topological Bardeen-Cooper-Schrieffer theory of superconducting quantum rings.

Abstract: Quantum rings have emerged as a playground for quantum mechanics and topological physics, with promising technological applications. Experimentally realizable quantum rings, albeit at the scale of a few nanometers, are 3D nanostructures. Surprisingly, no theories exist for the topology of the Fermi sea of quantum rings, and a microscopic theory of superconductivity in nanorings is also missing.

Right coronary ostial atresia as a cause of arrhythmia and cardiogenic shock in a young woman: a case report.

A 19-year-old woman presented to the emergency department with arrhythmia and signs of cardiogenic shock. After a 12-lead electrocardiogram ruled out acute myocardial infarction, and cardiac magnetic resonance showed no sign of cardiomyopathy, cardiac computed tomography angiography (CCTA) was performed, displaying ostial atresia of the right coronary artery. She was thus referred to a specialist centre for congenital cardiovascular disease, where an electrophysiological study observed an arrhythmogenic focus on the posteromedial papillary muscle, which was ablated, and she has been asymptomatic since.

Examining the prevention approach in National Dementia Plans from European and North American countries.

Objectives: This paper aims to provide a comprehensive review of National Dementia Plans (NDPs) from selected European and North American countries, focusing on the distinct prevention strategies outlined and the approaches employed for reducing dementia risk.

Method: The sample consisted of 16 NDPs from Austria, Canada, Finland, France, Germany, Greece, Ireland, Italy, Liechtenstein, Luxembourg, Malta, the Netherlands, Spain, Switzerland, the UK, and the USA. These NDPs were retrieved from the Alzheimer's Disease International (ADI) database, with regular updates checked on official governmental websites.

A rare case of paradoxical embolization due to an acquired extracardiac right-to-left shunt during covid-19 infection: Every street leads to heart.

Unlabelled: Right-to-left shunt may be a cause of paradoxical embolization (and cryptogenic cerebral ischemic events). Patent foramen ovale and pulmonary arterio-venous malformations are the most common cause of paradoxical embolization; however, some rare cardiovascular lesions may cause a right-to-left shunt with consequent paradoxical embolization. We describe a case of a young child with superior sinus venosus atrial septal defect who underwent surgical closure and developed a cryptogenic cerebral ischemic attack due to a rare cause of paradoxical embolization, during a long-term follow-up.

Ventricular lead malfunction in a patient with complete atrioventricular block and corrected transposition of the great arteries: Is leadless pacemaker the best solution?

Unlabelled: Corrected transposition of the great arteries (c-TGA) is a congenital abnormality characterized by atrioventricular (AV) and ventriculoarterial discordance, associated with early and late-onset conduction disturbances. We report the case of a c-TGA patient affected by congenital complete AV block, with right ventricular lead malfunction with prolonged dwell time and two abandoned leads. He underwent leadless VDD pacemaker implantation at an unusual site (i.

A transdisciplinary, comparative analysis reveals key risks from Arctic permafrost thaw.

Permafrost thaw poses diverse risks to Arctic environments and livelihoods. Understanding the effects of permafrost thaw is vital for informed policymaking and adaptation efforts. Here, we present the consolidated findings of a risk analysis spanning four study regions: Longyearbyen (Svalbard, Norway), the Avannaata municipality (Greenland), the Beaufort Sea region and the Mackenzie River Delta (Canada) and the Bulunskiy District of the Sakha Republic (Russia).

A systemic C balance as a tool to evaluate the environmental role of complex and integrated productive systems.

The most frequently used environmental assessment methods are often applied, through a product-based approach, to analyse a single productive process, but such methods neglect the interactions that characterise complex and integrated biological systems (CIS), and often only consider the negative impacts. In order to overcome these gaps and since a material balance can highlight the relationships and interactions of a CIS, a systemic carbon (C) balance is here proposed as a complementary analysis tool to highlight the relationships that exist between different productive processes carried out by the same production unit and to characterise its environmental role. The method was applied to a beef farm consortium to its validation.

Preparation and validation of nanomolar aqueous bilirubin standard solutions.

Bilirubin (BR) is the product of cellular heme catabolism and the main bile pigment in animal blood. It is an established biomarker for hemolysis and liver function. Over the last decade, mild hyperbilirubinemia has been shown to be a biomarker for a lower risk of cardiovascular disease, due to its antioxidant and anti-inflammatory effects.

High-Sensitivity Detection of Chiro-Optical Effects in Single Nanoparticles by Four-Wave Mixing Interferometry.

The field of chiral nanoparticles is rapidly expanding, yet measuring the chirality of single nano-objects remains a challenging endeavor. Here, we report a technique to detect chiro-optical effects in single plasmonic nanoparticles by means of phase-sensitive polarization-resolved four-wave mixing interferometric microscopy. Beyond conventional circular dichroism, the method is sensitive to the particle polarizability, in amplitude and phase.