Francesco Andrea Causio

• Università Cattolica del Sacro Cuore

We read your recent editorial 1 with great interest and would like to thank the editors for highlighting critical issues within the public, single-payer Italian National Health Service (SSN) data systems. However, we believe that the assertion that the "Italian health data system is broken" oversimplifies the complexities of an evolving system that...

In the digital era, health literacy is crucial for informed health decisions and improved outcomes. This systematic review examines the effectiveness of digital health interventions (DHIs) in improving health literacy, as defined by the WHO. We included studies (cross-sectional, surveys, and case reports), focusing on interventions like mobile heal...

Personalized medicine (PM) has the potential to revolutionize healthcare by delivering treatments tailored to individual patients based on their unique characteristics. However, ensuring its effective implementation presents complex challenges, particularly in terms of long-term sustainability. To address these challenges, the IC2PerMed project fos...

Background/Objectives: Bell’s palsy (BP) is a neurological disorder characterized by sudden unilateral peripheral facial paralysis. The etiology in children remains largely unknown, and standardized management strategies are lacking. The aim of this retrospective cohort study is to evaluate clinical features, laboratory markers, and therapeutic opt...

Vaccination coverage trends across European Union (EU) countries have shown concerning variations in recent years. This study aims to analyze vaccination coverage trends for seven key vaccinations across all EU member states from 1980 to 2020. Data from the WHO/UNICEF Estimates of National Immunization Coverage (WUENIC) dataset were analyzed using...

Personalized medicine, leveraging genetic, environmental, and lifestyle data, has already transformed healthcare by tailoring prevention, diagnosis, and treatment to individual patients. The successful development and implementation of personalized approaches rely on the public’s proficiency and awareness of personalized medicine, enabling access t...

Introduction Personalised Medicine (PM) aims to tailor diagnostic and therapeutic pathways for patients. Despite technological advancements in this field, public awareness of PM remains limited, representing a barrier to its clinical integration. Methods We conducted a survey across eight European Countries (France, Germany, Hungary, Italy, Nether...

In the digital era, health literacy is crucial for informed health decisions and outcomes. This systematic review evaluates the effectiveness of digital health interventions (DHIs) in enhancing health literacy, as defined by the World Health Organization. We included a variety of studies, such as cross-sectional studies, surveys, and case reports,...

Background Mobile health technologies have the potential to revolutionize healthcare delivery and patient engagement. This study explores public attitudes toward health app usage and data sharing across eight European countries, addressing a significant gap in understanding the public’s perspective on mHealth adoption. Methods A cross-sectional su...

Funded by the European Commission under the Digital Europe Programme and through co-funding from participating Member States, the European Genomic Data Infrastructure (GDI) aims to support the 1+Million Genome initiative for establishing an effective data infrastructure for genomic data. GDI has the potential to fill the gap between genomic researc...

Issue/Problem After the COVID-19 pandemic, Italy’s National Health Service (NHS) is transforming by adopting telemedicine through its National Recovery and Resilience Plan, aiming to modernize healthcare delivery and ensure equity. In this plan Territorial Coordination Centers (COT) were designed to improve patient access and continuity of care. Ho...

Italy’s healthcare sector has undergone significant digital transformation since 2008, driven by national strategies and reforms overseen by the Ministry of Health, the Ministry of Economy and Finance, and the Agency for Digital Italy. Key initiatives include the establishment of centralized booking systems, electronic health records (EHR), ePrescr...

Health literacy is pivotal for advancing public health, empowering individuals to grasp health information and make informed decisions. However, health literacy levels are often influenced by social and economic factors, with lower levels correlating with reduced disease-specific knowledge and underutilization of preventive health services. As heal...

This study explores public perceptions and engagement in mobile health (mHealth) across eight European countries: Italy, the Netherlands, France, Germany, Spain, Poland, Romania, and Hungary. The focus is on the public's attitudes toward health app usage and data sharing examined through a cross-sectional survey involving 6,581 participants. The su...

Background: Performing emergency surgery for bowel obstruction continues to place a significant strain on the healthcare system. Conventional assessment methods for outcomes in bowel obstruction cases often concentrate on isolated factors, and the evaluation of results for individuals with bowel obstruction remains poorly studied. This study aimed...

The first annual meeting of the Italian Society for Artificial Intelligence in Medicine (Società Italiana Intelligenza Artificiale in Medicina, SIIAM) on December 7, 2023, marked a significant milestone in integrating artificial intelligence (AI) into Italy's healthcare framework. This paper reports on the collaborative workshop conducted during th...

Background/Aim: Performing emergency surgery for bowel obstruction continues to place a significant strain on the healthcare system. Conventional assessment methods for outcomes in bowel obstruction cases often concentrate on isolated factors, and the evaluation of results for individuals with bowel obstruction remains poorly studied. This study ai...

In the transformative landscape of healthcare, personalized medicine emerges as a pivotal shift, harnessing genetic, environmental and lifestyle data to tailor medical treatments for enhanced outcomes and cost efficiency. Central to its success is public engagement and consent to share health data amidst rising data privacy concerns. To investigate...

Personalized medicine (PM) tailors prevention and treatment to individuals based on their unique characteristics. It can improve health outcomes and healthcare sustainability by optimizing resource allocation. The European Union (EU) and China both prioritize PM. The IC2PerMed project aims to facilitate collaboration by developing a PM roadmap. Thi...

The dawn of Artificial intelligence (AI) in healthcare stands as a milestone in medical innovation. Different medical fields are heavily involved, and pediatric emergency medicine is no exception. We conducted a narrative review structured in two parts. The first part explores the theoretical principles of AI, providing all the necessary background...

The dawn of Artificial Intelligence (AI) in healthcare stands as a milestone in medical innovation. A plethora of different medical fields are heavily involved and pediatric emergency medicine is no exception. These new tools do not merely provide more advanced and efficient systems for patients’ diagnosis, management and treatment. They rather con...

Personalized medicine, leveraging genetic, environmental, and lifestyle data, has transformed healthcare by tailoring prevention, diagnosis, and treatment to individual patients. The successful implementation of personalized approaches relies on the public's awareness and proficiency in personalized medicine, enabling access to innovative technique...

Background The advent of Personalized Medicine (PM) holds significant promise in revolutionizing healthcare by tailoring treatments to individual patients based on their data. However, its successful implementation requires the seamless integration of innovative technologies and presents formidable challenges in terms of sustainability. To tackle t...

Personalized medicine leverages genetic, environmental, and lifestyle information to enhance the efficacy and safety of medical interventions. The shift from traditional one-size-fits-all approaches to a more individualized strategy signifies a major evolution in healthcare systems globally, promising improved patient outcomes and cost-effectivenes...

Introduction Over the last decade, the emergence and spread of Personalised Medicine (PM) has defined a substantial revolution in healthcare. In principle, healthcare system sustainability is challenged by the investments required for research and development, as well as the adoption of PM techniques in routine clinical care. The “Integrating China...

Advancements in genomics have significant implications for public health, making citizens' education vital for informed decision-making. Based on two literature reviews' findings and a survey conducted with experts from the Italian Network of Genomics in Public Health, we conducted a pilot survey on Italian citizens' attitudes, knowledge and educat...

Introduction Vaccination is one of the most effective public health interventions, preventing more than 4 million deaths each year. However, the complex and multifactorial phenomenon of vaccine hesitancy has increased over the years, causing a reduction in vaccination coverage (VC) and the resurgence of epidemics from vaccine-preventable diseases (...

Background and objective The capacity to promote and disseminate the best evidence-based practices in terms of digital health innovations and technologies represents an important goal for countries and governments. To support the digital health maturity across countries the Global Digital Health Partnership (GDHP) was established in 2019. The missi...

Background Personalised medicine (PM) has been fostered by technological and medical advances, but all stakeholders, including healthcare professionals, citizens and policy makers, should achieve adequate health literacy to promote PM implementation. The “Integrating China in the International Consortium for Personalised Medicine” (IC2PerMed) proje...

Aim: Research and innovation (R&I) actors are fundamental in shortening the translational gap of personalized medicine in health systems. In the context of the 'Integrating China in the International Consortium for Personalized Medicine' project, we aimed to map the current landscape of R&I actors in the field of personalized medicine in the EU and...

Introduction: The X-chromosomal USP9X gene encodes a deubiquitylating enzyme involved in protein turnover and TGF-β signaling during fetal and neuronal development. USP9X variants in females are primarily associated with complete loss-of-function (LOF) alleles, leading to neurodevelopmental delay and intellectual disability, as well as a wide rang...

Italy was the first country in the western world to be affected by the COVID-19 pandemic, arguably among the worst-affected ones, counting 12 million cases and 150 thousand deaths two years since the first case. Facing new challenges, Italy has enacted different strategies and policies to limit the spread of the SARS-CoV-2 virus and treat those aff...

Introduction Several countries are either planning or implementing national strategies for the development and integration of Personalized Medicine (PM) into their healthcare systems. Personalized Medicine is an undisputed priority of the European Commission (EC), which has funded the project “Integrating China into the International Consortium for...

Background Personalised medicine (PM) has the potential to transform health systems and make them more sustainable, by making the population healthier and allocating resources efficiently. European Union and China have become world leaders in the field of PM, increasing collaborations worldwide. In this context, the EU Commission in 2020 launched t...

Vaccinations are successful, cost-effective public health interventions; nevertheless, vaccine hesitancy represents a concern and several EU countries have implemented mandatory vaccinations to counteract it. The assessment of vaccination coverage data is helpful to clarify the reason behind this choice better and assess its impact. Data were extra...

Background To promote shared digital health best practices in a global context, as agreed within the Global Digital Health Partnership (GDHP), one of the most important topics to evaluate is the ability to detect what participating countries believe to be priorities suitable to improve their healthcare systems. No previously published scientific pa...

Background Clinical trials are essential for bringing new drugs, technologies and procedures to the market and clinical practice. Considering the design and the four-phase development, only 10% of them complete the entire process, partly due to the increasing costs and complexity of clinical trials. This low completion rate has a huge negative impa...

The recent progress of genomics research is providing unprecedented insight into human genetic variance, susceptibility to disease and risk stratification. Current trends predict that a massive amount of genomic data will be produced in the upcoming years which, when coupled with the fast-paced development of the field, will create new social, ethi...

Vaccinations generate health, economic and social benefits in both vaccinated and unvaccinated populations. The aim of this study was to conduct a cost–benefit analysis to estimate the costs and benefits associated with the COVID-19 vaccination campaign for health workers in Fondazione Policlinico Universitario Agostino Gemelli IRCCS (FPG). The ana...

Human Papilloma virus (HPV) is the cause of a sexually transmitted infection which can lead to the development of genital warts, anogenital and oropharyngeal cancers. In Europe, about 90% of HPV-related cancers and 90% of genital warts are estimated to be vaccine preventable each year. In Italy, around 5,000 cases of cancers are due to HPV infectio...

La mobilità internazionale è una delle massime priorità dell'attuale società globalizzata dopo essere stata forte-mente ostacolata dalla pandemia di Covid-19. In tutto il mondo, sono stati fatti molti sforzi per rivitalizzare i viaggi non essenziali (ad esempio per il turismo), preservando al contempo la sicurezza. Sono state avviate un numero cres...

Background: achieving Human Papilloma Virus (HPV) - related diseases control is an important challenge in public health. In Italy HPV vaccination uptake does not rise a sufficient level. The aim of this project is to identify strategies to promote HPV vaccination in Italy. Methods: an integrated approach consisting of a systematic review and a two-...

Objectives Most countries initially deployed COVID-19 vaccines preferentially in elderly populations. We aimed to evaluate whether population-level vaccine effectiveness is heralded by an increase in the relative proportion of deaths among non-elderly populations that were less covered by vaccination programs. Eligible data We collected data from...

Background. Most countries initially deployed COVID-19 vaccines preferentially in elderly populations. Population-level vaccine effectiveness may be heralded by an increase in the proportion of deaths among non-elderly populations that were less covered by vaccination programs. Methods. We collected data from 40 countries on age-stratified COVID-19...

Human Papillomavirus (HPV) vaccination is a well-known fundamental strategy in the prevention of cervical cancer, as it is always caused by HPV infection. In fact, primary prevention of the infection corresponds to primary prevention of HPV-related cancers and other diseases. Since an effective prevention at the population level is the final goal,...

Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinic...

Background Human Papillomavirus (HPV) is responsible for the development of several pathologies besides the cervical cancer and HPV vaccination is a key strategy for primary prevention. The aim of this research was to identify strategies adopted to increase HPV vaccination coverage among the adolescents. Methods A systematic review was carried-out...

Background Vaccination against Human Papilloma Virus (HPV) might allow controlling HPV-related diseases but coverage in Italy is far from the optimal goal. This project aimed at identifying strategies to promote HPV vaccination in Italy. Methods an integrative approach including a systematic review and a two-step panel consultation was used to ide...

Hereditary multiple osteochondromas (HMO) is a rare autosomal dominant skeletal disorder, caused by heterozygous variants in either EXT1 or EXT2, which encode proteins involved in the biogenesis of heparan sulphate. Pathogenesis and genotype-phenotype correlations remain poorly understood. We studied 114 HMO families (158 affected individuals) with...