Università Cattolica del Sacro Cuore
Recent publications
The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10-4 (DXS7133) and 1.07x10-2 (DXS10135), being 5.2 times higher in the male (4.16 ×10-3) than in the female (8.01 ×10-4) germline.
Background In Italy, clinical ethics is not well institutionalized. On February 7, 2023, the Italian Ministry of Health published four long-awaited decrees regarding the reorganization of ethics committees. Aim: The aim of this article is twofold: firstly, we aim to briefly summarize the development of clinical ethics in Italy from a legislative point of view; secondly, we aim to examine how Italian regions are implementing the part of the new decrees on the organization of ethics committees that concerns clinical ethics. Methods: As for the first aim, we conducted a critical interpretive review (CIR). The search was restricted to the opinions offered by the Italian National Bioethics Committee (CNB) and to the major Italian legislative decrees on the topic. Regarding the second aim, we conducted an online search through Regional Official Bulletins of each Italian region. Results: Our analysis showed that despite the recommendations from the CNB to differentiate Research Ethics Committees (RECs) and Clinical Ethics Committees (CECs), over the years legislative attention has mainly focused on RECs and pharmacological matters. The new decrees allow regions to be flexible in organizing their activities. However, it emerged that only four regions (Veneto, Friuli-Venezia Giulia, Puglia, Emilia-Romagna) have split the roles, while all the other regions have entrusted both roles to a single committee. Conclusion: The risk for Italy is to take a step backward in the development of clinical ethics. Possible solutions could be either making Local Ethics Committees (CELs) mandatory or institutionalizing Ethics Consultation services (ECSs).
Background Headache is the most common presenting symptom of intracranial hypotension (IH), and it usually has orthostatic features. However, the outcome of IH and the persistence and characteristics of headache are still overlooked. Methods In this cohort study, patients diagnosed with IH in our institute between 2018 and 2024 were included. Demographical and clinical data, headache characteristics, etiology, type of treatment (epidural blood patch (EBP), surgical or conservative), and MRI findings were collected. We conducted follow‐up visits on headache characteristics and the persistence of headache ≥ 12 months of EBP/conservative treatment. Results Forty‐five patients with a diagnosis of IH were included (mean age of 53.0 ± 14.9 years); 35 (77.8%) were diagnosed with spontaneous intracranial hypotension (SIH) and 10 (22.2%) with secondary IH. EBP was performed on 22 patients (48.9%). Headache was the most common symptom at presentation, in 38/45 patients (84.4%), with orthostatic features in 32 (71.1%). Forty‐four patients (97.8%) had brain MRI abnormalities. Follow‐up visits were conducted after 31.6 ± 15.7 months; 28/41 (68.3%) patients reported headache during the first 12 months, and 22/41 (53.7%) ≥ 12 months. Headache persistence for ≥ 12 months was significantly lower in patients who received EBP (27.3%) compared to those who did not (63.2%) (p = 0.021). Logistic regression showed that receiving EBP was the only factor significantly associated with reduced likelihood of persistent headache for ≥ 12 months (OR = 0.082, 95% CI [0.007,0.903], p = 0.041). Radiological features differed significantly between patients with SIH and those with secondary etiologies. Conclusion A large proportion of patients with IH continue to experience headache beyond one year; EBP was the only predictor of headache persisting ≥ 12 months.
Purpose To evaluate anatomical and functional outcomes of Faricimab therapy on a case of polypoidal choroidal vasculopathy (PCV) refractory to previous treatments. Major findings A 56-year-old patient with PCV presenting with a large pigment epithelial detachment (PED) showed best-corrected visual acuity (BCVA) improvement, subretinal fluid (SRF) reduction and PED height reduction at 2 months follow up after a loading phase of 4 monthly Faricimab injections. The patient had previously undergone Aflibercept, Brolucizumab and photodynamic therapy (PDT) treatments with a suboptimal response. Conclusion Despite Faricimab proving itself as an efficient alternative in a case of PCV poorly responsive to previous treatments, definite evidence still needs to be confirmed in larger studies.
Sudden cardiac death represents a significant public health concern and is one of the leading causes of early mortality worldwide. The escalating use of illicit drugs, approximately 269 million people in 2018, represents a growing public health. Some of these drugs are stimulants that may have multiple effects on the cardiovascular system including the cardiac rhythm, then substance abuse increases the risk of sudden death. For instance, drugs like cocaine and methamphetamine, may be responsible for myocardial infarction as well as occlusive coronary thrombosis with acute infarction. The consequences of such occurrences are far-reaching, with considerable effects not only on the victims but also on their families. Sudden cardiac death presents considerable forensic diagnostic challenges, particularly in the presence of high but non-lethal drug levels increasing the possibility of a genetic predisposition to malignant arrhythmogenic events. Our review aims to discuss the complex relationship between illicit drugs and congenital cardiac disorders, stressing the forensic issues deriving from their interaction and from the differential diagnosis. Indeed, especially when a non-lethal dose of illicit drug in presence of ambiguous microscopic findings is reported, being able to discriminate between a toxic sudden death (entailing criminal implications for the drug dealer) and a natural sudden death is a forensic issue of upmost importance.
To investigate metabolic parameters from baseline 18F-FDG PET/CT as predictors of pathological complete response (pCR) to neoadjuvant chemotherapy (NAC) and disease recurrence in locally advanced breast cancer (LABC) patients. From 142 LABC in 137 patients (bilateral-synchronous BC: 5/137), the following parameters from baseline (pre-treatment) 18F-FDG PET/CT were retrospectively analyzed, along with clinic-histological data: primary tumor activity (SUVmax, SUVmean, SUVpeak, tumor-to-liver ratio—TLR-, MTV, TLG); lymphoid organs activity (spleen and bone marrow SUVmax and SUVmean, spleen-to-liver ratio—SLR-, bone marrow-to-liver ratio—BLR); and PET-positive lymph-nodes’ number. Predictors of pCR and recurrence-free survival (RFS) were assessed by univariable logistic regression and Cox regression (significant or suggestive association: p < 0.05; p < 0.10). 74/142 tumors were “Luminal A/B HER2−”, 44/142 “Luminal B HER2+/HER2+”, 24/142 TNBC; pCR after NAC occurred in 26/142 tumors (18.3%) and disease recurrence at follow-up (45 ± 18.1 months) in 25/127 assessable patients (19.7%). Significant or suggestive predictors of NAC response, in Luminal A/B HER2−: lower spleen SUVmax and patients’ age (OR 0.06; 0.93) for pCR; lower TLRmax, TLRmean and BLRmax (OR 1.33; 1.22; and 26.42) for residual disease. Significant negative RFS predictors: higher SUVmax, SUVmean, SUVpeak (HR 1.10; 1.15; 1.11), TLRmax and TLRmean (HR 1.02; 1.00), MTV and TLG (HR 1.32; 1.26) in Luminal A/B HER2−; higher spleen SUVmax, PET-positive nodes’ number and patients’ age (HR 6.24; 1.20; 1.08) in Luminal B HER2+/HER2+. Primary tumor and lymphoid organs parameters at baseline 18F-FDG PET/CT resulted as predictors of NAC response and prognosis in LABC patients, respectively, reflecting the BC cells’ proliferative activity and metabolic burden, and the role of tumor-induced immune-system activation on tumors’ behavior and treatment responsiveness. In LABC candidates to NAC, baseline PET information could improve treatment planning and prognostic stratification.
Introduction Humanitarian crises exacerbate the vulnerability of already fragile healthcare systems and significantly increase the risk of infectious disease outbreaks in low- and middle-income countries (LMICs). This systematic review aims to evaluate strategies and interventions implemented in LMICs to prevent and manage infectious diseases outbreaks during humanitarian crises from 2018 to 2023. Methods A comprehensive literature search was conducted across Scopus, PubMed, and Web of Science, adhering to the PRISMA guideline and the SPIDER framework to identify relevant studies. The review included studies published between 2018 and 2023 focusing on infectious disease prevention and management in LMICs during humanitarian crises. Study quality was assessed using the Joanna Briggs Institute checklist. Results Eleven studies were identified from 1,415 unique articles. These studies addressed diverse interventions, including vaccination campaigns, epidemiologic surveillance, and integrated health services. Cholera outbreaks in Haiti and Mozambique, triggered by gang violence, internal migration, and Cyclone Kenneth, were addressed through epidemiological surveillance, case management, WASH (Water, Sanitation, and Hygiene) service improvements, and oral vaccination campaigns. Mathematical models guided cholera vaccination in Thailand's refugee camps. In India, surveillance and rapid response measures successfully prevented infectious disease outbreaks during the Kumbh Mela gathering. The Philippines improved response times to climate-related disasters using point-of-care testing and spatial care pathways. Despite challenges in Yemen, evaluating malaria surveillance systems led to recommendations for integrating multiple systems. Uganda developed a national multi-hazard emergency plan incorporating vaccination, communication, and risk management, proving useful during the refugee crisis and Ebola outbreak. In South Sudan, integrating immunisation services into nutrition centres increased vaccination coverage among children. Nigeria experienced a rise in measles cases during armed conflicts despite vaccination efforts, while visual communication strategies improved SARS-CoV-2 vaccination rates. Conclusion These interventions highlight the importance of multimodal, targeted, and collaborative responses to address complex health crises without relying on unsustainable investments. Despite the effectiveness of these interventions, infrastructure limitations, insecurity, and logistical constraints were noted. These findings emphasize the need for adaptable and resilient healthcare systems and international collaboration to safeguard the right to health during complex humanitarian crises.
In this paper, we analyze resource allocation and explore the life-cycle evolution of health care expenditures (HCE) by investigating the effect of age, morbidity and time to death (TTD) on HCE for the young-old population. Using a rich 10-year population-level panel, we estimate a fixed-effects model to analyze HCE patterns for different health care services and by primary disease. Our main findings indicate that the effect of age on total HCE is lower when morbidity is controlled for while it increases when we also condition on TTD. This indicates that, compared to those incurred at older ages, earlier deaths are associated with higher HCE. At younger ages, increased expenditures are also observed as the severity of the health condition deteriorates. We also show that expenses for out-of-hospital services mainly drive the evolution of total HCE by age, while inpatient expenses are primarily determined by morbidity and TTD. In the end-of-life period, hospital costs continue to rise, whereas expenses incurred for all other services fall sharply in the year of death. We prove that expenses for long-lasting conditions start to increase long before death, while those for acute conditions grow exponentially only in the last two years of life. Our work contributes to informing cost-containment policies through a better understanding of HCE evolution during the life cycle and in the last years of life.
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.
To reduce the environmental impact of food production has spurred the development of digital tools to promote sustainable eating, yet little research examined the psychosocial predictors of their adoption. This study addresses this gap by applying the Unified Theory of Acceptance and Use of Technology, including performance expectancy, effort expectancy, social influence, and facilitating conditions as predictors of technology use. To enhance the model’s predictiveness, we included variables from the Model of Goal-Directed Behavior—attitude, anticipated emotions, and desire— as well as sociodemographic factors. 511 participants completed an online survey in which they evaluated a customized app designed to promote sustainable eating. Results showed that performance expectancy was the strongest predictor of attitude, anticipated emotions, and intention, whereas effort expectancy was not. Social influence and facilitating conditions predicted desire, which in turn predicted intention, and thus led to app download. Facilitating conditions and emotions were more influencial for women, older participants showed a higher desire despite high effort expectation, and those with higher education levels downloaded the app more due its perceived ease of use. These findings suggest that developers should focus on enhancing the emotional appeal and perceived value of the app while addressing the users’ diverse needs based on gender, age, and education.
Inhibition is a fundamental component of self-regulation which can be defined as the ability to suppress an automatic response to execute an appropriate one. Given its impact on adaptation, wellbeing, and life satisfaction, the construct of inhibition has been extensively investigated in literature from manifold perspectives. Theoretical models of inhibition have highlighted its multi-componential nature, giving reason of why a multitude of experimental and clinical tasks are commonly used in inhibition research and assessment. Considering the diverse definitions of this function, we call for an enhanced comprehension of the mechanisms underlying response inhibition, which are inherent in each measure employed to assess it. The present contribution aims to propose a two-dimensional taxonomy of inhibition measures, suggesting that the most used tasks assessing inhibition can be mapped considering two continuous dimensions largely involved in inhibition, namely, cognitive complexity (low-high) and emotional processing (hot-cold). The proposed taxonomy was conceptualized to guide researchers and clinicians in selecting the relevant measure among the available tasks when they assess inhibitory functions. Our taxonomy could contribute to establishing consistent criteria and thus further the constitution of a common ground for inhibition tasks’ classification.
Objectives Acute chikungunya virus infection often leads to chronic post-infection arthritis, but investigation and evaluation of treatment is hampered by the subjectivity of symptoms. This study was designed to evaluate ultrasound scores and serum inflammatory markers as objective measures for the severity of chronic post-chikungunya arthritis. Methods Patients with acute chikungunya virus infection were enrolled in a prospective study and followed up at 3, 6 and 12 months. Assessments included both a physical exam and standardised ultrasound examination of 40 joints. Symptom severity and patient reported outcomes were recorded, and serum inflammatory markers were measured. Global ultrasound synovitis and tenosynovitis scores were calculated and correlation of ultrasound and serum markers with clinical symptoms and outcomes was analysed. Results 60 patients (mean age 34 years, 67% female) were followed up. Widespread joint involvement was observed in the acute infection phase. This was followed by increasing involvement of small joints contributing to persistent symptoms in 57% of patients at 3 months and 30% at 12 months. Global ultrasound scores for synovitis at 3 months correlated with tender joint counts (r = 0.54, p< 0.0001), pain severity (r = 0.59, p< 0.0001), musculoskeletal stiffness (r = 0.42, p< 0.001) and RAPID3 scores (r = 0.59, p< 0.0001), confirmed at 6 and 12 months. Serum inflammatory markers were poorly associated with persistent symptoms during follow-up. Conclusion Global ultrasound scores for synovitis were found to be a relevant measure to support clinical observations in studies of chronic post-chikungunya joint disease.
Acute coronary syndromes (ACS) continue to pose significant challenges for clinical practitioners, particularly regarding the prediction of mid- to long-term outcomes. This study aims to investigate the impact of in-hospital bleeding (IHB) at one-year follow-up in patients admitted for ACS. Data from 23,270 patients enrolled in the international PRAISE registry and discharged after ACS were analyzed. A total of 1,060 patients experienced IHB, while 18,765 did not; 3,445 were excluded due to missing data. The primary endpoint was all-cause mortality at 1 year. Secondary endpoints included major bleeding, reinfarction, and composite endpoints at 1 year. Patients with IHB were older, more frequently female, and had a higher prevalence of cardiovascular risk factors (all p < 0.05). At discharge, IHB patients were less likely to receive optimal medical therapy. At the one-year follow-up, all-cause mortality, major bleeding, and reinfarction were significantly higher in the IHB group (all p < 0.001). Bivariate analysis showed a strong association between IHB and all the outcomes of interest (all OR > 1; all p < 0.001). These associations remained significant even after adjusting for several covariates, except for reinfarction (OR 1.3; 95% CI 0.9–2.11; p = 0.149). Age, female sex, hypertension, and peripheral artery disease were found to be independent predictors of IHB, while DES implantation, radial access and left ventricular ejection fraction were identified as protective factors. IHB is a hallmark of frailty in ACS patients; therefore, greater attention should be given during follow-up to patients experiencing this condition.
Post-transplant high-dose cyclophosphamide (PTCy) is effective in overcoming the negative impact of HLA disparity in the haploidentical setting. In the light of these results, we investigated the efficacy and safety of PTCy, with a calcineurine inhibitor and mycophenolate mofetil, in improving clinical outcomes of haematopoietic cell transplantation (HCT) from mismatched unrelated donor (MMUD) in patients with acute myeloid malignancies by reducing aGvHD incidence and severity. A prospective single arm, phase II study (PHYLOS - NCT03270748) was conducted by the Italian GITMO. The primary objective was the cumulative incidence (CI) of grade II-IV aGvHD. Conditioning regimen for all patients was busulfan (total dose 12.8mg/kg) and fludarabine (total dose 160mg/m2). The ethical committees of the participating centers approved the study (EURODRACT 2017-003530-85). Seventy-seven consecutive patients (AML: 64; MDS: 13) were enrolled at 26 Italian transplant centers (January 2020-November 2022). Median age was 53 years (range 19-65). The 100-day cumulative incidence (CI) of grade II-IV aGvHD was 18.2% (95%CI: 10.6-27.6) and 6.5% (95%CI: 3.1-15.1) for grade III-IV. Seventy-one patients (92%) had full-donor chimerism with complete neutrophil engraftment by day +30.One-year CI of chronic GvHD (cGvHD) was 13.4% (95%CI: 6.9-22.1). One-year CI of non-relapse mortality was 9.1% (95%CI: 4.0-16.9), and the relapse rate was 23.8% (95%CI: 14.9-33.9). One-year overall survival and graft-relapse-free survival were 78.6.% (95%CI: 67.4-86.3) and 55.3% (95%CI: 43.4-65.7), respectively. Our study in a homogeneous patient cohort suggests that PTCy leads to a low rate of aGvHD and improves clinical outcomes of MMUD transplantation.
Background Smart systems for multiple daily injections (Smart MDI) integrate continuous glucose monitoring, connected insulin pens, smartphone apps, and cloud-based data storage to provide bolus and corrective dose suggestions, reminders/alerts, automatic tracking and sharing of insulin therapy, and glycemic data to users, caregivers, and providers. This is an expert consensus on the clinical value of Smart MDI and critical points for implementation in adults and children/adolescents with diabetes. Methods A nominal group technique combined with the estimate-talk-estimate approach was employed to achieve consensus among panel members from the Italian Intersociety Technology and Diabetes Study Group with expertise in pediatric and adult diabetes care. Results The expert consensus indicated that glycemic profiles can be improved by using bolus dose suggestions based on glucose values, planned meals, the insulin-to-carbohydrate ratio, correction factors, and consideration of insulin-on-board. Automatic remote sharing of patient data on glycemia and insulin therapy allows clinicians to make more appropriate and timely therapeutic recommendations based on objective data. Dose tracking, bolus reminders/alerts, and reduced hypoglycemia and associated anxiety achieved through Smart MDI may improve adherence. Conclusions Smart MDI can reduce treatment burden while improving the daily experiences and glycemic outcomes for adults and children/adolescents with type 1 or type 2 diabetes. However, high-quality clinical data are lacking, and more evidence is needed to compare the effects of Smart MDI and other advanced insulin delivery systems on glycemic and patient-reported outcomes.
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14,894 members
Andrea Gaggioli
  • Department of Psychology
Carlo Torti
  • Department of Safety and Bioethics
Angelo Raffaele Massaro
  • Clinica delle Malattie Nervose e Mentali
Sabina strano rossi
  • Institute of Legal Medicine and Insurance
Vania Patrone
  • Department for Sustainable food process
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Milan, Italy