A5011300616- Cardiomyopathy and Myosin Studies
- Asian Studies and History
- Cardiovascular Function and Risk Factors
- Lysosomal Storage Disorders Research
- Philippine History and Culture
- Cardiovascular Effects of Exercise
- Parkinson's Disease Mechanisms and Treatments
- Socioeconomic Development in Asia
- Bayesian Methods and Mixture Models
- Trypanosoma species research and implications
- Congenital Heart Disease Studies
- Cellular transport and secretion
- Congenital heart defects research
- Statistical Methods and Bayesian Inference
- Southeast Asian Sociopolitical Studies
- Machine Learning in Healthcare
- Multilingual Education and Policy
- Artificial Intelligence in Healthcare
- Statistical Methods and Inference
- Electrochemical sensors and biosensors
- Autopsy Techniques and Outcomes
- Time Series Analysis and Forecasting
- Anthropological Studies and Insights
- Innovation, Technology, and Society
- Cardiac Structural Anomalies and Repair
Azienda Ospedaliero-Universitaria Careggi
2018-2025
University of Florence
2016-2024
Nottingham Trent University
2011-2013
Hodges University
2010
Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent next-generation (NGS) catalyzed routine additional genes dubious HCM-causing potential. We used 19 years genetic results to define a reliable set implicated Mendelian HCM and assess the value expanded NGS panels.We dissected from 1,198 single-center probands devised widely applicable score identify which yield effective diagnostic setting.Compared with early panels...
Abstract Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM a recognized genetic disorder often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for three-quarters of identified mutations. Methods As part international multidisciplinary SILICOFCM project ( www.silicofcm.eu ) present study evaluated association between underlying...
Machine learning (ML) and artificial intelligence are emerging as important components of precision medicine that enhance diagnosis risk stratification. Risk stratification tools for hypertrophic cardiomyopathy (HCM) exist, but they based on traditional statistical methods. The aim was to develop a novel machine tool the prediction 5-year in HCM. goal determine if its predictive accuracy is higher than state-of-the-art tools. Data from total 2302 patients were used. data comprised...
Sacubitril/valsartan treatment reduces mortality and hospitalizations in heart failure with reduced ejection fraction but has limited application hypertrophic cardiomyopathy (HCM). The aim of this study was to evaluate the effect sacubitril/valsartan on peak oxygen consumption (VO
Introduction Heart failure (HF) is a complex clinical syndrome. Accurate risk stratification and early diagnosis of HF are challenging as its signs symptoms non-specific. We propose to address this global challenge by developing the STRATIFYHF artificial intelligence-driven decision support system (DSS), which uses novel analytical methods in determining risk, prognosis HF. The primary aim present study collect prospective data validate DSS (in terms diagnostic accuracy, sensitivity...
Background and Objectives: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease that affects approximately 1 in 500 people. Due to an incomplete penetrance associated with numerous factors, HCM not manifested all carriers of genetic mutation. Although about two-thirds patients are male, it seems female gender more severe phenotype worse prognosis. The objective this study was evaluate related differences presentation. Materials Methods: This conducted as a part...
Abstract Background Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease with a broad spectrum of severity. HCM ranges from benign course to progressive disorder characterized by angina, heart failure, malignant arrhythmia, syncope, or sudden cardiac death. So far, no medical treatment has reliably shown halt reverse progression alleviate its symptoms. While angiotensin receptor neprilysin inhibitor sacubitril/valsartan reduce mortality and hospitalization in...
Cardiovascular disorders in general are responsible for 30% of deaths worldwide. Among them, hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease that present about 1 500 young adults and can cause sudden death (SCD).Although the current state-of-the-art methods model risk SCD patients, to best our knowledge, no available modeling patient's clinical status up 10 years ahead. In this paper, we propose novel machine learning (ML)-based tool predicting progression patients diagnosed...
Virtual population generation is an emerging field in data science with numerous applications healthcare towards the augmentation of clinical research databases significant lack size. However, impact on development AI (artificial intelligence) models to address unmet needs has not yet been investigated. In this work, we assess whether aggregation real virtual patient can improve performance existing risk stratification and disease classification two rare domains, namely primary Sjögren's...
This paper looks at the formation and display of a form identification alternative to national one, belonging village, within leisure practices Kadazan villagers in Sabah, East Malaysia, both constituted by regular meetings peer groups festive events. The analysis applies concept ‘community practice’ group who regularly invest most their resources free time, but also money, interacting between themselves organising celebrations for various life-cycle events or other occasions, argues that...
In-silico clinical platforms have been recently used as a new revolutionary path for virtual patients (VP) generation and further analysis, such as, drug development. Advanced individualized models developed to enhance flexibility reliability of the patient cohorts. This study focuses on implementation comparison three different methodologies generating data in-silico trials. Towards this direction, computational methods, namely: (i) multivariate log-normal distribution (log- MVND), (ii)...
Goal: To develop a computationally efficient and unbiased synthetic data generator for large-scale in silico clinical trials (CTs). Methods: We propose the BGMM-OCE, an extension of conventional BGMM (Bayesian Gaussian Mixture Models) algorithm to provide estimations regarding optimal number components yield high-quality, at reduced computational complexity. Spectral clustering with eigenvalue decomposition is applied estimate hyperparameters generator. A case study conducted compare...
Nowadays, there is a growing need for the development of computationally efficient virtual population generators large-scale in-silico clinical trials. In this work, we utilize Gaussian Mixture Models (GMM) with variational Bayesian inference (BGMM) using robust estimations Dirichlet concentration priors generation populations. The were based on an exponential transformation number components. proposed method was compared against state-of-the-art data generators, such as, networks,...
Newspaper advertisements for various products have been used to promote the annual rice harvest festival, Pesta Kaamatan, of Kadazandusun minority group Sabah. Robert argued that in print, as a genre, qualify commodities embodiments and/or possessions nation and their consumption is form appropriation by individuals qualities nation. This paper asks whether same notion remains applicable if we replace with one its allotropes: ethnic group. While it can be there specific community consumers,...
The overwhelming need to improve the quality of complex data structures in healthcare is more important than ever. Although has been point interest many studies, none them focused on development quantitative and explainable methods for imputation. In this work, we propose a "smart" imputation workflow address missing across context silico clinical trials. AI algorithms were utilized produce high-quality virtual patient profiles. A search algorithm was then developed extract best profiles...
This article reconstructs the history of nationalist movement among Dusunic peoples also known as Kadazandusun in Malaysian state Sabah, and its demise following formation Federation Malaysia 1963. It analyses how ‘Kadazan nationalists’ elaborated a modern, objectified culture based on cultural traits, symbols traditions rural used print media local radio to spread it. When were integrated minority Malaysia, nation builders acquired control all main excluded their languages culture. The then...
Abstract Background Anderson-Fabry disease (AFD) is an X-linked lysosomal storage that has progressively gained attention due to the availability of specific therapeutic options. Heart involvement critical prognostic significance and differential diagnosis with Hypertrophic Cardiomyopathy (HCM) as challenging it crucial provide patient appropiate treatment. Purpose To describe ECG features in AFD patients according presence anatomical hypertrophy compare them matched HCM patients. Methods...
Background The present study aims to explore the setting of consultation and communication between physicians patients affected by genetic cardiomyopathies, investigating how two parts therapeutic relationship participate share information. Methods results 45 adult various cardiomyopathies took part in a prospective case while attending consultations at cardiologic outpatient clinic constituting an Italian referral centre for cardiomyopathies. A researcher observed consultations, which were...
Abstract Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM a recognized genetic disorder often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for three-quarters of identified mutations. Methods: As part international multidisciplinary SILICOFCM project ( www.silicofcm.eu ) present study evaluated association between...
This article considers the way in which a medical technology, implantable cardioverter defibrillator (ICD), by preventing fatal outcomes, this case sudden death, deriving from cardiac diseases, and specifically hypertrophic cardiomyopathy, contributes to development of particular type chronicity. While biomedicine celebrates technological advances treatments naturalises chronicity, focussing on life expectancy as victory over 'acute' aspects disease, patients live with disease is left...