Publications by authors named "Bertoli G"

Arrhythmogenic cardiomyopathy (ACM) is a genetically heterogeneous inherited cardiomyopathy with an estimated prevalence of 1:5000-10 000 that predisposes patients to life-threatening ventricular arrhythmias (VA) and sudden cardiac death (SCD). ACM diagnostic criteria and risk prediction models, particularly for arrhythmogenic right ventricular cardiomyopathy (ARVC), the most common form of ACM, are typically genotype-agnostic, but numerous studies have established clinically meaningful genotype-phenotype associations. Early signs of ACM onset differ by genotype indicating the need for genotype-specific diagnostic criteria and family screening paradigms.

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Objective: Temporal lobe epilepsy (TLE) is the most common form of refractory focal epilepsy, and the current clinical diagnosis is based on EEG, clinical neurological history and neuroimaging findings.

Methods: So far, there are no blood-based molecular biomarkers of TLE to support clinical diagnosis, despite the pathogenic mechanisms underlying TLE involving defects in the regulation of gene expression. MicroRNAs (miRNAs) have emerged as important post-transcriptional regulators of gene expression.

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Chemical Short-Range Order (CSRO) has attracted recent attention from many researchers, creating intense debates about its impact on material properties. The challenges lie in confirming and quantifying CSRO, as its detection proves exceptionally demanding, contributing to conflicting data in the literature regarding its true effects on mechanical properties. Our work uses high-precision calorimetric data to unambiguously prove the existence and, coupled with atomistic simulations, quantify the type of CSRO.

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Glioblastoma (GBM) is a severe form of brain tumor that has a high fatality rate. It grows aggressively and most of the time results in resistance to traditional treatments like chemo- and radiotherapy and surgery Biodiversity, beyond representing a big resource for human well-being, provides several natural compounds that have shown great potential as anticancer drugs. Many of them are being extensively researched and significantly slow GBM progression by reducing the proliferation rate, migration, and inflammation and also by modulating oxidative stress.

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Non-Communicable Diseases (NCDs) significantly impact global health, contributing to over 70% of premature deaths, as reported by the World Health Organization (WHO). These diseases have complex and multifactorial origins, involving genetic, epigenetic, environmental and lifestyle factors. While Genome-Wide Association Study (GWAS) is widely recognized as a valuable tool for identifying variants associated with complex phenotypes; the multifactorial nature of NCDs necessitates a more comprehensive exploration, encompassing not only the genetic but also the epigenetic aspect.

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Air pollution, especially fine particulate matter (PM2.5, with an aerodynamic diameter of less than 2.5 μm), represents a risk factor for human health.

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Aims: The microtubule (MT) network plays a major role in the transport of the cardiac sodium channel Nav1.5 to the membrane, where the latter associates with interacting proteins such as dystrophin. Alterations in MT dynamics are known to impact on ion channel trafficking.

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The present video reports the surgical removal of an intralabyrinthine schwannoma. The video contains patient's medical history, preoperative radiological evaluations and detailed description of surgical steps of the procedure, consisting in labyrinthectomy, cochleostomy and insertion of a dummy electrode in the preserved cochlear lumen within the context of a subtotal petrosectomy.

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Effective domiciliary treatment can be useful in the early phase of COVID-19 to limit disease progression, and pressure on hospitals. There are discrepant data on the use of non-steroidal anti-inflammatory drugs (NSAIDs). Aim of this study is to evaluate whether the clinical outcome of patients who were hospitalized for COVID-19 is influenced by domiciliary treatment with NSAIDs.

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Breast cancer (BC) is the most frequent cancer and the second leading cause of death in women. A typical feature of BC cells is the metabolic shift toward increased glycolysis, which has become an interesting therapeutic target for metabolic drugs such as metformin (MET). Recently, the administration of the antihypertensive syrosingopine (SYRO) in combination with MET has shown a synergistic effect toward a variety of cancers.

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Background: This study aimed to describe a new proposed retro-conchal approach for middle ear surgery and to evaluate its advantages and postoperative impact.

Methodology: A retrospective case-series study was held at a tertiary university hospital from March 2008 to April 2022. We included 196 adult patients who were candidates for middle ear surgery because of chronic otitis media.

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Background: Breast cancer (BC) is the most common malignancy in women and the second leading cause of cancer-related death; chemoresistance is still a clinical challenge mainly because of the different molecular features of this kind of tumour. Doxorubicin (Doxo) is widely used despite its adverse effects and the common onset of resistance. Chaperone-Mediated Autophagy (CMA) has been identified as an important mechanism through which chemotherapeutics can exert their cytotoxic effects and, in this context, LAMP-2A, the key player of CMA, can be a useful biomarker.

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Article Synopsis
  • Earlier research indicated distinct blood changes in African patients with schistosomiasis, suggesting that full blood counts (FBC) could aid in diagnosing the disease in travelers and migrants.
  • A study reviewed patient records from seven travel clinics in Europe, analyzing FBC data of 382 subjects, focusing on changes among returned travelers and migrants.
  • The findings revealed significant decreases in various blood cell counts for returned travelers, particularly in females, and although migrants had somewhat similar profiles, they exhibited notably lower platelet and white blood cell counts; thus, FBC is not reliable for diagnosing schistosomiasis.
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Aims: Nfix is a transcription factor belonging to the Nuclear Factor I (NFI) family comprising four members (Nfia, b, c, x). Nfix plays important roles in the development and function of several organs. In muscle development, Nfix controls the switch from embryonic to fetal myogenesis by promoting fast twitching fibres.

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Background: MRI is the preferred imaging technique for the identification of osteomyelitis. The key element for diagnosis is the presence of bone marrow edema (BME). Dual-energy CT (DECT) is an alternative tool which is able to identify BME in the lower limb.

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The current video presents the surgical management of a complicated temporal bone fracture. The video contains patient's medical history, preoperative radiological evaluations, and detailed surgical approach to manage the disease. The current video presents the surgical management of a complicated temporal bone fracture.

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Article Synopsis
  • Protein-protein interactions are key to cellular functions and signaling, and understanding these networks helps in interpreting disease-related gene variants, particularly in the context of ion channels.
  • The study identifies and validates the functional roles of ten interactors for 13 types of ion channels in murine cardiac tissue, using various genetic techniques and microscopy.
  • A computational framework was developed to reconstruct human ion channel networks from deep proteome and gene expression data, revealing that 44% of the proteins in the network are significantly linked to electrocardiogram (ECG) traits, enhancing our understanding of cardiac electrophysiology.
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Objectives: Elevated concentrations of soluble urokinase plasminogen activator receptor (suPAR) predict progression to severe respiratory failure (SRF) or death among patients with COVID-19 pneumonia and guide early anakinra treatment. As suPAR testing may not be routinely available in every health-care setting, alternative biomarkers are needed. We investigated the performance of C-reactive protein (CRP), interferon gamma-induced protein-10 (IP-10) and TNF-related apoptosis-inducing ligand (TRAIL) for predicting SRF or death in COVID-19.

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Redox-active N-(fluoromethoxy)benzotriazoles were made accessible from fluoroacetic acid and hydroxybenzotriazoles via electrodecarboxylative coupling. After alkylation, they become effective monofluoromethoxylation reagents, enabling the photocatalytic C-H functionalization of arenes. Thus, irradiation of 1-(OCH F)-3-Me-6-(CF )benzotriazolium triflate with blue LED light in the presence of [Ru(bpy) (PF ) ] promotes the synthesis of diversely functionalized aryl monofluoromethyl ethers.

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Breast cancer (BC) is a heterogeneous disease, affecting millions of women every year. Early diagnosis is crucial to increasing survival. The clinical workup of BC diagnosis involves diagnostic imaging and bioptic characterization.

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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy. The molecular mechanisms determining HCM phenotypes are incompletely understood. Myocardial biopsies were obtained from a group of patients with obstructive HCM (n = 23) selected for surgical myectomy and from 9 unused donor hearts (controls).

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Prostate cancer (PC) is a male common neoplasm and is the second leading cause of cancer death in American men. PC is traditionally diagnosed by the evaluation of prostate secreted antigen (PSA) in the blood. Due to the high levels of false positives, digital rectal examination and transrectal ultrasound guided biopsy are necessary in uncertain cases with elevated PSA levels.

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Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by the neurodegeneration of motoneurons. About 10% of ALS is hereditary and involves mutation in 25 different genes, while 90% of the cases are sporadic forms of ALS (sALS). The diagnosis of ALS includes the detection of early symptoms and, as disease progresses, muscle twitching and then atrophy spreads from hands to other parts of the body.

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