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1,320 results on '"Consolini R."'

52. Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.

Author

Costagliola G, Peroni DG, and Consolini R

Abstract

Patients with inborn errors of immunity (IEI) are susceptible to developing a severe infection-related clinical phenotype, but the clinical consequences of immune dysregulation, expressed with autoimmunity, atopy, and lymphoproliferation could represent the first sign in a significant percentage of patients. Therefore, during the diagnostic work-up patients with IEI are frequently addressed to different specialists, including endocrinologists, rheumatologists, and allergologists, often resulting in a delayed diagnosis. In this paper, the most relevant non-infectious manifestations of IEI are discussed. Particularly, we will focus on the potential presentation of IEI with autoimmune cytopenia, non-malignant lymphoproliferation, severe eczema or erythroderma, autoimmune endocrinopathy, enteropathy, and rheumatologic manifestations, including vasculitis and systemic lupus erythematosus. This paper aims to identify new warning signs to suspect IEI and help in the identification of patients presenting with atypical/non-infectious manifestations., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Costagliola, Peroni and Consolini.)

Published
2022
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53. Case Report: MIS-C With Prominent Hepatic and Pancreatic Involvement in a Vaccinated Adolescent - A Critical Reasoning.

Author

Consolini R, Costagliola G, Spada E, Colombatto P, Orsini A, Bonuccelli A, Brunetto MR, and Peroni DG

Abstract

Multisystem inflammatory syndrome in children (MIS-C) is a pathologic condition that has emerged during the coronavirus disease 2019 (COVID-19) pandemic. Although the epidemiological evidence of association between MIS-C and SARS-CoV-2 infection has been demonstrated, its pathogenic mechanism is still undefined. We describe the case of a 17-year old female, previously vaccinated against SARS-CoV-2, presenting with a history of asthenia, fever, cough, anorexia, abdominal pain, and vomiting. During the hospitalization, the patient developed bilateral conjunctivitis, hand vasculitis, cutaneous rash, and multiple pulmonary nodules, following by hepatitis and pancreatitis. As she reported a high-risk contact with a SARS-CoV-2 positive patient 10 days before admission, the epidemiological link and the clinical picture characterized by multi-system organ disfunction and inflammatory biomarkers increase led us to the diagnosis of MIS-C. Therefore, the patient was treated with intravenous immunoglobulin and corticosteroids, resulting in a rapid resolution of fever, cutaneous, and pulmonary involvement, while the recovery of hepatitis and pancreatitis was observed in the following weeks. This case leads to the discussion on whether SARS-CoV-2 immunized children and adolescents should be considered at risk of developing MIS-C and on their possible presentation with non-classic clinical features. Additionally, due to the increasing number of vaccinated children and adolescents, the issues resulting either from the diagnostic suspect of MIS-C or from the consequent need of an early therapeutic approach are discussed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Consolini, Costagliola, Spada, Colombatto, Orsini, Bonuccelli, Brunetto and Peroni.)

Published
2022
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54. Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.

Author

Cirillo E, Polizzi A, Soresina A, Prencipe R, Giardino G, Cancrini C, Finocchi A, Rivalta B, Dellepiane RM, Baselli LA, Montin D, Trizzino A, Consolini R, Azzari C, Ricci S, Lodi L, Quinti I, Milito C, Leonardi L, Duse M, Carrabba M, Fabio G, Bertolini P, Coccia P, D'Alba I, Pession A, Conti F, Zecca M, Lunardi C, Bianco ML, Presti S, Sciuto L, Micheli R, Bruzzese D, Lougaris V, Badolato R, Plebani A, Chessa L, and Pignata C

Subjects
Ataxia Telangiectasia Mutated Proteins genetics, Humans, Mutation genetics, Retrospective Studies, T-Lymphocytes, Ataxia Telangiectasia diagnosis, Ataxia Telangiectasia genetics, Lymphopenia
Abstract

Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better define the immunological profile over time, the clinical immune-related manifestations at diagnosis and during follow-up, and to attempt a genotype-phenotype correlation of an Italian cohort of AT patients. Retrospective data of 69 AT patients diagnosed between December 1984 and November 2019 were collected from the database of the Italian Primary Immunodeficiency Network. Patients were classified at diagnosis as lymphopenic (Group A) or non-lymphopenic (Group B). Fifty eight out of 69 AT patients (84%) were genetically characterized and distinguished according to the type of mutations in truncating/truncating (TT; 27 patients), non-truncating (NT)/T (28 patients), and NT/NT (5 patients). In 3 patients, only one mutation was detected. Data on age at onset and at diagnosis, cellular and humoral compartment at diagnosis and follow-up, infectious diseases, signs of immune dysregulation, cancer, and survival were analyzed and compared to the genotype. Lymphopenia at diagnosis was related per se to earlier age at onset. Progressive reduction of cellular compartment occurred during the follow-up with a gradual reduction of T and B cell number. Most patients of Group A carried bi-allelic truncating mutations, had a more severe B cell lymphopenia, and a reduced life expectancy. A trend to higher frequency of interstitial lung disease, immune dysregulation, and malignancy was noted in Group B patients. Lymphopenia at the onset and the T/T genotype are associated with a worst clinical course. Several mechanisms may underlie the premature and progressive immune decline in AT subjects., (© 2022. The Author(s).)

Published
2022
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55. OBSIDIAN - real-world evidence of originator to biosimilar drug switch in juvenile idiopathic arthritis.

Author

Maccora I, Lombardi N, Crescioli G, Bettiol A, Bonaiuti R, Pagnini I, Maniscalco V, Marrani E, Mastrolia MV, Ravaldi C, Consolini R, Cattalini M, Vannacci A, and Simonini G

Subjects
Adalimumab adverse effects, Child, Cohort Studies, Drug Substitution methods, Etanercept adverse effects, Female, Glass, Humans, Prospective Studies, Treatment Outcome, Antirheumatic Agents adverse effects, Arthritis, Juvenile drug therapy, Biosimilar Pharmaceuticals adverse effects
Abstract

Objectives: Limited data about use of biosimilars (BIOs) are available in children with JIA. This study therefore aimed to evaluate long-term efficacy and safety of switching from etanercept (ETA) and adalimumab (ADA) originators to their biosimilars (BIOs), in children with JIA, in a real-world setting., Methods: This is a retro-prospective non-interventional multicentre Italian comparative cohort study. Medical charts of JIA children treated with biosimilars of ETA or ADA were included. Efficacy and safety of TNF-inhibitors therapy was evaluated at last follow-up during originator and at 3, 6 and 12 months following the switch to biosimilar., Results: A total of 59 children (42 female, median age at onset 88 months) were treated with biosimilar of ETA (21) and ADA (38). Forty-five switched from the originator to the BIO (17 ETA, 28 ADA). At time of switch, 12/17 patients on ETA and 18/28 on ADA were in remission. No significant difference has been found at 3, 6 and 12 months after the switch. Ten patients discontinued biosimilars due to disease remission (4 ETA, 3 ADA), family willing (1 ETA), occurrence of burning at injection site (1 ETA) and persistent activity (1 ADA). No statistically significant difference was observed between originator and BIOs, nor between originator and BIOs, and between ADA and ETA in time to disease remission achievement, time to relapse and number of patients who experienced adverse event (AE)., Conclusion: Our real-life results seem to confirm the efficacy and safety profile of switching from originator of ADA and ETA to their respective BIOs, also in paediatric patients with JIA., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2022
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56. Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.

Author

Alberio AMQ, Legitimo A, Bertini V, Baroncelli GI, Costagliola G, Valetto A, and Consolini R

Abstract

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized by a broad and heterogeneous clinical presentation associated with various degrees of T-cell deficiency. We report the clinical, immunologic, and genetic findings of a cohort of eight patients presenting with a clinical phenotype that is highly suggestive of this syndrome but without the 22q11.2 deletion. The cardinal features of 22q11.2DS, such as congenital heart defects, hypoparathyroidism, and facial dysmorphisms, were observed in the majority of the patient cohort. The unusual features are described in detail. The immunologic assessment showed various degrees of immunodeficiency of the T-cell compartment, notably a reduction in the thymic output. Half of the patient cohort exhibited a reduction in total dendritic cells. Array comparative genomic hybridization (CGH) revealed six patients harboring copy number variations (CNVs) never reported in normal subjects. The gene content of these CNVs was carefully analyzed to understand the mechanisms leading to 22q11.2DS phenocopies. According to these results, we suggested that array-CGH should be used as a first-tier tool for patients resembling 22q11.2DS.

Published
2022
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57. Correction to: The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR) (Rheumatology International, (2018), 38, S1, (251-258), 10.1007/s00296-018-3960-1)

Author

Consolaro, A., Bovis, F., Pistorio, A., Cimaz, R., De Benedetti, F., Miniaci, A., Corona, F., Gerloni, V., Martino, S., Pastore, S., Barone, P., Pieropan, S., Cortis, E., Podda, R. A., Gallizzi, R., Civino, A., La Torre, F., Rigante, Donato, Consolini, R., Maggio, M. C., Magni-Manzoni, S., Perfetti, F., Filocamo, G., Toppino, C., Licciardi, F., Garrone, M., Scala, S., Patrone, E., Tonelli, M., Tani, D., Ravelli, A., Martini, A., and Ruperto, N.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Juvenile idiopathic arthritis
Published
2018

59. Therapeutic aspects of Sydenham's Chorea: an update.

Author

Depietri G, Carli N, Sica A, Oliviero D, Costagliola G, Striano P, Bonuccelli A, Frisone F, Peroni D, Consolini R, Foiadelli T, and Orsini A

Subjects
Humans, Knowledge, Uncertainty, Writing, Chorea diagnosis, Chorea drug therapy, Chorea etiology, Rheumatic Fever complications, Rheumatic Fever diagnosis, Rheumatic Fever therapy
Abstract

Sydenham's Chorea (SC) is a hyperkinetic movement disorder associated with neuropsychiatric manifestations. It is believed to be caused by the autoimmune response following a group A beta-hemolytic streptococcal (GABHS) pharyngitis, and it is one of the major diagnostic criteria for Acute Rheumatic Fever (ARF) diagnosis. Despite having been known and studied for centuries, there are still no standardized therapies or official guidelines for SC treatment, so that it is necessarily left to physicians' clinical experience. Antibiotic treatment, symptomatic therapies, and immunomodulatory treatment are the three pillars upon which SC patients' management is currently based, but they still lack a solid scientific basis. The aim of this writing is precisely to review the state of the art of SC's treatment, with an overview of the advances made in the last 5 years. However, since the therapeutic uncertainties are a mere reflection of the severe gap of knowledge that concerns SC's pathogenesis and manifestations, the importance of high-quality research studies based on homogenized methodologies, instruments, and measured outcomes will also be stressed.

Published
2022
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60. Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications.

Author

Costagliola G, Depietri G, Michev A, Riva A, Foiadelli T, Savasta S, Bonuccelli A, Peroni D, Consolini R, Marseglia GL, Orsini A, and Striano P

Abstract

Introduction: Recent studies prompted the identification of neuroinflammation as a potential target for the treatment of epilepsy, particularly drug-resistant epilepsy, and refractory status epilepticus. This work provides a systematic review of the clinical experience with anti-cytokine agents and agents targeting lymphocytes and aims to evaluate their efficacy and safety for the treatment of refractory epilepsy. Moreover, the review analyzes the main therapeutic perspectives in this field., Methods: A systematic review of the literature was conducted on MEDLINE database. Search terminology was constructed using the name of the specific drug (anakinra, canakinumab, tocilizumab, adalimumab, rituximab, and natalizumab) and the terms "status epilepticus," "epilepsy," and "seizure." The review included clinical trials, prospective studies, case series, and reports published in English between January 2016 and August 2021. The number of patients and their age, study design, specific drugs used, dosage, route, and timing of administration, and patients outcomes were extracted. The data were synthesized through quantitative and qualitative analysis., Results: Our search identified 12 articles on anakinra and canakinumab, for a total of 37 patients with epilepsy (86% febrile infection-related epilepsy syndrome), with reduced seizure frequency or seizure arrest in more than 50% of the patients. The search identified nine articles on the use of tocilizumab (16 patients, 75% refractory status epilepticus), with a high response rate. Only one reference on the use of adalimumab in 11 patients with Rasmussen encephalitis showed complete response in 45% of the cases. Eight articles on rituximab employment sowed a reduced seizure burden in 16/26 patients. Finally, one trial concerning natalizumab evidenced a response in 10/32 participants., Conclusion: The experience with anti-cytokine agents and drugs targeting lymphocytes in epilepsy derives mostly from case reports or series. The use of anti-IL-1, anti-IL-6, and anti-CD20 agents in patients with drug-resistant epilepsy and refractory status epilepticus has shown promising results and a good safety profile. The experience with TNF inhibitors is limited to Rasmussen encephalitis. The use of anti-α4-integrin agents did not show significant effects in refractory focal seizures. Concerning research perspectives, there is increasing interest in the potential use of anti-chemokine and anti-HMGB-1 agents., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Costagliola, Depietri, Michev, Riva, Foiadelli, Savasta, Bonuccelli, Peroni, Consolini, Marseglia, Orsini and Striano.)

Published
2022
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61. The decrease of Kawasaki syndrome during the second COVID-19 wave: a potential, unexpected effect of social distancing.

Author

Mastrolia MV, Agostiniani R, Azzari C, Bernardini R, Bottone U, Calabri GB, Civitelli F, Consolini R, Danieli R, Di Silvio R, Falorni S, Gagliardi L, Grosso S, Indolfi G, L'Erario M, Martini M, Memmini G, Peroni D, Pezzati M, Suriano G, Tafi L, Trapani S, Vaccaro A, Vasarri PL, and Gabriele S

Subjects
Humans, Physical Distancing, SARS-CoV-2, COVID-19 prevention & control, Mucocutaneous Lymph Node Syndrome diagnosis, Mucocutaneous Lymph Node Syndrome epidemiology
Published
2022
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62. A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors.

Author

Orsini A, Foiadelli T, Magistrali M, Carli N, Bagnasco I, Dassi P, Verrotti A, Marcotulli D, Canavese C, Nicita F, Capuano A, Marra C, Fetta A, Nosadini M, Sartori S, Papa A, Viri M, Greco F, Pavone P, Simonini G, Matricardi S, Siquilini S, Marchese F, De Grandis E, Brunenghi BM, Malattia C, Bassanese F, Bergonzini P, Bonuccelli A, Consolini R, Marseglia GL, Peroni D, Striano P, Cordelli D, and Savasta S

Subjects
Adolescent, Child, Humans, Prognosis, Retrospective Studies, Chorea diagnosis, Chorea drug therapy, Chorea epidemiology, Mental Disorders, Rheumatic Fever
Abstract

Objectives: Sydenham's Chorea (SC) is a neuropsychiatric disorder and a major manifestation of acute rheumatic fever. The erroneous assumption that SC is a benign and self-limiting disease, has led to a lack of high-quality scientific evidence of the therapeutical and prognostic features of SC., Study Design: We retrospectively analyzed the medical records of patients <18-years old with SC in 17 Italian pediatric centers. Recorded data included clinical, instrumental and laboratory parameters. Prognostic risk factors including treatment regimens were assessed with univariate and multivariate sub-analysis., Results: We included 171 patients with SC. 66% had generalized chorea, and 34% hemichorea. 81% had carditis (subclinical in 65%). Additional neurological symptoms were reported in 60% of the patients, mainly dysarthria and dysgraphia. 51% had neuropsychiatric symptoms at onset, which persisted after 12 months in 10%. Among psychiatric manifestations, the most common was anxiety disorder/depression (77%). Neurological remission was reached by 93% of the patients at 6 months; 9% relapsed. Patients were treated as follows: 11% penicillin alone, 37% immunomodulatory therapy, 16% symptomatic drugs (i.e. anti-seizure medication, dopamine antagonists) and 37% both symptomatic and immunomodulatory treatment. Neurological outcome did not differ between groups. Patients receiving symptomatic drugs had a higher risk of relapse on multivariate analysis (p = 0.045)., Conclusions: Treatment of SC was largely heterogeneous. Based on our results, immunomodulatory therapy did not show higher efficacy at medium term, although it was associated to a slightly lower risk of relapse compared to symptomatic therapy. Longitudinal studies are needed to assess specific risk factors and best treatment options., Competing Interests: Declaration of competing interest All Authors declare that they have no conflict of interest to disclose., (Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Published
2022
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63. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Author

Haar, N. Ter, Jeyaratnam, J., Lachmann, H.J., Simon, A., Brogan, P.A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E.P., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., ter Haar, N. M., Jeyaratnam, J., Lachmann, H. J., Simon, A., Brogan, P. A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., and Gattorno, M.

Subjects
Diarrhea, Male, Adolescent, Genotype, Vomiting, Immunology, Lymphadenopathy, Mevalonic Aciduria, Eurofever Project, Hereditary Autoinflammatory Disease, Hyper IgD syndrome, Mevalonate Kinase Deficiency, Mevalonic Aciduria, Skin Diseases, Uveitis, Rheumatology, Cerebellar Diseases, Intellectual Disability, Journal Article, Immunology and Allergy, Humans, Registries, Hyper IgD syndrome, Age of Onset, Child, Preschool, Eurofever Project, Retrospective Studies, Stomatitis, Arthritis, Infant, Newborn, Headache, Infant, Pharyngitis, Amyloidosis, Myalgia, Aphthous, Conjunctivitis, Newborn, Arthralgia, Hereditary Autoinflammatory Disease, Abdominal Pain, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Stomatitis, Aphthous, Female, Mevalonate Kinase Deficiency, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
Abstract

OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.

Published
2016

64. Correction: A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry [Pediatr Rheumatol., 15, (2017) (84)] DOI: 10.1186/s12969-017-0213-x

Author

Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M. C., Civino, A., Martino, S., Olivieri, A. N., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., Rigante D. (ORCID:0000-0001-7032-7779), Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M. C., Civino, A., Martino, S., Olivieri, A. N., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., and Rigante D. (ORCID:0000-0001-7032-7779)

Abstract

Following publication of the original article [1], the authors reported that the names of two institutional authors - EUROFEVER and the Paediatric Rheumatology International Trials Organisation (PRINTO) - had been unintentionally omitted in the final online version of the manuscript. The corrected author list is shown in this Correction.

Published
2018

65. The Italian version of the juvenile arthritis multidimensional assessment report (JAMAR)

Author

Consolaro, A, Bovis, F, Pistorio, A, Cimaz, R, De Benedetti, F, Miniaci, A, Corona, F, Gerloni, F, Martino, S, Pastore, S, Barone, P, Pieropan, S, Cortis, E, Podda, Ra, Gallizzi, R, Civino, A, La Torre, F, Rigante, Donato, Consolini, R, Maggio, Mc, Magni-Manzoni, S, Perfetti, F, Toppino, C, Licciardi, F, Garrone, M, Scala, S, Patrone, E, Tonelli, M, Tani, D, Ravelli, A, Martini, A, Ruperto, N, Rigante D (ORCID:0000-0001-7032-7779), Consolaro, A, Bovis, F, Pistorio, A, Cimaz, R, De Benedetti, F, Miniaci, A, Corona, F, Gerloni, F, Martino, S, Pastore, S, Barone, P, Pieropan, S, Cortis, E, Podda, Ra, Gallizzi, R, Civino, A, La Torre, F, Rigante, Donato, Consolini, R, Maggio, Mc, Magni-Manzoni, S, Perfetti, F, Toppino, C, Licciardi, F, Garrone, M, Scala, S, Patrone, E, Tonelli, M, Tani, D, Ravelli, A, Martini, A, Ruperto, N, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 1296 JIA patients (7.2% systemic, 59.5% oligoarticular, 21.4% RF negative polyarthritis, 11.9% other categories) and 100 healthy children, were enrolled in 18 centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the Paediatric Rheumatology Quality of Life (PRQL) Psychosocial Health (PsH) subscales. All JAMAR components revealed good psychometric performances. In conclusion, the Italian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.

Published
2018

66. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG

Subjects
Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Published
2014

68. The Eurofever project: an update on the longitudinal stage

Author

Finetti, M, Federici, S, Frenkel, J, Ozen, S, Lachmann, H, De Benedetti, F, Swart, J, Cantarini, L, Gallizzi, R, Cattalini, M, Cimaz, R, Rigante, Donato, Anton, J, Alessio, M, Olivieri, An, Dolezalova, P, Jansson, A, Fabio, G, Sanchez Manubens, J, Hachulla, E, Consolini, R, Krause, K, Ekinci, Z, Brunner, J, Koné-Paut, I, Filocamo, G, Pinedo, Mdc, Papadopoulou-Alataki, E, Bezrodnik, L, Martini, A, Ruperto, N, and Gattorno, M.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Hereditary periodic fever
Published
2017

69. Toward the Knowledge of the Epidemiological Impact of Acute Rheumatic Fever in Italy.

Author

Alberio AMQ, Pieroni F, Di Gangi A, Cappelli S, Bini G, Abu-Rumeileh S, Orsini A, Bonuccelli A, Peroni D, Assanta N, Gaggiano C, Simonini G, and Consolini R

Abstract

Background: To estimate the incidence of Acute Rheumatic Fever (ARF) in Tuscany, a region of Central Italy, evaluating the epidemiological impact of the new diagnostic guidelines, and to analyse our outcomes in the context of the Italian overview. Methods: A multicenter and retrospective study was conducted involving children <18 years old living in Tuscany and diagnosed in the period between 2010 and 2019. Two groups were established based on the new diagnostic criteria: High-Risk (HR) group patients, n = 29 and Low-Risk group patients, n = 96. Results: ARF annual incidence ranged from 0.91 to 7.33 out of 100,000 children in the analyzed period, with peak of incidence registered in 2019. The application of HR criteria led to an increase of ARF diagnosis of 30%. Among the overall cohort joint involvement was the most represented criteria (68%), followed by carditis (58%). High prevalence of subclinical carditis was observed (59%). Conclusions: Tuscany should be considered an HR geographic area and HR criteria should be used for ARF diagnosis in this region., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Alberio, Pieroni, Di Gangi, Cappelli, Bini, Abu-Rumeileh, Orsini, Bonuccelli, Peroni, Assanta, Gaggiano, Simonini and Consolini.)

Published
2021
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70. Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.

Author

Costagliola G, Cappelli S, and Consolini R

Abstract

During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction of targeted treatments. Autoimmunity is observed with particular frequency in patients with primary antibody deficiencies, such as common variable immunodeficiency (CVID) and selective IgA deficiency, but combined immunodeficiency disorders (CIDs) and disorders of innate immunity have also been associated with autoimmunity. Among CIDs, the highest incidence of autoimmunity is described in patients with autoimmune polyendocrine syndrome 1, LRBA, and CTLA-4 deficiency, and in patients with STAT-related disorders. The pathogenesis of autoimmunity in patients with immunodeficiency is far to be fully elucidated. However, altered germ center reactions, impaired central and peripheral lymphocyte negative selection, uncontrolled lymphocyte proliferation, ineffective cytoskeletal function, innate immune defects, and defective clearance of the infectious agents play an important role. In this paper, we review the main immunodeficiencies associated with autoimmunity, focusing on the pathogenic mechanisms responsible for autoimmunity in each condition and on the therapeutic strategies. Moreover, we provide a diagnostic algorithm for the diagnosis of PIDs in patients with autoimmunity.

Published
2021
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72. Combined antiretroviral therapy reduces hyperimmunoglobulinemia in HIV-1 infected children

Author

Chiappini, E, Galli, L, Tovo, PA, Gabiano, C, de Martino, M, Osimani, P, Cordiali, R, De Mattia, D, Manzioma, M, DI BARI, DANIELA COLOMBA, Ruggeri, M, Masi, M, Miniaci, A, Specchia, F, Ciccia, M, Lanari, M, Baldi, F, Battisti, L, Schumacher, R, Duse, M, Fiorino, C, Dessi, C, Pintor, C, Dedoni, M, Fenu, ML, CAVALLINI, RAFFAELLA, D'ANASTASIO, ELISABETTA, Merolla, F, Sticca, M, Pomero, G, Bezzi, T, Fiumana, E, Paganelli, S, Vierucci, A, Vitucci, P, CECCHI, MARIA TERESA, Cosso, D, Timitilli, A, Stronati, M, Plebani, A, PINZANI, ROBERTO, VIGANO', ALDO, Giacomet, V, Bianchi, R, SALVINI, FRANCESCO, Zuccotti, GV, Giovannini, M, Ferraris, G, Lipreri, R, Moretti, C, Cellini, M, Cano, MC, Palazzi, G, Guarino, A, Bruzzese, E, DE MARCO, GIUSEPPINA, Tarallo, L, TANCREDI, FERNANDO ANTONIO, Giaquinto, C, D'Elia, R, Rampon, O, Nogare, EDR, SANFILIPPO, ALESSIA, Romano, A, Saitta, M, Dodi, I, Barone, A, Maccabruni, A, Consolini, R, Legitimo, A, Magnani, C, Falconieri, P, Fundaro, C, Genovese, O, Salvucci, S, Casadei, AM, Gattinara, GC, Bernardi, S, PALMA, PASQUALE, Anzidei, G, Anzidei, M, Cerilli, S, Catania, S, Ajassa, C, Ganau, A, Cristiano, L, Mazza, A, Di Palma, A, Garetto, S, Riva, C, Scolfaro, C, Portelli, V, Rabusin, M, Pellegatta, A, Molesini, M, Chiappini, E, Galli, L, Tovo, PA, Gabiano, C, de Martino, M, Osimani, P, Cordiali, R, De Mattia, D, Manzioma, M, Di Bari, C, Ruggeri, M, Masi, M, Miniaci, A, Specchia, F, Ciccia, M, Lanari, M, Baldi, F, Battisti, L, Schumacher, R, Duse, M, Fiorino, C, Dessi, C, Pintor, C, Dedoni, M, Fenu, ML, Cavallini, R, Anastasio, E, Merolla, F, Sticca, M, Pomero, G, Bezzi, T, Fiumana, E, Paganelli, S, Vierucci, A, Vitucci, P, Cecchi, MT, Cosso, D, Timitilli, A, Stronati, M, Plebani, A, Pinzani, R, Vigano, A, Giacomet, V, Bianchi, R, Salvini, F, Zuccotti, GV, Giovannini, M, Ferraris, G, Lipreri, R, Moretti, C, Cellini, M, Cano, MC, Palazzi, G, Guarino, A, Bruzzese, E, De Marco, G, Tarallo, L, Tancredi, F, Giaquinto, C, D'Elia, R, Rampon, O, Nogare, EDR, Sanfilippo, A, Romano, A, Saitta, M, Dodi, I, Barone, A, Maccabruni, A, Consolini, R, Legitimo, A, Magnani, C, Falconieri, P, Fundaro, C, Genovese, O, Salvucci, S, Casadei, AM, Gattinara, GC, Bernardi, S, Palma, P, Anzidei, G, Anzidei, M, Cerilli, S, Catania, S, Ajassa, C, Ganau, A, Cristiano, L, Mazza, A, Di Palma, A, Garetto, S, Riva, C, Scolfaro, C, Portelli, V, Rabusin, M, Pellegatta, A, and Molesini, M

Subjects
Adult, medicine.medical_specialty, Adolescent, immunogiobulins, Immunology, immunoglobulins, combined antiretroviral therapy, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Gastroenterology, children, Hypergammaglobulinemia, Internal medicine, medicine, Humans, Immunology and Allergy, Child, Therapeutic regimen, biology, business.industry, Immunoglobulins, Intravenous, Infant, Normal population, hiv-1 infection, Settore MED/38, Antiretroviral therapy, HIV Reverse Transcriptase, Infectious Diseases, Child, Preschool, Intravenous IG, HIV-1, biology.protein, HIV-1 infection, Drug Evaluation, Reverse Transcriptase Inhibitors, Drug Therapy, Combination, Antibody, business, Viral load
Abstract

Objective: To evaluate the effect of combined antiretroviral therapy on serum immunoglobulin (Ig) levels in HIV-1 perinatally infected children.Methods: Data from 1250 children recorded by the Italian Register for HIV Infection in Children from 1985 to 2002 were analysed. Since Ig levels physiologically vary with age, differences at different age periods were evaluated as differences in z-scores calculated using means and standard deviations of normal population for each age period. Combined antiretroviral therapy has become widespread in Italy since 1996, thus differences in Ig z-scores between the periods 1985-1995 and 1996-2002 were analysed. Data according to type of therapeutic regimen were also analysed.Results: Between the two periods 1985-1995 and 1996-2002, significant (P < 0.0001) decreases in IgG (6.29 +/- 4.72 versus 4.44 +/- 4.33), IgM (9.25 +/- 13.32 versus 5.61 +/- 7.93), and IgA (10.25 +/- 15.68 versus 6.48 +/- 11.56) z-scores, together with a parallel significant (P < 0.0001) increase in CD4 T-lymphocyte percentages, were found. These decreases were confirmed regardless of whether the children were receiving intravenous Ig or not. Ig z-scores were significantly higher in children receiving mono-therapy than in those receiving double-combined therapy (IgG, P < 0.0001; IgM, P = 0.003; IgA, P = 0.031) and in the latter children than in those receiving three or more drugs (P < 0.0001 for all z-scores). Ig z-scores correlated inversely with CD4 T lymphocyte percentages and, directly, with viral loads.Conclusions: Our data show that in HIV-1 infected children combined antiretroviral therapy leads to reduction of hyperimmunoglobulinemia which parallels restoration of CD4 T-lymphocyte percentage and viral load decrease, which it turn probably reflects improved B-lymphocyte functions.(C) 2004 Lippincott Williams Wilkins.

Published
2004
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73. Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.

Author

Costagliola G and Consolini R

Subjects
Common Variable Immunodeficiency diagnosis, Common Variable Immunodeficiency genetics, Common Variable Immunodeficiency pathology, Epstein-Barr Virus Infections immunology, Genetic Predisposition to Disease genetics, Herpesvirus 4, Human immunology, Humans, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes genetics, Immunologic Deficiency Syndromes pathology, Infant, Infant, Newborn, Lymphadenopathy diagnosis, Lymphadenopathy pathology, Lymphoproliferative Disorders diagnosis, Lymphoproliferative Disorders genetics, Lymphoproliferative Disorders pathology, Common Variable Immunodeficiency immunology, Immunologic Deficiency Syndromes immunology, Lymphadenopathy immunology, Lymphoproliferative Disorders immunology
Abstract

Lymphadenopathies can be part of the clinical spectrum of several primary immunodeficiencies, including diseases with immune dysregulation and autoinflammatory disorders, as the clinical expression of benign polyclonal lymphoproliferation, granulomatous disease or lymphoid malignancy. Lymphadenopathy poses a significant diagnostic dilemma when it represents the first sign of a disorder of the immune system, leading to a consequently delayed diagnosis. Additionally, the finding of lymphadenopathy in a patient with diagnosed immunodeficiency raises the question of the differential diagnosis between benign lymphoproliferation and malignancies. Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibody deficiencies the prevalence is lower. They are also evidenced in different combined immunodeficiency disorders, including Omenn syndrome, which presents in the first months of life. Interestingly, in the activated phosphoinositide 3-kinase delta syndrome, autoimmune lymphoproliferative syndrome, Epstein-Barr virus (EBV)-related lymphoproliferative disorders and regulatory T cell disorders, lymphadenopathy is one of the leading signs of the entire clinical picture. Among autoinflammatory diseases, the highest prevalence of lymphadenopathies is observed in patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) and hyper-immunoglobulin (Ig)D syndrome. The mechanisms underlying lymphoproliferation in the different disorders of the immune system are multiple and not completely elucidated. The advances in genetic techniques provide the opportunity of identifying new monogenic disorders, allowing genotype-phenotype correlations to be made and to provide adequate follow-up and treatment in the single diseases. In this work, we provide an overview of the most relevant immune disorders associated with lymphadenopathy, focusing on their diagnostic and prognostic implications., (© 2021 The Authors. Clinical & Experimental Immunology published by John Wiley & Sons Ltd on behalf of British Society for Immunology.)

Published
2021
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74. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study.

Author

Civino A, Alighieri G, Prete E, Caroleo AM, Magni-Manzoni S, Vinti L, Romano M, Santoro N, Filocamo G, Belotti T, Santarelli F, Gorio C, Ricci F, Colombini A, Pastore S, Cesaro S, Barone P, Verzegnassi F, Olivieri AN, Ficara M, Miniaci A, Russo G, Gallizzi R, Pericoli R, Breda L, Mura R, Podda RA, Onofrillo D, Lattanzi B, Tirtei E, Maggio MC, De Santis R, Consolini R, Arlotta A, La Torre F, Mainardi C, Pelagatti MA, Coassin E, Capolsini I, Burnelli R, Tornesello A, Soscia F, De Fanti A, Rigante D, Pizzato C, De Fusco C, Abate ME, Roncadori A, Rossi E, Stabile G, Biondi A, Lepore L, Conter V, Rondelli R, Pession A, and Ravelli A

Abstract

Background: Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis., Methods: We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis., Findings: Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0-27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed by patients with Langerhans histiocytosis (16 [47%] of 34), leukaemia (189 [32%] of 582), soft-tissue sarcomas (16 [24%] of 68), and neuroblastoma (21 [19%] of 109). In the 324 patients with cancer and musculoskeletal symptoms, the most common complaints were joint pain (199 [61%]), followed by limb bone pain (112 [35%]). Joint involvement had a prevalent monoarticular pattern (100 [48%] of 207) and oligoarticular pattern (86 [42%] had 2-4 joints involved and 20 [10%] had >4 joints involved), with the most frequently involved joints being the hip (88 [43%] of 207) and knee (81 [39%]). On multivariable analysis, limb bone pain was the independent variable most strongly associated with cancer (odds ratio [OR] 87·80 [95% CI 18·89-408·12]), followed by weight loss (59·88 [6·34-565·53]), thrombocytopenia (12·67 [2·40-66·92]), monoarticular involvement (11·30 [4·09-31·19]), hip involvement (3·30 [1·13-9·61]), and male sex (2·40 [1·03-5·58]). Factors independently associated with juvenile idiopathic arthritis were morning stiffness (OR 0·04 [95% CI 0·01-0·20]), joint swelling (0·03 [0·01-0·09]), and involvement of the small hand joints (0·02 [0-1·05])., Interpretation: Our study provides detailed information about presenting musculoskeletal manifestations of childhood cancers and highlights the clinical and laboratory features that are most helpful in the differential diagnosis with juvenile idiopathic arthritis., Funding: Associazione Lorenzo Risolo., Competing Interests: Declaration of interests We declare no competing interests., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Published
2021
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75. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study

Author

Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigators, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, Cazzola G.A., PESSION, ANDREA, Quinti., I, Soresina, A., Guerra, A., Rondelli, R., Spadaro, Giuseppe, Agostini, C., Milito, C., Trombetta, A. C., Visentini, M., Martini, H., Plebani, A., Fiorilli, M., De Mattia, D., Martire, B., Cardinale, F., Ranieri, G., Silvestri, F., Masi, M., Pession, A., Cossu, F., Anastasio, E., Schillirò, G., Matucci, A., Vultaggio, A., Aricò, M., Pietrogrande, M. C., Delle Piane, R. M., Panisi, C., Cambiaghi, G., Pignata, Claudio, Putti, M. C., Trizzino, A., Bertolini, P., Consolini, R., Ugazio, A. G., Duse, M., Iacobini, M., Moschese, V., Cancrini, C., Finocchi, A., Pesce, A. M., Cagliuso, M., Conti, V., Granata, G., Mitrevski, M., Cecere, F., Tovo, P. A., Martino, S., Montin, D., Nespoli, L., Marinoni, M., Pellegrini, F. P., Cazzola, G. A., Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigator, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Pession A, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, and Cazzola GA.

Subjects
Male, bronchiectasis, X-linked agammaglobulinemia, Comorbidity, Gastroenterology, Immunoglobulin G, 0302 clinical medicine, Agammaglobulinemia, Risk Factors, Immunology and Allergy, Prospective Studies, Child, Prospective cohort study, 0303 health sciences, biology, Incidence, common variable immunodeficiency, Middle Aged, 3. Good health, Treatment Outcome, Italy, Female, Intravenous, Adult, x-linked agammaglobulinemia, medicine.medical_specialty, immunoglobulin replacement, Adolescent, effectiveness, iga, Immunology, Disease-Free Survival, Injections, Databases, 03 medical and health sciences, Immunoglobulin replacement, common variable immunodeficiency, X-linked agammaglobulinemia, bronchiectasis, IgA, effectiveness, Internal medicine, medicine, Humans, Risk factor, Preschool, Factual, Aged, 030304 developmental biology, Settore MED/38 - Pediatria Generale e Specialistica, Bronchiectasis, business.industry, Common variable immunodeficiency, Infant, Pneumonia, X-Linked, medicine.disease, Databases, Factual, Injections, Intravenous, Child, Preschool, Immunoglobulin A, Follow-Up Studies, Common Variable Immunodeficiency, Genes, X-Linked, Genes, biology.protein, Trough level, business, 030215 immunology
Abstract

A 5-years multicenter prospective study on 201 patients with common variable immunodeficiencies and 101 patients with X-linked agammaglobulinemia over a cumulative follow-up period of 1,365 patient-years was conducted to identify prognostic markers and risk factors for associated clinical co-morbidities, the effects of long-term immunoglobulin treatment and the IgG trough level to be maintained over time required to minimise infection risk. Overall, 21% of the patients with common variable immunodeficiencies and 24% of patients with X-linked agammaglobulinemia remained infection free during the study. A reduction of pneumonia episodes has been observed after initiation of Ig replacement. During the observation time, pneumonia incidence remained low and constant over time. Patients with pneumonia did not have significant lower IgG trough levels than patients without pneumonia, with the exception of patients whose IgG trough levels were persistently < 400 mg/dL. In X-linked agammaglobulinemia, the only co-morbidity risk factor identified for pneumonia by the final multivariable model was the presence of bronchiectasis. In common variable immunodeficiencies, our data allowed us to identify a clinical phenotype characterised by a high pneumonia risk: patients with low IgG and IgA levels at diagnosis; patients who had IgA level < 7 mg/dL and who had bronchiectasis. The effect of therapy with immunoglobulins at replacement dosage for non-infectious co-morbidities (autoimmunity, lymphocytic hyperplasia and enteropathy) remains to be established. A unique general protective trough IgG level in antibody deficiency patients will remain undefined because of the major role played by the progression of lung disease in X-linked agammaglobulinemia and in a subset of patients with common variable immunodeficiencies.

Published
2011

76. Osteoid osteoma mimicking monoarticular juvenile idiopathic arthritis in a girl

Author

Massei, F., Laccetta, G., Barrani, M., Fabbri, L., Zampa, V., Paolicchi, A., Cioni, R., Ciancia, E. M., Scaglione, M., and Consolini, R.

Subjects
Osteoid osteoma, Femur, Juvenile idiopathic arthritis, Needle biopsy, Radiofrequency ablation, Pediatrics, Perinatology and Child Health, femur, juvenile idiopathic arthritis, needle biopsy, osteoid osteoma, radiofrequency ablation, Perinatology and Child Health, Pediatrics
Published
2016

77. Duration of ruptured membranes and vertical transmission of HIV-1: a meta-analysis from 15 prospective cohort studies

Author

Bulterys, M. B., Fowler, M. G., Hanson, I. C., Lemay, M., Mayaux, M. J., Mofenson, L., Newell, M. -L., Peavy, H., Peckham, C., Read, J. S., Rother, C., Simpson, B. J., Van Dyke, R. B., Harris, D. R., Peavy, H. H., Easley, K., Khammy, A., Nugent, R. P., Mitchell, R., Owen, W., Van Dyke, R., Widmayer, S., Bardeguez, A., Hanson, C., Wiznia, A., Luzuriaga, K., Viscarello, R., Ho, D., Koup, R., Chen, I., Krogstad, P., Mullins, J., Wolinsky, S., Korber, B., Walker, B., Ammann, A., Clapp, S., Mcdonald, D., Lapointe, N., Boucher, M., Fauvel, M., Hankins, C., Samson, J., Newell, M. L., Peckham, C. S., Thorne, C. N., Giaquinto, C., Ruga, E., De Rossi, A., Truscia, D., Grosch-Worner, I., Schafer, A., Mok, J., Johnstone, F., Jiminez, J., de Alba, C., Garcia Rodriguez, M. C., Bates, I., de Josee, I., Hawkins, F., Martinez Zapico, R., Pena, J. M., Gonzalez Garcia, J., Arribas Lopez, J. R., Asensi-Botet, F., Otero, M. C., Peerez-Tamarit, D., Moya, A., Galbis, M. J., Scherpbier, H., Boer, K., Bohlin, A. B., Lindgren, S., Anzen, B., Belfrage, E., Lidin-Jansson, G., Levy, J., Barlow, P., Hainaut, M., Peltier, A., Ferrazin, A., De Maria, A., Gotta, C., Mur, A., Vinolas, M., Paya, A., Loepez-Vilchez, M. A., Coll, O., Fortuny, C., Boguna, J., Casellas Caro, M., Canet, Y., Pardi, G., Ravizza, M., Semprini, E., Castagna, C., Fiore, S., Guerra, B., Lanari, M., Bianchi, S., Bovicelli, L., Prati, E., Zanelli, S., Duse, M., Soresina, A., Scaravelli, G., Stegagno, M., De Santis, M., Muggiasca, M. L., Vigano, A., Spinillo, A., Ravagni Probizer, F., Bucceri, A., Rancilio, L., Taylor, G. P., Lyall, H., Penn, Z., Blott, M., Valerius, N. H., Martinelli, P., Buffolano, W., Tibaldi, C., Ziarati, N., Semprini, A., Della Torre, M., Parazzini, F., Dallacasa, P., Bianchi, U., Pachi, A., Mancuso, S., Villa, P., Conti, M., Principi, N., Muggiasca, M., Marchisio, P., Zara, C., Ravagni, F., Vignali, M., Rossi, G., Selvaggi, L., Greco, P., Vimercati, A., Massi, G., Innocenti, T., Fiscella, A., Sansone, M., Benedetto, C., Tadrist, B., Thevenieau, D., Gondry, J., Paulard, B., Alisy, C., Brault, D., Tordjeman, N., Mamou, J., Rozan, M., Colombani, D., Pincemaille, O., Salvetti, A., Chabanier, C., Hernandorena, X., Leroy, J., Schaal, J., Balde, P., Faucher, P., Lachassinne, E., Benoit, S., Douard, D., Hocke, C., Barjot, P., Brouard, J., Delattre, P., Stien, L., Audibert, F., Labrune, P., Vial, M., Mazy, F., Sitbon, D., Crenn-Hebert, C., Floch-Tudal, C., Akakpo, R., Daveau, C., Leblanc, A., Cesbron, P., Duval-Arnould, M., Huraux-Rendu, C., Lemerle, S., Touboul, C., Guerin, M., Maingueneau, C., Reynaud, I., Rousseau, T., Ercoil, V., Lanza, M., Denavit, M., Garnier, J., Lahsinat, K., Pia, P., Allouche, C., Nardou, M., Grall, F., May, A., Dallot, M., Lhuillier, P., Cecile, W., Mezin, R., Bech, A., Lobut, J., Algava, G., Chalvon Dermesay, A., Busuttil, R., Jacquemot, M., Bader-Meunier, B., Fridman, S., Codaccioni, X., Maxingue, F., Thomas, D., Alain, J., De Lumley, L., Tabaste, J., Bailly Salin, P., Seaume, H., Guichard, A., Kebaill, K., Roussouly, C., Botto, C., De Lanete, A., Wipff, P., Cravello, L., De Boisse, P., Leclaire, M., Michel, G., Crumiere, C., Lefevre, V., Le Lorier, B., Pauly, I., Robichez, B., Seguy, D., Delhinger, M., Rideau, F., Talon, P., Benos, P., Huret, C., Nicolas, J., Heller-Roussin, B., Saint-Leger, S., Delaporte, M., Hubert, C., De Sarcus, B., Karoubi, P., Mechinaud, F., Bertcrottiere, D., Bongain, A., Monpoux, F., De Gennes, C., Devianne, F., Nisand, I., Rousset, M., Mouchnino, G., Muray, J., Munzer, M., Quereux, C., Brossard, V., Clavier, B., Allemon, M., Rotten, D., Stephan, J., Varlet, M., Guyot, B., Narcy, P., Bardinet, F., De Caunes, F., Jeny, R., Robin, M., Raison Boulley, A., Savey, L., Berrebi, A., Tricoire, J., Borderon, J., Fignon, A., Guillot, F., Maria, B., Broyard, A., Chitrit, Y., Firtion, G., Mandelbrot, L., Lafay Pillet, M., Parat, S., Boissinot, C., Garec, N., Levine, M., Ottenwalter, A., Schaller, F., Vilmer, E., Courpotin, C., Brunner, C., Ciraru-Vigneron, N., Hatem-Gantzer, G., Fritel, X., Wallet, A., Bouille, J., Milliez, J., Bensaid Mrejen, D., Dermer, E., Noseda, G., Bardou, D., Cressaty, J., Francoual, C., Carlus Moncomble, C., Cohen, H., Blanche, S., Bastion, H., Benifla, J., Benkhatar, F., Berkane, N., Hervee, F., Ronzier, M., Mayaux, Mj., de Martino, M., Tovo, P. -A., Galli, L., Gabiano, C., Ferraris, G., Garetto, S., Palomba, E., Riva, C., Vierucci, A., de Luca, M., Farina, S., Fundaro, C., Genovese, O., Mereu, G., Forni, G. L., Casadei, A., Zuccotti, G. V., Riva, E., Cellini, M., Baraldi, C., Consolini, R., Palla, G., Ruggeri, M., Ciccimarra, F., Guarino, A., Osimani, P., Benaglia, G., Romano, A., De Mattia, D., Caselli, D., Boni, S., Dell'Erba, G., Bassanetti, F., Sticca, M., Timpano, C., Magnani, C., Salvatore, C., Lipreri, R., Tornaghi, R., Pinzani, R., Cecchi, M. T., Bezzi, T., Battisti, L., Bresciani, E., Castelli Gattinara, G., Nasi, C., Pellegatta, A., Mazza, A., Baldi, F., Altobelli, R., Deiana, M., Colnaghi, C., Tarallo, L., Tondo, U., Anastasio, E., Chiriaco, P. G., Ruggeri, C., Scott, G., Hutto, C., O'Sullivan, M., Malmsberry, A., Willoughby, A., Burns, D., Goedert, J., Landesman, S., Minkoff, H., Mendez, H., Holman, S., Rubinstein, A., Durako, S., Muenz, L., Goodwin, S., Bryson, Y., Dillon, M., Nielsen, K., Boyer, P., Liao, D., Keller, M., Deveikis, A., Nesheim, S., Lindsay, M., Lee, F., Nahmias, A., Sawyer, M., Vink, P., Farley, J., Alger, L., Abrams, E., Bamji, M., Lambert, G., Schoenbaum, E., Thomas, P., Weedon, J., Palumbo, P., Denny, T., Oleske, J., Bulterys, M., Simonds, R., Ethier-Ives, J., Rogers, M., Schluchter, M., Kutner, M., Kaplan, S., Kattan, M., Lipshultz, S., Mellins, R., Shearer, W., Sopko, G., Sloand, E., Wu, M., Kind, C., Nadal, D., Rudin, C., Siegrist, C. -A., Wyler, C. -A., Cheseaux, J. -J., Aebi, C., Gnehm, H., Schubiger, G., Klingler, J., Hunziker, U., Kuchler, H., Gianinazzi, M., Buhlmann, U., Biedermann, K., Lauper, U., Irion, O., Brunelli, A., Spoletini, G., Schreyer, A., Hosli, I., Saurenmann, E., Drack, G., Isenschmid, M., Poorbeik, M., Schupbach, J., Perrin, L., Erb, P., Joller, H., Kovacs, A., Stek, A., Chan, L., Khoury, M., Diaz, C., Pacheco-Acosta, E., Tuomala, R., Cooper, E., Mesthene, D., Pitt, J., Higgins, A., Moroso, G., Rich, K., Turpin, D., Cooper, N., Davenny, K., Thompson, B., Andiman, W., Simpson, J., THE INTERNATIONAL PERINATAL HIV, Group, Martinelli, Pasquale, Bulterys M.B., Fowler M.G., Hanson I.C., Lemay M., Mayaux M.J., Mofenson L., Newell M.-L., Peavy H., Peckham C., Read J.S., Rother C., Simpson B.J., Van Dyke R.B., Harris D.R., Peavy H.H., Easley K., Khammy A., Nugent R.P., Mitchell R., Owen W., Van Dyke R., Widmayer S., Bardeguez A., Hanson C., Wiznia A., Luzuriaga K., Viscarello R., Ho D., Koup R., Chen I., Krogstad P., Mullins J., Wolinsky S., Korber B., Walker B., Ammann A., Clapp S., McDonald D., Lapointe N., Boucher M., Fauvel M., Hankins C., Samson J., Newell M.L., Peckham C.S., Thorne C.N., Giaquinto C., Ruga E., De Rossi A., Truscia D., Grosch-Worner I., Schafer A., Mok J., Johnstone F., Jiminez J., de Alba C., Garcia Rodriguez M.C., Bates I., de Josee I., Hawkins F., Martinez Zapico R., Pena J.M., Gonzalez Garcia J., Arribas Lopez J.R., Asensi-Botet F., Otero M.C., Peerez-Tamarit D., Moya A., Galbis M.J., Scherpbier H., Boer K., Bohlin A.B., Lindgren S., Anzen B., Belfrage E., Lidin-Jansson G., Levy J., Barlow P., Hainaut M., Peltier A., Ferrazin A., De Maria A., Gotta C., Mur A., Vinolas M., Paya A., Loepez-Vilchez M.A., Coll O., Fortuny C., Boguna J., Casellas Caro M., Canet Y., Pardi G., Ravizza M., Semprini E., Castagna C., Fiore S., Guerra B., Lanari M., Bianchi S., Bovicelli L., Prati E., Zanelli S., Duse M., Soresina A., Scaravelli G., Stegagno M., De Santis M., Muggiasca M.L., Vigano A., Spinillo A., Ravagni Probizer F., Bucceri A., Rancilio L., Taylor G.P., Lyall H., Penn Z., Blott M., Valerius N.H., Martinelli P., Buffolano W., Tibaldi C., Ziarati N., Semprini A., Della Torre M., Parazzini F., Dallacasa P., Bianchi U., Pachi A., Mancuso S., Villa P., Conti M., Principi N., Muggiasca M., Marchisio P., Zara C., Ravagni F., Vignali M., Rossi G., Selvaggi L., Greco P., Vimercati A., Massi G., Innocenti T., Fiscella A., Sansone M., Benedetto C., Tadrist B., Thevenieau D., Gondry J., Paulard B., Alisy C., Brault D., Tordjeman N., Mamou J., Rozan M., Colombani D., Pincemaille O., Salvetti A., Chabanier C., Hernandorena X., Leroy J., Schaal J., Balde P., Faucher P., Lachassinne E., Benoit S., Douard D., Hocke C., Barjot P., Brouard J., Delattre P., Stien L., Audibert F., Labrune P., Vial M., Mazy F., Sitbon D., Crenn-Hebert C., Floch-Tudal C., Akakpo R., Daveau C., Leblanc A., Cesbron P., Duval-Arnould M., Huraux-Rendu C., Lemerle S., Touboul C., Guerin M., Maingueneau C., Reynaud I., Rousseau T., Ercoil V., Lanza M., Denavit M., Garnier J., Lahsinat K., Pia P., Allouche C., Nardou M., Grall F., May A., Dallot M., Lhuillier P., Cecile W., Mezin R., Bech A., Lobut J., Algava G., Chalvon Dermesay A., Busuttil R., Jacquemot M., Bader-Meunier B., Fridman S., Codaccioni X., Maxingue F., Thomas D., Alain J., De Lumley L., Tabaste J., Bailly Salin P., Seaume H., Guichard A., Kebaill K., Roussouly C., Botto C., De Lanete A., Wipff P., Cravello L., De Boisse P., Leclaire M., Michel G., Crumiere C., Lefevre V., Le Lorier B., Pauly I., Robichez B., Seguy D., Delhinger M., Rideau F., Talon P., Benos P., Huret C., Nicolas J., Heller-Roussin B., Saint-Leger S., Delaporte M., Hubert C., De Sarcus B., Karoubi P., Mechinaud F., Bertcrottiere D., Bongain A., Monpoux F., De Gennes C., Devianne F., Nisand I., Rousset M., Mouchnino G., Muray J., Munzer M., Quereux C., Brossard V., Clavier B., Allemon M., Rotten D., Stephan J., Varlet M., Guyot B., Narcy P., Bardinet F., De Caunes F., Jeny R., Robin M., Raison Boulley A., Savey L., Berrebi A., Tricoire J., Borderon J., Fignon A., Guillot F., Maria B., Broyard A., Chitrit Y., Firtion G., Mandelbrot L., Lafay Pillet M., Parat S., Boissinot C., Garec N., Levine M., Ottenwalter A., Schaller F., Vilmer E., Courpotin C., Brunner C., Ciraru-Vigneron N., Hatem-Gantzer G., Fritel X., Wallet A., Bouille J., Milliez J., Bensaid Mrejen D., Dermer E., Noseda G., Bardou D., Cressaty J., Francoual C., Carlus Moncomble C., Cohen H., Blanche S., Bastion H., Benifla J., Benkhatar F., Berkane N., Hervee F., Ronzier M., Mayaux MJ., de Martino M., Tovo P.-A., Galli L., Gabiano C., Ferraris G., Garetto S., Palomba E., Riva C., Vierucci A., de Luca M., Farina S., Fundaro C., Genovese O., Mereu G., Forni G.L., Casadei A., Zuccotti G.V., Riva E., Cellini M., Baraldi C., Consolini R., Palla G., Ruggeri M., Ciccimarra F., Guarino A., Osimani P., Benaglia G., Romano A., De Mattia D., Caselli D., Boni S., Dell'Erba G., Bassanetti F., Sticca M., Timpano C., Magnani C., Salvatore C., Lipreri R., Tornaghi R., Pinzani R., Cecchi M.T., Bezzi T., Battisti L., Bresciani E., Castelli Gattinara G., Nasi C., Pellegatta A., Mazza A., Baldi F., Altobelli R., Deiana M., Colnaghi C., Tarallo L., Tondo U., Anastasio E., Chiriaco P.G., Ruggeri C., Scott G., Hutto C., O'Sullivan M., Malmsberry A., Willoughby A., Burns D., Goedert J., Landesman S., Minkoff H., Mendez H., Holman S., Rubinstein A., Durako S., Muenz L., Goodwin S., Bryson Y., Dillon M., Nielsen K., Boyer P., Liao D., Keller M., Deveikis A., Nesheim S., Lindsay M., Lee F., Nahmias A., Sawyer M., Vink P., Farley J., Alger L., Abrams E., Bamji M., Lambert G., Schoenbaum E., Thomas P., Weedon J., Palumbo P., Denny T., Oleske J., Bulterys M., Simonds R., Ethier-Ives J., Rogers M., Schluchter M., Kutner M., Kaplan S., Kattan M., Lipshultz S., Mellins R., Shearer W., Sopko G., Sloand E., Wu M., Kind C., Nadal D., Rudin C., Siegrist C.-A., Wyler C.-A., Cheseaux J.-J., Aebi C., Gnehm H., Schubiger G., Klingler J., Hunziker U., Kuchler H., Gianinazzi M., Buhlmann U., Biedermann K., Lauper U., Irion O., Brunelli A., Spoletini G., Schreyer A., Hosli I., Saurenmann E., Drack G., Isenschmid M., Poorbeik M., Schupbach J., Perrin L., Erb P., Joller H., Kovacs A., Stek A., Chan L., Khoury M., Diaz C., Pacheco-Acosta E., Tuomala R., Cooper E., Mesthene D., Pitt J., Higgins A., Moroso G., Rich K., Turpin D., Cooper N., Davenny K., Thompson B., Andiman W., and Simpson J.

Subjects
Time Factors, Epidemiology, Infectious Disease Transmission, Prevention of perinatal transmission, Extraembryonic Membranes, Human immunodeficiency virus (HIV), HIV Infections, medicine.disease_cause, Cohort Studies, Pregnancy, Risk Factors, INFECTION, Vertical, Immunology and Allergy, HIV Infection, MOTHER-TO-CHILD, Pregnancy Complications, Infectious, Prospective cohort study, prevention of perinatal transmission, vertical transmission, obstetrics/gynaecology, epidemiology, Obstetrics, Transmission (medicine), Infectious, HUMAN-IMMUNODEFICIENCY-VIRUS, MOTHER-TO-CHILD, ZIDOVUDINE PROPHYLAXIS, RISK-FACTORS, TYPE-1, PREGNANCY, INFECTION, TRIAL, PREVENTION, Breast Feeding, Infectious Diseases, Meta-analysis, HUMAN-IMMUNODEFICIENCY-VIRUS, Vertical transmission, Regression Analysis, TRIAL, Female, Delivery, Obstetrics gynaecology, Human, medicine.medical_specialty, Time Factor, Ruptured membranes, Immunology, Regression Analysi, NO, ZIDOVUDINE PROPHYLAXIS, Extraembryonic Membrane, medicine, Humans, TYPE-1, business.industry, Risk Factor, Infant, Newborn, Infant, Obstetric, Delivery, Obstetric, Newborn, PREVENTION, Infectious Disease Transmission, Vertical, Pregnancy Complications, Obstetrics/gynaecology, RISK-FACTORS, Cohort Studie, business
Abstract

Objective: To test the a priori hypothesis that longer duration of ruptured membranes is associated with increased risk of vertical transmission of HIV. Design: The relationship between duration of ruptured membranes and vertical transmission of HIV was evaluated in an individual patient data meta-analysis. Methods: Eligible studies were prospective cohort studies including at least 100 mother-child pairs, from regions where HIV-infected women are counselled not to breastfeed. Analyses were restricted to vaginal deliveries and non-elective Cesarean sections; elective Cesarean section deliveries (those performed before onset of labour and before rupture of membranes) were excluded. Results: The primary analysis included 4721 deliveries with duration of ruptured membranes ≤ 24 h. After adjusting for other factors known to be associated with vertical transmission using logistic regression analysis to assess the strength of the relationship, the risk of vertical HIV transmission increased approximately 2% with an increase of 1 h in the duration of ruptured membranes [adjusted odds ratio, 1.02; 95% confidence interval, 1.01-1.04; for each 1 h increment]. There were no significant interactions of duration of ruptured membranes with study cohort or with any of the covariates, except maternal AIDS. Among women diagnosed with AIDS, the estimated probability of transmission increased from 8% to 31% with duration of ruptured membranes of 2 h and 24 h respectively (P < 0.01). Conclusions: These results support the importance of duration of ruptured membranes as a risk factor for vertical transmission of HIV and suggest that a diagnosis of AIDS in the mother at the time of delivery may potentiate the effect of duration of ruptured membranes. © 2001 Lippincott Williams & Wilkins.

Published
2001
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78. Age-related differences in the immune response could contribute to determine the spectrum of severity of COVID-19.

Author

Costagliola G, Spada E, and Consolini R

Subjects
Adaptive Immunity, Adolescent, Adult, Age of Onset, Aged, Angiotensin-Converting Enzyme 2 biosynthesis, COVID-19 etiology, Child, Child, Preschool, Comorbidity, Cytokine Release Syndrome etiology, Cytokine Release Syndrome immunology, Humans, Immunity, Innate, Infant, Inflammation immunology, Lymphocyte Subsets immunology, Male, Middle Aged, Receptors, Virus biosynthesis, Severity of Illness Index, Systemic Inflammatory Response Syndrome etiology, Systemic Inflammatory Response Syndrome immunology, Young Adult, Age Factors, Aging immunology, COVID-19 immunology, SARS-CoV-2
Abstract

Coronavirus disease 2019 (COVID-19), can present with a wide spectrum of severity. Elderly patients with cardiac, pulmonary and metabolic comorbidities are more likely to develop the severe manifestations of COVID-19, which are observed in less than 5% of the pediatric patients. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is able to induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators, strongly contributing to the pulmonary and systemic manifestations in COVID-19. In children, the immune dysregulation following SARS-CoV-2 can also be responsible of a severe disease phenotype defined as multisystem inflammatory syndrome in children. As the immune system undergoes a complex process of maturation from birth to adult age, differences in the immune and inflammatory response could have a significant impact in determining the spectrum of severity of COVID-19. Indeed, children show a higher ability to respond to viral infections and a reduced baseline pro-inflammatory state compared with elderly patients. Age and comorbidities contribute to disease severity through immune-mediated mechanisms, since they are associated with a chronic increase of pro-inflammatory mediators, and cause an enhanced susceptibility to develop an immune dysregulation following SARS-CoV-2 infection. Also the expression of ACE2, the receptor of SARS-CoV-2, varies with age, and is linked to the immune and inflammatory response through a complex, and not completely elucidated, network. This paper reviews the peculiar immunopathogenic aspects of COVID-19, with a focus on the differences between adult and pediatric patients., (© 2021 The Authors. Immunity, Inflammation and Disease published by John Wiley & Sons Ltd.)

Published
2021
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79. Severe COVID-19 in pediatric age: an update on the role of the anti-rheumatic agents.

Author

Costagliola G, Spada E, and Consolini R

Subjects
Child, Humans, Treatment Outcome, Antirheumatic Agents pharmacology, Biological Factors pharmacology, COVID-19 complications, COVID-19 immunology, COVID-19 prevention & control, Systemic Inflammatory Response Syndrome immunology, Systemic Inflammatory Response Syndrome prevention & control, COVID-19 Drug Treatment
Abstract

Background: SARS-CoV-2 can induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators (cytokine storm), strongly contributing to the pulmonary and systemic manifestations in severe coronavirus disease 2019 (COVID-19). As a consequence, different drugs active on the immune system have been proposed for the treatment of the disease in adults., Role of the Anti-Rheumatic Agents in Children: Children are more likely to develop a mild disease course, as the severe form of COVID-19 is identified in less than 5% of the pediatric patients. Moreover, in children a peculiar disease phenotype, defined as multisystem inflammatory syndrome in children (MIS-C) is observed, representing the most severe expression of the inflammatory dysregulation caused by SARS-CoV-2. The limited experience with the severe pediatric COVID-19 and MIS-C does not allow conclusions about the role of the immune pharmacological approach, and therefore the treatment of these conditions represents a considerable clinical challenge. The use of chloroquine, hydroxychloroquine, and colchicine in the early disease stages is not sufficiently supported by evidence, and there is an increasing interest in the role of biologic agents, including anti-IL-1 and anti-IL-6 agents, in the prevention and treatment of the severe manifestations of COVID-19., Conclusion: The therapeutic approach to pediatric COVID-19 is multidisciplinary, and anti-rheumatic agents have a prominent role in severe disease. This paper reviews the rationale for the use of anti-rheumatic agents in pediatric COVID-19 and MIS-C and the clinical experience with the single drugs. Finally, the areas of potential improvement in the use of anti-rheumatic agents, including the optimization of the drug choice and the timing of administration, are discussed.

Published
2021
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80. The role of inflammatory mediators in epilepsy: Focus on developmental and epileptic encephalopathies and therapeutic implications.

Author

Orsini A, Foiadelli T, Costagliola G, Michev A, Consolini R, Vinci F, Peroni D, Striano P, and Savasta S

Subjects
Animals, Chemokines, Cytokines, Immunomodulating Agents, Inflammation Mediators, Neuroinflammatory Diseases, Epilepsy drug therapy
Abstract

In recent years, there has been an increasing interest in the potential involvement of neuroinflammation in the pathogenesis of epilepsy. Specifically, the role of innate immunity (that includes cytokines and chemokines) has been extensively investigated either in animal models of epilepsy and in clinical settings. Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of epileptic disorders, in which uncontrolled epileptic activity results in cognitive, motor and behavioral impairment. By definition, epilepsy in DEE is poorly controlled by common antiepileptic drugs but may respond to alternative treatments, including steroids and immunomodulatory drugs. In this review, we will focus on how cytokines and chemokines play a role in the pathogenesis of DEE and why expanding our knowledge about the role of neuroinflammation in DEE may be crucial to develop new and effective targeted therapeutic strategies to prevent seizure recurrence and developmental regression., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Published
2021
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81. Corrigendum to: 'Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)' [Vaccine 36 (2018) Pages 3541–3542]

Author

Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana, Pignata, Claudio, Martire, B, Lassandro, G, Panza, R, Vacca, A, Marasco, C, Cardinale, F, Sisto, C, Pession, A, Ricci, G, Rondelli, R, Specchia, F, Plebani, A, Badolato, R, Lougaris, V, Soresina, A, Miniero, R, Anastasio, E, Paganelli, R, Dilizia, Sperli, D, Carpino, L, Cirillo, E, Gallo, V, Giardino, G, Spadaro, G, Pecoraro, A ), Putti, Mc, Agostini, C, Cinetto, F, Trizzino, A, Bertolini, P), Arlotta, A, Marseglia, Gl, Bossi, G, Consolini, R, and Et, Al.

Subjects
ANTIBODY-RESPONSES, Secondary immunodeficiency KeyWords Plus:CHRONIC GRANULOMATOUS-DISEASE, ADVISORY-COMMITTEE, ROTAVIRUS VACCINATION, IMMUNIZATION PRACTICES, Medicine, HUMORAL IMMUNITY, Author Keywords:Vaccination, Primary immunodeficiency, Syndromic immunodeficiency, ACUTE LYMPHOBLASTIC-LEUKEMIA, CALMETTE-GUERIN, POLYSACCHARIDE VACCINATION, MENDELIAN SUSCEPTIBILITY, General Veterinary, General Immunology and Microbiology, business.industry, Public Health, Environmental and Occupational Health, medicine.disease, Virology, Vaccination, Infectious Diseases, Molecular Medicine, business, Host (network)
Published
2018
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83. EVALUATION OF THE DISEASE COURSE OF ITALIAN CHILDREN WITH JUVENILE IDIOPATHIC ARTHRITIS TREATED WITH ETANERCEPT: PRELIMINARY RESULTS IN 1019 PATIENTS

Author

Davì, S., Verazza, S., Consolaro, A., Insalaco, A., Gerloni, V., Cimaz, R., Zulian, F., Lepore, L., Corona, F., Conti, G., Barone, P., Cattalini, M., Cortis, E., Breda, L., Olivieri, A. N., Civino, A., Rigante, D., La Torre, F., D'Angelo, G., Gallizzi, R., Maggio, M. C., Consolini, R., De Fanti, A., Alpigiani, M. G., Martini, A., Ravelli, A., and S. Davì , S. Verazza , A. Consolaro , A. Insalaco , V. Gerloni , R. Cimaz , F. Zulian , L. Lepore , F. Corona , G. Conti , P. Barone , M. Cattalini , E. Cortis , L. Breda , A.N. Olivieri , A. Civino , D. Rigante , F. La Torre , G. D'Angelo , R. Gallizzi , M.C. Maggio , R. Consolini , A. De Fanti , M.G. Alpigiani , A. Martini , A. Ravelli

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, JUVENILE IDIOPATHIC ARTHRITIS, ETANERCEPT, JADAS
Abstract

Methods: This is a multicenter, observational study that includes all children with JIA who were given ETN at Italian pediatric rheumatology centers after January 2000. Patients were classified in 2 groups: patients who were no longer taking ETN at study start (Group 1); patients who were still receiving ETN at study start (Group 2). Patients in Group 1 underwent only retrospective assessments, whereas patients in Group 2 underwent both retrospective and cross-sectional assessments. The primary outcome of the study were reasons for ETN discontinuation in patients in Group 1, and achievement of the states of inactive disease (ID), minimal disease activity (MDA) and parent- and child-acceptable symptom state (PASS, CASS) in patients in Group 2. The above states were assessed through both formal definitions and JADAS cutoffs. The secondary outcome was the evaluation of frequency and characteristics of ETN-related side effects. Results: So far, the data of 1019 patients (629 in Group 1 and 390 in Group 2) have been collected. Among the 629 patients in Group 1, reasons for ETN discontinuation evaluated in 460 patients included disease remission (48.5%), lack of efficacy (26.1%), and side effects (14.8%). The results of assessment of disease state through formal definitions in 371 children of the 390 children in Group 2 who had already undergone the cross-sectional evaluation were the following: ID 39.7%, MDA 63.0%, PASS 82.4%, CASS 75.8%. The percentages of patients who reached the same disease states assessed through JADAS cutoffs were: ID 45.9%, MDA 61.6%, PASS 70.0%, CASS 66.2%. Serious adverse events were seen in 17 patients and included inflammatory bowel disease (8 pts), tuberculosis (1 pt), CMV hepatitis (1 pt), recurrent pneumoniae (1 pt), varicella complicated by bronchopneumonia (1 pt), acute pancreatitis (1pt), bacterial osteomyelitis (1 pt), bladder carcinoma (1pt), thyroid carcinoma (1 pt); 1 patient died of sepsis. Conclusions: A substantial proportion of children currently receiving ETN were in the states of ID or MDA, or were satisfied with treatment outcome. Half of the patients who had been discontinued from ETN before study start had the medication stopped because of disease remission. Serious adverse events were uncommon.

Published
2015

84. Treatment with etanercept in 1019 Italian children with juvenile idiopathic arthriti: preliminary results

Author

Davì, S, Verazza, S, Consolaro, A, Insalaco, A, Gerloni, V, Cimaz, R, Zulian, F, Lepore, L, Corona, F, Conti, G, Barone, P, Cattalini, M, Cortis, E, Breda, L, Olivieri, An, Civino, A, Rigante, Donato, La Torre, F, D'Angelo, G, Gallizzi, R, Maggio, Mc, Consolini, R, De Fanti, A, Alpigiani, Mg, Martini, A, and Ravelli, A.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Juvenile idiopathic arthritis
Published
2015

85. Antiretroviral use in Italian children with perinatal HIV infection over a 14-year period

Author

Chiappini E, Galli L, Tovo PA, Gabiano C, Lisi C, Giacomet V, Bernardi S, Esposito S, Rosso R, Giaquinto C, Badolato R, GUARINO, ALFREDO, Maccabruni A, Masi M, Cellini M, Salvini F, Di Bari C, Dedoni M, Dodi I, de Martino M, Osimani P, Cordiali R., Larovere D, De Serio G, Giannini AM, Quercia M., Ruggeri M., Miniaci A, Specchia F, Ciccia M, Faldella G, Baldi F, Lanari M. Ciccia M, Bertulli C, Sorlini A, Ricci F, Dessy C, Pintor M, Fenu ML, Cavallini R, Aliffi A, Anastasio E, Aloe M., Abbagnato L., Merlino S, Fiumana E, Burnelli R, Bonsignori F, Gervaso P, Sollai S., Viscoli C, Cosso D, Timitilli A, Amoretti M., Vigano` A, Zuccotti GV, Mameli C, Fabiano V, Coletto S, Nello F, Riva E, Bettiga C, Picciolli, Irene, Preti Valentina, Tagliaferri Laura, Lipreri R, Mancini L., Mariotti I, Manzotti E, Giubbarelli F., GIANNATTASIO, ANTONIETTA, LO VECCHIO, ANDREA, BRUZZESE, EUGENIA, Tarallo L, Buffolano W., Pennazzato M, Rampon O., Dalle Nogare ER, Sanfilippo A, Romano A, Saitta M, Bandello MA, Tchana I, Maccabruni A., Felici L., Verrotti M., Consolini R, Palla G, Magnani C., Palma P, Pontrelli G, Tchidjou K. H, Genovese O, Falconieri P, Casadei M, Valentini P, Casadei, Martino, Anzidei, Cerilli, Catania Ajissa, Castelli Gattinara G., Cristiano R, Labalestra G, Portelli V., Mazza A, Chiarello P, Garazzino S, Mignone F, Calitri C., Rabusin M, Verzegnassi F., Pellegatta A., Boscardini L, Fortunati P, Da Riol R., Chiappini, E, Galli, L, Tovo, Pa, Gabiano, C, Lisi, C, Giacomet, V, Bernardi, S, Esposito, S, Rosso, R, Giaquinto, C, Badolato, R, Guarino, Alfredo, Maccabruni, A, Masi, M, Cellini, M, Salvini, F, Di Bari, C, Dedoni, M, Dodi, I, de Martino, M, Osimani, P, Cordiali, R., Larovere, D, De Serio, G, Giannini, Am, Quercia, M., Ruggeri, M., Miniaci, A, Specchia, F, Ciccia, M, Faldella, G, Baldi, F, Lanari M., Ciccia M, Bertulli, C, Sorlini, A, Ricci, F, Dessy, C, Pintor, M, Fenu, Ml, Cavallini, R, Aliffi, A, Anastasio, E, Aloe, M., Abbagnato, L., Merlino, S, Fiumana, E, Burnelli, R, Bonsignori, F, Gervaso, P, Sollai, S., Viscoli, C, Cosso, D, Timitilli, A, Amoretti, M., Vigano`, A, Zuccotti, Gv, Mameli, C, Fabiano, V, Coletto, S, Nello, F, Riva, E, Bettiga, C, Picciolli, Irene, Preti, Valentina, Tagliaferri, Laura, Lipreri, R, Mancini, L., Mariotti, I, Manzotti, E, Giubbarelli, F., Giannattasio, Antonietta, LO VECCHIO, Andrea, Bruzzese, Eugenia, Tarallo, L, Buffolano, W., Pennazzato, M, Rampon, O., Dalle Nogare, Er, Sanfilippo, A, Romano, A, Saitta, M, Bandello, Ma, Tchana, I, Maccabruni, A., Felici, L., Verrotti, M., Consolini, R, Palla, G, Magnani, C., Palma, P, Pontrelli, G, Tchidjou, K. H., Genovese, O, Falconieri, P, Casadei, M, Valentini, P, Casadei, Martino, Anzidei, Cerilli, Catania, Ajissa, Castelli Gattinara, G., Cristiano, R, Labalestra, G, Portelli, V., Mazza, A, Chiarello, P, Garazzino, S, Mignone, F, Calitri, C., Rabusin, M, Verzegnassi, F., Pellegatta, A., Boscardini, L, Fortunati, P, and Da Riol, R.

Abstract

BACKGROUND: Information on the use of new antiretroviral drugs in children in the real setting of clinical fields is largely unknown. METHODS: Data from 2554 combined antiretroviral therapy (cART) regimens administered to 911 children enrolled in the Italian Register for HIV infection in children, between 1996 and 2009, were analysed. Factors potentially associated with undetectable viral load and immunological response to cART were explored by Cox regression analysis. RESULTS: Proportion of protease inhibitor (PI)-based regimens significantly decreased from 88.0% to 51.2% and 54.9%, while proportion on non-nucleoside reverse transcriptase inhibitor (NNRTI)-based regimens increased from 4.5% to 38.8% and 40.2% in 1996-1999, 2000-2004 and 2005-2009, respectively (p < 0.0001). Significant change in the use of each antiretroviral drug occurred over the time periods (p < 0.0001). Factors independently associated with virological and immunological success were as follows: later calendar periods, younger age at regimen (only for virological success) and higher CD4(+) T-lymphocyte percentage at baseline. Use of unboosted PI was associated with lower adjusted hazard ratio (aHR) of virological or immunological success with respect to NNRTI- and boosted PI-based regimens, with no difference among these two latter types. CONCLUSION: Use of new generation antiretroviral drugs in Italian HIV-infected children is increasing. No different viro-immunological outcomes between NNRTI- and boosted PI-based cART were observed

Published
2012

86. Genotypic resistance profiles associated with virological failure to darunavir-containing regimens: a cross-sectional analysis

Author

Sterrantino, G, Zaccarelli, M, Colao, G, Baldanti, F, Di Giambenedetto, S, Carli, T, Maggiolo, F, Zazzi, M, Giacometti, A, Butini, L, Del Gobbo, R, Bagnarelli, P, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Callegaro, A, Calza, L, Re, MC, Pristera, R, Turconi, P, Mandas, A, Tini, S, Zoncada, A, Paolini, E, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Corsi, P, Galli, L, Di Pietro, M, Bartalesi, F, Tosti, A, Di Biagio, A, Setti, M, Bruzzone, B, di Biagio, A, Penco, G, Trezzi, M, Orani, A, Pardelli, R, Arcidiacono, I, Degiuli, A, de Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Cicconi, P, Rusconi, S, Gismondo, MR, Micheli, V, Biondi ML, Gianotti, N, Capetti, A, Meraviglia, P, Boeri, E, Mussini, C, Pecorari, M, Soria, A, Vecchi, L, Gerardo, AO, Santirocchi, M, Brustia, D, Maggiore, AO, Ravanini, P, Bello, FD, Romano, N, MANCUSO, Salvatrice, Calzetti, C, Maserati, R, Filice, G, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, R, Vatteroni, L, Vivarelli, A, Nerli, A, Lenzi, L, Magnani, G, Ortolani, P, Andreoni, M, Palamara, G, Fimiani, C, Palmisano, L, di Giambenedetto, S, Colafigli, M, Vullo, V, Turriziani, O, Montano, M, Antinori, A, Dentone, C, Gonnelli, A, de Luca, A, Palumbo, M, Ghisetti, V, Bonora, S, Foglie, PD, Rossi, C, Mondino, V, Malena, M, Grossi, P, Seminari, E, Poletti, F., Sterrantino, G, Zaccarelli, M, Colao, G, Baldanti, F, Di Giambenedetto, S, Carli, T, Maggiolo, F, Zazzi, M, Giacometti, A, Butini, L, Del Gobbo, R, Bagnarelli, P, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Callegaro, A, Calza, L, Re, MC, Pristera, R, Turconi, P, Mandas, A, Tini, S, Zoncada, A, Paolini, E, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Corsi, P, Galli, L, Di Pietro, M, Bartalesi, F, Tosti, A, Di Biagio, A, Setti, M, Bruzzone, B, di Biagio, A, Penco, G, Trezzi, M, Orani, A, Pardelli, R, Arcidiacono, I, Degiuli, A, de Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Cicconi, P, Rusconi, S, Gismondo, MR, Micheli, V, Biondi ML, Gianotti, N, Capetti, A, Meraviglia, P, Boeri, E, Mussini, C, Pecorari, M, Soria, A, Vecchi, L, Gerardo, AO, Santirocchi, M, Brustia, D, Maggiore, AO, Ravanini, P, Bello, FD, Romano, N, Mancuso, S, Calzetti, C, Maserati, R, Filice, G, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, R, Vatteroni, L, Vivarelli, A, Nerli, A, Lenzi, L, Magnani, G, Ortolani, P, Andreoni, M, Palamara, G, Fimiani, C, Palmisano, L, di Giambenedetto, S, Colafigli, M, Vullo, V, Turriziani, O, Montano, M, Antinori, A, Dentone, C, Gonnelli, A, de Luca, A, Palumbo, M, Ghisetti, V, Bonora, S, Foglie, PD, Rossi, C, Mondino, V, Malena, M, Grossi, P, Seminari, E, and Poletti, F

Subjects
Male, Time Factors, Cross-sectional study, Human immunodeficiency virus (HIV), Drug Resistance, HIV Infections, Drug resistance, medicine.disease_cause, Cohort Studies, Antiretroviral Therapy, Highly Active, Ritonavir-boosted darunavir, Genotype, HIV Infection, Treatment Failure, Viral, Genotypic resistance, Darunavir, Sulfonamides, General Medicine, Middle Aged, Virological failure, Infectious Diseases, Female, Human, medicine.drug, Adult, Microbiology (medical), Logistic Model, Time Factor, Antiretroviral Therapy, Settore MED/17 - MALATTIE INFETTIVE, Sulfonamide, Drug Resistance, Viral, medicine, Humans, Highly Active, Protease inhibitors, Cross-Sectional Studies, HIV Protease Inhibitors, HIV-1, Logistic Models, Mutation, HIV Protease Inhibitor, Cross-Sectional Studie, business.industry, Antiretroviral therapy, Virology, Protease inhibitor, Cohort Studie, business
Abstract

Introduction: This study aimed at defining protease (PR) resistance mutations associated with darunavir (DRV) failure and PR resistance evolution at DRV failure in a large database of treatment-experienced human immunodeficiency virus (HIV) patients. Results: Overall, 1,104 patients were included: 118 (10.7%) failed at a median observation time of 16 months. The mean number of PR mutations at baseline was 2.7, but it was higher in patients who subsequently failed DRV. In addition, the number of PR mutations increased at failure. The increase in the mean number of mutations was completely related to mutations considered to be associated with DRV resistance following the indications of the main DRV clinical trials. Discussion The higher statistical difference at baseline between failing versus non-failing patients was observed for the V32I and I84V mutations. At DRV failure, the major increase was still observed for V32I; I54L, V11I, T74P and I50V also increased. Despite the increment in the mean number of mutations per patient between baseline and failure, in 21 patients (17.8%) at baseline and 36 (30.5%) at failure, no PR mutation was detected. Conclusion: The HIV-DB interpretation algorithm identified few patients with full DRV resistance at baseline and few patients developed full resistance at DRV failure, indicating that complete resistance to DRV is uncommon. © Springer-Verlag 2011.

Published
2012

87. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever Registry

Author

ter Haar, N. m., Jeyaratnam, J., Lachmann, H. j., Simon, A., Brogan, P. a., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, Donato, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., Rigante, Donato (ORCID:0000-0001-7032-7779), ter Haar, N. m., Jeyaratnam, J., Lachmann, H. j., Simon, A., Brogan, P. a., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, Donato, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.

Published
2016

88. Disease status, reasons for discontinuation and adverse events in 1038 Italian children with juvenile idiopathic arthritis treated with etanercept.

Author

Verazza, S, Davì, S, Consolaro, A, Bovis, F, Insalaco, A, Magni Manzoni, S, Nicolai, R, Marafon, Dp, De Benedetti, F, Gerloni, V, Pontikaki, I, Rovelli, F, Cimaz, R, Marino, A, Zulian, F, Martini, G, Pastore, S, Sandrin, C, Corona, F, Torcoletti, M, Conti, G, Fede, C, Barone, P, Cattalini, M, Cortis, E, Breda, L, Olivieri, An, Civino, A, Podda, R, Rigante, Donato, La Torre, F, D'Angelo, G, Jorini, M, Gallizzi, R, Maggio, Mc, Consolini, R, De Fanti, A, Muratore, V, Alpigiani, Mg, Ruperto, N, Martini, A, Ravelli, A., Rigante, Donato (ORCID:0000-0001-7032-7779), Verazza, S, Davì, S, Consolaro, A, Bovis, F, Insalaco, A, Magni Manzoni, S, Nicolai, R, Marafon, Dp, De Benedetti, F, Gerloni, V, Pontikaki, I, Rovelli, F, Cimaz, R, Marino, A, Zulian, F, Martini, G, Pastore, S, Sandrin, C, Corona, F, Torcoletti, M, Conti, G, Fede, C, Barone, P, Cattalini, M, Cortis, E, Breda, L, Olivieri, An, Civino, A, Podda, R, Rigante, Donato, La Torre, F, D'Angelo, G, Jorini, M, Gallizzi, R, Maggio, Mc, Consolini, R, De Fanti, A, Muratore, V, Alpigiani, Mg, Ruperto, N, Martini, A, Ravelli, A., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

BACKGROUND: Data from routine clinical practice are needed to further define the efficacy and safety of biologic medications in children with juvenile idiopathic arthritis (JIA). The aim of this analysis was to investigate the disease status, reasons for discontinuation and adverse events in Italian JIA patients treated with etanercept (ETN). METHODS: In 2013, all centers of the Italian Pediatric Rheumatology Study Group were asked to make a census of patients given ETN after January 2000. Patients were classified in three groups: group 1 = patients still taking ETN; group 2 = patients discontinued from ETN for any reasons; group 3 = patients lost to follow-up while receiving ETN. All three groups received a retrospective assessment; patients in group 1 also underwent a cross-sectional assessment. RESULTS: 1038 patients were enrolled by 23 centers: 422 (40.7%) were in group 1, 462 (44.5%) in group 2, and 154 (14.8%) in group 3. Median duration of ETN therapy was 2.5 years. At cross-sectional assessment, 41.8% to 48.6% of patients in group 1 met formal criteria for inactive disease, whereas 52.4% of patients in group 2 and 55.8% of patients in group 3 were judged in clinical remission by their caring physician at last visit. A relatively greater proportion of patients with systemic arthritis were discontinued or lost to follow-up. Parent evaluations at cross-sectional visit in group 1 showed that 52.4% of patients had normal physical function, very few had impairment in quality of life, 51.2% had no pain, 76% had no morning stiffness, and 82.7% of parents were satisfied with their child's illness outcome. Clinically significant adverse events were reported for 27.8% of patients and ETN was discontinued for side effects in 9.5%. The most common adverse events were new onset or recurrent uveitis (10.2%), infections (6.6%), injection site reactions (4.4%), and neuropsychiatric (3.1%), gastrointestinal (2.4%), and hematological disorders (2.1%). Ten patients developed an

Published
2016

89. No pol mutation is associated independently with the lack of immune recovery in patients infected with HIV and failing antiretroviral therapy

Author

Gianotti, N1, Galli, L, Zazzi, M, Ghisetti, V, Bonora, S, Micheli, V, Meraviglia, P, Corsi, P, Bruzzone, B, Menzo, S, Di Giambenedetto, S, De Luca, A, Filice, G, Penco, G, Castagna, A, Collaborators Giacometti A, ARCA database i. n. i. t. i. a. t. i. v. e., Butini, L, del Gobbo, R, Tacconi, D, Corbelli, G, Zanussi, S, Monno, L, Punzi, G, Maggiolo, F, Callegaro, A, Calza, L, Re, Mc, Pristerà, R, Turconi, P, Mandas, A, Tini, S, Carnevale, G, Paolini, E, Amadio, G, Sighinolfi, L, Zuccati, G, Morfini, M, Manetti, R, Di Pietro, M, Bartalesi, F, Colao, G, Tosti, A, Di Biagio, A, Setti, M, Trezzi, M, Orani, A, Pardelli, R, De Gennaro, M, Chiodera, A, Scalzini, A, Palvarini, L, Almi, P, Todaro, G, Gianotti, N, Cicconi, P, Rusconi, S, Gismondo, Mr, Biondi, Ml, Capetti, A, Boeri, E, Pecorari, M, Mussini, C, Santirocchi, M, Brustia, D, Ravanini, P, Dal Bello, F, Romano, N, Mancuso, S, Calzetti, C, Maserati, R, Baldanti, F, Francisci, D, Parruti, G, Polilli, E, Sacchini, D, Martinelli, C, Consolini, R, Vatteroni, L, Vivarelli, A, Nerli, A, Lenzi, L, Magnani, G, Ortolani, P, Andreoni, M, Palamara, G, Fimiani, C, Palmisano, L, Antinori, A, Vullo, Vincenzo, Turriziani, O, Perno, Cf, Montano, M, Cenderello, G, Gonnelli, A, Romano, L, Palumbo, M, Delle Foglie, P, Rossi, C, Poletti, F, Mondino, V, Malena, M, Lattuada, E., Gianotti, N, Galli, L, Zazzi, M, Ghisetti, V, Bonora, S, Micheli, V, Meraviglia, P, Corsi, P, Bruzzone, B, Menzo, S, Di Giambenedetto, S, De Luca, A, Filice, G, Penco, G, Castagna, A, Mancuso, S, Gianotti N, Galli L, Zazzi M, Ghisetti V, Bonora S, Micheli V, Meraviglia P, Corsi P, Bruzzone B, Menzo S, Di Giambenedetto S, De Luca A, Filice G, Penco G, Castagna A, Giacometti A, Butini L, del Gobbo R, Tacconi D, Corbelli G, Zanussi S, Monno L, Punzi G, Maggiolo F, Callegaro A, Calza L, Re MC, Pristerà R, Turconi P, Mandas A, Tini S, Carnevale G, Paolini E, Amadio G, Sighinolfi L, Zuccati G, Morfini M, Manetti R, Di Pietro M, Bartalesi F, Colao G, Tosti A, Di Biagio A, Setti M, Trezzi M, Orani A, Pardelli R, De Gennaro M, Chiodera A, Scalzini A, Palvarini L, Almi P, Todaro G, Cicconi P, Rusconi S, Gismondo MR, Biondi ML, Capetti A, Boeri E, Pecorari M, Mussini C, Santirocchi M, Brustia D, Ravanini P, Dal Bello F, Romano N, Mancuso S, Calzetti C, Maserati R, Baldanti F, Francisci D, Parruti G, Polilli E, Sacchini D, Martinelli C, Consolini R, Vatteroni L, Vivarelli A, Nerli A, Lenzi L, Magnani G, Ortolani P, Andreoni M, Palamara G, Fimiani C, Palmisano L, Antinori A, Vullo V, Turriziani O, Perno CF, Montano M, Cenderello G, Gonnelli A, Romano L, Palumbo M, Delle Foglie P, Rossi C, Poletti F, Mondino V, Malena M, Lattuada E., Gianotti, Nicola, Galli, Laura, Zazzi, Maurizio, Ghisetti, Valeria, Bonora, Stefano, Micheli, Valeria, Meraviglia, Paola, Corsi, Paola, Bruzzone, Bianca, Menzo, Stefano, Di Giambenedetto, Simona, De Luca, Andrea, Filice, Gaetano, Penco, Giovanni, and Castagna, Antonella

Subjects
Male, HIV Infections, Drug resistance, Logistic regression, Resistance to nucleoside reverse transcriptase inhibitor, CD4+ T-lymphocyte, Retrospective Studie, Immunopathology, Antiretroviral Therapy, Highly Active, Resistance to non-nucleoside reverse transcriptase inhibitor, genetics, Resistance to protease inhibitor, HIV Infection, resistance to nucleoside reverse transcriptase inhibitors, Viral, Sida, resistance to protease inhibitors, biology, Reverse-transcriptase inhibitor, Viral Load, Genes, pol, drug therapy/immunology/virology, Reverse Transcriptase Inhibitor, Infectious Diseases, Treatment Outcome, resistance to non-nucleoside reverse transcriptase inhibitors, Reverse Transcriptase Inhibitors, Female, Viral load, medicine.drug, Human, pol, Anti-HIV Agents, Antiretroviral Therapy, Viremia, Infectious Disease, Settore MED/17 - MALATTIE INFETTIVE, pharmacology/therapeutic use, Acquired immunodeficiency syndrome (AIDS), Virology, Drug Resistance, Viral, medicine, Humans, Highly Active, Retrospective Studies, pharmacology/therapeutic use, Antiretroviral Therapy, Highly Active, CD4 Lymphocyte Count, Drug Resistance, genetics, Female, Genes, pol, HIV Infections, drug therapy/immunology/virology, HIV-1, drug effects/enzymology/genetics, Humans, Male, Mutation, Retrospective Studies, Reverse Transcriptase Inhibitors, therapeutic use, Treatment Outcome, Viral Load, drug resistance, Anti-HIV Agent, biology.organism_classification, medicine.disease, CD4 Lymphocyte Count, Genes, drug effects/enzymology/genetics, therapeutic use, Mutation, CD4+ T-lymphocytes, HIV-1
Abstract

An investigation was undertaken to determine whether specific pol mutations hinder long-term immune recovery regardless of virological response. In total, 826 patients with >50 HIV RNA copies/ml, who underwent genotypic resistance testing between 1 January 2000 and 31 December 2003 after >3 years of antiretroviral treatment, and were followed up for >3 years after genotypic resistance testing, were analyzed retrospectively. The outcome of the study was the lack of immune recovery after >3 years of follow-up, defined as a slope by linear regression 50 copies/ml divided by the number of HIV RNA measurements during follow-up. Logistic regression was used for univariable and multivariable analysis. Median (Q1, Q3) values at baseline were the following: age 40 (37, 45) years, years on antiretroviral therapy 4.45 (3.65, 5.47), HIV RNA 3.91 (3.39, 4.53) log 10 copies/ml, CD4+ T-cell 358 (211, 524)/μl. After 3.13 years of follow-up, 375 patients (45.4%) showed a lack of immune recovery. The risk of lack of immune recovery increased independently with increasing baseline CD4+ counts (OR=1.104 per 50-cell increase, 95% CI=1.069-1.142, P

Published
2011

90. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).

Author

Lougaris V, Pession A, Baronio M, Soresina A, Rondelli R, Gazzurelli L, Benvenuto A, Martino S, Gattorno M, Biondi A, Zecca M, Marinoni M, Fabio G, Aiuti A, Marseglia G, Putti MC, Agostini C, Lunardi C, Tommasini A, Bertolini P, Gambineri E, Consolini R, Matucci A, Azzari C, Danieli MG, Paganelli R, Duse M, Cancrini C, Moschese V, Chessa L, Spadaro G, Civino A, Vacca A, Cardinale F, Martire B, Carpino L, Trizzino A, Russo G, Cossu F, Badolato R, Pietrogrande MC, Quinti I, Rossi P, Ugazio A, Pignata C, and Plebani A

Subjects
Adolescent, Adult, Child, Child, Preschool, Databases, Factual, Female, Geography, Medical, History, 20th Century, History, 21st Century, Humans, Infant, Infant, Newborn, Italy epidemiology, Male, Population Surveillance, Prevalence, Primary Immunodeficiency Diseases diagnosis, Primary Immunodeficiency Diseases history, Primary Immunodeficiency Diseases therapy, Prognosis, Registries, Young Adult, Primary Immunodeficiency Diseases epidemiology
Abstract

Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.

Published
2020
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91. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.

Author

Lougaris V, Soresina A, Baronio M, Montin D, Martino S, Signa S, Volpi S, Zecca M, Marinoni M, Baselli LA, Dellepiane RM, Carrabba M, Fabio G, Putti MC, Cinetto F, Lunardi C, Gazzurelli L, Benvenuto A, Bertolini P, Conti F, Consolini R, Ricci S, Azzari C, Leonardi L, Duse M, Pulvirenti F, Milito C, Quinti I, Cancrini C, Finocchi A, Moschese V, Cirillo E, Crescenzi L, Spadaro G, Marasco C, Vacca A, Cardinale F, Martire B, Trizzino A, Licciardello M, Cossu F, Di Matteo G, Badolato R, Ferrari S, Giliani S, Pession A, Ugazio A, Pignata C, and Plebani A

Subjects
Adolescent, Adult, Agammaglobulinemia mortality, Child, Child, Preschool, Follow-Up Studies, Genetic Diseases, X-Linked mortality, Humans, Infant, Infant, Newborn, Italy epidemiology, Male, Middle Aged, Survival Analysis, Young Adult, Agammaglobulinemia epidemiology, Genetic Diseases, X-Linked epidemiology, Infections epidemiology, Lung Diseases epidemiology, Sinusitis epidemiology
Abstract

Background: X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce., Objective: Our aim was to describe the natural history of XLA., Methods: A nationwide multicenter study based on the Italian Primary Immunodeficiency Network registry was established in 2000 in Italy. Affected patients were enrolled by documenting centers, and the patients' laboratory, clinical, and imaging data were recorded on an annual base., Results: Data on the patients (N = 168) were derived from a cumulative follow-up of 1370 patient-years, with a mean follow-up of 8.35 years per patient. The mean age at diagnosis decreased after establishment of the Italian Primary Immunodeficiency Network registry (84 months before vs 23 months after). Respiratory, skin, and gastrointestinal manifestations were the most frequent clinical symptoms at diagnosis and during long-term follow-up. Regular immunoglobulin replacement treatment reduced the incidence of invasive infections. Affected patients developed chronic lung disease over time (47% after 40 years of follow-up) in the presence of chronic sinusitis (84%). Malignancies were documented in a minority of cases (3.7%). Overall survival for affected patients was significantly reduced when compared with that for the healthy male Italian population, and it further deteriorated in the presence of chronic lung disease., Conclusions: This is the first detailed long-term follow-up study for patients with XLA, revealing that although immunoglobulin replacement treatment reduces the incidence of invasive infections, it does not appear to influence the development of chronic lung disease. The overall survival of affected patients is reduced. Further studies are warranted to improve patients' clinical management and increase awareness among physicians., (Copyright © 2020 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)

Published
2020
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92. Failure of anti Interleukin-1 β monoclonal antibody in the treatment of recurrent pericarditis in two children.

Author

Signa S, D'Alessandro M, Consolini R, Miniaci A, Bustaffa M, Longo C, Tosca MA, Bizzi M, Caorsi R, Mendonça LO, Pession A, Ravelli A, and Gattorno M

Subjects
Adrenal Cortex Hormones therapeutic use, Anti-Inflammatory Agents, Non-Steroidal therapeutic use, Antirheumatic Agents administration & dosage, Antirheumatic Agents adverse effects, Cardiac Surgical Procedures adverse effects, Child, Female, Humans, Pericarditis etiology, Pericarditis immunology, Pericarditis physiopathology, Pericarditis therapy, Recurrence, Treatment Outcome, Antibodies, Monoclonal, Humanized administration & dosage, Antibodies, Monoclonal, Humanized adverse effects, Drug Substitution methods, Interleukin 1 Receptor Antagonist Protein administration & dosage, Interleukin 1 Receptor Antagonist Protein adverse effects, Interleukin-1beta antagonists & inhibitors
Abstract

Background: Recurrent pericarditis (RP) is a complication (15-30%) of acute pericarditis with an unknown etiology. Treatment regimen consists of a combination of non-steroidal anti-inflammatory drugs (NSAIDs) and colchicine, with the addition of corticosteroids in resistant or intolerant cases. In the last decade anakinra was shown as an effective treatment in patients with colchicine resistant and steroid-dependent RP, initially in anecdotal reports in children and more recently in a randomized trial. Canakinumab is a monoclonal antibody selectively blocking IL-1β and its use is only anecdotally reported to treat pericarditis. We report two pediatric patients with refractory recurrent pericarditis, who presented an optimal response to anakinra treatment but prompt relapse after switch to canakinumab., Case Presentation: The first patient is a girl with Recurrent Pericarditis started in April 2015, after heart surgery. NSAIDs and oral steroids were started, with prompt relapse after steroid suspension. The child showed a steroid-dependent RP; anakinra was therefore started with excellent response, but discontinued after 2 weeks for local reactions. In July 2016 therapy with canakinumab was started. She experienced four relapses during canakinumab therapy despite dosage increase and steroid treatment. In January 2018 a procedure of desensitization from anakinra was performed, successfully. Anakinra as monotherapy is currently ongoing, without any sign of flare. The second patient is a girl with an idiopathic RP, who showed an initial benefit from NSAIDs and colchicine. However, 10 days after the first episode a relapse occurred and therapy with anakinra was established. Two months later, while being in complete remission, anakinra was replaced with canakinumab due to patient's poor compliance to daily injections. She experienced a relapse requiring steroids 10 days after the first canakinumab injection. Anakinra was subsequently re-started with complete remission, persisting after 24 months follow-up., Conclusions: We describe two cases of failure of the treatment with anti-IL-1β monoclonal antibodies in steroid- dependent idiopathic RP. This anecdotal and preliminary observation suggests a different efficacy of the two IL-1 blockers in the management of RP and support a possible pivotal role of IL-1α in the pathogenesis of this condition.

Published
2020
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93. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Author

Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.

Subjects
Male, Pediatrics, medicine.medical_specialty, x-linked agammaglobulinemia, Activities of daily living, Adolescent, X-linked agammaglobulinemia, Health Status, Immunology, pedsql 4.0 generic core scale, Quality of life, children, Agammaglobulinemia, Surveys and Questionnaires, Activities of Daily Living, health-related quality of life, parents, medicine, Humans, Immunology and Allergy, PedsQL 4.0 Generic Core Scale, Child, Settore MED/38 - Pediatria Generale e Specialistica, Health related quality of life, quality of live, business.industry, Immunoglobulins, Intravenous, Genetic Diseases, X-Linked, medicine.disease, Socioeconomic Factors, Child, Preschool, Mutation, Quality of Life, Female, X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale, business
Abstract

Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.

Published
2009

94. Circulating epstein-barr virus in children living in malaria-endemic areas

Author

Rasti, N, Falk, K I, Donati, D, Gyan, B A, Goka, B Q, Troye-Blomberg, M, Akanmori, B D, Kurtzhals, J A L, Dodoo, D, Consolini, R, Linde, A, Wahlgren, M, Bejarano, M T, Rasti, N, Falk, K I, Donati, D, Gyan, B A, Goka, B Q, Troye-Blomberg, M, Akanmori, B D, Kurtzhals, J A L, Dodoo, D, Consolini, R, Linde, A, Wahlgren, M, and Bejarano, M T

Abstract

Udgivelsesdato: 2005-May, Children living in malaria-endemic regions have high incidence of Burkitt's lymphoma (BL), the aetiology of which involves Plasmodium falciparum malaria and Epstein-Barr virus (EBV) infections. Acute malarial infection impairs the EBV-specific immune responses with the consequent increase in the number of EBV-carrying B cells in the circulation. To further understand the potential influence of malarial infection on the EBV persistence in children living in malaria-endemic areas, we studied the occurrence and quantified cell-free EBV-DNA in plasma from 73 Ghanaian children with and without acute malarial infection. Viral DNA was detected in 40% of the samples (47% in the malaria-infected and 34% in the nonmalaria group) but was absent in plasma from Ghanaian adults and healthy Italian children. These findings provide evidence that viral reactivation is common among children living in malaria-endemic areas, and may contribute to the increased risk for endemic BL. The data also suggest that the epidemiology of EBV infection and persistence varies in different areas of the world.

Published
2005

96. The outcome of children with an initial suspected diagnosis of transient hypogammaglobulinemia of infancy

Author

Moschese, V., Graziani, S., La Rocca, M., Chini, L., Pignata, C., Soresina, A. R., Consolini, R., Trizzino, A., Martino, S., Bossi, G., Putti, M. C., Bertolini, P., Pietrogrande, M. C., Zecca, M., Marseglia, G. L., Cardinale, F., PAOLO ROSSI, Plebani, A., Moschese, V., Graziani, S., La Rocca, M., Chini, L., Pignata, Claudio, Soresina, A. R., Consolini, R., Trizzino, A., Martino, S., Bossi, G., Putti, M. C., Bertolini, P., Pietrogrande, M. C., Zecca, M., Marseglia, G. L., Cardinale, F., Rossi, P., and Plebani, A.

Subjects
Settore MED/38 - Pediatria Generale e Specialistica
Published
2008

97. Expressions and functionality of B lymphocytes in patients with an initial diagnosis of transitory hypogammaglobulinemia of infancy

Author

Moschese, V., La Rocca, M., Graziani, S., Avanzini, M. A., Carsetti, R., Marconi, M., Di Cesare, S., Chini, L., Soresina, A. R., Bossi, G., Trizzino, A., Consolini, R., Cardinale, F., Martino, S., Pignata, C., Zecca, M., Putti, C., PAOLO ROSSI, Plebani, A., Moschese, V., La Rocca, M., Graziani, S., Avanzini, M. A., Carsetti, R., Marconi, M., Di Cesare, S., Chini, L., Soresina, A. R., Bossi, G., Trizzino, A., Consolini, R., Cardinale, F., Martino, S., Pignata, Claudio, Zecca, M., Putti, C., Rossi, P., and Plebani, A.

Subjects
Settore MED/38 - Pediatria Generale e Specialistica
Published
2007

98. Risultati definitivi dello studio prospettico multicentrico di sorveglianza degli effetti collaterali nell'utilizzo delle immunoglobuline per via endovenosa

Author

Soresina A., Rondelli R., Quinti I., Agostini C., Spadaro G., Marzollo R., Martino S., Pietrogrande M.C., Putti C., Trizzino N., Moschese V., Consolini R., Ugazio A.G., Plebani A., PESSION, ANDREA, Soresina A., Rondelli R., Quinti I., Agostini C., Spadaro G., Marzollo R., Martino S., Pietrogrande MC., Putti C., Trizzino N., Moschese V., Consolini R., Pession A., Ugazio AG., and Plebani A.

Published
2007

99. A Pre-HAART Follow-up Study of the Hematologic Manifestations in Children With Perinatal HIV-1 Infection: Suggestions for Reclassification of Clinical Staging

Author

Consolini R, Bencivelli W, Legitimo A, Galli L, Tovo P, Gabiano C, De Martino M, for the Italian Register for HIV infection in children [ . . ., MASI, MASSIMO, Consolini R, Bencivelli W, Legitimo A, Galli L, Tovo P, Gabiano C, De Martino M, for the Italian Register for HIV infection in children [ .., Masi M, and ]

Subjects
medicine.medical_specialty, Anemia, HIV Infections, Disease, Perinatal hiv, Single entity, Internal medicine, medicine, Humans, Intensive care medicine, Survival analysis, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Follow up studies, Infant, Hematology, Prognosis, medicine.disease, Hematologic Diseases, Survival Analysis, Antiretroviral therapy, Italy, Oncology, Pediatrics, Perinatology and Child Health, Disease Progression, HIV-1, business, Follow-Up Studies
Abstract

Hematologic manifestations in perinatally human immunodeficiency virus-1-infected children have not been widely described in literature. Knowledge of the spontaneous evolution of this disease is essential for achieving optimum care of patients. We analyzed the main hematologic manifestations developed in the prehighly active antiretroviral therapy period of 1217 children, collected from the Italian Register for HIV infection. In 111 patients, the hematologic sign was the first clinical manifestation. Among anemic and neutropenic patients, the fraction of patients in clinical class C was significantly higher than the corresponding fraction in class B (76%, P

Published
2007

100. The Mode of Delivery and the Risk of Vertical Transmission of Human Immunodeficiency Virus Type 1 — A Meta-Analysis of 15 Prospective Cohort Studies

Author

Andiman, W., Boucher, M., Burns, D., Bryson, Y., Farley, J., Fowler, H., Gabiano, C., Galli, L., Hutto, C., Kind, C., Korber, B., Kovacs, A., Krogstad, P., Landesman, S., Lapointe, N., Lemay, M., Lew, J., Mandelbrot, L., Mayaux, Mj, Mellins, R., Minkoff, H., Mofenson, L., Nielsen, K., Newell, Ml, Pardi, G., Peavy, H., Peckham, C., Read, J., Rother, C., Rudin, C., Scott, G., Semprini, A., Shearer, W., Simonds, R., Simpson, B., Stek, A., Tovo, Pa, Tuomala, R., Dyke, R., Weedon, J., Martino, M., Lindsay, M., Belair, S., Chan, L., Harris, D., Kalish, L., Muenz, L., Nugent, R., Schluchter, M., Durako, S., Goodwin, S., Mitchell, R., Nourjah, P., Owen, W., Widmayer, S., Bardeguez, A., Hanson, C., Wiznia, A., Luzuriaga, K., Viscarello, R., Ho, D., Koup, R., Chen, I., Mullins, J., Wolinsky, S., Walker, B., Ammann, A., Clapp, S., Mcdonald, D., Fauvel, M., Hankins, C., Samson, J., Bailey, A., Giaquinto, C., Ruga, E., Rossi, A., Truscia, D., Grosch-Worner, I., Schafer, A., Mok, J., Johnstone, F., Jiminez, J., Alba, C., Garcia-Rodriguez, M., Bates, I., Jose, I., Hawkins, F., Zapico, Rm, Asensi-Botet, F., Otero, M., Perez-Tamarit, D., Moya, A., Galbis, M., Scherpbier, H., Boer, K., Bohlin, A., Lindgren, S., Ehrnst, A., Anzen, B., Belfrage, E., Levy, J., Alimenti, A., Barlow, P., Ferrazin, A., Maria, A., Gotta, C., Maritati, V., Mur, A., Rovira, M., Paya, A., Coll, O., Fortuny, C., Boguna, J., Caro, Mc, Canet, Y., Ravizza, M., Castagna, C., Fiore, S., Guerra, B., Lanari, M., Bianchi, S., Bovicelli, L., Prati, E., Duse, M., Soresina, A., Scaravelli, G., Santis, M., Muggiasca, M., Vigano, A., Marchisio, P., Iasci, A., Spinillo, A., Bucceri, A., Grossi, E., Rancilio, L., Della Torre, M., Dallacasa, P., Pachi, A., Principi, N., Zara, C., Vignali, M., Rossi, G., Selvaggi, L., Greco, P., Vimercati, A., Massi, G., Innocenti, T., Fiscella, A., Sansone, M., Benedetto, C., Tibaldi, C., Ziarati, N., Tadrist, B., Thevenicau, D., Gondry, J., Paulard, B., Alisy, C., Brault, D., Tordjeman, P., Mamou, J., Rozan, M., Colombani, D., Pincemaille, O., Salvetti, A., Chabanier, C., Hernandorena, X., Leroy, J., Schaal, J., Balde, P., Faucher, P., Lachassinne, E., Benoit, S., Douard, D., Hocke, C., Barjot, P., Brouard, J., Delattre, P., Stien, L., Audibert, F., Labrune, P., Vial, M., Mazy, F., Sitbon, D., Crenn-Hebert, C., Floch-Tudal, C., Akakpo, R., Daveau, C., Leblanc, A., Cesbron, P., Duval-Arnould, H., Huraux-Rendu, C., Lemerle, S., Touboul, C., Guerin, M., Maingueneau, C., Reynaud, I., Rousseau, T., Ercoil, V., Lanza, M., Denavit, M., Garnier, J., Lahsinat, K., Pia, R., Allouche, C., Nardou, M., Grall, F., May, A., Dallot, M., Lhuillier, P., Cecile, W., Mezin, R., Bech, A., Lobut, J., Algava, G., Dermesay, Ac, Busuttil, R., Jacquemot, M., Bader-Meunier, B., Fridman, S., Codaccioni, X., Maxingue, F., Thomas, D., Alain, J., Lumley, L., Tabaste, J., Salin, Pb, Seaume, H., Guichard, A., Kebaili, K., Roussouly, C., Botto, C., Lanete, A., Wipff, P., Cravello, L., Boisse, P., Leclaire, M., Michel, G., Crumiere, C., Lefevre, V., Le Lorier, B., Pauly, I., Robichez, B., Seguy, D., Dehlinger, M., Rideau, F., Talon, P., Benos, P., Huret, C., Nicolas, J., Heller-Roussin, B., Saint-Leger, S., Delaporte, M., Hubert, C., Sarcus, B., Karoubi, P., Mechinaud, F., Bertcrottiere, D., Bongain, A., Monpoux, F., Gennes, C., Devianne, F., Nisand, I., Rousset, M., Mouchnino, G., Muray, J., Munzer, M., Quereux, C., Brossard, V., Clavier, B., Allemon, M., Rotten, D., Stephan, J., Varlet, M., Guyot, B., Narey, P., Bardinet, F., Caunes, F., Jeny, R., Robin, M., Bouley, Ar, Savey, L., Berrebi, A., Tricoire, J., Borderon, J., Fignon, A., Guillot, F., Maria, B., Broyard, A., Chitrit, Y., Firtion, G., Pillet, Ml, Parat, S., Boissinot, C., Garec, N., Levine, M., Ottenwalter, A., Schaller, F., Vilmer, B., Courpotin, C., Brunner, C., Ciraru-Vigneron, N., Hatem-Gantzer, G., Xavier FRITEL, Wallet, A., Bouille, J., Milliez, J., Mrejen, Db, Dermer, E., Noseda, G., Bardou, D., Cressaty, J., Francoual, C., Moncomble, Cc, Cohen, H., Blanche, S., Bastion, H., Benifla, J., Benkhatar, F., Berkane, N., Herve, F., Ronzier, M., Ferraris, G., Rancillo, L., Tulisso, S., Scolfaro, C., Riva, C., Vierucci, A., Luca, M., Farina, S., Fundaro, C., Genovese, O., Mercu, G., Forni, G., Stegagno, M., Falconieri, P., Zuccotti, G., Riva, E., Cellini, M., Baraldi, C., Consolini, R., Palla, G., Ruggeri, M., Pignata, C., Guarino, A., Osimani, P., Metri, A., Antonellini, A., Benaglia, G., Romano, A., Mattia, D., Caselli, D., Boni, S., Erba, G., Bassanetti, F., Sticca, M., Timpano, C., Magnani, C., Salvatore, C., Gambaretto, G., Lipreri, R., Tornaghi, R., Pinzani, R., Cecchi, M., Bezzi, T., Battisti, L., Bresciani, E., Gattinara, G., Berrino, R., Pellegatta, A., Mazza, A., Baldi, F., Micheletti, E., Altobelli, R., Deiana, M., Colnaghi, C., Tarallo, L., Tondo, U., Anastasio, E., Chiriaco, P., Contardi, I., Ruggeri, C., Ibba, P., O Sullivan, M., Malmsberry, A., Willoughby, A., Goedert, J., Mendez, H., Holman, S., Rubinstein, A., Nesheim, S., Clark, S., Lee, F., Nahmias, A., Sawyer, M., Vink, P., Alger, L., Abrams, E., Bamji, M., Lambert, G., Schoenbaum, E., Thea, D., Thomas, P., Palumbo, P., Denny, T., Oleske, J., Orloff, S., Ethier-Ives, J., Rogers, M., Kutner, M., Kaplan, S., Kattan, M., Lipshultz, S., Sopko, G., Sloand, E., Wu, M., Nadal, D., Siegrist, Ca, Wyler, Ca, Cheseaux, Jj, Aebi, C., Gnehm, H., Schubiger, G., Klingler, J., Hunziker, U., Kuchler, H., Gianinazzi, M., Buhlmann, U., Biedermann, K., Lauper, U., Irion, O., Brunelli, A., Spoletini, G., Schreyer, A., Hosli, I., Saurenmann, E., Drack, G., Isenschmid, M., Poorbeik, M., Schupbach, J., Perrin, L., Erb, P., Joller, H., Dillon, M., Nielsen, R., Boyer, P., Liao, D., Keller, M., Deveikis, A., Khoury, M., Diaz, C., Pacheco-Acosta, E., Cooper, E., Mesthene, D., Pitt, J., Higgins, A., Moroso, G., Rich, K., Turpin, D., Cooper, N., Fowler, M., Smeriglio, V., Mckinlay, S., and Ellis, S.

Subjects
Male, medicine.medical_specialty, Multivariate analysis, Anti-HIV Agents, Birth weight, HIV Infections, Cohort Studies, Pregnancy, Risk Factors, medicine, Birth Weight, Humans, Rupture of membranes, Pregnancy Complications, Infectious, Prospective cohort study, Cesarean Section, Obstetrics, business.industry, Infant, Newborn, General Medicine, Odds ratio, Delivery, Obstetric, medicine.disease, Infectious Disease Transmission, Vertical, Confidence interval, Logistic Models, Multivariate Analysis, Immunology, HIV-1, Female, business, Zidovudine, Cohort study
Abstract

Background To evaluate the relation between elective cesarean section and vertical transmission of human immunodeficiency virus type 1 (HIV-1), we performed a meta-analysis using data on individual patients from 15 prospective cohort studies. Methods North American and European studies of at least 100 mother-child pairs were included in the meta-analysis. Uniform definitions of modes of delivery were used. Elective cesarean sections were defined as those performed before onset of labor and rupture of membranes. Multivariate logistic-regression analysis was used to adjust for other factors known to be associated with vertical transmission. Results The primary analysis included data on 8533 mother-child pairs. After adjustment for receipt of antiretroviral therapy, maternal stage of disease, and infant birth weight, the likelihood of vertical transmission of HIV-1 was decreased by approximately 50 percent with elective cesarean section, as compared with other modes of delivery (adjusted odds ratio, 0.43; 95 percent confidence interval, 0.33 to 0.56). The results were similar when the study population was limited to those with rupture of membranes shortly before delivery. The likelihood of transmission was reduced by approximately 87 percent with both elective cesarean section and receipt of antiretroviral therapy during the prenatal, intrapartum, and neonatal periods, as compared with other modes of delivery and the absence of therapy (adjusted odds ratio, 0.13; 95 percent confidence interval, 0.09 to 0.19). Among mother-child pairs receiving antiretroviral therapy during the prenatal, intrapartum, and neonatal periods, rates of vertical transmission were 2.0 percent among the 196 mothers who underwent elective cesarean section and 7.3 percent among the 1255 mothers with other modes of delivery. Conclusions The results of this meta-analysis suggest that elective cesarean section reduces the risk of transmission of HIV-1 from mother to child independently of the effects of treatment with zidovudine.

Published
1999
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