Publications by authors named "Ilaria Gandin"

To assess the role of artificial intelligence (AI) based automated software for detection of Diabetic Retinopathy (DR) compared with the evaluation of digital retinography by two double masked retina specialists. Two-hundred one patients (mean age 65 ± 13 years) with type 1 diabetes mellitus or type 2 diabetes mellitus were included. All patients were undergoing a retinography and spectral domain optical coherence tomography (SD-OCT, DRI 3D OCT-2000, Topcon) of the macula.

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Background: Sarcoidosis is a systemic inflammatory disease characterized by an altered inflammatory response.

Objective: The aim of this study was to evaluate whether immune system alterations detected by lymphocyte typing in peripheral blood correlate with the severity of sarcoidosis, calculated according to two separate severity scores proposed by Wasfi in 2006 and Hamzeh in 2010.

Materials And Methods: Eighty-one patients were recruited, and clinical data and laboratory tests at the time of diagnosis were obtained in order to assess the severity index score and investigate any statistically significant correlation with the cytofluorimetry data.

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Background: Machine learning (ML) methods to build prediction models starting from electrocardiogram (ECG) signals are an emerging research field. The aim of the present study is to investigate the performances of two ML approaches based on ECGs for the prediction of new-onset atrial fibrillation (AF), in terms of discrimination, calibration and sample size dependence.

Methods: We trained two models to predict new-onset AF: a convolutional neural network (CNN), that takes as input the raw ECG signals, and an eXtreme Gradient Boosting model (XGB), that uses the signal's extracted features.

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Background: Staging of melanoma and follow up after melanoma diagnosis aims at predicting risk and detecting progression or recurrence at early stage, respectively in order to timely start and/or change treatment. Tumor thickness according to Breslow, status of the sentinel node and value of the lactate dehydrogenase (LDH) are well-established prognostic markers for metastatic risk, but reliable biomarkers identifying early recurrence or candidates who may benefit best from medical treatment are still warranted. Liquid biopsy has emerged to be a suitable method for identifying biomarkers for early cancer diagnosis, prognosis, therapeutic response prediction, and patient follow-up.

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Idiopathic pulmonary fibrosis (IPF) is a rare and severe disease with a median survival of ~3 years. Nintedanib (NTD) has been shown to be useful in controlling interstitial lung disease (ILD) in IPF. Here we describe the experience of NTD use in IPF in a real-life setting.

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Article Synopsis
  • * The study analyzed electronic health records from over 10,600 patients who were evaluated for heart conditions but had no prior heart failure diagnosis, tracking developments over an average of 65 months.
  • * Two AI models were developed, with a deep neural network model (PHNN) proving more effective than a traditional Cox model in predicting heart failure risks, identifying 20 key predictors relevant to clinical practice.
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Objective: To define a predictive Artificial Intelligence (AI) algorithm based on the integration of a set of biopsy-based microRNAs expression data and radiomic features to understand their potential impact in predicting clinical response (CR) to neoadjuvant radio-chemotherapy (nRCT). The identification of patients who would truly benefit from nRCT for Locally Advanced Rectal Cancer (LARC) could be crucial for an improvement in a tailored therapy.

Methods: Forty patients with LARC were retrospectively analyzed.

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Background: Systemic sclerosis (SSc) is an incurable connective tissue disease characterized by decreased peripheral blood perfusion due to microvascular damage and skin thickening/hardening. The microcirculation deficit is typically secondary to structural vessel damage, which can be assessed morphologically and functionally in a variety of ways, exploiting different technologies.

Objective: This paper focuses on reviewing new studies regarding the correlation between microvascular damage, endothelial dysfunction, and internal organ involvement, particularly pulmonary changes in SSc.

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  • - The study explores how different genetic backgrounds influence patient outcomes in cardiomyopathies (CMPs), finding that focusing on genotype rather than just phenotype offers better predictive accuracy for adverse events.
  • - In a cohort of 281 patients, it was found that sudden cardiac death and major arrhythmias occurred more frequently in those without the dilated cardiomyopathy (DCM) phenotype, with certain genotypes (like LMNA) showing poorer survival trends.
  • - The results highlight that while phenotypic diversity exists in genetic CMPs, basing patient classification on genetic factors provides a more reliable method for predicting outcomes compared to using phenotypic characteristics alone.
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  • Interpretability in healthcare is crucial, but deep learning models often lack it, hindering their use; this study introduces an attention layer in an LSTM neural network to improve model transparency in predicting patient outcomes.
  • Using data from 10,616 cardiovascular patients in the MIMIC III dataset, the model analyzes 48 clinical parameters over 10-hour sequences to predict death within a week, achieving an AUC of 0.790.
  • The study finds that attention weights align well with known risk factors, demonstrating the effectiveness of attention mechanisms in enhancing deep learning interpretability for electronic health records analysis.
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Dyskerin is a nucleolar protein involved in the small nucleolar RNA (snoRNA)-guided pseudouridylation of specific uridines on ribosomal RNA (rRNA), and in the stabilization of the telomerase RNA component (hTR). Loss of function mutations in DKC1 causes X-linked dyskeratosis congenita, which is characterized by a failure of proliferating tissues and increased susceptibility to cancer. However, several tumors show dyskerin overexpression.

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The genomic variation of the Italian peninsula populations is currently under characterised: the only Italian whole-genome reference is represented by the Tuscans from the 1000 Genome Project. To address this issue, we sequenced a total of 947 Italian samples from three different geographical areas. First, we defined a new Italian Genome Reference Panel (IGRP1.

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In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F) for >1.

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The study shows the feasibility of predicting firms' expenditures in innovation, as reported in the Community Innovation Survey, applying a supervised machine-learning approach on a sample of Italian firms. Using an integrated dataset of administrative records and balance sheet data, designed to include all informative variables related to innovation but also easily accessible for most of the cohort, random forest algorithm is implemented to obtain a classification model aimed to identify firms that are potential innovation performers. The performance of the classifier, estimated in terms of AUC, is 0.

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Article Synopsis
  • - An amendment to the original paper has been published.
  • - The amendment can be accessed through a link provided at the top of the paper.
  • - Readers are encouraged to check the link for updates and additional information.
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Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2.

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Article Synopsis
  • Smoking affects levels of good and bad cholesterol and fat in the blood, but we don't know if genetics play a role in how smoking influences these levels.
  • Researchers studied a lot of people (over 133,000) to see if genes and smoking together affect cholesterol and triglycerides, finding 13 new gene locations related to these fats.
  • It's important to include different groups of people in research, especially when looking at how lifestyle choices like smoking interact with genes, to discover new things.
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Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants.

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A person's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures has not been studied. We therefore incorporated gene-alcohol interactions into a multiancestry genome-wide association study of levels of high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. We included 45 studies in stage 1 (genome-wide discovery) and 66 studies in stage 2 (focused follow-up), for a total of 394,584 individuals from 5 ancestry groups.

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Genome-wide association studies (GWAS) of quantitative electrocardiographic (ECG) traits in large consortia have identified more than 130 loci associated with QT interval, QRS duration, PR interval, and heart rate (RR interval). In the current study, we meta-analyzed genome-wide association results from 30,000 mostly Dutch samples on four ECG traits: PR interval, QRS duration, QT interval, and RR interval. SNP genotype data was imputed using the Genome of the Netherlands reference panel encompassing 19 million SNPs, including millions of rare SNPs (minor allele frequency < 5%).

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In the version of this article originally published, the name of author Martin H. de Borst was coded incorrectly in the XML. The error has now been corrected in the HTML version of the paper.

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Article Synopsis
  • C-reactive protein (CRP) is a key biomarker reflecting chronic low-grade inflammation linked to various diseases, and its genetic origins are not fully understood.
  • Two genome-wide association studies (GWASs) involving 204,402 European participants revealed 58 genetic loci related to CRP levels, with these loci explaining about 7% of CRP variation.
  • Analysis showed that CRP has a protective effect against schizophrenia but may increase the risk of developing bipolar disorder, offering new insights into inflammation's role in these conditions.
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  • High blood pressure is a significant risk factor for cardiovascular disease and is influenced by genetics, but it can be modified through lifestyle changes.
  • This research is the largest genetic study on blood pressure, involving over 1 million individuals of European descent, identifying 535 new genetic loci related to blood pressure traits like systolic and diastolic pressure.
  • The study reveals new biological pathways for regulating blood pressure, which could lead to better prevention strategies for cardiovascular disease in the future.
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Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 European-descent individuals identifies 44 PR interval loci (34 novel). Examination of these loci reveals known and previously not-yet-reported biological processes involved in cardiac atrial electrical activity.

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