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INTRODUCTION: The objective of the study was to develop machine learning (ML) models that predict the percentage weight change in each interval of time in antiretroviral therapy-experienced people living with HIV. METHODS: This was an observational study that comprised consecutive people living with HIV attending Modena HIV Metabolic Clinic with at least 2 visits. Data were partitioned in an 80/20 training/test set to generate 10 progressively parsimonious predictive ML models. Weight gain was defined as any weight change >5%, at the next visit. SHapley Additive exPlanations values were used to quantify the positive or negative impact of any single variable included in each model on the predicted weight changes. RESULTS: A total of 3,321 patients generated 18,322 observations. At the last observation, the median age was 50 years and 69% patients were male. Model 1 (the only 1 including body composition assessed with dual-energy x-ray absorptiometry) had an accuracy greater than 90%. This model could predict weight at the next visit with an error of <5%. CONCLUSIONS: ML models with the inclusion of body composition and metabolic and endocrinological variables had an excellent performance. The parsimonious models available in standard clinical evaluation are insufficient to obtain reliable prediction, but are good enough to predict who will not experience weight gain.
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Infecciones por VIH , Humanos , Masculino , Persona de Mediana Edad , Femenino , Infecciones por VIH/tratamiento farmacológico , Composición Corporal , Aumento de Peso , Aprendizaje AutomáticoRESUMEN
Clinical medicine and health-care developments in recent years testified a tremendous increase in the number of available guidelines, i.e., "best practices" encoding and standardizing care procedures for a given disease. Clinical guidelines are subject to continuous development and revision by committees of expert physicians and health authorities and, thus, multiple versions coexist as a consequence of the clinical and healthcare activities. Moreover, several alternatives are usually included in order to make the guidelines as general as possible, making them difficult to handle both in manual and automated fashions. In this work, we will introduce techniques to model and to provide efficient personalized access to very large collections of multi-version clinical guidelines, which can be stored both in textual and in executable format in an XML repository. In this way, multiple temporal perspectives, patient profile and context information can be used by an automated personalization service to efficiently build on demand a guideline version tailored to a specific use case.
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Guías de Práctica Clínica como Asunto , Sistemas de Computación , Sistemas de Apoyo a Decisiones Clínicas , Adhesión a Directriz , Humanos , Internet , Lenguajes de Programación , Programas InformáticosRESUMEN
As Big Data Analysis meets healthcare applications, domain-specific challenges and opportunities materialize in all aspects of data science. Advanced statistical methods and Artificial Intelligence (AI) on Electronic Health Records (EHRs) are used both for knowledge discovery purposes and clinical decision support. Such techniques enable the emerging Predictive, Preventative, Personalized, and Participatory Medicine (P4M) paradigm. Working with the Infectious Disease Clinic of the University Hospital of Modena, Italy, we have developed a range of Data-Driven (DD) approaches to solve critical clinical applications using statistics, Machine Learning (ML) and Big Data Analytics on real-world EHR. Here, we describe our perspective on the challenges we encountered. Some are connected to medical data and their sparse, scarce, and unbalanced nature. Others are bound to the application environment, as medical AI tools can affect people's health and life. For each of these problems, we report some available techniques to tackle them, present examples drawn from our experience, and propose which approaches, in our opinion, could lead to successful real-world, end-to-end implementations. DESY report number: DESY-22-153.
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Aging is one of the hallmarks of multiple human diseases, including cancer. We hypothesized that variations in the number of copies (CNVs) of specific genes may protect some long-living organisms theoretically more susceptible to tumorigenesis from the onset of cancer. Based on the statistical comparison of gene copy numbers within the genomes of both cancer-prone and -resistant species, we identified novel gene targets linked to tumor predisposition, such as CD52, SAT1 and SUMO. Moreover, considering their genome-wide copy number landscape, we discovered that microRNAs (miRNAs) are among the most significant gene families enriched for cancer progression and predisposition. Through bioinformatics analyses, we identified several alterations in miRNAs copy number patterns, involving miR-221, miR-222, miR-21, miR-372, miR-30b, miR-30d and miR-31, among others. Therefore, our analyses provide the first evidence that an altered miRNAs copy number signature can statistically discriminate species more susceptible to cancer from those that are tumor resistant, paving the way for further investigations.
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Variaciones en el Número de Copia de ADN , Predisposición Genética a la Enfermedad , MicroARNs , Neoplasias , Susceptibilidad a Enfermedades , Dosificación de Gen , Genoma , Humanos , MicroARNs/genética , Neoplasias/genéticaRESUMEN
The post-acute COVID-19 syndrome (PACS) is characterized by the persistence of fluctuating symptoms over three months from the onset of the possible or confirmed COVID-19 acute phase. Current data suggests that at least 10% of people with previously documented infection may develop PACS, and up to 50-80% of prevalence is reported among survivors after hospital discharge. This viewpoint will discuss various aspects of PACS, particularly in older adults, with a specific hypothesis to describe PACS as the expression of a modified aging trajectory induced by SARS CoV-2. This hypothesis will be argued from biological, clinical and public health view, addressing three main questions: (i) does SARS-CoV-2-induced alterations in aging trajectories play a role in PACS?; (ii) do people with PACS face immuno-metabolic derangements that lead to increased susceptibility to age-related diseases?; (iii) is it possible to restore the healthy aging trajectory followed by the individual before pre-COVID?. A particular focus will be given to the well-being of people with PACS that could be assessed by the intrinsic capacity model and support the definition of the healthy aging trajectory.
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COVID-19 , Anciano , Envejecimiento , COVID-19/complicaciones , COVID-19/epidemiología , Humanos , Salud Pública , SARS-CoV-2 , Síndrome Post Agudo de COVID-19RESUMEN
AIMS: The aim of this study was to estimate a 48 hour prediction of moderate to severe respiratory failure, requiring mechanical ventilation, in hospitalized patients with COVID-19 pneumonia. METHODS: This was an observational prospective study that comprised consecutive patients with COVID-19 pneumonia admitted to hospital from 21 February to 6 April 2020. The patients' medical history, demographic, epidemiologic and clinical data were collected in an electronic patient chart. The dataset was used to train predictive models using an established machine learning framework leveraging a hybrid approach where clinical expertise is applied alongside a data-driven analysis. The study outcome was the onset of moderate to severe respiratory failure defined as PaO2/FiO2 ratio <150 mmHg in at least one of two consecutive arterial blood gas analyses in the following 48 hours. Shapley Additive exPlanations values were used to quantify the positive or negative impact of each variable included in each model on the predicted outcome. RESULTS: A total of 198 patients contributed to generate 1068 usable observations which allowed to build 3 predictive models based respectively on 31-variables signs and symptoms, 39-variables laboratory biomarkers and 91-variables as a composition of the two. A fourth "boosted mixed model" included 20 variables was selected from the model 3, achieved the best predictive performance (AUC = 0.84) without worsening the FN rate. Its clinical performance was applied in a narrative case report as an example. CONCLUSION: This study developed a machine model with 84% prediction accuracy, which is able to assist clinicians in decision making process and contribute to develop new analytics to improve care at high technology readiness levels.
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Simulación por Computador , Infecciones por Coronavirus/complicaciones , Aprendizaje Automático , Neumonía Viral/complicaciones , Insuficiencia Respiratoria/diagnóstico , Anciano , Betacoronavirus , Análisis de los Gases de la Sangre , COVID-19 , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Modelos Estadísticos , Pandemias , Estudios Prospectivos , Respiración Artificial , Insuficiencia Respiratoria/etiología , SARS-CoV-2RESUMEN
UCbase 2.0 (http://ucbase.unimore.it) is an update, extension and evolution of UCbase, a Web tool dedicated to the analysis of ultraconserved sequences (UCRs). UCRs are 481 sequences >200 bases sharing 100% identity among human, mouse and rat genomes. They are frequently located in genomic regions known to be involved in cancer or differentially expressed in human leukemias and carcinomas. UCbase 2.0 is a platform-independent Web resource that includes the updated version of the human genome annotation (hg19), information linking disorders to chromosomal coordinates based on the Systematized Nomenclature of Medicine classification, a query tool to search for Single Nucleotide Polymorphisms (SNPs) and a new text box to directly interrogate the database using a MySQL interface. To facilitate the interactive visual interpretation of UCR chromosomal positioning, UCbase 2.0 now includes a graph visualization interface directly linked to UCSC genome browser. Database URL: http://ucbase.unimore.it.