35 results on '"De Silvestri, Annalisa"'
Search Results
2. OS-120 Bulevirtide monotherapy prevents liver decompensation and reduces mortality in patients with HDV-related cirrhosis: a case control study with propensity score weighted analysis
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Degasperi, Elisabetta, De Silvestri, Annalisa, Anolli, Maria Paola, Sambarino, Dana, Borghi, Marta, Perbellini, Riccardo, Facchetti, Floriana, Soffredini, Roberta, Monico, Sara, de Lédinghen, Victor, Metivier, Sophie, Jachs, Mathias, Reiberger, Thomas, D'Offizi, Giampiero, Dietz-Fricke, Christopher, Papatheodoridis, George, Brunetto, Maurizia, Verucchi, Gabriella, Ciancio, Alessia, Zoulim, Fabien, Mangia, Alessandra, Hilleret, Marie-Noëlle, Santantonio, Teresa, Coppola, Nicola, Pellicelli, Adriano, Roche, Bruno, Causse, Xavier, Dalteroche, Louis, Dumortier, Jérôme, Ganne-Carrié, Nathalie, Heluwaert, Frederic, Ollivier-Hourmand, Isabelle, Loglio, Alessandro, Federico, Alessandro, Pileri, Francesca, Maracci, Monia, Tonnini, Matteo, Arpurt, Jean-Pierre, Barange, Karl, Billaud, Eric, Pol, Stanislas, Gervais, Anne, Franza, Anne Minello, Rosa, Isabelle, Puoti, Massimo, and Lampertico, Pietro
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- 2024
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3. HLA polymorphisms in Italian children with autism spectrum disorders: Results of a family based linkage study
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Guerini, Franca R., Bolognesi, Elisabetta, Chiappedi, Matteo, De Silvestri, Annalisa, Ghezzo, Alessandro, Zanette, Michela, Rusconi, Beatrice, Manca, Salvatorica, Sotgiu, Stefano, Agliardi, Cristina, and Clerici, Mario
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- 2011
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4. The impact of adiposity indices on lung function in children with respiratory allergic diseases.
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D'Auria, Enza, Calcaterra, Valeria, Gasparini, Chiara, De Silvestri, Annalisa, Lamberti, Rossella, Ghezzi, Michele, and Zuccotti, GianVincenzo
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OBESITY ,RESPIRATORY allergy ,RHINITIS ,RETROSPECTIVE studies ,ASTHMA in children ,VITAL capacity (Respiration) ,PULMONARY function tests ,FORCED expiratory volume ,BODY mass index ,ADIPOSE tissues - Abstract
The effect of obesity on lung function in children stratified by asthma status is not fully elucidated. We evaluated the impact of adiposity indices, including Body Mass Index (BMI) and estimated fat mass (eFT), on lung changes in asthmatic and non-asthmatic children with rhinitis. We performed a retrospective review of 400 pediatric patients, classified into an asthma group (n = 200) and a no-asthma group (n = 200). According to the BMI z-score all subjects were classified into normal-weight patients (NW; −2 ≤ BMI z-score <1) and overweight patients/patients with obesity (OW/OB; BMI z-score ≥1). Lung function parameters were measured by spirometry. BMI and eFM were considered as adiposity indices. Excess weight/obesity was present in 37 % of patients. The OW/OB group showed higher basal forced expiratory vital capacity (FVC) and lower forced expiratory volume in 1 s (FEV 1), FEV 1 /FVC ratio compared to the NW group (p ≤ 0.01). FVC and FEV 1 were correlated with the BMI z-score, and FEV 1 /FVC with eFT (p ≤ 0.01). No differences were noted between the NW and the OW/OB groups in terms of respiratory parameters except for FVC (p < 0.01). In the OW/OB group, asthma patients were significantly different based on FEV 1 , FEV 1 /FVC, and forced expiratory flow at 25–75 % of FVC (FEF 25/75) (p < 0.01). The BMI z-score was correlated with FVC and FEV 1 in both the no-asthma and asthma groups (p ≤ 0.01 and p ≤ 0.05, respectively), while eFM was correlated with FEV 1 /FVC (p = 0.007) in the asthma group only. Obesity seems to have a significant impact on lung function in children with respiratory allergic diseases. BMI and eFM may be used to evaluate the impact of adiposity on lung function. [ABSTRACT FROM AUTHOR]
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- 2022
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5. Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients
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Rossi, Laura, Leveri, Michela, Gritti, Chiara, De Silvestri, Annalisa, Zavaglia, Claudio, Sonzogni, Laura, Silvestri, Laura, Civardi, Emilio, Mondelli, Mario U, and Silini, Enrico M
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- 2003
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6. Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
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Masnada, Silvia, Parazzini, Cecilia, Bini, Paolo, Barbarini, Mario, Alberti, Luisella, Valente, Marialuisa, Chiapparini, Luisa, De Silvestri, Annalisa, Doneda, Chiara, Iascone, Maria, Saielli, Laura Assunta, Cereda, Cristina, Veggiotti, Pierangelo, Corbetta, Carlo, and Tonduti, Davide
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BASAL ganglia ,DEVELOPMENTAL delay ,DISEASE progression ,DEGENERATION (Pathology) - Abstract
ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation. Despite that the clinical spectrum of the disease has not been defined so far due to the absence of previous systematic reviews and descriptions of large series of patients. We performed a systematic literature review of so far reported ECHS1 mutated patients and we reported two additional cases. We pointed out clinical and neuroradiological features of all patients. 45 patients were included in the analysis. Based on clinical and neuroradiological feature we were able to distinguish four main phenotypes of ECHS1deficiency: a severe neonatal presentation with a rapid and fatal course and significant white matter abnormalities; a severe infantile variant with slower neurological deterioration, developmental delay, pyramidal and extrapyramidal signs, optic atrophy, feeding difficulties, and degeneration of the deep gray nuclei; a slowly progressive infantile form, qualitatively similar to the previous phenotype, but less severe with mainly basal ganglia involvement; and a final phenotype, present in only few cases, characterized by paroxysmal exercise-induced dystonic attacks, normal neurological examination between these episodes, and isolated pallidal degeneration on MRI. ECHS1 mutations cause metabolic encephalopathy with a wide range of clinical presentations that can be grouped into four main phenotypes, each with a distinct profile in terms of severity on clinical presentation, disease course and MRI involvement. • ECHS1 mutations cause a metabolic encephalopathy with a wide range of clinical presentations. • Our study, on the basis of clinical and neuroradiological features, distinguish four main forms of ECHS1 deficiency. • The differences in phenotypes predict differences in clinical outcomes. [ABSTRACT FROM AUTHOR]
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- 2020
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7. Inferior vena cava, abdominal aorta, and IVC-to-aorta ratio in healthy Caucasian children: Ultrasound Z-scores according to BSA and age.
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Mannarino, Savina, Bulzomì, Patrizia, Codazzi, Alessia Claudia, Rispoli, Gaetana Anna, Tinelli, Carmine, De Silvestri, Annalisa, Manzoni, Federica, and Chiapedi, Silvia
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• The point of care ultrasound: a diagnostic tool for the assessment of volume status. • The reference pediatric ranges for the measurement of inferior vena cava (IVC), aorta (AO) and IVC/AO ratio. • Age can be used as an independent variable in emergency conditions. The pediatric ultrasound measurement of the inferior vena cava (IVC) and aorta (AO) with the study of the collapsibility index (CI) and of IVC-to-AO ratio (IVC/AO) can provide clinicians in the acute care setting with information on abnormal volume status but one of the major limitations is a lack of reference normal values by body surface area (BSA) and age. The aim of this study was to provide reference ranges for the sonographic measurement of IVC, AO, and IVC/AO ratio in healthy Caucasian Italian children. We enrolled prospectively 516 healthy Caucasian Italian children aged between 1 month and 16 years. Echocardiographic IVC and AO diameters were collected and presented separately for children aged ≤1 year and for children aged over 1 year. For children >1 year we categorized subjects into 3 years classes. CI and IVC/AO for the systolic aortic diameter were then calculated. For children over 1 year, age reference ranges were age-related or BSA-related; for children of ≤1 year, reference ranges were determined with their 90% confidence intervals regardless of age and of BSA. Tables and charts with reference ranges for all the echocardiographic measurements are presented for children aged >1 year according to age and BSA. The equations to obtain percentile and Z -score for each echocardiographic measurement are provided. The reference ranges for children aged ≤1 year are shown considering the small 90% confidence intervals for upper and lower limits. CI was 30% (SD 17%) in children >1 year and 36% (SD 16%) in children <1 year. IVC/AOs showed age-dependent values from 0.83 (SD 0.20) age <1 year to 1.22 (SD 0.31) in older subjects. We report reliable reference ranges for echocardiographic measurement of IVC, AO, CI, and IVC/AO for a Caucasian Italian healthy pediatric population. [ABSTRACT FROM AUTHOR]
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- 2019
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8. Lights and shadows of SARS-CoV-2 infection risk assessment in endoscopy.
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Grassia, Roberto, Testa, Sophie, De Silvestri, Annalisa, Drago, Andrea, Cereatti, Fabrizio, and Conti, Clara Benedetta
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- 2020
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9. Adherence to quality criteria improves concordance between transient elastography and ElastPQ for liver stiffness assessment—A multicenter retrospective study.
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Ferraioli, Giovanna, De Silvestri, Annalisa, Reiberger, Thomas, Taylor-Robinson, Simon D., de Knegt, Robert J., Maiocchi, Laura, Mare, Ruxandra, Bucsics, Theresa, Atzori, Sebastiana, Tinelli, Carmine, and Sporea, Ioan
- Abstract
Abstract Background Assessment of liver stiffness provides important diagnostic and prognostic information in patients with chronic liver disease. Aims To investigate whether the use of quality criteria (i) improves the concordance between transient elastography (TE) and a novel point shear wave elastography technique (ElastPQ
® ) and (ii) impacts on the performance of ElastPQ® for liver fibrosis staging using TE as the reference standard. Methods In this multicenter retrospective study, data of patients undergoing liver stiffness measurements (LSM) in five European centers were collected. TE was performed with FibroScan® (Echosens, France) and ElastPQ® with EPIQ® or Affiniti® systems (Philips, The Netherlands). The agreement between TE and ElastPQ® LSMs was assessed with Lin's concordance correlation coefficient (CCC). Diagnostic performance of ElastPQ® was assessed by the area under receiver operating characteristic (AUROC) curves. Results Overall, 664 patients were included: mean age: 54.8(13.5) years, main etiologies: viral hepatitis (83.1%) and NAFLD (7.5%). CCC increased significantly when LSMs with ElastPQ® were obtained with IQR/M ≤ 30% (p < 0.001). The diagnostic performance of ElastPQ® for fibrosis staging also increased if LSM values were obtained with IQR/M ≤ 30%. Conclusion Quality criteria should be followed when using ElastPQ® for LSM, since the concordance with TE fibrosis staging was better at an ElastPQ® IQR/M ≤ 30. [ABSTRACT FROM AUTHOR]- Published
- 2018
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10. HLA-DRB1 alleles and juvenile idiopathic arthritis: Diagnostic clues emerging from a meta-analysis.
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De Silvestri, Annalisa, Capittini, Cristina, Poddighe, Dimitri, Marseglia, Gian Luigi, Mascaretti, Luca, Bevilacqua, Elena, Scotti, Valeria, Rebuffi, Chiara, Pasi, Annamaria, Martinetti, Miryam, and Tinelli, Carmine
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JUVENILE idiopathic arthritis , *RHEUMATOID arthritis diagnosis , *DISEASE susceptibility , *RHEUMATOID factor , *CLINICAL trials , *IMMUNOGENETICS - Abstract
Juvenile Idiopathic Arthritis (JIA) is characterized with a variable pattern of articular involvement and systemic symptoms and, thus, it has been classified in several subtypes. Genetic predisposition to JIA is mainly due to HLA class II molecules (HLA-DRB1, HLA-DPB1), although HLA class I molecules and non-HLA genes have been implicated, too. Here, we carried out a meta-analysis including selected studies designed to assess HLA genetic background of JIA patients, compared to healthy controls; particularly, we focused our attention on HLA-DRB1. In summary, our meta-analysis showed four main findings regarding HLA-DRB1 locus as a genetic factor of JIA: i) HLA-DRB1*08 is a strong factor predisposing to JIA, both for oligo-articular and poly-articular forms (oJIA > pJIA); ii) HLA-DRB1*01 and HLA-DRB1*04 may be involved in the genetic predisposition of Rheumatoid Factor (RF) positive forms of JIA; iii) HLA-DRB1*11 was confirmed to be predisposing to oligo-articular JIA; iv) HLA-DRB1*04 was confirmed to have a role in systemic JIA. Importantly, RF positivity seems to select the JIA clinical subset with the strongest immunogenetic similarities with adult rheumatoid arthritis. [ABSTRACT FROM AUTHOR]
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- 2017
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11. A Meta-Analysis of Remote Monitoring of Heart Failure Patients
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Klersy, Catherine, De Silvestri, Annalisa, Gabutti, Gabriella, Regoli, François, and Auricchio, Angelo
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META-analysis , *HEART failure patients , *PATIENT monitoring , *HEALTH outcome assessment , *TELEMETER (Physiological apparatus) , *COHORT analysis , *RANDOMIZED controlled trials - Abstract
Objectives: The purpose of this study was to assess the effect of remote patient monitoring (RPM) on the outcome of chronic heart failure (HF) patients. Background: RPM via regularly scheduled structured telephone contact between patients and health care providers or electronic transfer of physiological data using remote access technology via remote external, wearable, or implantable electronic devices is a growing modality to manage patients with chronic HF. Methods: After a review of the literature published between January 2000 and October 2008 on a multidisciplinary heart failure approach by either usual care (in-person visit) or RPM, 96 full-text articles were retrieved: 20 articles reporting randomized controlled trials (RCTs) and 12 reporting cohort studies qualified for a meta-analysis. Results: Respectively, 6,258 patients and 2,354 patients were included in RCTs and cohort studies. Median follow-up duration was 6 months for RCTs and 12 months for cohort studies. Both RCTs and cohort studies showed that RPM was associated with a significantly lower number of deaths (RCTs: relative risk [RR]: 0.83, 95% confidence interval [CI]: 0.73 to 0.95, p = 0.006; cohort studies: RR: 0.53, 95% CI: 0.29 to 0.96, p < 0.001) and hospitalizations (RCTs: RR: 0.93, 95% CI: 0.87 to 0.99, p = 0.030; cohort studies: RR: 0.52, 95% CI: 0.28 to 0.96, p < 0.001). The decrease in events was greater in cohort studies than in RCTs. Conclusions: RPM confers a significant protective clinical effect in patients with chronic HF compared with usual care. [Copyright &y& Elsevier]
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- 2009
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12. The HLA Alleles DRB1*13 and DQB1*06 Are Associated to Whipple's Disease.
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Martinetti, Miryam, Biagi, Federico, Badulli, Carla, Feurle, Gerhard E., Müller, Christian, Moos, Verena, Schneider, Thomas, Marth, Thomas, Marchese, Alessandra, Trotta, Lucia, Sachetto, Sara, Pasi, Annamaria, De Silvestri, Annalisa, Salvaneschi, Laura, and Corazza, Gino R.
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MAJOR histocompatibility complex ,WHIPPLE'S disease ,MALABSORPTION syndromes ,DISEASE relapse ,BACTERIAL diseases ,HOST-bacteria relationships ,HEALTH outcome assessment ,POLYMERASE chain reaction ,GENETICS - Abstract
Background & Aims: Whipple''s disease is a systemic, chronic, relapsing disorder caused by a combination of environmental (Tropheryma whipplei) and unknown host factors. Because it is a rare disease, the association between HLA type and Whipple''s disease has been studied in only small numbers of patients; these studies have led to conflicting results. We aimed to investigate whether disease phenotype and outcome are associated with HLA type in 122 patients with Whipple''s disease. Methods: Genomic DNA was collected from 103 German, 11 Italian, and 8 Austrian patients with Whipple''s disease, along with 62 healthy Austrian workers exposed to T whipplei (14 stool samples contained the bacterium). HLA class I and II alleles were identified by polymerase chain reaction analysis. Patient genotypes were compared with those of healthy German and Austrian populations; data for Italian controls were obtained from the Pavia HLA bone marrow donors'' bank. Results: HLA-DRB1*13 and DQB1*06 alleles occurred significantly more frequently in patients with Whipple''s disease but not in healthy individuals who had been exposed to T Whipplei. The cumulative odds ratios for disease were 2.23 for the DRB1*13 allele (P < .0001) and 2.25 for the DQB1*06 allele (P < .0001). Conclusions: DRB1*13 and DQB1*06 alleles were found to be risk factors in the largest HLA study ever performed in patients with Whipple''s disease. [Copyright &y& Elsevier]
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- 2009
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13. Nasal Endoscopy in the Clinical Diagnosis of Hereditary Hemorrhagic Telangiectasia.
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Matti, Elina, Lizzio, Roberta, Ugolini, Sara, Maiorano, Eugenia, Zaccari, Dario, De Silvestri, Annalisa, De Sando, Elisabetta, Marseglia, Gian Luigi, Benazzo, Marco, Olivieri, Carla, Pagella, Fabio, and Spinozzi, Giuseppe
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Objectives: To evaluate the role of nasal endoscopy for early clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and to investigate the characteristics of epistaxis and mucocutaneous telangiectases in our pediatric population.Study Design: From May 2016 to December 2019, a cross-sectional observational study was conducted, recruiting children aged 2-18 years with a parent affected by HHT. To identify the Curaçao criteria, all children underwent collection of clinical history, mucocutaneous examination, and nasal endoscopy. The clinical data were then compared with the genetic data acquired subsequently.Results: Seventy children (median age, 10.8 years) were included. All underwent nasal endoscopy without complications. Forty-six children were positive by genetic testing; of these, 26 % had skin and oral telangiectases and 91 % had nasal telangiectases. The diagnostic sensitivity of the Curaçao criteria increased from 28 % (95 % CI, 16%-43 %) to 85 % (95 % CI, 71%-94 %; P < .0001) when the nasal telangiectases were included.Conclusions: The magnified and complete endoscopic view of the nasal cavities proved useful in increasing the diagnostic sensitivity of the Curaçao criteria. Such an examination turned out to be feasible and safe. For this reason, we believe that nasal endoscopy should be included in the diagnostic assessment of pediatric patients with suspected HHT. [ABSTRACT FROM AUTHOR]- Published
- 2021
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14. SAT243 - Elast q - 2D shear wave liver elastography correlates well with vibration controlled transcient elastography in patients with different etiologies of chronic liver disease.
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Bauer, David JM, De Silvestri, Annalisa, Maiocchi, Dr. Laura, Mare, Ruxandra, Sporea, Ioan, Bucsics, Theresa, Ferraioli, Giovanna, and Reiberger, Thomas
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LIVER disease etiology , *SHEAR waves , *ELASTOGRAPHY , *LIVER - Published
- 2020
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15. Lycopene minimizes skin toxicity and oxidative stress in patients treated with panitumumab-containing therapy for metastatic colorectal cancer.
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Moroni, Mauro, Pirovano, Marco, Brugnatelli, Silvia, Zucca, Martina, Morreale, Marco, Rizzo, Vittoria, Ferrari, Alessandra, Tinelli, Carmine, De Silvestri, Annalisa, Meregalli, Maurizio, Giordano, Monica, Artale, Salvatore, Cergnul, Massimiliano, Bollina, Roberto, Rizzo, Mimma, and Pedrazzoli, Paolo
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[Display omitted] • Lycopene reduces ≥ G2 skin toxicity frequency in course of panitumumab therapy. • Lycopene prolongs time to appearance of ≥ G2 skin toxicity (p = 0.0007 logrank test) • Lycopene protects tissues from oxidative stress due to panitumumab therapy. • Lycopene administration saves antioxidants consumption due to panitumumab therapy. Epidermal Growth Factor Receptor (EGFR) inhibition leads to the production of reactive oxygen metabolites causing skin inflammatory reactions. Anti-EGFR therapies are frequently associated with skin toxicities which often cause treatment delay and impairment to patient quality of life. Lycopene is a compound in the carotenoid group with an extreme antioxidant action which accumulates in the skin due to its hydrophobic structure. In a pilot study, we describe lactolycopene effectiveness in reducing skin toxicity and protecting tissues from oxidative stress in patients treated with panitumumab. Despite the limited number of patients, we show an absolute reduction of skin grade 2–3 toxicity in 41% of patients and 46% of panitumumab cumulative cycles in the experimental group versus placebo; lactolycopene administration was able to abolish malondialdehyde (MDA) production, a biomarker used to measure lipid peroxidation in the organism, and replenish antioxidant consumption in the course of anti-EGFR therapy. Trial registration: Clinicaltrials.gov NCT 03,167,268 (Pasto trial). [ABSTRACT FROM AUTHOR]
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- 2021
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16. Efficacy, immunogenicity, and safety of available vaccines in children on biologics: A systematic review and meta-analysis.
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Gertosio, Chiara, Licari, Amelia, De Silvestri, Annalisa, Rebuffi, Chiara, Chiappini, Elena, and Marseglia, Gian Luigi
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VACCINATION of children , *VACCINE safety , *INFLAMMATORY bowel diseases , *IMMUNE response , *INFLUENZA , *JUVENILE idiopathic arthritis , *BIOLOGICALS - Abstract
• More evidence concerning efficacy, immunogenicity, and safety of vaccinations is needed in children with chronic conditions treated with biologics. • Vaccinations should be administered before immunosuppression, if possible. • It is essential to clarify how long vaccine-induced immunity lasts, and whether vaccinations protect immunosuppressive patients from infection. Vaccinations are essential for preventing infectious diseases in children with chronic diseases as they have increased risk of infection from frequent use of biologics. Response to immunizations in this group is not well known. A systematic review was performed to evaluate three primary outcomes: efficacy; immunogenicity; and safety of vaccines in children with chronic conditions treated with biologics. The protocol for our systematic review and meta-analysis was registered and published with PROSPERO. We searched electronic bibliographic databases for studies published from 2009 to 2019, focusing on vaccinations in children with chronic conditions treated with biologics. We retrieved 532 records. Thirty-one full-text articles were selected, and 14 were included in the meta-analysis. No significant publication bias was found. Efficacy : limited data are available regarding the efficacy of vaccination, as most studies have focused on immunogenicity as surrogate outcome for efficacy. Immunogenicity: patients receiving anti-TNF-alpha therapy had a statistically significant risk of poor seroconversion (p = 0.028) and seroprotection by the serotype B influenza vaccine [inflammatory bowel disease (IBD) p = 0.013; juvenile idiopathic arthritis (JIA) p = 0.004]. We found adequate responses with H1N1 and H3N2 serotypes. Few studies existed for pneumococcal, hepatitis A virus, hepatitis B virus, varicella-zoster virus, Measles Mumps Rubella virus, and multiple vaccine administration. Safety: vaccine administration was not associated with serious side effects, but JIA patients on anti-TNF alpha therapy had a statistically significant risk of presenting with myalgia or arthralgia postinfluenza vaccine (p = 0.014). More evidence concerning efficacy, immunogenicity, and safety of vaccinations is needed to guide physicians in the vaccine decision process for this pediatric population. [ABSTRACT FROM AUTHOR]
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- 2022
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17. HLA-A, -B and -C genotyping and haplotype frequencies in a population of 50 healthy unrelated Bone Marrow donors from Eastern Sicily.
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Capittini, Cristina, De Silvestri, Annalisa, Puglisi, Fabrizio, Azzaro, Maria, Toscano, Sebastiana, Rendine, Sabina, Tinelli, Carmine, and Sortino, Grazia
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HLA histocompatibility antigens , *HAPLOTYPES , *TRANSPLANTATION of organs, tissues, etc. , *ALLELES , *EPIDEMICS - Published
- 2017
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18. Perimenstrual Asthma and Premenstrual Disorders in Adolescents with Asthma.
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Calcaterra, Valeria, Farolfi, Andrea, D'Auria, Enza, De Silvestri, Annalisa, Baldassarre, Paola, Ferrara, Francesca, Tiranini, Lara, Ghezzi, Michele, Garancini, Nicolò, Bernardo, Luca, Nappi, Rossella E., and Zuccotti, Gianvincenzo
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PREMENSTRUAL syndrome , *MENSTRUATION disorders , *ASTHMA , *TEENAGERS , *CHRONICALLY ill - Abstract
Asthma is a common chronic disease in pediatric patients, and perimenstrual asthma (PMA), refers to the worsening of asthma symptoms during the perimenstrual period, mainly reported in adult women. However, there is limited information regarding the exacerbation of symptoms in the presence of premenstrual disorders (PMDs) in adolescents. The aim of this pilot observational study was to investigate the frequency and potential association of PMA and PMDs in a clinical sample of adolescents with asthma. The study included 50 adolescents (aged 12-18 years, mean 16.08 ± 2.35) with asthma and at least 2 years of gynecological age. The participants completed the Asthma Control Test (ACT) to assess asthma control (considered pathological if ACT score < 20) and the modified Premenstrual Symptoms Screening Tool for Adolescents (PSST-A) to evaluate PMDs. A total of 75.5% of adolescents reported PMA. The prevalence of premenstrual symptoms did not significantly differ between the PMA and no-PMA group. Among the study sample, 38.7% experienced symptoms indicative of moderate/severe premenstrual syndrome, and 8.1% exhibited symptoms of premenstrual dysphoric disorder. Compared with the no-PMA group, patients with PMA showed a significant impairment in daily and home activities (P =.03 and P =.02, respectively) and exhibited a difference in the frequency of asthma symptoms (P <.001) and medication use (P ≤.01). Perimenstrual worsening of asthma symptoms may be common in adolescents with a severe form of asthma. Prospective data collection through menstrual diaries is necessary to further explore the association between PMA and PMDs. Identifying early risk factors for PMA could facilitate the development of preventive strategies and early interventions for adolescents with asthma. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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19. Catabolism of C1 inhibitor influences the response to replacement therapy in hereditary angioedema.
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Cicardi, Marco, Zanichelli, Andrea, Suffritti, Chiara, Wu, Maddalena A., Machnig, Thomas, De Silvestri, Annalisa, Regazzi, Mario, and Tinelli, Carmine
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- 2017
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20. Brief group cognitive behavioral treatment in addition to prescriptive diet versus standard care in obese and overweight patients. A randomized controlled trial.
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Muggia, Chiara, Falchi, Anna Giulia, Michelini, Ilaria, Montagna, Elisabetta, De Silvestri, Annalisa, Grecchi, Ilaria, Brondino, Natascia, and Tinelli, Carmine
- Abstract
Summary: Background and aims: The beneficial effect of cognitive therapy was found particularly in eating disorders, but, to date, it has rarely been studied in obese patients without eating disorders. The aim of this pragmatic randomized clinical trial was to evaluate the effectiveness of a novel brief group cognitive behavioral treatment (CBT), accepted and performed in clinical practice, in addition to a prescriptive diet with respect to the prescriptive diet alone (standard care), in obese and overweight outpatients without eating disorders. Methods: One hundred sixty three patients [44 men and 119 women; 45 ± 11 yr; mean body mass index (BMI) of 32 ± 4 kg/m
2 ] aged 18–65 years who were from overweight (BMI between 25 and 29.9) to 2° class obese (BMI between 35 and 39.9 kg/m2 ) were followed for 12 months in a public obesity ambulatory. The study was based on a nutritional intervention lasting for six months. Weight loss was obtained with a hypo caloric balanced diet. Standard care consisted in a low-calorie diet, and a control visit every three months. Group CBT patients received the same diet but in addition they attended a series of seven subsequent meetings divided in small groups. Primary outcome is defined as the percentage of patients in each group achieving a 10% reduction of body weight at 12 months in comparison with baseline value. After randomization, at baseline patients underwent laboratory tests, bioelectrical impedance analysis, ECG and psychometric tests, and they were followed-up at six and 12 months. Results: The average weight loss obtained at six and 12 months was respectively 6.0% and 7.44% for all patients, and this is in accordance with other similar studies. The primary outcome has been reached by 19 patients (24%) out of 78 who concluded the follow-up. Considering an ITT univariate analysis, the primary outcome was independent from treatment arm (OR .854, CI .39–1.871, p = 0.633) and the two treatments were substantially similar. Metabolic parameters (glucose levels, lipid profile, blood pressure), as expected, ameliorated in both groups during follow-up. The only independent predictor of successful weight loss was baseline glucose levels (OR 1.05, CI 1.009–1.09, p = 0.04), thus representing a higher risk of disease perceived by patients. Conclusion: A brief group CBT, when added to standard care, was not superior to standard care alone in obese patients. The peculiar course of CBT planned only in the first six months, as well as the absence of a pure cognitive analysis may have impacted on the CBT success lower than expected. Further studies are needed in order to determine if longer intervention may be effective and feasible in a real-life primary care setting. Clinical trials registration: Clinical trial.gov (n° NCT01686854). [Copyright &y& Elsevier]- Published
- 2014
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21. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.
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Larizza, Daniela, Albanesi, Michela, De Silvestri, Annalisa, Accordino, Giulia, Brazzelli, Valeria, Maffè, Gabriella Carnevale, and Calcaterra, Valeria
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TURNER'S syndrome , *CANCER risk factors , *FOLLOW-up studies (Medicine) , *X chromosome , *HORMONE therapy , *DIAGNOSIS - Abstract
Aim of the study Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. Methods We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. Results A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. Conclusion In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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22. Serum and breastmilk SARS-CoV-2 specific antibodies following BNT162b2 vaccine: prolonged protection from SARS-CoV-2 in newborns and older children.
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Ricciardi, Alessandra, Zelini, Paola, Cassaniti, Irene, Avanzini, Maria Antonietta, Colaneri, Marta, De Silvestri, Annalisa, Baldanti, Fausto, and Bruno, Raffaele
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BREAST milk , *COVID-19 vaccines , *IMMUNOGLOBULIN G , *IMMUNOGLOBULINS , *SARS-CoV-2 - Abstract
• Vaccination is the best strategy against SARS-CoV-2 infection. • COVID-19 in newborns may be more serious than in older children. • The immune response of lactating women after receiving the BNT162b2 vaccine was measured. • Serum and breastmilk contain specific antibodies 6 months after vaccination. Vaccination is the best strategy against COVID-19. We aimed to determine antibodies against SARS-CoV-2 in breastmilk and serum of mothers vaccinated with the mRNA vaccine. This prospective study included 18 lactating women vaccinated with the BNT162b2 vaccine. Serum and breastmilk were collected before the first dose (T0), at the second dose (T1), 3 weeks after the second dose (T2), and 6 months after the first dose (T3). Serum anti-SARS-CoV-2 Spike (S) Immunoglobulin G (IgG) and Immunoglobulin A (IgA) were measured using a semi-quantitative enzyme-linked immunosorbent assay (ELISA) and secretory antibody (s) IgG and IgA in breastmilk using quantitative analysis. We detected serum anti-S IgG and IgA in all women after vaccination. Specific IgG and IgA were higher at T1, T2, and T3 compared with T0 (P <0.0001). Higher antibody levels were observed at T2 and lower values at T3 versus T2 (P = 0.007). After 6 months, all patients had serum IgG, but three of 18 (16%) had serum IgA. In breastmilk, sIgA was present at T1 and T2 and decreased after 6 months at T3 (P = 0.002). Breastmilk sIgG levels increased at T1 and T2 and peaked at T3 (P = 0.008). Secretory antibodies were transmitted through breastmilk until 6 months after anti-COVID-19 mRNA vaccination. Protection of the newborn through breastfeeding needs to be addressed. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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23. In linezolid underexposure, pharmacogenetics matters: The role of CYP3A5.
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Cheli, Stefania, Fusi, Marta, De Silvestri, Annalisa, Bonini, Igor, Clementi, Emilio, Cattaneo, Dario, Montrasio, Cristina, and Baldelli, Sara
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LINEZOLID , *PHARMACOGENOMICS , *GENETIC polymorphisms , *DRUG monitoring , *CYTOCHROME P-450 CYP3A , *P-glycoprotein genetics - Abstract
The exposure to linezolid is characterized by a large inter-individual variability; age, renal dysfunction and body weight explain this variability only to a limited extent and a considerable portion of it remains unexplained; therefore, we decided to investigate the role of individual genetic background focusing in particular on the risk of linezolid underexposure. 191 patients in therapy with linezolid at the standard dose of 600 mg twice daily were considered. Linezolid plasma concentration was determined at the steady state and classified as "below", "within" or "above" reference range. Genetic polymorphisms for ATP Binding Cassette Subfamily B Member 1 (ABCB1), Cytochrome P450 (CYP) enzymes CYP3A4 and CYP3A5, and Cytochrome P450 Oxidoreductase (POR) were investigated. Age significantly correlated with drug exposure, and patients CYP3A5 expressers (GA and AA) were found at high risk to be underexposed to the drug when treated at standard dose. This association was confirmed even after correction with age. No association was found with ABCB1 polymorphism. Our data suggest that CYP3A5 polymorphisms might significantly affect linezolid disposition, putting patients at higher risk to be underexposed, while P-glycoprotein polymorphism seem not to play any role. [Display omitted] • The pharmacokinetics of linezolid is characterized by a large inter-individual variability. • Patients' age resulted significantly correlated with linezolid trough concentrations. • CYP3A5 expressers were at high risk to be underexposed to linezolid when treated with conventional drug doses. • No association was found between ABCB1 polymorphisms and linezolid trough concentrations. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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24. A proposal for a semiquantitative scoring system for lymphedema using Non-contrast Magnetic Resonance Lymphography (NMRL): Reproducibility among readers and correlation with clinical grading.
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Franconeri, Andrea, Ballati, Francesco, Panzuto, Fabio, Raciti, Maria Vittoria, Smedile, Antonella, Maggi, Alessia, Asteggiano, Carlo, Esposito, Marcello, Stoppa, Davide, Lungarotti, Luca, Bortolotto, Chandra, Giardini, Denisa, De Silvestri, Annalisa, and Calliada, Fabrizio
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COHEN'S kappa coefficient (Statistics) , *MAGNETIC resonance , *GLEASON grading system , *INTRACLASS correlation , *LYMPHEDEMA - Abstract
To assess the ability and reproducibility of Non-contrast Magnetic Resonance Lymphography (NMRL) in detecting and quantify lymphedema, using a semiquantitative scoring system. This is a monocentric retrospective study of 134 consecutive patients with a clinical diagnosis of limb lymphedema who performed a Non-contrast Magnetic Resonance Lymphography (NMRL) at our Institution between November 2014 and February 2017. Lymphedema was classified based both on clinical and radiologic evaluation. An NMRL total score was obtained for each limb's segment and compared to the clinical grade, used as reference standard. NMRL intra-observer, inter-observer variability and intraclass correlation were calculated. NMRL sensitivity, specificity, and accuracy in identifying lymphedema were provided. Based on score distribution an NMRL four-stage system was developed. NMRL showed 92% sensitivity, 77% specificity and 82% accuracy in identifying lymphedema. An almost perfect agreement was obtained by expert operators, while substantial agreement was obtained by non-expert operators. Substantial agreement resulted also for the inter-observer variability (Cohen's Kappa K = 0.73, CI 95% [0.69–0.78]). The intra-class correlation showed an almost perfect relationship both by expert and non-expert operators. Excellent correlation between clinical grade and NMRL score and between clinical grade and NMRL stage were found for each segment. NMRL is a confident and reproducible exam with high sensitivity, good specificity and high accuracy in lymphedema detection; the semiquantitative NMRL score resulted a reliable and reproducible tool able to quantify lymphedema severity. • NRML strength and reproducibility is confirmed by high K values of both intra- and inter-observer variation; • NMRL confirmed presence of lymphedema in 92% of clinical cases and missed only 8% of them; • Of 16 patients with clinical unilateral lymphedema, NMRL identified mild lymph stagnation in the contralateral limb; • Clinical grading is comparable to NMRL scoring system (R > 0.8791; R < 0.9483) and staging system (K > 0.660; K < 0.810) • Strength and reproducibility of NMRL scoring system is confirmed by perfect relationship in the intraclass correlation. [ABSTRACT FROM AUTHOR]
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- 2020
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25. An historical approach to the genetic distribution of KIR and HLA ligands in Eastern Sicilians compared to modern descendants of their invaders.
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Capittini, Cristina, Messina, Francesco, Puglisi, Fabrizio, Azzaro, Maria, Toscano, Sebastiana, De Silvestri, Annalisa, Tinelli, Carmine, and Sortino, Grazia
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KILLER cells , *IMMUNOGLOBULIN receptors , *SICILIANS , *MULTIPLE correspondence analysis (Statistics) , *MITOCHONDRIAL DNA - Abstract
A geographical stratification of Killer Immunoglobulin-like Receptors (KIR) has been reported worldwide. We first analyzed the distribution of 15 KIR genes in a sample of 50 East-Sicilians (ES). We used a Principal Component Analysis (PCA) to compare the KIR genetic content among ES and 10 modern populations who are descendants of the ancient invaders of Sicily: Spanish, French, Norwegians, Swedes, Finns, Tunisians, Moroccans, Arabs, Greeks, Turks. We also included a sample of Sardinians, and Senegalese (as outlier group). Then, we also compared the HLA-A, HLA-B and HLA-C allelic frequencies among ES and the same populations investigated for KIR. As to HLA-A and HLA-B polymorphisms, ES are close to Greek population who invaded the island for long time until 827 CE; while HLA-C and KIR distribution in ES are close to Spanish population that invaded Sicily (and Sardinia) starting from 1283. As to KIR, ES are close to Spanish and Sardinians. The immunogenetic fingerprint of ES may be the finely balanced result of the invasions that overwhelmed Sicily over the centuries. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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26. Preliminary assessment of the diagnostic performances of a new rapid diagnostic test for the serodiagnosis of human cystic echinococcosis.
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Vola, Ambra, Tamarozzi, Francesca, Noordin, Rahmah, Yunus, Muhammad Hafiznur, Khanbabaie, Sam, De Silvestri, Annalisa, Brunetti, Enrico, and Mariconti, Mara
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ROUTINE diagnostic tests , *DIAGNOSIS of Echinococcosis , *ULTRASONIC imaging , *ECHINOCOCCOSIS , *SEROLOGY - Abstract
Rapid diagnostic tests for cystic echinococcosis (CE) are convenient to support ultrasound diagnosis in uncertain cases, especially in resource-limited settings. We found comparable diagnostic performances of the experimental Hyd Rapid Test and the commercial VIRapid HYDATIDOSIS Test, used in our diagnostic laboratory, using samples from well-characterized hepatic CE cases. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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27. Efficacy of low-dose rituximab for the treatment of mixed cryoglobulinemia vasculitis: Phase II clinical trial and systematic review.
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Visentini, Marcella, Tinelli, Carmine, Colantuono, Stefania, Monti, Monica, Ludovisi, Serena, Gragnani, Laura, Mitrevski, Milica, Ranieri, Jessica, Fognani, Elisa, Piluso, Alessia, Granata, Massimo, De Silvestri, Annalisa, Scotti, Valeria, Mondelli, Mario U., Zignego, Anna Linda, Fiorilli, Massimo, and Casato, Milvia
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RITUXIMAB , *DRUG efficacy , *CRYOGLOBULINEMIA , *VASCULITIS treatment , *CLINICAL trials , *SYSTEMATIC reviews , *HEALTH outcome assessment , *ADVERSE health care events , *THERAPEUTICS - Abstract
Objective To evaluate whether rituximab at a low dose of 250 mg/m 2 × 2 may be as effective as at higher dosages, most commonly 375 mg/m 2 × 4, used in previous studies on the treatment of patients with refractory mixed cryoglobulinemia (MC) vasculitis associated with hepatitis C virus (HCV) infection. Methods We conducted a phase 2, single-arm two-stage trial (EUDRACT n. 2008-000086-38) of low-dose rituximab in 52 patients with HCV-associated MC who were ineligible/intolerant or non-responder to antiviral therapy. The primary outcomes were response of vasculitis evaluated by the Birmingham Vasculitis Activity Score (BVAS) at months 3, 6 and 12, rate of relapses and time to relapse, and rate of adverse events. Our data were compared with those reported in 19 published studies selected among 291 reviewed in a literature search. Results The cumulative response rate (complete and partial) at month 3 was 81% in our patients, and 86% in 208 patients from studies using high-dose rituximab. The relapse rate and median time to relapse were, respectively, 41% and 6 months in our study, and 32% and 7 months in high-dose studies. Treatment-related adverse events were 11.5% in our study and 19.9% in high-dose studies. None of these differences was statistically significant. Conclusion Rituximab at a low dosage of 250 mg/m 2 × 2 is as effective as at higher dosages for treating MC vasculitis. This low-dose regimen may improve the cost/benefit profile of rituximab therapy for MC. [ABSTRACT FROM AUTHOR]
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- 2015
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28. Use of IVUS guided coronary stenting with drug eluting stent: A systematic review and meta-analysis of randomized controlled clinical trials and high quality observational studies.
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Klersy, Catherine, Ferlini, Marco, Raisaro, Arturo, Scotti, Valeria, Balduini, Anna, Curti, Moreno, Bramucci, Ezio, and De Silvestri, Annalisa
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THROMBOSIS risk factors , *CORONARY artery stenosis , *DRUG-eluting stents , *SYSTEMATIC reviews , *META-analysis , *RANDOMIZED controlled trials - Abstract
Abstract: Background/objectives: Long term safety of DES, particularly regarding thrombosis is of concern. The hypothesized underlying mechanisms (stent underexpansion, malapposition) could be prevented by IVUS guidance. Aim of this meta-analysis of randomized controlled clinical trials (RCT) and high quality observational cohort studies (HQ-OBS) is to quantify the potential clinical benefit of intravascular ultrasound (IVUS) guidance in drug-eluting stents (DES) implantation. Methods: We performed an extensive literature search for full-text articles published in 2003–2013. The primary outcome was the rate of major adverse cardiac events (MACE) in RCT and HQ-OBS; secondary outcomes were death, myocardial infarction (MI), revascularization, thrombosis and post-procedural minimum lumen diameter (MLD). Fixed/random effect relative risks (RRs) or standardized mean difference (SMD) and 95% confidence interval (95% CI) were computed for the meta-analysis. Results: Thirty-four articles were retrieved from 268 found; of these 3 were RCT and 9 were HQ-OBS; 18,707 patients were enrolled, 1037 in RCT and 17,670 in OBS. Median follow-up was 20months. IVUS guidance was associated with a significantly lower rate of MACE (RR=0.80, 95% CI 0.71–0.89, p<0.001), death (RR=0.60, 95% CI 0.48–0.74, p<0.001), MI (RR=0.59, 95% CI 0.44–0.80, p=0.001) and thrombosis (RR=0.50, 95% CI 0.32–0.80, p=0.007) and larger MLD (SMD=0.15, 95% CI 0.03 to 0.27, p=0.014), but not of revascularization (RR=0.95, 95% CI 0.82–1.09, p=0.75). Conclusions: In this meta-analysis, IVUS guidance in DES implantation appears to reduce MACE, mortality and MI, possibly by reducing thrombosis rather than restenosis rate. Patients at high risk for thrombosis might be identified as the best candidate for IVUS guidance. [Copyright &y& Elsevier]
- Published
- 2013
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29. Genomic alterations in human umbilical cord–derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach.
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BORGHESI, ALESSANDRO, ANTONIETTA AVANZINI, MARIA, NOVARA, FRANCESCA, MANTELLI, MELISSA, LENTA, ELISA, ACHILLE, VALENTINA, MARIA CERBO, ROSA, TZIALLA, CHRYSSOULA, LONGO, STEFANIA, DE SILVESTRI, ANNALISA, ZIMMERMANN, LUG J. I., MANZONI, PAOLO, ZECCA, MARCO, SPINILLO, ARSENIO, MACCARIO, RITA, ZUFFARDI, ORSETTA, and STRONATI, MAURO
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UMBILICAL cord , *GENOMICS , *CELLULAR therapy , *COMPARATIVE genomic hybridization , *MESENCHYMAL stem cells , *STROMAL cells - Abstract
Background aims. The umbilical cord (UC) is a promising source of mesenchymal stromal cells (MS Cs). UC-MSCs display very similar in vitro characteristics to bone marrow-MSCs and could represent a valuable alternative for cell-based therapies. However, it is still unclear whether UC-MSCs are prone or not to the acquisition of genomic imbalances during in vitro expansion. Methods. With the use of array-comparative genomic hybridization, we compared copy number variations of early (P2-P3) and late (>P5) passages of in vitro-expanded UC-MSCs. Results. In two of 11 long-term UC-MSCs cultures, we observed the appearance of clones carrying genomic imbalances, which generated genetic mosaicism at intermediate passages. Although still able to reach the senescence phase, the cells carrying the genomic imbalance acquired a proliferative advantage, as demonstrated by the increase in frequency during long-term culture. Conclusions. Altogether, our results suggest that UC-MSC-based clinical protocols should be designed with caution; their clinical use should be preceded by array-comparative genomic hybridization screening for the acquisition of genomic imbalances during in vitro expansion. [ABSTRACT FROM AUTHOR]
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- 2013
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30. BNP concentrations and cardiovascular adaptation in preterm and fullterm newborn infants
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Mannarino, Savina, Garofoli, Francesca, Mongini, Elisa, Cerbo, Rosa Maria, Codazzi, Alessia Claudia, Tzialla, Chryssoula, Mazzucchelli, Iolanda, Perotti, Gianfranco, Tinelli, Carmine, De Silvestri, Annalisa, Manzoni, Paolo, and Stronati, Mauro
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ATRIAL natriuretic peptides , *CARDIOVASCULAR diseases , *PHYSIOLOGICAL adaptation , *NEONATAL diseases , *ECHOCARDIOGRAPHY , *BRONCHOPULMONARY dysplasia , *FETAL growth retardation , *PATENT ductus arteriosus - Abstract
Abstract: To evaluate and compare cardiovascular adaptation of 36 preterm and 34 fullterm newborns, we analyzed BNP concentration and echocardiographic parameters at day 3 of life and at day 28 (±2). On day 3 BNP concentrations (pg/ml) resulted higher in PDA preterm group (n =11; 125, IQR 56.1–301) than preterm without PDA (n =25; 25.5 IQR 10.9–49; p <0.001) than fullterms (n =34; 55.1 IQR 23.6–82.7; p =0.013). No difference resulted in all groups at 28days (respectively: 12.7 IQR 4.9–23.8; 15.6 IQR 10–22; 8.9 IQR 5.6–20.6). Because of the newborns'' growth, all echocardiographic parameters increased with linear relationship with body weight. On day 3 BNP concentration and echocardiographic parameters were not correlated besides LA/AO in preterms with PDA (p =0.0015). On day 28, BNP was significantly correlated with mVTI (p =0.019), M (p =0.007) and LA (p =0.005) in fullterms and only with LA (p =0.007) in preterms. In conclusion, BNP concentrations and echocardiographic measures confirm that preterm, and fullterm newborns conduct themselves in a similar manner during the transition from foetal to post-natal circulation, reaching low levels at a month of life. The presence of PDA during first days of life has no significant impact in this adaptation. LA is the echocardiographic parameter mostly related to BNP concentration in the newborns. [Copyright &y& Elsevier]
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- 2010
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31. Primary myelofibrosis: rs2010963 VEGFA polymorphism favors a prefibrotic phenotype and is associated with higher risk of thrombosis.
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Villani, Laura, Rosti, Vittorio, Massa, Margherita, Campanelli, Rita, Catarsi, Paolo, Carolei, Adriana, Abbà, Carlotta, De Silvestri, Annalisa, Gale, Robert Peter, and Barosi, Giovanni
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PHENOTYPES , *MYELOFIBROSIS , *THROMBOSIS - Published
- 2021
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32. A Family Based Linkage Analysis of HLA and 5-HTTLPR Gene Polymorphisms in Sardinian Children with Autism Spectrum Disorder
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Guerini, Franca R., Manca, Salvatorica, Sotgiu, Stefano, Tremolada, Sara, Zanzottera, Milena, Agliardi, Cristina, Zanetta, Lorenzo, Saresella, Marina, Mancuso, Roberta, De Silvestri, Annalisa, Fois, Maria Laura, Arru, Giannina, and Ferrante, Pasquale
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AUTISM , *LEUCOCYTES , *ANTIGENS , *SEROTONIN , *HETEROGENEITY , *GENETIC polymorphisms , *SARDINIANS - Abstract
Abstract: Autism spectrum disorders (ASD) are characterized by a broad range in clinical presentation. Although a definite genetic cause has not yet been fully demonstrated, family based studies suggest that a multigenic pattern may be responsible for susceptibility, but most results are conflicting and have yet to be replicated. The purpose of this investigation was to analyze the linkage of the human leukocyte antigen (HLA) and the human serotonin transporter coding (5-HTTLPR) genes with ASD in a group of 37 families of Sardinian ethnicity in insular Italy. In 50% of these families, ASD is linked to HLA, and in the other 50% it is linked to 5-HTTLPR polymorphic genes; in other words, linkage to one or the other was evident in all cases. Despite a very homogenous genetic pattern being generally reported for Sardinians, the linkage observed with HLA and 5-HTTLPR genetic regions indicated a statistically defined heterogeneity (p = 0.002). No allelic HLA or 5-HTTLPR polymorphisms were specifically associated with ASD, suggesting these loci as markers of other genes mapped in their close proximity that may be more directly involved and thus may merit further analytical studies. [Copyright &y& Elsevier]
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- 2006
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33. Matrix metalloproteinase 2 may be a marker of microangiopathy in children and adolescents with type 1 diabetes mellitus
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Derosa, Giuseppe, Avanzini, Maria A., Geroldi, Diego, Fogari, Roberto, Lorini, Renata, De Silvestri, Annalisa, Tinelli, Carmine, Rondini, Giorgio, and d’Annunzio, Giuseppe
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DIABETES , *METALLOPROTEINASES , *EXTRACELLULAR matrix , *ENDOCRINE diseases - Abstract
Abstract: Matrix metalloproteinases (MMPs) 2 and 9 are responsible for extracellular matrix breakdown and their abnormal circulating levels may pre-date clinical evidence of diabetic angiopathy. We detected by ELISA, plasma MMP-2 and MMP-9 levels and associated activity in 25 children and adolescents with T1DM. Thirteen male and 12 female patients were evaluated at the clinical diagnosis and onset of T1DM and again at a 5-year follow-up. Twelve patients had developed microangiopathic complications at the follow-up evaluation. MMP-2 and MMP-9 levels and activity were detected in samples obtained at T1DM diagnosis and at the 5-year follow-up. As controls, 19 healthy subjects who were the same age as the patients were also evaluated at baseline and again after 5 years. MMP-2 levels and activity were significantly higher in the patients than in the controls at disease onset. This was particularly evident when patients who developed microangiopathic complications were compared to controls and patients without complications. At the 5-year follow-up, a significant increase in MMP-2 levels and a significant decrease in MMP-2 activity were found only in the control group compared to the baseline levels. MMP-2 levels and activity were higher in patients with microangiopathy. MMP-9 levels and activity were increased in all groups compared to baseline levels. MMP-9 levels were lower in patients with microangiopathy compared to controls, but no difference was found between the two patient groups. It is well known that MMP-9 is an index of the severity and stability of macroangiopathy while our results allow us to postulate that MMP-2 may be a marker of microangiopathy. [Copyright &y& Elsevier]
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- 2005
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34. Codon 72 polymorphism of P53 gene does not affect the risk of cirrhosis and hepatocarcinoma in HCV-infected patients
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Leveri, Michela, Gritti, Chiara, Rossi, Laura, Zavaglia, Claudio, Civardi, Emilio, Mondelli, Mario U., De Silvestri, Annalisa, and M. Silini, Enrico
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HEPATITIS C , *CANCER , *FLAVIVIRUSES , *GENETIC toxicology - Abstract
Chronic hepatitis C virus (HCV) infection is the most frequent cause of progressive liver disease and liver cancer in the West. The p53 tumor supressor gene is known to play an important role in carcinogenesis of different tissues being involved in gene transcription, DNA synthesis and repair and somatic mutations of p53 are common in primary liver cancer.The p53 gene displays a common genetic Arg/Pro polymorphism at codon 72 with functional significance, that has been investigated as risk factor in several cancer models. We analyzed p53 codon 72 polymorphism in a group of 340 HCV-infected subjects at different stages of disease, including 84 hepatocellular carcinoma patients.No association between codon 72 genotypes and disease severity or liver cancer was observed. [Copyright &y& Elsevier]
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- 2004
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35. Adenoidectomy: Anatomical variables as predictive factors of intraoperative adenoid residues.
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Pagella, Fabio, Lizzio, Roberta, Pusateri, Alessandro, Ugolini, Sara, Maiorano, Eugenia, Mirabella, Rosolino, De Silvestri, Annalisa, Tinelli, Guido, and Matti, Elina
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ADENOIDECTOMY , *ADENOIDS , *REOPERATION , *SOFT palate , *OPERATIVE surgery , *ACQUISITION of data - Abstract
Adenoid hypertrophy is a common cause of upper airway obstruction in children. However, after adenoidectomy, nasal obstructive symptoms may persist or recur, requiring surgical revision. The aim of this study is to evaluate if individual patient features can influence the efficacy of the traditional technique. A retrospective observational study was conducted by recruiting patients from candidates for adenoidectomy. All children underwent conventional transoral curettage adenoidectomy with endoscopic control at the end of procedure, and in presence of adenoid residues, a concomitant revision adenoidectomy was performed. For each patient, the following data were collected: age, sex, weight, height, length of the soft palate and surgical technique used. In 18% of patients (113/612), the most critical areas of the nasopharynx were not reached by standard surgery, making a complete adenoidectomy difficult. In this group, the average length of the soft palate was 3.1 cm, 5 mm more than the average of the sample, and 6 mm more than the average length of patients undergoing standard surgery alone (p < 0.001). Our study confirms the hypothesis that a greater length of the soft palate conditions the results of the intervention. The length of the soft palate can be considered an intraoperative criterion to select the cases in which perform endoscopic control after the standard procedure. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
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