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Accidents are the main cause of injury in children, more than half events happen at home. Aims of this study were to assess if SARS-CoV-2 lockdown influence emergency department (ED) visits due to children domestic accident (DAs) and to identify factors associated with hospitalization. This was a multicentre, observational, and retrospective cohort study involving 16 EDs in Italy and enrolling children (3–13 years) receiving a visit in ED during March–June 2019 and March–June 2020. Risk factors for hospitalization were identified by logistic regression models. In total, 8860 ED visits due to domestic accidents in children occurred before (4380) and during (4480) lockdown, with a mean incidence of DA of 5.6% in 2019 and 17.9% in 2020 (p < 0.001) (IRR: 3.16; p < 0.001). The risk of hospitalization was influenced by the type of occurred accident, with fourfold higher for poisoning and twofold lower risk for stab-wound ones. In addition, a higher risk was reported for lockdown period vs 2019 (OR: 1.9; p < 0.001), males (OR: 1.4; p < 0.001), and it increased with age (OR: 1.1; p < 0.001). Conclusions: The main limitation of this study is the retrospective collection of data, available only for patients who presented at the hospital. This does highlight possible differences in the total number of incidents that truly occurred. In any case, the COVID-19 lockdown had a high impact on the frequency of DAs and on hospitalization. A public health campaign aimed at caregivers would be necessary to minimize possible risks at home. What is Known: • In Italy, domestic accidents are the second leading cause of paediatric mortality after cancer. • During the first SARS-CoV-2 lockdown in 2020, a sharp decrease in the total number of Emergency Departments visits for all causes was observed, both in children and in adults. What is New: • During the first SARS-CoV-2 lockdown in 2020, domestic accidents involving children increased threefold from the previous year. • Higher risk of hospitalization was showed in minors accessing during 2020 vs 2019, in males than in females and it increased with advancing age. Considering the type of injury, a significant higher risk of hospitalization for poisoning was observed. [ABSTRACT FROM AUTHOR]

Objective: Chronic comorbidities are common in people with multiple sclerosis (PwMS), thus worsening their prognosis and quality of life, and increasing disease burden. The aim of the present study was to evaluate the prevalence of common comorbidities in PwMS in Tuscany (Central Italy) and to compare it with the general population. Methods: The prevalence of comorbidities, including diabetes, chronic obstructive pulmonary disease (COPD), hypertension, stroke, heart failure (HF), cardiac infarction and ischemic heart disease (IHD), was assessed in PwMS and in general population resident in Tuscany, aged > 20 years, using administrative data. Results: In total, we identified 8,274 PwMS. Among them, 34% had at least one comorbidity, with hypertension being the most common (28.5%). Comparing PwMS with the general population, PwMS had a higher frequency of hypertension and stroke when considering the whole group, and of diabetes, COPD, and IHD when considering sex and age subgroups. This increased risk was especially evident in the young and intermediate age groups, where multiple sclerosis may play an important role as risk factor for some comorbidities. In PwMS, as well as in the general population, prevalence of chronic diseases was higher in males and increased with age. Conclusions: Comorbidities frequently coexist with multiple sclerosis and they may have an impact on this complex disease, from the health, clinical, and socioeconomic points of view. Therefore, a routine screening of chronic comorbidities should be a crucial step in clinical practice, as well as the promotion of healthy lifestyles to prevent the onset and to reduce their burden. [ABSTRACT FROM AUTHOR]

Background: Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease negatively impacting patients' physical, psychological and social well-being with a significant economic burden. Objectives: The study estimates MS burden and cost of illness in Italy from a societal perspective in 2019. Methods: Information on the impact of the disease on daily activities, symptoms, employment, resource utilization and the role of caregivers was collected through questionnaires completed by 944 patients and caregivers. Results were stratified according to both disease severity and payer. Mean costs and overall costs were extrapolated from the sample to the Italian MS population considering published distribution of severity. Results: The study showed a great impact of the disease on daily and work activities increasing with the disability. The overwhelming burden of fatigue emerged. Mean annual costs were estimated at €39,307/patient (€29,676, €43,464 and €53,454 in mild, moderate and severe cases, respectively). Direct healthcare costs were the major component (€21,069), followed by indirect costs (€15,004). The overall cost of the disease in Italy was €4.8 billion. The National Healthcare System (NHS) sustained most of the costs (80%), most notably direct healthcare costs, while patients paid almost all non-healthcare expenses. Conclusions: This study confirmed that MS carries a substantial burden to patients and society, highlighting the need for awareness of this disease. [ABSTRACT FROM AUTHOR]

Objective: To evaluate mortality for Parkinson's disease (PD) in Italy during a long time period (1980-2015) and to discuss the role of possible general and specific influencing factors.Methods: Based on mortality data provided by the Italian National Institute of Statistics, sex- and age-specific crude mortality rates were computed, for the whole country and for its main geographical sub-areas. Rates were standardized using both direct (annual mortality rates AMRs) and indirect (standardized mortality rates SMRs) methods. SMRs were used to evaluate geographical differences, whereas AMRs and joinpoint linear regression analysis to study mortality trends.Results: Considering the entire period, highest mortality rates were observed in males (AMR/100,000: 9.0 in males, 5.25 in females), in North-West and Central Italy (SMR > 100). Overall PD mortality decreased from mid-eighties onwards and then rapidly reversed the trend in the period 1998-2002, rising up to a maximum in 2015, with some differences according to sex and geographical areas.Conclusions: Several factors may have contributed to the rapid inversion of decreasing trend in mortality observed in the last part of XX century. Possible explanations of this rising trend are related to the increasing burden of PD (especially in males and in certain Italian regions), caused by different factors as population aging, physiological prevalence rise due to incidence exceeding mortality, and growing exposure to environmental or occupational risk factors. In addition, the accuracy of death certificate compilation could account for geographical differences and for the temporal trend. The role of levodopa and recently introduced dopaminergic drugs is also discussed. [ABSTRACT FROM AUTHOR]

Background and Rationale: An increase of prevalence and incidence of multiple sclerosis (MS) has been reported in several countries, especially taking into account a long-term evaluation. This increasing trend often reflects improved case identification and ascertainment due to the refinement of diagnostic criteria. The aim of this study was to update the prevalence rate of MS in Tuscany (central Italy) as of 2017, and to assess if there has been an increasing trend of prevalence in this Region considering a short period of analysis, from 2014 to 2017.Methods: To capture prevalent cases, a case-finding algorithm based on administrative data, previously created and validated, was used. As data sources, we considered hospital discharge records, drug-dispensing records, disease-specific exemptions from copayment to health care, home and residential long-term care, and inhabitant registry.Results: As of January 1, 2017, 7809 cases were identified, of which 69.4% were females and 30.6% were males. Considering temporal variation, an increasing trend was observed, with standardized rates rising from 189.2 in 2014 to 208.7 per 100,000 in 2017.Conclusions: Results confirm that prevalence increases every year, probably mainly due to the difference between incidence and mortality, resulting in an increasing trend. Moreover, administrative data may accurately identify MS patients in a routinary way and monitor this cohort along disease care pathways. [ABSTRACT FROM AUTHOR]

Background: Italy is a high-risk area for multiple sclerosis with 110,000 prevalent cases estimated at January 2016 and 3400 annual incident cases. To study multiple sclerosis epidemiology, it is preferable to use population-based studies, e.g., with a registry. A valid alternative to obtain data on entire population is from administrative sources.Objective: To estimate the incidence of multiple sclerosis in Tuscany using a case-finding algorithm based on administrative data.Methods: In a previous study, we calculated the prevalence in Tuscany using a validated case-finding algorithm based on administrative data. Incident cases were identified as a subset of prevalent cases among those patients not traced in the years before the analysis period, and the date of the first multiple sclerosis-related claim was considered the incidence date of multiple sclerosis diagnosis. We examined the period 2011-2015.Results: We identified 1147 incident cases with annual rates ranged from 5.60 per 100,000 in 2011 to 6.58 in 2015.Conclusions: We found a high incidence rate, similarly to other Italian areas, especially in women, that may explain the increasing prevalence in Tuscany. To confirm this data and to calculate the possible bias caused by our inclusion method, we will validate our algorithm for incident cases. [ABSTRACT FROM AUTHOR]

Tuscany (Central Italy) is a high-risk area for multiple sclerosis (MS) with a prevalence of 188 cases per 100,000 at 2011, and it is characterized by a heterogeneous geographic distribution of this disease. Our objective was to update prevalence at 2013 and to evaluate the presence of spatial clusters in Tuscany. The MS prevalence was evaluated on 31 December 2013 using a validated case-finding algorithm, based on administrative data. To identify spatial clusters, we calculated standardized morbidity ratios (SMRs) for each Tuscan administrative municipality. In addition to the classical approach, we applied the hierarchical Bayesian model to overcome random variability due to the presence of small number of cases per municipality. We identified 7330 MS patients (2251 males and 5079 females) with an overall prevalence of 195.4/100,000. The SMR for each Tuscan municipality ranged from 0 to 271.4, but this approach produced an extremely non-homogeneous map. On the contrary, the Bayesian map was much smoother than the classical one. The posterior probability (PP) map showed prevalence clusters in some areas in the province of Massa-Carrara, Pistoia, and Arezzo, and in the municipalities of Siena, Florence, and Barberino Val d'Elsa. Our prevalence data confirmed that Tuscany is a high-risk area, and we observed an increasing trend during the time. Using the Bayesian method, we estimated area-specific prevalence in each municipality reducing the random variation and the effect of extreme prevalence values in small areas that affected the classical approach. [ABSTRACT FROM AUTHOR]

Italy is a high risk area for multiple sclerosis (MS) as confirmed by the numerous prevalence and incidence studies conducted in several regions/districts of the country. Nevertheless, there are no recent published epidemiological data, nor studies about the total prevalence of MS in Italy. Our aim was to update as of 2015 the prevalence rates of MS in different geographical areas using already published epidemiological studies, and to estimate the overall prevalence of the disease in Italy. We made a search in MEDLINE database of all published studies on epidemiology of MS in Italy. Then, we applied, to the already published prevalence data, the last published incidence and mortality rates to recalculate, as of 2015, the prevalence of MS. So, we calculated the mean prevalence rate from our extrapolations, and we applied it to the population in 2015 to estimate the number of MS patients in Italy. Our prevalence extrapolations ranged from 122 to 232 cases/100,000 in the mainland and Sicily, with an average of 176/100,000, and from 280 to 317 cases/100,000 in Sardinia with an average of 299/100,000. Applying these media to the Italian population in 2015, we obtained an estimate of more than 109,000 MS patients in Italy. Our estimates were higher than the latest published rates but consistent with the annual increase of prevalence due to incidence that exceeds mortality, with the increase of survival and, maybe, with the probable increase of incidence. [ABSTRACT FROM AUTHOR]

Krabbe disease (KD) is a rare autosomal recessive disorder caused by mutations in the galactocerebrosidase gene (GALC). Defective GALC causes aberrant metabolism of galactolipids present almost exclusively in myelin, with consequent demyelinization and neurodegeneration of the central and peripheral nervous system (NS). KD shares some similar features with other neuropathies and heterozygous carriers of GALC mutations are emerging with an increased risk in developing NS disorders. In this work, we set out to identify possible variations in the proteomic profile of KD-carrier brain to identify altered pathways that may imbalance its homeostasis and that may be associated with neurological disorders. The differential analysis performed on whole brains from 33-day-old twitcher (galc −/−), heterozygous (galc +/−), and wild-type mice highlighted the dysregulation of several multifunctional factors in both heterozygous and twitcher mice. Notably, the KD-carrier mouse, despite its normal phenotype, presents the deregulation of vimentin, receptor of activated protein C kinase 1 (RACK1), myelin basic protein (MBP), 2′,3′-cyclic-nucleotide 3′-phosphodiesterase (CNP), transitional endoplasmic reticulum ATPase (VCP), and N-myc downstream regulated gene 1 protein (NDRG1) as well as changes in the ubiquitinated-protein pattern. Our findings suggest the carrier may be affected by dysfunctions classically associated with neurodegeneration: (i) alteration of (mechano) signaling and intracellular trafficking, (ii) a generalized affection of proteostasis and lipid metabolism, with possible defects in myelin composition and turnover, and (iii) mitochondrion and energy supply dysfunctions. [ABSTRACT FROM AUTHOR]

Objective: To describe the disruptions in care experienced by persons with Multiple Sclerosis in Italy due to the COVID-19 pandemic and the self-reported impact on their health and wellbeing. Methods: A cross-sectional online survey was completed by 2722 persons with Multiple Sclerosis, after Italy instituted a national lockdown in response to the pandemic. Results: Persons with Multiple Sclerosis reported that the pandemic caused broad disruptions to usual health and social care services, which impacted on their health and wellbeing. Disruptions in care were consistently associated with negative self-reported impacts on the expected progression of the disease, on out-of-pocket expenditure and on carer's stress. Psychological consequences were associated with interruption to usual psychological support, and concerns about the safety of care delivered in person. Conclusions: The quality of life of persons with Multiple Sclerosis depends greatly on prompt access to a broad range of health and care services. Negative psychological impacts reported by persons with Multiple Sclerosis with less severe disabilities show that accessible integrated services are crucial for maintenance of their wellbeing. Most persons with Multiple Sclerosis with more severe disability experienced negative impacts on perceived health. Their carers compensating for lack of social input resulted in care overburden. As continuity of care is crucial for persons with Multiple Sclerosis, as well as for persons with chronic conditions in general, strategies must be in place to ensure it is included in future pandemic response plans. [ABSTRACT FROM AUTHOR]

Objectives: The association between post-traumatic stress disorder (PTSD) and medical comorbidities is controversial since most studies focused on specific comorbidity and victim types. In Italy, data on this issue are scarce. A comprehensive evaluation of all the ICD medical categories co-occurring in PTSD may orient assessment and treatment during clinical and forensic practice. This is the first study evaluating all the ICD physical comorbidities and gender-related differences in Italian PTSD patients. Eighty-four PTSD patients (36 females, 48 males) were included. The Clinician-Administered PTSD Scale, Mini International Neuropsychiatric Interview and Davidson Trauma Scale were administered. Results: Most patients had a PTSD consequent to an accident and half of them presented extreme symptom severity. No gender differences emerged on symptom severity/duration and age at the event. Metabolic (39.29%), circulatory (20.24%) and musculoskeletal systems/connective tissue diseases (17.86%) were the most frequent comorbidities. Metabolic/circulatory diseases were more frequent among males (p = 0.019 and p = 0.027, respectively) while females more frequently showed neoplasms (p = 0.039). Physical comorbidities represent a serious complication in PTSD patients and are more prevalent than in the Italian population. While gender is not associated with symptom presentation, it seems to play a key role in specific comorbidities including metabolic, circulatory and neoplastic diseases. [ABSTRACT FROM AUTHOR]

Highlights • Percutaneous transluminal angioplasty (PTA) had been under scrutiny as multiple sclerosis treatment. • We prospectively quantified eventual neurophysiological and urodynamic changes occurring post PTA. • Central neural conduction properties remained overall unchanged despite transient subjective well-being improvement. Abstract Objective Verify whether Percutaneous Transluminal Angioplasty (PTA) may affect neural conduction properties in Multiple Sclerosis (MS) patients, thereby modifying patients' disability, with prospective neurophysiological, urodynamic, clinical and subjective well-being evaluations. Methods In 55 out of 72 consecutively screened MS patients, the following procedures were carried out before (T0), at 2–6 months (T1) and at 6–15 months (T2) after a diagnostic phlebography, eventually followed by the PTA intervention if chronic cerebrospinal venous insufficiency (CCSVI) was diagnosed: clinical/objective evaluation (Expanded Disability Status Scale, EDSS), ratings of subjective well-being, evaluation of urodynamic functions and multimodal EPs (visual, acoustic, upper and lower limbs somatosensory and motor evoked potentials). Results The number of dropouts was relatively high, and a complete set of neurophysiological and clinical data remained available for 37 patients (19 for urological investigations). The subjective well-being score significantly increased at T1 and returned close to basal values at T2, but their degree of objective disability did not change. Nevertheless, global EP-scores (indexing the impairment in conductivity of central pathways in multiple functional domains) significantly increased from T0 (7.9 ± 6.0) to T1 (9.2 ± 6.3) and from T0 to T2 (9.8 ± 6.3), but not from T1 and T2 (p > 0.05). Neurogenic urological lower tract dysfunctions slightly increased throughout the study. Conclusions The PTA intervention did not induce significant changes in disability in the present cohort of MS patients, in line with recent evidence of clinical inefficacy of this procedure. Significance Absence of multimodal neurophysiological and functional testing changes in the first 15 months following PTA suggests that conduction properties of neural pathways are unaffected by PTA. Current findings suggest that the short-lived (2–6 months), post-PTA, beneficial effect on subjective well-being measures experienced by MS patients is likely related to a placebo effect. [ABSTRACT FROM AUTHOR]

The study estimates the cost of multiple sclerosis (MS) in Italy quantifying the impact of the rehabilitation on cost of illness. Patients with MS were enrolled at MS clinical centres, in rehabilitation units and among members with MS of the Italian MS Society across the Italy. The MS costs were captured with a questionnaire and were estimated taking into account both healthcare and non-healthcare costs as well as the productivity losses. Mean total annual costs per patients were €37,948, increasing for different disease severity: from €22,750 at an EDSS score of 0-3 to €63,047 at an EDSS score equal to or more than 7. €3,418 was due to rehabilitation (about 26.7 % of direct healthcare costs) and of these 44 % was attributable to admission to rehabilitation. The multivariate analysis showed a consistent trend toward increased total cost with progressive severity of MS, with presence of relapses, while the total cost decreases with a better quality of life. The burden increases as the MS becomes more severe and with relapse occurrence, moreover we observed high costs due to admission to rehabilitation suggesting that different rehabilitation setting might be considered to reduce the financial burden and increase the quality of life for person with MS. [ABSTRACT FROM AUTHOR]