343 results match your criteria: "Azienda Sanitaria Universitaria Integrata di Udine.[Affiliation]"

Article Synopsis
  • * Factors linked to achieving a complete response included the absence of splenomegaly, experiencing pruritus, and having a higher hydroxyurea dosage; however, higher doses also led to more side effects.
  • * Despite many patients having a partial or no response, a significant portion continued on hydroxyurea rather than switching to ruxolitinib, with symptoms like splenomegaly motivating the switch; the study suggests improvements in hydroxy
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Article Synopsis
  • The Italian Society of Clinical Pathology and Laboratory Medicine conducted a nationwide survey to evaluate the adoption of new autoimmune diagnostic technologies and practices among autoimmunology laboratories in Italy.
  • A questionnaire featuring 59 questions was distributed to 152 laboratories, assessing factors like test volume, technology used, automation level, testing methods, and interaction with clinicians.
  • Results showed a high response rate (79.6%) with most labs using various advanced testing technologies and 65% providing interpretative comments in reports, suggesting a trend towards enhanced testing capabilities and closer collaboration with healthcare providers.
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We aimed to assess the potential role of Asymmetric dimethylarginine (ADMA) in conditioning respiratory function and pulmonary vasoregulation during Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV2) infection. Within 72 h from admission, samples from 90 COVID-19 patients were assessed for ADMA, SDMA, L-arginine concentrations. In addition to classical statistics, patients were also clustered by a machine learning approach according to similar features.

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Fetal growth at term and placental oxidative stress in a tissue micro-array model: a histological and immunohistochemistry study.

Histochem Cell Biol

October 2023

Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Infant Health, University of Genoa, Largo Rosanna Benzi 10, 16132, Genova, Italy.

Article Synopsis
  • This study investigates 8-hydroxyguanine (8-oxo-Gua) staining in placental tissues, focusing on how it correlates with fetal size at birth, placental histology, and various pregnancy factors in a cohort of 165 women.
  • Results showed that larger gestational age (LGA) fetuses had higher nuclear 8-oxo-Gua scores than late fetal growth restricted (FGR) fetuses, while smaller gestational age (SGA) and LGA had lower cytoplasmic scores than appropriate gestational age (AGA) fetuses.
  • The study found sex-specific differences in oxidative damage within the placenta, indicating that male and female fetuses experience differing levels of oxidative stress and growth
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Diagnosis of autoimmune diseases is in most cases challenging for clinicians as there is not a single specific laboratory or histological marker to diagnose or exclude the presence of the conditions. This review focused on the current knowledge of the role of autoantibodies' testing in various diseases, such as systemic lupus erythematosus, rheumatoid arthritis, antiphospholipid syndrome, undifferentiated connective tissues disease, primary biliary cholangitis and primary sclerosing cholangitis. Similarly, the prognostic and diagnostic values of autoantibodies testing in patients with interstitial lung disease have been reviewed.

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Aberrant DNA methylation at CpG dinucleotides is a cancer hallmark that is associated with the emergence of resistance to anti cancer treatment, though molecular mechanisms and biological significance remain elusive. Genome scale methylation maps by currently used methods are based on chemical modification of DNA and are best suited for analyses of methylation at CpG rich regions (CpG islands). We report the first high coverage whole-genome map in cancer using the long read nanopore technology, which allows simultaneous DNA-sequence and -methylation analyses on native DNA.

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Analytical aspects of the antinuclear antibody test by HEp-2 indirect immunofluorescence: EFLM report on an international survey.

Clin Chem Lab Med

June 2023

Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.

Objectives: Detection of antinuclear antibodies (ANA) by indirect immunofluorescence assay using HEp-2 cells (HEp-2 IFA) is used to screen for various autoimmune diseases. HEp-2 IFA suffers from variability, which hampers harmonization.

Methods: A questionnaire was developed to collect information on HEp-2 IFA methodology, computer-assisted diagnosis (CAD) systems, training, inter-observer variability, quality assessment, reagent lot change control, and method verification.

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Anaplastic thyroid cancer (ATC) is a very rare, but extremely aggressive form of thyroid malignancy, responsible for the highest mortality rate registered for thyroid cancer. Treatment with taxanes (such as paclitaxel) is an important approach in counteracting ATC or slowing its progression in tumors without known genetic aberrations or those which are unresponsive to other treatments. Unfortunately, resistance often develops and, for this reason, new therapies that overcome taxane resistance are needed.

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Article Synopsis
  • Patients with cytopenic myelofibrosis (MF) face more challenges in treatment options and prognosis compared to those with a myeloproliferative phenotype, with common definitions for cytopenia including low leukocyte, hemoglobin, or platelet counts.
  • In a study of 886 patients treated with ruxolitinib, 45.9% had cytopenic MF and factors like high molecular risk mutations and high prognostic scores were linked to this phenotype.
  • Patients with cytopenia received lower doses of ruxolitinib and had poorer response rates for symptoms and spleen size, along with a higher likelihood of treatment discontinuation over five years compared to those
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  • The study analyzed trends in chronic hepatitis B patients in Italy through a multicenter observational cohort (PITER) from 2019-2021, comparing it to an earlier cohort (MASTER) from 2012-2015.
  • Key findings revealed that the PITER cohort had older patients and a higher percentage of females, with a significant decline in HBeAg prevalence compared to MASTER, while rates of anti-HD virus remained stable.
  • The study concludes that while chronic hepatitis B infection is becoming better managed in Italy, HDV remains a concern, particularly among patients with cirrhosis and non-Italian migrants.
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Background: Molecular characteristics of squamous cell anal carcinoma (SCAC) are poorly explored. Immune checkpoint inhibitors showed limited activity in phase I/II trials, but predictive and prognostic biomarkers are lacking.

Patients And Methods: In the phase II randomised trial CARACAS (NCT03944252), avelumab alone (Arm A) or with cetuximab (Arm B) was tested in pre-treated advanced SCAC , with overall response rate being the primary end-point.

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Aims: Transthyretin cardiac amyloidosis (ATTR-CM) is a progressive and fatal cardiomyopathy. Treatment options in patients with advanced ATTR-CM are limited to cardiac transplantation (CT). Despite case series demonstrating comparable outcomes with CT between patients with ATTR-CM and non-amyloid cardiomyopathies, ATTR-CM is considered to be a contraindication to CT in some centers, partly due to a perceived risk of amyloid recurrence in the allograft.

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Background: In patients affected by connective tissue diseases (CTDs), the identification of wide autoantibody profiles may prove useful in early diagnosis, in the evaluation of prognosis (risk stratification), and in predicting response to therapy. The aim of the present study was to evaluate the utility of multiparametric autoantibody analysis performed by a new fully automated particle-based multi-analyte technology (PMAT) digital system in a large multicenter cohort of CTD patients and controls.

Methods: Serum samples from 787 patients with CTD (166 systemic lupus erythematosus; 133 systemic sclerosis; 279 Sjögren's syndrome; 106 idiopathic inflammatory myopathies; 103 undifferentiated CTD), 339 patients with other disorders (disease controls) (118 infectious diseases, 110 organ-specific autoimmune diseases, 111 other rheumatic diseases), and 121 healthy subjects were collected in 13 rheumatologic centers of the FIRMA group.

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Introduction: Community-acquired methicillin-resistant (CA-MRSA) infections represent a leading cause of purulent skin and soft tissue infections in some geographical regions. Traditionally, 'old antibiotics' such as trimethoprim-sulfamethoxazole, tetracyclines, clindamycin, chloramphenicol,vancomycin, and teicoplanin have been used to treat these infections, but these were often associated with low efficacy and excessive side effects and toxicity, especially nephrotoxicity. Along with the development of new compounds, the last decade has seen substantial improvements in the management of CA-MRSA infections.

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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Am J Hum Genet

December 2022

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium. Electronic address:

EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency.

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Purpose Of Review: Nosocomial infections caused by Acinetobacter baumannii currently represent a serious challenge for clinicians because treatment options are limited and frequently associated with significant toxicity. Cefiderocol is a first-in-class siderophore cephalosporin that has a proven efficacy for the treatment of multidrug-resistant Gram-negative infections, including carbapenem-resistant A. baumannii.

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Article Synopsis
  • Tracheostomy is frequently performed on critically ill patients needing extended mechanical ventilation, and this study analyzed the outcomes of such patients after one year, comparing those who received tracheostomy to those who did not.
  • Out of 398 ICU survivors, nearly half underwent tracheostomy, leading to longer hospital stays and increased risk of readmission, though their one-year mortality rates were similar to non-tracheostomy patients.
  • Over the year, tracheostomy patients faced worse functional outcomes, such as lower scores on assessed physical and health-related metrics, while similar rates of follow-up visits and readmissions were observed between both groups.
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N6-methyladenosine (m6A) is the most abundant internal modification of RNA in eukaryotic cells, and, in recent years, it has gained increasing attention. A good amount of data support the involvement of m6A modification in tumorigenesis, tumor progression, and metastatic dissemination. However, the role of this RNA modification in thyroid cancer still remains poorly investigated.

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The microfibril-forming collagen VI is proteolytically cleaved and it was proposed that the released C-terminal Kunitz domain (C5) of the α3 chain is an adipokine important for tumor progression and fibrosis. Designated "endotrophin," C5 is a potent biomarker for fibroinflammatory diseases. However, the biochemical mechanisms behind endotrophin activity were not investigated.

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Intravenous leiomyomatosis (IVL) are rare and complex tumors, characterized by high rates of recurrences after surgical removal and the capability of multi-organ involvement including pulmonary embolization. Regarding the surgical treatment of Intracardiac Leiomiomatosis (ICL), only few articles have been published and no controlled data are available. A combined approach that involves a Team of Cardiologists, Heart Surgeons, Vascular surgeons and Radiologists seems to be successful in treating ICL.

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