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OBJECTIVES: Conflicting results about clinical and subclinical atherosclerosis in systemic sclerosis (SSc) and the associated risk factors have been reported. Hence, we aimed to determine the prevalence of clinical and subclinical atherosclerosis in a large number of Italian SSc patients and the associated risk factors. METHODS: This study included 613 SSc patients from 11 Italian tertiary Rheumatologic Units. All patients underwent full history taking, clinical examination, and relevant laboratory and radiological investigations. Doppler ultrasonography (US) of the common carotid and upper and lower limbs was performed to measure carotid and femoral intima-media thickness (cIMT and fIMT), and carotid and peripheral atheroma plaques. Doppler US of the brachial artery was performed to measure flow-mediated dilatation (FMD). RESULTS: Patients were mostly women (91.4%) with a median age of 61 years (range, 20-100); a median disease duration of 14 years (range, 0-77) from the onset of the first non-Raynaud's phenomenon (RP); 9.3% had a history of clinical atherosclerosis (9 stable/unstable angina, 21 myocardial infarctions, 24 heart failure, 3 strokes, 8 transient ischaemic attack, 6 intermittent claudication, 10 atrial thrombo-embolism). In 37.1% of patients, subclinical atherosclerosis was detected, after excluding those with a history of clinical atherosclerosis. The prevalence of clinical and subclinical atherosclerosis was higher than that reported by the European Society of Cardiology and observational studies that enrolled Italian healthy individuals as a control group, respectively. CONCLUSIONS: A higher prevalence of clinical and subclinical atherosclerosis was detected in SSc Italian patients and correlated with traditional and SSc-related risk factors.
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Aterosclerosis , Grosor Intima-Media Carotídeo , Esclerodermia Sistémica , Humanos , Femenino , Esclerodermia Sistémica/epidemiología , Esclerodermia Sistémica/complicaciones , Masculino , Persona de Mediana Edad , Italia/epidemiología , Anciano , Adulto , Prevalencia , Aterosclerosis/epidemiología , Aterosclerosis/diagnóstico por imagen , Aterosclerosis/etiología , Factores de Riesgo , Anciano de 80 o más Años , Adulto Joven , Ultrasonografía Doppler , Enfermedades Asintomáticas , Enfermedades de las Arterias Carótidas/epidemiología , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Placa Aterosclerótica/diagnóstico por imagen , Placa Aterosclerótica/epidemiologíaRESUMEN
OBJECTIVES: No clear-cut guidelines exist for the use of imaging procedures for the diagnosis of idiopathic inflammatory myopathies (IIM). The aim of the present study was to assess the diagnostic accuracy of power Doppler ultrasonography (PDUS) score in IIM patients compared with a control group and its usefulness during follow-up. METHODS: All patients evaluated in the Vasculitis and Myositis Clinic, Rheumatology Unit, University of Siena were prospectively collected. All patients underwent US examination of both thighs in axial and longitudinal scans, which were also performed twice (T1) or three times (T2). RESULTS: Forty-five patients with IIM (median [interquartile range] age 55 [45-66] years; 35 female) were enrolled. Receiver operating characteristic curves distinguished patients and controls based on ∑power Doppler (PD), ∑oedema, ∑atrophy and CRP. The best cut-off value for ∑PD was 0.5, ∑oedema 1.5, ∑atrophy 0.5 and CRP 0.22 mg/dl. In a logistic regression analysis, the variables that most influenced diagnosis of IIM were ∑PD and ∑oedema (P = 0.017 and P = 0.013, respectively). ∑Oedema was lower at T1 (P = 0.0108) and T2 (P = 0.0012) than at T0. Likewise, ∑PD was lower at T1 (P = 0.0294) and T2 (P = 0.0420) than at T0. Physician global assessment was lower at T1 (P = 0.0349) and T2 (P = 0.0035) than at baseline. CONCLUSION: Our findings show that PDUS is a reliable diagnostic tool in the differential diagnosis between inflammatory and non-inflammatory myopathies. Moreover, PDUS can be employed also during the follow-up of patients with IIM. A reduction in disease activity, measured by physician global assessment, led to a concomitant decrease in both oedema and PD, which was directly correlated with their rate of change. This underlines the close link between clinical assessment and PDUS findings, not only at diagnosis but also during monitoring.
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Miositis , Humanos , Femenino , Persona de Mediana Edad , Miositis/diagnóstico por imagen , Ultrasonografía Doppler/métodos , Curva ROCRESUMEN
INTRODUCTION: Health administrative databases are widely used for the estimation of the prevalence of Parkinson's disease (PD). Few in general, and none used in Italy, have been validated by testing their diagnostic accuracy. The primary objective was to validate two algorithms for the identification of persons with PD using clinical diagnosis as the reference standard on an Italian sample of people with PD. The second objective was to estimate 10-year trends in PD prevalence in the Bologna Local Health Trust from 2010 to 2019. METHODS: Two algorithms (index tests) applied to health administrative databases (hospital discharge, drug prescriptions, exemptions for medical costs) were validated against clinical diagnosis of PD by an expert neurologist (reference standard) in a cohort of consecutive outpatients. Sensitivity and specificity with relative 95% confidence intervals (CIs) were calculated. The prevalence of PD in a specific year was estimated as the ratio between the number of subjects fulfilling any criteria of the algorithm with better diagnostic accuracy and the total population in the same year (×1,000), stratified by age, sex, and district of residence. RESULTS: The two algorithms showed high accuracy for identifying patients with PD: one with greater sensitivity of 94.2% (CI: 88.4-97.6) and the other with greater specificity of 98.1% (CI: 97.7-98.5). For the estimation of prevalence, we chose the most specific algorithm with the fewest total number of misclassified cases. We identified 3,798 people with PD as of December 31, 2019, corresponding to a prevalence of 4.3 per 1,000 inhabitants (CI: 4.2-4.4). Prevalence was higher in males (4.7, CI: 4.5-5.0) than females (3.8, CI: 3.7-4.0) and increased with age. The crude prevalence over time was slightly elevated as it followed a progressive aging of the population. When stratifying the prevalence for age groups, we did not observe a trend except in the 45-64 year category where we observed an increasing trend over time. CONCLUSION: Algorithms based on administrative data are accurate when detecting people with PD in the Italian public health system. In a large northern Italian population, increased prevalence of about 10% was observed in the decade 2010-2019 and is explained by increased life expectancy. These data may be useful in planning the allocation of health care resources for people with PD.
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Enfermedad de Parkinson , Femenino , Masculino , Humanos , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/epidemiología , Prevalencia , Italia/epidemiología , Algoritmos , Bases de Datos FactualesRESUMEN
PURPOSE: To compare the effects of epidural analgesia (EA) and combined spinal epidural analgesia (SEA) on labor and maternal-fetal outcomes. METHODS: We retrospectively identified and included 1499 patients with a single cephalic fetus who delivered at the study center from January 2015 to December 2018 and received neuraxial analgesia at the beginning of the active phase of labor (presence of regular painful contractions and cervical dilatation between 4 and 6 cm). Data including analgesia, labor characteristics, and maternal-fetal outcomes were retrieved from the prospectively collected delivery room database and medical records. RESULTS: SEA was associated with a shorter first stage of labor than EA, with a median difference of 60 min. On multivariable ordinal logistic regression analysis, neuraxial analgesia, gestational age, fetal weight, labor induction, and parity were independently associated with the first stage length: patients in the EA group were 1.32 times more likely to have a longer first stage of labor (95% CI 1.06-1.64, p = 0.012) than those in the SEA group. Additionally, a significantly lower incidence of fundal pressure was performed among patients who underwent SEA (OR 0.55, 95% CI 0.34-0.9, p = 0.017). No associations were observed between the used neuraxial analgesia technique and other outcomes. CONCLUSIONS: SEA was associated with a shorter length of the first stage of labor and a lower rate of fundal pressure use than EA. Further studies confirming the effects of SEA on labor management and clarifying differences in maternal-fetal outcomes will allow concluding about the superiority of one technique upon the other.
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Analgesia Epidural , Analgesia Obstétrica , Anestesia Raquidea , Trabajo de Parto , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Analgesia Epidural/métodos , Manejo del Dolor/métodos , Analgesia Obstétrica/métodosRESUMEN
Introduction: Based on ACR/EULAR classification criteria, minor salivary glands biopsy (MSGB) is a useful diagnostic tool for the diagnosis of primary Sjögren's syndrome (SS). The main objective of our study was to evaluate the diagnostic role of MSGB, as well as to highlight correlations between histological findings and autoimmune profiles. Material and methods: We retrospectively evaluated histological and autoimmunity data from patients who underwent MSGB in our department in cases of suspected SS, from March 2011 to December 2018. Salivary gland samples were evaluated using Chisholm and Mason (CM) grading and the focus score (FS). Results: A total of 1,264 patients (108 males, 1,156 females) were included. The median age was 55.22 ±13.51 years (range: 15-87). In univariate binary logistic regression, CM ≥ 3 and FS ≥ 1 were significantly predicted by antinuclear antibodies (ANA), anti-extractable nuclear antigens (ENA) and anti-Ro/SSA titer as well as anti-La/SSB, anti-Ro/SSA, rheumatoid factor (RF) and anti-citrullinated protein antibodies (ACPA) positivity. In multivariate analysis, CM ≥ 3 and MSGB positivity were significantly associated with ANA titer; FS ≥ 1 was not associated with laboratory findings. A positive biopsy was associated with laboratory findings, as ANA and ENA titers, anti-Ro/SSA, anti-La/SSB, RF and ACPA positivity may discriminate patients with SS-related histological findings. Conclusions: Minor salivary glands biopsy is a useful tool to diagnose SS in cases of highly suggestive clinical symptoms but in the absence of a specific autoimmunity.
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BACKGROUND: The patterns of long term risk of SARS-CoV-2 infection, hospitalization for COVID-19 and related death are uncertain in people with Parkinson's disease (PD) or parkinsonism (PS). The aim of the study was to quantify these risks compared to a control population cohort, during the period March 2020-May 2021, in Bologna, northern Italy. METHOD: ParkLink Bologna cohort (759 PD; 192 PS) and controls (9,226) anonymously matched (ratio 1:10) for sex, age, district, comorbidity were included. Data were analysed in the whole period and in the two different pandemic waves (March-May 2020 and October 2020-May 2021). RESULTS: Adjusted hazard ratio of SARS-CoV-2 infection was 1.3 (95% CI 1.04-1.7) in PD and 1.9 (1.3-2.8) in PS compared to the controls. The trend was detected in both the pandemic waves. Adjusted hazard ratio of hospitalization for COVID-19 was 1.1 (95% CI 0.8-1.7) in PD and 1.8 (95% CI 0.97-3.1) in PS. A higher risk of hospital admission was detected in PS only in the first wave. The 30-day mortality risk after hospitalization was higher (p=0.048) in PS (58%) than in PD (19%) and controls (26%). CONCLUSIONS: Compared with controls, after adjustment for key covariates, people with PD and PS showed a higher risk of SARS-CoV-2 infection throughout the first 15 months of the pandemic. COVID-19 hospitalization risk was increased only in people with PS and only during the first wave. This group of patients was burdened by a very high risk of death after infection and hospitalization.
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OBJECTIVES: To evaluate the efficacy and safety of intravenous (iv) neridronate in patients affected by transient osteoporosis of the hip (TOH). METHODS: We retrospectively evaluated the clinical records of patients affected by TOH treated with iv neridronate in our department. We treated patients with a value of visual analogue scale (VAS)-pain ≥ 80/100 mm at diagnosis, limited range of movement and magnetic resonance images (MRI) findings suggestive of TOH. The regimen used was: one iv infusion at day 0, 3, 6, 9 (100 mg for each infusion: total of 400 mg). This protocol was repeated in refractory cases. Recovery was defined as VAS-pain level ≤20/100. Concomitant use of analgesics was allowed. Paired Student t-test was used to assess VAS-pain change. RESULTS: Five patients were male, 3 were female. Mean age was 54.5±2.12 years old. Mean body mass index was 26.57±2.22. Mean time to diagnosis, since the onset of the symptoms, was 75±21.21 days. Mean number of neridronate infusions was 7.5±2.56. Mean time of recovery was 57±45.96 days. Mean VAS-pain at baseline was 84±2,24. Mean VAS-pain after treatment was significantly reduced (p<0.001) with a value of 12.12±6.46. None of the patients needed analgesics after treatment. No adverse event was reported. In 5 cases, post-treatment MRI showed complete bone marrow oedema resolution. CONCLUSIONS: Intravenous neridronate is effective and safe in the treatment of TOH and its use may lead to a faster resolution of the disease.
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Difosfonatos , Osteoporosis , Enfermedad Aguda , Difosfonatos/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Osteoporosis/diagnóstico por imagen , Osteoporosis/tratamiento farmacológico , Dolor/tratamiento farmacológico , Dolor/etiología , Estudios RetrospectivosRESUMEN
Objectives: IgG4-related disease is a potentially systemic disease mimicking and overlapping with different autoimmune diseases, such as primary Sjögren's syndrome (pSS). The involvement of salivary glands, previously called Mikulicz's disease, has been reclassified as IgG4-related sialadenitis (SA). The aim of this study was to assess the prevalence of IgG4-SA in a cohort of Italian Caucasian patients presenting with xerostomia and to evaluate the eventual overlap between IgG4-SA and pSS. Material and methods: We included 154 patients - 15 males and 139 females, mean age 54.18 ±14.24 years, who underwent minor salivary gland biopsy between March and December 2019 for xerostomia. Histopathology was evaluated using Chisholm-Mason (CM) and focus score (FS) for pSS and immunohistochemical study with IgG4 staining for IgG4-SA were performed. Serum autoantibodies (anti-SSa/RoAb, anti-SSB/LaAb, antinuclear antibodies, rheumatoid factor) were also assessed. Results: In 69 patients (44.8%) FS 0 was found, while FS ≥ 1 was presented in 85 (55.2%). Chisholm-Mason score < 3 and CM ≥ 3 was found in 73 (47.4%) and 81 (52.6%) cases, respectively. IgG4/high-power field level was 20 in 3 pSS patients (1.9%), but none of them had an IgG4/IgG ratio ≥ 40, as well as tissue fibrosis with storiform pattern, obliterative vasculitis, and tissue eosinophilia. The diagnosis of pSS, was confirmed in 92 patients (59.74%). No patient was definitively diagnosed with an IgG4-related disease. Conclusions: In the case of xerostomia, the evaluation of the histopathological specimen for IgG4 should not be routinely performed, at least in an Italian-based Caucasian population. Moreover, immunohistochemistry should not be requested in the case of a negative result of biopsy for pSS.
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Introduction: Bone loss is a common feature in several autoimmune and chronic inflammatory diseases, such as rheumatoid arthritis (RA). Indeed, the high levels of pro-inflammatory cytokines seem to enhance bone resorption and to diminish bone formation, thus producing an uncoupling between osteoclast and osteoblast function and favoring the onset of juxtarticular as well as systemic osteoporosis. Many papers underline the high prevalence of osteoporosis in RA, as well as the negative correlation between interleukin 6 (IL-6) serum levels and bone mineral density (BMD). The aim of this study was to assess the effectiveness of one-year treatment with tocilizumab (TCZ), the first approved IL-6 receptor inhibitor, in reducing bone loss in RA. Material and methods: We enrolled 18 patients fulfilling 2010 ACR and EULAR criteria for RA from our arthritis outpatient clinic, assessing clinical and biochemical parameters during a 12-month period. The patients received TCZ 8 mg/kg i.v. every 4 weeks and underwent dual energy X-ray absorptiometry (DXA) for the measurement of bone mineral density (BMD) at baseline and at the end of study. Serum levels of C-reactive protein (CRP), erythrocytes sedimentation rate (ESR), IL-6, serum CrossLaps, osteoprotegerin (OPG), receptor activator of nuclear factor κß ligand (RANK-L) and dickkopf-1 (DKK-1) were measured at baseline, at 6 months and 1 year. Results: No significant difference in IL-6, RANK-L, DKK-1, OPG and serum CrossLaps levels between baseline, 6 months and 1 year were found. A significant increase of lumbar spine BMD was evidenced after 1 year of TCZ treatment. No difference in total body and femoral neck BMD was documented the end of the study. Conclusions: This study suggest the bone-sparing effect of TCZ in RA affected individuals.
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OBJECTIVES: The objectives of this study were to study with Power Doppler US (PDUS) the SI joints (SIJs) of patients with suspected active sacroiliitis, to describe SIJ flows with spectral wave analysis (SWA) on Doppler US, and to correlate US data with both clinical characteristics and presence of SIJ bone marrow oedema (BME) in subsequent MRI. METHODS: A total of 42 patients (32 females and 10 males, mean age 46.8 years) with recent onset of inflammatory back pain (IBP) were included. Every patient underwent US examination with a convex 1-8 MHz probe [scoring PDUS signals with a three-point scale and describing flows in SWA calculating the mean Resistive Index (RI)] and subsequent MRI of the SIJs. RESULTS: PDUS signals were detected in 34 patients and 62 SIJs. In 29 patients and 56 SIJs, MRI revealed BME. A definite diagnosis of SpA was made in 32 patients. PDUS signals were more frequent (P < 0.0001) in patients with a final diagnosis of SpA, yielding a higher PDUS score (P = 0.0304). PDUS grading correlated with both BME grading (r = 0.740, P = 0.0001) and AS DAS (ASDAS) (r = 0.6257, P = 0.0004), but not with inflammatory reactants nor anthropometric data. Mean RI were, respectively, 0.60 and 0.73 (P < 0.0001) in patients with or without diagnosis of active sacroiliitis. The most inclusive RI cut-off resulted <0.70 [positive predictive value (PPV) 94%, accuracy 90%, P = 0.0001]. The best Likelihood Ratio (5.471) for RI to detect pathologic cases was obtained with a cut-off of <0.60 (PPV 96%). CONCLUSIONS: PDUS and SWA of SIJs demonstrate good diagnostic accuracy for active sacroiliitis compared with MRI.
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Sacroileítis/diagnóstico por imagen , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Articulación Sacroiliaca/diagnóstico por imagen , Sensibilidad y Especificidad , UltrasonografíaRESUMEN
BACKGROUND: Krebs von den Lungen-6 (KL-6) is a high-molecular-weight (200kDa) glycoprotein proposed as a diagnostic biomarker for differentiating interstitial lung disease (ILD). Systemic sclerosis (SSc) is a rare immune-mediated disorder, and ILD is the leading cause of morbidity and mortality. Pleuroparenchymal fibroelastosis (PPFE) has been described to have a poor prognosis in SSc-ILD patients. This study undertook to compare serial changes in KL-6 in SSc-ILD patients with and without PPFE, to verify its prognostic value as a disease biomarker. MATERIALS AND METHODS: Twenty-five SSc-ILD patients (median IQR, 62 (56-58); 20% males) were retrospectively enrolled. 12 SSc-ILD patients (48%) had also a radiological diagnosis of PPFE. Serum KL-6 concentrations were measured by KL-6 reagent assay (Fujirebio Europe, Ghent, Belgium). RESULTS: Serum KL-6 measurements were increased in SSc-ILD patients with and without PPFE compared with healthy controls (P < .0001). Comparative analysis of the rate of variation of KL-6 over the 6 years of follow-up was performed by serial two-yearly KL-6 measurements: Δ1(t1-t0), Δ2(t2-t1) and Δ3(t3-t2). In SSc-ILD patients with PPFE pattern, Δ3 was significantly different than those without PPFE pattern (P = .0020). Serum KL-6 levels were significantly different (P = .0455) either at Δ2 and Δ3 in the PPFE group. In SSc-ILD patients with PPFE, at t3 serum KL-6 concentrations were inversely correlated with FEV1 (r = -.76; P = .037) and FVC percentages (r = -.79; P = .028). CONCLUSION: These results suggest that serial measurements of KL-6 in the follow-up of these patients may help to monitor disease progression. In real life, in SSc-ILD patients PPFE should be always evaluated at CT and when present should suggest a tight follow-up to monitor its evolution.
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Enfermedades Pulmonares Intersticiales/diagnóstico , Mucina-1/sangre , Esclerodermia Sistémica/diagnóstico , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Pruebas de Función Respiratoria , Estudios RetrospectivosRESUMEN
BACKGROUND: The risk of COVID-19 and related death in people with Parkinson's disease or parkinsonism is uncertain. The aim of the study was to assess the risk of hospitalization for COVID-19 and death in a cohort of patients with Parkinson's disease or parkinsonism compared with a control population cohort, during the epidemic bout (March-May 2020) in Bologna, northern Italy. METHODS: Participants of the ParkLink study with the clinical diagnosis of Parkinson's disease or parkinsonism and people anonymously matched (ratio 1:10) for sex, age, district, and Charlson Index were included. The hospital admission rate for COVID-19 (February 26-May 31, 2020) and the death rate for any cause were the outcomes of interest. RESULTS: The ParkLink cohort included 696 subjects with Parkinson's disease and 184 with parkinsonism, and the control cohort had 8590 subjects. The 3-month hospitalization rate for COVID-19 was 0.6% in Parkinson's disease, 3.3% in parkinsonism, and 0.7% in controls. The adjusted hazard ratio (age, sex, district, Charlson Index) was 0.8 (95% CI, 0.3-2.3, P = 0.74) in Parkinson's disease and 3.3 (1.4-7.6, P = 0.006) in parkinsonism compared with controls. Twenty-nine of the infected subjects died; 30-day fatality rate was 35.1%, without difference among the 3 groups. Six of 10 Parkinson's disease/parkinsonism patients had the infection during hospitalization or in a nursing home. CONCLUSIONS: Parkinson's disease per se probably is not a risk factor for COVID-19 hospitalization. Conversely, parkinsonism is an independent risk factor probably because of a more severe health status, entailing higher care dependence and placement in high-infection-risk accommodations. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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COVID-19/epidemiología , Enfermedad de Parkinson/epidemiología , Trastornos Parkinsonianos/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , COVID-19/complicaciones , COVID-19/mortalidad , Estudios de Cohortes , Femenino , Anciano Frágil , Hospitalización/estadística & datos numéricos , Humanos , Italia/epidemiología , Tiempo de Internación , Masculino , Persona de Mediana Edad , Casas de Salud , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/mortalidad , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/mortalidad , Admisión del Paciente/estadística & datos numéricos , RiesgoRESUMEN
INTRODUCTION: Known risk factors for multiple sclerosis (MS) include smoking, a low vitamin D status, obesity, and EBV, while the inflammatory feature of the disease strongly suggests the presence of additional infectious agents. The association between use of antibiotics and MS risk that could shed light on these factors is still undetermined. We aimed to evaluate the association between antibiotics and MS risk, in the Emilia-Romagna region (RER), Italy. METHODS: All adult patients with MS seen at any RER MS center (2015-2017) were eligible. For each of the 877 patients included, clinical information was collected and matched to 5 controls (RER residents) (n = 4,205) based on age, sex, place of residence, and index year. Information on antibiotic prescription was obtained through the linkage with the RER drug prescription database. RESULTS: Exposure to any antibiotic 3 years prior to the index year was associated with an increased MS risk (OR = 1.52; 95% CI = 1.29-1.79). Similar results were found for different classes. No dose-response effect was found. DISCUSSION/CONCLUSIONS: Our results suggest an association between the use of antibiotics and MS risk in RER population. However, further epidemiological studies should be done with information on early life and lifestyle factors.
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Antibacterianos , Esclerosis Múltiple , Adulto , Antibacterianos/efectos adversos , Estudios de Casos y Controles , Humanos , Italia/epidemiología , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple/epidemiología , Obesidad , Factores de RiesgoRESUMEN
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity. Clinically, patients show severe and progressive gastrointestinal and neurological manifestations. The onset typically occurs in the second decade of life and mean age at death is 37 years. Signs and symptoms of MNGIE are heterogeneous and confirmatory diagnostic tests are not routinely performed by most laboratories, accounting for common misdiagnosis. Factors predictive of progression and appropriate tests for monitoring are still undefined. Several treatment options showed promising results in restoring the biochemical imbalance of MNGIE. The lack of controlled studies with appropriate follow-up accounts for the limited evidence informing diagnostic and therapeutic choices. The International Consensus Conference (ICC) on MNGIE, held in Bologna, Italy, on 30 March to 31 March 2019, aimed at an evidence-based consensus on diagnosis, prognosis, and treatment of MNGIE among experts, patients, caregivers and other stakeholders involved in caring the condition. The conference was conducted according to the National Institute of Health Consensus Conference methodology. A consensus development panel formulated a set of statements and proposed a research agenda. Specifically, the ICC produced recommendations on: (a) diagnostic pathway; (b) prognosis and the main predictors of disease progression; (c) efficacy and safety of treatments; and (f) research priorities on diagnosis, prognosis, and treatment. The Bologna ICC on diagnosis, management and treatment of MNGIE provided evidence-based guidance for clinicians incorporating patients' values and preferences.
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Enfermedades Gastrointestinales/diagnóstico , Enfermedades Gastrointestinales/terapia , Encefalomiopatías Mitocondriales/diagnóstico , Encefalomiopatías Mitocondriales/terapia , Consenso , ADN Mitocondrial/genética , Enfermedades Gastrointestinales/genética , Enfermedades Gastrointestinales/metabolismo , Humanos , Cooperación Internacional , Encefalomiopatías Mitocondriales/genética , Encefalomiopatías Mitocondriales/metabolismo , Mutación , Timidina Fosforilasa/genética , Timidina Fosforilasa/metabolismoRESUMEN
OBJECTIVES: To evaluate differences of injection related pain, and the accuracy of the techniques in two groups of overweight patients, performing the anterolateral approach for one group (G1) and the superolateral approach for the second group (G2). MATERIAL AND METHODS: In the study, 126 knee joints from 86 osteoarthritis (OA) patients were evaluated. Inclusion criteria were body mass index (BMI) ≥ 25, absence of effusion and coagulopathy. Pain evaluation during injection was evaluated with Visual Analogue Scale (VAS), while accuracy of the procedure was evaluated with ultrasound (US). RESULTS: The patients' mean age was 69.9 ±9.01, VAS for G1 group was 1.71 ±1.89, for G2 group was 1.74 ±1.31. Mean BMI was 29.69 ±2.86, for G1 group was 28.29 ±3.29, for G2 group was 30.32 ±2.41. No adverse events (AE) occurred in both studied groups. The accuracy rate of the procedure was 69.1% for G1 (38/55 knees), 95.7% for G2 (68/71 knees). No significant difference was found in VAS pain score between G1 and G2 group (p = 0.45). We found the significant correlation between BMI and VAS pain score in anterolateral accesses (G1) (r = 0.51; p < 0.005). No correlation was found between age and VAS pain score in anterolateral access (G1). For the superolateral access (G2), no correlation was found for age or BMI and VAS pain score. CONCLUSIONS: Hyaluronic acid injection is safe therapeutic option for knee OA with no significant differences between anterolateral and superolateral approaches in terms of pain in overweight patients. However, higher BMI seems to be a predictor of pain in anterolateral access, and the superolateral approach should be preferred in this group of patients.
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OBJECTIVES: Sarcopenia is the pathological reduction of skeletal muscle mass and strength. This condition is often underestimated in clinical practice, particularly in connective tissue diseases. The purpose of this study is to evaluate the prevalence of low muscle mass in primary Sjögren's syndrome (pSS) and to explore the relationships linking muscles and bone tissue. MATERIAL AND METHODS: Twenty-eight postmenopausal pSS patients were matched with 30 healthy controls and their body composition analysis was performed by dual-energy X-ray absorptiometry to investigate for sarcopenia considering appendicular lean mass (ALM) and the skeletal muscle mass index (SMI) as references. Bone mineral density analysis of lumbar spine (L1-L4), whole femur, femoral neck and whole body was also performed. Linear regression was used to assess the relationship between body composition and bone mineralization. RESULTS: Low muscle mass was significantly higher in the pSS group compared to controls whether expressed as ALM, SMI [odds ratio (OR) = 18.40, confidence interval (CI): 4.84-72.08, p < 0.0001] or considering total body lean masses. Lean masses appeared to be the best estimators of bone mineralization: total lean body mass (TLBM) lumbar spine R 2 = 0.72, p < 0.0001; TLBM femoral neck R 2 = 0.36, p < 0.004; lean mass of upper limbs lumbar spine R 2 = 0.70, p < 0.0001; femoral neck R 2 = 0.66; lean mass of lower limbs lumbar spine R 2 = 0.66, p < 0.0001; femoral neck R 2 = 0.44, p = 0.008). Primary Sjögren's syndrome patients had a significantly higher android/gynoid fat ratio compared to controls. CONCLUSIONS: Female pSS patients have lower muscle mass compared to healthy controls and are exposed to a higher risk of developing sarcopenia than healthy subjects. Our research demonstrates that the amount of lean tissue is the main predictor of bone mineralization in pSS.
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OBJECTIVE: Osteoporosis is the most common bone tissue disease and it is characterized by a reduced bone mineral density (BMD). The main physiopathological mechanisms converge on the uncoupling between bone formation and resorption, thus leading to an enhanced risk of fractures. Several papers have documented the inverse relationships linking high inflammatory cytokines, anti-citrullinated protein antibodies, rheumatoid factor, and BMD in rheumatoid arthritis (RA). Rituximab (RTX) is a chimeric monoclonal antibody directed against the CD20 receptor of B cells. Since the Food and Drug Administration approved it for RA in 2006, there have been many clinical experiences regarding its use. Nevertheless, few studies evaluate the effect of rituximab on BMD. RA is a disease characterized by immune dysfunction with high levels of inflammatory cytokines, autoantibodies, and it is reasonable that a B cell depleting therapy could restore a physiological cytokine balance, thus exerting an osteoprotective effect on the bone tissue. The purpose of this paper is to highlight any difference in BMD and to assess differences in body composition over a retrospective 18-month follow-up period after RTX treatment with a B cell depleting therapy. MATERIAL AND METHODS: We analyzed by dual energy X-ray absorptiometry BMD expressed as g/cm2 and body composition modifications over 18 months with RTX treatment of 20 postmenopausal RA patients. RESULTS: After eighteen months of therapy with RTX, a statistically significant increase in vertebral (L1-L4) BMD and the stability of femoral BMD were documented. CONCLUSIONS: Rituximab is associated with an improvement of vertebral and preservation of femoral BMD, suggesting a bone-sparing effect due to B cell depletion. Furthermore, patients displayed a redistribution of fat masses toward the hip region.
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The purpose of this paper is to bring attention to the complex issue of conflicts of interest (COIs) from the point of view of Scientific Societies and their responsibility in managing secondary interests possibly undermining their activities such as improvement of professional quality, research promotion, and development of guidelines. The first publication on the issue of COIs dates back to more than a century, but only in the last decades the related ethical and legal problems have received public and professional attention. The growing role of industry in biomedical research, the significant decrease in public contributions to health, care, training, and research, and the involvement of physicians in industry-funded research have obliged to study how to identify and manage COIs. The Bioethics and Palliative Care Study Group of the Italian Neurological Society addressed the issue with a specific focus on Scientific Societies that, in our opinion, should also set an example for individual practice, raising awareness among their associates on COIs and implementing strategies for their identification and management. The paper is focused on the nature of the COI, why and how it could be managed, which policies can be implemented, and which kind of action should be considered by Scientific Societies. We emphasize the role of Scientific Societies in fostering knowledge and awareness of conflicts of interest through training and continuing education.
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Investigación Biomédica , Médicos , Conflicto de Intereses , Humanos , Sociedades Médicas , Sociedades CientíficasRESUMEN
BACKGROUND AND OBJECTIVES: A few studies have found that low scores on self-rated health and quality of life measures are associated with following worsening disability in multiple sclerosis (MS). We wanted to estimate the association between self-rated quality of life scores among patients with clinically isolated syndrome (CIS) and the risk of subsequent conversion to definite MS. METHODS: One hundred sixty-two patients from the GERONIMUS cohort with a symptom or sign suggestive of MS and without a definite diagnosis of MS at the time of inclusion were asked to evaluate their health-related quality of life according to MSQoL-54 scale. They were clinically assessed and mood and depression scales were applied. The association between the scores of these scales and the risk of converting to definite MS during a 5-year follow-up was estimated using the Cox- proportional hazard regression model. RESULTS: Quality of life at examination was significantly lower compared to those of an age- and sex-adjusted general Italian population. During the follow-up, 116 patients (72%) converted to definite MS. No significant predictive effects were found for the summary scales of MSQol-54 or other scales. The estimates did not change after adjusting for age, sex, BMI, education, MRI findings, Expanded Disability Status Scale (EDSS) score, and treatment at time of examination. CONCLUSION: Persons with CIS in this cohort reported reduced self-rated quality of life compared to the general population, but variation in these scores was not associated with subsequent conversion from CIS to clinical definite MS.
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Enfermedades Desmielinizantes/diagnóstico , Enfermedades Desmielinizantes/psicología , Progresión de la Enfermedad , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/psicología , Calidad de Vida/psicología , Adulto , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Italia/epidemiología , Masculino , Estudios Prospectivos , Factores de Riesgo , AutoimagenRESUMEN
OBJECTIVES: To assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011). METHODS: We identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009-2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto- CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP. Records from different registries were linked. RESULTS: We identified 145 243 pregnancies: 111 284 deliveries, 16 408 spontaneous abortions and 17 551 TOPs. Six hundred and eleven pregnancies (0.42%; 95% Cl 0.39 to 0.46) were exposed to AEDs. In the AED-exposed group 21% of pregnancies ended in TOPs vs 12% in the non-exposed women (OR: 2.24; 95% CI 1.41 to 3.56). Rates of spontaneous abortions, stillbirths, neonatal distress and SGA were comparable. Three hundred and fifty-three babies (0.31%; 95% CI 0.28 to 0.35) were exposed to AEDs during the first trimester. MBD rates were 2.3% in the exposed vs 2.0% in the non-exposed pregnancies (OR: 1.12, 95% CI 0.55 to 2.55). CONCLUSION: The Emilia Romagna prevalence of AED exposure in pregnancy was 0.42%, comparable with previous European studies. Rates of spontaneous abortions, stillbirths, neonatal distress, SGA and MBDs following AED exposure were not significantly increased. The rate of TOPs was significantly higher in the AED-exposed women.