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Background - In the last few years care for children with severe chronic conditions is a topic of increasing interest. Children with chronic illness often require a high complexity of care and a high level of coordination among health services. Objective - The primary aim of this study is the assessment of children with chronic disease and high complexity of care (children with medical complexity), discharged from the Neonatal Intensive Care Unit (NICU) of Modena University-Hospital. The secondary aim is to assess the outcome of these patients. Methods - Patients with chronic diseases and high complexity of care (children with medical complexity), aged 0-6 months, and admitted to the NICU of Modena in the years 2009-2019 were recruited. Results - 59 subjects were included, of which 15 (25.4%) were born preterm, 11 (18.6%) suffered from hypoxic-ischemic encephalopathy, 33 (56%) had genetic diseases or malformations. All patients were discharged home, except for one patient who was discharged to hospice. The average hospital length of stay was 116.0 ± 63.4 days. Follow-up visits showed that 25 cases (42.4%) remained unchanged, 18 (30.5%) improved and 16 (27.1%) died. Conclusion - This study allows an assessment of patients with early diagnosis of chronic disease with high complexity of care, showing that some of these patients could be eligible for palliative care. The management of children with medical complexity requires diagnostic-therapeutic programmes that focus on them and their families and connect hospital and territorial health services.

Background: The study analysed risk factors for bacterial and fungal co-infection in patients with COVID-19 and the impact on mortality.Methods: This is a single-center retrospective study conducted on 387 patients with confirmed COVID-19 pneumonia admitted to an Italian Tertiary-care hospital, between 21 February 2020 and 31 May 2020. Bacterial/fungal coinfection was determined by the presence of characteristic clinical features and positive culture results. Multivariable logistic regression was used to analyze risk factors for the development of bacterial/fungal co-infection after adjusting for demographic characteristics and comorbidities. Thirty-day survival of the patients with or without co-infections was analysed by Kaplan-Meier method.Results: In 53/387 (13.7%) patients with COVID-19 pneumonia, 67 episodes of bacterial/fungal co-infection occurred (14 presented >1 episode). Pneumonia was the most frequent co-infection (47.7%), followed by BSI (34.3%) and UTI (11.9%). S. aureus was responsible for 24 episodes (35.8%), E. coli for 7 (10.4%), P. aerugionsa and Enterococcus spp. for 5 episodes each (7.4%). Five (7.4%) pulmonary aspergillosis, 3 (4.4%) pneumocystosis and 5 (7.4%) invasive candidiases were observed. Multivariable analysis showed a higher risk of infection in patients with an age>65 years (csHR 2.680; 95%CI: 1.254 - 5.727; p=0.054), with cancer (csHR 5.243; 95%CI: 1.173-23.423; p=0.030), with a LOS>10 days (csHR 12.507; 95%CI: 2.659 – 58.830; p=0.001), early (within 48h) admitted in ICU (csHR 11.766; 95% CI: 4.353-31.804; p5 (csHR 3.397; 95% CI: 1.091 - 10.581; p=0.035). Estimated cumulative risk of developing at least 1 bacterial/fungal co-infection episode was of 15% and 27% after 15 and 30 days from admission, respectively. Kaplan-Meier estimated a higher cumulative probability of death in patients with bacterial/fungal co-infection (log-rank=0.031). Thirty-day mortality rate of patients with pneumonia was 38.7%, higher than those with BSI (30.4%).Conclusions: Bacterial and fungal infections are a serious complication affecting the survival of patients with COVID-19-related pneumonia. Some issues need to be investigated, such as the best empirical antibiotic therapy and the need for possible antifungal prophylaxis.

BackgroundPatients with autoimmune systemic diseases (ASDs) can be counted among frail populations as regards the predisposition to COVID-19 due to the frequent visceral organ involvement and comorbidities, as well as the ongoing immunomodulating treatments.ObjectivesOur long-term multicenter telephone survey prospectively investigated the prevalence, prognostic factors, and outcomes of COVID-19 in Italian ASD patients during the first 3 pandemic waves.MethodsA large series of 3,918 ASD patients (815 M, 3103 F; mean age 59±12SD years) was consecutively recruited at the 36 referral centers of COVID-19 & ASD Italian Study Group. In particular, ASD series encompassed the following conditions: rheumatoid arthritis (n: 981), psoriatic arthritis (n: 471), ankylosing spondylitis (n: 159), systemic sclerosis (n: 1,738), systemic lupus (172), systemic vasculitis (n: 219), and a miscellany of other ASDs (n: 178). The development of COVID-19 was recorded by means of telephone survey using standardized symptom-assessment questionnaire (1).ResultsA significantly increased prevalence of COVID-19 (8.37% vs 6.49%; pInterestingly, a significantly higher COVID-19-related death rate was observed in systemic sclerosis patients compared to the Italian general population (6.29% vs 2.95%; p=0.018). Other adverse prognostic factors to develop COVID-19 were the patients’ older age, male gender, pre-existing ASD-related interstitial lung involvement, and chronic steroid treatment. Conversely, patients treated with conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) showed a significantly lower prevalence of COVID-19 compared to those without (3.58% vs 46.99%; p=0.000), as well as the chronic administration of low dose aspirin in a subgroup of SSc patients (with 5.57% vs without 27.84%; p=0.000).ConclusionThe cumulative impact of COVID-19 on ASD patients after the first 3 pandemic waves revealed less severe than that observed during the first phase of pandemic (1), especially with regards to the death rate that was comparable to the Italian general population in spite of the increased prevalence of complicating COVID-19 in the same ASD series.Ongoing long-term treatments, mainly csDMARDs, might usefully contribute to generally positive outcomes of in this frail patients’ population.Of note, a significantly increased COVID-19-related mortality was recorded in only SSc patients’ subgroup, possibly favored by pre-existing lung fibrosis. Among different ASD, SSc deserves special attention, since it shares the main pathological alterations with COVID-19, namely the interstitial lung involvement and the endothelial injury responsible for diffuse microangiopathy.Besides SSc, the patients’ subgroups characterized by older age, chronic steroid treatment, pre-existing interstitial lung disease, and/or impaired COVID-19 vaccine response (1-3), may deserve well-designed prevention and management strategies.References[1]Ferri C, et al. Ann Rheum Dis. 2020 Oct 14 doi: 10.1136/annrheumdis-2020-219113.[2]Ferri C et al. J Autoimmun. 2021 Dec;125:102744. doi: 10.1016/j.jaut.2021.102744.[3]Visentini M et al. Ann Rheum Dis. 2021 Nov 24. doi: 10.1136/annrheumdis-2021-221248Disclosure of InterestsNone declared

BackgroundPatient Reported Outcomes (PROs) are central to measure how patients feel and function especially when determining the effect of disease modifying agents. In patients with Systemic Sclerosis associated Interstitial Lung Disease (SSc-ILD), dyspnea is the main driver of HAQ decline but the effect of reduced lung function on both generic and specific measures of functional impairment is not well defined, and there are many potential confounding biases that could distort the apparent extent and direction of this relationship. Moreover, collider biases potentially induced by selection into the cohort and in clinical trials can also play a role.ObjectivesTo define within the EUSTAR database, the correlation of Forced Vital Capacity (FVC) and functional impairment PROs and identify potential confounders to be considered in casual inference studies.MethodsA cross-sectional analysis included for each patient with SSc-ILD (by X-ray and/or HRCT) in the EUSTAR registry the last visit with at least one PRO (Health Assessment Questionnaire Disability Index [HAQ-DI], Cochin hand function scale [CHFS] and/or dyspnoea visual analogue scale [VAS]) and % predicted FVC (%pFVC), if available. Patients with LVEF≤50% or pulmonary arterial hypertension at RHC were excluded. SSc-ILD with restricted lung volume was defined as %pFVC≤70 [1]. Spearman’s correlation analysis was performed. Results of this analysis and literature review were integrated to design a directed acyclic graph (DAG) and identify the appropriate confounder adjustment set for the total causal effect of FVC on functional impairment PROs.ResultsAmong 17.338 SSc patients in the EUSTAR registry (extracted in November 2019), 727 SSc-ILD patients fulfilled the inclusion criteria (median %pFVC 90 (IQR 74-104), median %pDLCO 60 (IQR 47-52)). Patients with %pFVCTable 1.Results are reported as number/number available (%) for dichotomic variables, or as median (IQR) (n available) for continuous variables.%pFVC≥70 (n=578)%pFVC)Age at disease onset (years)60.6 (52.3-69.3) (546)52.5 (45.6-63-7) (137)Disease duration (months)134.4 (77.5-212.2) (546)110.3 (66.3-199.7) (137)Male sex84/578 (14.5)32/149 (21.5)Anti-Scl70+231/468 (40.7)81/122 (66.4)Smoker ever52/389 (13.4)17/107 (15.9)Caucasian ethnicity545/569 (95.8)131/145 (90.3)dcSSc167/559 (29.9)74/147 (50.3)Oesophageal symptoms319/571 (55.9)93/147 (63.3)Muscle weakness78/565 (13.8)37/149 (24.8)CRP elevation141/540 (26.1)53/134 (39.6)Elevated sPAP (ECHO)45/456 (9.9)21/121 (17.2)Pericardial effusion2/448 (0.4)4/110 (3.6)Diastolic function abnormality151/431 (35.0)31/102 (30.4)Conduction blocks78/480 (16.3)35/120 (29.2)%pDLCO62 (52-74) (527)42 (35-53) (118)CHFS7 (1-23) (493)16 (2-34.8) (114)HAQ-DI0.63 (0.13-1.13) (578)1.25 (0.38-2) (139)VAS dyspnoea (0-100)15 (10-45) (391)40 (20-70) (109)NYHA stage 3/447/561 (8.4)37/143 (25.9)Subsequently, we created a DAG showing the proposed causal pathway considered relevant to the relationship between FVC and HAQ (Figure 1).ConclusionLung function as measured by FVC appears to correlate with worse patient-reported function in our unadjusted analysis of the large multicentre EUSTAR dataset. However, to estimate the total causal effect we must consider a multitude of potentially confounding factors, which need to be integrated and analysed in a causal inference framework. The proposed DAG will inform the development of simulations of the potential impact of bias (confounding, collider and omitted variable) on effect estimates we could obtain from EUSTAR cohort.References[1]Goh NS, et al. Am J Respir Crit Care Med, 2008.Disclosure of InterestsMaria Grazia Lazzaroni Grant/research support from: Research grant from Boehringer-Ingelheim, Michelle Wilson Grant/research support from: Research grant from Boehringer-Ingelheim, Elizabeth Hensor: None declared, Jörg H.W. Distler: None declared, Giovanna Cuomo: None declared, Elise Siegert: None declared, Ulf Müller-Ladner: None declared, Yannick Allanore: None declared, Maria Joao Salvador: None declared, Branimir Anic: None declared, Ulrich Walker: None declared, László Czirják: None declared, Camillo Ribi: None declared, Cristina-Mihaela Tanaseanu: None declared, Armando Gabrielli: None declared, Anna-Maria Hoffmann-Vold: None declared, Oliver Distler: None declared, Francesco Del Galdo: None declared

BackgroundSevere acute respiratory syndrome coronavirus 2 (SARSCoV-2), also called COVID-19 disease, was firstly reported in December 2019 in China and soon declared a pandemic by the World Health Organization (WHO) on March 11, 2020 (1). As a result, patients’ visits to medical facilities are affected. Systemic sclerosis (SSc) is a chronic systemic autoimmune disease characterized by vascular damage, autoimmunity, and fibrosis. In these patients, a tight follow-up is crucial to verify the specific cases and clinical needs. In particular, the infection risk in SSc might also be related not only to disease activity but also to possible flares due to therapy discontinuation. Telemedicine has demonstrated as a valid alternative to improve the quality of rheumatic patients’ care during COVID-19 pandemic, thus reducing hospitalizations only to urgent admissions (2)ObjectivesIn december 2020 the Azienda Policlincio Vanvitelli approved telemedicine by IRPLUS platform as a particular measure in the face of the COVID-19 pandemic. In this study we examined the impact of the COVID-19 pandemic on visit status of SSc patients at our centre and the patient benefits of telemedicineMethodsIn this study, we retrospectively enrolled 480 SSc patients who visited in our centre between January and December 2021. Of the patients included in the study, 198 patients (18 males and 180 females) used telemedicine, while 282 patients (20 males and 262 females) did not use itResultsDuring televisites, we assessed possible contacts with COVID-19 patients and/or potential risk of COVID-19, investigating about the occurrence of typical symptoms in the last 15 days. No significant differences in background data, such as the severity of the disease, type of treatment and frequency of complications were found between these two groups. In more detail, SSc is associated interstitial lung disease was complicated by 35.4% and 31.3% of patients in the telemedicine and non-telemedicine groups, respectively (p=0.9). Besides, 53.7% of patients in the telemedicine group and 49.9% of patients in the non-telemedicine group were treated with prednisone (p=0.344). 74.1% of patients in the telemedicine group were administered immunosuppressive drugs, compared to 78.5% of patients in the non-telemedicine group (p=1.000). The number of patients who discontinued treatment was significantly lower in the telemedicine group, with 14 patients (7%) compared to 30 patients (11.4%) in the non-telemedicine group (p=0.003). These patients who voluntarily discontinued treatment were finally resumed. However, the time required to resume treatment differed between the two groups. This means that the duration of treatment interruption was significantly shorter in the telemedicine group, with a mean (± standard deviation) of 1.85 (5.5) days compared to 7.5 (12.1) days in the non-telemedicine group (p=0.001). There was no difference in the amount of change in laboratory data between the groups receiving telemedicine and those not receiving telemedicine.ConclusionThis study confirmed the data published by Norimatsu et al (3), as that telemedicine may help SSc patients to continue and/or resume treatment under the COVID-19 pandemic.SSc is associated to interstitial lung disease, cardiac involvement, vascular injury and prednisone and immunosuppressive agents have been used as treatment.Thus, disruptions in treatment can lead to worsening of symptoms and missed opportunities for early interventions for complications. Patients who use telemedicine may be more motivated to treat, and this retrospective study demonstered it. This study suggests that telemedicine can be useful in treating SSc and other diseases that require ongoing treatment in the COVID-19 infection.References[1]ZHU N, N Engl J Med 2020[2]CONTRERAS CM, et al. Telemedicine. J Gastrointest Surg 2020[3]Y. Norimatsu et al, Clinical and Experimental Rheumatology 2021Disclosure of InterestsNone declared

BackgroundSystemic sclerosis (SSc) is a chronic disease characterized by autoimmunity, vasculopathy, and visceral and cutaneous fibrosis and very-early systemic sclerosis VEDOSS is characterized by Raynaud’s phenomenon with SSc marker autoantibodies and typical capillaroscopic finding. Vitamin D has several functions in the immunological system, and different studies have suggested a potential role in triggering autoimmune diseases. (1,2)ObjectivesOur goal was to verify the difference of Vitamin D levels causal in SSC definite and VEDOSS population, and relationship between hypovitaminosis D and SSc characteristicsMethods42 adults with SSc were recruited: 24 with American College of Rheumatology criteria were affected by diffuse systemic sclerosis (4) and limited systemic sclerosis (20); 18with VEDOSS criteria.Patients were evaluated from medical history and physical examination (modified Rodnan skin score and the presence / number of ulcers), biohumoral evaluation of routine, electrocardiogram, echocardiogram, pulmonary function tests, high resolution computed tomography of the chest, capillaroscopy. For the determination of total vitamin D levels (25-OH), the serum samples were suitably centrifuged at 4 ° C at 3500g. Vitamin D levels were then determined by a two-step chemiluminescence enzyme immunoassay (CLIA), with a maximum limit of 100 ng / ml.ResultsThe 42 subjects recruited (4 men and 38 women); age 48.2 ± 11.5 years (mean ± SD). All subjects were ANA positive, with anti-Scl70 positivity in dcSSc patients (4) and anti-centromere lcSSc patients (18). Patients with VEDOSS showed optimal serum levels of vitamin D (33.93 ± 3.5 ng / ml). Conversely, patients with systemic sclerosis showed serum levels of vitamin D at the limit of sufficiency (21.75 ± 4.0 ng / ml). (Figure 1) In particular, in the group of patients with systemic sclerosis, vitamin D levels were significantly reduced by 1.5 times (P ConclusionConsidering our findings from this work, it is possible to consider the Vitamin D supplement in patients suffering from sclerosis, especially as an adjuvant in the initial phase of the disease, thus hypothesizing a slowdown in the progression of the disease and an improvement in prognosis.References[1]S. Bellando-Randone, F.Del Galdo, G. Lepri, t al. Progression of patients with Raynaud’s phenomenon to systemic sclerosis: a five-year analysis of the European Scleroderma Trial and Research group multicentre, longitudinal registry study for Very Early Diagnosis of Systemic Sclerosis (VEDOSS). Lancet Rheumatol 2021; 3: e834–43[2]Rosen Y, Daich J, Soliman I, Brathwaite E, Shoenfeld Y. Vitamin D and autoimmunity. .Scand J Rheumatol. 2016 Nov;45(6):439-447.Figure 1.Disclosure of InterestsNone declared

BackgroundNintedanib (NTD) has been approved for Systemic Sclerosis (SSc)-Interstitial Lung Disease (ILD) following the positive results of the SENSCIS trial.Objectivesto describe the efficacy and safety of NTD in SSc-ILD in a real-life setting.MethodsThe clinical data of SSc-ILD patients treated with NTD from 10 Italian SSc centres were retrospectively evaluated at baseline, 6 and 12 months: SSc clinical features, NTD tolerability, pulmonary function tests (PFTs) and modified Rodnan skin score (mRSS) were recorded.Results69 SSc-ILD patients (22 males [32%], mean age 60±12 years, disease onset 50±13 years, 4 [6%] anti-centromere, 53 [77%] anti-topoisomerase I, 3 [4%] anti-RNA-polimerase III) were identified. The vast majority (84%) was previously treated with immunosuppressants: 27 (39%) cyclophosphamide, 45 (65%) mycophenolate mofetil, 6 (9%) methotrexate, 9 (13%) azathioprine, 6 (9%) tocilizumab and 22 (32%) rituximab. In 11 (16%) patients, NTD was the first treatment for SSc-ILD. At baseline, 57 patients (83%) were on corticosteroids (mean daily prednisone dose 6±5 mg), 58 (84%) on immunosuppressants, 47 (68%) on mycophenolate mofetil, 14 (20%) on rituximab, 3 (4%) on tocilizumab, 2 on methotrexate (3%) and 1 (1%) on azathioprine. At baseline HRCT showed UIP pattern in 27 (39%) and NSIP pattern in 42 (61%) patients. The modifications of PFTs and mRSS over time are shown in Table 1. Since NTD introduction, gastro-intestinal (GI) side effects were recorded in 34 (49%) patients, with diarrhoea being the most common complaint (35%), followed by nausea/vomiting (23%) and weight loss (16%). In 21 (30%) patients, after a mean time of 2.6±3.4 months, NTD was maintained after dose adjustment. In 5 (7%) patients NTD was stopped after a median time of 5 (1-6) months due to subocclusion and persistent diarrhoea in 3 patients, untreatable nausea and vomiting in one patient and liver toxicity in 1 patient. During the follow-up after a median time of 10 (6 – 33) months, 4 patients died.Table 1.Pulmonary function tests and mRSS at baseline, 6 and 12 months in SSc-ILD on NTD.Baseline6 monthsP valueBaseline12 monthsP valueFVC (% predicted)64 ± 1865 ± 18 (33 pts)0.63870 ± 1969 ± 18 (20 pts)0.586TLC (% predicted)64 ± 1561 ± 14 (27 pts)0.15464 ± 1465 ± 18 (16 pts)0.944DLCO (% predicted)40 ± 1741 ± 18 (29 pts)0.66040 ± 1838 ± 18 (20 pts)0.304mRSS9 ± 68 ± 6 (26 pts)0.0027 ± 48 ± 6 (15 pts)0.334pts= patientsConclusionOur preliminary data confirm that in a real-life clinical scenario NTD, in combination with immunosuppressants, may stabilize PFT. However, despite the fact that GI side effects are frequent, they may be controlled with NTD dose adjustment thus retaining the drug in SSc-ILD patients. The NTD efficacy on skin involvement needs to be thoroughly evaluated on a larger SSc population.Disclosure of InterestsCorrado Campochiaro Speakers bureau: Boeboehringer ingelheim, Giacomo De Luca Speakers bureau: boehringer ingelheim, Maria Grazia Lazzaroni Grant/research support from: boehringer ingelheim, Giuseppe Armentaro: None declared, Amelia Spinella: None declared, Barbara Vigone: None declared, Barbara Ruaro: None declared, Anna Stanziola: None declared, Devis Benfaremo: None declared, Enrico De Lorenzis: None declared, Francesco Benvenuti: None declared, Silvia Laura Bosello Speakers bureau: boehringer ingelheim, Gianluca Moroncini: None declared, Giovanna Cuomo: None declared, Marco Confalonieri: None declared, Lorenzo Beretta: None declared, Elisabetta Zanatta: None declared, Dilia Giuggioli: None declared, Nicoletta Del Papa: None declared, Paolo Airò: None declared, Lorenzo Dagna: None declared, Marco Matucci-Cerinic Speakers bureau: boehringer ingelheim

Background Machine learning can assist clinicians in forecasting patients with COVID-19 who develop respiratory failure requiring mechanical ventilation. This analysis aimed to determine a 48 hours prediction of moderate to severe respiratory failure, as assessed with PaO2/FiO2 < 150 mmHg, in hospitalized patients with COVID-19 pneumonia. Methods This was an observational study that comprised all consecutive adult patients with COVID-19 pneumonia admitted to the Infectious Diseases Clinic of the University Hospital of Modena, Italy from 21 February to 6 April 2020. COVID-19 was confirmed with PCR positive nasopharyngeal swabs while the presence of pneumonia was radiologically confirmed. Patients received standard of care according to national guidelines for clinical management of SARS-CoV-2 infection. The patients' full medical history, demographic and epidemiological features, clinical data, complete blood count, coagulation, inflammatory and biochemical markers were routinely collected and aggregated in a clinically-oriented logical framework in order to build different datasets. The dataset was used to train a learning framework relying on Microsoft LightGBM and leveraging a hybrid approach, where clinical expertise is applied alongside a data-driven analysis. Shapley Additive exPlanations (SHAP) values were used to quantify the positive or negative impact of each variable included in the model on the predicted outcome. The study outcome was the onset of moderate to severe respiratory failure defined as PaO2/FiO2 ratio < 150 mmHg ([≥] 13.3 kPa) in at least one of two consecutive arterial blood gas analyses in the following 48 hours. Results A total of 198 patients contributed to generate 1068 valuable observations which allowed to build 3 prediction models based respectively on 31-variables signs and symptoms, 39-variables laboratory biomarkers and 91-variables as a composition of the two. A fourth boosted mixed model which included 20 variables was selected from the model 3, achieved the best predictive performance (AUC=0.84). Its clinical performance was applied in a narrative case report as an example. Conclusion This study developed a machine learning algorithm, with a 84% prediction accuracy, which is potentially able to assist clinicians in decision making process with therapeutic implications.

Background The metabolic syndrome is an independent risk factor for ischaemic heart disease. Patients with systemic lupus eriythematosus have un increased prevalence of the metabolic syndrome.1 There are no controlled studies of the metabolic syndrome in patients with SSc. Objectives To compare the prevalence of the metabolic syndrome in patients with SSc and controls and to evaluate its relationship to activity and severity of disease. Methods Methods: 50 consecutive patients with SSc (45 female, median age 48; range 20–72) and 50 controls (patients whit fibromyalgia) (45 female, median age 46; range 25–72) were studied. The prevalence of the metabolic syndrome was compared in patients and controls using the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATPIII): central obesity: waist. 102 cm in men and. 88 cm in women;2 hypertriglyceridaemia:>150 mg/dl;3 low HDL, 40 mg/dl in men and, 50 mg/dl in women;4 high blood pressure:>130/85 mm Hg or use of drugs for high blood pressure; and5 high fasting glucose >110 mg/dl, and associations with activity and severity of the disease were examined. Results The metabolic syndrome was present in 24% of patients and in 30% of controls subjects (p>0.05). Among patients with SSc, the metabolic syndrome was significantly associated with higher value of ESR (ESR >30) (5/7 vs 4/34;p=0.027). Neither disease activity nor severity scores were associated with the metabolic syndrome Conclusions Patients with SSc have a lower prevalence of the NCEP-ATPIII-defined metabolic syndrome than controls. This result may help to justify the coronary prevalence in SSc patients similar to that of the general population.2–3 References [1] Bengtsson AA, et al. PLoS One2016Jul;21;11(7). [2] Hattema ME, et al. Rheumatology2008;45:578–83. [3] Akram MR, et al. Rheumatology2006;45:1395–8. Disclosure of Interest None declared

Objectives The aim of the present study was to evaluate the body composition by bioelectrical impedance analysis (BIA) and to assess the nutritional status by BMI and possible correlations with epidemiological and clinical characteristics in patients with SSc Methods Malnutrition was defined as BMI 10% in combination with a fat-free mass index (FFMI) 70 years). Body composition was assessed in 40 patients (female) (age mean ±sd: 45.2±12.2) and 20 healthy controls (age mean ±sd 41.5±5.3) with BIA (Akern, Italy) and BMI. The manufacturer’s equation and the Geneva equation were used to estimate fat mass (FFM). In addition, correlations with disease activity, gastrointestinal severity, disease subset, autoantibody profile, skin score were evaluated. Results Malnutrition was found in 10% of patients vs 8% of healty controls; and low FFMI in 30% of patients vs 10 5 of HC. Bioimpedentiometry showed a Fat Free Mass (FFM) (metabolically active component of fat free mass) reduced in patients compared to controls (46.8±7.6 vs 53.6±6.3 respectively; p=0.01). Furthermore, with the same instrument a lower basal metabolic rate was found in patients compared to controls: 1462±145 vs 1720±169 calories (p=0.001). The correlations between FFM and basal metabolism with the clinical features of the patients were not statistically significant Conclusions This study confrim the study of Spanjer MJ et al1 and shows a relatively low prevalence of malnutrition in comparison with other studies, but a high prevalence of low FFMI, underlining the necessity of measuring body composition in SSc patients with a standardised and validated method. Furthermore, Caporali et al,2 have shown an alteration of the nutritional status of patients of SSc probably related to a gastro-intestinal commitment. In our patients despite the presence of an apparent good nutritional status the use of bioimpedanceometry revealed a different body composition, a lower share of muscle mass, in patients compared to controls, related, in part, to musculoskeletal involvement by systemic sclerosis (increase in muscle catabolism and/or poor nutrient supply due to malabsorption phenomena). The early detection of such alterations could be useful to insert subjects at risk in physical rehabilitation programs. References [1] Spanjer MJet al, Rheumatology2017 [2] Caporaliet al; Clin Nutr2012 Disclosure of Interest None declared

Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We confirmed that 8 miRNAs out of 12 were significantly deregulated in DM1 patients: miR-1, miR-27b, miR-133a, miR-133b, miR-206, miR-140-3p, miR-454 and miR-574. The levels of these miRNAs, alone or in combination, discriminated DM1 from controls significantly, and correlated with both skeletal muscle strength and creatine kinase values. Interestingly, miR-133b levels were significantly higher in DM1 female patients. Finally, the identified miRNAs were also deregulated in the plasma of a small group (n = 30) of DM2 patients. In conclusion, this study proposes that miRNAs might be useful as DM1 humoral biomarkers.

OBJECTIVES: GO-MORE Trial investigated the use of Golimumab (GLM) in 3280 rheumatoid arthritis (RA) patients worldwide. At present, the burden of arthritis is greater in poorer countries than in developed countries due to socioeconomic disparities, thus suggesting the usefulness of subgroup investigations. We aimed to evaluate GLM as add-on therapy for RA patients in the Italian cohort of GO-MORE trial and compared the clinical characteristics between Italian patients and the enrolled patients worldwide. METHODS: Ninety-eight Italian patients with active RA, fulfilling the 1987 ACR criteria were enrolled. Statistical analyses were performed to assess: i. the differences in baseline characteristics; ii. the efficacy after 6 months; between Italian and Rest of the World GO-MORE populations. RESULTS: Compared to the worldwide population, Italian patients showed a lower value of disease activity and a significantly short disease duration. Unlike the worldwide patients, the large majority of Italian patients received biologic therapy after the failure of the first synthetic DMARD and were not treated by high methotrexate dosage. After 6 months of GLM treatment, no differences were observed in the therapeutic response. Italian patients reported a positive autoinjection experience mirroring the worldwide results. CONCLUSIONS: The analysis of the Italian GO-MORE subset confirms that differences among patients may be shown, depending on different approaches in different health systems. GLM in the Italian patients showed a favourable benefit/risk profile and the positive autoinjection experience may help with patient's compliance and survival of the treatment.

Understanding early preterm infants’ strengths, vulnerabilities, thresholds to stress and disorganization, and behavioural state regulation is of great importance in view of the daily care in the NICU and stabilization of preterm infants. Preterm infants display observable behaviours along three main systems: the autonomic, the motor and the state systems. These behaviours according to the NIDCAP method are coded and recorded on a score sheet based on naturalistic observation, performed with unaided eyes.

Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We confirmed that 8 miRNAs out of 12 were significantly deregulated in DM1 patients: miR-1, miR-27b, miR-133a, miR-133b, miR-206, miR-140-3p, miR-454 and miR-574. The levels of these miRNAs, alone or in combination, discriminated DM1 from controls significantly, and correlated with both skeletal muscle strength and creatine kinase values. Interestingly, miR-133b levels were significantly higher in DM1 female patients. Finally, the identified miRNAs were also deregulated in the plasma of a small group (n = 30) of DM2 patients. In conclusion, this study proposes that miRNAs might be useful as DM1 humoral biomarkers.

The aim of the current study was to evaluate stress levels during routine activities and during a major political event by members of the VI Reparto Mobile, an Italian specialized police unit exclusively deployed for riot and crowd control, which had undergone serious stress and liability consequences after the 2001 G8-Summit in Genoa. The investigation protocol consisted of a psychological assessment at the beginning of the study, evaluation of task-related stress with the Job Content Questionnaire (JCQ) and the Effort-Reward Imbalance questionnaire (ERI) at two time periods, and evaluation of behavioral and clinical outcomes as measured by short-term sickness absences (STSA) throughout the duration of the study. The sample consisted of 290 policemen, representing a 98.6 % participation rate. Results found that unit officers were more emotionally stable, conscientious and open to experiences than the general male population and career soldiers. JCQ and ERI decreased significantly when compared with daily and special event activities (p

Cerebral aneurysms are occasionally associated with anomalies of the cerebral arteries. Most reports on anomalies of the anterior cerebral artery have been concerned with hypoplasia, fenestration and the infra-optic course of the A1, variant A1 perforators or Heubner's artery, multi-channeled anterior communicating artery, and azygos anterior cerebral artery. Distal anterior cerebral artery (ACA) aneurysms are known to have a poor clinical course and prognosis compared to other supratentorial aneurysms. The presence of the unpaired, distal, postcommunicating (A2) segment of the ACA is very rare in adults. We describe a patient with a ruptured aneurysm arising from the proximal end of the azygos ACA, first surgically treated with clipping and then with endovascular coiling. A 37-year-old woman at 34 weeks' gestation was transferred to our emergency room with sudden onset of severe headache and vomiting. Computed tomography (CT) revealed subarachnoid hemorrhage in the basal cisterna and the sylvian and interhemispheric fissures. Cerebral angiography showed an azygos ACA, a saccular aneurysm at the junction of the azygos ACA and the right A1 segment. A right fronto-temporal craniotomy was performed in the day of admission, and the neck of the aneurysm was clipped. One year later, an angiographic control examination revealed a regrowth of the aneurysm. The patient underwent endovascular treatment with coiling. Aneurysms of the azygos ACA are rare and their pathogenesis and course are still a matter of discussion. Developmental abnormalities or dynamic vessel wall stresses can explain the high incidence of aneurysms in these cases. The association of a rare anatomical variant with an aneurysm in the same location may suggest an embryogenesis alteration in the Willis circulation.

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3’UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future clinical trials with antisense oligonucleotides in DM1 patients, it is important to set up sensitive and minimally-invasive tools to monitor the efficacy of treatments on skeletal muscle. A tibialis anterior (TA) muscle sample of about 60 mg was obtained from 5 DM1 patients and 5 healthy subjects through a needle biopsy. A fragment of about 40 mg was used for histological examination and a fragment of about 20 mg was used for biomolecular analysis. The TA fragments obtained with the minimally-invasive needle biopsy technique is enough to perform all the histopathological and biomolecular evaluations useful to monitor a clinical trial on DM1 patients.

Atti del seminario conclusivo del progetto di ricerca DPC-ReLUIS 2005-2008. Napoli, 4-5 dicembre 2008

In this paper the behaviour of masonry church buildings under seismic actions is examined and discussed. For this purpose, ten basilica churches are analyzed using a “two steps” procedure. In the first step, each building is analyzed in the linear range with 3D finite element models, in order to determine static and dynamic properties, and to evaluate the elastic strength demands. Afterwards, the 3D complex is sub-structured in its constituting macro-elements, and each macro-element is analyzed in the non-linear range up to collapse, in order to determine its horizontal capacity. The results from the first step (strength demand) and second step (strength capacity) are then compared with the purpose of assessing the level of safety/vulnerability of each macro-element and of the global structure.

Background & Aims SCN5A encodes the α-subunit of the voltage-gated sodium channel NaV1.5. Many patients with cardiac arrhythmias caused by mutations in SCN5A also have symptoms of irritable bowel syndrome (IBS). We investigated whether patients with IBS have SCN5A variants that affect the function of NaV1.5. Methods We performed genotype analysis of SCN5A in 584 persons with IBS and 1380 without IBS (controls). Mutant forms of SCN5A were expressed in human embryonic kidney-293 cells, and functions were assessed by voltage clamp analysis. A genome-wide association study was analyzed for an association signal for the SCN5A gene, and replicated in 1745 patients in 4 independent cohorts of IBS patients and controls. Results Missense mutations were found in SCN5A in 13 of 584 patients (2.2%, probands). Diarrhea-predominant IBS was the most prevalent form of IBS in the overall study population (25%). However, a greater percentage of individuals with SCN5A mutations had constipation-predominant IBS (31%) than diarrhea-predominant IBS (10%; P