Istituto Superiore di Sanità
Recent publications
This study aimed to provide the first comprehensive analysis of the health status of transgender and gender-diverse (TGD) adults in Italy, addressing disparities in physical and mental health and access to gender-affirming care. By combining self-reported health data with clinical evaluations and incorporating demographic and clinical variables, the research offers a robust and previously unavailable health profile of this population. An anonymous online survey targeting TGD adults across Italy was conducted from June 2020 to June 2021. The survey consisted of self-reported health assessments and clinician-conducted evaluations, collecting data on chronic physical conditions, mental health disorders, infectious diseases, and gender-affirming care. Statistical analyses, including chi-square tests and logistic regression, identified associations between demographics and health outcomes. Among 959 participants, mental health disorders were prevalent, with over half experiencing depression and/or anxiety. Non-binary individuals reported poorer health compared to binary individuals. Chronic conditions such as thyroid disorders were more common in individuals assigned female at birth (AFAB), whereas those assigned male at birth (AMAB) had higher rates of osteoporosis and sexually transmitted infections. Key health predictors included age, education, employment, and engagement in gender-affirming hormone therapy. The study reveals stark health disparities among TGD individuals in Italy, emphasizing the need for targeted health policies, expanded mental health services, and specialized healthcare provider training.
Alveolar echinococcosis is a lethal zoonotic disease caused by the fox tapeworm Echinococcus multilocularis . The parasite is widely distributed in the Northern Hemisphere and exhibits low genetic diversity among populations. To compare the differences among four E. multilocularis strains from different geographical locations, namely, Alaska (EM-AK), Japan (EM-JP), Xinjiang (EM-XJ), and Ningxia (EM-NX), their complete mitochondrial (mt) sequences were compared, and their induced pathological lesions were analyzed in mouse models. The complete mt sequence of EM-AK resulted in 0.84%–0.86% variation as compared with the other strains, which had a lower variation. Phylogenetic analysis and parsimony network indicated that EM-AK resulted in 30,000 years of evolutionary distance from the other three strains. EM-AK induced more pathological damage than the other three strains, which was likely to induce more host cell infiltration and acute granuloma in the liver. More importantly, EM-AK produced more protoscoleces than the other three strains, which may impact the transmission dynamics of the parasite. Given the geographical location of four strains, which is far from each other, and also the pathological differences, the strains of E. multilocularis are likely models for addressing the relationship and interfacial immune response between the host and the helminth. IMPORTANCE Echinococcus multilocularis is the causative agent of alveolar echinococcosis, which is considered the most serious parasitic disease in the Northern Hemisphere. There are many genotypes, but the pathogenic and mitochondria sequence and differences are still unclear. Therefore, this study showed both pathological and genetic differences between the four strains of E. multilocularis . EM-AK induced more severe immune responses and especially induced more host cell infiltration, which resulted in more severe granuloma in the liver. EM-JP has metacestode lesions morphologically closer to those of E. granulosus with clear cyst fluid. However, this strain produced much fewer protoscoleces (PSCs). Genetically, EM-AK is more distant from other strains.
Background Fecal microbiota transplantation (FMT) is emerging as a potential treatment modality for individuals living with inflammatory bowel disease (IBD). Despite its promise, the effectiveness of FMT for treating IBD, particularly for ulcerative colitis (UC), still requires thorough clinical investigation. Notwithstanding differences in methodologies, current studies demonstrate its potential for inducing remission in UC patients. Therefore, standardized and robust randomized clinical trials (RCTs) are needed to further support its efficacy for managing UC. The aim of the second Rome Consensus Conference was to address gaps and uncertainties identified in previous research regarding FMT and to offer a robust framework for future studies applied to the treatment of UC. Methods Global experts in the field of clinical IBD, mucosal immunology, and microbiology (N = 48) gathered to address the need for standardized clinical trials in FMT investigation. The group focused on key issues, such as stool donation, donor selection, characterization of fecal biomass, potential administration routes, as well as the process of induction, maintenance, and endpoint readouts. Results and Conclusions The consensus achieved during this conference established standardization of methods and protocols to enhance the current quality of research, with the aim of eventual implementation of FMT in managing UC and the ultimate goal of improving patient outcomes.
Background Mosquito-borne diseases are an emerging threat in Europe. West Nile virus (WNV) is an arbovirus commonly transmitted in an enzootic cycle involving ornithophilic mosquitoes as major vectors. In recent years, global climate change has been identified as a significant driver of the increased spread of this virus. In Italy, outbreaks of WNV infection have been recorded every year in northern Italy. The Apulia region of southern Italy was not considered a high-risk region until 2023, when an unexpected increase in WNV infections occurred. The aim of this study was to evaluate the prevalence of anti-WNV antibodies in a wide sample of blood donors in the Apulia region of southern Italy enrolled between November 2023 and February 2024. In addition, the use of protective measures against mosquito bites was assessed. Methods A retrospective cross-sectional study was conducted on a total of 1,579 blood donors. All sera were tested for anti-WNV IgG by ELISA. Reactive serum samples were also tested by CLIA and by the plaque reduction neutralization test (PRNT). All healthy donors answered a short anonymous questionnaire. Data analysis was performed using StataMP14.0® (StataCorp LLC, CollegeStation, TX77845-4512, USA). Results The median age was 47 years (IQR: 37–53), and 75% were male. The questionnaires administered revealed that 68.6% of the subjects had not made any trips in the few weeks prior to blood sampling, and 30.5% remembered being bitten by mosquitoes in the previous 15 days or longer. While 17 samples tested by ELISA were positive for anti-WNV IgG, only six were also positive by CLIA testing. Analysis by PRNT for WNV confirmed 5 cases. The findings revealed a WNV seroprevalence of 0.32% (95% CI: 0.07–0.59). Among the subjects who tested positive, none recalled being bitten by mosquitoes or regularly using mosquito repellents. Conclusions Our study suggests the circulation of WNV in Apulia and highlights the potential human health concerns associated with this emerging virus. Strengthening the integrated surveillance system and planning adequate preventive strategies are crucial next steps to address the potential massive spread of WNV in southern Italy.
Objective Generative artificial intelligence (AI) technology, represented by large language models (LLMs), has gradually been developed for traditional Chinese medicine (TCM); however, challenges remain in effectively enhancing AI applications for TCM. Therefore, this study is the first systematic review to analyze LLMs in TCM retrospectively, focusing on and summarizing the evidence of their performance in generative tasks. Methods We extensively searched electronic databases for articles published until June 2024 to identify publicly available studies on LLMs in TCM. Two investigators independently selected and extracted the related information and evaluation metrics. Based on the available data, this study employed descriptive analysis for a comprehensive systematic review of LLM technology related to TCM. Results Ten studies published between 2023 and 2024 met our eligibility criteria and were included in this review, including 40% LLMs in the TCM vertical domain, 40% containing TCM data, and 20% honoring the TCM contribution, with a foundational model parameter range from 1.8 to 33 billion. All included studies used manual or automatic evaluation metrics to evaluate model performance and fully discussed the challenges and contributions through an overview of LLMs in TCM. Conclusions LLMs have achieved significant advantages in TCM applications and can effectively address intelligent TCM tasks. Further in-depth development of LLMs is needed in various vertical TCM fields, including clinical and fundamental research. Focusing on the functional segmentation development direction of generative AI technologies in TCM application scenarios to meet the practical needs-oriented demands of TCM digitalization is essential. Graphical abstract: http://links.lww.com/AHM/A152.
Background The mechanisms underlying muscle alteration associated to alcoholic liver disease (ALD) are not fully understood and the physiopathologic mediators of the liver–muscle interplay remains elusive. We investigated the role of circulating extracellular vesicles (EVs) in ALD as potential mediators of muscle atrophy. Methods We established a mouse model of sarcopenia associated to ALD, by feeding mice with an alcoholic diet for 8 weeks. We investigated the effects of hepatic and circulating EVs isolated from these mice (EtOH mice; n = 7 females) on muscle cell cultures, comparing them with EVs from mice fed with a standard diet (CD mice; n = 6 females). Additionally, we examined the impact of circulating EVs from patients with alcohol‐related cirrhosis (7 males and 2 females, mean age 55.4 years) on primary human muscle cells, comparing them with EVs from age‐matched healthy subjects (6 males and 3 females). We analysed the miRNA profile of the EVs to identify potential mediators of ALD‐associated sarcopenia. Results We demonstrated that circulating EVs were internalized by muscle cells and that EVs from ALD mice and cirrhotic patients caused alteration in the myogenic program. Molecular analysis revealed that serum EVs from ALD mice reduced protein synthesis in C2C12 cells, decreasing levels of p‐AKT/AKT (−54.6%; p < 0.05), p‐mTOR/mTOR (−54.5%; p < 0.05) and p‐GSK3(Ser9)/GSK3 (−30.63%). Similarly, hepatic EVs induced defects in muscle differentiation, with reduced levels of p‐AKT/AKT (−39.1%; p < 0.05), p‐mTOR/mTOR (−30.1%; p < 0.05) and p‐GSK3(Ser9)/GSK3 (−40%). C2C12 cells treated with either serum or hepatic EtOH‐EVs exhibited upregulated expression of muscle‐specific atrophy markers Atrogin‐1 (+61.2% and +189.5%, respectively; p < 0.05) and MuRF1 (+260.4% and +112.5%, respectively; p < 0.05), along with an increased LC3‐II/‐I ratio (+131.5% and +40.2%, respectively; p < 0.05), indicating enhanced autophagy. MiRNA analysis revealed that both circulating and hepatic EVs from ALD mice showed elevated expression of miR‐21, miR‐155, miR‐223 and miR‐122 (+230% and +292%, respectively; p < 0.01) suggesting their potential role in sarcopenia. Human muscle cells exposed to EVs from cirrhotic patients exhibited reduced protein synthesis and upregulated Atrogin‐1 (+113%; p < 0.05) and MuRF1 (+86.3%; p < 0.05), indicating proteasome activation. Circulating EVs of alcoholic patients showed upregulation of the same miRNAs observed in EtOH mice, including the liver‐specific miR‐122 (+260%; p < 0.05) suggesting, also in human liver disease, a hepatic origin of circulating EVs. Conclusions Our study highlights the critical role of ALD‐derived circulating EVs in affecting muscle homeostasis and myogenic program, suggesting potential therapeutic targets for mitigating muscle loss in ALD.
Introduction Computational sciences have significantly contributed to characterizing airway disease phenotypes, complementing medical expertise. However, comparing studies that derive phenotypes is challenging due to varying decisions made during phenotyping. We conducted a systematic review to describe studies that utilized unsupervised computational approaches for phenotyping obstructive airway diseases in children and adults. Methods We searched for relevant papers published between 2010 and 2020 in PubMed, EMBASE, Scopus, Web of Science, and Google Scholar. Additional sources included conference proceedings, reference lists, and expert recommendations. Two reviewers independently screened studies for eligibility, extracted data, and assessed study quality. Disagreements were resolved by a third reviewer. An in-house quality appraisal tool was used. Evidence was synthesized, focusing on populations, variables, and computational approaches used for deriving phenotypes. Results Of 120 studies included in the review, 60 focused on asthma, 19 on severe asthma, 28 on COPD, 4 on asthma-COPD overlap (ACO), and 9 on rhinitis. Among asthma studies, 31 focused on adults and 9 on children, with phenotypes related to atopy, age at onset, and disease severity. Severe asthma phenotypes were characterized by symptomatology, atopy, and age at onset. COPD phenotypes involved lung function, emphysematous changes, smoking, comorbidities, and daily life impairment. ACO and rhinitis phenotypes were mostly defined by symptoms, lung function, and sensitization, respectively. Most studies used hierarchical clustering, with some employing latent class modeling, mixture models, and factor analysis. The comprehensiveness of variable reporting was the best quality indicator, while reproducibility measures were often lacking. Conclusion Variations in phenotyping methods, study settings, participant profiles, and variables contribute to significant differences in characterizing asthma, severe asthma, COPD, ACO, and rhinitis phenotypes across studies. Lack of reproducibility measures limits the evaluation of computational phenotyping in airway diseases, underscoring the need for consistent approaches to defining outcomes and selecting variables to ensure reliable phenotyping.
Background/Objectives: Poor nutrition in early life represents a relevant public health issue globally. The current study aimed to characterize eating habits among preschoolers and investigate the relationship with parents’ nutritional status. Methods: A secondary analysis of a cross-sectional study carried out at the Child Dentistry Clinics of the Istituto Stomatologico Italiano, Milan, Italy, including 171 patients aged 12–71 months and their parents, was conducted. Demographic data, anthropometric measurements, and information on children’s eating habits were collected. Results: The duration of exclusive breastfeeding was 5.9 (±6.8) months in 65% of children, and complementary feeding began at a mean (±SD) of 6.2 (±1.7) months in accordance with present recommendations. In contrast, the consumption of fruit juice 3.2 (±2.9) times/week, a protein intake of 3.0 (±0.6) g/kg, and a sugar intake of 20 (±8)% were over guideline limits. Overweight/obese children were introduced to cow’s milk earlier (p = 0.033) and consumed a higher percentage of total fats (p = 0.026) whilst consuming a lower percentage of carbohydrates (p = 0.050). In terms of children with both parents being obese or overweight, they consumed more carbohydrates (p = 0.048). Finally, we found that birth weight correlated positively with maternal BMI (ρ = 0.159; p < 0.05). The number of offspring correlated positively with the weekly frequency of sugar-sweetened beverage consumption before 24 months (ρ = 0.282; p < 0.001) whilst correlating negatively with the age of cow’s milk introduction (ρ = −0.226; p < 0.01). Conclusions: Our findings, according to recommendations, suggest that the prevention of obesity needs to begin in infancy. As parents play a pivotal role in establishing children’s food choices, nutritional education aimed at families is needed.
Background The Italian Interceptor project is aimed at identifying a prodromal dementia phase and developing a nationwide organizational model. This study compares the sociodemographic and neuropsychological characteristics of mild cognitive impairment non‐converters (MCI‐NC) and MCI‐converters (MCI‐C) to dementia, including Alzheimer's disease (AD), enrolled during the Interceptor project. Methods Sociodemographic, clinical, and neuropsychological data of MCI individuals were collected at baseline (December 2018 to October 2020) and every six‐month follow‐up visit for 3 years. Logistic regression and Random Forest classifier were used to describe the study population. Results From 356 participants, 104 were MCI‐C, whereas 252 were MCI‐NC. Compared to MCI‐NC, MCI‐C were predominantly female (p = 0.020), older (p < 0.001), and more cognitively impaired (p < 0.001). Higher physical activity was protective for progression (p < 0.001), but no difference was observed for smoking exposure (p = 0.312) between the two groups. Similar results were found for AD individuals compared to MCI‐C/non‐AD. The ROC curve based on a Random Forest classifier distinguishing MCI‐C from MCI‐NC showed an area under the curve (AUC) of 0.7347. Conclusions Our findings confirm previous evidence in literature and may increase the insight on dementia pathology and help in defining intervention strategies to prevent or slow down disease progression.
Adult patients with undiagnosed genetic disorders suffer most from diagnostic delay and seldom appear in cohort studies investigating the diagnostic yield in medical genetic clinical practice. Here we present the results of the diagnostic activity performed in a referral center on 654 consecutive, unselected adult subjects presenting with molecularly unsolved conditions. More than 50% of the referred individuals were affected by syndromic or isolated intellectual disability. Different molecular approaches, including clinical/whole exome sequencing (CES/WES), chromosomal microarray analysis (CMA), and/or targeted gene or gene panel sequencing were used to analyze patients' DNA. Definitive diagnosis was obtained in over 30% of individuals. The most sensitive methodology was CES/WES, which allowed us to reach a diagnosis in over 50% of the 162 solved cases. Despite the great variety of clinical presentations, our results represent a reliable picture of the “real world” daily routine in an outpatient medical genetics clinic dedicated to diagnostic activity, and contribute to better understand the great value of a definitive molecular diagnosis in adults, either for the affected individuals and their families. This retrospective analysis demonstrates the importance of adopting a genomic‐first approach within the diagnostic process for adults affected with unsolved rare conditions.
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1,324 members
Domenico Genovese
  • Biologicals and Biotechnologicals Unit National Center for Drug Monitoring and Evaluation
Paola Di Bonito
  • Department of Infectious, Parasitic and Immune-mediated Diseases
Aurelio Cafaro
  • CNAIDS - National AIDS Center
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