Prevalenza della sclerosi multipla nell'isola d'Elba

Introduzione Le variazioni temporali e geografiche della frequenza di Sclerosi Multipla (SM) sono state molto studiate. Negli ultimi 30 anni, gli studi epidemiologici hanno evidenziato come la distribuzione della malattia nei paesi dell’area mediterranea, anche in Italia, sia più complessa di quanto ritenuto in passato quando era comunemente accettato il modello correlato alla latitudine (1, 2). Scarsi sono i dati di prevalenza relativi all’Italia centrale e in particolare ad oggi non sono noti dati pubblicati sulla dimensione di questa patologia nella popolazione dell’isola d’Elba. Obiettivi Calcolare la prevalenza della SM nell’isola d’Elba dal momento che non ci sono dati disponibili in letteratura. Metodi L'isola d'Elba è l’isola più grande dell'Arcipelago Toscano e la terza più grande d'Italia dopo la Sicilia e la Sardegna (223 km²). Al giorno di prevalenza, ovvero il 31/12/2010, la popolazione residente nell’isola era pari a 31.943 abitanti. I casi di SM sono stati identificati consultando le cartelle cliniche dell’ospedale e dell’ambulatorio di riferimento neurologico dell’isola. Sono stati arruolati nello studio tutti i pazienti con diagnosi di SM secondo i criteri di McDonald, residenti nell’isola al giorno di prevalenza. Sono stati calcolati i tassi di prevalenza grezzi e specifici (sesso e età) e il tasso standardizzato rispetto alla popolazione italiana del 2001. Gli intervalli di confidenza al 95% dei tassi di prevalenza sono stati calcolati assumendo una distribuzione di Poisson. Risultati Al giorno di prevalenza erano residenti nell’isola 42 soggetti con SM. Di questi il 59,5% era nato ed era tutt’ora residente nell’isola, mentre il 40,5% era nato fuori dall’isola. Tra i 42 soggetti con SM, 4 avevano origine sarda. Il rapporto F:M è risultato pari a 2,8: infatti il 73,8% era di sesso femminile rispetto al 26,2% di sesso maschile. L’età media dei soggetti era di 49,8±12,6 anni e non si osservano differenze significative tra i sessi riguardo all’età (M: 52,9±10,7, F: 48,7±12,6; p = 0,329). Per quanto riguarda le forme di malattia, il 16,7% dei pazienti aveva una forma CIS, il 61,9% una RR, il 16,7% una SP e il 4,8% una PP. Il grado di disabilità (EDSS) è risultato correlato (trend crescente) con la forma di malattia: EDSS pari a 1,5 per le forme CIS, 2,0 per le forme RR e 6,0 per le forme SP e PP. La durata di malattia, in media, era di 15,0±9,8 anni, con un range tra 0 e 37 anni. La durata media di malattia è risultata più alta per i maschi (19,3±9,5 anni) rispetto alle femmine (13,6±9,6 anni) ma tale differenza non è statisticamente rilevante (p = 0,109). Il tasso di prevalenza grezzo è risultato pari a 131,5 (IC 95%: 99,8-177,7) per 100.000 (maschi 70,7; femmine 189,2 per 100.000). Il tasso di prevalenza standardizzato è risultato pari a 131,5 (IC 95%: 91,8-171,2) per 100.000. Il tasso di prevalenza sesso età specifico mostra un picco, per entrambi i sessi, nella classe di età tra 45-54 anni, mentre non ci sono casi prima dei 15 anni

Prevalence of chronic comorbidities in people with multiple sclerosis: descriptive study based on administrative data in Tuscany (Central Italy)

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

Increasing prevalence of multiple sclerosis in Tuscany: a study based on validated administrative data

AIMS Italy is a high-risk area for Multiple Sclerosis (MS) with a prevalence of around 140/105 (2009) with the exception of Sardinia, with about 224 cases/105 (2009). Nowadays, in Italy, prevalence is absolutely higher than the above estimates. Indeed, prevalence is rising due to annual incidence that is higher than annual mortality. In Tuscany a population MS register has been founded but, to date, it’s not yet completed. To monitor disease epidemiology, comorbidities and care pathways, but also to describe the disease burden and to plan its prevention, treatment and management strategies and resource allocation, population-based studies are preferable. Administrative data offer a unique opportunity for population-based prevalence study of chronic diseases such as MS. Our aim is to update the prevalence of MS in Tuscany and to demonstrate its progressive increment. METHODS The prevalence was calculated using a case-finding algorithm based on administrative data: hospitalization, specific MS drug dispensing, disease-specific exemptions from patient copayment, home and residential long-term care and inhabitant registry. To test algorithm sensitivity, we used a true-positive reference cohort of 302 MS patients from the Tuscan MS register. To test algorithm specificity, we used a general population cohort of 2,644,094 individuals who were presumably not affected by MS (who had never effectuated either cranial or spinal cord CT scan or MRI and had never received a neurological outpatient visit within the NHS). We calculated prevalence on three consecutive years (2011, 2012, 2013). RESULTS At prevalence date (31 December), we identified 6,890 cases in 2011, 7,057 in 2012 and 7,330 in 2013 with a rate of 187.9, 191.1 and 195.4/105, respectively. The female:male ratio slightly increased from 2.0 in 2011 to 2.1 in 2012-2013. The sensitivity of algorithm was 98% and its specificity was 99.99%. DISCUSSION We found a progressive increment of prevalence that confirmed our hypothesis of increasing prevalence. Although our validity study demonstrated a high level of sensibility, we could miss some patients, especially individuals with a severe MS, who did not access the healthcare system and who did not use the DMDs included in our algorithm. CONCLUSIONS We confirmed that Tuscany is a high-risk area for MS and that the prevalence is increasing over time. Despite some limitations, we also demonstrated that our algorithm can accurately identify patients and this cohort is suitable to monitor care pathways. Our future aim is to create an integrated dataset with administrative and clinical data from MS register

Incidenza della sclerosi multipla in Toscana: uno studio basato su dati amministrativi

INTRODUZIONE L’Italia è un’area ad elevato rischio di sclerosi multipla (SM) con una prevalenza stimata di 110.000 casi e un’incidenza di 3.400 casi annui [1]. Gli ultimi dati pubblicati sulla prevalenza sono 149 casi su 100.000 a Genova nel 2007 [2], 140 casi a Padova nel 2009 [3] e 210 nella parte meridionale della Sardegna nel 2007 [4]. Per quanto riguarda l’incidenza, i dati più recenti sono 5,5 casi su 100.000 a Padova nel periodo 2000-09 [3], 6,6 a Genova nel 1998-2007 [2], e 9,7 in Sardegna nel 2003-07 [4]. Dallo scorso anno è stato attivato in Italia un registro nazionale di SM il quale rappresenterà, nel prossimo futuro, un valido strumento per lo studio dell’epidemiologia di questa malattia. Anche in Toscana è presente, dal 2006, un registro regionale della SM ma, al momento, non è rappresentativo dell’intera popolazione di pazienti. Una possibile alternativa per studiare l’epidemiologia è attraverso i dati amministrativi. Questi, infatti, coprono l’intera popolazione residente e vengono raccolti di routine in un modo standardizzato ai fini della gestione del servizio sanitario. In un precedente lavoro, abbiamo creato e validato un algoritmo di cattura dei casi prevalenti basato su fonti amministrative [5]. La prevalenza, calcolata al 2011, è risultata pari a 188 casi per 100.000 [5]. Anche altre Regioni hanno utilizzato i dati amministrativi per stimare la prevalenza della SM, come il Lazio con 131 casi su 100.000 nel 2011 [6], la Puglia con 183 casi nel 2012, il Veneto con 170-180 casi nel 2015, la Sicilia con 110 casi nel 2010 e la Sardegna con 360 casi nel 2016 [1]. OBIETTIVI Calcolare l’incidenza della SM in Toscana utilizzando dati amministrativi. METODI Per il calcolo dell’incidenza abbiamo creato il seguente algoritmo: ospedalizzazione in reparto per acuti e con diagnosi primaria di SM, esenzione attiva per SM, e prescrizione di farmaci specifici. I casi incidenti sono stati identificati come quei casi catturati dall’algoritmo non tracciati in precedenza nei flussi amministrativi, e la data della prima traccia è stata considerata quale data di diagnosi della SM. Da questa coorte di soggetti abbiamo selezionato i pazienti con un’età ≤ 55 anni, residenti in Toscana al momento della diagnosi e presenti in anagrafe da almeno 10 anni (o nati in Toscana se età <10). Abbiamo calcolato i tassi grezzi e standardizzati e gli intervalli di confidenza (IC) al 95% per gli anni 2011-2015. RISULTATI Abbiamo identificato, dal 2011 al 2015, 1.056 nuovi casi in Toscana con un’incidenza che varia da 5,04 nel 2011 a 6,02 casi su 100.000 nel 2015 (Tabella 1). Nelle donne l’incidenza è circa due volte più alta rispetto agli uomini con un range che va da 6,48 nel 2011 a 7,96 su 100.000 nel 2015 nelle donne, e da 3,49 nel 2011 a 3,93 nel 2015 negli uomini (Tabella 2). Prendendo in considerazione l’ultimo anno di analisi (2015), abbiamo inoltre osservato delle differenze per ASL di residenza al momento della diagnosi, con aree in cui il tasso di incidenza è inferiore alla media regionale, come Grosseto (4,58), Pisa (4,33 casi/100.000), Siena (3,30), Lucca (3,07) e Viareggio (3,06), e aree in cui l’incidenza è più elevata rispetto alla media, come Empoli (7,99), Livorno (8,80) e Arezzo (9,78)

Neurodegenerative Disorder Risk in Krabbe Disease Carriers

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

prospective study of clinical neurophysiological and urodynamic findings in multiple sclerosis patients undergoing percutaneous transluminal venous angioplasty

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

Patients with multiple sclerosis: a burden and cost of illness study

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 euro39,307/patient (euro29,676, euro43,464 and euro53,454 in mild, moderate and severe cases, respectively). Direct healthcare costs were the major component (euro21,069), followed by indirect costs (euro15,004). The overall cost of the disease in Italy was euro4.8 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

automatic vending machines contamination a pilot study

Hot-drinks vending machines are disseminated worldwide and millions of drinks are served every day. Because of a small number of studies on hot-drinks related illnesses, the aim of this pilot study was to identify the presence and load of bacterial species, potentially harmful for consumers, within hot-drinks vending machines external critical surfaces. This preliminary cross sectional study was carried out in April 2015 at the University of Siena, Italy. Samples were taken from the critical surfaces of 4 hot-drinks vending machines (VM); the analyzed VM's critical surfaces were: Dispense Areas, Nozzles and Glass-Holders. The samples were sown on selective culture media: Plate Count Agar (PCA) at 22°C and 36°C, Slanetz and Bartely Agar (SBA) and Mannitol Salt Agar (MSA). Total Viable Count (TVC) at 36°C and 22°C was assessed for mesophilic and psychrophilic contamination. Results were expressed in terms of average CFU/cm2. Descriptive and statistical analyses were performed in order to assess which surface was the most contaminated. The nozzles resulted to be the most contaminated critical surface, showing average values over the limits in all the culture media (PCA 36°C, PCA 22°C, MSA and SBA). The statistical analysis showed that the nozzles were significantly more contaminated (p &lt;0.05) than Dispense Areas and Glass-holders both in PCA 36°C and in PCA 22°C. Given the high number of CFU/cm2, VM may constitute a potential threat for consumer's health, reason for which further studies are recommendable.</p

Frequency and type of domestic injuries among children during COVID-19 lockdown: what changes from the past? An Italian multicentre cohort study

: 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&nbsp;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 &lt; 0.001) (IRR: 3.16; p &lt; 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 &lt; 0.001), males (OR: 1.4; p &lt; 0.001), and it increased with age (OR: 1.1; p &lt; 0.001).&nbsp; &nbsp; 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&nbsp;it increased with advancing age. Considering the type of injury, a significant higher risk of hospitalization for poisoning was observed

Antibody response elicited by the SARS-CoV-2 vaccine booster in patients with multiple sclerosis: Who gains from it?

Background and purpose: Although two doses of COVID-19 vaccine elicited a protective humoral response in most persons with multiple sclerosis (pwMS), a significant group of them treated with immunosuppressive disease-modifying therapies (DMTs) showed less efficient responses.Methods: This prospective multicenter observational study evaluates differences in immune response after a third vaccine dose in pwMS.Results: Four hundred seventy-three pwMS were analyzed. Compared to untreated patients, there was a 50-fold decrease (95% confidence interval [CI]=14.3-100.0, p &lt; 0.001) in serum SARS-CoV-2 antibody levels in those on rituximab, a 20-fold decrease (95% CI=8.3-50.0, p &lt; 0.001) in those on ocrelizumab, and a 2.3-fold decrease (95% CI = 1.2-4.6, p = 0.015) in those on fingolimod. As compared to the antibody levels after the second vaccine dose, patients on the anti-CD20 drugs rituximab and ocrelizumab showed a 2.3-fold lower gain (95% CI = 1.4-3.8, p=0.001), whereas those on fingolimod showed a 1.7-fold higher gain (95% CI = 1.1-2.7, p = 0.012), compared to patients treated with other DMTs.Conclusions: All pwMS increased their serum SARS-CoV-2 antibody levels after the third vaccine dose. The mean antibody values of patients treated with ocrelizumab/rituximab remained well below the empirical "protective threshold" for risk of infection identified in the CovaXiMS study (&gt;659 binding antibody units/mL), whereas for patients treated with fingolimod this value was significantly closer to the cutoff